Polymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children [0.03%]
蛋白酶体基因多态性可为儿童系统性自身免疫病的风险因素
Ivan Y Bakutenko,Irena D Hileuskaya,Natalia V Nikitchenko et al.
Ivan Y Bakutenko et al.
The study aimed to assess the involvement of three proteasomal genes, PSMA6 , PSMC6 , and PSMA3 , in autoimmune pathogenesis by analyzing associations between single nucleotide polymorphisms and systemic rheumatic diseases with a different ...
GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil [0.03%]
巴西南部分离出的GATA 4基因缺失与先天性心脏病相关
Maiara A Floriani,Andressa B Glaeser,Luiza E Dorfman et al.
Maiara A Floriani et al.
The normal development of the heart comprises a highly regulated machinery of genetic events, involving transcriptional factors. Congenital heart disease (CHD), have been associated with chromosomal abnormalities and copy number variants (C...
Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy [0.03%]
印度芳香族L-氨基酸脱羧酶缺乏患儿的临床特点及预后：一种以脑瘫为表现的脑脊液神经递质紊乱性疾病
Vykuntaraju K Gowda,Hemadri Vegda,Balamurugan B Nagarajan et al.
Vykuntaraju K Gowda et al.
Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of neurotransmitter synthesis. It presents with psychomotor delay, dystonia, oculogyric crisis, and autonomic features. There is paucity of literature on this disorder. Hen...
A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis [0.03%]
KAT6A框移突变与全颅缝早闭有关
Fady P Marji,Jennifer A Hall,Erin Anstadt et al.
Fady P Marji et al.
De novo heterozygous mutations in the KAT6A gene give rise to a distinct intellectual disability syndrome, with features including speech delay, cardiac anomalies, craniofacial dysmorphisms, and craniosynostosis. Here, we reported a 16-year...
Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency [0.03%]
扩大质子磁共振光谱的作用：在部分鸟氨酸转甲酰酶缺乏症中及时诊断和启动治疗
Kuntal Sen,Carlos Castillo Pinto,Andrea L Gropman
Kuntal Sen
We report the case of a 3-year-old male patient who presented with a 3-day history of altered mental status, emesis, and abdominal pain in the setting of a viral illness. A rapid screening revealed a high ammonia level and after reviewing h...
Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing [0.03%]
基因型到表型：利用外显子组测序鉴定二型B类黏多糖贮积症（桑菲利波氏病B）患者病例
Muhsin Elmas,Basak Gogus,Furkan Kılıçarslan et al.
Muhsin Elmas et al.
Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is α-N acetylglucosaminidase. Thi...
Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss [0.03%]
听觉丧失靶向基因检测的独特标志——完全迷路 aplasia
Meenakshi Lallar,Veronica Arora,Renu Saxena et al.
Meenakshi Lallar et al.
Complete labyrinthine aplasia (CLA) is a rare inner ear anomaly. The only identified genetic cause of CLA with severe sensorineural hearing loss is labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome. Here we reported a child wh...
Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism [0.03%]
巴西家族 cherubism 的罕见特征及其表达的可变性
Desirée Deconte,Elisa Pacheco Estima Correia,Géssica Haubert et al.
Desirée Deconte et al.
Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymp...
A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature [0.03%]
盐浪费型先天性肾上腺皮质增生症三重纯合突变病例分析及文献复习
Maria Laura Iezzi,Gaia Varriale,Luca Zagaroli et al.
Maria Laura Iezzi et al.
Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as cl...
Endotracheal Intubation Using Alfentanil in a Pediatric Patient with a Mitochondrial Myopathy and Gastroparesis [0.03%]
应用阿芬太尼对一例线粒体肌病合并胃轻瘫患儿进行气管插管
Sonia D Mehta,Wendy L Leavitt,Gijo Alex et al.
Sonia D Mehta et al.
Children with mitochondrial disorders represent a subset of patients who require unique anesthetic considerations. Routinely administered medications for general anesthesia, such as propofol, have been shown to increase the risk of developi...