keyword
https://read.qxmd.com/read/38536978/bilateral-retinal-venous-occlusion-in-atypical-hemolytic-uremic-syndrome-due-to-complement-factor-h-mutation
#1
JOURNAL ARTICLE
Saban Gonul, Serhat Eker
PURPOSE: Atypical hemolytic uremic syndrome (aHUS) is a rare progressive thrombotic microangiopathy caused by overactivation in the alternative complement pathway. A wide spectrum of environmental triggers, such as viruses, vaccination, drugs, pregnancy, neoplasms, transplant, and autoimmune diseases can cause aHUS in genetically susceptible individuals. In this report, the diagnosis and treatment process of aHUS and bilateral retinal venous occlusion (RVO) will be presented. METHODS: Single-case, retrospective management of ophthalmological and systemic manifestations...
March 27, 2024: Ocular Immunology and Inflammation
https://read.qxmd.com/read/38536952/familial-recurrence-of-incontinentia-pigmenti-due-to-de-novo-pathogenic-variants-in-the-ikbkg-gene
#2
Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj-Rabia, Fabienne Charbit-Henrion, Florence Petit
Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a multisystem disorder which associates specific skin lesions that evolves in four stages, and occasionally, central nervous system, eye, hair, and teeth involvement. Familial (35%) and sporadic (65%) cases are caused by pathogenic variants in the IKBKG gene. Here we report an unusual family, where, in two half-sisters affected by typical IP, molecular genetic analysis identified a likely pathogenic non-sense variant in the IKBKG gene of one of the sisters, the other being not a carrier...
March 27, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38535015/congenital-heart-defects-in-patients-with-molecularly-confirmed-sotos-syndrome
#3
JOURNAL ARTICLE
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects (HDs) in individuals with Sotos syndrome is estimated to be around 15-40%. Septal defects and patent ductus arteriosus are the most commonly diagnosed malformations, but complex defects have also been reported...
March 11, 2024: Diagnostics
https://read.qxmd.com/read/38534779/autosomal-recessive-rod-cone-dystrophy-with-mild-extra-ocular-manifestations-due-to-a-splice-affecting-variant-in-bbs9
#4
Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P M Cremers, Susanne Roosing, Tamar Ben-Yosef
Bardet-Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeletal abnormalities. We observed an Israeli patient with autosomal recessive apparently non-syndromic rod-cone dystrophy (RCD). Extra-ocular findings were limited to epilepsy and dental problems. Genetic analysis with a single molecule molecular inversion probes-based panel that targets the exons and splice sites of 113 genes associated with retinitis pigmentosa and Leber congenital amaurosis revealed a homozygous rare missense variant in the BBS9 gene (c...
March 18, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38534264/sebaceomas-in-a-muir-torre-like-phenotype-in-a-patient-with-mutyh-associated-polyposis
#5
Julia Guarrera, James C Prezzano, Kathleen A Mannava
This case report describes a case of a patient with MUTYH-associated polyposis (MAP), who presented with multiple sebaceomas in a Muir-Torre-like phenotype. MAP is caused by mutations in MUTYH, a base excision repair gene responsible for detecting and repairing the 8-oxo-G:A transversion caused by reactive oxygen species. MAP is associated with an increased risk of developing adenomatous polyps and colorectal cancer. Muir-Torre syndrome is a clinical phenotype of Lynch syndrome, which presents with multiple cutaneous sebaceous neoplasms...
March 4, 2024: Dermatopathology (Basel, Switzerland)
https://read.qxmd.com/read/38534090/autosomal-recessive-non-syndromic-hearing-loss-genes-in-pakistan-during-the-previous-three-decades
#6
REVIEW
Madiha Shadab, Ansar Ahmed Abbasi, Ahsan Ejaz, Afif Ben-Mahmoud, Vijay Gupta, Hyung-Goo Kim, Barbara Vona
Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages. Pakistan has a rich history of autosomal recessive gene discovery related to non-syndromic hearing loss. Since the first linkage analysis with a Pakistani family that led to the mapping of the DFNB1 locus on chromosome 13, 51 genes associated with this disorder have been identified in this population...
April 2024: Journal of Cellular and Molecular Medicine
https://read.qxmd.com/read/38533966/spaceflight-associated-neuro-ocular-syndrome-potential-etiologies-and-connections-to-the-glymphatic-system
#7
REVIEW
Joshua M Venegas
The etiology of spaceflight-associated neuro-ocular syndrome (SANS) is a developing field of research, with many current hypotheses receiving varying degrees of support. In this article, three prominent risk factors including zero gravity conditions, extraterrestrial hypercapnic environments, and individual genetic predisposition are described and their pathophysiological pathways are compared. In addition, glymphatic system impairment is explored as a potential mutual endpoint for these pathways in the development of SANS...
March 27, 2024: Journal of Neurophysiology
https://read.qxmd.com/read/38533865/-not-available
#8
JOURNAL ARTICLE
Henrik Holm Thomsen
Congenital adrenal hyperplasia (CAH) arises from genetic enzyme defects, often in CYP21A2, causing primary adrenal insufficiency. In this case report, a man in his late 20s with lifelong CAH faced challenges in adhering to medication. Suboptimal treatment led to the development of testicular adrenal rest tumours, diagnosed by ultrasound, and hypogonadism. Enhanced adherence restored hormone levels, promoting eugonadism. Adherence plays a crucial role in diminishing tumour size and preventing complications, potentially necessitating orchiectomy in severe cases...
March 11, 2024: Ugeskrift for Laeger
https://read.qxmd.com/read/38533708/body-fluid-markers-for-multiple-sclerosis-and-differential-diagnosis-from-atypical-demyelinating-disorders
#9
REVIEW
Angelika Bauer, Harald Hegen, Markus Reindl
INTRODUCTION: Body fluid markers could be helpful to predict the conversion into clinically definite multiple sclerosis (MS) in people with a first demyelinating event of the central nervous system (CNS). Consequently, biomarkers such as oligoclonal bands, which are integrated in the current MS diagnostic criteria, could assist early MS diagnosis. AREAS COVERED: This review examines existing knowledge on a broad spectrum of body fluid markers in people with a first CNS demyelinating event, explores their potential to predict conversion to MS, to assess MS disease activity, as well as their utility to differentiate MS from atypical demyelinating disorders such as neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein associated disease...
March 27, 2024: Expert Review of Molecular Diagnostics
https://read.qxmd.com/read/38533444/small-size-big-problems-insights-and-difficulties-in-prenatal-diagnosis-of-fetal-microcephaly
#10
REVIEW
Leila Haddad, Efrat Hadi, Zvi Leibovitz, Dorit Lev, Yoseph Shalev, Liat Gindes, Tally Lerman-Sagie
Microcephaly is a sign, not a diagnosis. Its incidence varies widely due to the differences in the definition and the population being studied. It is strongly related to neurodevelopmental disorders. Differences in definitions and measurement techniques between fetuses and newborns pose a great challenge for the diagnosis and prognostication of fetal microcephaly. A false positive diagnosis can result (in countries where it is legal) in erroneous termination of pregnancy, where a false negative diagnosis might lead to the birth of a microcephalic newborn...
2024: Frontiers in Neuroscience
https://read.qxmd.com/read/38533136/association-of-inflammatory-markers-with-disease-progression-and-the-severity-of-covid-19
#11
JOURNAL ARTICLE
Stuti V Patel, Jaya M Pathak, Radhay J Parikh, Karan J Pandya, Priyal B Kothari, Arushi Patel
Introduction In December 2019, there was a massive outbreak of viral pneumonia, which had a high case fatality rate. Genetic sequencing of the virus showed similarity with severe acute respiratory syndrome coronavirus (SARS-CoV). It was later named novel coronavirus 2019 while the disease it caused was given the nomenclature of COVID-19. This deadly pneumonia outbreak was declared a pandemic by the World Health Organization (WHO). Aim To derive the strength of the correlation between blood levels of various inflammatory markers with the severity of COVID-19 pneumonia in patients affected with novel coronavirus 2019...
February 2024: Curēus
https://read.qxmd.com/read/38532931/hemophagocytic-lymphohistiocytosis-during-treatment-of-intracranial-multifocal-germinoma-a-case-report-and-literature-review
#12
Ting Guo, Zichun Liu, Yixin Chen, Yangyang Cheng, Kaitong He, Xin Lin, Mingzhu Wang, Yihua Sun
Hemophagocytic lymphohistiocytosis (HLH), also known as hemophagocytic syndrome (HPS), is a benign histiocytosis with hyperreactive proliferation of the mononuclear phagocyte system caused by immune function abnormalities, which often occurs under the background of genetic mutations, inflammation, infection or tumors. Because the research on malignancy-associated HLH (M-HLH) is focused on hematological malignancies, reports on HLH secondary to solid tumors are rare. In this case, we report a 14-year-old girl who developed HLH during treatment for intracranial multifocal germinoma, and the disease was controlled after hormone combined with etoposide(VP-16) and other related treatments...
2024: Frontiers in Oncology
https://read.qxmd.com/read/38532733/characterization-of-fine-motor-and-visual-motor-skills-in-aicardi-gouti%C3%A3-res-syndrome
#13
JOURNAL ARTICLE
Stacy V Cusack, Francesco Gavazzi, Isabella Peixoto de Barcelos, Nicholson B Modesti, Sarah Woidill, Brielle Formanowski, Sara B DeMauro, Scott Lorch, Ariel Vincent, Abbas F Jawad, Timothy Estilow, Allan M Glanzman, Adeline Vanderver, Laura A Adang
Aicardi-Goutières syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. Despite a recognition of overall motor impairment, fine and visual motor skills are undercharacterized. We hypothesize that there is a spectrum of fine and visual motor skills in the Aicardi-Goutières syndrome population as captured by a standard outcome measure, the Peabody Developmental Motor Scales (PDMS-2), which will be proportional to overall disease severity.In a cohort of 74 subjects, the Peabody Developmental Motor Scales-2 grasping and visual-motor integration subtests were administered concurrently with the Aicardi-Goutières syndrome Severity Scale (severe [range 0-3], moderate [range 4-8], and attenuated [range 9-11])...
March 27, 2024: Journal of Child Neurology
https://read.qxmd.com/read/38532453/current-prospects-of-hereditary-adrenal-tumors-towards-better-clinical-management
#14
REVIEW
Akihiro Ohmoto, Naomi Hayashi, Shunji Takahashi, Arisa Ueki
Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients with ACC are associated with with Li-Fraumeni syndrome (LFS), and those with PPGL with multiple endocrine neoplasia type 2. Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome or familial adenomatous polyposis. Individuals harboring germline TP53 pathogenic variants that cause LFS have heterogeneous phenotypes depending on the respective variant type...
March 26, 2024: Hereditary Cancer in Clinical Practice
https://read.qxmd.com/read/38531627/variant-characterisation-and-clinical-profile-in-a-large-cohort-of-patients-with-ellis-van-creveld-syndrome-and-a-family-with-weyers-acrofacial-dysostosis
#15
JOURNAL ARTICLE
Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores, Pedro Arias, Jair Tenorio, Carlos Israel Chamorro Fernández, Yeliz Güven, Elif Özsu, Beray Selver Eklioğlu, Marisol Ibarra-Ramirez, Birgitte Rode Diness, Birute Burnyte, Houda Ajmi, Zafer Yüksel, Ruken Yıldırım, Edip Ünal, Ebtesam Abdalla, Mona Aglan, Hulya Kayserili, Beyhan Tuysuz, Victor Ruiz-Pérez
BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2 . Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum. METHODS: We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data...
March 26, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38531626/extent-of-investigation-and-management-of-cases-of-unexplained-mismatch-repair-deficiency-u-dmmr-a-uk-cancer-genetics-group-consensus
#16
JOURNAL ARTICLE
Terri Patricia McVeigh, Kevin J Monahan, Joseph Christopher, Nick West, Malcolm Scott, Jennie Murray, Helen Hanson
BACKGROUND: Mismatch repair deficiency (dMMR) is a characteristic feature of cancers linked to Lynch syndrome. However, in most cases, it results from sporadic somatic events rather than hereditary factors. The term 'Lynch-like syndrome' (LLS) has been used to guide colorectal cancer surveillance for relatives of individuals with a dMMR tumour when somatic and germline genomic testing is uninformative. As the assessment of mismatch repair through immunohistochemistry and/or microsatellite instability is increasingly applied across various tumour types for treatment planning, dMMR is increasingly detected in tumours where suspicion of hereditary aetiology is low...
March 26, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38531369/vamp1-related-congenital-myasthenic-syndrome-a-case-report-and-literature-review
#17
JOURNAL ARTICLE
Miraç Yıldırım, Gülçin Bilicen Yarenci, Mustafa Berk Genç, Çiğdem İlter Uçar, Secahattin Bayav, Merve Nur Tekin, Ömer Bektaş, Serap Teber
Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia...
March 26, 2024: Neuropediatrics
https://read.qxmd.com/read/38531167/clinical-features-polysomnography-and-genetics-association-study-of-restless-legs-syndrome-in-clinic-based-chinese-patients-a-multicenter-observational-study
#18
JOURNAL ARTICLE
Ruiling Liang, Wenjun Zhu, Yinghui Gao, Chen Zhao, Chi Zhang, Liyue Xu, Yuhua Zuo, Yunhui Lv, Mingming Zhao, Chenyu Li, Jie Gao, Junhua Mei, Xue Gong, Lisan Zhang, Shuxia Shen, Chunbin Yang, Jilin Ren, Yan Liu, Zan Wang, Peipei Wang, Jinxia Zhou, Feng Wang, Jun Wu, Juan Chen, Yanmei Zhu, Chunrong Zhang, Xiaosong Dong, Fang Han
STUDY OBJECTIVES: To systemically describe the clinical features, polysomnography (PSG) finding, laboratory tests and single-nucleotide polymorphisms (SNPs) in a clinic based Chinese primary restless legs syndrome (RLS) population. METHODS: This observational study, conducted from January 2020 to October 2021 across 22 sleep labs in China, recruited 771 patients diagnosed with RLS following the 2014 RLSSG criteria. Clinical data, PSG testing, and laboratory examination and SNPs of patients with RLS were collected...
March 21, 2024: Sleep Medicine
https://read.qxmd.com/read/38531023/a-validated-highly-sensitive-microsatellite-instability-assay-accurately-identifies-individuals-harboring-biallelic-germline-pms2-pathogenic-variants-in-constitutional-mismatch-repair-deficiency
#19
JOURNAL ARTICLE
Fátima Marín, Júlia Canet-Hermida, Vanessa Bianchi, Jiil Chung, Katharina Wimmer, William Foulkes, Vanesa Pérez-Alonso, Nerea Domínguez-Pinilla, Constantino Sábado, Felisa Vázquez-Gómez, Antonio Molinés, Victoria Fioravantti, Estela Carrasco, Lucie Stengs, Melissa Edwards, Logine Negm, Anirban Das, Melyssa Aronson, Ángela Pastor, Daniel Rueda, Luis Ignacio González-Granado, Uri Tabori, Gabriel Capellá, Marta Pineda
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare and extraordinarily penetrant childhood-onset cancer predisposition syndrome. Genetic diagnosis is often hampered by the identification of mismatch repair (MMR) variants of unknown significance and difficulties in PMS2 analysis, the most frequently mutated gene in CMMRD. We present the validation of a robust functional tool for CMMRD diagnosis and the characterization of microsatellite instability (MSI) patterns in blood and tumors...
March 26, 2024: Clinical Chemistry
https://read.qxmd.com/read/38531017/clinical-characteristics-developmental-trajectory-and-caregiver-burden-of-patients-with-creatine-transporter-deficiency-slc6a8
#20
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
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