Publications by authors named "Martin Jankofsky"
Article Synopsis
- - Pediatric acute liver failure (PALF) is a serious condition with up to 50% of cases remaining unexplained, hindering effective treatment options like liver transplantation.
- - In a study involving 260 children from 19 countries, whole-exome sequencing (WES) identified genetic causes in 37% of indeterminate PALF cases, with a particularly high diagnostic rate in infants and those with recurrent liver failure.
- - The research uncovered 36 distinct genes associated with PALF, highlighting mitochondrial diseases as the most common cause and underscoring the need for advanced genetic testing in diagnosing and treating this condition.
Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy.
Turk J Pediatr
December 2017
Aydin M, Ganschow R, Jankofsky M. Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy. Turk J Pediatr 2017; 59: 93-96.
View Article and Find Full Text PDFDuring the last 5 decades, liver transplantation has witnessed rapid development in terms of both technical and pharmacologic advances. Since their discovery, calcineurin inhibitors (CNIs) have remained the standard of care for immunosuppression therapy in liver transplantation, improving both patient and graft survival. However, adverse events, particularly posttransplant nephrotoxicity, associated with long-term CNI use have necessitated the development of alternate treatment approaches.
View Article and Find Full Text PDFObjectives: To describe characteristics of visceral leishmaniasis-associated hemophagocytic lymphohistiocytosis (HLH) with focus on diagnostic clues and pitfalls, including the frequency of central nervous system (CNS) involvement, and to determine the efficacy of liposomal amphotericin B (L-AmB).
Study Design: We retrospectively analyzed clinical and laboratory features, diagnostic procedures, and treatment of 13 patients with HLH with imported visceral leishmaniasis, reported to the German HLH reference center (1999-2012).
Results: The spectrum of presentations was indistinguishable from patients with hereditary HLH or with acquired HLH because of infections with other pathogens.
Influences on human internal exposure to environmental platinum.
J Expo Anal Environ Epidemiol
January 2003
Different influences on internal exposure to platinum are investigated and for the first time weighted in environmentally exposed subjects as far as individual internal platinum concentrations are concerned. Detailed medical and environmental histories as well as oral cavity status were assessed in 84 dermatological patients, and internal platinum exposure was determined by analyzing platinum in urine using adsorptive voltammetry (AV). Platinum concentrations ranged from <0.
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