8 results match your criteria: "Hefei Maternal and Child Health Care Hospital[Affiliation]"
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.
Hum Genomics
July 2024
Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Article Synopsis
- Isolated methylmalonic acidemia, often caused by mutations in the methylmalonyl-CoA mutase gene, can be detected through newborn screening (NBS) or clinically after onset, and this study compares outcomes between these methods of diagnosis.
- The analysis included 168 patients diagnosed via NBS and 210 diagnosed clinically, evaluating factors like age at diagnosis, treatment response, and long-term outcomes.
- Results indicated that NBS-detected patients had better prognoses, including earlier diagnosis, improved treatment response, and reduced disease onset, suggesting that NBS improves survival rates for infants with this condition.
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
World J Pediatr
August 2024
Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China.
Article Synopsis
- - The study focused on understanding the effects of the MMACHC c.482G > A mutation linked to CblC disease in 195 Chinese patients, analyzing their clinical features and outcomes over a median follow-up of nearly 4 years.
- - It was found that 64.1% of patients were identified through newborn screening, with a significant portion remaining asymptomatic, while symptomatic cases showed a later onset of symptoms such as developmental delays and cognitive issues.
- - In comparison, 159 symptomatic patients without the c.482G > A mutation exhibited different clinical manifestations, highlighting variations in disease presentation depending on the specific genetic mutation.
Evaluation of the clinical, biochemical, genotype and prognosis of -type methylmalonic acidemia in 365 Chinese cases.
J Med Genet
December 2023
Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China
Background: Methylmalonic acidemia (MMA), which results from defects in methylmalonyl-CoA mutase ( type) or its cofactor, is the most common inherited organic acid metabolic disease in China. This study aimed to investigate the phenotype and genotype of -type MMA in Chinese patients.
Methods: We recruited 365 patients with -type MMA; investigated their disease onset, newborn screening (NBS) status, biochemical metabolite levels, gene variations and prognosis; and explored the relationship between phenotype and genotype.
Dural puncture epidural technique provides better anesthesia quality in repeat cesarean delivery than epidural technique: Randomized controlled study.
World J Clin Cases
July 2022
Department of Anesthesiology, Hefei Maternal and Child Health Care Hospital, Hefei 230001, Anhui Province, China.
Background: Repeat cesarean deliverys involve a longer surgery and more severe visceral traction than primary cesarean deliverys. The dural puncture epidural (DPE) technique provides faster and more effective analgesia for labor, but there is no sufficient evidence to indicate whether it is suitable for parturients undergoing repeat cesarean delivery.
Aim: To determine the efficacy and safety of the DPE anesthesia technique in patients undergoing repeat cesarean delivery.
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.
Front Genet
February 2022
Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
The cblC type of combined methylmalonic acidemia and homocystinuria, an inherited disorder with variable phenotypes, is included in newborn screening (NBS) programs at multiple newborn screening centers in China. The present study aimed to investigate the long-term clinical benefits of screening individual. A national, retrospective multi-center study of infants with confirmed cblC defect identified by NBS between 2004 and 2020 was conducted.
View Article and Find Full Text PDFDifferent mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Mol Genet Genomic Med
November 2021
Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Children's Hospital, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Background: To summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA.
Methods: This was a retrospective study of patients diagnosed with mut-type MMA. All patients with mut-type MMA were tested for responsiveness to vitamin B12.
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Orphanet J Rare Dis
January 2021
Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Background: Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.
View Article and Find Full Text PDFThe incidence of uterine cervical carcinoma, though decreasing in many cities of China, dose not show any diminution in the rural areas where it appears to be high in some regions. Therefore, radical hysterectomy is particularly important for the patients with cervical adenocarcinoma and squamous adenocarcinoma which are insensitive to chemotherapy and radiotherapy. The operation is effective in the treatment of early cervical carcinoma and even late carcinoma when the procedure is combined with extraperitoneal radical lymphadenectomy, radiotherapy and chemotherapy reinforced by the traditional Chinese medicine.
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