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| http://dx.doi.org/10.3343/alm.2020.40.4.337 | DOI Listing |
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Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.
Neurogenetics
January 2025
Department of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Background: Mutations in the LARS2 gene are correlated with Perrault syndrome, a rare autosomal recessive genetic disorder, that is typically characterized by sensorineural hearing loss and ovarian insufficiency.
Methods: Whole-exome sequencing and mutational analysis were employed to identify hearing loss-causing genes in a Chinese family from the Guangxi Zhuang Autonomous Region. Clinical phenotypes, audiological data, and color Doppler ultrasound of the family were collected, and a series of computer software were used to analyze the impact of genetic variations on protein structure and function.
Novel gene mutation associated with central precocious puberty in a Chinese child: a case report.
Front Endocrinol (Lausanne)
January 2025
Baoding Hospital, Beijing Children's Hospital Affiliated with Capital Medical University, Baoding, China.
Objective: The objective of this study is to investigate the clinical presentation and underlying genetic etiology of a Chinese child diagnosed with idiopathic central precocious puberty (ICPP).
Methods: Clinical data from a pediatric patient with ICPP, including medical history, physical examination findings, laboratory results, and imaging studies, were collected and analyzed. Whole exome sequencing (WES) was performed to identify potential pathogenic genetic variants underlying the patient's ICPP.
A Case of X-Linked Agammaglobulinemia and COVID-19 in a Japanese Infant.
J Nippon Med Sch
January 2025
Department of Pediatrics, Nippon Medical School.
An infant was diagnosed as having X-linked agammaglobulinemia (XLA) at age 3 months and was receiving immunoglobulin replacement therapy. He developed SARS-CoV-2 infection at age 7 months and was treated with intravenous immunoglobulin, remdesivir, and dexamethasone. His respiratory symptoms improved quickly, and the infection resolved.
View Article and Find Full Text PDFIdentification of a pathogenic SDHD mutation in a Chinese family with hereditary head and neck paraganglioma: implications for genetic counseling and management.
World J Surg Oncol
January 2025
Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring Road West, Fengtai District, Beijing, 100070, China.
Background: This study aims to identify a pathogenic SDHD mutation associated with hereditary head and neck paraganglioma (HNPGL) in a Chinese family and to explore its implications for genetic counseling.
Methods: The study involved a family with 15 members spanning three generations. A 31-year-old patient (II-4) was diagnosed with a left parotid gland tumor and a right carotid body tumor, while both the father and elder sister had right carotid body tumors, and the third sister had bilateral carotid body tumors.
Limited Reconstructive Options of Jaw Osteomyelitis in the Osteopetrosis Patient Complicated by Blood Dyscrasia.
J Craniofac Surg
January 2025
Department of Oral and Maxillofacial Surgery, Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
Osteopetrosis is a rare systemic skeletal disorder characterized by increased bone density and mass resulting from suboptimal or impaired resorption of osteoclastic bone. Compromised bone marrow function and associated disorders of red blood cells contribute to hematopoietic abnormalities, which exacerbate the risk of complex, recurrent infections such as jaw osteomyelitis. This case report describes the treatment of a 68-year-old Korean female with autosomal-dominant osteopetrosis who presented with severe and persistent jaw osteomyelitis complicated by hematopoietic dysregulation.
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