Development of Language Skills

This is a pediatric board favorite, and for good cause. Language development is a better gauge of cognitive function than gross motor development. Mental retardation can be diagnosed earlier if language development is followed closely.

It is important to note that much of the first year of life is devoted to physical growth and the development of gross motor skills. Fine motor, language, and social skills are the focus after the first year of life.

Let's review the basic tenets of language development. And let's find a way to make them easier to committ to memory.

DDAVP and Hemophilia

I forgot when I did this, but I remember memorizing that DDAVP can be used as a treatment for hemophilia. In my current state of trying to understand what I've memorized, I've learned something new.

Desmopressine acetate (DDAVP) is known to increase the plasma concentration of factor VIII and von Willebrand factor. It has therefore been successfully used as a treatment for mild to moderate hemophilia A. DDAVP will only increase factor VIII about 2-6 times above baseline, and vWF about 2-4 times above baseline. Thus, it is usually possible to increase the factor VIII to hemostatic levels in moderate hemophilia A.

DDAVP has minimal effect on factor IX and so is not used as treatment for hemophilia B. Recent trials have shown that there may be enough of a factor IX increase to warrant DDAVP's use in patients with mild hemophilia B, but this has not been adopted yet.

So, in summary - DDAVP is effective for hemophilia A, not for hemophilia B.

Pediatric Nephrology Questions

1. A 3-year-old girl presents with mild periorbital and 1+ pretibial edema. Her blood pressure is 126/85, BUN 30mg/dl, Cr 1.2 mg/dl, and albumin 1.6 mg/dl. The most likely diagnosis is

• focal segmental glomerulosclerosis
• acute postinfectious glomerulonephritis
• lupus nephritis
• minimal change disease
• cirrhosis

Don't Compliment Someone with PMS

Here's a good way to remember the most common conditions that lead to hypocomplimentemia

Poststreptococcal glomerulonephritis
Membranoproliferative glomerulonephritis
Systemic lupus erythematosus

Hyperpigmentation in acanthosis nigricans versus that in Addison's disease

I was looking at this picture and recognized the hyperpigmentation of acanthosis nigricans, which is commonly associated with type II diabetes millitus. However, I remembered that hyperpigmentation can also be cause by Addison's disease. Should I, based on this picture alone, be able distinguish the two?

The answer is yes ... (maybe)

Approach to the Infant with Ambiguous Genitalia

We all have subjects that are difficult to learn. And since difficulty sometimes breeds resentment, some of us tend to spend a little less time reading subjects we don't like. This propagates the difficulty.

For me, the whole issue of ambiguous genitalia was difficult to understand. Until now ...

McCune-Albright Syndrome

I've always tried to memorize the features of this board-favorite syndrome, but it's hard to memorize features that don't (at first glance) appear to "fit together". Until now ...

Pathophysiology of Vesicoureteral Reflux

Vesicoureteral reflux is the abnormal backflow of urine from the bladder to the ureter and/or kidney. When the affected individual voids, the urinary bladder contracts. The urine is supposed to leave through the urethra, but if the vesicoureteral junction is abnormal some urine will be forced back up into the ureter. How bad is the junction? How much urine goes up rather than down? These are the questions that determine the grading of reflux, established by the International Reflux Grading system.

Pathophysiology of Polycystic Kidney Disease

In my continuing quest to understand the actual "why" and "how" behind all pediatric conditions, today I will be working on one of the cystic dysplasias of the kidney - autosomal recessive polycystic kidney disease (ARPKD). This condition results from a mutation in the PKHD1 gene at chromosomal locus 6p12.2. This gene's product, fibrocystin, is found in kidney, liver, and pancreas (this helps you remember the organs involved in ARPKD)

As a reminder, autosomal dominant polycystic kidney disease (ADPKD) is the ADULT type (see what I did there?)

Pediatric Infectious Disease Questions

A 1-year-old boy presents with recurrent otitis media, pneumonitis, and sinusitis. The physical examination reveales bilateral otitis media, but no cervical lymph nodes are palpable and the tonsils are not visible. This picture is most compatible with a picture of:
a. Selective IgA deficiency
b. Chronic granulomatous disease
c. DiGeorge syndrome
d. X-linked agammaglobulinemia
e. C2 complement definciency


The triad of eczema, thrombocytopenia, and recurrent infections is characteristic of:
a. Chediak-Higashi syndrome
b. Wiskott-Aldrich syndrome
c. Common variable hypogammaglobulinemia
d. Hyper-IgE syndrome
e. Adenosine deaminase deficiency

A 2-year-old boy presents with a history of protracted lymphadenitis, cavitary pneumonitis, and organomegaly. The single best test to diagnose his immunodeficiency is:
a. CH50
b. Quantitative immunoglobulin measurement
c. Isohemagglutinin titers
d. Delayed hypersensitivity skin testing
e. Nitroblue tetrazolium dye reduction test

Infusions of interferon-gamma are especially helpful for patients with:
a. Hyper-IgM syndrome
b. Ataxia-telangiectasia
c. Chronic granulomatous disease
d. Severe combined immunodeficiency
e. Leukocyte adherence deficiency

The best screening test for immunodeficiency in a patient after her second episode of meningococcal meningitis is:
a. Quantitative immunoglobulin measurement
b. CH50
c. Determination of T-cell subsets
d. Determination of IgG subclasses
e. Nitroblue tetrazolium dye reduction test

Your patient requires a blood transfusion. In which condition must the blood be irradiated?
a. Chronic granulomatous disease
b. DiGeorge syndrome
c. X-linked agammaglobulinemia
d. Selective IgA deficiency
e. C3 deficiency