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This article reported a male neonate with Smith-Lemli-Opitz syndrome (SLOS) caused by DHCR7 gene compound heterozygous variations. The patient presented with multiple malformations and feeding difficulties after birth and was transferred to the First Affiliated Hospital of Hunan Normal University (Hunan Provincial People's Hospital) from a local hospital eight days later. Physical examination found general scleredema, scalp defects, short penis, urinary tract malformation, bilateral syndactyly of the second and third toes, and low serum cholesterol. Whole-exome and Sanger sequencing indicated a compound heterozygous mutation in the DHCR7 gene, c.852C>A(p.F284L), and a de novo mutation of c.820_825del(p.N274_V275del). SLOS is rare in the Asian populations and prone to missed diagnosis and misdiagnosis with difficulty in clinical management. The possibility of SLOS should be considered for newborns with multiple malformations and low serum cholesterol.
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This article reported a case of nemaline myopathy caused by KLHL40 gene complex heterozygous mutations. This baby girl presented with shortness of breath, low myodynamia, and low muscle tension immediately after birth. However, her symptoms became worse after conventional treatment. Physical examination found lower muscle strength and muscle tone in four limbs and no primitive reflexes. The biochemistry test showed increased serum creatine kinase (CK). A muscle biopsy was not performed. The second-generation gene test confirmed the KLHL40 gene complex heterozygous mutations, which was a known mutation c.932G>T (p.R311L) and a de novo mutation c.1487T>A (p.M496K), inherited from the father and mother, respectively. Nemaline myopathy is a rare congenital muscular disease characterized by nemaline bodies in muscle fibers. Pathological and genetic diagnoses are the gold standards for the diagnosis of this disease.
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Researches have demonstrated that gradually increased morbidity and mortality of cardiovascular disease may be related to vitamin D deficiency.But there are few randomized controlled studies about preventing cardiovas-cular events via vitamin D supplementation.This article summarizes investigate progress for related matter recently.
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Patients receiving long-term anticoagulation therapy of vitamin K antagonist (VKA)may face risk of bleeding when receive surgery or invasive operation,and perioperative interruption of VKA may increase risk of thromboembolism.Bridging anticoagulation therapy with therapeutic dose of heparin group drugs may avoid throm-boembolic events induced by temporary interruption of VKA therapy during perioperative period.This article made a relative discussion.
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Atrial fibrillation (AF)is a strong risk factor for ischemic cerebral stroke.Some inherent defects of War-farin limit its clinic application,which accelerates research and development of new oral anticoagulants,such as Dabigatran,Apixaban,Rivaroxaban and Edoxaban etc..This article made an overview for these.