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https://www.readbyqxmd.com/read/30090155/unilateral-cerebral-atrophy-severe-neuroimaging-feature-of-incontinentia-pigmenti-without-acute-encephalopathic-state
#1
Debopam Samanta
Incontinentia pigmenti (IP) is a rare X-linked multisystem disease caused because of mutation in the IKBKG (inhibitor of kappa-B kinase gamma, previously NEMO ) gene. Involvement of central nervous system is seen in approximately one-third of these patients. Ischemic strokes, symptomatic seizures, and encephalopathy can be seen during neonatal or early infancy age group. Typically, early bilateral brain involvement is seen with periventricular white matter injury, hemorrhagic infarction, and multifocal cortical injury...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30090134/tip-of-the-iceberg-forme-fruste-tuberous-sclerosis-in-a-child
#2
Sarah G K Engel, Sonal Bhatia
Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by dermatologic manifestations and growth of multiple benign tumors often involving the brain, skin, kidneys, heart, lungs, and liver. It exhibits wide phenotypic variation, ranging from the most severe cases with intellectual disability and intractable epilepsy to the mildest, clinically silent forms of the disease. The incidence of TSC is reported to be 1/6000; however, this does not account for those with milder forms of the disease, of which forme fruste is the mildest...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30088852/a-comprehensive-clinical-and-genetic-study-in-127-patients-with-id-in-kinshasa-dr-congo
#3
Aimé Lumaka, Valerie Race, Hilde Peeters, Anniek Corveleyn, Zeynep Coban-Akdemir, Shalini N Jhangiani, Xiaofei Song, Gerrye Mubungu, Jennifer Posey, James R Lupski, Joris R Vermeesch, Prosper Lukusa, Koenraad Devriendt
Pathogenic variants account for 4 to 41% of patients with intellectual disability (ID) or developmental delay (DD). In Sub-Saharan Africa, the prevalence of ID is thought to be higher, but data in Central Africa are limited to some case reports. In addition, clinical descriptions of some syndromes are not available for this population. This study aimed at providing an estimate for the fraction of ID/DD for which an underlying etiological genetic cause may be elucidated and provide insights into their clinical presentation in special institutions in a Central African country...
August 8, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30088696/review-of-molecular-mechanisms-at-distal-xq28-leading-to-balanced-or-unbalanced-genomic-rearrangements-and-their-phenotypic-impacts-on-hemophilia
#4
REVIEW
N Lannoy, C Hermans
The distal Xq28 region is very gene-rich, comprising a relatively large number of low-copy repeats (LCRs) predisposing to genomic rearrangements. The best-known rearrangement at this locus is the F8 intron 22 inversion, responsible for up to 45% of severe hemophilia A (HA) cases. An additional inversion of intron 1 of F8 has more recently been described, affecting 2%-5% of patients with severe HA. These "balanced" rearrangements are mediated by intrachromosomal homologous recombination between inversely oriented LCRs located in intron 1 or 22 and other extragenic copies positioned more telomerically outside the F8 gene...
August 8, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30080117/-%C3%AF-neuropsychiatric-manifestations-in-tuberous-sclerosis-complex-tsc-diagnostic-guidelines-tand-concept-and-therapy-with-mtor-inhibitors%C3%AF
#5
Robert Waltereit, Martha Feucht, Magdalena C de Vries, Julia Huemer, Veit Roessner, Petrus J de Vries
Neuropsychiatric manifestations in Tuberous Sclerosis Complex (TSC): diagnostic guidelines, TAND concept and therapy with mTOR inhibitors Abstract. Tuberous sclerosis complex (TSC), albeit a rare autosomal-dominant multisystem disease with an incidence of 1:6,000, is one of the most important monogenetic disorders in child and adolescent psychiatry. In up to 90 % of patients, neurological disorders such as epilepsy and psychiatric disorders such as autism spectrum disorder, ADHD, affective disorders, and intellectual disability are observed...
August 6, 2018: Zeitschrift Für Kinder- und Jugendpsychiatrie und Psychotherapie
https://www.readbyqxmd.com/read/30079490/mutations-in-wdr4-as-a-new-cause-of-galloway-mowat-syndrome
#6
Daniela A Braun, Shirlee Shril, Aditi Sinha, Ronen Schneider, Weizhen Tan, Shazia Ashraf, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J Majmundar, Ankana Daga, Jillian K Warejko, Makiko Nakayama, David Schapiro, Jing Chen, Merlin Airik, Jia Rao, Johanna Magdalena Schmidt, Charlotte A Hoogstraten, Hannah Hugo, Jitendra Meena, Monkol Lek, Kristen M Laricchia, Arvind Bagga, Friedhelm Hildebrandt
Galloway-Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease, manifesting with proteinuria. To identify additional monogenic disease causes, we here performed whole exome sequencing (WES), linkage analysis, and homozygosity mapping in three affected siblings of an Indian family with GAMOS. Applying established criteria for variant filtering, we identify a novel homozygous splice site mutation in the gene WDR4 as the likely disease-causing mutation in this family...
August 6, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30076536/intestinal-obstruction-as-a-cause-of-death-in-the-mentally-disabled
#7
Danica Cvetković, Vladimir Živković, Irina Damjanjuk, Slobodan Nikolić
Two cases of intestinal obstruction in the mentally disabled are reported. The first case concerns 61-year-old oligophrenic woman who resided in a nursing home, where she was found hypotensive and unresponsive. Upon opening the peritoneal cavity at autopsy, extremely dilated (measuring on average 12 cm in diameter) loops of the colon emerged- they compressed the small intestine and other intraperitoneal organs, lifting both hemidiaphragms deep into the pleural cavity. Lodged firmly into the rectum, a partly disintegrated sanitary pad was found...
August 4, 2018: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/30066513/les-aidants-familiaux-de-jeunes-patients-atteints-de-maladies-neurologiques-chroniques-lors-de-la-transition-entre-secteur-p%C3%A3-diatrique-et-prise-en-charge-en-milieu-adulte%C3%A2-%C3%A3-tude-observationnelle-de-l-aidant-familial-principal
#8
Elodie Manzato Sadki, David Grabli, Emmanuel Flamand Roze, Michel Baulac, Julie Bourmaleau, Sandrine Lefebvre
Introduction / Context: The transition of young patients from pediatric to adult departments is a critical period with high risks of interruption of the care circuits, thus justifying the implementation of transition programs. This period is also difficult for caregivers, more particularly the main family caregiver. This study addresses the impact of this transition upon the family caregivers of young adults suffering from chronic neurological diseases. OBJECTIVES: To identify the main family caregivers, their profile, and to evaluate their implication and feelings in terms of burden at the time of the transition...
July 12, 2018: Recherche en Soins Infirmiers
https://www.readbyqxmd.com/read/30065653/current-trends-and-challenges-in-the-clinical-translation-of-nanoparticulate-nanomedicines-pathways-for-translational-development-and-commercialization
#9
REVIEW
Susan Hua, Maria B C de Matos, Josbert M Metselaar, Gert Storm
The use of nanotechnology in medicine has the potential to have a major impact on human health for the prevention, diagnosis, and treatment of diseases. One particular aspect of the nanomedicine field which has received a great deal of attention is the design and development of nanoparticulate nanomedicines (NNMs) for drug delivery (i.e., drug-containing nanoparticles). NNMs are intended to deliver drugs via various mechanisms: solubilization, passive targeting, active targeting, and triggered release. The NNM approach aims to increase therapeutic efficacy, decrease the therapeutically effective dose, and/or reduce the risk of systemic side effects...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/30063093/pulmonary-hypertension-in-patients-with-9q34-3-microdeletion-associated-kleefstra-syndrome
#10
Volkan Okur, Shannon Nees, Wendy K Chung, Usha Krishnan
Kleefstra Syndrome is a rare genetic disorder caused by mutations in EHMT1, Euchromatin Histone Methyl Transferase 1, or deletions encompassing EHMT1 on 9q34.3. Congenital heart defects are among the major findings in patients with 9q34.3 microdeletion/Kleefstra Syndrome along with recognizable facial appearance, developmental delay/intellectual disability including severely delayed or absent speech, hypotonia, seizures, behavioral and sleep abnormalities. Pulmonary hypertension (PH) is a rare condition associated with increased pulmonary artery and right heart pressures that can lead to right heart failure and death if untreated...
July 31, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30061744/isoform-selective-phosphoinositide-3-kinase-inhibition-ameliorates-a-broad-range-of-fragile-x-syndrome-associated-deficits-in-a-mouse-model
#11
Christina Gross, Anwesha Banerjee, Durgesh Tiwari, Francesco Longo, Angela R White, A G Allen, Lindsay M Schroeder-Carter, Joseph C Krzeski, Nada A Elsayed, Rosemary Puckett, Eric Klann, Ralph A Rivero, Shannon L Gourley, Gary J Bassell
Defects in the phosphoinositide 3-kinase (PI3K) pathway are shared characteristics in several brain disorders, including the inherited intellectual disability and autism spectrum disorder, fragile X syndrome (FXS). PI3K signaling therefore could serve as a therapeutic target for FXS and other brain disorders. However, broad inhibition of such a central signal transduction pathway involved in essential cellular functions may produce deleterious side effects. Pharmacological strategies that selectively correct the overactive components of the PI3K pathway while leaving other parts of the pathway intact may overcome these challenges...
July 13, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/30057029/de-novo-variants-in-the-f-box-protein-fbxo11-in-20-individuals-with-a-variable-neurodevelopmental-disorder
#12
Anne Gregor, Lynette G Sadleir, Reza Asadollahi, Silvia Azzarello-Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange-Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M A Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martinez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Monica Rosello, Ken Saida, Avni B Santani, Ajoy Sarkar, Ingrid E Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D Symonds, Elaine H Zackai, André Reis, Heinrich Sticht, Christiane Zweier
Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically extremely heterogeneous entities such as neurodevelopmental disorders (NDDs). Through exome sequencing and world-wide collaborations, we identified and assembled 20 individuals with de novo variants in FBXO11. They present with mild to severe developmental delay associated with a range of features including short (4/20) or tall (2/20) stature, obesity (5/20), microcephaly (4/19) or macrocephaly (2/19), behavioral problems (17/20), seizures (5/20), cleft lip or palate or bifid uvula (3/20), and minor skeletal anomalies...
August 2, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30053424/the-psychiatric-cell-map-initiative-a-convergent-systems-biological-approach-to-illuminating-key-molecular-pathways-in-neuropsychiatric-disorders
#13
REVIEW
A Jeremy Willsey, Montana T Morris, Sheng Wang, Helen R Willsey, Nawei Sun, Nia Teerikorpi, Tierney B Baum, Gerard Cagney, Kevin J Bender, Tejal A Desai, Deepak Srivastava, Graeme W Davis, Jennifer Doudna, Edward Chang, Vikaas Sohal, Daniel H Lowenstein, Hao Li, David Agard, Michael J Keiser, Brian Shoichet, Mark von Zastrow, Lennart Mucke, Steven Finkbeiner, Li Gan, Nenad Sestan, Michael E Ward, Ruth Huttenhain, Tomasz J Nowakowski, Hugo J Bellen, Loren M Frank, Mustafa K Khokha, Richard P Lifton, Martin Kampmann, Trey Ideker, Matthew W State, Nevan J Krogan
Although gene discovery in neuropsychiatric disorders, including autism spectrum disorder, intellectual disability, epilepsy, schizophrenia, and Tourette disorder, has accelerated, resulting in a large number of molecular clues, it has proven difficult to generate specific hypotheses without the corresponding datasets at the protein complex and functional pathway level. Here, we describe one path forward-an initiative aimed at mapping the physical and genetic interaction networks of these conditions and then using these maps to connect the genomic data to neurobiology and, ultimately, the clinic...
July 26, 2018: Cell
https://www.readbyqxmd.com/read/30051577/increased-transport-of-acetyl-coa-into-the-endoplasmic-reticulum-causes-a-progeria-like-phenotype
#14
Yajing Peng, Samantha L Shapiro, Varuna C Banduseela, Inca A Dieterich, Kyle J Hewitt, Emery H Bresnick, Guangyao Kong, Jing Zhang, Kathryn L Schueler, Mark P Keller, Alan D Attie, Timothy A Hacker, Ruth Sullivan, Elle Kielar-Grevstad, Sebastian I Arriola Apelo, Dudley W Lamming, Rozalyn M Anderson, Luigi Puglielli
The membrane transporter AT-1/SLC33A1 translocates cytosolic acetyl-CoA into the lumen of the endoplasmic reticulum (ER), participating in quality control mechanisms within the secretory pathway. Mutations and duplication events in AT-1/SLC33A1 are highly pleiotropic and have been linked to diseases such as spastic paraplegia, developmental delay, autism spectrum disorder, intellectual disability, propensity to seizures, and dysmorphism. Despite these known associations, the biology of this key transporter is only beginning to be uncovered...
July 27, 2018: Aging Cell
https://www.readbyqxmd.com/read/30050666/undernutrition-and-morbidity-profile-of-exclusively-breastfeeding-children-a-cross-sectional-study
#15
Sumon Chandra Debnath, Md Ekramul Haque, Dewan Md Mehedi Hasan, Sharraf Samin, Md Abdur Rouf, Md Fazlay Rabby
Background: Undernutrition is common and has been recognized as a public health problem in Bangladesh. It has devastating effects on any population as it increases morbidity children and reduces the quality of life of all affected. The study was done with the objective to assess the undernutrition and morbidity profile in children who have completed exclusive breastfeeding. Methods: This was a descriptive cross-sectional study, which was carried out among children aged 6-12 completed months attending a tertiary level hospital in Bangladesh...
2018: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/30043821/selenium-enriched-yeast-inhibited-%C3%AE-amyloid-production-and-modulated-autophagy-in-a-triple-transgenic-mouse-model-of-alzheimer-s-disease
#16
Guo-Li Song, Chen Chen, Qiu-Yan Wu, Zhong-Hao Zhang, Rui Zheng, Yao Chen, Shi-Zheng Jia, Jia-Zuan Ni
As the most common cause of progressive intellectual failure in elderly humans, Alzheimer's disease (AD) is pathologically featured by amyloid plaques, synaptic loss, and neurofibrillary tangles. The amyloid plaques are mainly aggregates of amyloid β-peptide (Aβ), a primary factor contributing to the pathogenesis of AD. Elimination or reduction of the level of Aβ is considered an important strategy in AD treatment. The pharmacotherapeutic efficacy of selenium (Se), an essential biological trace element for mammalian species, has been confirmed in a number of experimental models of neurodegenerative diseases...
July 25, 2018: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/30043187/the-genotypic-spectrum-of-aldh7a1-mutations-resulting-in-pyridoxine-dependent-epilepsy-a-common-epileptic-encephalopathy
#17
Curtis R Coughlin, Michael A Swanson, Elaine Spector, Naomi J L Meeks, Kathryn E Kronquist, Mezhgan Aslamy, Michael F Wempe, Clara D M van Karnebeek, Sidney M Gospe, Verena G Aziz, Becky P Tsai, Hanlin Gao, Peter L Nagy, Keith Hyland, Silvy J M van Dooren, Gajja S Salomons, Johan L K Van Hove
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and developmental delay. Current treatment paradigms have resulted in improved cognitive outcomes emphasizing the importance of an early diagnosis. As genetic testing is increasingly accepted as first tier testing for epileptic encephalopathies, we aimed to provide a comprehensive overview of ALDH7A1 mutations that cause PDE...
July 24, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/30042911/does-obesity-increase-the-risk-of-dementia-a-literature-review
#18
REVIEW
Ibrar Anjum, Muniba Fayyaz, Abdullah Wajid, Wafa Sohail, Asad Ali
Obesity and dementia are both associated with an increased risk of Alzheimer's disease (AD), and underlying neurodegenerative changes. Review articles provide evidential support that obesity and dementia result in an early old-age memory crisis. Obesity triggering vascular dementia decreases not only blood supply to the brain, but also increases fat cells that damage the brain white matter leading to loss of cognitive and intellectual behaviour. Adipocyte-secreted proteins and inflammatory cytokines explain the association between obesity and increased risk of dementia...
May 21, 2018: Curēus
https://www.readbyqxmd.com/read/30038395/predicting-the-clinical-impact-of-human-mutation-with-deep-neural-networks
#19
Laksshman Sundaram, Hong Gao, Samskruthi Reddy Padigepati, Jeremy F McRae, Yanjun Li, Jack A Kosmicki, Nondas Fritzilas, Jörg Hakenberg, Anindita Dutta, John Shon, Jinbo Xu, Serafim Batzloglou, Xiaolin Li, Kyle Kai-How Farh
Millions of human genomes and exomes have been sequenced, but their clinical applications remain limited due to the difficulty of distinguishing disease-causing mutations from benign genetic variation. Here we demonstrate that common missense variants in other primate species are largely clinically benign in human, enabling pathogenic mutations to be systematically identified by the process of elimination. Using hundreds of thousands of common variants from population sequencing of six non-human primate species, we train a deep neural network that identifies pathogenic mutations in rare disease patients with 88% accuracy and enables the discovery of 14 new candidate genes in intellectual disability at genome-wide significance...
July 23, 2018: Nature Genetics
https://www.readbyqxmd.com/read/30032983/mutations-in-lnpk-encoding-the-endoplasmic-reticulum-junction-stabilizer-lunapark-cause-a-recessive-neurodevelopmental-syndrome
#20
Martin W Breuss, An Nguyen, Qiong Song, Thai Nguyen, Valentina Stanley, Kiely N James, Damir Musaev, Guoliang Chai, Sara A Wirth, Paula Anzenberg, Renee D George, Anide Johansen, Shaila Ali, Muhammad Zia-Ur-Rehman, Tipu Sultan, Maha S Zaki, Joseph G Gleeson
The dynamic shape of the endoplasmic reticulum (ER) is a reflection of its wide variety of critical cell biological functions. Consequently, perturbation of ER-shaping proteins can cause a range of human phenotypes. Here, we describe three affected children (from two consanguineous families) who carry homozygous loss-of-function mutations in LNPK (previously known as KIAA1715); this gene encodes lunapark, which is proposed to serve as a curvature-stabilizing protein within tubular three-way junctions of the ER...
August 2, 2018: American Journal of Human Genetics
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