keyword
https://read.qxmd.com/read/38536130/seizure-as-first-manifestation-of-hemolytic-uremic-syndrome-with-bacteremia-due-to-shiga-toxin-producing-escherichia-coli
#1
JOURNAL ARTICLE
Laura Schwartz, Jeffrey Riese
Hemolytic uremic syndrome (HUS) often causes neurologic symptoms, but they typically occur as a later symptom of the syndrome. In addition, the Shiga toxin- producing E. coli (STEC) which causes HUS rarely causes bacteremia. We present the case of a 10-year-old male with Smith-Magenis syndrome who was admitted to the hospital due to STEC gastroenteritis, who was initially improving with supportive care, and then subsequently developed fever and had multiple seizures which were different from his typical seizure semiology...
April 1, 2024: Rhode Island Medical Journal
https://read.qxmd.com/read/38431631/time-of-exposure-and-assessment-influence-the-mortality-induced-by-insecticides-against-metabolic-resistant-mosquitoes
#2
JOURNAL ARTICLE
Olukayode G Odufuwa, John Bradley, Safina Ngonyani, Ahmadi Bakari Mpelepele, Isaya Matanila, Joseph B Muganga, Rune Bosselmann, Ole Skovmand, Zawadi Mageni Mboma, Sarah Jane Moore
BACKGROUND: Increasing metabolic resistance in malaria vector mosquitoes resulted in the development of insecticide-treated nets (ITNs) with active ingredients (AI) that target them. Bioassays that accurately measure the mortality induced by these AIs on ITNs are needed. Mosquito metabolic enzyme expression follows a circadian rhythm. Thus, this study assessed (i) influence of the time of day of mosquito exposure and (ii) timing of assessment of mortality post exposure (24 and 72 h) to ITNs against vectors that are susceptible to pyrethroids and those with metabolic and knockdown resistance mechanisms...
March 2, 2024: Parasites & Vectors
https://read.qxmd.com/read/38390945/rab11a-controls-cell-shape-via-c9orf72-protein-possible-relationships-to-frontotemporal-dementia-amyotrophic-lateral-sclerosis-ftdals-type-1
#3
JOURNAL ARTICLE
Shoya Fukatsu, Hinami Sashi, Remina Shirai, Norio Takagi, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto, Junji Yamauchi
Abnormal nucleotide insertions of C9orf72, which forms a complex with Smith-Magenis syndrome chromosomal region candidate gene 8 (SMCR8) protein and WD repeat-containing protein 41 (WDR41) protein, are associated with an autosomal-dominant neurodegenerative frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 (FTDALS1). The differentially expressed in normal and neoplastic cells (DENN) domain-containing C9orf72 and its complex with SMCR8 and WDR41 function as a guanine-nucleotide exchange factor for Rab GTP/GDP-binding proteins (Rab GEF, also called Rab activator)...
February 9, 2024: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://read.qxmd.com/read/38388889/expanding-the-clinical-and-genetic-landscape-of-developmental-epileptic-encephalopathy-with-spike-and-wave-activation-in-sleep-results-from-studies-of-a-turkish-cohort
#4
JOURNAL ARTICLE
Ayberk Türkyılmaz, Safiye Güneş Sağer, Emine Tekin, Kerem Teralı, Hanife Düzkalır, Metin Eser, Yasemin Akın
The terms developmental epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) designate a spectrum of conditions that are typified by different combinations of motor, cognitive, language, and behavioral regression linked to robust spike-and-wave activity during sleep. In this study, we aimed at describing the clinical and molecular findings in "(developmental) epileptic encephalopathy with spike-and-wave activation in sleep" (D)EE-SWAS) patients as well as at contributing to the genetic etiologic spectrum of (D)EE-SWAS...
February 22, 2024: Neurogenetics
https://read.qxmd.com/read/38385826/low-grade-parental-gonosomal-mosaicism-in-chd2-siblings-with-smith-magenis-like-syndrome
#5
JOURNAL ARTICLE
Francesca Cogliati, Letizia Straniero, Valeria Rimoldi, Maura Masciadri, Sara Perego, Berardo Rinaldi, Donatella Milani, Davide Gentilini, Lidia Larizza, Rosanna Asselta, Silvia Russo, Maria Francesca Bedeschi
Loss-of-function CHD2 (chromodomain helicase DNA-binding protein 2) mutations are associated with a spectrum of neurodevelopmental disorders often including early-onset generalized seizures, photosensitivity, and epileptic encephalopathies. Patients show psychomotor delay/intellectual disability (ID), autistic features, and behavior disorders, such as aggression and impulsivity. Most reported cases are sporadic with description of germline mosaicism only in two families. We detect the first case of parental gonosomal CHD2 mosaicism disclosed by two brothers showing mild ID, born to healthy parents...
February 22, 2024: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://read.qxmd.com/read/38324273/speech-language-hearing-and-otopathology-results-from-the-international-smith-magenis-syndrome-patient-registry
#6
JOURNAL ARTICLE
Christine Brennan, Mara Louise Smith, Rachael R Baiduc, Liam O'Connor
PURPOSE: Smith-Magenis syndrome (SMS), a rare, genetically linked complex developmental disorder caused by a deletion or mutation within chromosome 17p11.2, is associated with delays in speech-language development, otopathology, and hearing loss, yet previous studies lack comprehensive descriptions of hearing and communication profiles. Here, analyses of patient registry data expand what is known about speech, language, hearing, and otopathology in SMS. METHOD: International speech-language and hearing registry survey data for 82 individuals with SMS were analyzed using descriptive and inferential statistics...
February 7, 2024: Journal of Speech, Language, and Hearing Research: JSLHR
https://read.qxmd.com/read/38289192/comparative-analyses-of-the-smith-magenis-syndrome-protein-rai1-in-mice-and-common-marmoset-monkeys
#7
JOURNAL ARTICLE
Ya-Ting Chang, Yu-Ju Lee, Minza Haque, Hao-Cheng Chang, Sehrish Javed, Yu Cheng Lin, Yoobin Cho, Joseph Abramovitz, Gabriella Chin, Asma Khamis, Reesha Raja, Keith K Murai, Wei-Hsiang Huang
Retinoic acid-induced 1 (RAI1) encodes a transcriptional regulator critical for brain development and function. RAI1 haploinsufficiency in humans causes a syndromic autism spectrum disorder known as Smith-Magenis syndrome (SMS). The neuroanatomical distribution of RAI1 has not been quantitatively analyzed during the development of the prefrontal cortex, a brain region critical for cognitive function and social behaviors and commonly implicated in autism spectrum disorders, including SMS. Here, we performed comparative analyses to uncover the evolutionarily convergent and divergent expression profiles of RAI1 in major cell types during prefrontal cortex maturation in common marmoset monkeys (Callithrix jacchus) and mice (Mus musculus)...
January 2024: Journal of Comparative Neurology
https://read.qxmd.com/read/38277088/a-comprehensive-review-of-syndromic-forms-of-obesity-genetic-etiology-clinical-features-and-molecular-diagnosis
#8
REVIEW
Laura Machado Lara Carvalho, Alexander Augusto de Lima Jorge, Débora Romeo Bertola, Ana Cristina Victorino Krepischi, Carla Rosenberg
Syndromic obesity refers to obesity occurring with additional clinical findings, such as intellectual disability/developmental delay, dysmorphic features, and congenital malformations. PURPOSE OF REVIEW: To present a narrative review regarding the genetic etiology, clinical description, and molecular diagnosis of syndromic obesity, which is a rare condition with high phenotypic variability and genetic heterogeneity. The following syndromes are presented in this review: Prader-Willi, Bardet-Biedl, Pseudohypoparathyroidism, Alström, Smith-Magenis, Cohen, Temple, 1p36 deletion, 16p11...
January 26, 2024: Current Obesity Reports
https://read.qxmd.com/read/38135966/artificial-intelligence-procedure-for-the-screening-of-genetic-syndromes-based-on-voice-characteristics
#9
JOURNAL ARTICLE
Federico Calà, Lorenzo Frassineti, Elisabetta Sforza, Roberta Onesimo, Lucia D'Alatri, Claudia Manfredi, Antonio Lanata, Giuseppe Zampino
Perceptual and statistical evidence has highlighted voice characteristics of individuals affected by genetic syndromes that differ from those of normophonic subjects. In this paper, we propose a procedure for systematically collecting such pathological voices and developing AI-based automated tools to support differential diagnosis. Guidelines on the most appropriate recording devices, vocal tasks, and acoustical parameters are provided to simplify, speed up, and make the whole procedure homogeneous and reproducible...
November 29, 2023: Bioengineering
https://read.qxmd.com/read/38064514/als-linked-c9orf72-smcr8-complex-is-a-negative-regulator-of-primary-ciliogenesis
#10
JOURNAL ARTICLE
Dan Tang, Kaixuan Zheng, Jiangli Zhu, Xi Jin, Hui Bao, Lan Jiang, Huihui Li, Yichang Wang, Ying Lu, Jiaming Liu, Hang Liu, Chengbing Tang, Shijian Feng, Xiuju Dong, Liangting Xu, Yike Yin, Shangyu Dang, Xiawei Wei, Haiyan Ren, Biao Dong, Lunzhi Dai, Wei Cheng, Meihua Wan, Zhonghan Li, Jing Chen, Hong Li, Eryan Kong, Kunjie Wang, Kefeng Lu, Shiqian Qi
Massive GGGGCC (G4C2) repeat expansion in C9orf72 and the resulting loss of C9orf72 function are the key features of ~50% of inherited amyotrophic lateral sclerosis and frontotemporal dementia cases. However, the biological function of C9orf72 remains unclear. We previously found that C9orf72 can form a stable GTPase activating protein (GAP) complex with SMCR8 (Smith-Magenis chromosome region 8). Herein, we report that the C9orf72-SMCR8 complex is a major negative regulator of primary ciliogenesis, abnormalities in which lead to ciliopathies...
December 12, 2023: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/38019677/maternal-exercise-during-pregnancy-modulates-genotoxicity-caused-by-high-fructose-consumption-in-mice-offspring
#11
JOURNAL ARTICLE
Marina Lummertz Magenis, Adriani Paganini Damiani, Isadora de Oliveira Monteiro, Ligia Salvan Dagostin, Nicollas Dos Santos da Silva, Rahisa Scussel, Seigo Nagashima, Sabine A S Langie, Ricardo Aurino Pinho, Vanessa Moraes de Andrade
Pregnancy is a period that is characterized by several metabolic and physiological changes and requires special attention, especially with regard to the relationship between feeding and fetal development. Therefore, the objective of this study was to evaluate whether the practice of voluntary physical exercise in combination with chronic consumption of fructose from the beginning of life and/or until the gestational period causes genotoxic changes in pregnant females and in their offspring. 70 Swiss female mice received fructose in the hydration bottle and/or practiced voluntary physical exercise (VPE) for 8 weeks (pre-pregnancy/pregnancy)...
November 29, 2023: Mutagenesis
https://read.qxmd.com/read/38001870/melatonin-in-neurodevelopmental-disorders-a-critical-literature-review
#12
REVIEW
Cyrille Feybesse, Sylvie Chokron, Sylvie Tordjman
The article presents a review of the relationships between melatonin and neurodevelopmental disorders. First, the antioxidant properties of melatonin and its physiological effects are considered to understand better the role of melatonin in typical and atypical neurodevelopment. Then, several neurodevelopmental disorders occurring during infancy, such as autism spectrum disorder or neurogenetic disorders associated with autism (including Smith-Magenis syndrome, Angelman syndrome, Rett's syndrome, Tuberous sclerosis, or Williams-Beuren syndrome) and neurodevelopmental disorders occurring later in adulthood like bipolar disorder and schizophrenia, are discussed with regard to impaired melatonin production and circadian rhythms, in particular, sleep-wake rhythms...
November 20, 2023: Antioxidants (Basel, Switzerland)
https://read.qxmd.com/read/37994247/pentanucleotide-repeat-insertions-in-rai1-cause-benign-adult-familial-myoclonic-epilepsy-type-8
#13
JOURNAL ARTICLE
Patra Yeetong, Mohamed E Dembélé, Monnat Pongpanich, Lassana Cissé, Chalurmpon Srichomthong, Alassane B Maiga, Kékouta Dembélé, Adjima Assawapitaksakul, Salia Bamba, Abdoulaye Yalcouyé, Salimata Diarra, Samuel Ephrata Mefoung, Supphakorn Rakwongkhachon, Oumou Traoré, Siraprapa Tongkobpetch, Kenneth H Fischbeck, William A Gahl, Cheick O Guinto, Vorasuk Shotelersuk, Guida Landouré
BACKGROUND: Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in different genes, have been reported. However, several other BAFME cases remain with no molecular diagnosis. OBJECTIVES: We aim to characterize clinical features and identify the mutation causing BAFME in a large Malian family with 10 affected members. METHODS: Long-read whole genome sequencing, repeat-primed polymerase chain reaction and RNA studies were performed...
November 22, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37956053/smith-magenis-syndrome-protein-rai1-regulates-body-weight-homeostasis-through-hypothalamic-bdnf-producing-neurons-and-neurotrophin-downstream-signalling
#14
JOURNAL ARTICLE
Sehrish Javed, Ya-Ting Chang, Yoobin Cho, Yu-Ju Lee, Hao-Cheng Chang, Minza Haque, Yu Cheng Lin, Wei-Hsiang Huang
Retinoic acid-induced 1 ( RAI1 ) haploinsufficiency causes Smith-Magenis syndrome (SMS), a genetic disorder with symptoms including hyperphagia, hyperlipidemia, severe obesity, and autism phenotypes. RAI1 is a transcriptional regulator with a pan-neural expression pattern and hundreds of downstream targets. The mechanisms linking neural Rai1 to body weight regulation remain unclear. Here we find that hypothalamic brain-derived neurotrophic factor (BDNF) and its downstream signalling are disrupted in SMS ( Rai1+/- ) mice...
November 13, 2023: ELife
https://read.qxmd.com/read/37810798/the-developmental-trajectory-of-sleep-in-children-with-smith-magenis-syndrome-compared-to-typically-developing-peers-a-3-year-follow-up-study
#15
JOURNAL ARTICLE
Georgie Agar, Chris Oliver, Jayne Spiller, Caroline Richards
STUDY OBJECTIVES: To determine the trajectory of: (i) objective sleep parameters and (ii) caregiver-reported sleep questionnaire scores over 3 years in children with Smith-Magenis syndrome (SMS) compared to age-matched typically developing (TD) controls. We also aimed to (iii) describe individual profiles of change in sleep parameters over time. METHODS: Week-long, overnight actigraphy and questionnaire data from 13 children with SMS and 13 age-matched TD children were collected at Time 1 and Time 2 (3 years later)...
2023: Sleep advances: a journal of the Sleep Research Society
https://read.qxmd.com/read/37761412/metabolic-profile-of-patients-with-smith-magenis-syndrome-an-observational-study-with-literature-review
#16
JOURNAL ARTICLE
Clelia Cipolla, Linda Sessa, Giulia Rotunno, Giorgio Sodero, Francesco Proli, Chiara Veredice, Valentina Giorgio, Chiara Leoni, Jessica Rosati, Domenico Limongelli, Eliza Kuczynska, Elisabetta Sforza, Valentina Trevisan, Donato Rigante, Giuseppe Zampino, Roberta Onesimo
Background : Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the RAI1 gene and is marked by a distinct set of physical, developmental, neurological, and behavioral features. Hypercholesterolemia has been described in SMS, and obesity is also commonly found. Aim : To describe and characterize the metabolic phenotype of a cohort of SMS patients with an age range of 2.9-32.4 years and to evaluate any correlations between their body mass index and serum lipids, glycated hemoglobin (HbA1c), and basal insulin levels...
August 25, 2023: Children
https://read.qxmd.com/read/37756600/a-case-of-smith-magenis-syndrome-with-skin-manifestations-caused-by-a-novel-locus-mutation-in-the-rai1-gene
#17
JOURNAL ARTICLE
Xiaobin Wu, Li Zhang, Sisi Chen, Yanxi Li
We report the clinical features and genetic testing of a child with Smith-Magenis syndrome (SMS) to improve the understanding of this disease. The clinical data and molecular genetic test results of a child with SMS caused by a novel mutation in the retinoic acid-induced-1 (RAI1) gene were reviewed. A female patient aged 12 years and 9 months presented to the clinic because her mental and motor development was lagging behind that of her peers. The child had learning difficulties, poor motor coordination, temper tantrums, and self-injurious behaviors, such as skin scratching...
September 2023: Journal of International Medical Research
https://read.qxmd.com/read/37628566/intellectual-and-behavioral-phenotypes-of-smith-magenis-syndrome-comparisons-between-individuals-with-a-17p11-2-deletion-and-pathogenic-rai1-variant
#18
JOURNAL ARTICLE
Cathelijne C Linders, Agnies M van Eeghen, Janneke R Zinkstok, Marie-José van den Boogaard, Erik Boot
AIM: Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the RAI1 gene. SMS is associated with developmental delay, intellectual disability (ID), and major sleep and behavioral disturbances. To explore how genetic variants may affect intellectual functioning and behavior, we compared intellectual and behavioral phenotypes between individuals with a 17p11.2 deletion and pathogenic RAI1 variant. METHOD: We reviewed available clinical records from individuals (aged 0-45 years) with SMS, ascertained through a Dutch multidisciplinary SMS specialty clinic...
July 25, 2023: Genes
https://read.qxmd.com/read/37584268/psychiatric-and-neurological-manifestations-in-adults-with-smith-magenis-syndrome-a-scoping-review
#19
REVIEW
Dorinde Korteling, Jiska L I Musch, Janneke R Zinkstok, Erik Boot
Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder caused by a 17p11.2 deletion or a pathogenic variant of the RAI1 gene, which lies within the 17p11.2 region. Various psychiatric and neurological disorders have been reported in SMS, with most literature focusing on children and adolescents. To provide an overview of the current knowledge on this topic in adults with SMS, we performed a comprehensive scoping review of the relevant literature. Our findings suggest that many manifestations that are common in childhood persist into adulthood...
August 16, 2023: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://read.qxmd.com/read/37525497/pathogenesis-underlying-hexanucleotide-repeat-expansions-in-c9orf72-gene-in-amyotrophic-lateral-sclerosis
#20
REVIEW
Zhao Zhong Chong, Daniel L Menkes, Nizar Souayah
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and fatal neurodegenerative disorder. Mutations in C9orf72 and the resulting hexanucleotide repeat (GGGGCC) expansion (HRE) has been identified as a major cause of familial ALS, accounting for about 40 % of familial and 6 % of sporadic cases of ALS in Western patients. The pathological outcomes of HRE expansion in ALS have been recognized as the results of two mechanisms that include both the toxic gain-of-function and loss-of-function of C9ORF72...
August 2, 2023: Reviews in the Neurosciences
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