We report an apparently benign familial 9p subtelomere deletion identified using chromosome-arm-specific subtelomere probes in a patient with multiple congenital anomalies. Our experience demonstrated that the discovery of a subtelomeric deletion and/or duplication does not always guarantee the identification of the etiology for the patient's phenotype and a positive finding with subtelomere probes should always be followed by parental study with the same probe in order to distinguish a disease causing alteration from a benign familial polymorphism.

The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.
Genes, Tumor Suppressor ; Genetic Techniques ; Genetics, Medical ; Humans ; Neoplasms ; diagnosis ; genetics ; Nucleic Acid Hybridization ; Sequence Analysis, DNA

The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.
Chromosomes ; ultrastructure ; Cytogenetic Analysis ; Cytogenetics ; methods ; Genetic Techniques ; Humans ; In Situ Hybridization, Fluorescence ; Molecular Diagnostic Techniques ; Nucleic Acid Hybridization ; Oligonucleotide Array Sequence Analysis ; Translocation, Genetic

The rapid development of next-generation sequencing (NGS) technology, including advances in sequencing chemistry, sequencing technologies, bioinformatics, and data interpretation, has facilitated its wide clinical application in precision medicine. This review describes current sequencing technologies, including short- and long-read sequencing technologies, and highlights the clinical application of NGS in inherited diseases, oncology, and infectious diseases. We review NGS approaches and clinical diagnosis for constitutional disorders; summarize the application of U.S. Food and Drug Administration-approved NGS panels, cancer biomarkers, minimal residual disease, and liquid biopsy in clinical oncology; and consider epidemiological surveillance, identification of pathogens, and the importance of host microbiome in infectious diseases. Finally, we discuss the challenges and future perspectives of clinical NGS tests.

Introduction: The purpose of this study was to investigate the effect of incremental running intensity on heart rate variability during recovery in university-level male football athletes. Methods: Twenty healthy males aged between 19-26 years old were randomly assigned to control (no running) and intervention (modified Bruce protocol running) groups. Analyses were performed at pre-exercise, 24, 48, and 72 h post-exercise. The low-frequency (LF) and high frequency (HF) in peak, absolute power and normalised unit (n.u.), as well as LF/HF ratio, were assessed. Results: Intervention group showed a reduced LF n.u. response (ES=1.69) whereas HF n.u. showed the opposite response (ES=1.51) at 24 h post-exercise. The intervention group showed a significant difference in the LF/HF ratio at 48 h post-exercise (p=0.002; ES=1.05). Conclusion: These findings demonstrated that incremental type of exercise influence both sympathetic and parasympathetic response for at least 48 h post-exercise.

Introduction: This study investigated the effect of combined plant-based protein supplementation and resistance training on muscular strength, blood markers of protein catabolism, immune function, and bone metabolism in sedentary adult males. Methods: In this randomised, double-blinded study, 28 healthy males aged 19 – 29 years old were equally assigned into four groups: a combined plant-based protein with resistance training (PBPEX), plant-based protein alone (PBP), resistance training alone (EX) and control (C). Mode of resistance training was flat barbell press, machine shoulder press, wide grip lateral pull-down, seated cable row, barbell back squat, leg press and leg extension. The 8-week resistance training involved three sets of 60-70% of one-repetition maximum (1-RM) at 4-6 repetition/set/mode per session, three sessions/week. Participants in PBPEX and PBP groups consumed a plant-based protein supplement consisted of 9.8 g soy and pea protein for seven days/week. Results: PBPEX showed significant increases (p<0.01) in the knee and shoulder flexion peak torque compared to EX groups, respectively. PBP showed a significantly higher level (p<0.05) of serum urea, and blood urea nitrogen (BUN) compared to other groups. There were no changes in immune function and bone metabolism markers between pre- and post-exercise in all groups. Conclusions: These findings implied that a combination of plant-based protein supplementation and resistance training elicited greater beneficial effects on muscular strength than resistance training alone and plant-based protein supplementation alone. Therefore, combined plant-based protein with resistance training may be recommended in planning exercise and nutritional programme for sedentary male adults.

The aim of this review was to document the recently reported prevalence and risk factors for chronic obstructive pulmonary disease (COPD) in the last ten years. A scoping review of studies released between 2011 and 2021 was done. The main findings on selected studies’ prevalence and risk factors were summarised. Thirty-seven studies in total were chosen. The overall data on COPD prevalence was 1.3-36.7%, and the average incidence rate was 9.1%. The risk factors of COPD prevalence were identified as unchangeable risk factors (gender, age, family history of respiratory and cardiovascular disease, high blood pressure, and environmental temperature and humidity) and changeable risk factors (outdoor and indoor air pollution, cigarette smoking, occupational exposure, low education, low household income, obesity, underweight, physical inactivity, and cooking method). The highest changeable risk factors were cigarette smoking, indoor air pollution, and occupational exposure. In contrast, the lowest changeable risk factors were physical inactivity and cooking methods. Changeable risk factors significantly increase COPD risks. The COPD caused by household emissions from biofuel cooking in low-income rural areas deserves attention. Emphasis on healthy lifestyle interventions and economic and educational policies to reduce environmental impacts may prevent COPD.