When a de novo balanced reciprocal translocation is identified in the patient, the cause of phenotype of the patient can be explained by detecting the breakpoints of the genes. Here, we report a 3-year-old patient with developmental delay, autism spectrum disorder, and distinctive facial features who had an apparently balanced translocation between chromosome 3q26 and…
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Category: Medical genetics
Impact of body mass index on peripheral and uterine immune status in the window of implantation in patients with recurrent reproductive failure by ShuYi Yu
This study aimed to investigate whether maternal obesity affects the immune status of peripheral blood and endometrium in patients with recurrent reproductive failure classified according to their body mass index (BMI). A total of 228 repeated implantation failure (RIF) and 266 recurrent miscarriage (RM) patients were enrolled in the study and further subdivided into three…
Genetic analyses of chr11p15.5 region identify MUC5AC–MUC5B associated with asthma-related phenotypes by Xingnan Li
Objective: Genome-wide association studies (GWASs) have identified single nucleotide polymorphisms (SNPs) in chr11p15.5 region associated with asthma and idiopathic interstitial pneumonias (IIPs). We sought to identify functional genes for asthma by combining SNPs and mRNA expression in bronchial epithelial cells (BEC) in the Severe Asthma Research Program (SARP). Methods: Correlation analyses of mRNA expression of…
Clinical diagnostic techniques for rare genetic diseases in children: current status, advances, and thoughts by Jin-Yue Huang
Rare diseases refer to a group of single diseases with low incidence rates, complex pathogeneses, severe disease conditions, and rapid progression. Most rare diseases have a genetic background and may occur in childhood. Paying attention to the rare genetic diseases in children and performing early diagnosis and treatment can effectively delay the course of disease…
Metastatic pheochromocytoma and paraganglioma: Somatostatin receptor 2 expression, genetics and therapeutic responses by Alessa Fischer
CONCLUSIONS: SSTR2 expression was independently associated with SDHB/SDHx mutations and metastatic disease. We confirm a high disease control rate of somatostatin receptor-based therapies in metastatic PPGLs.
FTO – a critical role in obesity and obesity related diseases by Dan Yin
In recent years, obesity is a growing pandemic in the world and has likely contributed to increasing the incidence of obesity related diseases. Fat mass and obesity associated gene (FTO) is the first gene discovered which has close connection with fat. Recent studies suggested FTO gene has played an important role in the molecular mechanisms…
Human T cell generation is restored in CD3δ severe combined immunodeficiency through adenine base editing by Grace E McAuley
CD3δ SCID is a devastating inborn error of immunity caused by mutations in CD3D, encoding the invariant CD3δ chain of the CD3/TCR complex necessary for normal thymopoiesis. We demonstrate an adenine base editing (ABE) strategy to restore CD3δ in autologous hematopoietic stem and progenitor cells (HSPCs). Delivery of mRNA encoding a laboratory-evolved ABE and guide…
Chitosan/silk fibroin/nitrogen-doped carbon quantum dot/α-tricalcium phosphate nanocomposite electrospinned as a scaffold for wound healing application: In vitro and in vivo studies by Niloofar Dehghani
A highly porous nanofibrous network that can functionalize antibacterial and therapeutic agents can be considered a suitable option for skin wound healing. In this study, α-tricalcium phosphate (α-TCP)/nitrogen-doped carbon quantum dots (N-CQDs) nanocomposite was synthesized and then applied to the fabrication of novel chitosan (CS)/silk fibroin (SF)/N-CQDs/α-TCP wound dressing via electrospinning system. The prepared nanomaterials…
Trichoscopy Pattern and Evaluation of Serum Vitamin D Status in Alopecia Areata by Adel Alsenaid
CONCLUSIONS: VDL was significantly lower in severe AA and active progressive disease. Trichoscopic features could predict disease activity and VDL in patients with AA. Broken and tapering hairs will be more represented in patients with progressive disease. Short vellus hairs were seen more in stable or remitting disease. Furthermore, black dots and broken hairs were…
Lack of structural brain alterations associated with insomnia: findings from the ENIGMA-Sleep Working Group by Antoine Weihs
Existing neuroimaging studies have reported divergent structural alterations in insomnia disorder (ID). In the present study, we performed a large-scale coordinated meta-analysis by pooling structural brain measures from 1085 subjects (mean [SD] age 50.5 [13.9] years, 50.2% female, 17.4% with insomnia) across three international Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA)-Sleep cohorts. Two sites recruited patients…
Morphometric analysis of clinically significant parameters of the main trunk of the left coronary artery by Almira Lujinović
Aim To determine the value of angles between the left coronary artery main trunk (LMT) and its branches, the anterior interventricular branch (LAD) and the circumflex branch (CX), and their possible relationship with the LMT length. Methods A total of 29 cadaveric hearts were used. The left coronary artery and its branches were dissected. The…
Molecular-genetics analysis of 15 STR loci in sibship testing in isolated rural Bosnian population – the use of the grey zone by Jasmin Mušanović
Aim Examination of the effectiveness of STR loci in proving sibship of the Bosnian-Herzegovinian village of Orahovica and the formation of a “grey zone”. Methods The probability of sibship was determined by calculating the likelihood ratio (LR) parameter for each of the 15 observed STR loci and for each of the pairs of relatives and…
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