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A Case Report of Recurrent Primary Pituitary Abscess: Challenges in Diagnosis and Treatment.
Endocr Metab Immune Disord Drug Targets
January 2025
Department of Neurosurgery, Istanbul University-Cerrahpaşa, Istanbul, Turkey.
Background: Primary pituitary abscess is a rare disease with no specific symptoms for pituitary abscess alone. A preoperative diagnosis is quite challenging due to unclear imaging findings.
Case Presentation: We report the case of a patient with a pituitary lesion who presented with hypopituitarism, diabetes insipidus, and visual field defect and was misdiagnosed as a possible cystic pituitary adenoma.
Autoimmune Tubulopathies.
J Am Soc Nephrol
January 2025
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université Paris Cité, F-75006 Paris, France.
The renal tubule and collecting duct express a large number of proteins, all having putative immunoreactive motives. Therefore, all can be the target of pathogenic autoantibodies. However, autoimmune tubulopathies seem to be rare and we hypothesize that they are underdiagnosed.
View Article and Find Full Text PDFIdentification of a novel missense variant in the gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, Ogaki Municipal Hospital, Ogaki, Japan.
Familial neurohypophyseal diabetes insipidus is a rare genetic disease caused by gene variants and is characterized by progressive polyuria and polydipsia in early childhood. Herein, we have reported the clinical symptoms and genetic test results of a Japanese patient with a family history of polyuria and polydipsia for over five generations. The proband was a 6-yr-old boy who was referred for the evaluation of polyuria and polydipsia.
View Article and Find Full Text PDFPatients with a Wide Range of Disorders Related to Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.
Genes (Basel)
December 2024
Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213 Lodz, Poland.
-spectrum disorders are caused by a mutation in the gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. The aim of this study was to evaluate genotype-phenotype correlations in Polish patients with -spectrum disorders.
View Article and Find Full Text PDFRadiation therapy for childhood-onset craniopharyngioma: systematic review and meta-analysis.
J Neurooncol
January 2025
Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, 100045, China.
Background: Craniopharyngioma (CP), a benign tumor originating from remnants of Rathke's pouch in the sellar region, accounts for approximately 30% of all cases of craniopharyngioma. Radiation therapy has been used to treat CP patients for decades; however, there is still a lack of systematic reviews on the long-term tumor control outcomes in pediatric CP patients treated with external radiation therapy.
Methods: We conducted a comprehensive search of multiple databases for studies on the tumor progression rates of childhood-onset CP(COCP) patients who received external radiotherapy.
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