Results 101 to 110 of about 9,639 (200)
ABSTRACT Background Gastrointestinal graft‐versus‐host disease (GI GVHD) following hematopoietic stem cell transplant is typically managed with medical therapy, but surgery and angioembolization may be warranted in selected cases with life‐threatening complications.
Gaia Brunetti +12 more
wiley +1 more source
The Challenge of Determining the Etiology of Encephalopathy in an Elderly Patient
ABSTRACT Encephalopathy is a heterogeneous clinical syndrome with numerous neurological and systemic etiologies. We report the case of a 67‐year‐old man, a chronic ethanol consumer, admitted with a one‐week history of confusional syndrome. Initial laboratory tests revealed severe hypercalcemia, acute kidney injury, mild anemia, and hyperproteinemia ...
Vlad Alexandru Ionescu +9 more
wiley +1 more source
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri +26 more
wiley +1 more source
Immune Dysregulation in Branched Chain Organic Acidemias
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi +3 more
wiley +1 more source
Reena Shah, Agnieszka Kubisz-Pudelko, Jeremy Reid Yeovil District Hospital, Yeovil, UK Abstract: Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological syndrome characterized by various symptoms of neurological disease.
Shah R, Kubisz-Pudelko A, Reid J
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Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
ABSTRACT Propionic acidemia (PA) is a rare inherited metabolic disorder associated with recurrent metabolic decompensations and chronic multisystemic complications. Liver transplantation (LT) may improve metabolic stability, but its long‐term impact on organ involvement remains debated.
Tristan Mekdade +25 more
wiley +1 more source
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab +5 more
wiley +1 more source
Epilepsy: Epidemiology, Molecular Pathogenesis, and Clinical Management
Epilepsy is a heterogeneous and chronically evolving brain network disorder. This review integrates epidemiological burden, psychiatric comorbidities, and cyclic seizure patterns with multiscale pathogenic mechanisms, including ion‐channel dysfunction, synaptic transmission defects, neuroinflammation, metabolic and mitochondrial dysfunction, and ...
Jian Liu +8 more
wiley +1 more source
Cerebral autoregulation in normal pregnancy, preeclampsia, and 1‐year postpartum
Abstract Introduction Cerebral complications of preeclampsia pose a significant threat to pregnant women worldwide. The underlying pathophysiology is unclear, but impaired cerebral autoregulation may contribute to adverse maternal outcomes. Long‐term consequences of preeclampsia include cerebrovascular disease, and impairment of cerebral autoregulation
Niclas Carlberg +8 more
wiley +1 more source

