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Diagnostic value of Tc-99m-MIBI SPECT/CT in parathyroid carcinoma with lung metastasis: a case report and literature review.
Front Oncol
December 2024
Department of Nuclear Medicine, The Second Affiliated Hospital of Soochow University, Suzhou, China.
Purpose: Parathyroid carcinoma (PC) is an extremely rare disease, typically presenting with marked elevations of serum calcium concentrations and associated with significantly increased parathyroid hormone (PTH) levels. Although it progresses slowly, approximately25% of PC patients have lung metastases. In the present study, we aimed to evaluate the role of technetium-99m methoxy isobutyl isonitrile (Tc-99m-MIBI; sestamibi) SPECT/CT scintigraphy in the preoperative localization of parathyroid adenomas, incidental metastases findings of PC, and ectopic parathyroid tissue.
View Article and Find Full Text PDFMortality rate and standardized mortality ratio of childhood-onset type 1 diabetes according to incidentally detected non-acute-onset or acute-onset subtype, sex, and onset age: A cohort study.
Clin Pediatr Endocrinol
January 2025
Bibai City Hospital, Hokkaido, Japan.
Sensitivity to Graphotactic Regularities in Elementary School: Development and Contributing Variables.
Lang Speech Hear Serv Sch
January 2025
Faculté de Psychologie et des Sciences de l'Education, Université de Genève, Suisse.
Purpose: Graphotactic regularities are statistical regularities governing orthographic systems that children are sensitive to from the start of their literacy learning. The current study observed changes in children's sensitivity to a set of graphotactic patterns across different grades in elementary school and measured the contribution of skills such as expressive spelling, reading fluency, nonverbal reasoning, and receptive vocabulary to children's sensitivity of these graphotactic regularities.
Method: One thousand one hundred one French-speaking children in Grades 1-5 completed a writing under a dictation task, a text reading fluency task, and a pseudo-orthographic choice task involving different graphotactic regularities.
A Novel Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.
Genes (Basel)
November 2024
Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy.
Background/objectives: Axonal Charcot-Marie-Tooth disease type 2 (CMT2) accounts for 24% of Hereditary Motor/Sensory Peripheral Neuropathies. CMT2 type GG, due to four distinct heterozygous mutations in the Golgi brefeldin A resistant guanine nucleotide exchange factor 1 () gene (OMIM 606483), was described in seven cases from four unrelated families with autosomal dominant inheritance. It is characterized by slowly progressive distal muscle weakness and atrophy, primarily affecting the lower limbs.
View Article and Find Full Text PDFAdult-onset vanishing white matter disease due to a novel compound heterozygous EIF2B2 mutation: a case report and brief review.
Neurol Sci
January 2025
Department of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Background And Objectives: Vanishing white matter disease (VWMD) is an autosomal recessive leukoencephalopathy caused by mutations in the EIF2B1-5 genes, typically rare in adulthood. We present a case of adult-onset VWMD with a novel EIF2B2 mutation.
Methods: We collected the patient's clinical data, cerebrospinal fluid (CSF) results, laboratory tests, imaging features, genetic analysis, and follow-up data over a 4-year period.
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