199,168 results match your criteria m4414t>c variant

Renal cell carcinomas with tubulopapillary architecture and oncocytic cells: Molecular analysis of 39 difficult tumors to classify.

Ann Diagn Pathol 2021 Mar 31;52:151734. Epub 2021 Mar 31.

Department of Pathology, Charles University in Prague, Faculty of Medicine in Plzeň, Pilsen, Czech Republic. Electronic address:

So-called oncocytic papillary renal cell carcinoma (OPRCC) is a poorly defined variant of papillary renal cell carcinoma. Since its first description, several studies were published with conflicting results, and thus precise definition is lacking. A cohort of 39 PRCCs composed of oncocytic cells were analyzed. Read More

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Solid variant of papillary thyroid carcinoma: An analysis of 28 cases with current literature.

Ann Diagn Pathol 2021 Mar 31;52:151737. Epub 2021 Mar 31.

Kocaeli University, Faculty of Medicine, Department of Endocrinology and Metabolism, Kocaeli, Turkey.

Introduction: Solid variant papillary thyroid cancer (SVPTC) is a rare variant of papillary thyroid carcinoma (PTC) and its prognostic value is still unclear. Therefore, we re-evaluate the histopathological and clinicopathological features of 28 patients with SVPTC in the light of current literature.

Material-methods: Of the 1308 cases were previously diagnosed with PTC and 28 (2,1%) of them which had been diagnosed with SVPTC were re-evaluated retrospectively. Read More

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Interferon-induced transmembrane protein-3 genetic variant rs12252 is associated with COVID-19 mortality.

Genomics 2021 Apr 7. Epub 2021 Apr 7.

Experimental Medicine Department, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia. Electronic address:

Interferon-induced membrane proteins (IFITM) 3 gene variants are known risk factor for severe viral diseases. We examined whether IFITM3 variant may underlie the heterogeneous clinical outcomes of SARS-CoV-2 infection-induced COVID-19 in large Arab population. We genotyped 880 Saudi patients; 93. Read More

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Association between VPS13C rs2414739 polymorphism and Parkinson's disease risk: A meta-analysis.

Neurosci Lett 2021 Apr 7:135879. Epub 2021 Apr 7.

Department of Neurology, Affiliated Hospital of Qingdao University, Qingdao, China. Electronic address:

Objective: We aimed to estimate the role of vacuolar protein sorting 13C (VPS13C) gene single nucleotide polymorphism (SNP) rs2414739 variant in the risk of PD by meta-analysis.

Methods: Five eligible case-control studies including 2796 PD cases and 4138 health controls involved in this meta-analysis. The fixed or random effect model was selected based on the heterogeneity of the included studies which detected by I and Q tests. Read More

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Endovascular treatment of persistent sciatic artery occlusion: case report and literature review.

Ann Vasc Surg 2021 Apr 7. Epub 2021 Apr 7.

Vascular Surgery, Department of Medicine and Surgery, University of Parma, Parma, Italy.

Persistent sciatic artery (PSA) is a rare congenital anatomic variant of the lower limb vascular system with highly variable presentations. The management of lower limb ischemia due to PSA disease is not specifically recommended in guidelines, and surgical by-pass is usually the most described treatment. We reported a case of a 46-year old patient with bilateral PSA and right chronic limb-threatening ischemia due to PSA occlusion at the PSA-popliteal junction which was successfully treated with percutaneous transluminal balloon angioplasty. Read More

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Genome-wide association study of serum metabolites in the African American Study of Kidney Disease and Hypertension.

Kidney Int 2021 Apr 7. Epub 2021 Apr 7.

Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore MD, USA; Welch Center for Prevention, Epidemiology, and Clinical Research, Johns Hopkins University, Baltimore MD, USA; Division of Nephrology, Department of Medicine, Johns Hopkins University, Baltimore MD, USA.

The genome-wide association study (GWAS) is a powerful means to study genetic determinants of disease traits and generate insights into disease pathophysiology. To date, few GWAS of circulating metabolite levels have been performed in African Americans with chronic kidney disease. Hypothesizing that novel genetic-metabolite associations may be identified in a unique population of African Americans with a lower glomerular filtration rate (GFR), we conducted a GWAS of 652 serum metabolites in 619 participants (mean measured glomerular filtration rate 45 mL/min/1. Read More

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Chronic active T cell-mediated rejection is variably responsive to immunosuppressive therapy.

Kidney Int 2021 Apr 7. Epub 2021 Apr 7.

Division of Nephrology, Department of Medicine, Comprehensive Transplant Center, Cedars-Sinai Medical Center, Los Angeles, CA 90048 USA.

Chronic active T cell-mediated rejection (CA TCMR) is a newly described variant of kidney allograft rejection associated with long-term graft loss. Whether this form of rejection is related to under immunosuppression is debated and the benefit of immunosuppressive therapy in CA TCMR is unknown. Here we investigate the amenability of CA TCMR to treatment and examine the impact of clinical, histologic, and molecular parameters on outcomes. Read More

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Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Case Series.

Am J Kidney Dis 2021 Apr 1. Epub 2021 Apr 1.

Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Medicine Department-Universitat Autónoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain. Electronic address:

Rationale & Objective: Alport syndrome (AS) is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS). Read More

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Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration.

Immun Inflamm Dis 2021 Apr 10. Epub 2021 Apr 10.

Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

Background: Immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), and autoimmune neutropenia (AIN) are disorders characterized by immune-mediated destruction of hematopoietic cell lineages. A link between pediatric immune cytopenias and inborn errors of immunity (IEI) was established in particular in the combined and chronic forms.

Objective: Aim of this study is to provide clinical-immunological parameters to hematologists useful for a prompt identification of children with immune cytopenias deserving a deeper immunological and genetic evaluation. Read More

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Surfactant cocamide monoethanolamide causes eye irritation by activating nociceptor TRPV1.

Br J Pharmacol 2021 Apr 10. Epub 2021 Apr 10.

State Key Laboratory of Natural Medicines and Department of TCM pharmacology, School of Traditional Pharmacy, China Pharmaceutical University, Nanjing, Jiangsu, China, 211198.

Background And Purpose: Cocamide monoethanolamide (CMEA) is commonly used as a surfactant-foam booster in cosmetic formulations. Upon contact with the eye or other sensitive skin areas, CMEA elicits sting and lasting irritation. We hypothesized a specific molecular interaction with TRPV1 by which CMEA caused eye irritation. Read More

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White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations.

Acta Neurol Belg 2021 Apr 10. Epub 2021 Apr 10.

Department of Medical Genetics, Duzce University Medical Faculty, Duzce, Turkey.

The purpose of this study is to reveal the effect on the clinical phenotype of variants detected at family examination of a case of combined pogo transposable element derived with zinc finger domain (POGZ) gene, tubulin folding cofactor E (TBCE) gene, and short stature homeobox (SHOX) gene variation. A Turkish non-consanguineous family consisting of five members was investigated. Whole exome sequence analysis and chromosomal microarray analysis (CMA) were performed for a 2-year-old male patient (the proband) with global developmental delay, hypotonia, dysmorphia, and hot water epilepsy. Read More

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Externally added cystatin C reduces growth of A375 melanoma cells by increasing cell cycle time.

FEBS Open Bio 2021 Apr 10. Epub 2021 Apr 10.

Division of Clinical Chemistry & Pharmacology, Department of Laboratory Medicine, Lund University, Lund, Sweden.

Some secreted cysteine protease inhibitors of the cystatin family appear to affect intracellular proteolysis and growth of human cells, as a result of internalization. Here, we studied the effects of external addition of the most abundant human cystatin, cystatin C, on viability and proliferation of cancer cells in culture. A dose-dependent decrease of viable cells was seen for A375 melanoma, MCF-7 breast cancer and PC-3 prostate cancer cells cultured in 1-5 μM cystatin C after 24 h. Read More

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Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.

Am J Med Genet A 2021 Apr 10. Epub 2021 Apr 10.

Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a genetically heterogeneous disorder caused by biallelic mutations in the SLC29A3, TNFRSF11A, TCIRG1, and CSF1R genes. To date, four dysosteosclerosis patients with SLC29A3 mutations have been reported. Read More

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HPV73 in cervical cancer and distribution of HPV73 variants in cervical dysplasia.

Int J Cancer 2021 Apr 9. Epub 2021 Apr 9.

Department of Medical Microbiology, Laboratory Medicine Region Skåne, Lund University, Lund, Sweden.

HPV73 is classified as possibly oncogenic and is not recognised by most commercial primary HPV screening platforms. The aim was to determine the prevalence of HPV73 among invasive cervical cancers, formalin fixed paraffin embedded (FFPE) samples (N = 69), from southern Sweden during 2009-2010. Another aim was to determine proportions of HPV73 among Aptima HPV assay negative cervical cancers (N = 9, out of 206 cancers), and of high grade cytological cervical diagnosis (N = 75, out of 5807 high grade lesions) in liquid based cytology (LBC) samples collected between 2016-2019. Read More

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A variant of Gyrodactylus mediotorus King, Marcogliese, Forest, McLaughlin and Bentzen, 2013 (Monogenea) identified from weed shiner (Notropis texanus) in Wisconsin portions of the upper Mississippi River.

Syst Parasitol 2021 Apr 9. Epub 2021 Apr 9.

, 83 Rhodenizer Lake Rd, Dayspring, NS, B4V 5R7, Canada.

Gyrodactylus mediotorus King, Marcogliese, Forest, McLaughlin and Bentzen, 2013, previously described from the spottail shiner Notropis hudsonius (Clinton) in the St. Lawrence River, Quebec, was identified from weed shiner Notropis texanus (Girard) in Wisconsin. The parasite was primarily observed to infect the fins and, to a lesser extent, the skin. Read More

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Variant constraint by mRNA vaccines.

Yvonne Bordon

Nat Rev Immunol 2021 Apr 9. Epub 2021 Apr 9.

Nature Reviews Immunology, .

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Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.

Eur J Hum Genet 2021 Apr 9. Epub 2021 Apr 9.

Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Genetic alterations in COL4A2 are less common than those of COL4A1 and their fetal phenotype has not been described to date. We describe a three-generation family with an intragenic deletion in COL4A2 associated with a prenatal diagnosis of recurrent fetal intracerebral hemorrhage (ICH), and a myriad of cerebrovascular manifestations. Exome sequencing, co-segregation analysis, and imaging studies were conducted on eight family members including two fetuses with antenatal ICH. Read More

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Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.

Mol Psychiatry 2021 Apr 9. Epub 2021 Apr 9.

Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.

Tourette's Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless, because of its polygenic nature and genetic heterogeneity, the genetic etiology of TD is not well understood. Read More

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APOE2 mitigates disease-related phenotypes in an isogenic hiPSC-based model of Alzheimer's disease.

Mol Psychiatry 2021 Apr 9. Epub 2021 Apr 9.

School of Biological and Health Systems Engineering, Arizona State University, Tempe, AZ, USA.

Genome-wide association studies (GWAS) have identified polymorphism in the Apolipoprotein E gene (APOE) to be the most prominent risk factor for Alzheimer's disease (AD). Compared to individuals homozygous for the APOE3 variant, individuals with the APOE4 variant have a significantly elevated risk of AD. On the other hand, longitudinal studies have shown that the presence of the APOE2 variant reduces the lifetime risk of developing AD by 40 percent. Read More

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Characterization of clostridium botulinum neurotoxin serotype A (BoNT/A) and fibroblast growth factor receptor interactions using novel receptor dimerization assay.

Sci Rep 2021 Apr 9;11(1):7832. Epub 2021 Apr 9.

Neurotoxin Research Program, Department of Biological Sciences, Allergan (an AbbVie Company) R&D, 2525 Dupont Dr., RD3-3B, Irvine, CA, 92612, USA.

Clostridium botulinum neurotoxin serotype A (BoNT/A) is a potent neurotoxin that serves as an effective therapeutic for several neuromuscular disorders via induction of temporary muscular paralysis. Specific binding and internalization of BoNT/A into neuronal cells is mediated by its binding domain (H/A), which binds to gangliosides, including GT1b, and protein cell surface receptors, including SV2. Previously, recombinant H/A was also shown to bind to FGFR3. Read More

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PIEZO1 mutation: a rare aetiology for fetal ascites.

BMJ Case Rep 2021 Apr 9;14(4). Epub 2021 Apr 9.

Maternal fetal Medicine, Trinity Health of New England, Hartford, Connecticut, USA.

We present a case of isolated fetal ascites diagnosed at 20 weeks' gestation. No aetiology was identified on extensive prenatal workup, including prenatal microarray. The patient terminated the pregnancy at 23 weeks' gestation. Read More

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Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.

Orphanet J Rare Dis 2021 Apr 9;16(1):166. Epub 2021 Apr 9.

Green Cross Genome, 107, Ihyeon-ro 30beon-gil, Giheung-gu, Yongin-si, Gyeonggi-do, 16924, Republic of Korea.

Background: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive facial features, genital abnormalities, and 2-3 syndactyly of the toes. SLOS is caused by defective 7-dehydrocholesterol reductase, which is encoded by the DHCR7 gene. This study aimed to analyze the carrier frequency and expected incidence of SLOS in East Asians and Koreans using exome data from the Genome Aggregation Database (gnomAD) through the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology guideline (2015 ACMG-AMP guideline). Read More

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Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.

BMC Ophthalmol 2021 Apr 9;21(1):168. Epub 2021 Apr 9.

Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Background: We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX.

Case Presentation: A 43-year-old female with bull's eye maculopathy, whose sister was diagnosed with Stargardt disease previously at another centre, was found to have a single ABCA4 variant. Further examination of the family revealed that the asymptomatic father was also affected, indicating a dominant pattern of inheritance. Read More

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Clinical characteristics and survival outcomes of malignant struma ovarii confined to the ovary.

BMC Cancer 2021 Apr 9;21(1):383. Epub 2021 Apr 9.

Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China.

Background: Malignant struma ovarii (MSO) is a unique type of ovarian malignancy that data on the survival outcome is limited and management strategy remains controversial due to its extreme rarity.

Methods: To investigate the clinical characteristics and treatment options in patients with MSO confined to the ovary, while also evaluating the recurrent-free survival (RFS) and overall survival (OS) rate in this population, a retrospective study was conducted. One hundred twenty-five cases of MSO confined to the ovary were enrolled and their clinical characteristics, treatment strategies, and results of follow-up were analyzed. Read More

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A multispecies outbreak of carbapenem-resistant bacteria harboring the bla gene in a non-classical transposon element.

BMC Microbiol 2021 Apr 9;21(1):107. Epub 2021 Apr 9.

Laboratory of Microbiology, Department of Clinical Laboratories, Centro Médico San Joaquín, Escuela de Medicina, Pontificia Universidad Católica de Chile, 3rd floor, Vicuña Mackenna, 4686, Santiago, Chile.

Background: Klebsiella pneumoniae is the most frequent KPC-producing bacteria. The bla gene is frequently embedded in Tn4401 transposon, and less frequently in non-Tn4401 elements (NTE) variants I-III. The first case of KPC in the UC-CHRISTUS Clinical Hospital was detected in Pseudomonas aeruginosa. Read More

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Cannabidiol inhibits the skeletal muscle Nav1.4 by blocking its pore and by altering membrane elasticity.

J Gen Physiol 2021 May;153(5)

Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC, Canada.

Cannabidiol (CBD) is the primary nonpsychotropic phytocannabinoid found in Cannabis sativa, which has been proposed to be therapeutic against many conditions, including muscle spasms. Among its putative targets are voltage-gated sodium channels (Navs), which have been implicated in many conditions. We investigated the effects of CBD on Nav1. Read More

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A hybrid method for real-time stimulation artefact removal during functional electrical stimulation with time-variant parameters.

J Neural Eng 2021 Apr 9. Epub 2021 Apr 9.

Institute of RF- and OE-ICs, Southeast University, No.2, Sipai Lou, Dashiqiao community, Xinjiekou Street, Xuanwu District, Nanjing, Nanjing, Jiangsu, 210096, CHINA.

Objective: In this study, a hybrid method combining hardware and software architecture is proposed to remove stimulation artefacts (SA) and extract the volitional surface electromyography (sEMG) in real time during functional electrical stimulations (FES) with time-variant parameters.

Approach: First, an sEMG detection front end (DFE) combining fast recovery, detector and stimulator isolation and blanking is developed and is capable of preventing DFE saturation with a blanking time of 7.6 ms. Read More

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Ataxia telangiectasia mutated germline pathogenic variant in adrenocortical carcinoma.

Cancer Genet 2021 Mar 24;256-257:21-25. Epub 2021 Mar 24.

Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States; Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, United States. Electronic address:

Background: Adrenocortical carcinoma (ACC) is a rare malignancy arising from the adrenal cortex. ACC carries a dismal prognosis and surgery offers the only chance for a cure. Germline pathogenic variants among certain oncogenes have been implicated in ACC. Read More

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Implementation of an in-house real-time reverse transcription-PCR assay for the rapid detection of the SARS-CoV-2 Marseille-4 variant.

J Clin Virol 2021 Mar 31;139:104814. Epub 2021 Mar 31.

IHU Méditerranée Infection, 19-21 Boulevard Jean Moulin, 13005, Marseille, France; Aix-Marseille Univ., Institut de Recherche pour le Développement (IRD), Assistance Publique - Hôpitaux de Marseille (AP-HM), Microbes Evolution Phylogeny and Infections (MEPHI), 27 Boulevard Jean Moulin, 13005, Marseille, France. Electronic address:

Introduction: The SARS-CoV-2 pandemic has been associated with the occurrence since summer 2020 of several viral variants that overlapped or succeeded each other in time. Those of current concern harbor mutations within the spike receptor binding domain (RBD) that may be associated with viral escape to immune responses. In our geographical area a viral variant we named Marseille-4 harbors a S477 N substitution in this RBD. Read More

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Beyond language impairment: Profiles of apathy in primary progressive aphasia.

Cortex 2021 Mar 16;139:73-85. Epub 2021 Mar 16.

The University of Sydney, Brain & Mind Centre, Sydney, NSW, Australia; The University of Sydney, School of Psychology, Sydney, NSW, Australia. Electronic address:

Primary progressive aphasia (PPA) is characterised by predominant language and communication impairment. However, behavioural changes, such as apathy, are increasingly recognised. Apathy is defined as a reduction in motivation and goal-directed behaviour. Read More

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