keyword
https://read.qxmd.com/read/38531017/clinical-characteristics-developmental-trajectory-and-caregiver-burden-of-patients-with-creatine-transporter-deficiency-slc6a8
#1
JOURNAL ARTICLE
Aurore Curie, Laurence Lion-François, Vassili Valayannopoulos, Nathalie Perreton, Marie Gavanon, Nathalie Touil, Amandine Brun-Laurisse, Fahra Gheurbi, Marion Buchy, Hulya Halep, David Cheillan, Catherine Mercier, Anaïs Brassier, Béatrice Desnous, Behrouz Kassai, Pascale De Lonlay, Vincent Des Portes
BACKGROUND AND OBJECTIVES: Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease on caregivers to identify relevant endpoints for future therapeutic trials. METHODS: As part of a French National Research Program, patients with CTD were included based on (1) a pathogenic SLC6A8 variant and (2) ID and/or autism spectrum disorder...
April 23, 2024: Neurology
https://read.qxmd.com/read/38528593/a-novel-large-intragenic-dpyd-deletion-causing-dihydropyrimidine-dehydrogenase-deficiency-a-case-report
#2
JOURNAL ARTICLE
Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P Petrou
BACKGROUND: Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder. The clinical spectrum of affected individuals is wide ranging from asymptomatic to severely affected patients presenting with intellectual disability, motor retardation, developmental delay and seizures. DPD is also important as the main enzyme in the catabolism of 5-fluorouracil (5-FU) which is extensively used as a chemotherapeutic agent...
March 25, 2024: BMC Medical Genomics
https://read.qxmd.com/read/38527507/-analysis-of-9-patients-with-adolescence-onset-methylenetetrahydrofolate-reductase-deficiency
#3
JOURNAL ARTICLE
H T Zhang, X Ma, Y Jin, M Q Li, J Q Song, Z H Chen, Y Liu, X P Lu, H Zheng, Y L Yang
Objective: To explore the diagnosis and treatment of adolescence-onset methylenetetrahydrofolate reductase (MTHFR) deficiency. Methods: This was a retrospective case study. Nine patients with adolescence-onset MTHFR deficiency were diagnosed at Peking University First Hospital from January 2016 to December 2022, and followed up for more than 1 year. Their general information, clinical manifestations, laboratory tests, cranial images, MTHFR gene variants, diagnosis, treatment, and outcome were analyzed retrospectively...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38524542/clinical-and-genetic-analysis-of-trichohepatoneurodevelopmental-syndrome-caused-by-a-ccdc47-variant
#4
JOURNAL ARTICLE
Qi Yang, Xunzhao Zhou, Yeying Ling, Qiang Zhang, Shang Yi, Qiuli Chen, Shujie Zhang, Zailong Qin, Jingsi Luo
Trichohepatoneurodevelopmental syndrome is an extremely uncommon autosomal recessive disorder resulting from variants in the CCDC47 gene, which encodes a Ca2+ -binding endoplasmic reticulum (ER) transmembrane protein. To date, only four patients with CCDC47 deficiency have been reported, all of them with homozygous truncating CCDC47 variants. For this study, a Chinese family was recruited, which included a patient diagnosed with trichohepatoneurodevelopmental syndrome. Whole exome sequencing (WES) identified the proband's novel homozygous CCDC47 variation (NM_020198: c...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38521028/pcdh19-clustering-epilepsy-pathophysiology-and-clinical-significance
#5
REVIEW
Safoura Kowkabi, Majid Yavarian, Reza Kaboodkhani, Mahmood Mohammadi, Reza Shervin Badv
PCDH19 clustering epilepsy (PCDH19-CE) is an X-linked epilepsy disorder associated with intellectual disability (ID) and behavioral disturbances, which is caused by PCDH19 gene variants. PCDH19 pathogenic variant leads to epilepsy in heterozygous females, not in hemizygous males and the inheritance pattern is unusual. The hypothesis of cellular interference was described as a key pathogenic mechanism. According to that, males do not develop the disease because of the uniform expression of PCDH19 (variant or wild type) unless they have a somatic variation...
March 22, 2024: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/38516404/the-evaluation-of-inherited-metabolic-diseases-presenting-with-rhabdomyolysis-from-turkey-single-center-experience
#6
JOURNAL ARTICLE
Huseyin Bilgin, Ayse Ergul Bozaci
AIM: It was aimed to identify markers that would indicate which cases presenting with rhabdomyolysis are more likely to be associated with inherited metabolic diseases. METHODS: We analyzed 327 children who applied to our Hospital Pediatric Nutrition and Metabolic Diseases Clinic with rhabdomyolysis. The diagnosis of rhabdomyolysis was made by measuring the serum creatinine kinase level in cases presenting with muscle pain, weakness and dark urine. RESULTS: Metabolic disease was detected in 29 (16/13, M/F) patients from 26 different families...
June 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/38514794/the-cb-1-receptor-interacts-with-cereblon-and-drives-cereblon-deficiency-associated-memory-shortfalls
#7
JOURNAL ARTICLE
Carlos Costas-Insua, Alba Hermoso-López, Estefanía Moreno, Carlos Montero-Fernández, Alicia Álvaro-Blázquez, Irene B Maroto, Andrea Sánchez-Ruiz, Rebeca Diez-Alarcia, Cristina Blázquez, Paula Morales, Enric I Canela, Vicent Casadó, Leyre Urigüen, Gertrudis Perea, Luigi Bellocchio, Ignacio Rodríguez-Crespo, Manuel Guzmán
Cereblon/CRBN is a substrate-recognition component of the Cullin4A-DDB1-Roc1 E3 ubiquitin ligase complex. Destabilizing mutations in the human CRBN gene cause a form of autosomal recessive non-syndromic intellectual disability (ARNSID) that is modelled by knocking-out the mouse Crbn gene. A reduction in excitatory neurotransmission has been proposed as an underlying mechanism of the disease. However, the precise factors eliciting this impairment remain mostly unknown. Here we report that CRBN molecules selectively located on glutamatergic neurons are necessary for proper memory function...
March 21, 2024: EMBO Molecular Medicine
https://read.qxmd.com/read/38511331/early-embryogenesis-in-chdfidd-mouse-model-reveals-facial-clefts-and-altered-cranial-neurogenesis
#8
JOURNAL ARTICLE
Marek Hampl, Nela Jandova, Denisa Luskova, Monika Novakova, Tereza Szotkowska, Stepan Cada, Jan Prochazka, Jiri Kohoutek, Marcela Buchtova
Congenital heart defects, facial dysmorphism and intellectual development disorder (CHDFIDD) is associated with mutations in CDK13 gene, which encodes a transcription regulating Cyclin-dependent kinase 13 (CDK13). Here, we focused on development of craniofacial structures and analyzed early embryonic stages of CHDFIDD mouse models with hypomorphic mutation in Cdk13 gene, which exhibits cleft lip/palate and knockout of Cdk13 with stronger phenotype including midfacial cleft. Cdk13 was found to be physiologically strongly expressed in the mouse embryonic craniofacial structures, namely in the forebrain, nasal epithelium and maxillary mesenchyme...
March 21, 2024: Disease Models & Mechanisms
https://read.qxmd.com/read/38499656/microglial-over-pruning-of-synapses-during-development-in-autism-associated-scn2a-deficient-mice-and-human-cerebral-organoids
#9
JOURNAL ARTICLE
Jiaxiang Wu, Jingliang Zhang, Xiaoling Chen, Kyle Wettschurack, Zhefu Que, Brody A Deming, Maria I Olivero-Acosta, Ningren Cui, Muriel Eaton, Yuanrui Zhao, Sophia M Li, Matthew Suzuki, Ian Chen, Tiange Xiao, Manasi S Halurkar, Purba Mandal, Chongli Yuan, Ranjie Xu, Wendy A Koss, Dongshu Du, Fuxue Chen, Long-Jun Wu, Yang Yang
Autism spectrum disorder (ASD) is a major neurodevelopmental disorder affecting 1 in 36 children in the United States. While neurons have been the focus of understanding ASD, an altered neuro-immune response in the brain may be closely associated with ASD, and a neuro-immune interaction could play a role in the disease progression. As the resident immune cells of the brain, microglia regulate brain development and homeostasis via core functions including phagocytosis of synapses. While ASD has been traditionally considered a polygenic disorder, recent large-scale human genetic studies have identified SCN2A deficiency as a leading monogenic cause of ASD and intellectual disability...
March 18, 2024: Molecular Psychiatry
https://read.qxmd.com/read/38488524/disease-progression-in-sanfilippo-type-b-case-series-of-brazilian-patients
#10
JOURNAL ARTICLE
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-Dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression. Mean age at diagnosis was 7.2 years. Speech delay was one of the first symptoms to be identified, around 2-3 years of age. Behavioral alterations include hyperactivity and aggressiveness, starting around age four...
2024: Genetics and Molecular Biology
https://read.qxmd.com/read/38475840/differential-contribution-of-canonical-and-noncanonical-nlgn3-pathways-to-early-social-development-and-memory-performance
#11
JOURNAL ARTICLE
Lin-Yu Li, Ayako Imai, Hironori Izumi, Ran Inoue, Yumie Koshidaka, Keizo Takao, Hisashi Mori, Tomoyuki Yoshida
Neuroligin (NLGN) 3 is a postsynaptic cell adhesion protein organizing synapse formation through two different types of transsynaptic interactions, canonical interaction with neurexins (NRXNs) and a recently identified noncanonical interaction with protein tyrosine phosphatase (PTP) δ. Although, NLGN3 gene is known as a risk gene for neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability (ID), the pathogenic contribution of the canonical NLGN3-NRXN and noncanonical NLGN3-PTPδ pathways to these disorders remains elusive...
March 12, 2024: Molecular Brain
https://read.qxmd.com/read/38469090/clinical-and-biochemical-phenotypes-genotypes-and-long-term-outcomes-of-individuals-with-galactosemia-type-i-from-a-single-metabolic-genetics-center-in-alberta
#12
JOURNAL ARTICLE
Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews
BACKGROUND: Galactosemia type I is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase deficiency, encoded by GALT . To investigate the phenotypes, genotypes and long-term outcomes of galactosemia, we performed a retrospective cohort study in our center. METHODS: All individuals with galactosemia type I were included. We divided individuals into two groups to compare the outcomes of those treated symptomatically (SymX) and asymptomatically (AsymX)...
March 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/38469086/long-term-follow-up-in-gamt-deficiency-correlation-of-therapy-regimen-biochemical-and-in-vivo-brain-proton-mr-spectroscopy-data
#13
JOURNAL ARTICLE
Lara M Marten, Ralph Krätzner, Gajja S Salomons, Matilde Fernandez Ojeda, Peter Dechent, Jutta Gärtner, Peter Huppke, Steffi Dreha-Kulaczewski
GAMT deficiency is a rare autosomal recessive disease within the group of cerebral creatine deficiency syndromes. Cerebral creatine depletion and accumulation of guanidinoacetate (GAA) lead to clinical presentation with intellectual disability, seizures, speech disturbances and movement disorders. Treatment consists of daily creatine supplementation to increase cerebral creatine, reduction of arginine intake and supplementation of ornithine for reduction of toxic GAA levels. This study represents the first long-term follow-up over a period of 14 years, with detailed clinical data, biochemical and multimodal neuroimaging findings...
March 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/38462462/clinical-and-molecular-analyses-of-isolated-central-congenital-hypothyroidism-based-on-a-survey-conducted-in-japan
#14
JOURNAL ARTICLE
Nao Shibata, Chikahiko Numakura, Takashi Hamajima, Kenichi Miyako, Ikuma Fujiwara, Jun Mori, Akihiko Saitoh, Keisuke Nagasaki
Central congenital hypothyroidism (CH) can occur as an isolated deficiency or as part of combined pituitary hormone deficiency. Unlike primary CH, central CH cannot be detected by newborn screening (NBS) using dry filter paper blood TSH levels, and early diagnosis remains challenging. In this study, the clinical and genetic backgrounds of patients with isolated central CH were determined through a questionnaire-based survey among members of the Japanese Society for Pediatric Endocrinology. The known causes of isolated central CH were studied in 14 patients, including six with previously reported patient data...
March 8, 2024: Endocrine Journal
https://read.qxmd.com/read/38456468/the-clinical-and-genetic-spectrum-of-inherited-glycosylphosphatidylinositol-deficiency-disorders
#15
JOURNAL ARTICLE
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias de Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S de Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy McTague, Stephanie Efthymiou, Kshitij Mankad
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data. In this multinational retrospective observational study, we systematically analyse the molecular spectrum, phenotypic characteristics, and natural history of 83 individuals from 75 unique families with IGDs, including 70 newly reported individuals: the largest single cohort to date...
March 8, 2024: Brain
https://read.qxmd.com/read/38455622/normal-intellectual-ability-and-hyperprolactinemia-as-unique-clinical-manifestations-of-congenital-hypothyroidism-a-case-report-and-review-of-hypotheses
#16
JOURNAL ARTICLE
Putri O Zulfa, Maulina Debbyousha, Krishna W Sucipto, Agustia S Ekadamayanti, Sarah Firdausa, Hendra Zufry
Congenital hypothyroidism is the deficiency of thyroid hormone in infants and hyperprolactinemia is frequently observed. Previously reported cases typically involve intellectual disability, highlighting this particular unique case report to the first reported patient demonstrating normal intellectual ability despite experiencing growth and gonad dysfunction. This study aims to present a case and review medical hypotheses related to the patient's condition. A 19-year-old female presented with a chief complaint of irregular menstruation for up to 40 days or not occurring at all...
December 2023: Narra J
https://read.qxmd.com/read/38442846/clinical-manifestations-and-genetic-mutation-analysis-of-patients-with-mucopolysaccharidosis-type-vii-in-china
#17
JOURNAL ARTICLE
Xueying Su, Xiaoyuan Zhao, Xi Yin, Li Liu, Yonglan Huang, Chunhua Zeng, Xiuzhen Li, Wen Zhang
OBJECTIVE: This study aimed to explore the clinical and genetic features of Chinese patients with mucopolysaccharidosis type VII (MPS VII), thereby improving early detection, disease management, and patient outcomes. METHODS: A retrospective review of medical records for five patients presenting with coarse facial features, rib protrusion, chest deformities, and scoliosis was conducted. Exome sequencing was employed to identify causative genetic mutations. RESULTS: The study comprised five patients (four males, one female) with disease onset at six months of age (range: 0-1...
March 3, 2024: European Journal of Medical Genetics
https://read.qxmd.com/read/38426174/factors-associated-with-older-adults-cognitive-decline-6-months-after-gamma-variant-sars-cov-2-infection
#18
JOURNAL ARTICLE
Vanessa Giffoni M N P Peixoto, Lucas Alves Facci, Thiago C S Barbalho, Raíssa Nascimento Souza, Alice Mendes Duarte, Marina Bruxel Dos Santos, Katie Moraes Almondes
BACKGROUND: Cognitive deficits are commonly reported after COVID-19 recovery, but little is known in the older population. This study aims to investigate possible cognitive damage in older adults 6 months after contracting COVID-19, as well as individual risk factors. METHODS: This cross-sectional study involved 70 participants aged 60-78 with COVID-19 6 months prior and 153 healthy controls. Montreal Cognitive Assessment-Basic (MoCA-B) screened for cognitive impairment; Geriatric Depression Scale and Geriatric Anxiety Inventory screened for depression and anxiety...
2024: Frontiers in Neurology
https://read.qxmd.com/read/38419374/breaking-the-rules-of-slc6-transporters-export-of-the-human-creatine-transporter-1-from-the-endoplasmic-reticulum-is-supported-by-its-n-terminus
#19
JOURNAL ARTICLE
Didem Ün, Vasylyna Kovalchuk, Ali El-Kasaby, Ameya Kasture, Florian Koban, Oliver Kudlacek, Michael Freissmuth, Sonja Sucic
Mutations in the human creatine transporter 1 (CRT1/SLC6A8) cause the creatine transporter deficiency syndrome, which is characterized by intellectual disability, epilepsy, autism, and developmental delay. The vast majority of mutations cause protein misfolding and hence reduce cell surface expression. Hence, it is important to understand the molecular machinery supporting folding and export of CRT1 from the endoplasmic reticulum (ER). All other SLC6 members thus far investigated rely on a C-terminal motif for binding the COPII-component SEC24 to drive their ER export; their N-termini are dispensable...
February 28, 2024: Journal of Neurochemistry
https://read.qxmd.com/read/38411242/cdkl5-deficiency-disorder-some-lessons-learned-20-years-after-the-first-description
#20
JOURNAL ARTICLE
Elia M Pestana Knight, Heather E Olson
Loss of function variants in the Cyclin-dependent kinase-like 5 gene (CDKL5) causes CDKL5 deficiency disorder (CDD). Most cases of CDD are due to a de novo missense or truncating variants. The CDKL5 gene was discovered in 1998 as part of the genomic mapping of the chromosome Xp22 region that led to the discovery of the serine-threonine kinases STK9. Since then, there have been significant advancements in the description of the disease in humans, the understanding of the pathophysiology, and the management of the disease...
March 1, 2024: American Journal on Intellectual and Developmental Disabilities
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