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https://read.qxmd.com/read/30877735/cerebellar-pathology-in-alzheimer-s-disease
#1
Ioannis Mavroudis
Alzheimer's disease (AD) is one of the main causes of dementia in the western world. It is clinically characterized by memory impairment, deterioration of intellectual faculties and loss of professional skills. AD brains exhibit significant atrophy, predominantly in the temporal and parietal lobes, while light microscopy reveals deposition of senile plaques and neurofibrillary degeneration initially in the entorhinal cortex, the hippocampus, and in the acoustic and visual cortices, in the frontal lobe and the cerebellum in the advanced stages...
January 2019: Hellenic Journal of Nuclear Medicine
https://read.qxmd.com/read/30877295/emerging-challenges-and-opportunities-in-infectious-disease-epidemiology
#2
Joseph A Lewnard, Arthur L Reingold
Much of the intellectual tradition of modern epidemiology stems from efforts to understand and combat chronic diseases persisting through the 20th century epidemiologic transition of countries such as the United States and United Kingdom. Following decades of relative obscurity, infectious disease epidemiology has undergone an intellectual rebirth in recent years amid increasing recognition of the threat posed by both new and familiar pathogens. Here we review the emerging coalescence of infectious disease epidemiology around a core set of study designs and statistical methods bearing little resemblance to the chronic disease epidemiology toolkit...
March 16, 2019: American Journal of Epidemiology
https://read.qxmd.com/read/30875393/functional-genomics-analysis-of-phelan-mcdermid-syndrome-22q13-region-during-human-neurodevelopment
#3
Catherine A Ziats, Luke P Grosvenor, Sara M Sarasua, Audrey E Thurm, Susan E Swedo, Ahmed Mahfouz, Owen M Rennert, Mark N Ziats
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, severely delayed language development and specific facial features, and is caused by a deletion within chromosome 22q13.3. SHANK3, which is located at the terminal end of this region, has been repeatedly implicated in other neurodevelopmental disorders and deletion of this gene specifically is thought to cause much of the neurologic symptoms characteristic of PMS. However, it is still unclear to what extent SHANK3 deletions contribute to the PMS phenotype, and what other genes nearby are causal to the neurologic disease...
2019: PloS One
https://read.qxmd.com/read/30871974/homozygosity-mapping-and-whole-exome-sequencing-reveal-a-novel-ercc8-mutation-in-a-chinese-consanguineous-family-with-unique-cerebellar-ataxia
#4
Danyan Zhang, Limeng Dai, Zhenhua Zhou, Jun Hu, Yun Bai, Hong Guo
BACKGROUND: A consanguineous Chinese family was affected by an apparently novel autosomal recessive disorder characterized by cerebellar ataxia, cutaneous photosensitivity, and mild intellectual disability. METHODS: The family was evaluated by homozygosity mapping, haplotype analysis, whole exome sequencing, and candidate gene mutation screening of the proband to identify the disease-associated gene and mutation. Bioinformatics methods were used to predict the functional significance of the mutated gene product...
March 11, 2019: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://read.qxmd.com/read/30868117/epilepsy-in-tuberous-sclerosis-complex-findings-from-the-tosca-study
#5
Rima Nabbout, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D Amato, Guillaume Beaure d'Augères, Petrus J de Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna Jansen, John C Kingswood
Objective: To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC). Methods: Retrospective and prospective patients' data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability...
March 2019: Epilepsia Open
https://read.qxmd.com/read/30866734/using-two-dimensional-convolutional-neural-networks-for-identifying-gtp-binding-sites-in-rab-proteins
#6
Nguyen Quoc Khanh Le, Quang-Thai Ho, Yu-Yen Ou
Deep learning has been increasingly and widely used to solve numerous problems in various fields with state-of-the-art performance. It can also be applied in bioinformatics to reduce the requirement for feature extraction and reach high performance. This study attempts to use deep learning to predict GTP binding sites in Rab proteins, which is one of the most vital molecular functions in life science. A functional loss of GTP binding sites in Rab proteins has been implicated in a variety of human diseases (choroideremia, intellectual disability, cancer, Parkinson's disease)...
February 2019: Journal of Bioinformatics and Computational Biology
https://read.qxmd.com/read/30864096/phenylketonuria-current-treatments-and-future-developments
#7
Uta Lichter-Konecki, Jerry Vockley
Phenylalanine hydroxylase (PAH) deficiency is an inborn error of metabolism that results in elevated phenylalanine levels in blood. The classical form of the disease with phenylalanine level > 1200 µmol/L in blood is called phenylketonuria (PKU) and is associated with severe intellectual disability when untreated. In addition, phenylalanine levels above the therapeutic range in pregnant female patients lead to adverse fetal effects. Lowering the plasma phenylalanine level prevents intellectual disability, maintaining the level in the therapeutic range of 120-360 µmol/L is associated with good outcome for patients as well as their pregnancies...
March 12, 2019: Drugs
https://read.qxmd.com/read/30861998/eight-weeks-of-aerobic-interval-training-improves-psychomotor-function-in-patients-with-parkinson-s-disease-randomized-controlled-trial
#8
Jarosław Marusiak, Beth E Fisher, Anna Jaskólska, Krzysztof Słotwiński, Sławomir Budrewicz, Magdalena Koszewicz, Katarzyna Kisiel-Sajewicz, Bartosz Kamiński, Artur Jaskólski
BACKGROUND: This study examined the generalized effects of cycle ergometer aerobic interval training (AIT) on psychomotor behaviors in individuals with Parkinson's disease (PD), including bimanual motor control, cognitive function, and neurological motor and non-motor parkinsonian signs. METHODS: Twenty mild to moderate PD patients were randomly allocated to the following groups: (1) trained group (PD-TR, n = 10), which besides receiving usual care, underwent an 8-week moderate intensity AIT program; or (2) control group (PD-CO, n = 10) which received usual care, including participation in conventional physical therapy...
March 11, 2019: International Journal of Environmental Research and Public Health
https://read.qxmd.com/read/30858804/the-frog-xenopus-as-a-model-to-study-joubert-syndrome-the-case-of-a-human-patient-with-compound-heterozygous-variants-in-pibf1
#9
Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R Bartram, Susanne Theiß, Angelika Seitz, Nagarajan Paramasivam, Angela Schulz, Ute Moog, Martin Blum, Christina M Evers
Joubert syndrome (JS) is a congenital autosomal-recessive or-in rare cases-X-linked inherited disease. The diagnostic hallmark of the so-called molar tooth sign describes the morphological manifestation of the mid- and hind-brain in axial brain scans. Affected individuals show delayed development, intellectual disability, ataxia, hyperpnea, sleep apnea, abnormal eye, and tongue movements as well as hypotonia. At the cellular level, JS is associated with the compromised biogenesis of sensory cilia, which identifies JS as a member of the large group of ciliopathies...
2019: Frontiers in Physiology
https://read.qxmd.com/read/30854657/novel-insights-into-the-clinical-and-molecular-spectrum-of-congenital-disorders-of-autophagy
#10
REVIEW
Julian Teinert, Robert Behne, Miriam Wimmer, Darius Ebrahimi-Fakhari
Autophagy is a fundamental and conserved catabolic pathway that mediates the degradation of macromolecules and organelles in lysosomes. Autophagy is particularly important to post-mitotic and metabolically active cells such as neurons. The complex architecture of neurons and their long axons pose additional challenges for efficient recycling of cargo. Not surprisingly autophagy is required for normal central nervous system development and function. Several single gene disorders of the autophagy pathway have been discovered in recent years giving rise to a novel group of inborn errors of metabolism referred to as congenital disorders of autophagy...
March 10, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30853789/expression-and-characterization-of-human-fragile-x-mental-retardation-protein-isoforms-and-interacting-proteins-in-human-cells
#11
Jiang Zhang, Guangli Wang, Wei-Wu He, Molly Losh, Elizabeth Berry-Kravis, William E Funk
Fragile X mental retardation protein is an mRNA-binding protein associated with phenotypic manifestations of fragile X syndrome, an X-linked disorder caused by mutation in the FMR1 gene that is the most common inherited cause of intellectual disability. Despite the well-studied genetic mechanism of the disease, the proteoforms of fragile X mental retardation protein have not been thoroughly characterized. Here, we report the expression and mass spectrometric characterization of human fragile X mental retardation protein...
2019: Proteomic Insights
https://read.qxmd.com/read/30853154/physical-and-family-history-variables-associated-with-neurological-and-cognitive-development-in-sturge-weber-syndrome
#12
Alyssa M Day, Charles E McCulloch, Adrienne M Hammill, Csaba Juhász, Warren D Lo, Anna L Pinto, Daniel K Miles, Brian J Fisher, Karen L Ball, Angus A Wilfong, Alex V Levin, Avrey J Thau, Anne M Comi, Jim I Koenig, Michael T Lawton, Douglas A Marchuk, Marsha A Moses, Sharon F Freedman, Jonathan Pevsner
BACKGROUND: Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS...
December 20, 2018: Pediatric Neurology
https://read.qxmd.com/read/30852413/trisomy-21-in-forensic-autopsies-review-of-a-20-year-period
#13
F Holz, S Plenzig, H Held, M A Verhoff, C G Birngruber
BACKGROUND: Trisomy 21 is the most common human chromosomal abnormality. Its manifestation includes intellectual impairment and more or less typical anatomical malformations and functional deficiencies that can cause sudden or unexpected deaths. Typical medicolegal questions at autopsy are related to medical malpractice, improper care, neglect, or abuse, and, depending on the cause of death, whether the death might have been avoidable. The aim of this study was to examine whether the causes of death in individuals with trisomy 21 were linked to the known health risks for this condition and to consider how these deaths might have been prevented...
February 22, 2019: Forensic Science International
https://read.qxmd.com/read/30851597/perceived-childhood-adversities-impact-of-childhood-trauma-to-estimated-intellectual-functioning-of-individuals-with-bipolar-disorder
#14
Dayane Santos Martins, Mathias Hasse-Sousa, Carolina Petry-Perin, Raissa Telesca Arrial-Cordeiro, Francisco Diego Rabelo-da-Ponte, Flavia Moreira Lima, Adriane Ribeiro Rosa, Joana Bücker, Clarissa S Gama, Letícia Sanguinetti Czepielewski
Maltreatments in childhood may have implications for neurodevelopment that could remain throughout life. Childhood trauma seems to be associated with the onset of bipolar disorder (BD), and its occurrence might accentuate the overall disease impairments related to cognitive deficits in BD. We aimed to evaluate the effects of a history of childhood trauma to estimated intellectual functioning (IQ) of individuals with BD. We included 72 subjects with BD during euthymia. Participants underwent a clinical interview and were assessed through the Childhood Trauma Questionnaire (CTQ) and Wechsler Abbreviated Scale of Intelligence (WASI)...
February 20, 2019: Psychiatry Research
https://read.qxmd.com/read/30844509/evolution-of-the-rho-guanine-nucleotide-exchange-factors-kalirin-and-trio-and-their-gene-expression-in-xenopus-development
#15
Marie-Claire Kratzer, Laura England, David Apel, Monika Hassel, Annette Borchers
Guanine nucleotide exchange factors (GEFs) activate Rho GTPases by accelerating their GDP/GTP exchange. Trio and its paralog Kalirin (Kalrn) are unique members of the Rho-GEFs that harbor three catalytic domains: two functional GEF domains and a serine/threonine kinase domain. The N-terminal GEF domain activates Rac1 and RhoG GTPases, while the C-terminal GEF domain acts specifically on RhoA. Trio and Kalrn have an evolutionary conserved function in morphogenetic processes including neuronal development. De novo mutations in TRIO have lately been identified in patients with intellectual disability, suggesting that this protein family plays an important role in development and disease...
March 4, 2019: Gene Expression Patterns: GEP
https://read.qxmd.com/read/30842726/an-iqsec2-mutation-associated-with-intellectual-disability-and-autism-results-in-decreased-surface-ampa-receptors
#16
Eli J Rogers, Reem Jada, Kinneret Schragenheim-Rozales, Megha Sah, Marisol Cortes, Matthew Florence, Nina S Levy, Rachel Moss, Randall S Walikonis, Raz Palty, Reut Shalgi, Daniela Lichtman, Alexandra Kavushansky, Nashaat Z Gerges, Itamar Kahn, George K E Umanah, Andrew P Levy
We have recently described an A350V mutation in IQSEC2 associated with intellectual disability, autism and epilepsy. We sought to understand the molecular pathophysiology of this mutation with the goal of developing targets for drug intervention. We demonstrate here that the A350V mutation results in interference with the binding of apocalmodulin to the IQ domain of IQSEC2. We further demonstrate that this mutation results in constitutive activation of the guanine nucleotide exchange factor (GEF) activity of IQSEC2 resulting in increased production of the active form of Arf6...
2019: Frontiers in Molecular Neuroscience
https://read.qxmd.com/read/30842647/elucidation-of-the-phenotypic-spectrum-and-genetic-landscape-in-primary-and-secondary-microcephaly
#17
Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Beatrice Oneda, Laura Gogoll, Silvia Azzarello-Burri, Frenny Sheth, Chaitanya Datar, Ishwar C Verma, Ratna Dua Puri, Marcella Zollino, Ruxandra Bachmann-Gagescu, Dunja Niedrist, Michael Papik, Joana Figueiro-Silva, Rahim Masood, Markus Zweier, Dennis Kraemer, Sharyn Lincoln, Lance Rodan, Sandrine Passemard, Séverine Drunat, Alain Verloes, Anselm H C Horn, Heinrich Sticht, Robert Steinfeld, Barbara Plecko, Beatrice Latal, Oskar Jenni, Reza Asadollahi, Anita Rauch
PURPOSE: Microcephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and genetic landscape of an unselected cohort of patients with microcephaly. METHODS: We performed clinical assessment, high-resolution chromosomal microarray analysis, exome sequencing, and functional studies in 62 patients (58% with primary microcephaly [PM], 27% with secondary microcephaly [SM], and 15% of unknown onset)...
March 7, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30838730/patient-with-anomalous-skin-pigmentation-expands-the-phenotype-of-arid2-loss-of-function-disorder-a-swi-snf-related-intellectual-disability
#18
Rohan Khazanchi, Carey A Ronspies, Scott C Smith, Lois J Starr
ARID2 loss-of-function is associated with a rare genetic disorder characterized in 14 reported patients to date. ARID2 encodes a member of the SWItch/sucrose non-fermentable chromatin remodeling complex. Other genes encoding subunits of this complex, such as ARID1A, ARID1B, and SMARCA2, are mutated in association with Coffin-Siris syndrome (CSS) and Nicolaides Baraitser syndrome (NCBRS) phenotypes. Previously reported ARID2 mutations manifested clinically with a CSS-like phenotype including intellectual disability, coarsened facial features, fifth toenail hypoplasia, and other recognizable dysmorphisms...
March 5, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30838033/identification-of-a-ercc5-c-2333t-c-l778p-variant-in-two-tunisian-siblings-with-mild-xeroderma-pigmentosum-phenotype
#19
Asma Chikhaoui, Sahar Elouej, Imen Nabouli, Meriem Jones, Arnaud Lagarde, Meriem Ben Rekaya, Olfa Messaoud, Yosr Hamdi, Mohamed Zghal, Valerie Delague, Nicolas Levy, Annachiara De Sandre-Giovannoli, Sonia Abdelhak, Houda Yacoub-Youssef
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles, premature skin aging, and susceptibility to develop cancers at an average age of eight. XP is an example of accelerated photo-aging. It is a genetically and clinically heterogeneous disease. Eight complementation groups have been described worldwide. In Tunisia, five groups have been already identified. In this work, we investigated the genetic etiology in a family with an atypically mild XP phenotype...
2019: Frontiers in Genetics
https://read.qxmd.com/read/30821060/a-comprehensive-diagnostic-approach-to-detect-underlying-causes-of-obesity-in-adults
#20
REVIEW
Eline S van der Valk, Erica L T van den Akker, Mesut Savas, Lotte Kleinendorst, Jenny A Visser, Mieke M Van Haelst, Arya M Sharma, Elisabeth F C van Rossum
Obesity is a worldwide growing problem. When confronted with obesity, many health care providers focus on direct treatment of the consequences of adiposity. We plead for adequate diagnostics first, followed by an individualized treatment. We provide experience-based and evidence-based practical recommendations (illustrated by clinical examples), to detect potential underlying diseases and contributing factors. Adult patients consulting a doctor for weight gain or obesity should first be clinically assessed for underlying diseases, such as monogenetic or syndromic obesity, hypothyroidism, (cyclic) Cushing syndrome, polycystic ovarian syndrome (PCOS), hypogonadism, growth hormone deficiency, and hypothalamic obesity...
March 1, 2019: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
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