Diagnosis of Bullous Pemphigoid
Bullous Pemphigoid Diagnosis: Book Excerpts
Diagnostic Tests for Bullous Pemphigoid: Online Medical Books
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Vesicular & Bullous Lesions:
Differential Diagnosis
(In a Page: Signs and Symptoms)
Localized
-
Allergic contact dermatitis (e.g. rhus)
–Localized vesicular and bullous eruptions
-
Herpes-zoster or shingles
–Due to reactivation of latent virus
–More common in adults
–Presents as painful vesicles on an
erythematous base in a dermatomal distribution, beginning with fever, dysesthesia, and/or malaise -
Herpes simplex virus
–Herpetic lesions present as painful, recurrent vesicles on an erythematous base
–Type 1 usually affects oral mucosa and vermilion border
–Genital HSV (most commonly HSV-2) may manifest as nonspecific symptoms (e.g., dysuria, urethritis)
-
Bullous impetigo
–Most common in children
–Presents as flaccid vesicles and bullae with honey-colored crust
-
Bites from many insects
-
Many viral infections of childhood can present with focal vesicles, especially hand-foot-andmouth disease
-
Burns and friction blisters
–Common causes of bullae, especially on hands
-
Diabetics can develop bullae on the legs
- Dyshidrotic eczema (pompholyx)
–Causes itching, scaling, and erythema, and minute vesicles and painful fissures
Diffuse
-
Polymorphous light eruption
–Common reaction to ultraviolet light
–Presents as itchy vesicles or erythematous papules on sun-exposed areas
-
Varicella or “chicken pox”
–Presents with vesicles in crops, and in many stages of evolution
-
Stevens-Johnson syndrome and toxic epidermal necrolysis (TEN)
–Most commonly caused by medications
–TEN is life threatening
-
Blistering diseases like bullous pemphigoid, pemphigus vulgaris, and porphyria cutanea tarda present with coalescing vesicles and bullae
Workup and Diagnosis
-
History and physical examination
–Determine whether the lesions are focal or diffuse
–Thorough review of systems
-
Culture from bullous lesions is not usually indicated, because most bullous reactions to bacteria are due to toxin production; thus, the bacteria are not commonly found within the bulla itself
-
If HSV-2 (genital herpes) is the suspected etiology of a vesicular eruption, viral culture is the gold standard for diagnosis; obtain a culture by lancing an intact vesicle and swabbing the contents and floor of the erosion; serum IgM and IgG antibodies can also aid in the diagnosis
-
Suspected orolabial HSV-1 infection is diagnosed on the basis of a history of similar recurrent episodes
-
Consider a viral etiology if the patient has low-grade fevers, myalgias, pharyngitis, or other systemic symptoms
-
Skin biopsy is indicated if an autoimmune blistering disease is suspected. PCT, pemphigus, and pemphigoid have distinct microscopic features
-
In patients with widespread bullae, also consider incipient toxic epidermal necrolysis. Drugs such as sulfonamides, certain antibiotics, and several anticonvulsants are the most likely causative agents. Skin biopsy may also aid in this diagnosis, but frozen sections must be examined urgently, since this disease can quickly prove fatal
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Source: In a Page: Signs and Symptoms, 2004
Atopic dermatitis:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Typically, the patient has a history of atopy, such as asthma, hay fever, or urticaria; his family may have a similar history. Laboratory tests reveal eosinophilia and elevated serum IgE levels. A skin biopsy may be performed, but it isn’t always required to make the diagnosis.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
Dermatitis:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
A family history of allergy and chronic inflammation suggests atopic dermatitis. Typical distribution of skin lesions rules out other inflammatory skin lesions, such as diaper rash (lesions are confined to the diapered area), seborrheic dermatitis (no pigmentation changes, or lichenification occurs in chronic lesions), and chronic contact dermatitis (lesions affect hands and forearms, sparing antecubital and popliteal areas). Serum IgE levels are usually elevated.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
Vesicular and Bullous Eruptions:
History
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)
A. Age. Newborns develop epidermolysis bullosa, pemphigus neonatorum, and syphilitic pemphigus. Children are more likely to have varicella (if unimmunized); primary herpes simplex; hand, foot, and mouth disease (HFM); and bullous impetigo. Recurrent herpes simplex, porphyria cutanea tarda (PCT), pemphigus vulgaris, dyshidrotic eczema, and dermatitis herpetiformis occur primarily in adults. Bullous pemphigoid and herpes zoster are more common in the elderly. Other vesiculobullous diseases that have no particular age predilection include allergic contact dermatitis, allergic vasculitis, erythema multiforme bullosum (EMB), toxic epidermal necrolysis (TEN), insect bites, and second-degree burns.
B. Season. Varicella, HFM, and primary herpes simplex are often seen in epidemics after gatherings of children. Summer brings more bullous impetigo (from staphylococcal infection) and dyshidrotic eczema (increased sweating of hands and feet). Contact dermatitis caused by Rhus species can be seen in the spring, as people landscape their yards; in the summer, as people spend more time outdoors; and in the fall, as people rake leaves and cut firewood.
C. Special precipitators. Recurrent herpes simplex can be precipitated by trauma, sunlight, wind, menses, dry skin, smoking, drinking alcohol, lack of sleep, and fever. PCT is precipitated by exposure to sunlight, ingestion of drugs metabolized in the liver, and by drinking alcohol (1). EMB can be caused by a viral or bacterial infection or by drug ingestion within 3 weeks preceding the eruption (Chapter 13.2). Allergic vasculitis is usually caused by drugs. Persons with contact dermatitis have been exposed to the allergen 12 to 48 hours before the rash appears.
D. Pain or pruritus. Itching is very common with acute contact dermatitis, dyshidrotic eczema, varicella, dermatitis herpetiformis, and bullous pemphigoid (Chapter 13.5). Before the eruption of recurrent herpes simplex, the site may itch or tingle for a few hours or days; before herpes zoster erupts, the area may burn or mimic internal or visceral pain.
E. Duration. Some diseases are chronic with exacerbations: dermatitis herpetiformis, dyshidrotic eczema, bullous pemphigoid, epidermolysis bullosa, and PCT. Some are episodically recurrent: acute contact dermatitis and herpes simplex. Some occur acutely without preceding episodes: EMB, varicella, bullous impetigo, herpes zoster, allergic vasculitis, HFM, TEN, and pemphigus vulgaris.
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Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
Arthritis/Dermatitis:
Differential Overview
(Field Guide to Bedside Diagnosis)
❑Lyme disease
❑Erythema nodosum
❑Rheumatoid arthritis
❑Systemic lupus erythematosus
❑Psoriatic arthritis
❑Disseminated gonococcemia
❑Sarcoidosis
❑Scleroderma
❑Dermatomyositis
❑Reiter syndrome
❑Rheumatic fever
❑Behçet syndrome
❑Still disease
❑Hypersensitivity vasculitis
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Source: Field Guide to Bedside Diagnosis, 2007
Dermatitis:
Diagnosis
(Handbook of Diseases)
A family history of atopic disorders is helpful in the diagnosis of atopic dermatitis.
Typical distribution of skin lesions and course rule out other inflammatory skin lesions, such as diaper rash (lesions confined to the diapered area), seborrheic dermatitis, and chronic contact dermatitis (lesions affect hands and forearms, sparing antecubital and popliteal areas). Serum IgE levels are commonly elevated but aren’t diagnostic.
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Source: Handbook of Diseases, 2003
Cough - Case 4-2: 7-Week-Old Boy:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 7-week-old boy presented to his pediatrician with a 3-week history of
rhinorrhea, congestion, and cough; previously he was in good health. He had no
history of fever. A chest roentgenogram demonstrated a left lower lobe
infiltrate, and a 10-day course of erythromycin for treatment of pneumonia was
started. At the completion of this antibiotic course, the boy
's mother felt that his respiratory status had improved to some extent, but his
work of breathing was still increased from baseline. Furthermore, his cough was
persistent in nature. One week later, a repeat chest roentgenogram revealed
persistence of the left lower lobe infiltrate, and he was referred for further
evaluation. The review of symptoms revealed good oral intake and normal urine
output.
II. Past Medical History
He was born at 41 weeks' gestation with a birth weight of 3,000 g. There were no pregnancy- or
birth-related complications. He had no history of cyanosis or feeding
difficulties. He was feeding on formula, taking 2 ounces every 2 hours. He had
two older siblings who were both healthy.
III. Physical Examination
T, 37.3°C; RR, 54/min; HR, 153 bpm; BP in right upper extremity, 93/59 mm Hg; BP in left
upper extremity, 87/62 mm Hg; BP in right lower extremity, 94/63 mm Hg; SpO
2, 95% in room air
Weight, 4.5 kg
Initial examination revealed a well-developed infant in moderate respiratory
distress. The physical examination was remarkable for nasal flaring,
intercostal retractions, and intermittent grunting. He had good aeration and
scattered rales at both lung bases. Cardiac examination revealed a normal first
heart sound (S
1) and a prominent second pulmonary sound (P2). A II-III/VI systolic murmur was appreciated at the left sternal border. The
liver edge was palpated 4 cm below the right costal margin. The remainder of
the physical examination was normal.
IV. Diagnostic Studies
Laboratory analysis revealed a peripheral blood count of 8,400 WBCs/mm3, with 35% segmented neutrophils, 60% lymphocytes, and 5% eosinophils. The
hemoglobin was 11.4 g/dL, and there were 203,000 platelets/mm
3. Electrolytes, blood urea nitrogen, and creatinine were all within normal
limits. Antigens of respiratory viruses were not detected by immunofluorescence
of nasopharyngeal washings.
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Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Cough - Case 4-3: 7-Month-Old Girl:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 7-month-old girl was well until 4 days before presentation, when she developed
a cough with fevers to 40.5
°C. On the day of presentation, she developed wheezing and a rash on her trunk
and face. This rash began on her chest and spread to her face. Over the 4 days,
her cough had increased significantly. She received nebulized albuterol twice
at home without relief. Her oral intake and urine output were poor.
II. Past Medical History
She was the full-term product of an uncomplicated vaginal delivery. She had been
to the emergency department three times for wheezing episodes. She was
currently receiving only nebulized albuterol. At the time of presentation, the
patient and her family were living in a shelter. A roommate at the shelter was
recently hospitalized with a rash, fever, and pneumonia.
III. Physical Examination
T, 40.6°C; RR, 60/min; HR, 168 bpm; BP, 102/55 mm Hg; SpO2, 99% in room air
Weight, 50th percentile; height, 75th to 90th percentile
Initial examination revealed an alert baby who was crying but consolable. She
appeared slightly pale. Physical examination was notable for an erythematous
right tympanic membrane and bilaterally injected conjunctiva with yellow
discharge. She had moderate rhinorrhea and some notable buccal thrush. Her
oropharynx was mildly erythematous. The chest examination was remarkable for an
elevated respiratory rate, but there were no retractions. She had fine
expiratory wheezes bilaterally, with decreased breath sounds at both bases. Her
skin exhibited a fine, erythematous, blanching maculopapular rash on her face
and torso (Fig. 4-3) and, to a lesser degree, on her extremities. Her palms and
soles were spared. The rash appeared confluent in her perineal area and torso.
The remainder of her physical examination was unremarkable.
IV. Diagnostic Studies
Laboratory analysis revealed a peripheral blood count of 10,900 WBCs/mm3, with 41% segmented neutrophils, 50% lymphocytes, 8% monocytes, and no band
forms. The hemoglobin was 10.6 g/dL, and there were 290,000 platelets/mm
3. A urinalysis was normal, and a chest roentgenogram revealed mild
hyperinflation and right middle lobe atelectasis with some peribronchial
cuffing.
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Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Cough - Case 4-6: 4-Month-Old Boy:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 4-month-old boy, who was born prematurely at 28 weeks' gestation, presented with a 1-week history of a cough. Over the next 4 days,
his mother reported an increasing cough with no history of fever or rhinorrhea.
He had decreased oral intake and decreased urine output. He had some
posttussive emesis and no diarrhea. His uncle had been sick for the previous 3
weeks with rhinorrhea and a cough.
II. Past Medical History
He was born at 28 weeks' gestation and required endotracheal intubation for a short period after birth.
While in the newborn intensive care unit, he had course of necrotizing
enterocolitis that did not require surgery. He was ultimately discharged home
with an apnea monitor and oral caffeine. However, his mother had recently run
out of this medication, and he was no longer receiving it. He had two siblings
who were healthy.
III. Physical Examination
T, 37.2°C; RR, 27 to 40/min; HR, 138 bpm; BP, not obtained; SpO2, 96% in room air and decreasing to 93% with feeds
Weight, 25th percentile
On examination, he was alert with moderate respiratory distress and frequent
episodes of coughing. His chest examination was significant for grunting with
substernal, intercostal, and supraclavicular retractions. Rales were
appreciated on the right with good aeration throughout. No wheezes were heard.
The remainder of his physical examination was within normal limits.
IV. Diagnostic Studies
The complete blood count revealed 25,400 WBCs/mm3, with 51% lymphocytes, 17% atypical lymphocytes, 25% segmented neutrophils, and
6% monocytes. The hemoglobin was 12.3 gm/dL, and the platelet count was
494,000/mm
3.
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Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Diarrhea - Case 17-1: 2-Month-Old Boy:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 2-month-old male child presented with vomiting and diarrhea. He had been
discharged from the hospital 3 days earlier, with a diagnosis of
gastroesophageal reflux based on a pH probe and an upper gastrointestinal
radiographic series. He was discharged to home on ranitidine and metoclopramide
and had been doing well until the evening before presentation, when he
developed vomiting and diarrhea. He had 12 episodes of nonbloody, nonbilious
vomiting and 8 episodes of loose stools. There was no fever or associated upper
respiratory tract symptoms. He had normal urine output. His mother reported
that he was more fussy than usual, and she noted a lump in his groin on the day
of presentation to the hospital.
II. Past Medical History
The patient was a full-term baby with an uncomplicated pregnancy, labor, and
delivery history. He had been hospitalized only once, diagnosed with
gastroesophageal reflux, and prescribed ranitidine and metoclopramide.
III. Physical Examination
T, 36.9C; RR, 32/min; HR, 136 bpm; BP, 100/54 mm Hg
Weight, 5th percentile
On examination, the infant was alert and in no acute distress. His head, neck,
cardiac, and respiratory examinations were unremarkable. He was well hydrated
with a nontender and nondistended, soft abdomen. There was no
hepatosplenomegaly. There were no abdominal masses. He had normal male
genitalia, with bilaterally descended testicles. A tender, firm, and
erythematous mass measuring 5
× 3 cm was palpable in the right inguinal region.
IV. Diagnostic Studies
The complete blood count revealed 10,100 white blood cells (WBCs)/mm3, with 11% segmented neutrophils and 76% lymphocytes). The hemoglobin was 10.8
g/dL with a mean corpuscular volume of 87 fL, and the platelet count was
387,000 mm
3. Serum electrolytes, blood urea nitrogen (BUN), and creatinine values were
normal.
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Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Diarrhea - Case 17-4: 15-Month-Old Boy:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 15-month-old boy presented with a 3-month history of watery diarrhea
associated with weight loss. At 12 months of age, he developed diarrhea
characterized by six to eight watery brown stools per day accompanied by
significant flatulence. There was no associated emesis or blood in the stool.
He had continued to have a good appetite despite the frequent stooling. Dietary
changes, including a BRAT (bananas, rice, apples, toast) diet and a
lactose-free diet, had been introduced but did not improve the diarrhea.
Occasional low-grade fevers had been noted. There was no history of foreign
travel or ill contacts. There were two cats and one dog in the home. He had
lost 3 pounds in the last 3 months.
II. Past Medical History
He was a full-term infant with a birth weight of 6 lb, 11 oz who was fed Similac
without any problems. He had normal weight gain and developmental milestones.
He had been introduced to rice cereal, baby foods, and adult table foods
without any problems. He was taking no medications.
III. Physical Examination
T, 36.8°C; RR, 26/min; HR, 100 bpm; BP, 102/53 mm Hg
Weight, less than 5th percentile (50th percentile for a 6-month-old child);
height, 10th percentile
The initial examination revealed a quiet, gaunt-appearing child. His eyes were
sunken, but the rest of the head, eyes, ears, nose, mouth, and throat
examination was unremarkable. His cardiac and respiratory examinations were
normal. His abdominal examination revealed no masses. His liver edge was
palpable at the right costal margin. There was no clubbing of the fingers. He
had dry skin around his nose and lips. He had very little subcutaneous fat. His
neurologic examination was nonfocal.
IV. Diagnostic Studies
Laboratory analysis revealed 11,100 WBCs/mm3 with 29% segmented neutrophils, 66% lymphocytes, and 5% monocytes. The
hemoglobin was 12.2 g/dL, and there were 492,000 platelets/mm
3. Electrolytes were significant for a potassium concentration of 2.8 mmol/L and
a bicarbonate concentration 16 mmol/L. His ESR was 4 mm/hour. Urinalysis was
negative, with a urine specific gravity of 1.005. The serum alkaline
phosphatase level was low at 115 U/L, whereas ALT was elevated at 59 U/L, AST
at 64 U/L, and lactate dehydrogenase at 845 U/L.
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Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Fever - Case 11-1: 18-Month-Old Girl:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
An 18-month-old girl presented with a 1-day history of fever to 38.0°C and cough. While in the examination room, she had tonic flexion of her upper
extremities and eye deviation to the left. This episode lasted 10 minutes and
resolved spontaneously. Mild perioral cyanosis developed just before the end of
the seizure. Afterward, the child was tired and irritable. There was no history
of rash, eye pain, neck pain, or emesis. There were no alterations in gait or
balance. There was no antecedent witnessed trauma. The only pet was a recently
acquired goldfish. Several children at her daycare center had had symptoms of
upper respiratory tract infection. The remainder of the review of systems was
unremarkable.
II. Past Medical History
She was born at term after an uncomplicated pregnancy. She had not previously
required hospitalization. Her immunizations were up to date and included the
pneumococcal conjugate vaccine. She had received supplemental iron starting at
12 months of age for treatment of
“anemia.” The maternal grandmother had type 2 diabetes treated with glyburide, a
sulfonylurea oral hypoglycemic agent. There was no family history of febrile
seizures, but one relative supposedly had a seizure and drowned while swimming.
The family was not able to provide further details.
III. Physical Examination
T, 39.1°C; RR, 26/min; HR, 132 bpm; BP, 97/53 mm Hg; SpO2, 98% in room air
Weight, 25th percentile
The child was crying and seemed mildly disoriented. There were no bruises or
abrasions on her face or scalp. Her tympanic membranes were mildly erythematous
but mobile. There was copious purulent nasal discharge. The neck was difficult
to assess due to the child
's lack of cooperation. While yelling and screaming, she was able to arch her
back and neck without apparent limitation. There was no cervical
lymphadenopathy. The heart and lung sounds were normal. The abdomen was soft
without organomegaly. There were no focal neurologic deficits, but the child
appeared groggy and irritable and was slow to respond to her mother
's voice. Several hyperpigmented macules were noted on her skin as her clothes
were removed for the lumbar puncture (Fig. 11-1).
IV. Diagnostic Studies
A complete blood count revealed the following: 15,500 white blood cells
(WBCs)/mm
3 (61% segmented neutrophils, 22% lymphocytes, 15% monocytes, and 2%
eosinophils); hemoglobin, 12.1 g/dL; and 282,000 platelets/mm
3. Serum electrolytes, calcium, and glucose were normal. Urinalysis revealed no
WBCs or nitrites. Lumbar puncture revealed 2 WBCs and 19 red blood cells per
cubic millimeter. No bacteria were visualized on Gram staining. The
cerebrospinal fluid (CSF) protein and glucose concentrations were normal. Blood
and CSF cultures were subsequently negative.
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Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Fever - Case 11-4: 7-Month-Old Girl:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 7-month-old Japanese girl developed fever to 38.9°C associated with cough, rhinorrhea, and loose stools. Over the next few days,
the respiratory symptoms and diarrhea resolved, but her fever persisted. Six
days before admission, she was evaluated by her primary pediatrician and
diagnosed with cellulitis involving the labia majora. She was treated with
cephalexin, an oral first-generation cephalosporin. She presented to the
emergency department because of continued fevers and worsening cellulitis and
was admitted for intravenous antibiotic therapy and additional evaluation.
II. Past Medical History
Her birth history was remarkable for unconjugated hyperbilirubinemia. Her
bilirubin level peaked at 16 mg/dL and returned to normal without phototherapy.
Two months before admission, she developed otitis media that resolved after
treatment with a 10-day course of amoxicillin. Cephalexin was her only
medication at the time of admission. She had received all of the appropriate
immunizations, including three doses of the heptavalent pneumococcal conjugate
vaccine. The family history was remarkable for hepatitis A in the maternal
grandmother approximately 2 months earlier.
III. Physical Examination
T, 40.3°C; RR, 50/min; HR, 160 bpm; BP, 104/60 mm Hg; SpO2, 98% in room air
Weight, 75th percentile
Examination revealed an ill but not toxic-appearing infant. The anterior
fontanel was open and flat. Tympanic membranes were mildly erythematous but had
normal mobility bilaterally. There were no oropharyngeal lesions. Capillary
refill was brisk. The heart and lung sounds were normal. The spleen was
palpable just below the left costal margin. Examination of the genitalia
revealed significant erythema and induration of the left labia majora with mild
fluctuance. There was no crepitus. There were no other skin lesions.
IV. Diagnostic Studies
The WBC count was 3,100/mm3, with 2% segmented neutrophils, 28% monocytes, and 70% lymphocytes. The
absolute neutrophil count (ANC) was 62 cells/mm
3. Hemoglobin was 12.3 mg/dL, and platelets were 337,000/mm3. A repeat complete blood count produced similar results. Lactate dehydrogenase
and uric acid concentrations were normal. Urinanalysis did not reveal pyuria or
hematuria. Blood and urine cultures were obtained.
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Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Jaundice - Case 15-1: 14-Day-Old Boy:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 14-day-old, full-term male infant was transferred from a local community
hospital for further evaluation and management of sepsis and
hyperbilirubinemia. He had been discharged home from the well-baby nursery on
the fourth day of life with a bilirubin concentration of 16.7 mg/dL. Two days
later, his bilirubin level was 19.4 mg/dL and he was admitted for phototherapy.
Within 48 hours after admission, he developed emesis and temperature
instability. A blood culture and lumbar puncture were performed, and ampicillin
and gentamicin were started. Additional bilirubin measurements revealed the
direct fraction to be 5.2 mg/dL. An ultrasound study, performed to assess
hepatomegaly, revealed a nondilated biliary system, small gall bladder, and
diffuse hepatic enlargement. A nuclear medicine liver scan did not show bile
excretion after 4 hours, prompting initiation of phenobarbital therapy.
The baby continued to receive breast milk feedings (with nasogastric tube
supplementation required because of poor oral intake) until he experienced
blood-tinged emesis. Coagulation studies at that time revealed the prothrombin
time (PT) to be greater than 50 seconds and the partial thromboplastin time
(PTT) to be greater than 200 seconds; for this reason, vitamin K and a dose of
fresh-frozen plasma were given. By report, the baby
's abdomen was soft and his stool quantity and quality were unremarkable.
Transfer to a tertiary care center was arranged.
II. Past Medical History
The baby was born to a 27-year-old gravida 1 parity 0 mother with unremarkable
prenatal laboratory values. Delivery was via cesarean section at 37 weeks
because of breech presentation. The baby
's birth weight was 3.04 kg. He was discharged with his mother on the fourth day
of life and was breast-feeding every 3 hours.
III. Physical Examination
T, 36.4°C; RR, 48/min; HR, 140 bpm; BP, 83/50 mm Hg
Weight, 2.7 kg
Physical examination revealed a 2-week-old term boy who was listless but
arousable. His skin demonstrated a yellow-green jaundice but no petechiae,
rash, or bruising. He was nondysmorphic and normocephalic, with an open, flat
fontanel. His pupils were equal, round, and reactive with red reflexes present
bilaterally. Mucous membranes were yellow-pink and slightly dry. His
respirations were slightly rapid but otherwise unlabored with clear breath
sounds bilaterally. The heart examination was normal. The abdomen was soft and
nondistended, with a smooth, firm liver edge palpable 3 cm below the right
costal margin. Examinations of the genitalia and extremities were normal. His
tone, power, and primitive reflexes all appeared to be within normal limits.
IV. Diagnostic Studies
A complete blood count revealed the following: white blood cells (WBCs),
9,400/mm
3 (1% band forms, 41% segmented neutrophils, and 45% lymphocytes); hemoglobin,
16.0 g/dL; and platelets, 66,000/mm
3. PT and PTT were markedly prolonged at 50 and 112 seconds, respectively.
Fibrinogen was 127 mg/dL, and fibrin split products were negative. Serum
bicarbonate was 17 mEq/L, but the remainder of the serum electrolytes, calcium,
magnesium, and phosphorus were normal. Serum glucose was 52 mg/dL. A hepatic
function panel revealed the following: alanine aminotransferase (ALT), 115 U/L
aspartate aminotransferase (AST), 126 U/L; alkaline phosphatase, 730 U/L;
γ-glutamyl transferase (GGT), 55 U/L; and albumin, 3.5 mg/dL. The unconjugated
bilirubin concentration was 13.1 mg/dL, and the conjugated bilirubin was 5.9
mg/dL.
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Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Jaundice - Case 15-3: 2-Month-Old Boy:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 2-month-old male infant was admitted for further evaluation of his jaundice
and poor growth.
II. Past Medical History
The baby was born via spontaneous vaginal delivery after an uncomplicated,
full-term pregnancy and weighed 3.0 kg at birth. On the second day of life, he
was transferred to the special care nursery because of hypoglycemia requiring
intravenous dextrose. A sepsis evaluation was performed, and the baby received
7 days of ampicillin and gentamicin. On the third day of life, his total
bilirubin level was noted to be 18.6 mg/dL (with a direct bilirubin
concentration of 2.8 mg/dL), and he received phototherapy for 4 days. His
complete blood count, blood type and antibody screen, abdominal ultrasound, and
state newborn screen were all normal. The birth hospital reported that the baby
was taken home on the ninth day of life against medical advice; his prefeed
blood sugar measurement that day was 33 mg/dL.
The baby had been seen by his pediatrician three times for weight and bilirubin
checks; blood sugar measurements at those visits were described as
“borderline.” His feeding regimen was about 2.5 ounces every 3 hours of cow's milk formula. Because of poor growth and persistent hyperbilirubinemia, he was
referred to the hospital
's gastroenterology clinic and subsequently admitted for additional evaluation.
III. Physical Examination
T, 37.3°C; RR, 24/min; HR, 140 bpm; BP, 96/60 mm Hg
Weight, 3.6 kg (less than 3rd percentile); length, 52 cm (less than 3rd
percentile); head circumference, 38 cm (10th percentile)
Physical examination revealed a cachectic, somewhat icteric 2-month-old boy in
no apparent distress. There was scleral icterus and a 5
× 5 cm anterior fontanel; the oropharynx was clear, with moist mucous membranes.
His neck was supple without lymphadenopathy or masses. Breath sounds were clear
and unlabored. His pulse was regular, and there was no murmur. The abdomen was
soft, nontender, and nondistended; the liver edge was palpable just below the
right costal margin, and a small umbilical hernia was present. The testes were
palpable (but not fully descended) bilaterally; the penis appeared small, with
a stretched penile length of 2.0 cm. The baby appeared alert with grossly
normal tone and reflexes. The remainder of the examination was unremarkable.
IV. Diagnostic Studies
Serum electrolyte measurement revealed the following: sodium, 131 mEq/L;
potassium, 4.1 mEq/L; chloride, 100 mEq/L; bicarbonate, 22 mEq/L; BUN, 14
mg/dL; creatinine; 0.2 mg/dL; and glucose, 50 mg/dL. The complete blood count
revealed 8,000 WBCs/mm
3 with 5% band forms, 30% segmented neutrophils, and 52% lymphocytes. The
hemoglobin was 9.2 g/dL, and the reticulocyte count was 1.7%. The total
bilirubin measured 10.5 mg/dL; the direct and unconjugated bilirubin levels
were 1.5 and 9.0 mg/dL, respectively. Serum albumin was normal. ALT was 46 U/L,
AST was 87 U/L, and GGT was 125 U/L.
Abdominal ultrasound examination of the liver revealed normal size, slightly
increased echogenicity, and a small, nondistended gall bladder without biliary
dilatation. The spleen and kidneys were normal. A sweat test was attempted, but
an insufficient amount of sweat was obtained to properly interpret the test.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Jaundice - Case 15-4: 6-Week-Old Girl:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 6-week-old, full-term female infant was brought to the hospital by her mother
because of persistence of scleral icterus. The infant had been seen during the
first week of life after the mother noted she
“looked yellow.” At that time, she was otherwise doing well and the pediatrician diagnosed
physiologic jaundice. At 2 weeks of age, the baby began having blood-tinged
stools. She was changed first from cow
's milk to soy milk formula, and then to an elemental formula, after which the
bleeding resolved.
The baby had lately been acting well, taking her feedings without difficulty,
and making a normal number of wet diapers. There was no recent history of
emesis, excessive fussiness, bleeding, or bruisability. The mother did report
that the baby
's stools had become increasingly white and pasty.
II. Past Medical History
The child was born by an uncomplicated, repeat cesarean section at 38 weeks. Her
birth weight was 3.6 kg. Her hospital stay was unremarkable, and she was
discharged home with her mother on the third day of life.
The infant had a healthy 3-year-old brother. There was no family history of
jaundice, liver disease, anemia, or familial blood disorders.
III. Physical Examination
T, 37.0°C; RR, 32/min; HR, 136 bpm; BP, 88/60 mm Hg
Weight, 4.1 kg (10th to 25th percentile); length, 56 cm (25th to 50th
percentile)
On examination, the infant was resting quietly in her mother's arms and was observed to have a mild “muddy” jaundice in her face. She was nondysmorphic and normocephalic, with an open,
flat fontanel. Scleral icterus was pleasant. There was no nasal discharge or
flaring. The oropharynx was clear, with moist mucous membranes. The lung and
cardiac examinations were normal. Her abdomen was soft and nondistended, and a
smooth, firm liver edge palpable 2 cm below the right costal margin. The
genitourinary, extremity, and neurologic examinations were all normal.
IV. Diagnostic Studies
The complete blood count revealed the following: 6,900 WBCs/mm3 (43% segmented neutrophils and 48% lymphocytes); hemoglobin, 9.2 g/dL; and
332,000 platelets/mm
3. Total bilirubin was 9.5 mg/dL, and the direct bilirubin concentration was 8.4
mg/dL. ALT and AST were 267 and 288 U/L, respectively. Albumin was 3.2 g/dL,
and the alkaline phosphatase was 641 U/L. Serum electrolytes, BUN, creatinine,
and glucose were normal. Calcium was also normal. Urinanalysis revealed a
specific gravity of 1.015 and 1+ blood but no nitrites, leukocyte esterase,
protein, or urobilinogen.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Jaundice - Case 15-6: 5-Week-Old Girl:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 5-week-old girl was referred to the hospital for evaluation of her jaundice
and poor weight gain. Her father stated that she had been
“yellow her whole life,” starting before she left the newborn nursery. Except for some nasal congestion,
the baby seemed to be acting and sleeping normally. She had been feeding on cow
's milk formula, taking 2 to 3 ounces every 3 hours, and made five to six wet
diapers per day. The father described the baby
's stool output as two to four “loose” and “pasty” bowel movements per day. There was no history of fever, emesis, diarrhea,
travel, or unusual exposures.
II. Past Medical History
The baby weighed 3.25 kg at birth; she was the product of a full-term gestation,
delivered via cesarean section to a mother with a history of osteoporosis and
back pain. The mother took no medications and denied use of drugs or alcohol.
The baby was discharged home with her mother on the second day of life. She
lived at home with both parents. There was no family history of cystic
fibrosis, cardiac or gastrointestinal disease, or other pediatric illnesses.
III. Physical Examination
T, 37.2°C; RR, 28/min; HR, 120 bpm; BP, 80/56 mm Hg
Weight, 3.35 kg (5th percentile); length, 51 cm; head circumference, 36 cm
The infant appeared small but comfortable in her father's lap. She had an open, flat fontanel and a broad forehead; equal and round
pupils; and scleral icterus. The oropharynx was clear with moist mucous
membranes. Respirations were clear and unlabored. Cardiac examination revealed
a II/VI systolic murmur that was loudest at the left sternal border; the rate,
rhythm, and distal pulses were all normal. Her abdomen was soft and
nondistended, with a smooth liver edge palpable 3 cm below the right costal
margin; no spleen or other masses were appreciated. The genitourinary,
extremity, and neurologic examinations were all normal.
IV. Initial Diagnostic Studies
A complete blood count revealed the following: 16,700 WBCs/mm3 (31% segmented neutrophils and 61% lymphocytes); hemoglobin, 9.6 g/dL; and
625,000 platelets/mm
3. The BUN and creatinine concentrations were 26 and 1.1 mg/dL, respectively.
Serum electrolytes were normal. The total bilirubin concentration was 11.0
mg/dL; unconjugated and conjugated bilirubin were 8.0 and 3.1 mg/dL,
respectively. The remainder of the hepatic function panel was as follows: ALT,
190 U/L; AST, 94 U/L; albumin, 3.0 mg/dL; and alkaline phosphatase, 450 U/L.
Blood and urine cultures were obtained and were negative. Evaluations for
toxoplasmosis, rubella, cytomegalovirus, and HIV were also negative.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Pallor - Case 10-1: 3-Week-Old Boy:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 3-week-old twin B Caucasian male infant presented to an outpatient clinic for
evaluation of anemia. He was noted in the nursery to be pale and had a
hemoglobin of 12.3 g/dL and a mean corpuscular volume (MCV) of 120 fL. The
hemoglobin measurement repeated at 2 weeks of age was 8.1 g/dL with a
reticulocyte count of 1.2%. He had initial problems with weight gain that
improved after the mother started to pump breast milk and to feed the baby with
a bottle. He was described as usually sleepy, including falling asleep during
feeds. He had no vomiting, diarrhea, fever, or cough. He had normal
gold-colored bowel movements. There had been no change in urine color. There
was no rash.
II. Past Medical History
The infant was born at 38 weeks' gestational age after in vitro fertilization. The pregnancy was complicated by maternal anemia. The mother's blood type was O-positive. The mother did not receive any medications during
pregnancy except for prenatal vitamins. The infant was delivered vaginally. He
had a transverse lie and was delivered vertex after external manipulation. The
birth weight was 2,470 grams. His twin (twin A) weighed 2,900 g. On the first
day of life, the infant was noted to have a swollen right upper leg with
significant bruising. The initial radiograph was normal, but a subsequent film
showed evidence of a healing fracture that was presumably related to birth
trauma. There was no history of jaundice in the newborn nursery.
The family history was remarkable for the mother's anemia which did not require specific treatment. The maternal grandmother also
had a history of anemia. Both the maternal grandmother and an aunt had required
cholecystectomy for gallstones. The infant received a multivitamin with iron.
He did not have any known allergies. He received a diet of breast milk with
occasional cow
's milk supplementation.
III. Physical Examination
T, 36.7°C; RR, 46 to 66/min; HR, 166 to 230 bpm; BP, 70/37 mm Hg
Weight, 3.1 kg (25th percentile); height, 50 cm (50th percentile); head
circumference, 36 cm (approximately 75th percentile)
On examination, the infant awakened easily and cried. He was remarkably
pale-appearing. The anterior fontanel was open and flat. The conjunctivae were
pale. The sclerae were anicteric. Mucous membranes were moist. The clavicles
were intact. The infant was tachypneic, but the lungs were clear to
auscultation. On cardiac examination, normal first and second heart sounds (S1
and S2, respectively) were heard. A III/VI systolic murmur was best appreciated
at the left upper sternal border. There were no gallops or rubs. No murmurs
were heard along the back. The liver edge was just palpable, but the spleen was
not palpable. The area of known extremity fracture had minimal edema but no
tenderness. There was some widening of the right distal femur compared with the
left. The remainder of the examination was normal.
IV. Diagnostic Studies
Complete blood count revealed the following: 11,300 white blood cells (WBCs)/mm3 (1% metamyelocytes, 43% segmented neutrophils, 34% lymphocytes, and 19%
monocytes); hemoglobin, 3.9 g/dL; 430,000 platelets/mm
3; MCV, 117 fL; RBC distribution width (RDW), 17; and reticulocyte count, 0.3%.
The peripheral blood smear revealed a few small spherocytes but no
schistocytes, burr cells, or target cells.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Pallor - Case 10-2: 12-Month-Old Girl:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 12-month-old Caucasian girl presented to the emergency department with pallor.
The grandparents had just arrived from Florida. When they were greeted by the
child at the airport, they were alarmed at her appearance, prompting a visit to
the emergency department. The child had last been seen by her grandparents at
Thanksgiving, and at that time she appeared well. The parents conceded that the
child did appear more pale than usual. There was no fever, rash, vomiting, or
diarrhea. There was no jaundice. Her activity level had been normal. She had
not traveled anywhere, but the parents had visited Puerto Rico 2 weeks earlier;
their trip was uneventful.
II. Past Medical History
The birth history was unremarkable. She had a febrile illness at 6 months of
age. Evaluation at that time included a blood culture that was positive for
Staphylococcus epidermidis. This was believed to be a contaminant. A complete blood count was also obtained
(see later discussion). She had not required hospitalization. Her immunizations
were appropriate for age. There were no pets. Her development was normal. She
was breast-fed until 6 months of age, after which she began drinking whole
milk. She was a finicky eater but had been growing well.
III. Physical Examination
T, 36.1°C; RR, 38/min; HR, 145 bpm; BP, 97/53 mm Hg; SpO2, 99% in room air
Weight, 79th percentile; height, 50th percentile
She was pale but alert and playful. The conjunctivae were pale but without
injection or discharge. There was no lymphadenopathy. Her neck was supple. A
II/VI systolic murmur was heard at the left upper sternal border without
radiation. The lungs were clear to auscultation. There was no splenomegaly or
hepatomegaly. There were no rashes or petechiae.
VI. Diagnostic Studies
The complete blood count obtained when the child was 6 months of age revealed
the following: 15,200 WBCs/mm
3 (71% segmented neutrophils, 25% lymphocytes, and 4% monocytes); hemoglobin,
11.2 g/dL; and 365,000 platelets/mm
3. At that time, the MCV was 78 fL and the RDW was 17.3.
Her current studies revealed the following: 8,300 WBCs/mm3 (58% segmented neutrophils, 31% lymphocytes, and 11% monocytes); hemoglobin,
3.4 g/dL; and 410,000 platelets/mm
3. The MCV was 59 fL, and the RDW was 15.1. The reticulocyte count was 1.4%.
Stool was Hemoccult negative.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Pallor - Case 10-3: 5-Month-Old Boy:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 5-month-old African-American boy presented with pallor, difficulty breathing,
and lethargy. He had been in his usual state of good health until 4 days before
admission, when he developed a fever to 39 to 39.5
°C with rhinorrhea. There was no coughing, vomiting, or diarrhea. The patient
otherwise seemed well at the time. Over the next few days, he developed
increased work of breathing with decreased appetite. One day before admission,
the mother noted that he seemed lethargic and irritable. Oral intake was
significantly decreased; the infant was taking in only 8 ounces rather than his
typical 48 ounces over the day. The patient was brought to the emergency
department. In retrospect, the father noted that the child
's abdomen seemed to be increasing in size and firmness over the last month, with
some tenderness.
II. Past Medical History
The infant was born at term after an uncomplicated pregnancy. He was taken home
on the second day of life. He had no known allergies. He did not take any
medications. He had received the appropriate immunizations for age, including
two doses of the heptavalent pneumococcal conjugate vaccine. The family history
was notable for sickle cell disease in a paternal cousin and reactive airways
disease, cervical cancer, and ovarian cancer in several maternal relatives. A
great uncle died of
“jaundice” at 3 years of age and a cousin at 10 years of age.
III. Physical Examination
T, 38.4°C; RR, 58/min; HR, 160 bpm; BP, 83/38 mm Hg
Weight, 5.7 kg
In general, the child was lethargic and responsive only to painful stimuli. He
also had severe respiratory distress. The anterior fontanel was sunken. The
pupils were equal, round, and reactive to light. The conjunctivae and oral
mucosae were pale. The lips were dry and cracked. There were white patches on
the buccal mucosa that were easily removed with scraping. There was shotty
anterior and posterior cervical adenopathy. The lungs were clear to
auscultation, but the child had mild grunting and flaring. There was a II/VI
systolic ejection murmur at the left lower sternal border. The abdomen was
firm, with a liver edge palpable 5 cm below the right costal margin. The spleen
was palpable at the level of the umbilicus. Bowel sounds were present. The
extremities were cool with delayed capillary refill (5 seconds). On neurologic
examination, the child localized pain but had decreased tone and diminished
spontaneous activity.
In the emergency department, the patient had an oxygen saturation of 94% in room
air. He received several normal saline boluses as well as sodium bicarbonate
and intravenous dextrose. Blood and urine cultures were obtained. Intravenous
cefotaxime was given for presumed sepsis.
IV. Diagnostic Studies
The complete blood count revealed the following: 14,100 WBCs/mm3 (2% band forms; 52% segmented neutrophils, 42% lymphocytes, 2% eosinophils, and
2% atypical lymphocytes); hemoglobin, 2.6 g/dL; 184,000 platelets/mm
3; MCV, 88 fL; RDW, 17.4. The total bilirubin was 4.6 mg/dL with an unconjugated
level of 3.8 mg/dL. Hepatic transaminases, were normal but the lactate
dehydrogenase level was 2,984 IU/L (normal range, 934 to 2,150 IU/L). The chest
radiograph was normal. There was no cardiomegaly, infiltrates, or mediastinal
masses.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Rash - Case 9-2: 7-Week-Old Girl:
I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)
A 7-week-old Caucasian girl had initially presented to a hematologist for
evaluation of bruising. Her mother had noted several small purple bruises on
her right arm and a linear bruise across her left cheek at age 3 weeks. At 5
weeks of life, she had been noted to have linear and circular bruises along her
buttocks and legs. Laboratory evaluation at that time revealed a normal
complete blood count and differential, normal prothrombin time (PT) and partial
thromboplastin time (PTT), and normal platelet aggregation studies in response
to adenosine diphosphate (ADP), collagen, and ristocetin. Epinephrine-induced
platelet aggregation studies were mildly low but consistent with testing
variability. Factor XIII level was normal.
At 11 weeks of life, she was brought to the emergency department after having
had a possible seizure at home. Her father reported that she had an episode of
stiffening of her arms and body during her afternoon feeding. Her eyes had
rolled back in her head. After stiffening, her body became limp and she had
shallow breathing, but no cyanosis. The child had had decreased oral intake
during the day before the episode. There was no recent history of fever,
vomiting, diarrhea, or trauma. Immunizations, including
diphtheria-tetanus-pertussis (DTaP) vaccine, had been given 2 days before the
episode.
II. Past Medical History
The child was born at full term, of an uncomplicated pregnancy and delivery, and
weighed 3,500 g at birth. She was delivered vaginally without complication. She
had previously been evaluated for the bruising at her pediatrician
's office at 3 and 5 weeks of age, as noted. Child protective services had been
contacted by the pediatrician for the bruising, but the case was determined to
be unfounded and was closed. Family history was significant for an uncle with
frequent nosebleeds and a first cousin who was born with a
“platelet problem” that necessitated platelet transfusion at birth.
III. Physical Examination
T, 37.0°C; RR, 43/min; HR, 180 bpm; BP, 113/53 mm Hg
Height, 50th percentile; weight, 50th percentile
The physical examination was remarkable for a hemangioma of the left occiput, a
hematoma of the tip of the tongue, and two ecchymotic areas on the right
mandible, each about 1 cm in diameter. She had three 3- to 4-cm ecchymotic
areas on the left back. A caf
é-au-lait macule (1 cm) was seen on the left thigh. Lungs were clear. Cardiac
examination revealed tachycardia but no murmurs, rubs, or gallops. There was no
hepatosplenomegaly and no prominent adenopathy. Neurologically she was alert,
crying, and moving all extremities. Funduscopic examination revealed right
retinal hemorrhages. The rest of her examination was normal.
VI. Diagnostic Studies
Laboratory analysis revealed 18,800 WBCs/mm3, with 39% segmented neutrophils, 49% lymphocytes, and 11% monocytes. The
hemoglobin was 11.4 g/dL, and there were 406, 000 platelets/mm
3. PT and PTT were normal. Electrolytes, BUN, and creatinine were normal.
Alkaline phosphatase was 270 mU/mL. Other liver function studies were as
follows: alanine aminotransferase, 100 IU/L; aspartate aminotransferase, 220
IU/L; and
γ-glutamyltransferase, 46 IU/L. Examination of the cerebrospinal fluid revealed 8
WBCs/mm
3and 5,250 red blood cells/mm3. The glucose concentration was 60 mg/dL, and the protein concentration was 36
mg/dL. There were no organisms on Gram staining of the CSF.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
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