Search Our Scientific Publications & Authors

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

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

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

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

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

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:

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

J Cardiol Cases 2013 Apr 1;7(4):e93-e96. Epub 2012 Dec 1.

Department of Cardiology, Bayindir Hospital, Ankara, Turkey.

Multiple endocrine neoplasia 2 (MEN 2) is a hereditary syndrome associated with medullary thyroid carcinoma, pheochromocytoma (PCC), and hyperparathyroidism. PCCs in patients with MEN 2 are usually found in the adrenals after the manifestation of medullary thyroid cancer and are commonly bilateral and hormonally active. Unfortunately, a diagnosis of MEN 2 or PCC often is delayed until after the patient has developed an advanced MEN 2-related tumor. Read More

J Cardiol Cases 2012 Dec 19;6(6):e170-e172. Epub 2012 Sep 19.

Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, 5-7-1 Fujishirodai, Suita, Osaka 565-8565, Japan.

Long QT syndrome (LQTS) is a hereditary ion channelopathy resulting in prolonged cardiac repolarization and abnormal prolongation of the QT interval on the electrocardiogram (ECG). The patients are likely to develop ventricular arrhythmias and sudden cardiac death. Molecular biology and basic electrophysiology studies revealed an approach to the management of patients with LQTS, which includes genotype-based risk stratification. Read More

J Cardiol Cases 2011 Apr 16;3(2):e68-e70. Epub 2011 Feb 16.

Akdeniz University Faculty of Medicine, Cardiology Department, Dumlupinar Bouleward, Konyaaltı, Antalya, Turkey.

Duchenne muscular dystrophy is an X linked hereditary progressive neuromuscular disease and it is characterized by development of weakness and atrophy in affected muscles. In late phases of disease with involvement of respiratory and cardiac muscles, patients die because of respiratory and cardiac failure. Cardiomyopathy is a common complication and various types of arrhythmia because of conduction system involvement can be seen. Read More

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

Muscle Nerve 2018 Dec 7. Epub 2018 Dec 7.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905.

Introduction: Decremental responses in repetitive nerve stimulation (RNS) have been reported in a few hereditary myopathies. We examined the frequency of decrement in a cohort of myopathy patients.

Methods: We reviewed all patients referred for myopathy who underwent RNS between January 2007 and May 2017. Read More

Muscle Nerve 2018 Dec 7. Epub 2018 Dec 7.

Department of Human Genetics, Ruhr-University, Bochum, Germany.

Int J Cancer 2018 Dec 11. Epub 2018 Dec 11.

Institute for Refractory Cancer Research.

Hypermutagenesis refers to marked increase in the number of mutations due to continuous mutagenic process. Hypermutated tumors, have being found in several tumor types, are associated with inherited or acquired alterations in DNA repair pathways. Hypermutation has been observed in a subset of adult glioma patients as a direct result of temozolomide(TMZ)-induced mutagenesis. Read More

J Intern Med 2018 Dec 8. Epub 2018 Dec 8.

Clinical Genetics, Karolinska University Hospital, 171 76, Stockholm.

Pheochromocytomas (PCC) and paragangliomas (PGL), collectively abbreviated PPGL are rare tumours originating from the chromaffin cells in the adrenal medulla (PCC) or the sympathetic or parasympathetic extra-adrenal paraganglia (PGL) (1, 2), Figure 1. The enlarged cell volume leads to increased levels of catecholamines (adrenaline, noraderenaline and/or dopamine) and their metabolites which can be measured in plasma or urine for biochemical diagnosis. Hormone-producing PPGL commonly originate from sympathetic paraganglia in the adrenal glands, abdomen or pelvis (3). Read More

Rev Neurol 2018 Dec;67(12):491-504

Centro de Biologia Molecular Severo Ochoa. Universidad Autonoma de Madrid, Madrid, Espana.

Introduction: The amino acids glutamate and glycine, apart from their role in protein synthesis, are two fundamental neurotransmitters in the central nervous system of mammals. The first one is ubiquitous and is involved in excitatory pathways of the neocortex, the retina and the cerebellum, and the second is involved in inhibitory pathways of brain caudal areas. However, both share their way of acting by integrating into the functioning of glutamate receptors of the NMDA type fundamentals in the regulation of motor, sensory and cognitive systems. Read More

Breast Cancer 2018 Dec 11. Epub 2018 Dec 11.

Universidade Federal de São João del Rei (UFSJ), 400 Sebastião Gonçalves Coelho Ave., Chanadour, Divinópolis, MG, 35501-296, Brazil.

Background: Few studies related to hereditary breast and ovarian cancer syndrome (HBOC) have been conducted in Brazil, and they are restricted to only small areas of the country. Here, we report the mutation profile of BRCA1/2, CHEK2 and TP53 genes in a cohort from Minas Gerais state.

Methods: These genes from 44 patients at high risk for HBOC were screened through high-resolution melting and/or sequencing. Read More

Cereb Cortex 2018 Dec 7. Epub 2018 Dec 7.

Department of Neurophysiology, Medical Faculty, Ruhr University Bochum, Bochum, Germany.

Although by adulthood cortical structures and their capacity for processing sensory information have become established and stabilized, under conditions of cortical injury, or sensory deprivation, rapid reorganization occurs. Little is known as to the impact of this kind of adaptation on cellular processes related to memory encoding. However, imaging studies in humans suggest that following loss or impairment of a sensory modality, not only cortical but also subcortical structures begin to reorganize. Read More

Rev Med Chil 2018 Aug;146(8):943-946

Escuela de Medicina, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Porphyria cutanea tarda (PCT) is the most common type of porphyria: it is characterized by blistering lesions, erosions and crusts on the back of the hands, associated with photosensitivity and facial hypertrichosis. It is produced by acquired or hereditary deficiency of the enzyme UROD, fifth enzyme in the chain of production of the Heme group. This causes accumulation of porphyrins in the liver, which are subsequently mobilized to the skin, where lesions are generated by photosensitivity. Read More

Commun Biol 2018 30;1:211. Epub 2018 Nov 30.

1Department of Infectious Diseases, Parasitology, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 324, 69120 Heidelberg, Germany.

Sickle cell trait, a common hereditary blood disorder, protects carriers from severe disease in infections with the human malaria parasite . Protection is associated with a reduced capacity of parasitized erythrocytes to cytoadhere to the microvascular endothelium and cause vaso-occlusive events. However, the underpinning cellular and biomechanical processes are only partly understood and the impact on endothelial cell activation is unclear. Read More

Nurs Open 2019 Jan 28;6(1):126-135. Epub 2018 Aug 28.

AARA Research Center Dallas Texas.

Aims: The aim of this study was to provide recommendations for training patients with hereditary angioedema, based on nursing clinical trial experience, to self-administer subcutaneous C1-INH (C1-INH[SC]) used as routine prophylaxis.

Background: A volume-reduced, subcutaneous C1-INH concentrate (C1-INH(SC); HAEGARDA®; CSL Behring) was recently FDA-approved for the routine prevention of hereditary angioedema attacks. Nurses will play an important role in patient training. Read More

Front Neurol 2018 26;9:958. Epub 2018 Nov 26.

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, United States.

Hereditary Spastic Paraplegia is an extraordinarily heterogeneous disease caused by over 50 Mendelian genes. Recent applications of next-generation sequencing, large scale data analysis, and data sharing/matchmaking, have discovered a quickly expanding set of additional HSP genes. Since most recently discovered HSP genes are rare causes of the disease, there is a growing concern of a persisting diagnostic gap, estimated at 30-40%, and even higher for sporadic cases. Read More

Neurol Genet 2018 Dec 22;4(6):e282. Epub 2018 Oct 22.

Department of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.

Objective: To report a new missense mutation causing distal hereditary motor neuropathy and presynaptic neuromuscular junction (NMJ) transmission dysfunction.

Methods: We report a multigenerational family with a new missense mutation, c. 1112T>A (p. Read More

Neurol Genet 2018 Dec 24;4(6):e279. Epub 2018 Oct 24.

Academic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.

Objective: To clinically, genetically, and radiologically characterize a large cohort of patients.

Methods: We used data from next-generation sequencing panels for ataxias and hereditary spastic paraplegia to identify a characteristic phenotype that helped direct genetic testing for variations in . We analyzed MRI. Read More

PLoS One 2018 11;13(12):e0208415. Epub 2018 Dec 11.

Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by primary muscle degeneration. Patients with DMD reveal progressive muscle weakness leading to ambulatory dysfunction. Novel outcome measures are needed for more sensitive evaluation of therapeutic effects in clinical trials. Read More

Ann Indian Acad Neurol 2018 Oct-Dec;21(4):335-339

Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.