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https://www.readbyqxmd.com/read/28527289/-characterization-of-patients-with-skeletal-genetic-diseases-in-a-colombian-referral-center
#1
Harvy Mauricio Velasco, Lina Patricia Buelvas
INTRODUCTION: Short height in Colombia has an estimated prevalence of 10%. The 2009 Nosology and Classification of Skeletal Genetic Diseases described 456 clinical conditions using biochemical, molecular and radiological criteria for diagnosis. OBJECTIVE: To analyze demographic, epidemiological and clinical variables in a group of patients with skeletal genetic diseases referred to the Instituto de Ortopedia Infantil Roosevelt. MATERIALS AND METHODS: Patients referred between 2008 and 2014 were analyzed filtering 167 diagnoses of the International Classification of Diseases, 10th revision (ICD 10), related to skeletal genetic diseases...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527083/shared-mechanisms-of-epilepsy-migraine-and-affective-disorders
#2
Davide Zarcone, Simona Corbetta
Since the nineteenth century several clinical features have been observed in common between migraine and epilepsy (such as episodic attacks, triggering factors, presence of aura, frequent familiarity), but only in recent years researchers have really engaged in finding a common pathogenic mechanism. From studies of disease incidence, we understand how either migraine among patients with epilepsy or epilepsy among migraine patients are more frequent than in the general population. This association may result from a direct causality, by the same environmental risk factors and/or by a common genetic susceptibility...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28526817/myelination-of-the-brain-in-major-depressive-disorder-an-in-vivo-quantitative-magnetic-resonance-imaging-study
#3
Matthew D Sacchet, Ian H Gotlib
Evidence from post-mortem, genetic, neuroimaging, and non-human animal research suggests that Major Depressive Disorder (MDD) is associated with abnormalities in brain myelin content. Brain regions implicated in this research, and in MDD more generally, include the nucleus accumbens (NAcc), lateral prefrontal cortex (LPFC), insula, subgenual anterior cingulate cortex (sgACC), and medial prefrontal cortex (mPFC). We examined whether MDD is characterized by reduced myelin at the whole-brain level and in NAcc, LPFC, insula, sgACC, and mPFC...
May 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526554/the-roles-of-orexins-in-sleep-wake-regulation
#4
REVIEW
Michihiro Mieda
Orexin A and orexin B are hypothalamic neuropeptides initially identified as endogenous ligands for two orphan G-protein coupled receptors (GPCRs). A deficiency of orexin signaling results in the sleep disorder narcolepsy-cataplexy in humans, dogs, and rodents, a sleep disorder characterized by excessive daytime sleepiness and cataplexy. Multiple approaches, including molecular genetic, electrophysiological, pharmacological, and neuroanatomical studies have suggested that orexins play critical roles in the maintenance of wakefulness by regulating the function of monoaminergic and cholinergic neurons that are implicated in the regulation of wakefulness...
May 16, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/28526300/embryonic-ap1-transcription-factor-deficiency-causes-a-collodion-baby-like-phenotype
#5
Christina A Young, Richard L Eckert, Gautam Adhikary, Debra Crumrine, Peter M Elias, Miroslav Blumenberg, Ellen A Rorke
AP1 transcription factors are important controllers of gene expression in the epidermis, and altered AP1 factor function can perturb keratinocyte proliferation and differentiation. However, our understanding of how AP1 signaling changes may underlie or exacerbate skin disease is limited. We have shown that inhibiting AP1 factor function in suprabasal adult epidermis leads to reduced filaggrin levels and to a phenotype that resembles the genetic disorder, ichthyosis vulgaris. We now show that inhibiting AP1 factor function during development in embryonic epidermis produces marked phenotypic changes including reduced filaggrin mRNA and protein levels, compromised barrier function, marked ultrastructural change and enhanced dehydration susceptibility that resembles the phenotype observed in the flaky tail mouse, a model for ichthyosis vulgaris...
May 16, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28526280/an-overview-of-medical-risk-factors-for-childhood-psychosis-implications-for-research-and-treatment
#6
REVIEW
Marianna Giannitelli, Angèle Consoli, Marie Raffin, Renaud Jardri, Douglas F Levinson, David Cohen, Claudine Laurent-Levinson
OBJECTIVE: Psychotic disorders in childhood and early adolescence often progress to chronic schizophrenia, but in many cases there are diagnosable medical and genetic causes or risk factors. We reviewed our clinical experience and the relevant literature to identify these factors and to define their clinical features, appropriate work-up and treatment. METHOD: We reviewed the results of comprehensive medical evaluations of 160 psychotic children and adolescents in our center...
May 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28526038/phosphorylation-of-tau-at-y18-but-not-tau-fyn-binding-is-required-for-tau-to-modulate-nmda-receptor-dependent-excitotoxicity-in-primary-neuronal-culture
#7
Takashi Miyamoto, Liana Stein, Reuben Thomas, Biljana Djukic, Praveen Taneja, Joseph Knox, Keith Vossel, Lennart Mucke
BACKGROUND: Hyperexcitability of neuronal networks can lead to excessive release of the excitatory neurotransmitter glutamate, which in turn can cause neuronal damage by overactivating NMDA-type glutamate receptors and related signaling pathways. This process (excitotoxicity) has been implicated in the pathogenesis of many neurological conditions, ranging from childhood epilepsies to stroke and neurodegenerative disorders such as Alzheimer's disease (AD). Reducing neuronal levels of the microtubule-associated protein tau counteracts network hyperexcitability of diverse causes, but whether this strategy can also diminish downstream excitotoxicity is less clear...
May 19, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28525974/pancreas-and-gallbladder-agenesis-in-a-newborn-with-semilobar-holoprosencephaly-a-case-report
#8
Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In't Veld, Jean De Schepper, Andrew Hattersley, Harry Heimberg
BACKGROUND: Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development. CASE PRESENTATION: We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. Clinical findings were later confirmed by autopsy, which also identified agenesis of the gallbladder...
May 19, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28525953/human-yeast-hybrids-new-visions-to-genetic-disorders-and-drug-discovery
#9
Najmeh Zarei, Vahid Khalaj
Yeast has been a very helpful organism for centuries, especially with respect to fermentation of sugars and production of bread. However, for an even longer time, yeast has been a distant relative of humans having diverged from a common ancestor, about one billion years ago. More than one third of the yeast genes have human counterparts, despite this evolutionary distance. Yeast and human orthologs perform the same or similar functions. Investigations have demonstrated that 9-92% of the amino acid sequences in similar human and yeast proteins overlap...
July 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28525818/hypertension-update-jnc8-and-beyond
#10
REVIEW
Tara Shrout, David W Rudy, Michael T Piascik
Hypertension is the most preventable major risk factor for cardiovascular morbidity and mortality. The etiology of elevated blood pressure is a complex process involving the interaction of genetics, demographics, comorbid disorders, and environmental influences. Effective hypertensive therapy has been shown to reduce cardiovascular morbidity and mortality. JNC reports have served as a valuable source of guidelines, and JNC 8 is the most recently updated guideline for the prevention, diagnosis, and treatment of hypertension...
May 16, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/28525759/modeling-rett-syndrome-using-talen-edited-mecp2-mutant-cynomolgus-monkeys
#11
Yongchang Chen, Juehua Yu, Yuyu Niu, Dongdong Qin, Hailiang Liu, Gang Li, Yingzhou Hu, Jiaojian Wang, Yi Lu, Yu Kang, Yong Jiang, Kunhua Wu, Siguang Li, Jingkuan Wei, Jing He, Junbang Wang, Xiaojing Liu, Yuping Luo, Chenyang Si, Raoxian Bai, Kunshan Zhang, Jie Liu, Shaoyong Huang, Zhenzhen Chen, Shuang Wang, Xiaoying Chen, Xinhua Bao, Qingping Zhang, Fuxing Li, Rui Geng, Aibin Liang, Dinggang Shen, Tianzi Jiang, Xintian Hu, Yuanye Ma, Weizhi Ji, Yi Eve Sun
Gene-editing technologies have made it feasible to create nonhuman primate models for human genetic disorders. Here, we report detailed genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys serving as a model for a neurodevelopmental disorder, Rett syndrome (RTT), which is caused by loss-of-function mutations in the human MECP2 gene. Male mutant monkeys were embryonic lethal, reiterating that RTT is a disease of females. Through a battery of behavioral analyses, including primate-unique eye-tracking tests, in combination with brain imaging via MRI, we found a series of physiological, behavioral, and structural abnormalities resembling clinical manifestations of RTT...
May 18, 2017: Cell
https://www.readbyqxmd.com/read/28525603/genome-wide-association-study-of-psychosis-proneness-in-the-finnish-population
#12
Alfredo Ortega-Alonso, Jesper Ekelund, Antti-Pekka Sarin, Jouko Miettunen, Juha Veijola, Marjo-Riitta Järvelin, William Hennah
The current study examined quantitative measures of psychosis proneness in a nonpsychotic population, in order to elucidate their underlying genetic architecture and to observe if there is any commonality to that already detected in the studies of individuals with overt psychotic conditions, such as schizophrenia and bipolar disorder. Heritability, univariate and multivariate genome-wide association (GWAs) tests, including a series of comprehensive gene-based association analyses, were developed in 4269 nonpsychotic persons participating in the Northern Finland Birth Cohort 1966 study with information on the following psychometric measures: Hypomanic Personality, Perceptual Aberration, Physical and Social Anhedonia (also known as Chapman's Schizotypia scales), and Schizoidia scale...
May 19, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28525403/genetic-diseases-associated-with-an-increased-risk-of-skin-cancer-development-in-childhood
#13
Alexander L Fogel, Kavita Y Sarin, Joyce M C Teng
PURPOSE OF REVIEW: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. RECENT FINDINGS: In basal cell nevus syndrome (BCNS), the patched2 (PTCH2) and suppressor of fused (SUFU) genes have been implicated in disease pathogenesis...
May 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28525397/an-unusual-case-of-sudden-death-is-there-a-relationship-between-thyroid-disorders-and-fatal-pulmonary-thromboembolism-a-case-report-and-review-of-literature
#14
Isabella Aquila, Silvia Boca, Fiorella Caputo, Matteo A Sacco, Santo Gratteri, Vittorio Fineschi, Pietrantonio Ricci
In adults, the most common cause of sudden death is coronary heart disease or defects in the cardiac conduction system; however, there are many cases of sudden death occurring from other causes such as fatal pulmonary thromboembolism. Several risk factors are recognized, including hospitalization, surgery, obesity, pregnancy, the use of oral contraceptives, traumatic fractures, and genetic conditions, which cause hypercoagulable states such as factor V Leiden mutations. Although many risk factors have been identified, the mortality rate is still high...
May 19, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28524722/lesch-nyhan-disease-in-two-families-from-chilo%C3%A3-island-with-mutations-in-the-hprt1-gene
#15
Khue Vu Nguyen, Sebastian Silva, Monica Troncoso, Robert K Naviaux, William L Nyhan
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon 2 and exon 3 respectively, in the HGprt enzyme protein from different members of two Chiloé Island families...
May 19, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28524601/huntington-s-disease-with-severe-neck-infection
#16
Shunsuke Hino, Takahiro Kaneko, Norio Horie, Tetsuo Shimoyama
OBJECTIVE: To present a case of Huntington's disease (HD) with severe neck infection. BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative genetic disorder and is often accompanied by dysphagia. MATERIALS AND METHODS: The patient was a 64-year-old man with HD. The severe neck infection was considered as one of the symptoms of HD. CONCLUSION: Clinicians should remember that patients with HD are apt to delay dental consultation, resulting in serious oral infections...
May 19, 2017: Gerodontology
https://www.readbyqxmd.com/read/28524462/editorial-perspective-neurodiversity-a-revolutionary-concept-for-autism-and-psychiatry
#17
EDITORIAL
Simon Baron-Cohen
Should we continue to refer to autism as a 'disease' or 'disorder', or is the framework of 'neurodiversity' a more humane and accurate lens through which to view people with autism? Evidence at the genetic, neural, behavioural and cognitive levels reveals people with autism show both differences, and signs of disability, but not disorder. Disability requires societal support, acceptance of difference and diversity, and societal "reasonable adjustment", whilst disorder is usually taken to require cure or treatment...
June 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28524230/the-etiology-of-autistic-traits-in-preschoolers-a-population-based-twin-study
#18
Eveline L de Zeeuw, Catharina E M van Beijsterveldt, Rosa A Hoekstra, Meike Bartels, Dorret I Boomsma
BACKGROUND: Autism Spectrum Disorders (ASD) are highly heritable, but the exact etiological mechanisms underlying the condition are still unclear. METHODS: Using a multiple rater twin design in a large sample of general population preschool twins, this study aimed to (a) estimate the contribution of genetic and environmental factors to autistic traits, controlling for the possible effects of rater bias, (b) to explore possible sex differences in etiology and (c) to investigate the discordance in autistic traits in monozygotic and same-sex dizygotic twin pairs...
May 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28524225/-how-must-we-manage-epileptic-encephalopathies-in-infants-conclusions
#19
V Soto-Insuga
Epileptic encephalopathies are defined as epileptic syndromes in which the epileptic activity per se (in the form of frequent seizures or the presence of interictal epileptiform activity) contributes to a cognitive and behavioural disorder that is more important than could be expected from the causation of the disorder. Their aetiological diagnosis is fundamental to allow an early treatment to be established. We propose a diagnostic algorithm for patients with epileptic encephalopathy with onset during the first year of life, which includes management coordinated with electroencephalographic studies, neuroimaging, and screening for metabolic and genetic disorders...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524223/-infantile-epileptic-encephalopathies-what-matters-is-genetics
#20
J J Garcia-Penas, M Jimenez-Legido
INTRODUCTION: Epileptic encephalopathies in infancy are defined as conditions where the sustained epileptic activity itself may contribute to the severe neurological and cognitive impairment. These epileptic encephalopathies include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and malignant migrating epilepsy in infancy. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects...
May 17, 2017: Revista de Neurologia
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