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Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency.
Front Pediatr
January 2025
Department of Gastroenterology, Kunming Children's Hospital, Kunming, China.
Background: The diagnostic criteria of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) have not been established due to non-specific clinical manifestations, and our understanding on the treatment outcome is still limited. We aim to investigate the biochemical characteristics, genetic variants, and treatment outcome of NICCD patients.
Methods: We compared the nutritional status and biochemical characteristics of 55 NICCD infants and 27 idiopathic neonatal cholestasis (INC) infants.
Primary Diffuse Leptomeningeal Melanomatosis Leading to Raised Intracranial Pressure in a Pediatric Patient.
Clin Case Rep
February 2025
Department of Pediatrics, Division of Pediatric Neurology Children's Medical Center, Pediatrics Center of Excellent, Tehran University of Medical Sciences Tehran Iran.
A critical clinical consideration, in addition to other common risk factors predisposing individuals to idiopathic intracranial hypertension (IIH), involves the potential co-occurrence of increased intracranial pressure and elevated cerebrospinal fluid protein levels in the presence of underlying malignancies. Primary diffuse leptomeningeal melanomatosis, an exceptionally rare condition with few reported cases in the pediatric population, illustrates this scenario. Timely decision-making based on clinical suspicion to perform a biopsy and involving a skilled pathologist for accurate reporting are essential steps toward achieving a definitive diagnosis.
View Article and Find Full Text PDFPulmonary Arterial Hypertension Associated With Idiopathic Hypereosinophilic Syndrome: Importance of Eosinophilia Control With Steroid Therapy.
CJC Open
January 2025
Department of Cardiovascular Medicine, Kyorin University, Tokyo, Japan.
Severe Edematous Facial Myositis Following Dual Influenza and COVID-19 Vaccination: A Case Report.
Cureus
December 2024
Rheumatology, University of British Columbia, Faculty of Medicine, Vancouver, CAN.
Idiopathic inflammatory myopathies (IIM), or myositis, are a heterogeneous group of autoimmune disorders that can affect multiple organs, including the muscles, skin, joints, lungs, heart, and gastrointestinal tract. While new-onset myositis has been reported following SARS-CoV-2 infection, cases associated with COVID-19 vaccination remain rare. We describe a unique case of severe progressive edematous facial myositis resembling angioedema in a 22-year-old man, with onset one to two weeks after receiving dual SARS-CoV-2 and influenza vaccinations.
View Article and Find Full Text PDFThe Perils of Pregnancy: A Case Report of Subglottic Stenosis.
Cureus
December 2024
Emergency Department, Bayhealth Hospital, Dover, USA.
Subglottic stenosis (SGS) presents a rare, yet challenging condition characterized by airway obstruction below the glottis, with diverse etiologies ranging from congenital to acquired factors like intubation or autoimmune diseases. Diagnosis and management of SGS during pregnancy are particularly complex due to limited literature and diagnostic consensus. This article presents a case of a 26-year-old pregnant woman presenting with escalating dyspnea and stridor attributed to SGS, most likely secondary to idiopathic etiology.
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