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11.
Cécile Q.T. Nguyen Marie-Hélène Denis Miguel Chagnon Rémi Rabasa-Lhoret Geneviève Mailhot 《Nutrition, metabolism, and cardiovascular diseases : NMCD》2021,31(1):277-285
Background and aimsDeterioration of anthropometric and lung function parameters was shown to precede the onset of cystic fibrosis-related diabetes (CFRD) in adults. In children, studies have been conducted in small cohorts with relatively short observation period. Study objectives were to document the longitudinal trends of anthropometric, pulmonary, nutritional and metabolic parameters from cystic fibrosis (CF) diagnosis to the ascertainment of abnormal glucose tolerance and identify parameters associated with the incidence of such abnormalities in a pediatric CF cohort.Methods and resultsRetrospective cohort study of 281 children with CF. Longitudinal trends of anthropometric, lung function, nutritional and metabolic data were generated from CF diagnosis to the ascertainment of abnormal glucose tolerance defined as the presence of either impaired glucose tolerance (IGT), unconfirmed CFRD or CFRD. Cox models and Kaplan–Meier curves were used to identify factors associated with developing abnormal glucose tolerance.Forty-five percent of cohort had normal glucose tolerance (NGT), 27% IGT, 10% unconfirmed CFRD and 18% CFRD. Children who developed CFRD displayed lower height z-scores from a very early age. Conversely, HbA1c levels began to rise closer to CFRD ascertainment. Height z-scores (HR: 0.45; CI 95% [0.29–0.69]) and HbA1c (HR: 2.43; CI 95% [1.86–3.18]) in years preceding ascertainment were associated with the risk of developing CFRD.ConclusionChildren who developed CFRD display distinctive trends for height z-scores from a very early age, whereas HbA1c appears as a marker of established glucose metabolism derangements. 相似文献
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Morokoff Andrew Jones Jordan Nguyen Hong Ma Chenkai Lasocki Arian Gaillard Frank Bennett Iwan Luwor Rod Stylli Stanley Paradiso Lucia Koldej Rachel Paldor Iddo Molania Ramyar Speed Terence P. Webb Andrew Infusini Guiseppe Li Jason Malpas Charles Kalincik Tomas Drummond Katharine Siegal Tali Kaye Andrew H. 《Journal of neuro-oncology》2020,148(3):401-418
Journal of Neuro-Oncology - We performed a systematic review and meta-analysis of clinical outcomes for patients with acromegaly treated with stereotactic radiosurgery (SRS). Primary outcomes were... 相似文献
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Lynette G. Sadleir Guillem de Valles-Ibáñez Chontelle King Matthew Coleman Stuart Mossman Sarah Paterson John Nguyen Samuel F. Berkovic Saul Mullen Melanie Bahlo Michael S. Hildebrand Heather C. Mefford Ingrid E. Scheffer 《Epilepsia》2020,61(4):e23-e29
Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n = 1021), overlap of generalized and occipital epilepsy (n = 84), and photosensitivity (n = 123). Following interviews and review of medical records, individuals' seizure and epilepsy syndromes were classified. Three novel missense variants and one exon 3 deletion were predicted to be pathogenic by in silico tools, not found in population databases, and located in key evolutionary conserved domains. Median age at seizure onset was 3.5 years (0.5-10 years). Generalized, predominantly absence and myoclonic, and occipital seizures were seen in all families, often within the same individual (6/11). All individuals with epilepsy were photosensitive, and seven of 11 had cognitive abnormalities. Electroencephalograms showed generalized spike and wave and/or polyspike and wave. Here we show a striking RORB phenotype of overlap of photosensitive generalized and occipital epilepsy in both individuals and families. This is the first report of a gene associated with this overlap of epilepsy syndromes. 相似文献
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Yan Xiang Ata S. Moshiri Edward F. Chan Trisha S. Dasgupta Heidi Kozic Rosalie Elenitsas Cuong V. Nguyen 《Journal of cutaneous pathology》2020,47(3):286-290
Sclerotic lipomas, a lipoma variant, are benign subcutaneous tumors, so-named because of their resemblance to sclerotic fibromas. Previous literature has suggested that these tumors may show a predilection for middle-aged adult males. We report an unusual case of a sclerotic lipoma diagnosed on the scalp of a 66-year-old female. The patient presented to the outpatient clinic with a 3- to 4-year history of an enlarging and irritated 2.6-cm nodule on the anterior crown of the scalp, clinically thought to be a pilar cyst. Histopathological examination from the excisional specimen revealed a well-circumscribed dermal to subcutaneous tumor with ample sclerotic collagen bundles, an increased number of CD34 positive spindled cells, and prominent S-100 positive mature adipocytes comprising greater than 50% of the tumor. We present this case given its atypical clinical and histopathological presentation, review the literature of sclerotic lipomas, and discuss the differential diagnosis to raise awareness of this rare entity. 相似文献
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