Clinical and Histologic Liver Improvement in Siblings With Lysosomal Acid Lipase Deficiency After Enzyme Replacement.

OBJECTIVES: To assess the effect of long-term (104 weeks) treatment with recombinant sebelipase alpha (rhSA) on serum lipid and hepatic transaminase levels, and liver histopathology in 4 siblings diagnosed with lysosomal acid lipase deficiency (LAL-D). METHODS: Four male siblings from the same nonconsanguineous parents were diagnosed with the late-onset phenotype of LAL-D in 2015. Liver specimens were obtained by biopsy at baseline and after 104 weeks of enzyme replacement with rhSA (1 mg/kg, IV, every 2 weeks). Hepatic transaminase, lipid and lipoprotein levels were assessed at baseline and sequentially every 16 weeks for 104 weeks. Hepatic steatosis was evaluated from hematoxylin and eosin-stained specimens, and fibrosis was evaluated (Metavir-scoring system) from trichrome-stained specimens obtained at baseline and following 104 weeks of treatment with rhSA. RESULTS: All 4 siblings had improvement in their serum lipid and hepatic transaminase levels after treatment with rhSA. Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels decreased from baseline by an average of 47% and 56%, respectively. The fasting triglyceride and low-density lipoprotein cholesterol (LDL-C) levels decreased from baseline by an average of 43% and 60%, respectively. Hepatic steatosis decreased from baseline grade 3 to posttreatment grade 1. Hepatic fibrosis did not advance following 104 weeks of treatment with rhSA and regressed in 1 sibling. CONCLUSIONS: Treatment with rhSA for 104 weeks in 4 siblings with LAL-D demonstrated improvement in their hepatic transaminase and serum lipid levels, accompanied by reduction of hepatic steatosis and no progression of fibrosis.

Sexual Activity the Night Before Exercise Does Not Affect Various Measures of Physical Exercise Performance.

INTRODUCTION: The idea that sexual activity can affect athletic performance has been a matter of conjecture for the past several decades. AIM: To provide preliminary data on whether sexual activity the evening before several physical exercise performance tests affects performance the next day. METHODS: Eight participants (mean age, 28 ± 5 years) underwent several physical exercise performance tests on 3 different mornings, under 3 conditions: (i) no sexual intercourse the night before the tests (control), (ii) sexual intercourse the night before the tests, and (iii) yoga the night before the tests (randomized, single-blinded). MAIN OUTCOME MEASURES: Physical work capacity, lower body muscular power (standing vertical jump), upper body strength (handgrip strength), reaction time, and upper body musculoskeletal endurance (number of push-ups completed). RESULTS: All participants experienced orgasm through intercourse. The more pleasurable the orgasm, the lower the systolic blood pressure (SBP) on the day after intercourse (Spearman's rho = -0.86; P = .007). For every 2% increase in the total orgasm score, SBP decreased by 1 mmHg. Intercourse lasted 13 minutes; mean heart rate (HR) and caloric expenditure ranged from 88 to 145 beats/minute and from 53 to 190 kcal, respectively. There were no significant differences in the physical working capacity that elicited an HR of 170 beats/minute, number of push-ups completed, vertical jump height, grip strength, or reaction time across the 3 conditions. CONCLUSION: Orgasm through sexual activity on the night before physical exercise may reduce SBP; however, we were unable to demonstrate a statistically significant difference in physical exercise performance in any of the 3 conditions. Zavorsky GS, Vouyoukas E, Pfaus JG. Sexual Activity the Night Before Exercise Does Not Affect Various Measures of Physical Exercise Performance. Sex Med 2019;7:235-240.

Thymic teratoma presenting as non-immune hydrops fetalis.

Teratomas are one of the most frequent tumors in the pediatric population. They occur anywhere along the midline of the body, following the course of the embryonic germ cell ridge. In the mediastinal location, they exert space occupying effects, leading to a myriad of complications, including non-immune hydrops fetalis. We describe a fatal case of an immature thymic teratoma in a neonate presenting with hydrops fetalis. This case emphasizes the importance of early diagnosis and surgical intervention in such cases.

Thymic teratoma presenting as non-immune hydrops fetalis

Teratomas are one of the most frequent tumors in the pediatric population. They occur anywhere along the midline of the body, following the course of the embryonic germ cell ridge. In the mediastinal location, they exert space occupying effects, leading to a myriad of complications, including non-immune hydrops fetalis. We describe a fatal case of an immature thymic teratoma in a neonate presenting with hydrops fetalis. This case emphasizes the importance of early diagnosis and surgical intervention in such cases.