Publications by authors named "R O Wallerstein"
Article Synopsis
- A case study discusses a patient with surgical confirmation of Cushing's disease (CD) who had significantly high cortisol levels but did not display typical symptoms associated with the condition.
- The investigation ruled out other causes of elevated ACTH and cortisol, and revealed reduced activity of the enzyme 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), which plays a crucial role in regulating cortisol levels in cells.
- The findings suggest that impaired 11β-HSD1 may explain the absence of classic Cushing's features in patients with high cortisol, highlighting its importance in diagnosing such cases.
Lyme disease in pregnancy is understudied. The few available reports of Borrelia infection during pregnancy collecting clinical outcomes, with or without confirmed fetal infection both in utero and neonatal, are limited to case reports and small series. Population-based studies are not available.
View Article and Find Full Text PDFAcute Rhabdomyolysis in a Child with Multiple Suspicious Gene Variants.
Case Rep Pediatr
September 2022
Rhabdomyolysis is diagnosed with creatinine kinase (CK) elevation beyond 1000 U/L or ten times above the normal upper limit. Severe episodes can be fatal from electrolyte imbalance, acute renal failure, and disseminated intravascular coagulation. A 13-month-old child was admitted with a CK of 82,090 U/L in the setting of respiratory tract infection-related hyperthermia of 106.
View Article and Find Full Text PDFComplete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1.
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