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]

PAINE #PANCE Pearl – Pediatrics



 

Question

 

Image result for omphaloceleImage result for gastroschisis

 

  1. What are these two conditions called?
  2. Which is associated with other genetic conditions?
  3. Which has better associated outcomes?

 



Answer

 

  1. The condition on the left is an omphalocele and on the right is a gastroschisis.
    1. Omphalocele is a midline abdominal wall defect where the contents are covered by a membrane of amnion and peritoneum.  It occurs at the base of umbilical cord.
    2. Gastroschisis (more common) is a full-thickness, paraumbilical abdominal wall defect with free-evisceration of abdominal contents
  2. The majority of infants with an omphalocele have associated congenital anomalies including Beckwith-Wiedemann syndrome, Trisomy 13 and 18, and numerous other subsystem involvement.  Gastroschisis generally has no other abnormalities, but can have associated intestinal atresia in up to 10%
  3. Gastroschisis has statistically better overall outcomes since it is not associated with any other genetic conditions.

Image result for omphalocele vs gastroschisis


References

  1. Carlo WA.  The Umbilicus. In: Nelson Textbook of Pediatrics. 20th ed.  2016. Chapter 105: 890-891.
  2. Abdominal Wall Defect.  Genetics Home Reference.  https://ghr.nlm.nih.gov/condition/abdominal-wall-defect

Ep-PAINE-nym



Kayser-Fleischer Rings

 

Other Known Aliasesnone

 

Definition1-3mm, grey/green/brown pigmented ring in the Descemet membrane of the cornea.  It first appears at the 12 o’clock position in early disease, then a second crescent forms at 6 o’clock, and then finally completely encircling the cornea.

 

Kayser-Fleischer ring.jpg

 

Clinical Significance – This is pathognomonic for Wilson’s disease, but does not cause any symptoms with the patient.  They are often identified on good ophthalmic examinations.

 

History – Named after Bernhard Kayser (1869-1954) and Bruno Fleischer (1874-1965), who were both German ophthalmologists and contemporaries of each other.  Dr. Kayser received his medical doctorate at the University of Berlin in 1893 and practiced as a specialized ophthalmologist in Stuttgart, Germany for the majority of his career.  Dr. Fleischer received his medical doctorate at the University of Tübingen in 1898 and practiced there earning a reputation as an extraordinary professor.  Each published their findings in Klinische Monatsblätter für Augenheilkunde within a year of each other (1902 and 1903), but erroneously posited that it was due to silver accumulation.  The first published report of copper being the causative agent was in 1934 by Dr. Werner Gerlach and Willhelm Rohrschneider.

 

 


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. Schrag A, Schott JM. Images in clinical medicine. Kayser-Fleischer rings in Wilson’s disease. NEJM. 2012; 366(12):e18. [pubmed]
  6. Dusek P, Litwin T, Czlonkowska A. Wilson disease and other neurodegenerations with metal accumulations. Neurologic clinics. 2015; 33(1):175-204. [pubmed]
  7. Kayser B. “Über einen Fall von angeborener grünlicher Verfärbung des Cornea”. Klin Monatsbl Augenheilk. 1902;40(2):22–25.
  8. Fleischer B. “Zwei weitere Fälle von grünlicher Verfärbung der Kornea”. Klin Monatsbl Augenheilk. 1903;41(1):489–491
  9. Gerlach W, Rohrschneider W. “Besteht das Pigment des Kayser-Fleischerschen Hornhautringes aus Silber?”. Klin Wochenschr. 1934;13: 48–49