88,324 results match your criteria Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type


Defective repair capacity of variant proteins of the DNA glycosylase NTHL1 for 5-hydroxyuracil, an oxidation product of cytosine.

Free Radic Biol Med 2018 Dec 12. Epub 2018 Dec 12.

Department of Tumor Pathology, Hamamatsu University School of Medicine, Hamamatsu, Japan.

The NTHL1 gene encodes DNA glycosylase, which is involved in base excision repair, and biallelic mutations of this gene result in NTHL1-associated polyposis (NAP), a hereditary disease characterized by colorectal polyposis and multiple types of carcinomas. However, no proper functional characterization of variant NTHL1 proteins has been done so far. Herein, we report functional evaluation of variant NTHL1 proteins to aid in the accurate diagnosis of NAP. Read More

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December 2018

Hereditary breast cancer; Genetic penetrance and current status with BRCA.

J Cell Physiol 2018 Dec 14. Epub 2018 Dec 14.

School of Medicine, Menzies Health Institute Queensland, Gold Coast, QLD.

The most important cause of developing hereditary breast cancer is germline mutations occurring in breast cancer (BCs) susceptibility genes, for example, BRCA1, BRCA2, TP53, CHEK2, PTEN, ATM, and PPM1D. Many BC susceptibility genes can be grouped into two classes, high- and low-penetrance genes, each of which interact with multiple genes and environmental factors. However, the penetrance of genes can also be represented by a spectrum, which ranges between high and low. Read More

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December 2018

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.

Breast Cancer Res Treat 2018 Dec 14. Epub 2018 Dec 14.

Oncogenetics Group, Vall d'Hebron Institute of Oncology, VHIO, 08035, Barcelona, Spain.

Purpose: Disruption of splicing motifs by genetic variants can affect the correct generation of mature mRNA molecules leading to aberrant transcripts. In some cases, variants may alter the physiological transcription profile composed of several transcripts, and an accurate in vitro evaluation is crucial to establish their pathogenicity. In this study, we have characterized a novel PALB2 variant c. Read More

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December 2018

Development of transgenic Caenorhabditis elegans expressing human transthyretin as a model for drug screening.

Sci Rep 2018 Dec 14;8(1):17884. Epub 2018 Dec 14.

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556, Japan.

Familial amyloid polyneuropathy is a hereditary systemic amyloidosis caused by a mutation in the transthyretin (TTR) gene. Amyloid deposits in tissues of patients contain not only full-length TTR but also C-terminal TTR fragments. However, in vivo models to evaluate the pathogenicity of TTR fragments have not yet been developed. Read More

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December 2018

Acute Pancreatitis Caused by Ampullary Duodenum Adenoma in a Patient with Adenomatous Polyposis Coli with Billroth II Reconstruction After Distal Gastrectomy.

Am J Case Rep 2018 Dec 15;19:1495-1498. Epub 2018 Dec 15.

Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan.

BACKGROUND Adenomatous polyposis coli is an autosomal dominant hereditary disorder. Duodenal adenocarcinoma and adenoma, which are extracolonic lesions, not only affect the prognosis of patients but also cause acute pancreatitis. CASE REPORT We present the case of a 73-year-old male. Read More

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December 2018

Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers.

Eur J Cancer 2018 Dec 11;107:68-78. Epub 2018 Dec 11.

Department of Genetics, Cell Biology and Anatomy, College of Medicine, USA; Cancer Centre and Institute of Translational Medicine, Faculty of Health Sciences, University of Macau, Taipa, Macau, SAR, China. Electronic address:

Purpose: The presence of pathogenic germline mutation in BRCA1 gene is considered as the most penetrant genetic predisposition for breast cancer. However, a portion of BRCA1 mutation carriers never develops breast cancer throughout their lifetime. This phenomenon is called incomplete penetrance. Read More

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December 2018

Survival and outcome in MELAS not only depends on onset and disease duration.

J Neurol Sci 2018 Dec 6;397:9-10. Epub 2018 Dec 6.

University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.

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December 2018

Development of a Health-Related Quality of Life (QoL) instrument for Patients with Hereditary Angioedema (HAE) living in the United States.

J Allergy Clin Immunol Pract 2018 Dec 11. Epub 2018 Dec 11.

Division of Rheumatology, Allergy and Immunology, Department of Medicine, University of California San Diego, La Jolla, CA.

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December 2018

Comparative Flavivirus-Host Protein Interaction Mapping Reveals Mechanisms of Dengue and Zika Virus Pathogenesis.

Cell 2018 Dec;175(7):1931-1945.e18

Department of Cellular and Molecular Pharmacology, University of California San Francisco, San Francisco, CA, USA; Quantitative Biosciences Institute (QBI), University of California San Francisco, San Francisco, CA, USA; The J. David Gladstone Institutes, San Francisco, CA, USA. Electronic address:

Mosquito-borne flaviviruses, including dengue virus (DENV) and Zika virus (ZIKV), are a growing public health concern. Systems-level analysis of how flaviviruses hijack cellular processes through virus-host protein-protein interactions (PPIs) provides information about their replication and pathogenic mechanisms. We used affinity purification-mass spectrometry (AP-MS) to compare flavivirus-host interactions for two viruses (DENV and ZIKV) in two hosts (human and mosquito). Read More

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December 2018

Drp1/Fis1-mediated mitochondrial fragmentation leads to lysosomal dysfunction in cardiac models of Huntington's disease.

J Mol Cell Cardiol 2018 Dec 11. Epub 2018 Dec 11.

Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA, United States. Electronic address:

Huntington's disease (HD) is a fatal hereditary neurodegenerative disorder, best known for its clinical triad of progressive motor impairment, cognitive deficits and psychiatric disturbances, is caused by CAG-repeat expansion in exon 1 of Huntingtin (HTT). However, in addition to the neurological disease, mutant HTT (mHTT), which is ubiquitously expressed in all tissues, impairs other organ systems. Not surprisingly, cardiovascular dysautonomia as well as the deterioration of circadian rhythms are among the earliest detectable pathophysiological changes in individuals with HD. Read More

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December 2018

Recurrence of hereditary hemorrhagic telangiectasia after liver transplantation: clinical implications and physiopathological insights.

Hepatology 2018 Dec 14. Epub 2018 Dec 14.

Gustave Roussy Cancer Campus, Département de Biologie et Pathologie Médicales, Service de Pathologie Moléculaire, Villejuif.

Liver transplantation (LT) has been proposed as a curative treatment in hereditary hemorrhagic telangiectasia (HHT) with severe hepatic involvement. We provide a long-term evaluation of graft status after LT for HHT, with a focus on the risk of recurrence. The present study included all patients prospectively followed-up after LT for HHT in the Lyon liver transplant unit from 1993 to 2010, with a survival of more than 1 year. Read More

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December 2018

Improvement of hereditary palmoplantar keratoderma with oral trametinib.

Pediatr Dermatol 2018 Dec 12. Epub 2018 Dec 12.

Dermatology Program, Boston Children's Hospital, Boston, Massachusetts.

We report a child with a past medical history notable for congenital deafness, palmoplantar keratoderma (PPK), and hypothalamic glioma who initiated a MEK inhibitor trametinib for cancer-directed therapy at 11 years of age and was incidentally noted to have marked improvement in his PPK. Trametinib withdrawal led to worsening in the patient's PPK. We speculate that the patient's PPK improved because of trametinib, given the temporal relationship between trametinib therapy and PPK severity, observed both after introduction and withdrawal of trametinib therapy. Read More

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December 2018

Genetic variants in DNMT1 and the risk of cardiac autonomic neuropathy in females with Type 1 diabetes.

J Diabetes Investig 2018 Dec 11. Epub 2018 Dec 11.

Laboratório de Carboidratos e Radioimunoensaio LIM-18, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR. Av. Dr. Arnaldo, 455São Paulo, SP, BR.

Aims/introduction: Epigenetics participate in the pathogenesis of metabolic memory, a situation in which hyperglycemia exerts prolonged deleterious effects even after its normalization. We tested the hypothesis that genetic variants in an epigenetic gene could predispose to diabetes complications.

Material And Methods: We assessed the frequency of 5 single nucleotide polymorphisms (SNPs) in the gene encoding DNA methytransferase 1 (DNMT1; rs8112895, rs7254567, rs11085721, rs17291414, and rs10854076) and their associations with diabetic kidney disease, retinopathy, distal polyneuropathy and autonomic cardiovascular neuropathy (CAN) in 359 long-term Type 1 diabetes individuals. Read More

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December 2018

Eosin-5'-maleimide binding test-Do we use appropriate reference values to detect hereditary spherocytosis in neonates?

Int J Lab Hematol 2018 Dec 10. Epub 2018 Dec 10.

Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, Warsaw, Poland.

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December 2018

TP53 somatic mutations are associated with somatic mitogenome substitutions but not indels in colorectal cancer cells.

J Gene Med 2018 Dec 10:e3063. Epub 2018 Dec 10.

Division of Molecular and Forensic Genetics, Department of Forensic Medicine, Faculty of Medicine, Nicolaus Copernicus University, Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.

Background: p53 is a tumour suppressor protein that is involved in many cancer-related processes. Growing evidence suggests that p53 also plays an important role in mtDNA maintenance. Somatic mitogenome mutations are frequently observed in colorectal cancer cells. Read More

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December 2018

Different outcomes in sporadic versus familial medullary thyroid cancer.

Head Neck 2018 Dec 11. Epub 2018 Dec 11.

Endocrine Unit, Department of Clinical Therapeutics, School of Medicine, National Kapodistrian University of Athens, Alexandra Hospital, Athens, Greece.

Background: Medullary thyroid carcinoma (MTC) has varying clinical course with familial cases (fMTC) diagnosed earlier than sporadic MTC (spMTC).

Methods: A total of 273 MTCs (familial: n = 110 [40.3%], males: 38. Read More

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December 2018
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Comorbidity among HHT patients and their controls in a 20 years follow-up period.

Orphanet J Rare Dis 2018 Dec 14;13(1):223. Epub 2018 Dec 14.

Odense Patient data Explorative Network (OPEN), Odense University Hospital/Department of Clinical Research, University of Southern Denmark, Odense, Denmark.

Background: Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant genetic disorder with a wide variety of clinical manifestations due to the presence of multiple arteriovenous malformations in various tissues and organs.

Objective: To study the need for hospital admittance in a group of HHT patients and matched controls during a 20 years follow-up period commencing in 1995.

Methods: All HHT patients in the County of Funen, Denmark, were included. Read More

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December 2018

A Life-Saving Palsy: Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Presenting As Hand Weakness during Cardiopulmonary Resuscitation (CPR) Training

Ir Med J 2018 09 10;111(8):808. Epub 2018 Sep 10.

Department of Clinical Neurophysiology, St. Vincent’s University Hospital, Elm Park, Dublin 4, Ireland.

Aim To describe a case of acute and transient hand weakness that developed during cardiopulmonary resuscitation (CPR) training. Hereditary neuropathy with liability to pressure palsies (HNPP) should be considered in patients with recurrent, painless motor or sensory neuropathies at sites of peripheral nerve compression. Methods Nerve conduction studies confirmed neuropraxia of the distal ulnar nerve with a mild background demyelinating peripheral neuropathy. Read More

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September 2018

Early Hereditary Diffuse Gastric Cancer (eHDGC) is Characterized by Subtle Genomic Instability and Active DNA Damage Response.

Pathol Oncol Res 2018 Dec 13. Epub 2018 Dec 13.

Division of Biomedical Science and Biochemistry, Research School of Biology, ANU College of Medicine, Biology and Environment, Australian National University, P.O. Box: 2601, Canberra, Australia.

Diffuse gastric cancer (DGC) is one of the two primary types of stomach cancer. Carriers of germline mutations in the gene encoding E-cadherin are predisposed to DGC. The primary aim of the present study was to determine if genomic instability is an early event in DGC and how it may lead to disease progression. Read More

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December 2018
2 Reads
1.806 Impact Factor

Immunoprofiles of colorectal cancer from Lynch syndrome.

Oncoimmunology 2019 26;8(1):e1515612. Epub 2018 Sep 26.

The Danish HNPCC Register, Clinical Research Centre, Copenhagen University Hospital, Hvidovre Hospital, Hvidovre, Denmark.

Colorectal cancers associated with Lynch syndrome are characterized by defective mismatch repair, microsatellite instability, high mutation rates, and a highly immunogenic environment. These features define a subset of cancer with a favorable prognosis and high likelihood to respond to treatment with anti-programmed death 1 (PD-1)/programmed death ligand 1 (PD-L1) drugs. With the aim to define immune-evasive mechanisms and a potential impact hereof in colorectal cancers from Lynch syndrome hereditary cases with retained mismatch repair function, we immunohistochemically and transcriptionally profiled 270 tumors. Read More

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September 2018
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Downregulation of Neuronal and Dendritic Connexin36-Made Electrical Synapses Without Glutamatergic Axon Terminals in Spinal Anterior Horn Cells From the Early Stage of Amyotrophic Lateral Sclerosis.

Front Neurosci 2018 28;12:894. Epub 2018 Nov 28.

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Connexin36 (Cx36) forms gap junctions between neurons, which are called electrical synapses, enabling adjacent neurons to communicate directly. The participation of chemical synapses in neurodegeneration in amyotrophic lateral sclerosis (ALS) has long been indicated, but it remains unclear whether electrical synapses are involved in the pathogenesis of ALS. We performed extensive immunopathological analyses using mutant superoxide dismutase 1 (SOD1) transgenic mice and their littermates to investigate whether Cx36-made electrical synapses are affected in motor neuron diseases. Read More

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November 2018
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Somatic and germline genomics in paediatric acute lymphoblastic leukaemia.

Nat Rev Clin Oncol 2018 Dec 13. Epub 2018 Dec 13.

Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.

Advances in genomic research and risk-directed therapy have led to improvements in the long-term survival and quality of life outcomes of patients with childhood acute lymphoblastic leukaemia (ALL). The application of next-generation sequencing technologies, especially transcriptome sequencing, has resulted in the identification of novel molecular subtypes of ALL with prognostic and therapeutic implications, as well as cooperative mutations that account for much of the heterogeneity in clinical responses observed among patients with specific ALL subtypes. In addition, germline genetic variants have been shown to influence the risk of developing ALL and/or the responses of non-malignant and leukaemia cells to therapy; shared pathways for drug activation and metabolism are implicated in treatment-related toxicity and drug sensitivity or resistance, depending on whether the genetic changes are germline, somatic or both. Read More

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December 2018
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Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas.

Molecules 2018 Dec 11;23(12). Epub 2018 Dec 11.

Department of Medical Genetics and Rare Orthopaedic Diseases & CLIBI Laboratory-IRCCS, Istituto Ortopedico Rizzoli, V. di Barbiano 1/10, 40136 Bologna, Italy.

Multiple osteochondromas (MO) is a hereditary disorder associated with benign cartilaginous tumors, known to be characterized by absence or highly reduced amount of heparan sulfate (HS) in the extracellular matrix of growth plate cartilage, which alters proper signaling networks leading to improper bone growth. Although recent studies demonstrated accumulation of HS in the cytoplasm of MO chondrocytes, nothing is known on the structural alterations which prevent HS from undergoing its physiologic pathway. In this work, osteochondroma (OC), peripheral chondrosarcoma, and healthy cartilaginous human samples were processed following a procedure previously set up to structurally characterize and compare HS from pathologic and physiologic conditions, and to examine the phenotypic differences that arise in the presence of either exostosin 1 or 2 ( or ) mutations. Read More

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December 2018

PROS1 IVS10+5G>A mutation causes hereditary protein S deficiency in a Chinese patient with pulmonary embolism and venous thromboembolism.

Thromb Res 2018 Dec 6;174:1-4. Epub 2018 Dec 6.

Division of Vascular Surgery, Hepatic Surgery Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. Electronic address:

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December 2018

Microsatellite instability in colorectal cancer: overview of its clinical significance and novel perspectives.

Clin Adv Hematol Oncol 2018 Nov;16(11):735-745

Levine Cancer Institute of the Carolinas HealthCare System, Charlotte, North Carolina.

Microsatellite instability (MSI) is a key biomarker in colorectal cancer (CRC), with crucial diagnostic, prognostic, and predictive implications. Testing for mismatch repair deficiency (MMR-D)/MSI is recommended during screening for Lynch syndrome, an autosomal-dominant hereditary disease that is characterized by germline mutations in the MMR genes and associated with an increased risk for several types of cancer. Additionally, MSI-high (MSI-H) status is associated with a better prognosis in early-stage CRC and a lack of benefit from adjuvant treatment with 5-fluorouracil in stage II disease. Read More

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November 2018

Next Generation Sequencing in Molecular Diagnosis of Lynch Syndrome - a Pilot Study Using New Stratification Criteria.

Acta Medica (Hradec Kralove) 2018 ;61(3):98-102

Department of Molecular Biology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Slovakia.

The development of the new technologies such as the next-generation sequencing (NGS) makes more accessible the diagnosis of genetically heterogeneous diseases such as Lynch syndrome (LS). LS is one of the most common hereditary form of colorectal cancer. This autosomal dominant inherited disorder is caused by deleterious germline mutations in one of the mismatch repair (MMR) genes - MLH1, MSH2, MSH6 or PMS2, or the deletion in the EPCAM gene. Read More

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January 2018
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Genetic analysis of a case of Helicobacter pylori-uninfected intramucosal gastric cancer in a family with hereditary diffuse gastric cancer.

Gastric Cancer 2018 Dec 12. Epub 2018 Dec 12.

Kansai Electric Power Hospital, Osaka, Japan.

Germline mutations in CDH1, encoding E-cadherin, are known to be the causative mechanism of hereditary diffuse gastric cancer (HDGC). We encountered two cases of gastric cancer in a Japanese family with HDGC. A 28-year-old man (Case 1) died of advanced gastric cancer. Read More

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December 2018

Structure of native lens connexin 46/50 intercellular channels by cryo-EM.

Nature 2018 Dec 12. Epub 2018 Dec 12.

Department of Chemistry, Portland State University, Portland, OR, USA.

Gap junctions establish direct pathways for cell-to-cell communication through the assembly of twelve connexin subunits that form intercellular channels connecting neighbouring cells. Co-assembly of different connexin isoforms produces channels with unique properties and enables communication across cell types. Here we used single-particle cryo-electron microscopy to investigate the structural basis of connexin co-assembly in native lens gap junction channels composed of connexin 46 and connexin 50 (Cx46/50). Read More

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December 2018

Low Prevalence of the Four Common Colombian Founder Mutations in and in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.

Oncologist 2018 Dec 12. Epub 2018 Dec 12.

Molecular Genetics of Breast Cancer, German Cancer Research Center, Heidelberg, Germany.

Background: Inherited mutations in the breast cancer susceptibility genes and () confer high risks of breast and ovarian cancer. In Colombian Hispanic families, four common founder mutations have previously been identified. Because nothing is known about the contribution of germline mutations to early-onset and hereditary breast and/or ovarian cancer in Afro-Colombians, we conducted the first study on 60 patients with early-onset and familial breast cancer in this population. Read More

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December 2018

Is chronic use of hydroxyurea safe for patients with sickle cell anemia? An account of genotoxicity and mutagenicity.

Environ Mol Mutagen 2018 Dec 7. Epub 2018 Dec 7.

Faculty of Pharmacy, Federal University of Ceará, Fortaleza, Brazil.

Sickle cell anemia (SCA) is a hereditary hematological disease that is characterized by a point mutation in the beta globin S gene and has no specific treatment; hydroxyurea (HU) is the only therapeutic agent used in clinical practice. In the present study, we evaluated the deoxyribonucleic acid (DNA) damage index (DI) and chromosomal damage in leukocytes of adult patients with SCA with and without HU. The DI was assessed by the comet assay and chromosomal damage by the leukocyte micronucleus test of adult patients treated with HU (SCA-HU) and without the use of HU (SCA-NoHU). Read More

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December 2018

Next Generation Sequencing in Clinical Oncology: Applications, Challenges and Promises: A Review Article.

Iran J Public Health 2018 Oct;47(10):1453-1457

Zoonosis Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Background: The aim of this mini-review is to highlight the potential applications of next-generation sequencing technology to the field of clinical oncology with respect to genetic diagnosis, cancer classification, predictive biomarkers and personalized medicine.

Methods: Scientific databases were searched to collect relative data.

Results: Effective systematic analysis of whole-genome sequence and whole-exome sequence of tumors, targeted genome profiling, transcriptome sequencing and tumor-normal comparisons can be performed using NGS in order to diagnosis of several types of cancer. Read More

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October 2018

Commentary: Voltage Gating of Mechanosensitive PIEZO Channels.

Front Physiol 2018 20;9:1565. Epub 2018 Nov 20.

Sorbonne Université, CNRS, UMR 8227, Integrative Biology of Marine Models, Station Biologique de Roscoff, Roscoff, France.

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November 2018

Targeted Mutation (R100W) of the Gene Encoding NGF Leads to Deficits in the Peripheral Sensory Nervous System.

Front Aging Neurosci 2018 13;10:373. Epub 2018 Nov 13.

Department of Neurosciences, University of California, San Diego, San Diego, CA, United States.

Nerve growth factor (NGF) exerts multifaceted functions through different stages of life. A missense mutation (R100W) in the beta-NGF gene was found in hereditary sensory autonomic neuropathy V (HSAN V) patients with severe loss of pain perception but without overt cognitive impairment. To better understand the pathogenesis of HSAN V, we generated the first NGF knock in mouse model for HSAN V. Read More

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November 2018

Predictive Analysis of Palmar Dermatoglyphics in Patients with Breast Cancer for Small Bosnian-Herzegovinian Population.

Med Arch 2018 Nov;72(5):357-361

Department of Social Medicine, Faculty of Medicine, University of Tuzla, Tuzla, Bosnia and Herzegovina.

Introduction: Malignant breast cancer is the most common malignancy in women between 40 and 55 years of age. Dermatoglyphs are polygenetically determined properties, whose appearance and number are determined by a specific gene. They represent the skin reefs that are created by epidermis on the fingers or toes, palms and soles. Read More

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November 2018

De-Novo Ligand Design against Mutated Huntington Gene by Ligand-Based Pharmacophore Modeling Approach.

Curr Comput Aided Drug Des 2018 Dec 6. Epub 2018 Dec 6.

Department of Mechanical Engineering (SMME), National University of Science and Technology, Islamabad . Pakistan.

Background: Huntington's disease is characterized by three side effects, including motor disturbances, psychiatric elements, and intellectual weakness. The onset for HD has nonlinear converse associations with the number of repeat sequences of the polyglutamine mutations, so that younger patients have a tendency for longer repeats length. This HD variation is because of a development of a polyglutamine (CAG) repeats in the exon 1 of the Huntingtin protein. Read More

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December 2018

Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene.

Fetal Pediatr Pathol 2018 Dec 7:1-8. Epub 2018 Dec 7.

c Department of Dermatology , Pusan National University Yangsan Hospital , Yangsan , Republic of Korea.

Introduction: Bart's syndrome, a hereditary mechanobullous disorder characterized by aplasia cutis congenita (ACC) with epidermolysis bullosa (EB), has not been genotyped frequently.

Case Report: A full-term female neonate had well-demarcated absence of skin on both legs at birth, with blisters and erosive patches developing immediately after birth. Electron microscopy showed blister formation under the lamina densa layer. Read More

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December 2018

Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.

Mol Genet Genomic Med 2018 Dec 6. Epub 2018 Dec 6.

Department of Colorectal Surgery, Tianjin Union Medical Center, Tianjin, China.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease which primarily manifested with developing adenomas or polyps in colon or rectum. It is caused by the germline mutations in adenomatous polyposis coli (APC) gene. Patients with FAP are usually manifested with "hundreds or even thousands" adenomas or polyps in colon or rectum. Read More

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December 2018

Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia.

Cerebellum 2018 Dec 6. Epub 2018 Dec 6.

Department of Neurology, Neurology Service, Cleveland VA Medical Center, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44110, USA.

Ataxia-telangiectasia is the second most common autosomal recessive hereditary ataxia, with an estimated incidence of 1 in 100,000 births. Besides ataxia and ocular telangiectasias, eye movement abnormalities have long been associated with this disorder and is frequently present in almost all patients. A handful of studies have described the phenomenology of ocular motor deficits in ataxia-telangiectasia. Read More

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December 2018

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.

Genet Med 2018 Dec 7. Epub 2018 Dec 7.

Mayo Clinic, Rochester, MN, USA.

Purpose: Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity framework.

Methods: Forty-two gene-disease pairs were assessed for strength of evidence supporting an association with hereditary colorectal cancer and/or polyposis. Genetic and experimental evidence supporting each gene-disease relationship was curated independently by two trained biocurators. Read More

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December 2018

Differential Expression of PD-L1 Between Sporadic and VHL-Associated Hereditary Clear-Cell Renal Cell Carcinoma and Its Correlation With Clinicopathological Features.

Clin Genitourin Cancer 2018 Nov 13. Epub 2018 Nov 13.

Department of Urology, Peking University First Hospital, Beijing, China; Institute of Urology, Peking University, Beijing, China; National Urological Cancer Center, Beijing, China. Electronic address:

Background: Programmed death ligand-1 (PD-L1) is a potential predictive biomarker for immunotherapy in several malignancies. However, the expression level and clinical significance of PD-L1 in von Hippel-Lindau (VHL)-associated hereditary clear-cell renal cell carcinoma (ccRCC) remain unclear.

Patients And Methods: Surgical specimens were recruited from 129 patients with sporadic ccRCC and 26 patients with VHL-associated hereditary ccRCC. Read More

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November 2018

[Cobalamin deficiency in dogs and cats].

Tierarztl Prax Ausg K Kleintiere Heimtiere 2018 Oct 12;46(5):309-314. Epub 2018 Dec 12.

Cobalamin is a member of the B-group of vitamins and a cofactor for metabolic processes like nucleic acid synthesis, amino acid synthesis, and the citric acid cycle. Mammals are unable to synthesize cobalamin and therefore rely on adequate food intake. Cobalamin absorption is a complex process in the stomach, duodenum, and ileum, requiring a functional exocrine pancreas. Read More

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October 2018
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Laryngeal hereditary hemorrhagic telangiectasia.

Ear Nose Throat J 2018 Dec;97(12):388

Laboratory of Phonetics, Faculty of Psychology, Research Institute for Language Sciences and Technology, University of Mons, Mons, Belgium.

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December 2018

Lanadelumab for the Prophylactic Treatment of Hereditary Angioedema with C1 Inhibitor Deficiency: A Review of Preclinical and Phase I Studies.

BioDrugs 2018 Dec 12. Epub 2018 Dec 12.

Division of Rheumatology, Allergy and Immunology, University of California, San Diego, 8899 University Center Lane, Suite 230, San Diego, CA, 92122, USA.

Hereditary angioedema (HAE) with C1 esterase inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare disease characterized by diminished levels or dysfunctional activity of C1-INH, leading to dysregulated plasma kallikrein activity within the kallikrein-kinin pathway. Symptoms manifest as painful, potentially life-threatening swelling of subcutaneous tissues throughout the body and/or submucosal edema in the upper airway or gastrointestinal tract. Attacks recur with unpredictable frequency, intensity, and duration, placing a heavy burden on patients' daily lives. Read More

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December 2018

Novel extraction of high quality genomic DNA from frozen bovine blood samples by using detergent method.

Open Vet J 2018 12;8(4):415-422. Epub 2018 Nov 12.

Department of Biotechnology, Vikrama Simhapuri University, Nellore-524003 Andhrapradesh, India.

DNA is the prerequisite for life's inception that transfers hereditary information, past several years; various types of commercial kits are made available which vary depending on the type of the biological sample being used. The present study is focused on developing an improvised methodology for the isolation of genomic DNA from stored bovine blood samples. DNA was isolated by using the conventional Phenol: Chloroform: Isoamyl alcohol (PCI) method and Detergent method. Read More

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November 2018

Update of Pheochromocytoma Syndromes: Genetics, Biochemical Evaluation, and Imaging.

Front Endocrinol (Lausanne) 2018 27;9:515. Epub 2018 Nov 27.

Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.

Pheochromocytomas and paragangliomas (PCCs/PGLs) are rare commonly benign neuroendocrine tumors that share pathology features and clinical behavior in many cases. While PCCs are chromaffin-derived tumors that arise within the adrenal medulla, PGLs are neural-crest-derived tumors that originate at the extraadrenal paraganglia. Pheochromocytoma-paraganglioma (PPGL) syndromes are rapidly evolving entities in endocrinology and oncology. Read More

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November 2018

Multiple Gastrointestinal Cancers in a Single Patient-a Rare Clinical Entity.

Indian J Surg Oncol 2018 Dec 16;9(4):633-635. Epub 2018 May 16.

Department of Surgical Oncology, BLK Hospital, Rajinder Place, New Delhi, 110008 India.

Multiple gastrointestinal cancers in a single patient is a rare entity. In our study, we are showing the clinical presentation and management of these patients. A fifty-nine-year-old asthenic male (already treated case of metachronous colorectal cancer in 2008 and 2011) presented with complaints of generalized weakness and fatigue. Read More

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December 2018
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Results of First-round of Surveillance in Individuals at High-risk of Pancreatic Cancer from the AISP (Italian Association for the Study of the Pancreas) Registry.

Am J Gastroenterol 2018 Dec 11. Epub 2018 Dec 11.

Pancreatic Surgery Unit, Humanitas Clinical and Research Center, Milano, Italy.

Introduction: Surveillance programs on high-risk individuals (HRIs) can detect pre-malignant lesions or early pancreatic cancer (PC). We report the results of the first screening round of the Italian multicenter program supported by the Italian Association for the study of the Pancreas (AISP).

Methods: The multicenter surveillance program included asymptomatic HRIs with familial (FPC) or genetic frailty (GS: BRCA1/2, p16/CDKN2A, STK11/LKB1or PRSS1, mutated genes) predisposition to PC. Read More

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December 2018

Legacies and Relationships: Diverse Social Networks and BRCA1/2 Risk Management Decisions and Actions.

J Fam Nurs 2018 Dec 12:1074840718815844. Epub 2018 Dec 12.

5 National Institutes of Health, Bethesda, MD, USA.

In families with hereditary breast/ovarian cancer, complex disease histories challenge established patterns of family communication and influence decision-making for clinical surveillance, genetic testing, and risk management. An interdisciplinary team examined longitudinal interview data from women with identified BRCA1/2 mutations to assess interactions within family and social networks about risk information communication and management. We used interpretive description to identify motivation, content, and derived benefit of these interactions. Read More

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December 2018

A Novel Variant of the FZD4 Gene in a Chinese Family Causes Autosomal Dominant Familial Exudative Vitreoretinopathy.

Cell Physiol Biochem 2018 11;51(5):2445-2455. Epub 2018 Dec 11.

Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, Luzhou,

Background/aims: Familial exudative vitreoretinopathy (FEVR) is a complex hereditary eye disorder characterized by incomplete development of the retinal vasculature, thereby affecting retinal angiogenesis.

Methods: In this study, a Chinese autosomal dominant FEVR pedigree was recruited. Ophthalmic examinations were performed, targeted next-generation sequencing was used to identify the causative gene, and Sanger sequencing was conducted to verify the candidate mutation. Read More

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December 2018
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