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更新于：2025-05-07

Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps

正中唇裂、胼胝体、脂肪瘤和皮肤息肉

更新于：2025-05-07

基本信息

别名

CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA、Cleft, median, of upper lip with polyps of facial skin and nasal mucosa、Median cleft lip, corpus callosum, lipoma, and skin polyps

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简介

An idiopathic developmental disorder with characteristics of median cleft of the upper lip, midline polyps of the facial skin and nasal mucosa and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Presents at birth with a variable phenotype ranging from mild facial dysmorphism to more severe anomalies resembling frontonasal dysplasia. Normal neuropsychological development was reported in all but one case that presented with epileptic seizures. Sacral dimples may be observed at birth, and hypospadias has been reported in some male patients.

关联

项与正中唇裂、胼胝体、脂肪瘤和皮肤息肉相关的临床试验

ChiCTR2400086389

/ Suspended临床1期IIT

To evaluate the safety, tolerability, PK profile and efficacy of YZJT-1705 injection in patients undergoing abdominal surgery in a multicenter, randomized, double-blind, dose-escalation, positive drug parallel controlled clinical trial - YZJT - 1705 injection analgesic efficacy and safety after abdominal surgery: a multicenter, randomized, double-blind, dose escalation, positive drug parallel contrast ? period clinical trials

开始日期2024-07-01

申办/合作机构

中南大学湘雅三医院

100 项与正中唇裂、胼胝体、脂肪瘤和皮肤息肉相关的临床结果

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100 项与正中唇裂、胼胝体、脂肪瘤和皮肤息肉相关的转化医学

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0 项与正中唇裂、胼胝体、脂肪瘤和皮肤息肉相关的专利（医药）

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163

项与正中唇裂、胼胝体、脂肪瘤和皮肤息肉相关的文献（医药）

2025-03-03·European Journal of Endocrinology

Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency

Article

作者: Read, Jordan ; Qamar, Younus ; Mohamadsalih, Ghassan ; Hall, Charlotte L ; Metherell, Louise A ; Maitra, Saptarshi ; Maharaj, Avinaash V ; Ibrahim, Areej A ; Fauzi, Luqman S ; Hutchison, Claire ; Smith, Chris J ; Ahmed, Amna I ; Marroquin Ramirez, Lucia M ; Musa, Salwa A ; Mohammedali, Marwa ; Babiker, Omer O ; Chan, Li F ; Abdullah, Mohamed A ; Hassan, Samar S

AbstractObjectiveStudies of primary adrenal insufficiency (PAI) in African children are rare, but in Sudan, congenital adrenal hyperplasia (CAH) and triple A syndrome are the most common genetic causes. Differential diagnosis is challenging, especially in resource-limited settings, where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing may be restricted.DesignForty-eight patients from 43 families (31 male:17 female) with PAI were included (CAH/triple A excluded). Additional features seen included white matter changes on magnetic resonance imaging, auto-immune features, and/or obesity. Sanger and whole exome sequencing (WES) were employed for diagnosis, confirmation, and segregation with in vitro assays to investigate potential splice defects.ResultsIn 21/43 families, a genetic aetiology consistent with non-autoimmune PAI was discovered, and in 3 families, autoimmune regulator (AIRE) mutations were found, indicating an autoimmune origin. In Sudan, adenosine triphosphate (ATP) binding cassette subfamily D member 1 (ABCD1)/nicotinamide nucleotide transhydrogenase (NNT)/AIRE mutations were commonest, including recurrent NNT splice and AIRE deletion mutations. In 2 families, we identified ARSA mutations fitting a diagnosis of metachromatic leucodystrophy (MLD), in which adrenal insufficiency has not previously been described. In the remaining 17 families, no causative gene mutations were found. Putative causal variants for comorbidities were concomitantly detected.ConclusionsIn this population, WES revealed itself as a useful frontline tool for the differential diagnosis of individuals presenting with adrenal insufficiency, including discrimination between MLD and adrenoleucodystrophy and giving plausible gene defects for additional comorbidities such as obesity. Such genetic diagnoses are crucial to design optimal treatment plans and for genetic counselling in affected individuals and their families.

2025-01-01·Archives de Pédiatrie

Primary adrenal insufficiency in children excluding congenital adrenal hyperplasia: insights from 33-year single-center experience in Tunisia

Article

作者: Kamoun, Thouraya ; Kamoun, Hassen ; Chabchoub, Imen ; Bessghaier, Wissem ; Maaloul, Ines ; Ameur, Salma Ben ; Morel, Yves ; Khalfallah, Rania ; Aloulou, Hajer

BACKGROUNDPrimary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. Congenital adrenal hyperplasia (CAH) is the most common cause of PAI in children. To date, numerous non-CAH causes have been identified through genetic analysis but they remain poorly characterized.OBJECTIVEWe aimed to describe the clinical presentation, etiology, genetic analysis, and long-term outcome of non-CAH PAI in children.METHODSWe retrospectively collected clinical and laboratory data from patients with non-CAH PAI who were followed up during a period of 33 years (1988-2020) at the pediatric department of a university hospital center in southern Tunisia.RESULTSWe identified 52 patients with non-CAH PAI (35 boys and 17 girls). The mean age at diagnosis was 4.8 years (0.05-18.7 years). Hyperpigmentation was the most frequent symptom at diagnosis (92.3%), followed by asthenia (84.6%), weight loss (57.7%), recurrent vomiting (53.8%), and dehydration (42.3%). The most prominent biochemical findings were hyponatremia (60.4%), hypoglycemia (35.4%), and hyperkalemia (16.6%). A total of 21patients (40.4%) presented with adrenal crisis at disease onset. The most common causes of non-CAH PAI were inherited genetic conditions and included Allgrove syndrome (n=15), X-linked adrenoleukodystrophy (n=10), autoimmune polyglandular syndrome (APS) type 2 (n=2), familial glucocorticoid deficiency type 1 (n=1), MCM4 mutation responsible for DNA repair defect (n=1), SF1 deficiency (n=1), APS type 1 (n=1), and autoimmune PAI (n=3). The cause of PAI remained unknown in 34.6% of cases. During follow-up, 24 patients (46.2%) presented with statural growth delay, and eight patients (15.4%) developed obesity.CONCLUSIONAllgrove syndrome was the most common etiology of non-CAH PAI in our study, followed by X-linked adrenoleukodystrophy. Today, advanced molecular analysis can be useful for diagnostic investigations, especially in patients with no specific diagnostic features.

2025-01-01·Chinese Journal of Traumatology

Protocolized approach saves the limb in peripheral arterial injury: A decade experience

Article

作者: Priyadarshini, Pratyusha ; Bagaria, Dinesh ; Kumar, Abhinav ; Gupta, Amit ; Gupta, Komal ; Kaur, Supreet ; Alam, Junaid ; Mishra, Biplab ; Kumar, Subodh ; Choudhary, Narender ; Sagar, Sushma

PURPOSEOutcomes of peripheral arterial injury (PAI) depend on various factors, such as warm ischemia time and concomitant injuries. Suboptimal prehospital care may lead to delayed presentation, and a lack of dedicated trauma system may lead to poorer outcome. Also, there are few reports of these outcomes. The study aims to review our experience of PAI management for more than a decade, and identify the predictors of limb loss in these patients.METHODSThis is a retrospective analysis of prospectively maintained database of trauma admissions at a level I trauma center from January 2008 to December 2019. Patients with acute upper limb arterial injuries or lower limb arterial injuries at or above the level of popliteal artery were included. Association of limb loss with ischemia time, mechanism of injury, and concomitant injuries was studied using multiple logistic regressions. Statistical analysis was performed using STATA version 15.0 (Stata Corp LLC, Texas).RESULTSOut of 716 patients with PAI, the majority (91.9%) were young males. Blunt trauma was the most common mechanism of injury. Median ischemia time was 4 h (interquartile range 2-7 h). Brachial artery (28.5%) was the most common injured vessel followed by popliteal artery (17.5%) and femoral artery (17.3%). Limb salvage rate was 78%. Out of them, 158 (22.1%) patients needed amputation, and 53 (7.4%) had undergone primary amputation. The majority (88.6%) of patients who required primary or secondary amputations had blunt trauma. On multivariate analysis, blunt trauma, ischemia time more than 6 h and concomitant venous, skeletal, and soft tissue injuries were associated with higher odds of amputation.CONCLUSIONOver all limb salvage rates was 77.9% in our series. Blunt mechanism of injury and associated skeletal and soft tissue injury, ischemia time more than 6 h portend a poor prognosis. Injury prevention, robust prehospital care, and rapid referral to specialized trauma center are few efficient measures, which can decrease the morbidity associated with vascular injury.

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