A5109441521- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Assisted Reproductive Technology and Twin Pregnancy
- Reproductive Biology and Fertility
- Renal and related cancers
- Genetic Syndromes and Imprinting
- Muscle Physiology and Disorders
- Molecular Biology Techniques and Applications
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Fetal and Pediatric Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Chromosomal and Genetic Variations
- Lung Cancer Treatments and Mutations
- Pluripotent Stem Cells Research
- Animal Genetics and Reproduction
- Cell Adhesion Molecules Research
- Immunodeficiency and Autoimmune Disorders
- Ovarian cancer diagnosis and treatment
- Cardiomyopathy and Myosin Studies
- Parvovirus B19 Infection Studies
- Natural Compounds in Disease Treatment
- Proteoglycans and glycosaminoglycans research
- Microbial metabolism and enzyme function
- Artificial Intelligence in Healthcare and Education
Northeastern University
2025
First People's Hospital of Yunnan Province
2023
National University of Singapore
2023
Health and Human Development (2HD) Research Network
2023
The First Hospital of Kunming
2019-2021
University of Ibadan
2019
Northeast Ohio Medical University
2015
University of North Dakota
2010
Prince of Wales Hospital
1993-2000
South Eastern Sydney Local Health District
2000
Abstract Objective Modern in vitro fertilization practices involve transfer of embryos as blastocysts, when anabolic metabolism is well established and pregnancy rates can be maintained while transferring singly to avoid multiple pregnancies. Embryo biopsy for preimplantation genetic diagnosis (PGD), however, generally performed on day 3, the embryo comprises just 6 8 cells, one or two which are removed testing. Implantation clinical have remained relatively low a harmful effect from losing...
Abstract Introduction Facioscapulohumeral muscular dystrophy 1 (FSHD1) is a relatively common autosomal dominant adult with variable disease penetrance. The caused by shortening of D4Z4 repeat array located near the telomere chromosome 4 at 4q35. This causes activation dormant gene DUX4 , permitting aberrant expression which toxic to muscles. Molecular diagnosis FSHD1 Southern blot hybridization or FISH combing difficult and time consuming, requiring specialist laboratories. As an...
Preimplantation genetic diagnosis (PGD) for structural chromosome abnormalities traditionally uses fluorescence in situ hybridization (FISH) techniques. Although relatively straight forward, FISH is technically demanding with several process problems which include cell loss, overlap, variable fixation and as well sample mosaicism. Increasingly, alternative techniques analysis embryos are being investigated an attempt to improve on current test outcomes. Here, we report the first routine...
Background Large language models (LLMs) have many clinical applications. However, the comparative performance of different LLMs on orthopedic board style questions remains largely unknown. Methods Three LLMs, OpenAI’s GPT-4 and GPT-3.5, Google Bard, were tested 189 official 2022 Orthopedic In-Training Examination (OITE) questions. Comparative analyses conducted to assess their against resident scores higher-order, image-associated, subject category-specific Results surpassed passing...
Abstract Biological age refers to a person’s overall health in aging, as distinct from their chronological age. Diverse measures of biological age, referred “clocks”, have been developed recent years and enable risk assessments, an estimation the efficacy longevity interventions animals humans. While most clocks are trained predict more complex composite outcomes, at least These outcomes can be made up combination phenotypic data, disease or mortality risk. Here, we develop first such...
Testicular germ cell tumours (TGCTs) may arise through a process of multi-step carcinogenesis, and loss heterozygosity (LOH) at specific loci is likely to be an important early event, although this has not been studied in detail. In order explore the pathogenetic relationships among TGCTs, we investigated genetic changes testicular that exhibit disease continuum precursor carcinoma situ (CIS) either seminoma (SE) and/or non-seminomatous tumour (NSGCT). Universal amplification performed on 87...
The aim of this study was to assess the detection chromosomal mosaicism in chorionic villus (CVS) and amniotic fluid (AF) samples using array comparative genomic hybridization (aCGH) quantitative fluorescent polymerase chain reaction.All patients undergoing invasive prenatal testing by aCGH at a specialist screening service were included study. A total 1609 (953 CVS 656 AF) underwent reaction targeted without concurrent conventional G-banded karyotyping.Chromosomal detected 20 cases (1.24%);...
Rhesus (Rh) D alloimmunization may cause haemolytic disease of the fetus and newborn if fetal Rh blood type is positive. Although incidence severe RhD has decreased with prophylactic anti-D immunoglobulin administration during after pregnancy, sensitization still occurs in a small group women. In such women, will continue to be significant problem for their babies who affected. Preimplantation genetic diagnosis (PGD) utilized avoid materno-fetal incompatibility an RhD-sensitized woman....
Abstract We adapted flow cytometry technology for high‐purity sorting of X chromosome‐bearing spermatozoa in the western lowland gorilla ( Gorilla ). Our objectives were to develop methodologies liquid storage semen prior sorting, liquid‐stored and frozen‐thawed spermatozoa, assessment accuracy. In study 1, vitro sperm characteristics ejaculates from one male unchanged P >0.05) after 8 hr at 15°C a non‐egg yolk diluent (HEPES‐buffered modified Tyrode's medium). 2, we examined efficacy...
We report an analysis of allelic diversity at short tandem repeat polymorphisms within the fragile XA locus in 1069 male volunteers from twelve Indonesian sub-populations. An odd numbered allele DXS548 was found high frequency all populations. Greater identified loci under study than has been previously reported for Asian population. These differences distinguish population Asian, European and African A small premutation alleles, 4/120 (3.3%, 95% CI 0.9-8.3%), Moluccan Hiri Island.
Laboratory data suggest an association between statins and risk of brain metastasis (BM) in patients diagnosed with lung cancer. Our retrospective cohort included 252 cancer 55 (22%) subsequently developed BM. The BM was significantly higher younger (p < .0007). multivariable Cox model did not show a significant statin use from (Hazard-Ratio (HR) = 1.20, 95% confidence interval (CI): 0.68-2.13). Future studies should focus on late stage NSCLC examine the incidence among users at time death.
Severe combined immunodeficiency is a heterogenous syndrome of varied genetic origins which the X‐linked type commonest (XSCID). The most sensitive method for diagnosis XSCID in absence inheritance pattern by mutation analysis. In this report we have performed analysis 13 unrelated boys transplanted (BMT) SCID without known cause to determine frequency XSCID. Five had an affected male relative. We also assessed utility hair roots children pre‐transplant blood stored since donor genotype was...