Background Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by skin fragility leading to trauma‐induced subepidermal blisters and healing with scarring. DEB is caused by mutations in COL7A1, the gene encoding for type VII collagen (COLVII). The DEB inheritance trait is divided into dominant dystrophic epidermolysis bullosa (DDEB) and recessive dystrophic epidermolysis bullosa (RDEB). Methods Whole‐exome sequencing (WES) was performed for identifying mutations in six affected individuals of five Vietnamese families. Results Three novel variants in total of eight variants were found in five families. The first novel variant causing glycine substitution (c.8279G>A, p.G2760E), the remaining two novel variants resulted in splice site affecting (c.4518+2delT and c.5821‐2A>G). Functional analysis indicated that the splice site at c.4518+2delT resulted in a skipping of exon 43, leading to an in‐frame deletion of 12 amino acids. Conclusion Our finding expands the spectrum of COL7A1 mutations and reports altered splicing at c.4518+2delT during the processing of the pre‐mRNA. This study provides an additional scientific basis for diagnosis, genetic counseling, and prognosis purposes of EB patients.

Trisomy 9 syndrome and other related abnormalities such as full or mosaic trisomy 9 are very rare human chromosomal disorders. The disorders cause early pregnancy loss or death within 20 days after the birth which is accompanied by complex birth defects. The case reported here is a 26-year-old female, identified with partial trisomy of chromosome 9 by Array comparative genomic hybridization -aCGH, but has a longer life than reported in the medical literature and can give birth. The patient did not have abnormal mental or motor problems; no morphological ultrasound abnormalities; curved thumb and scattered warts on the left hand; gave birth to a healthy son after three consecutive stillbirths. The report has shown diverse clinical manifestations of trisomy 9 mosaic abnormalities in humans, contributing to a rare data source of trisomy 9 mosaic cases. Since then, improve knowledge of genetic counseling for rare cases of trisomy 9 mosaicism, especially in genetic counseling of prenatal diagnosis.

To date, lung cancer is one of the most well-understood cancers in terms of molecular mechanisms, with high incidence and mortality rates in the population. Detecting lung cancer-related gene mutations plays a vital role in offering targeted therapy, thereby improving the progression-free survival and overall survival rates of patients. This study aims to identify some clinical features and factors related to non-small cell lung cancer and detect some types of gene mutations related to non-small cell lung cancer by new-generation sequencing techniques on biopsy tissue samples of patients. 40 patients with non-small cell lung cancer who were tested to detect gene mutations in biopsy tissue samples by next-generation sequencing. Results showed the majority of patients were male (70%), over 60 years old (65%), in the late stage (100%), and have not received any treatment (85%). 26/40 patients have detected mutations, in which mutations are most frequently in EGFR (27.5%) and KRAS (20.0%), followed by ALK (12.5%), BRAF (5.0%), did not detect mutations on NRAS, ROS1, and PIK3CA. The rate of mutations related to the target drug susceptibility was quite high, no resistant mutants were detected.

Mở đầu: Lợi ích của sữa mẹ đã được chứng minh là an toàn, đầy đủ chất dinh dưỡng, dễ hấp thu và tiêu hóa, cung cấp kháng thể cho trẻ và phòng ngừa bệnh tật cho mẹ. Theo UNICEF (2013), hằng năm khoảng 1,3 triệu trẻ tử vong vì không được nuôi con bằng sữa mẹ trong 6 tháng đầu. Mục tiêu: 1)Xác định tỷ lệ cho con bú sau sinh; 2) Đánh giá kiến thức, thái độ và thực hành cho con bú ở các bà mẹ sinh ngã âm đạo tại Khoa Hậu Sản – Bệnh viện Hùng Vương. Phương pháp: Nghiên cứu mô tả cắt ngang kết hợp phỏng vấn và quan sát bằng bảng kiểm trên 1771 bà mẹ. Kết quả: Độ tuổi trung bình của các bà mẹ là 27,69 (SD=4,96). Tỉ lệ chung có cho bú mẹ sau sinh là 100%. Có 56,63 % các bà mẹ cho con bú trong vòng 1 giờ sau sinh và bú sữa mẹ hoàn toàn sau sinh trong thời gian ở bệnh viện là 28,46%. Tỉ lệ bà mẹ có kiến thức khá chiếm tỉ lệ 75,15%. Tỉ lệ về thái độ tích cực NCBSM là 38,74%. Tỉ lệ thực hành nuôi con bằng sữa mẹ đạt tỉ lệ khá 51,1%. Kết luận: Mặc dù tỷ lệ các bà mẹ có kiến thức tương đối cao, tuy nhiên tỷ lệ các bà mẹ thực hành cho con bú sau sinh sớm trong 1 giờ đầu, bú mẹ hoàn toàn trong thời gian nằm bệnh viện, thực hành nuôi con bằng sữa mẹ đúng và thái độ tích cực cho con bú mẹ còn thấp. Kiến nghị: Cần tăng cường hướng dẫn và tư vấn cho các bà mẹ về lợi ích và phương pháp nuôi con bằng sữa mẹ trong thời gian hậu sản tại Bệnh viện.    

Chromosomal mosaicism in prenatal diagnosis is a complex problem that confuses the perception of true mosaicism or pseudomosaicismand often causes difficulties in genetic counseling. In this study, the authors reported 5 cases of chromosomal mosaicism in prenatal karyotype diagnosisand compared them withthe corresponding karyotype results of children after birth. Amniotic fluid and peripheral blood cells were prepared chromosomal metaphase by culture method and chromosomal analysis according to ISCN 2016 standards. Samples were collected and analysed at Hanoi Medical University Hospital from 2017 to 2020. There were 3 cases of abnormal prenatal chromosomal mosaicism, but the postnatal results were normal, two cases of abnormal prenatal chromosome mosaicism, but had abnormal peripheral blood postnatal chromosome results. These results, together with discussion, will provide more valuable information for the prognosis of chromosome mosaicism cases in prenatal diagnosis and give better genetic counseling for the patients.