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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.
[Aggressive mucinous tubular and spindle cell carcinoma of the kidney: a clinicopathological and genetic analysis of four cases].
Zhonghua Bing Li Xue Za Zhi
January 2025
Department of Pathology, School of Basic Medical Sciences, Peking University Third Hospital, Peking University Health Science Center, Beijing100191, China.
To understand the clinicopathological and molecular genetic characteristics of aggressive renal mucinous tubular and spindle cell carcinoma (MTSCC). The clinical features, histology, immunophenotype, molecular characteristics and prognosis of 4 cases of metastatic/recurrent renal MTSCC that were submitted to the Peking University Third Hospital (2 cases), Institute of Urology, Peking University (one case) and Zhejiang Provincial People's Hospital (one case) from 2015 to 2020 were retrospectively reviewed and analyzed. Among the four patients, two were male and two were female.
View Article and Find Full Text PDF[Atrophic kidney-like lesion: a clinicopathological study of three cases].
Zhonghua Bing Li Xue Za Zhi
January 2025
Ningbo Clinical Pathology Diagnosis Center, Ningbo315000, China.
To investigate the clinicopathological characteristics, immunophenotypes, diagnostic criteria and differential diagnosis of atrophic kidney-like lesion (AKLL). Three cases of AKLL were collected from April 2021 to October 2023 at the Xiangya Hospital of Central South University, Changsha, Zhejiang Provincial People's Hospital, Hangzhou and Ningbo Clinical Pathology Diagnosis Center, Ningbo, China. The clinical, morphological, and immunohistochemical characteristics were analyzed.
View Article and Find Full Text PDFDiffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.
J Inherit Metab Dis
January 2025
Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder leading to deleterious brain effects. While animal models suggested that MPS I severely affects white matter (WM), whole-brain diffusion tensor imaging (DTI) analysis was not performed due to MPS-related morphological abnormalities. 3T DTI data from 28 severe (MPS IH, treated with hematopoietic stem cell transplantation-HSCT), 16 attenuated MPS I patients (MPS IA) enrolled under the study protocol NCT01870375, and 27 healthy controls (HC) were analyzed using the free-water correction (FWC) method to resolve macrostructural partial volume effects and unravel differences in DTI metrics accounting for microstructural abnormalities.
View Article and Find Full Text PDFAnomalous drainage of lingular vein into left inferior pulmonary vein during thoracoscopic lung cancer surgery.
J Cardiothorac Surg
January 2025
Department of Thoracic Surgery, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, University of Electronic Science and Technology of China, Chengdu, China.
Background: The intricate anatomical variations in lung structure often perplex thoracic surgeons, and the accurate identification of these variations is closely associated with favorable surgical outcomes.
Case Presentation: A 53-year-old female patient who underwent computed tomography (CT) examination due to chest discomfort, revealing the presence of a partial solid nodule highly suspected of early-stage lung cancer, measuring approximately 2.8 × 2.
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