13 June 2009

Healthy Skin Women and Dermatology

Healthy Skin Women and Dermatology
By:Suguru Imaeda, M.D.
Chief of Dermatology, Yale University Health Service

* Normal structures of the skin
* Changes in the skin over time
* Sun and skin
* Skin cancer
* Maintaining healthy skin
the largest organ
* key role in normal healthy functioning of the body
* Disorders range from those limited to the skin to manifestations in the skin of internal disorders
* plays important role in social and psychosocial functioning of the individual
* undergoes changes with aging and in response to external environmental factors and internal hormonal influences
Gender differences
* Fundamental differences in structure and function of the skin
* Differences impact on presentation of skin disease and its management
* Hormonal influences affect common disorders such as acne, rosacea, lupus erythematosus, psoriasis, lichen planus, anogenital pruritus, hidradenitis suppurativa, and atopic dermatitis
Toddler to adolescence
Body piercing
* presents risks for multiple possible complications
* nickel allergy
* secondary infection with staphylococcus or streptococcus
* ear cartilage destruction from pseudomonal infection
* candidal infection of the navel or genitalia
* Keloids
* traumatic tears
* Infection
* Granulomatous reaction
* Photodermatitis
* Difficult to remove
* Brown patches on forehead and cheeks
* Very sensitive to sun exposure
* More common in Hispanics, Middle Easterners, and Asians
* Most common cause is oral contraceptive use or pregnancy
Melasma management
* Discontinuation of oral contraceptive
* Avoidance of sun/tanning bed
* Daily application of broad spectrum sunscreen
* 4% hydroquinone or 20% azelaic acid
* ? laser
Intrinsic aging
* Changes of chronologic aging gradually become apparent
* Influenced by genetics, gravity, and hormones
* Clinically, the normal aging process leads to fine wrinkles, dryness, sallow color, thinner skin, laxity and purpura
Aging skin
* Decreased function as environmental barrier, sensory organ and immune organ
* Epidermal and dermal atrophy with loss of appendages
* Decreased sweat production leads to dryness
* Decreased body and scalp hair
* Decreased ovarian estrogen production leads to decreased collagen and increased wrinkling
* Overall thinner, paler, drier, with fine wrinkling and decreased elasticity
* dermal thinning
* decreased vascularity
* decreased subcutaneous fat
* reduced cellularity of the dermis
* elastic fiber loss
* dermal thinning
* decreased vascularity
* decreased subcutaneous fat
* reduced cellularity of the dermis
* elastic fiber loss

Environmental factors on skin
* create extrinsic damage
* major effect is from photoaging with wrinkling, laxity (sagging), lentigenes, dyschromia, coarseness, sebaceous hyperplasia, and telangiectasia
* 90% of visible skin changes of aging
* Visible as early as age 20
* shown to decrease both hyaluronic acid and glycosaminoglycan synthesis
* causes decreased capillary blood flow in the skin
* changes accelerate wrinkling
The twenties
* Skin is smooth and coloring is even
* Little need for emollients
* Skin care is simple - variety of products are tolerated
* May be persistent acne associated with hormonal activity manifest by flaring during the week prior to the menstrual period.

The thirties
* thinning of the skin beneath the eyes
* skin is less elastic
* Fine wrinkles begin to appear around the mouth and lateral periorbital region
* Increased fat and sluggish blood flow contribute to puffiness and darkening of the skin beneath the eyes
The forties
* More sallow and less supple
* Skin surface not as smooth
* Liver spots, solar lentigenes, appear on areas of chronic low grade sun exposure - face, dorsal hands, back or dorsal feet
* Thin red spider angiomas appear on the legs
* Weight gain leads to sagging skin
* Cellulite appears on thighs and buttocks
* Deep furrows develop on forehead and lateral periorbital areas (crow’s feet)
* Skin becomes drier - sweat glands grow smaller and become less effective
The fifties and sixties
* Wrinkles are deeper - skin begins to sag and droop
* Skin tone is lighter from decreased circulation
* More solar lentigines form
* Collagen and elastin are thinner
* Collagen is estrogen dependent therefore skin is both thinner and drier
* Dryness occurs from thickening of the stratum corneum
* Moisturizers help keep the skin moist and supple
* Alpha hydroxy acid-containing products help by reducing the thickness of the stratum corneum, promoting thickening of the epidermis and dermis, and promoting synthesis of collagen, elastin, protein and glycosaminoglycan
* rosy complexion - increase in vascular circulation
* hyperpigmentation on the nipples, vulva, anus and inner thighs from hormonal stimulation
* Freckles (ephelids) and birthmarks may also darken
* Melasma, the mask of pregnancy, from hormonal changes, sun exposure and genetic factors
* Skin tags develop on the neck, chest, inframammary area, inner thighs, and face
* Spider angiomas, purpura and capillary hemangiomas
* Stretch marks, striae distensae
* Varicosities and hemorrhoids
Sun protection
* Signs of extrinsic photoaging not intrinsic genetic aging usually prompts the visit to the dermatologist
* Therefore, it is most important to incorporate into the daily routine a sun protection regimen
* Coco Chanel declares tanning “in” in 1920’s
* Suntan seen as symbol of health, youth, status
* Skin’s reaction to damage from UV radiation
* Melanocytes produce melanin
Indoor tanning
* Increasingly popular, esp among young women in 20’s
* Advertised as safe, “healthy glow”, little risk of skin cancer
* Controlled tanning protects against sunburn by building up melanin
* Vitamin D helps prevent breast, prostate, colon cancer
Dripping faucet
* Your skin = empty glass
* Dripping water = ultraviolet radiation
* Rate of drip = amount of sun exposure
* Rate of evaporation of water = skin’s ability to repair DNA damage caused by UV radiation
* Your glass is full = you’ve reached your limit of sun exposure
* Water starts spilling over the top = getting skin cancers
Ultraviolet radiation
Sun myths
Basal cell carcinoma and Squamous cell carcinoma
IARC (International Agency for Research on Cancer)
Sunless tanning
Tanning pills
Sun Protection Factor
In vitro CT FL
New proposed labeling guidelines for sunscreens
UV Index
Anti-aging treatments
* Prevention
* Retinoids
* Lasers
* Chemical peels
* Dermabrasion
* Botox
* Fillers
* $35 billion/year industry
* Daily use of sunscreen or moisturizer with sunscreen SPF 15+
* Clothing
* Avoiding unnecessary UV exposure
* Avoiding sun exposure between 10a-4p
* Tretinoin and tazarotene
* Vitamin A derivatives
* Even out skin tone
* Rebuild collagen
* Repair minor sun damage
* Inhibit tumor growth
* Decrease inflammation
Chemical peels
General skin care
Skin Care Tips
* Sun protection
* Hydration
* Healthy diet – fruits, vegetables, fish
* Gentle skin care products – soaps
* Moisturize
* Don’t smoke

Healthy Skin Women and Dermatology.ppt


Current Obesity Management in Primary Care

Current Obesity Management in Primary Care
By:Eileen L. Seeholzer, M.D., M.S.

Obesity Defined

· Traditionally defined as a weight 20% greater than ideal body weight
· Severe obesity or morbid obesity is defined traditionally defined as a weight 100% greater than ideal body weight

Fat Distribution
Upper-body obesity or abdominal obesity or androgenic obesity: An independent risk factor for diabetes mellitus, cardiovascular disease, hypertension, arthritis, menstrual irregularities and gallbladder disease
(Diabetes mellitus is thirty times higher in highest waist-to-hip ratio (whr)compared to lowest quartile whr)
Clinical Guidelines on the Identification, Evaluation and Treatment of overweight and Obesity in Adults

Body Mass Index Chart
Scope of the problem in the U.S.
Increased Risk for Adult Obesity
* Gender/Ethnicity: Women, blacks, Hispanics and Native Americans
* Family History
* Childhood Obesity
* In lower socioeconomic status
* Sedentary lifestyle
* Increased time-spent watching TV
Local Public Health Data
Associated Medical Problems
Renal: Proteinuria/glomerulosclerosis, CRF
Dermatologic: intertrigo, venous stasis, cellulitis, hidradenitis suppurativa, acanthosis nigricans
Psychiatric: depression, binge eating disorder, night eating syndrome
GU: stress incontinence, PCOS, infertility, pregnancy risk
Rheumatologic: DJD- knee, hip, low back pain
General: fatigue, pain, disability, lower socio- economic status, poorer quality of life
Obesity associated Increased Risks in Pregnancy
* Gestational Diabetes
* Hypertension
* Disordered breathing/Obstructive Sleep Apnea
* Cesarean section rate (RR1.5-1.8)
* Congenital heart defects (OR 1.4-2.0)
* Spina Bifida (OR 3.5)
* Omphalocele (OR 3.3)
* Increased levels of leptin, crp and tnf-alpha

Birth Weight and Obesity
* LBW and (<2000gm)OR2.16 and high birth weight (>4000gm)OR 1.53 increased gestational DM risk
* LBW associated with increased overweight adolescence
* Prolonged breast feeding associated with lower rates of adult obesity
Metabolic Syndrome
Three or more of the following present:
* Abdominal obesity(>102cm M/88cm F)
* Elevated triglycerides (>150mg/dl)
* Low HDL (<40 for men mg/dl; <50 for mg/dl for women)
* Hypertension
* High fasting blood sugar
Neuroendocrine Environment
* Leptin/Leptin receptor resistance (at VMH)
* TNF-α, IL-6, adiponectin (aconitase theory – decreased cellular ATP,increased FFA and glucose, Wlodek, et. Al. 2003)
* Dopamine, serotonin, norepinephrine
* Low growth hormone levels observed
* Higher cortisol levels sometimes seen
Ghrelin and Peptide YY
Impact of Weight Loss on Risk Factors
Obesity Treatment Pyramid
Physical Activity
Lifestyle Modification
Non-Pharmacologic Treatments
Components of Basic Program
* Diet Recommendations
* Exercise Recommendations
* Behavior Therapy
* Regular f/u in maintenance phase
Behavior therapy
Combined therapy
Time (mo)
Assessing Weight Loss Readiness
* Motivation:
* Stress level:
* Psychiatric issues:
* Time availability:
Patient seeks weight reduction
Results from Non-pharmacologic Programs
Pharmacologic Treatments
Other Agents
Experimental Agents - Phase 3
Medications That May Promote Weight Gain
* Antipsychotics: risperidone, clonazepine, olanzepin
* Antidepressants: Tri-cyclics, SSRI
* Antiepileptics: valproic acid, gabapentin, carbemazepine
* Lithium
* DM treatments: Sulfonylureas, insulin
* Progestin steroids
* Cortisone
* Antihistamines
* Beta blockers
Surgical Treatment
Surgical Outcomes
Improvement in Comorbid Conditions s/p Gastric Bypass
Common longer-term Complications after Gastric Bypass
Screening For Obesity in Adults
Weight Management Clinic
Obesity Treatment Guidelines

Current Obesity Management in Primary Care.ppt


Dermatology Review

Dermatology Review
By:Jennifer Best, MD

Acanthosis Nigricans
* Velvety discoloration of skin in flexural creases
* Most commonly seen in insulin resistant states (e.g. DM, PCOS, niacin use), endocrinopathy, malignancy

* Soft, polygonal papules and plaques consisting of cholesterol, usually located on upper lids
* When seen in children and young adults, associated with familial hypercholesterolemia
Necrobiosis lipoidica
* Well-demarcated plaque, yellow-orange to tan-pink with thinning and telangiectasia
* Non-painful
* Usually located on shins/feet
* Associated with long-standing, juvenile-onset DM
Molluscum contagiosum
* Centrally umbilicated papules seen in children and sexually active adults
* Viral cause
* More aggressive and common on face in HIV
Angular cheilitis
* Fissuring of corners of mouth
* Associated with thrush, atopic dermatitis, nutritional deficiencies and denture use
Prurigo nodularis
* Pickers’ nodules
* Nodular lesions due to chronic excoriation of the skin
Keratosis pilaris
* Benign sandpaper like bumps (“goosebumps”) on extensor surfaces
* Associated with atopy or a normal variant
* Plaques are initially purplish and become ivory in color
* Localized scleroderma
Nikolsky’s sign
* POSITIVE when epidermis is dislodged from the dermis by lateral shearing pressure and blister extends
* Seen in toxic epidermal necrolysis, scalded skin syndrome and pemphigus vulgaris
Seborrheic keratosis
* What is it?
* Does it have malignant potential?
* Warty brown growths seen on aging skin – looks “stuck on”
* No malignant potential, purely cosmetic
Seborrheic dermatitis
* Always think of HIV in seborrheic dermatitis that is extensive or refractory to treatment
* Bulbous erythematous enlargement of the nose
* Seen in advanced rosacea
Hidradenitis suppurativa
* Sebaceous cysts seen in follicular areas (e.g. groin, axillae, scalp)
* More common in African Americans
Hereditary Hemorrhagic Telangiectasia
* Other names?
* Dermatologic manifestations?
* Clinical associations?
* Otherwise known as Osler-Weber-Rendu Syndrome
* Autosomal dominant
* Red macular/papular telangiectasias and AVMs on or around mucous membranes/GI tract
* Associated with bleeding tendency
* Common name?
* Skin tag
* 1. Papules
* 2. Pustules
* 3. Telangiectasias
* Located over cheeks
* May involve nasolabial folds
* Exacerbated by alcohol, hot beverages, spicy foods, sun exposure
Nail pitting
* Associated with?
* Psoriasis
Condyloma lata
* What is it?
* What organism is responsible?
* Flat flesh-colored warts seen in anogenital region
* Representative of secondary syphilis
Condyloma acuminata
* What is it?
* What organism is responsible?
* Human papilloma virus (HPV)
* Genital warts
* Herpes simplex virus infection on finger
* Often seen in health care workers
Tinea versicolor
* Macules with fine scaling on trunk, upper arms, neck, abdomen, axillae with varying pigmentation
* Asymptomatic
* Caused by Malassezia furfur (looks like “spaghetti and meatballs” on KOH prep)
Ascending skin lesions
* Differential diagnosis?
* Mycobacterium marinum
* Sporothrix schenkii
* Nocardia
* Francisella tularensis
Hypopigmented anesthetic macules
* Leading diagnosis?
* Leprosy (Hansen’s Disease)
Yellow-orange skin discoloration
* What should you think of?
* Jaundice
* Increased beta carotene ingestion
* Hypothyroidism (without thyroid hormone, problems metabolizing beta carotene)
* Usually seen best on palms
* What is it?
* Silver-gray discoloration of the skin due to intradermal deposition of silver
* Permanent!
Hot tub folliculitis
* What causes it?
* Pseudomonas aeruginosa
Heliotrope lids
* Purplish discoloration around eyes seen in dermatomyositis
* Also associated with…
* Purplish discoloration around eyes seen in dermatomyositis
* Also associated with…Gottron papules
* Recall association of dermatomyositis with malignancy in older patients
Common drug causes of slate-gray discoloration
Common cause of bullous cellulitis in liver disease
* Responsible organism?
* Group A beta-hemolytic strep
* Raised erythematous plaques, may involve face or extremities
Bullous pemphigoid
* Most common blistering disorder
* Most common in elderly
* Nikolsky negative
* Commonly related to medications (sulfa, furosemide, penicillin
Erythema marginatum
* Pink rings on the trunk and inner surfaces of the arms and legs which come and go for as long as several months - barely raised and non-pruritic. Face is generally spared.
* Associated with rheumatic fever (but only less than 5% of patients)
* Considered a major Jones criterion when it does occur (4 others?)
Erythema nodosum
* Painful, erythematous round plaques, commonly pretibial
* Associated with infection (including strep, fungal, TB), IBD, sarcoidosis, drugs (OCPs, sulfa)
Drug cause of skin necrosis
* Warfarin (1:10,000)
* High doses
* Overweight women
* Breasts, buttocks, thighs, abdomen
Bacillary angiomatosis
* Associated with Bartonella infections (quintana, henselae)
* Cutaneous vascular tumors seen almost exclusively in HIV
Lupus pernio
* Dermatologic manifestation of sarcoidosis
* Indurated violaceous lesions, usually on face
Erythema multiforme
* Strong association with HSV, mycoplasma
* Drug causes (sulfa, phenytoin, PCN, allopurinol)
* Target lesions – can be localized to hands/face or generalized
* On a continuum with Stevens-Johnson
Dermatitis herpetiformis
* Grouped erythematous papules and plaques – seen on extensor areas (elbows, knees, trunk, buttocks, sacrum) as well as scalp, face and hairline
* Associated with celiac sprue
Herpes zoster
* Reactivation of VZV along dermatomal distribution
* Increasing incidence with age and immunosuppression
* Pain precedes rash
Erythema migrans
* “Bulls-eye” lesions seen in 50-70% of patients with Lyme disease (Borrelia burgdorferi).
Infectious disease most associated with cryoglobulinemia?
Infectious disease most strongly associated with cryoglobulinemia?
* Hepatitis C virus
* Can cause vasculitic lesions (palpable purpura) commonly on lower extremities
Kaposi’s Sarcoma
* Associated with?
* HHV-8
Keratoderma Blenorrhagicum
* Red-brown papules/pustules/vesicles with erosion and crusting on dorsilateral and plantar foot and palms
* Associated with reactive arthritis
Livedo reticularis
* Associated with?
* Vasculitis
* Vascular spasm
* Atheroemboli
* Normal variant (finer pattern)
* Most common on extremities/abdomen
Pyoderma gangrenosum
* Painful, hemorrhagic pustule or macule that breaks down into an ulcer with irregular raised borders and purulent base
* Usually on lower extremities
* Most strongly associated with IBD, but also associated with inflammatory arthritis, hematologic disorders and other GI conditions
Increased skin elasticity
* Ehlers-Danlos
Lichen planus
* Associated with?
* Hepatitis C virus
* Purple, planar, pruritic, polygonal papules on volar wrists, ankles, genitals, mucous membranes and nails
* Wickham’s striae are white lines inside lesions
* Cutaneous hyperpigmented macules of lips, perioral and perinasal areas
* Associated with polyps and hamartomas of the GI tract (small bowel, colon and stomach)
* Associated with increased cancer risk
Koebner phenomenon
* What is it?
* With what dermatologic condition is it associated?
* Development of lesions at the site of skin trauma
* Seen in psoriasis (1/3 of patients), but also eczema, vitiligo, lichen planus or sclerosus
* What is it?
* With which disease is it associated?
* Development of pustule at the site of skin breach (i.e. blood draws, injections)
* Seen in Behcet’s Disease
* With which condition is it associated?
* Development of wheal and flare at site of minor friction
* Seen in urticaria
Eruptive xanthomas
* Yellowish papules located on extensor surfaces (knees, buttocks, elbows)
* Seen in familial hypertriglyceridemia
Urticaria pigmentosa
* Name the disease…
* Flat top papules and brown plaques that for wheal and flare when scratched
* Seen in mastocytosis
Osler’s nodes
* Painful, purplish lesion usually on hands - immune complex deposition
* Seen in endocarditis
Janeway lesions
* Flat , bluish-red, non-painful lesions on palms and soles
* Seen in endocarditis
Cat-scratch disease
* Causative organism?
* Bartonella
* Following cat scratch, development of acute, tender regional lymphadenopathy
“Slapped-cheek” rash
Eosinophilic folliculitis
Corkscrew hairs and perifollicular hemorrhage
Peau d’orange
Actinic keratosis
Porphyria cutanea tarda
Nailfold telangiectasia
Beau’s lines
Oral Hairy Leukoplakia
Pityriasis rosea
Spider angioma
Café au lait spots
Caput medusae
Migratory necrolytic erythema
Acrodermatitis enteropathica
Ecthyma gangrenosum
Sweet’s syndrome

Dermatology Review.ppt


Selected Skin Diseases and Treatment

Selected Skin Diseases and Treatment
Tailored for the Athletic Trainer
By:Dr. Garth Russo

Dermatology: Common Pathology
* Infectious
o Bacterial
o Viral
o Fungal
o Parasitic
* Immunologic
o Inflammatory
o Allergic
o Acne
Bacterial Infections
* Folliculitis
* Cellulitis
* Impetigo
* Boil/Furuncle/Abscess/Carbuncle

Folliculitis: Common
Folliculitis: Special Circumstances
Hot Tub Folliculitis
Pseudofolliculitis barbae
Acne Keliodalis
Boil, Furuncle, Abscess, Carbuncle
Hidradenitis Suppurativa
Viral Infections
Herpes Simplex
Herpes Virus Behavior
Oral Herpes
Genital Herpes
Cutaneous Herpes: Herpes Gladiatorum
Varicella Virus
* Chicken Pox
* Shingles
Variola: Smallpox
* Common wart
* Plantar Wart
* Genital Wart
Common Wart: Verucca Vulgaris
Plantar Wart
Genital Warts
Molluscum Contagiosum
Viral Exanthems
Fungal Infections
Fungal Infections:Treatment
Tinea Corporis: Ringworm
Tinea Versicolor
Tinea Pedis: Athlete’s Foot
Tinea Cruris
Tinea Capitis
Tinea Unguium
Parasites: Scabies
Scabies: Treatment
Immunologic Processes
* Inflammatory Conditions
* Allergic Responses
* Acne
Inflammatory Conditions
* Inflammatory Conditions
o Eczema
o Psoriasis
o Contact Dermatitis
o Pityriasis Rosea
+ This class
Allergic Reactions
Urticaria: Hives
Acne Vulgaris
Cystic Acne
Papulopustular Acne
Other Acne
* Steriod Acne
* Neonatal Acne
* Occupational Acne
* Acne Mechanica
* Acne Cosmetica
* Excoriated Acne
Mechanical/Occupational Acne

Selected Skin Diseases and Treatment.ppt


Pathology and Neoplasia

Pathology and Neoplasia
Lesions of the Vulva

* Cysts
* Tumors
* Dermatological conditions
* Condyloma acuminatum
* Nevus
* Psoriasis
* Seborrheic Dermatosis
* Hidradenitis Suppurativa
* Lichen planus
* Lichen Sclerosis
* Lichen Simplex Chronicus
* Urethral Diverticulum or Caruncle
* Trauma
* Vaginal intraepithelial neoplasia (VAIN)
* Condyloma
* Urethral Diverticulum
* Urethral Caruncle
* Dysontogenetic cysts

Lesions of the Cervix
* Polyps
* Nabothian Cysts-mucous retention cysts, translucent/opaque, caused by normal healing process or cervix
* Fibroids
* Cervical intraepithelial neoplasia (CIN)
* Condyloma
* Polyps
* Fibroids

Lesions of the Uterus
* Intravenous leiomyomatosis
* Leiomyomatosis peritonealis disseminata
* Fibroids
* Adenomatoid Tumors

Lesions of the Ovary
* Functional cysts
* Theca lutein cysts
* Tumors
* Fibroma
* Dermoid (Mature Teratoma)
* Brenner’s Tumor (transitional cell tumor)


Pathology and Neoplasia.ppt



Folliculitis Decalvans
* An inflammatory reaction of the hair follicles
* Leads to cicatricial alopecia
* Small pustules surround the follicles
* Erythema, scaling, and smooth shiny depressed scars are apparent
* Pseudopelade
* When the pustules have healed and scarring remains –pseudopelade occurs
* Note intact follicles and single hairs growing
* May occur on axillae and groin as well
* Etiology is unknown
* Scarring alopecia in a middle-aged man, associated with a hyperkeratotic scale-crust with follicular hyperkeratosis and erythema

* Cephalosporins, dicloxacillin, and azithromycin and rifampin may be added to therapy for better long-term control
* Oral zinc or vitamin C supplementation may enhance response
* Chronic inflammation reactions may be helped with topical steroids and by intralesional triamcinolone
* Thick, asbestos-like (amiantaceous), shiny scales attached to the lower part of the hair shaft, rather like tiles overlapping on a roof
* Crusting may be localized or, less commonly generalized over the entire scalp
* There are no structural changes in the hair, but in some patches where the crusting is thick, there may be purulent exudate under the crust and temporary alopecia may occur

Tinea Amiantacea
* Etiology is likely secondary to an infection occurring in seborrheic dermatitis or inverse psoriasis
* Treatment should be shampoo daily or every other day with selenium sulfide susupension, or a tar shampoo , for a few weeks
* Prior application of Baker’s P&S liquid is helpful to remove scale and crust
* Derma-Smoothe and FS shampoo are also effective
Keratosis Follicularis Contagiosa
* Also known as epidemic acne, epidemic follicular eruption, epidemic follicular keratosis, and Brooke’s disease
* Unknown etiology
* Occurs in children
Keratosis Follicularis Contagiosa
* Eruption is widespread and symmetrical, affecting chiefly the back of the neck, the shoulders, and the extensor surfaces of the extremities
* Onset is acute, may affect large numbers of patients in a localized geographic area , and spontaneously involutes over a 3-to-6-week period
* There is a horny thickening of these areas, especially pronounced about the follicles, where small black corneous may be discerned
* Etiology has been hypothesized to be infectious- but not proven

Folliculitis Nares Perforans
Perforating Folliculitis
Kyrle’s Disease
Reactive Perforating Collagenosis
Trichrome stain
Perforating Disease of Hemodialysis
Traumatic Anserine Folliculosis
Disseminate and Recurrent Infundibulofolliculitis
Lichen Spinulosus
Gustatory Hyperhidrosis
Other Localized Forms of Hyperhidrosis
Generalized Hyperhidrosis
Anhidrosis= absence of sweating
Bromidrosis= fetid sweat
Fox-Fordyce Disease
Apocrine gland sweating does not occur in areas of involvement
Treatment is difficult-No form of therapy is uniformly effective
Granulosis Rubra Nasi
Neutrophilic Eccrine Hidradenitis
Recurrent Palmoplantar Hidradenitis
Sagittal view of nail unit
Lichen Planus of Nails
Treatment is unsatisfactory-
Psoriatic Nails
Darier’s Disease
Beau’s Lines
Half and Half Nails
Muehrcke’s Lines
Mees’ Lines
Terry’s Nails
Onychorrhexis (Brittle Nails)
Pitted Nails (Stippled Nails)
Racquet Nails (Nail en Raquette)
Chevron Nail (Herringbone Nail)
Nail-Patella Syndrome
Other bone features
Median Nail Dystrophy
Pterygium Unguis
Beau’s Lines
Half and Half Nails
Mees’ Lines
Terry’s Nails
Onychorrhexis (Brittle Nails)
Pitted Nails (Stippled Nails) .......
Leukonychia or White Nails
Nail-Patella Syndrome
Median Nail Dystrophy
Pterygium Unguis
Pterygium Inversum Unguis
Pincer Nails



12 June 2009

Pharmacology presentations

Pharmacology presentations
by:Karyn Mills, RN, BSN

Drugs for Hypertension
Drugs for the Reproductive System
Drugs for Bacterial Infection
Drugs for Heart Failure
Drugs for Dysrhythmias
Drugs for Anxiety, Daytime Sedation, and Insomnia
Drugs for Pulmonary Disorders
Drugs for Psychoses & Degenerative Diseases of the Nervous System
Drugs for Pain Control
Drugs for Skin Disorders
Drugs for Inflammation, Allergies, & Immune Disorders
Drugs for Muscle, Bone & Joint Disorders
Drugs for the ANS Autonomic Nervous System
Drugs for Kidney, Acid-Base, and Electrolyte Disorders
Drugs for GI Disorders
Drugs for Lipid Disorders
Drug Classes, Schedules, & Categories


11 June 2009

Human Reproduction and Development

Human Reproduction and Development

Human Gonads
* Primary sexual organs where genes are packaged into gametes
o Male - testes
o Female - ovaries
* Secrete sex hormones
o Regulate secondary sexual traits

Male Reproductive System
vas deferens
seminal vesicle
prostate gland
bulbourethral gland

Semen = Sperm + Secretions
* Secretions from epididymis aid sperm maturation
* Seminal vesicle secretes fructose and prostaglandins
* Prostate-gland secretions buffer pH in the acidic vagina
* Bulbourethral gland secretes mucus

Prostate Cancer
* Second leading cause of death in American men
* Detection

Testicular Cancer
* About 5,000 U.S. cases per year
* Can be detected by self exam

* Spermatogonium (2n) divides by mitosis to form primary spermatocyte (2n)
* Meiosis produces haploid spermatids
* Spermatids mature to become sperm

Other Testicular Cells
* Sertoli cells
* Leydig cells

Male Hormonal Control
Anterior Pituitary
Sertoli Cells
Leydig Cells
Formation and Development of Sperm
Female Reproductive Organs
Menstrual Cycle
* The fertile period for a human female occurs on a cyclic basis
* Menstrual cycle lasts about 28 days
* Follicular phase and luteal phase

Oocytes Arrested in Meiosis I
* Girl is born with primary oocytes already in ovaries
* Each oocyte has entered meiosis I and stopped
* Meiosis resumes, one oocyte at a time, with the first menstrual cycle

Menarche to Menopause
* First menstruation, or menarche, usually occurs between ages 10-16
* Menstrual cycles continue until menopause, in a woman’s late 40s or early 50s

Ovarian Cycle
secondary oocyte
primordial follicle
corpus luteum
first polar body
* Follicle grows and matures
* Ovulation occurs
* Corpus luteum forms
Female Hormonal Control
Anterior pituitary
follicle growth,
oocyte maturation
Rising estrogen stimulates surge in LH
Corpus luteum
Cycle Overview
anterior pituitary
Early Divisions
Blastocyst Forms
Implantation Begins
inner cell mass
Uterine cavity
Human Chorionic Gonadotropin (hCG)
Extraembryonic Membranes
yolk sac
chorionic cavity
chorionic villi
amniotic cavity
connecting stalk
Gastrulation - Day 15
Vertebrate Body Plan Emerges
The Placenta
Embryonic Period
Fetal Period
Fetal Nutrition
Birth (Labor)
Stages of Human Development - Prenatal
* Zygote - Single cell
* Morula - Solid ball of cells
* Blastocyst - Ball with fluid-filled cavity
* Embryo - 2 weeks to 8 weeks
* Fetus - 9 weeks to birth
Stages of Human Development - Postnatal
* Newborn - First 2 weeks after birth
* Infant - 2 weeks to 15 months
* Child – To 10-12 years
* Pubescent - At puberty
* Adolescent - Puberty to maturation
* Adult
* Old age
Birth Control Options
Prevent fertilization
Prevent ovulation
Block implantation
Safer Sex
Bacterial STDs
Pelvic Inflammatory Disease (PID)
Viral STDs

Human Reproduction and Development.ppt


Introduction to the Male Half of Reproductive Biology

Introduction to the Male Half of Reproductive Biology
By:Genevieve Griffiths
University Of Delaware

Why Study Sperm Biology?
* One in six couples are infertile.
* In 40 per cent of cases the problem lies exclusively with the male, known as Male Factor Infertility.
* One in 25 males have a low sperm count, and one in 35 are sterile.
* With appropriate treatment, many couples struggling with male factor infertility are able to conceive.

Sexual Reproduction
* Occurs when two gametes (sperm + egg, 1N or ½ genome) combine genetic material (DNA) to form a zygote (embryo, 2N or 1 genome)
* Recombination permits genetic flexibility within a population (can lead to evolution)
* Offspring have characteristics from both parents as well as those unique from parents
* Sperm production is known as spermatogenesis
* Five mitotic divisions produce 16 primary spermatocytes from a single cell
* Two meiotic divisions produce 64 spermatids

* Mitosis (2N (46 chromosomes) to 2N) must occur to create many cells from a single cell
* Meiosis (2N to 1N (23 chromosomes)) must occur to divide DNA in half

After meiosis, sperm dramatically change shape
Testes and Epididymis
* Spermatogeneis occurs in the seminiferous tubules of the testes
* Sperm maturation occurs in the epididymis

Immature Sperm
Mature Sperm
Mammalian Fertilization
Mammalian Fertilization

Introduction to the Male Half of Reproductive Biology.ppt


Male Female Reproductive System

Male Female Reproductive System

Male Reproduction -Testis
* Compartments
Testicular cell types
* Germ cells - spermatogenesis
Molecular Structure of LH and FSH
Resting cell and 3 active cells
Mitotic divisions
Type B spermatogonia
1o spermatocytes
Meiosis I
2o spermatocytes
Mitotic divisions
Meiosis II
Sperm Maturation vs Capacitation
Sperm vs Seminal Plasma vs Semen
Somatic cells
Sertoli cell function
Major Actions of Testosterone
Actions of androgens and metabolites
* Estrogens
Relative abundance of steroids in males and females
Major Components of the Reproductive Female System
GnRH pulse generator
Progesterone Effects on the Pulse Generator
Effects of Estradiol on the Pulse Generator
Ovarian Cell Types
Germ Cells
Stages of Follicular development
Corpus Luteum formation
Ovarian Cycle
Human Menstrual Cycle
Maternal Recognition of Pregnancy
Physiological effects of ovarian steroids
* Estrogens
* Progesterone
Sexual Differentiation
Duct Development
External Genitalia
Response to dihydrotestosterone
Sexual Differentiation of the Hypothalamus

Male Female Reproductive System.ppt




* Not for Homeostasis; Instead to Perpetuate the Species
* Sexual Reproduction Results in Genetic Variability
* Internal Fertilization & Gestation
* One Offspring per Pregnancy is Typical

* Production & Support of Gametes
* Formation, Transport & Delivery of Sperm
* Formation & Transport of Ova
* Protect & Support Developing Embryo, and Nourish Fetus
* Deliver the Fetus

REPRODUCTIVE SYSTEM: Overview of Anatomy
* Reproductive Organs
* Associated Ducts
* Accessory Glands
* External Genitalia

* From the Greek for “witness” (e.g., testify)
* Essential organs of reproduction in the male (Male Gonad)
* Site of sperm production
* Suspended in scrotum by spermatic cord
* Oval, ~4.5 cm long, 10.5 - 14 gms

* Pouch of skin and fascia evaginated from anterior abdominal wall
* Subdivided into two lateral compartments, indicated by Raphe (Ridge)
* Houses testes, keeps them cool (93F)
* Cremaster muscle brings testes closer to body
* Dartos muscle causes wrinkling

* Develop initially in abdominal cavity (retroperitoneally)
* Descend into scrotum
* Seminiferous tubules: Sites of sperm production
* Interstitial Cells: Secrete Testosterone
* Efferent ductules: Carry sperm from testes
* Epididymis:

* Contains structures passing to and from testes
* Coverings derived from abdominal wall
* Contents include:
o Vas deferens
o Spermatic artery and vein
o Spermatic nerve
o Lymph vessel

* Carries sperm from epididymis to seminal vesicle
* Passes through inguinal canal into body cavity
* Crosses surface of urinary bladder
* Joins with duct of seminal vesicle to form the ejaculatory duct
* Vasectomy

* Paired structures posterior to urinary bladder
* Secrete ~60% of seminal fluid
* Fluid is sugary, alkaline
* Rich in carbohydrates, Vitamin C

* Located inferior to urinary bladder, anterior to rectum
* Surrounds prostatic urethra
* Secretes ~25% of seminal fluid
* Enzymes to Liquify Semen

* Also called Cowper’s glands
* Lateral to membranous urethra
* Secrete a drop of alkaline mucus
o Cleans, lubricates urethra


* Male copulatory organ
* Functions to introduce sperm into female
* Consists of three erectile bodies
o Two corpora cavernosa
o One corpus spongiosum

* Corpus spongiosum
* Corpora cavernosa
* Prepuce (foreskin):

o Occurs in seminiferous tubules
o Spermatogonia divide mitotically
o One Spermatocyte eventually gives rise to Four Sperm via meiosis
o Y Sperm are Smaller, Faster, Prefer Alkaline Environment
o X Sperm are Larger, Stronger, Prefer Acidic Environment

* Erection
o Arteries dilate, increasing blood in spongy tissue
o Constricts veins, causes erection
* Ejaculation (expulsion)
o Semen passes through urethra
o Contractions of urethra & penile musculature

* Gonadotropic Hormones
* Testosterone (Male Sex Hormone)

* Female Gonad
* All ova arrested at prophase I at birth
* Paired, oval, almond sized
* Supported by ligaments

* Site of Fertilization
* Paired, ~10 cm long
* Attach to uterus, one on each side
* Transport via Cilia & Peristalsis

* Usually unpaired; hollow, muscular, pear-shaped organ
* Receives uterine tubes, empties into vagina
* Site of Implantation & Development
* Supported by ligaments
* Uterine wall has three layers

* Fundus: Arches above entry of uterine tubes
* Body: Large triangular lumen
* Isthmus: Narrowed region
* Cervix:

* Functions:
* Located between urethra and rectum
* Lined with stratified squamous E.T.
* Acidic environment (Resident Bacteria)
* Fornix: Circular recess around cervix; upper portion of vagina
* Hymen:
* Bartholin’s glands:

FEMALE ANATOMY: VULVA (External Genitalia)
* Mons pubis: Fatty mound
* Labia majora: Outer Folds of skin, Homologous to scrotum
* Labia minora: Inner folds, Encircle clitoris, forming prepuce
* Clitoris: Homologous to penis, corpora cavernosa

* Foreskin or Prepuce
* Function – Sexual Pleasure
* Orgasm controlled by Sympathetic Division of ANS

* Structurally – Integument
* Functionally – Reproductive

* Four hormones involved:

* Includes:

* Up to 20 follicles begin maturation process monthly
* Only one secondary follicle reaches maturity
* Others undergo atresia (degradation)
* Controlled primarily by FSH
* Causes follicle cells to secrete estrogen

* Caused by LH surge
* Day 14 (28-day cycle)
* Expels ovum into abdominal cavity
* Fimbriae on uterine tube sway vigorously, produce a current
* Fimbriae scratch Graafian follicle, rupture it, pull ovum into tube

* Ruptured Graafian follicle becomes corpus luteum
* Corpus luteum secretes estrogen, progesterone
* Maintains endometrial lining during pregnancy


* Proliferative phase
o Follows Menstruation
o Estrogen from follicle stimulates proliferation of endometrium
* Secretory phase
o Follows Ovulation
o Progesterone from corpus luteum stimulates secretion by endometrium
* Menstrual phase



Intro to Psychology

Intro to Psychology
from bluffton.edu

Methods of Empirical Research
Behavioral Approach
Biological Psych
Social Influence
Cultural/Systemic Approach: Family Systems
Sensation & Perception
The Cognitive Approach
Psychological Disorders
Clinical/Counseling Psychology
Developmental Psychology
Faith Development


10 June 2009

Expanded Newborn Screening: The Nutrition Perspective

Expanded Newborn Screening: The Nutrition Perspective
By:Beth Ogata, MS, RD

Nutrition Involvement in NBS
* Policy
* Diagnostic/coordination
* Clinical
* Community
Example: infant with galactosemia
* Symptoms in newborn, if untreated
o Vomiting, diarrhea
o Hyperbilirubinemia, hepatic dysfunction, hepatomegaly
o Renal tubular dysfunction
o Cataracts
o Encephalopathy
o E. coli septicemia result
o Death within 6 weeks, if untreated
o Duarte variant
o galactokinase deficiency
o uridine diphosphate-galactose-4-epimerase deficiency
Galactose-1-phosphate uridyl transferase (GALT) deficiency
Example: infant with galactosemia
* Primary source is milk (lactose= galactose + glucose)
* Secondary sources are legumes
* Minor? sources are fruits and vegetables
* Food labels
o milk, casein, milk solids, lactose, whey, hydrolyzed protein, lactalbumin, lactostearin, caseinate
* Medications (lactose is often an inactive ingredient)
* Dietary supplements
* Artificial sweeteners
Monitoring: galactose-1-phosphate levels <3-4 mg/dl
Treatment: eliminate all galactose from diet

Example: Infant with galactosemia
RD as case manager
Nutrition and NBS: Policy
Nutrition and NBS: Clinical Management – PKU
* Phenylketonuria
o Phenylalanine hydroxylase
o Dihydropteridine reductase
o Biopterin synthetase
* Establish diagnosis
o Presumptive positive NBS results
+ > 3 mg/dL, >24 hrs of age
o Differential diagnosis
+ serum phe, nl tyr
+ r/o DHPR, biopterin defects

Current Treatment Guidelines
* With effective NBS, children are identified by 7 days of age
* Initiate treatment immediately
* Maintain phe levels 1-6 mg/dl (60-360 umol/L)
* Lifelong treatment
Outcome Expectations
Clinical Management: PKU
Goals of Nutrition Therapy
* Normal growth rate
* Normal physical development
* Normal cognitive development
* Normal nutritional status
* Correct substrate imbalance
* Supply product of reaction
o Supplement tyrosine to
Goals of Nutrition Support for Phenylketonuria (PKU)
Interpretation of phenylalanine levels
Adjustments necessary to maintain “safe” blood phe levels
Management Tools
Formula Composition
* Regulated by FDA
o Renal solute load
o Carbohydrate source
o Fat source
o Amino acid source
o Vitamin and mineral content
* Designated by clinician
o Protein/energy ratio
o Specific amino acid
o Fluid balance
o Total protein
o Total energy
Effect of a single amino acid deficiency on growth
Food Choices for PKU
Tools of Management: Low protein food products
Typical Food Pattern for a Child with PKU
Monitoring Adequacy of Treatment
Effective Blood Level Management in Childhood
Self-management Skills
Goal of Lifetime Management of PKU
Maternal PKU Concerns/Outcomes
Nutrition and NBS: Community – Glutaric Acidemia, type I
Glutaryl-CoA dehydrogenase deficiency
Example: Infant with GAI
Nutrition and NBS: Community
The baby has a “positive PKU test
Critical Questions about Follow-up and Coordination of Treatment
What you need to know
Caveats to Ponder

Expanded Newborn Screening: The Nutrition Perspective.ppt


Quick Reference to Newborn Screening Disorders

Quick Reference to Newborn Screening Disorders

Biotinidase Deficiency - BIOT is an enzyme deficiency that occurs in about 1 in 60,000 U.S. newborns and can result in seizures, hearing loss, and death in severe cases. Treatment is simple and involves daily doses of biotin.

Congenital Adrenal Hyperplasia – 21-Hydroxylase Deficiency - CAH is caused by decreased or absent production of certain adrenal hormones. The most prevalent type is detected by newborn screening in about 1 in 9,000 Texas newborns. Early detection can prevent death in boys and girls and sex misassignment in girls. Treatment involves lifelong hormone replacement therapy.

Congenital Hypothyroidism Inadequate or absent production of thyroid hormone results in CH and is present in about 1 in 2,000 Texas newborns. Thyroid hormone replacement therapy begun by 1 month of age can prevent mental and growth retardation.

Galactosemia – Galactose-1-Phosphate Uridyltransferase (GALT) Deficiency - Failure to metabolize the milk sugar galactose results in GAL and occurs in about 1 in 50,000 U.S. newborns. The classical form detected by newborn screening can lead to cataracts, liver cirrhosis, mental retardation and/or death. Treatment is elimination of galactose from the diet usually by substituting soy for milk products.

Homocystinuria - HCY is caused by an enzyme deficiency that blocks the metabolism of an amino acid that can lead to mental retardation, osteoporosis and other problems if left undetected and untreated. The incidence is approximately 1 in 350,000 U.S. newborns. Treatment may involve a restricted protein diet and supplemental medicines, including Vitamin B6.

Maple Syrup Urine Disease (MSUD) - MSUD is a defect in the way that the body metabolizes certain amino acids and is present in about 1 in 200,000 U.S. newborns. Early detection and treatment with a restricted protein diet can prevent death and severe mental retardation. There is an increased risk in Mennonites.

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency - The most common disorder in the way the body metabolizes fatty acids is called MCAD deficiency. Undetected, it can cause sudden death. Treatment is simple and includes ensuring frequent food intake. The incidence from newborn screening is not yet known, but is thought to be approximately 1 in 15,000 U.S. newborns.

Phenylketonuria (PKU) - An enzyme defect that prevents metabolism of phenylalanine, an amino acid essential to brain development, is known as PKU and occurs in approximately 1 in every 23,000 Texas newborns. Undetected and untreated with a special restricted protein diet, PKU leads to irreversible mental retardation.

Sickle Cell Disease (SCD) – includes Sickle Cell Anemia (Hb SS), Sickle Beta Thalassemia (Hb S/?Th) and Sickle-Hemoglobin C Disease (Hb S/C) - Sickle cell anemia is the most prevalent SCD and causes clogged blood vessels resulting in severe pain and other severe health problems. Newborn screening detects about 1 in 2,500 Texas newborns with SCD annually. Persons of African or Mediterranean descent are at an increased risk. Early treatment with daily penicillin prevents death in the first few years of life.

Tyrosinemia Type I -TYR is caused by a deficiency in the liver of one enzyme that breaks down tyrosine. If not treated, the condition causes severe liver disease and other health problems. Treatment consists of medication including vitamin D and nitisinone, and a special restricted protein diet. Estimated incidence is 1 case in every 100,000 live births.

Fatty Acid Oxidation (FAO) Disorders include Carnitine Uptake Defect (CUD), Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD), Trifunctional Protein Deficiency (TFP) and Very-Long-Chain Acyl-Co A Dehydrogenase Deficiency (VLCAD) - Disorders besides MCAD deficiency, other FAO disorders may be detected through newborn screening. They are usually described in categories based on the length of the fatty acid involved. Undetected and untreated they can cause seizures, coma, and even death. Treatment may include a low fat diet, frequent food intake, supplementation with L-Carnitine (Carnitor) and medium chain triglycerides.

Organic Acid (OA) Disorders include 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC), Beta-Ketothiolase Deficiency (BKD), Glutaric Acidemia Type I (GAI), Hydroxymethylglutaric Aciduria (HMG), Isovaleric Acidemia (IVA) Methylmalonic Acidemia(MMA) (Cbl A and Cbl B forms) ( Cbl A,B), Methylmalonic Acidemia (mutase deficiency form) (MUT), Multiple Carboxylase Deficiency (MCD) and Propionic Acidemia (PROP) - Organic acidemias are a group of metabolic disorders that lead to accumulation of organic acids in the blood and urine and may be detected in newborn screening through analysis of acylcarnitine profiles. Symptoms can be diminished by restricting protein in the diet and supplementation with vitamins and/or L-Carnitine.

Urea Cycle Disorders (UCD) include Argininosuccinic Acidemia (ASA) and Citrullinemia (CIT) - A UCD is a genetic disorder caused by a deficiency of one of the enzymes responsible for removing ammonia from the blood stream. Some UCDs may be detected as a part of newborn screening. They are characterized by seizures, poor muscle tone, respiratory distress, and coma, and result in death if left undetected and untreated. Treatment is by a special restricted protein diet and medications including phenylbutyrate to remove ammonia.

Quick Reference to Newborn Screening Disorders.ppt


What’s New in Newborn Screening

What’s New in Newborn Screening
By:Kathy Tomashitis, MNS, RD
Pediatric Screening Coordinator
Division of Women and Children’s Services, SC DHEC

Newborn Screening Expansion
* Newborn screening began in South Carolina in the mid-1960’s with testing for phenylketonuria (PKU)
* Over the years, the test panel has expanded as improvements in technology occurred and as research indicated benefit of pre-symptomatic detection for specific disorders

Newborn Screening-Why Expand the Test Panel
* Several factors have lead to the current expansion
o Technological advances: increased use of tandem mass spectrometry (MS/MS) in newborn screening applications and improvement in the screening protocol for cystic fibrosis
o Improved morbidity/mortality: research supports improved outcomes for pre-symptomatic identification of cystic fibrosis as well as disorders found through MS/MS; research has long recognized benefit of screening for biotinidase deficiency
o Cost benefit: research supports pre-symptomatic identification of fatty acid, amino acid and organic acid disorders found through MS/MS
* SC health care providers support expanded screening
o Survey of all newborn health care providers in SC conducted in 11/00: top three conditions recommended for expansion include cystic fibrosis, LCHADD ( a fatty acid oxidation disorder) and biotinidase deficiency
o Newborn Screening Advisory Committee recommended step-wise expansion to include cystic fibrosis, biotinidase deficiency and disorders found through MS/MS
* Growing awareness in disparity across states in conditions included in newborn screening test panel
* Expansion would provide SC infants with one of the most comprehensive test panels in US
* Consumer groups such as the March of Dimes support expanded test panels

Newborn Screening Expansion
* Current test panel includes screening for PKU, congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia (CAH), medium chain acyl co-A dehydrogenase deficiency (MCADD) and hemoglobinopathies
Newborn Screening Expansion-Cystic Fibrosis
* Cystic fibrosis is a genetic disorder that is found in 1:3500 Caucasian and 1:17,000 African American births
* CF is a recessive genetic disorder. Risk of recurrence is 1:4 with each pregnancy.
* In CF, the pulmonary and gastrointestinal systems are severely compromised.
* Fluids that are normally thin and slippery become thick and sticky
* Infections are treated aggressively
* Chest physiotherapy used to clear lungs
* Pancreatic enzymes used to aid digestion
* Screening will include measurement of immunoreactive trypsinogen (IRT)
* If the IRT is above a set level, a repeat IRT will be requested.
* If the IRT is still above normal limits on the second specimen, the infant will be referred to a CF center for sweat testing
* Sweat testing is still the “gold standard” for confirmation
* DNA testing for the most common CF mutations may be added to the screening protocol in the future

Newborn Screening Expansion-Biotinidase Deficiency
* Biotinidase deficiency is a recessive genetic disorder with a prevalence of 1:60,000 births (ethnic difference in prevalence not established)
* Like CF, risk of recurrence is 1:4 with each pregnancy
* Affected infants cannot utilize biotin, a vitamin found in foods, including breastmilk and infant formula
* Leads to developmental delay, seizures, hair loss, hearing loss, skin disorders and immunodeficiency
* Treated by giving infant biotin in the form of a crushed pill or capsule mixed into milk or food
* Screening will involve direct measurement of biotinidase
* False positive rates should be low

Newborn Screening Expansion-Fatty Acid, Amino Acid and Organic Acid Disorders
* Fatty acid, amino acid and organic acid disorders are individually rare, but occur with a combined frequency of 1:5000 to 1:6000 births
* Screening will include measurement of an acyl carnitine profile and an amino acid profile
* MS/MS is very precise, but interpretation is complex
* REMINDER--MS/MS can identify many, but not all metabolic disorders

Newborn Screening Expansion-Fatty Acid Disorders
* Most common FA disorder—MCADD—is part of the current test panel
* Expansion will add seven additional FA disorders
* All are recessive genetic disorders so risk of recurrence is 1:4 with each pregnancy
* Symptoms of most FA disorders
o Hypoketotic hypoglycemia
o Muscle weakness
o Seizures
o Sometimes cardiomyopathy
* Treatment of most FA disorders
o Avoid fasting
o Immediate medical attention when unable to eat usual diet
o Control type/amount of fat in diet depending upon the specific diagnosis
o Carnitine if indicated
o Cornstarch tube feeding at night if indicated
o Ensure immunizations are up-to-date
o Treat infections promptly
o All patients should keep an “emergency protocol” letter with them at all times
* Short chain acyl co-A dehydrogenase deficiency (SCADD)
o Estimated incidence is 1:40,000 to 1:100,000
o Outcomes of known patients highly variable, but may be less severe than other FA disorders
* Long chain 3 OH co-A dehydrogenase deficiency/Trifunctional protein defect (LCHADD/TFP)
o Unknown incidence
o Differential diagnosis needed to separate LCHADD from TFP
o Cardiomyopathy and retinal changes
o HELLP/AFLP in 20% of affected pregnancies
* Very long chain acyl co-A dehydrogenase deficiency (VLCADD)
o Unknown incidence
o Some infants have cardiomyopathy
o Good outcome when treated presymptomatically
* Glutaric aciduria type II (GA II)
o Not thought to be rare, but incidence unknown
o Outcomes variable based upon phenotype
o Riboflavin supplementation useful in some mild cases
* Carnitine Palmitoyltransferase II deficiency (CPT II)
o Unknown incidence
o Muscle weakness, pain and myoglobinuria prompted by prolonged exercise
o 80% affected patients have been male
o Cardiac dysfunction rare
* Carnitine/acylcarnitine translocase deficiency (CACT)
o Thought to be very rare
o Long term outcome not clearly known
* Expansion will add eleven OA disorders
* Most are recessive disorders so risk of recurrence is 1:4 with each pregnancy
* A few sub-types are X-linked so only males are affected, but females may show milder symptoms
* Symptoms of most OA disorders
o Feeding problems
o Seizures
o Metabolic acidosis
o Lethargy
* Treatment of most OA disorders
o Avoid fasting
o Immediate medical attention when unable to eat usual diet
o Control type/amount of protein in diet depending upon the specific diagnosis
o Carnitine if indicated
* Propionic acidemia (PA)
o Estimated incidence is 1:100,000
o Oral antibiotics may be useful to decrease gut propionate
o Biotin if helpful
o Continuous overnight feeds helpful in some patients
* Methylmalonic acidemia (MMA)
* Isobutyrul co-A dehydrogenase deficiency (IBCDD)
o Thought to be very rare
* Isovaleric acidemia (IVA)
* 2 methylbutyryl co-A dehydrogenase deficiency (2-MBCDD)
* 3 methylcrotonyl co-A carboxylase deficiency (3-MCC)
* Beta ketothiolase deficiency
* 3 methyl 3-OH glutaryl co-A lyase deficiency (HMGLD)
* 3 methylglutaconyl co-A hydratase deficiency

Newborn Screening Expansion-Organic Acid Disorders
* Multiple carboxylase deficiency (MCD)
o Estimated incidence is 1:87,000
o Diet restriction NOT indicated
o Most cases are biotin responsive
o Biotin enhances the function of the carboxylase enzymes
o Not the same as biotinidase deficiency!
* Glutaric aciduria type I (GA I)
o Estimated incidence is 1:40,000
o Very important to proceed directly to diagnostic testing with any elevation
o Must treat fever aggressively
o Hospital admission mandatory for IV’s with any vomiting illness
o Prone to subdural hemorrhages and retinal hemorrhages after minor head trauma (ie, fall when learning to walk)
o Can be misdiagnosed as child abuse
o May have profuse sweating

Newborn Screening Expansion-Amino Acid Disorders
* Most common AA disorder—PKU—is part of the current test panel
* Expansion will add four additional AA disorders
* All are recessive genetic disorders so risk of recurrence is 1:4 with each pregnancy
* Symptoms and treatments vary by disorder
* Homocystinuria
* Maple syrup urine disease (MSUD)
* Citrullinemia
* Argininosuccinic aciduria
Testing and Follow-up
Challenges in Ensuring Complete Follow-up

What’s New in Newborn Screening.ppt


Newborn Screening

Newborn Screening
By:Dietrich Matern, M.D., FACMG
Biochemical Genetics Laboratory
Mayo Clinic College of Medicine
Rochester, MN

• Demonstrate a deeper understanding of newborn screening (NBS);
• Be aware of available tools to react appropriately to abnormal results.
* What is Newborn Screening?
* Impact on Medical Practice
* What’s next in newborn screening?

What is Biochemical Genetics?
To achieve early detection and prevention of disease, Biochemical Genetics has a strong emphasis on screening based upon the analysis and interpretation of metabolic profiles in body fluids and tissues:

* Prenatal diagnosis (at risk patients)
* Newborn screening (pre-symptomatic patients)
* High risk screening (symptomatic patients)
* Postmortem screening (metabolic autopsy)

Newborn Screening
* aimed at identification of conditions for which early intervention can prevent
- mortality
- morbidity
- disabilities
* performed by analysis of diagnostic markers in blood spots collected on filter paper on the second day of life

Treatment: Phe-restricted diet
Prognosis: excellent with initiation of treatment shortly after birth
The Traditional NBS Model (Testing as SIMPLE as Possible)

MCAD Deficiency
Drivers of Expansion
Acylcarnitine Analysis
NBS by MS/MS (Multiplex Testing)
Primary Evaluation Criteria of Conditions Considered for Newborn Screening
Impact on Medical Practice Pediatrics/Family Medicine only?
Case Report
Maternal Disease Identified by Newborn Screening
2nd Tier Tests
Changing CAH Screening in MN
Partial List of Candidate Conditions
Familial Hypercholesterolemia

Newborn Screening.ppt


Newborn Screening in Wisconsin

Newborn Screening in Wisconsin

What Is Newborn Screening?

* Newborn screening is the process of testing a population of newborns to identify those affected with certain treatable disorders early on, preventing potentially serious medical complications
* Newborn screening programs include:
o Testing - Treatment
o Follow-up - Education for parents/providers
o Confimatory Diagnosis

* Every state in the US has a newborn screening program
* No federal guidelines for newborn screening
* Newborns in WI are screened for “48” different disorders, including hearing
* Screening decreases morbidity and mortality, and increases quality of life for babies with these disorders
* Testing and parental notification are required by state law
* Requires that parents be informed of testing
o “No tests may be performed…unless the parents or legal guardian are fully informed of the purposes of testing…and have been given reasonable opportunity to object…”
* Parents may refuse based on religion
o “This section shall not apply if the parents… object...on the grounds that the test conflicts with their religious tenets and practices

Why Is Newborn Screening Done?
* Early identification and treatment of newborns affected with certain congenital disorders can prevent serious medical complications
* Cannot test for every congenital disorder; Criteria for testing must be met

Newborn Screening Criteria
* Occurs in at least 1/100,000 births
* Detection in the neonatal period leads to a demonstrable reduction in morbidity and mortality
* Potential for effective therapy
* Reasonable cost
* Laboratory feasibility
* Because PKU was the first disorder screened for, newborn screening is sometimes mistakenly called the “PKU test”

How Are Samples Taken?
* Heel prick
* Fill all circles and allow card to dry completely
* Send cards to State Laboratory of Hygiene within 24 hours of collection
* Samples are run the day they are received
* Specimens with all normal results available within 48 hours
* Color scheme used for reports
o White paper = normal results
o Gold paper = definite abnormal
o Blue paper = possible abnormal

Results Reporting
* Physician is contacted immediately whenever a result is abnormal
o Physician contacts the parents and arranges any follow-up testing necessary
o Immediate notification important for treatment in some disorders

Newborn Screening in Wisconsin.ppt


08 June 2009

Tonsillectomy, and Adenoidectomy

Tonsillectomy, and Adenoidectomy
By:Babak Saedi
Assistant professor of Tehran university

* Plica triangularis
* Gerlach’s tonsil
* Fossa of Rosenmüller
* Passavant’s ridge
Blood Supply
* Ascending and descending palatine arteries
* Tonsillar artery
* 1% aberrant ICA just deep to superior constrictor

* Ascending pharyngeal, sphenopalatine arteries
* Specialized squamous
* Extrafollicular
* Mantle zone
* Germinal center
* Ciliated pseudostratified columnar
* Stratified squamous
* Transitional
Common Diseases of the Tonsils and Adenoids
* Acute adenoiditis/tonsillitis
* Recurrent/chronic adenoiditis/tonsillitis
* Obstructive hyperplasia
* Malignancy
Acute Adenotonsillitis
GABHS most important pathogen because of potential sequelae
* Throat culture
* Treatment
Microbiology of Adenotonsillitis
* Streptococcus pyogenes (Group A beta-hemolytic streptococcus)
* H.influenza
* S. aureus
* Streptococcus pneumoniae
Tonsil weight is directly proportional to bacterial load.
Acute Adenotonsillitis
Differential diagnosis
Infectious mononucleosis
Malignancy: lymphoma, leukemia, carcinoma
Scarlet fever
Medical Management
Obstructive Hyperplasia
Unilateral Tonsillar Enlargement
Apparent enlargement vs true enlargement
* Acute infective
* Chronic infective
* Hypertrophy
* Congenital
Peritonsillar Abscess
ICA Aneurysm
Pleomorphic Adenoma
Other Tonsillar Pathology
* Hyperkeratosis, mycosis leptothrica
* Tonsilloliths
Retention Cysts
Supratonsillar Cleft
Indications for Tonsillectomy
Indications for Adenoidectomy
* Chronic nasal obstruction or obligate mouth breathing
* OSA with FTT, cor pulmonale
* Dysphagia
* Speech problems
* Severe orofacial/dental abnormalities
* Recurrent/chronic adenoiditis (3 or more episodes/year)
* Recurrent/chronic OME (+/- previous BMT)
PreOp Evaluation of Adenoid Disease

* Triad of hyponasality, snoring, and mouth breathing
* Rhinorrhea, nocturnal cough, post nasal drip
* “Adenoid facies”
* “Milkman” & “Micky Mouse”
* Overbite, long face, crowded incisors
PreOp Evaluation of Adenoid Disease
Differential diagnoses
* Allergic rhinitis
* Sinusitis
* For concomitant sinus disease, treat adenoids first
Evaluate palate
* Symptoms/FH of CP or VPI
* Midline diastasis of muscles, bifid uvula
* CNS or neuromuscular disease
* Preexisting speech disorder?
Avoid gagging the patient
#1 Postoperative bleeding
* Sore throat, otalgia, uvular swelling
* Respiratory compromise
* Dehydration
* Burns and iatrogenic trauma
Rare Complications
* Velopharyngeal Insufficiency
* Nasopharyngeal stenosis
* Atlantoaxial subluxation/ Grisel’s syndrome
* Regrowth
* Eustachian tube injury
* Depression
* Laceration of ICA/ pseudoaneursym of ICA

Tonsillectomy, and Adenoidectomy.ppt


Tonsillitis, Tonsillectomy, and Adenoidectomy

Tonsillitis, Tonsillectomy, and Adenoidectomy
by:Professor Sameer Bafaqeeh, M.D.
Otolaryngology Department

* Plica triangularis
* Gerlach’s tonsil
* Fossa of Rosenmüller
* Passavant’s ridge

Blood Supply
* Specialized squamous
* Extrafollicular
* Mantle zone
* Germinal center

* Ciliated pseudostratified columnar
* Stratified squamous
* Transitional

Common Diseases of the Tonsils and Adenoids
* Acute adenoiditis/tonsillitis
* Recurrent/chronic adenoiditis/tonsillitis
* Obstructive hyperplasia
* Malignancy

Acute Adenotonsillitis
GABHS most important pathogen because of potential sequelae
* Throat culture
* Treatment
Microbiology of Adenotonsillitis
Most common organisms cultured from patients with chronic tonsillar disease (recurrent/chronic infection, hyperplasia):
* Streptococcus pyogenes (Group A beta-hemolytic streptococcus)
* H.influenza
* S. aureus
* Streptococcus pneumoniae
Tonsil weight is directly proportional to bacterial load.
Acute Adenotonsillitis
Differential diagnosis
Infectious mononucleosis
Malignancy: lymphoma, leukemia, carcinoma
Scarlet fever
Medical Management
* PCN is first line, even if throat culture is negative for GABHS
* For acute UAO: NP airway, steroids, IV abx, and immediate tonsillectomy for poor response
* Recurrent tonsillitis: PCN injection if concerned about noncompliance or antibiotics aimed against BLPO and anaerobes
* For chronic tonsillitis or obstruction, antibiotics directed against BLPO and anaerobes for 3-6 weeks will eliminate need for surgery in 17%
Obstructive Hyperplasia
* Adenotonsillar hypertrophy most common cause of SDB in children
* Diagnosis
* Indications for polysomnography
* Interpretation of polysomnography
* Perioperative considerations
Unilateral Tonsillar Enlargement
Apparent enlargement vs true enlargement

* Acute infective
* Chronic infective
* Hypertrophy
* Congenital
Peritonsillar Abscess
ICA Aneurysm
Pleomorphic Adenoma
Other Tonsillar Pathology
Retention Cysts
Supratonsillar Cleft
Indications for Tonsillectomy; Historical Evolution
Indications for Tonsillectomy
Paradise study
Indications for Tonsillectomy
Indications for Adenoidectomy
* Chronic nasal obstruction or obligate mouth breathing
* OSA with FTT, cor pulmonale
* Dysphagia
* Speech problems
* Severe orofacial/dental abnormalities

* Recurrent/chronic adenoiditis (3 or more episodes/year)
* Recurrent/chronic OME (+/- previous BMT)
PreOp Evaluation of Adenoid Disease
* Triad of hyponasality, snoring, and mouth breathing
* Rhinorrhea, nocturnal cough, post nasal drip
* “Adenoid facies”
* “Milkman” & “Micky Mouse”
* Overbite, long face, crowded incisors
Differential diagnoses
* Allergic rhinitis
* Sinusitis
* For concomitant sinus disease, treat adenoids first
Evaluate palate
* Symptoms/FH of CP or VPI
* Midline diastasis of muscles, bifid uvula
* CNS or neuromuscular disease
* Preexisting speech disorder?
PreOp Evaluation of Adenoid Disease
Avoid gagging the patient
Down syndrome
Coagulation disorders
Principles of Surgical Management
Numerous techniques:
* Guillotine
* Tonsillotome
* Beck’s snare
* Dissection with snare (Scissor dissection, Fisher’s knife dissection, Finger dissection
* Electrodissection
* Laser dissection (CO2, KTP)
Surgeon’s preference
Criteria for Overnight Observation
* Poor oral intake, vomiting, hemorrhage
* Age < 3
* Home > 45 minutes away
* Poor socioeconomic condition
* Comorbid medical problems
* Surgery for OSA or PTA
* Abnormal coagulation values (+/- identified disorder) in patient or family member
#1 Postoperative bleeding

* Sore throat, otalgia, uvular swelling
* Respiratory compromise
* Dehydration
* Burns and iatrogenic trauma
Rare Complications
* Velopharyngeal Insufficiency
* Nasopharyngeal stenosis
* Atlantoaxial subluxation/ Grisel’s syndrome
* Regrowth
* Eustachian tube injury
* Depression
* Laceration of ICA/ pseudoaneursym of ICA
Management of Hemorrhage
* Ice water gargle, afrin
* Overnight observation and IV fluids
* Dangerous induction
* ECA ligation
* Arteriography
Case study
Tonsillitis, Tonsillectomy, and Adenoidectomy.ppt


Tonsillectomy & Adenoidectomy

Tonsillectomy & Adenoidectomy
Definition/Purpose of Procedure

* Removal of tonsils & adenoids by sharp or blunt dissection
* Adenoids are removed to facilitate breathing, prevent recurrent otitis media, and to restore hearing loss due to obstruction of the eustachian tube
Relevant A & P

* Upper aerodigestive tract
o Tonsillitis of the palatine tonsils
* Hypertrophy
* Exams
o H & P
o Visual exam
o C & S
* Preop testing
o CBC: PTT-7 minutes

Special Considerations
* OR table position
* Order of extraction varies
* Best technique (not sterile)
* Surgeon may prefer to stand or sit
* Typical peds
* Adults: under local and sitting up

Surgical Intervention: Anesthesia
* General
o Peds mask induction
o Oral ET tube
o Lubricate and protect eyes

Surgical Intervention: Positioning
* Supine, neck hyperextended
* Supplies and equipment
o Neck roll
o Arm sleds or draw sheet
o Safety strap
o Foam headrest or donut
o Move patient to edge for ease of access
* Special considerations: high risk areas
Surgical Intervention: Skin Prep
Surgical Intervention: Draping/Incision
* Head wrap or cover sheet
* Peritonsillar incision
Surgical Intervention: Supplies
* General
small basin
* Specific
* Suture: 2-0 plain heavy, tapered 5/8 in needle
* Meds: local of choice (marcaine or lidocaine w/epinephrine)
Surgical Intervention: Instruments
* T & A set
* Sitting stool
* Headlamp
* ? Harmonic scalpel
* Suction apparatus
Procedure Steps
* See Exemplar and Procedure 17-6 STST

* Initial: sponges and sharps
* First closing
* Final closing
o Sponges
o Sharps
Specimen & Care
* Rt and left tonsils and adenoids
o Ask about separating—may “tag rt w/safety pin”
Postoperative Care
* Destination PACU—outpatient
* Position pt on side once extubated
* Elevate HOB
* Cold fluids
* Expected prognosis
o Return to normal activities within 2 wks
o Reduced incident of sore throat & ear infections
* Complications
* Hemorrhage up to 10 days post op
* Infection
* Wound Classification : II—increased for inflammation or infection
Tonsillectomy & Adenoidectomy


07 June 2009

Refresher Course on Cellular Homeostasis

Refresher Course on Cellular Homeostasis
from APS Education online
Organizers:Michael F. Romero, Ph.D. and Jeffrey C. Freedman, Ph.D.

The goal of this Refresher Course was to provide an overview of recent advances in areas of cellular homeostasis. The talks provided information that may not be readily available in a standard textbook.

In the beginning ... There was the cell (ppt file)
Michael F. Romero, Ph.D., Case Western Reserve University

Generation of the Membrane Potential (ppt file)
Steven H. Wright, Ph.D., University of Arizona College of Medicine

Ion Homeostasis, Channels, and Transporters: An Update on Cellular Mechanisms (ppt file)
George R. Dubyak, Ph.D., Case Western Reserve University

Cellular Volume Homeostasis (ppt file)
Kevin Strange, Ph.D., Vanderbilt University

Cellular pH Homeostasis (ppt file)
Walter F. Boron, M.D., Ph.D., Yale University


Refresher Course on Respiratory Physiology

Refresher Course on Respiratory Physiology
from APS Education online

Click on the title for Audio+presentation

  • Introduction
    L. Britt Wilson, Ph.D.
    University of South Carolina School of Medicine
  • Mechanics of Breathing
    John B. West, M.D., Ph.D., D.Sc.
    University of California, San Diego School of Medicine


Refresher Course on GI Physiology

Refresher Course on GI Physiology
from APS Education online

Click on the title for audio+presentation

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