Publications by authors named "C B Marbach"
Objectives: Patients with inherited metabolic disorders (IMDs) may require emergency hospital care to prevent life-threatening situations such as metabolic decompensation. To date, over one thousand different rare IMDs have been identified, which means that healthcare professionals (HCPs) initiating emergency treatment may not be familiar with these conditions. The objective of this initiative was to provide HCPs with practical guidance for the acute management of children and adults with IMDs who need emergency care, regardless of the underlying reason.
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- Water-soluble vitamins are crucial for the nervous system, and their deficiencies can lead to serious, irreversible complications if left untreated; this study aimed to highlight the clinical and laboratory findings related to these deficiencies for better early diagnosis and treatment.* -
- Between 1998 and 2023, data from patients with neurological symptoms attributed to vitamin deficiencies were analyzed, revealing specific clinical presentations and neuroimaging results for various vitamin deficiencies, such as B1, B2, B12, and C.* -
- The study concluded that acquired vitamin deficiencies can produce symptoms that resemble inherited metabolic disorders and emphasized the need for prompt diagnosis and treatment to prevent long-term consequences.*
Article Synopsis
- The study evaluated a transition program for adolescents with a rare liver disease, focusing on outcomes over nearly three decades (1994-2022).
- A total of 238 adolescents participated, with a follow-up loss rate of 15.4%, and key findings included a 3.2% mortality rate and high post-transplant survival rates.
- The conclusion emphasizes the need for personalized transition programs that foster collaboration between pediatric and adult health care teams to improve patient care.
Porto-Sinusoidal Vascular Disease: A Pediatric Study of 30 Patients.
J Pediatr Gastroenterol Nutr
June 2022
Objectives: Porto-sinusoidal vascular disease (PSVD) refers to a broad spectrum of histological lesions and phenotypic expressions. There are only a few reported pediatric cases in the literature. The primary outcomes of this study were to describe the phenotype of children with PSVD, to specify their mode of presentation and their clinical, biological, histological, and radiological characteristics as well as to identify their underlying etiologies.
View Article and Find Full Text PDFA 5-year-old Australian stock horse in Monto, Queensland, Australia, developed neurological signs and was euthanized after a 6-day course of illness. Histological examination of the brain and spinal cord revealed moderate to severe subacute, nonsuppurative encephalomyelitis. Sections of spinal cord stained positively in immunohistochemistry with a flavivirus-specific monoclonal antibody.
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