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| http://dx.doi.org/10.5489/cuaj.6894 | DOI Listing |
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Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Antalya Training and Research Hospital, University of Health Sciences, Antalya, Türkiye.
Objectives: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor () gene, leading to significant hypercalcemia and related complications.
Case Presentation: We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous mutation (c.242T>A; p.
Prepancreatic postduodenal portal vein discovered in a pediatric patient undergoing total pancreatectomy with islet autotransplantation: a case report and review of literature.
Front Surg
January 2025
Department of Abdominal Transplant and Hepatopancreatobiliary Surgery, Nationwide Children's Hospital, Columbus, OH, United States.
Background: Prepancreatic postduodenal portal vein (PPPV) is a rare anatomic variant where the portal vein (PV) runs anterior to the pancreas and posterior to the duodenum. Only 20 cases of PPPV, all in adults, have been reported in literature. We report the first case of PPPV in a pediatric patient discovered intraoperatively during total pancreatectomy with islet autotransplantation (TPIAT) and the third known case in which the PPPV could be isolated intraoperatively.
View Article and Find Full Text PDFClinical Insights on My Acute Ischemic Stroke Caused by a Carotid Web.
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Department of Pediatrics, Japanese Red Cross Wakayama Medical Center, Wakayama, JPN.
Acute ischemic stroke, a medical emergency caused by reduced cerebral blood flow, results in brain cell damage. While commonly associated with older individuals, strokes can also occur in young and middle-aged adults, posing significant socio-economic and health challenges due to the long-term impact of the condition. This poses significant socio-economic and health challenges because stroke is a leading cause of disability and mortality.
View Article and Find Full Text PDFCase report: Treatable immune-mediated severe orthostatic hypotension in SARS-CoV-2 infection.
Front Neurosci
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Service of Neurology, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
We report a patient with autonomic dysfunction following acute SARS-CoV-2 infection, presenting progressively worsening severe orthostatic hypotension to the point where she could no longer sit or stand. The patient experienced a delay in diagnosis after an initial misdiagnosis of a functional neurological disorder. Persistent orthostatic symptoms prompted us to re-examine the diagnosis and explore other diagnostic tools, which ultimately allowed us to identify and treat severe immune-mediated orthostatic hypotension (OH).
View Article and Find Full Text PDFCutaneous absorption of methylene chloride is rarely toxic. This case shows that it can lead to carboxyhemoglobinemia. Exposure to methylene chloride should warrant a carboxyhemoglobin check and oxygen support.
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