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: Physician specialties
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.
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…
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.
Comparative evaluation between external jugular and internal jugular venous catheterization through landmark technique by Hitesh Khanna
CONCLUSION: Anaesthetists should rethink alternate routes for the insertion of central vein cannulation. The external jugular cannulation route is one of them.
Targeted therapies in advanced biliary tract cancers-a narrative review by Michael LaPelusa
CONCLUSIONS: Targeted agents can improve survival in patients with advanced BTCs and have substantially increased the number of potential therapeutic options in patients with refractory disease. The therapeutic landscape of targeted therapies for patients with advanced BTCs continues to evolve based on improvements in detection of genomic alterations.
A critical review of methotrexate clinical interactions: role of transporters by Fatemeh Jafari
INTRODUCTION: Methotrexate (MTX) is an anti-folate and immunosuppressive drug prescribed for various malignancies and immune diseases. However, delayed elimination of MTX associated with concomitant use of some medications can lead to severe and life-threatening adverse effects.
Clinical features of children with coronavirus disease 2019 caused by Delta variant infection in different age groups by Hang Su
CONCLUSIONS: The clinical features of COVID-19 caused by Delta variant infection in children of different age groups may be different: children aged
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…
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