PAINE #PANCE Pearl – Pediatrics



Question

You are consulted to see a 2-day old baby boy for failure to pass the first meconium stool and an episode of bilious emesis. He was 37-weeks gestation at the time of a normal spontaneous vaginal delivery without any complications. Physical examination reveals a distended abdomen and digital rectal exam results in an explosive expulsion of stool and gas. A contrast enema was ordered and is attached. What is the specific cause (not the diagnosis) of this infant’s condition and what is the next diagnostic step?

Ep-PAINE-nym



Tetralogy of Fallot

Other Known AliasesFallot’s tetrad, Fallot’s syndrome, Steno-Fallot tetralogy

DefinitionCongenital cyanotic heart disease due to ventriculo-septal defect, pulmonary stenosis, right ventricular hypertrophy, and overiding aorta.

Clinical SignificanceThis is one of the six congenital cyanotic heart defects and is also the most common.  Read/listen to an amazing review of “Congenital Cyanotic Heart Diseases” here.

HistoryNamed after Etienne-Louis Arthur Fallot (1850-1911), who was a French physician and received his medical doctorate from the University of Marseille in 1867. He described this tetrad in 1888 in an article entitled “Contribution à l’anatomie pathologique de la maladie bleue (cyanose cardiaque)” using previous observations from the work of Dutch anatomist Neils Stenson (1638-1686). Unfortunately, Fallot’s work garnered little contemporary acclaim and it wasn’t until Dr. Paul Dudley White (of WPW fame) translated and republished Fallot’s work in his landmark textbook “Heart Disease” in 1931.


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. Starr JP. Tetralogy of fallot: yesterday and today. World journal of surgery. 2010; 34(4):658-68. [pubmed]
  7. E. L. A. Fallot. Contribution à l’anatomie pathologique de la maladie bleue (cyanose cardiaque). Marseille médical, 1888;25: 77-93.

Ep-PAINE-nym



Klinefelter Syndrome

 

Other Known Aliases47XXY, Klinefelter-Reifenstein-Albright Syndrome

 

DefinitionGenetic condition resulting from two (or more) X chromosomes in a male patient.  It is the most common sex chromosome abnormality causing hypogonadism.

Human chromosomesXXY01.png

Clinical SignificanceThis condition affects 1 in 500-1000 newborn males in the United States.  Symptoms can range from subtle (sometimes not even noticed) to severe learning, developmental, and cognitive deficiencies.  The most prominent features are sterility, small testes, taller stature, less androgenic body hair, and gynecomastia.  Due to these developmental abnormalities, it is often not diagnosed until after puberty

Image result for klinefelter syndrome

History – Named after Harry Fitch Klinefelter, Jr. (1912-1990), an American rheumatologist and endocrinologist, who earned is medical doctorate from Johns Hopkins University.  He worked in the prestigious clinic of Dr. Fuller Albright at Massachusetts General Hospital where he studied a group of nine boys who all had similar features of gynecomastia, aspermatogenesis, and increased follicle-stimulating hormone.  He credits Dr. Albright with this discovery, as it was his clinic and he first noticed the pattern, but Albright wanted Klinefelter to do the research work on it as a new fellow attending.  The group (with Dr. Edward Reifenstein) published this cases series in 1942 and Dr. Albright insisted that Klinefelter take lead authorship.

 

Image result


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. Klinefelter Syndrome.  https://ghr.nlm.nih.gov/condition/klinefelter-syndrome
  7. Klinefelter HF, Reifenstein EC, Albright F. Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone.  JCEM.  1942;2(11):615-627 [article]
  8. Loriau DL.  Chapter 89: Harry F. Klinefelter (1912-1990).  A Biographical History of Endocrinology. 2016.  [article]

PAINE #PANCE Pearl – Pediatrics



Question

 

A 3yo girl has been diagnosed with acute bacterial otitis media in your clinic and requires amoxicillin for treatment.  The parents say she doesn’t take medicine every well and would appreciate the lowest VOLUME per dose.  She weighs 32 lbs.  What are the different dosing strategies using the current formulation of liquid amoxicillin?

 



Answer

 

Amoxicillin comes in 125mg/5mL, 200mg/5mL, 250mg/5mL, and 400mg/5mL and the recommended daily dose for bacterial acute otitis media is 90mg/kg/day twice daily for 7 days. She weighs 32lbs, which is 14.5kg, so she would need 1305mg per day, or 650mg per dose. For the different concentrations it could be:

  • For 125mg/5mL – 26mL per dose
  • For 200mg/5mL – 16mL per dose
  • For 250mg/5mL – 13mL per dose

 

If you want to have the LOWEST volume, then using the 400mg/5mL concentration would be 8.1mL per dose and you would need to dispense 115mL for a 7 day prescription.

 

Ep-PAINE-nym



Wilms Tumor

 

Other Known Aliasesnephroblastoma

 

DefinitionThe most common childhood primary renal tumor and can occur due to a mutation in the WT-1 cancer suppressor gene on 11p13.  There are five clinical stages depending on anatomical findings and tumor cell pathology.

 

Image result for wilms tumor

 

 

Clinical SignificanceCurrent estimates are around 500 new cases in the US per year and can be associated with several other genetic conditions including, WAGR syndrome, Denys-Drash syndrome, and Beckwith-Wideman syndrome.   Most children, who are later diagnosed with a Wilm’s tumor, present with an asymptomatic abdominal mass easily palpable by the provider.   Ultrasound is the initial screening test of choice, though MRI can be help in staging.  A renal biopsy will confirm the diagnose and definitively stage the disease in order to select the best treatment modalities.

 

 

History – Named after Carl Max Wilhem Wilms (1867-1918), a German pathologist and surgeon,  who earned his medical doctorate from the University of Bonn in 1890.  He was a prolific surgeon and medical educator rising to the ranks of chair of surgery at the University of Heidelberg in 1910.  He published his findings of the renal tumor that bears his name in 1899 in the article entitled “Die Mischgeschwülste der Niere”.  There is some controversy on who identified this tumor first as Thomas Rance may have written on it in 1814, but it was not very specific and could be attributed to other renal malignancies.   Felix Birch-Hirschfeld and colleagues also identified and wrote on what they believed to the first description of this tumor, but Wilms’ manuscript seemed to be more broadly noted in the literature and eventually came to bear his name.  

 

Image result for Die Mischgeschwülste der Niere

 

 


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Wilm’s Tumor.  National Cancer Institute. https://www.cancer.gov/types/kidney/hp/wilms-treatment-pdq#link/_1
  6. Up To Date. Accessed April 21, 2018.  www.uptodate.com
  7. Coppes-Zantingal AR.  Max Wilms and “Die mischgeschwülste der Niere”.  CMAJ.  199;160(8):1196. [pubmed]
  8. Coppes AR.  Dr. Carl Max Wilhelm Wilms.  HemOnc Today.  2008.  https://www.healio.com/hematology-oncology/pediatric-oncology/news/print/hemonc-today/%7B05646a17-7a0c-4a39-a0db-62fd83e0d628%7D/dr-carl-max-wilhelm-wilms-1867-1918

PAINE #PANCE Pearl – Pediatrics



Question

 

A 3yo girl has been diagnosed with acute bacterial otitis media in your clinic and requires amoxicillin for treatment.  The parents say she doesn’t take medicine every well and would appreciate the lowest VOLUME per dose.  She weighs 32 lbs.  What are the different dosing strategies using the current formulation of liquid amoxicillin?

 

Ep-PAINE-nym



Crigler-Najjar Syndrome

 

Other Known Aliasesfamilial/hereditary nonhemolytic unconjugated hyperbilirubinemia

 

DefinitionRare, familial condition resulting in congenital hyperbilirubinemia secondary to a deficiency of glucuronyl transferase.  There two types, with type I being very rare and severe (absolute absence) and type II being more common and less severe (relative deficiency)

Image result for bilirubin metabolism

 

Clinical Significance – Congenital hyperbilirubinemia can have catastrophic effects on the infant including jaundice, lethargy, failure to thrive, hypotonia, kernicterus, and acute bilirubin encephalopathy once it saturates and binds to the brain tissue.

 

History – Named after:

1) John Fielding Crigler (1919-), who is an American pediatrician who earned his medical doctorate at Duke University in 1943 and practiced at the Children’s Hospital of Boston.

2) Victor Assad Najjar (1914-), who is a Lebonese-born, American pediatrician who earned his medical doctorate at the American University in Beirut and practiced at Johns Hopkins, Vanderbilt, and Tufts University.

 

They published their findings of a new disease causing congenital familial nonhemolytic jaundice with kernicterus in 1952.

 


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Crigler-Najjar Syndrome.  Genetics Home Reference. https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome#synonyms
  6. CRIGLER JF, NAJJAR VA. Congenital familial nonhemolytic jaundice with kernicterus; a new clinical entity. A.M.A. American journal of diseases of children. 1952; 83(2):259-60. [pubmed]