A5085651212- Antibiotic Resistance in Bacteria
- Hearing, Cochlea, Tinnitus, Genetics
- Pneumonia and Respiratory Infections
- Cell Adhesion Molecules Research
- Genetic Syndromes and Imprinting
- Lipid metabolism and disorders
- Tuberculosis Research and Epidemiology
- Forensic and Genetic Research
- Yersinia bacterium, plague, ectoparasites research
- Hepatitis B Virus Studies
- Genomics and Phylogenetic Studies
- Mitochondrial Function and Pathology
- T-cell and Retrovirus Studies
- RNA regulation and disease
- Hepatitis C virus research
- Vibrio bacteria research studies
- Probiotics and Fermented Foods
- Nutrition, Genetics, and Disease
- Microbial Natural Products and Biosynthesis
- Prenatal Screening and Diagnostics
- Eicosanoids and Hypertension Pharmacology
- Connective tissue disorders research
- Enzyme Structure and Function
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cardiovascular Health and Risk Factors
First Affiliated Hospital of Wenzhou Medical University
2023-2024
Wenzhou Medical University
2023-2024
Jinan University
2005-2023
Southern University of Science and Technology
2023
ShenZhen People’s Hospital
2009-2013
Kagoshima University
1998-2002
YKK (Japan)
2000
Hearing loss is genetically heterogeneous and one of the most common human defects. Here we screened underlying mutations that caused autosomal recessive non-syndromic hearing in a Chinese family. The proband with profound had received audiometric assessments. We performed target region capture next generation sequencing 127 known deafness-related genes because individual tested negative for hotspot variants GJB2, GJB3, SLC26A4, MTRNR1 genes. identified novel c.6892C > T (p.R2298*) nonsense...
In many short-stature patients with human T-lymphotrophic virus type I-associated myelopathy/tropical spastic paraparesis (HAM/TSP), signs and symptoms were manifested during childhood. Successive investigations revealed 12 of 14 pseudohypoparathyroidism (PHP) from the findings short metacarpi, parathyroid hormone infusion test, immunoblotting erythrocyte membrane, or lymphocytic Northern blotting Gsalpha. Patients PHP probably showed HAM/TSP based on their modified immunologic status. Human...
A Patient with Acute
<title>Abstract</title> <bold>Background:</bold> <bold>Pneumocystis jiroveci pneumonia (PJP) is one of the common opportunistic infectious diseases thelungs in immunosuppressed populations. With global epidemic Delta variant novel coronavirus (SARS-CoV-2), it has been found that patients with can have concurrent or subsequent co-infection Pneumocystis jiroveci. The purpose this paper was to investigate clinical characteristics and diagnosis treatment secondary (COVID-19) infection.</bold>...
To detect the GJB2 gene mutation in patients with autosomal-recessive deafness, and analyze relationship between clinical phenotype mutation.Forty-two were examined clinically by pure tone audiometry, acoustic impedance auditory brainstem response. The complete coding region of was amplified polymerase chain reaction (PCR) PCR products subjected to automatic DNA sequencing.Two cases had homozygous 235delC. One them sensorineural hearing loss while other mixed loss. Heterozygous 176del16bp...