keyword
https://read.qxmd.com/read/38542152/the-role-of-gut-microbiota-in-neuromyelitis-optica-spectrum-disorder
#21
REVIEW
Shi-Qi Yao, Xiayin Yang, Ling-Ping Cen, Shaoying Tan
Neuromyelitis optica spectrum disorder (NMOSD) is a rare, disabling inflammatory disease of the central nervous system (CNS). Aquaporin-4 (AQP4)-specific T cells play a key role in the pathogenesis of NMOSD. In addition to immune factors, T cells recognizing the AQP4 epitope showed cross-reactivity with homologous peptide sequences in C. perfringens proteins, suggesting that the gut microbiota plays an integral role in the pathogenicity of NMOSD. In this review, we summarize research on the involvement of the gut microbiota in the pathophysiology of NMOSD and its possible pathogenic mechanisms...
March 9, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38542117/a-novel-mutation-in-the-insr-gene-causes-severe-insulin-resistance-and-rabson-mendenhall-syndrome-in-a-paraguayan-patient
#22
JOURNAL ARTICLE
Maria Natalia Rojas Velazquez, Fabiola Blanco, Ana Ayala-Lugo, Lady Franco, Valerie Jolly, Denisse Di Tore, Idoia Martínez de Lapiscina, Marco Janner, Christa E Flück, Amit V Pandey
Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus. We report the first case of RMS in a Paraguayan patient. The patient is a 6-year-old girl who presented with hypertrichosis, acanthosis nigricans, nephrocalcinosis, and elevated levels of glucose and insulin that served as diagnostic indicators for RMS. Genetic testing by next-generation sequencing (NGS) revealed two pathogenic variants in exons 2 and 19 of the INSR gene: c...
March 8, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38541991/extremely-rare-complications-in-uniportal-spinal-endoscopy-a-systematic-review-with-unique-case-analyses
#23
REVIEW
Kajetan Łątka, Waldemar Kołodziej, Dawid Pawuś, Marek Waligóra, Jacek Trompeta, Tomasz Klepinowski, Piotr Lasowy, Masato Tanaka, Beata Łabuz-Roszak, Dariusz Łątka
Background: Endoscopic spine surgery represents a significant advancement in the minimally invasive treatment of spinal disorders, promising reduced surgical invasiveness while aiming to maintain or improve clinical outcomes. This study undertakes a comprehensive review of the literature on endoscopic spine surgery, with a particular focus on cataloging and analyzing the range of complications, from common postoperative issues to more severe, casuistic outcomes like dural tears and nerve damage. Methods: Our methodology encompassed a detailed review of meta-analyses, prospective randomized trials, cohort studies, and case reports to capture a broad spectrum of complications associated with endoscopic spine techniques...
March 19, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38541849/the-depressiveness-quality-of-life-and-neo-ffi-scale-in-patients-with-selected-genodermatoses
#24
JOURNAL ARTICLE
Bartlomiej Wawrzycki, Magdalena Fryze, Radosław Mlak, Alicja Pelc, Katarzyna Wertheim-Tysarowska, Anette Bygum, Aleksandra Wiktoria Kulbaka, Dariusz Matosiuk, Aldona Pietrzak
Background: Dermatological conditions extend beyond physical symptoms, profoundly impacting the psychological well-being of patients. This study explores the intricate relationship between depressive symptoms, quality of life (QoL), and personality traits in individuals diagnosed with specific genodermatoses. Methods: The study cohort comprised 30 patients with genodermatoses treated at the dermatology clinic, and a healthy control group. Standardized survey questionnaires: The Dermatology Life Quality Index (DLQI), Beck's Depression Inventory (BDI), and NEO Five-Factor Inventory (NEO-FFI) were employed for assessments...
March 12, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38541628/pulmonary-hypertension-and-hypothyroidism-still-an-important-clinical-coincidence-in-paediatric-population-an-endocrinologist-s-point-of-view
#25
REVIEW
Agnieszka Lecka-Ambroziak, Karolina Kot
There is limited data on hypotheses linking autoimmune thyroid diseases (AITD) and hypothyroidism with pulmonary hypertension (PH). Moreover, the prevalence of this coincidence, as well as the possible common pathogenic mechanisms, are even less explicit in paediatric population. We present a review of recently published articles regarding relatively large cohorts of children with PH, coming from paediatric PH registries, aiming to clarify the coincidence of PH and AITD, especially hypothyroidism, and discuss its possible mutual impact...
February 26, 2024: Life
https://read.qxmd.com/read/38541305/oral-health-related-quality-of-life-in-italian-children-and-adolescents-living-with-bone-dysplasia-a-cross-sectional-study
#26
JOURNAL ARTICLE
Patrizia Defabianis, Rossella Ninivaggi, Daniele Tessaris, Norma Bocca, Federica Romano
Bone dysplasia (BD) refers to a group of rare disorders characterized by skeletal and dental anomalies which may negatively influence oral health-related quality of life (OHRQoL). The aim of this cross-sectional study was to assess the impact of BD on OHRQoL in Italian children and adolescents and to assess whether gender and age influence their OHRQoL. A total of 40 patients with BD and 40 age- and gender-matched controls (aged 8-14 years) were asked to complete the Oral Health Impact Profile-14 (OHIP-14), Child Oral Health Impact Profile (COHIP), and the short form of the Child Perceptions Questionnaire (SF-CPQ)...
March 6, 2024: International Journal of Environmental Research and Public Health
https://read.qxmd.com/read/38540995/rare-mutations-in-ccdc7-contribute-to-early-onset-preeclampsia-by-inhibiting-trophoblast-migration-and-invasion
#27
JOURNAL ARTICLE
Hu Tan, Li Yu, Jingsi Chen, Xiaoyi Wang, Fang He, Lin Yu, Lili Du, Dunjin Chen
Rare gene variants have been found to play a role in complex disorders. Preeclampsia, and especially early-onset preeclampsia, has a strong genetic link. However, the role of rare variants in the offspring of mothers with preeclampsia remains unclear. In this study, whole-exome sequencing (WES) was used to identify rare pathogenic variants in two families with early-onset preeclampsia. Two heterozygous rare variants in CCDC7 , c.625C>T (p.R209C) and c.1015C>T (p.R339X), were detected in two families and were cosegregated in the offspring of preeclamptic pregnancies...
February 27, 2024: Journal of Personalized Medicine
https://read.qxmd.com/read/38540766/hedgehog-signaling-controls-chondrogenesis-and-ectopic-bone-formation-via-the-yap-ihh-axis
#28
JOURNAL ARTICLE
Qian Cong, Yingzi Yang
Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disorder characterized by abnormal bone formation due to ACVR1 gene mutations. The identification of the molecular mechanisms underlying the ectopic bone formation and expansion in FOP is critical for the effective treatment or prevention of HO. Here we find that Hh signaling activation is required for the aberrant ectopic bone formation in FOP. We show that the expression of Indian hedgehog ( Ihh ), a Hh ligand, as well as downstream Hh signaling, was increased in ectopic bone lesions in Acvr1R206H ; ScxCre mice...
March 14, 2024: Biomolecules
https://read.qxmd.com/read/38540540/successful-pharmacologic-treatment-of-self-bloodletting-with-factitious-chronic-anemia-lasth%C3%A3-nie-de-ferjol-syndrome-with-high-dose-serotonergic-medication-a-case-report
#29
Stefan Mestermann, Laura Rudtke, Razvan-Marius Brazdis, Thanos Tsaktanis, Johannes Kornhuber, Norbert Thürauf
Self-induced bloodletting (SBL) is a very rare form of self-injury (SI) seen primarily in adolescents and young adults with personality and eating disorders. It can result in complications like malaise, fatigue, or iron-deficiency anemia (Lasthénie de Ferjol syndrome, LFS), and poses a risk of accidental death or suicide. The condition often goes undetected due to patient concealment. There is no specific treatment established, and pharmacological strategies remain uncertain. We discuss the case of a 22-year-old female patient treated at our Psychiatry and Psychotherapy Department following a suicide attempt via SBL...
March 14, 2024: Behavioral Sciences
https://read.qxmd.com/read/38540409/leukodystrophy-with-macrocephaly-refractory-epilepsy-and-severe-hyponatremia-the-neonatal-type-of-alexander-disease
#30
Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Rafał Płoski
INTRODUCTION: Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by GFAP mutation. Symptoms usually occur in the infantile age with macrocephaly, developmental deterioration, progressive quadriparesis, and seizures as the most characteristic features. In this case report, we provide a detailed clinical description of the neonatal type of AxD. METHOD: Next-Generation Sequencing (NGS), including a panel of 49 genes related to Early Infantile Epileptic Encephalopathy (EIEE), was carried out, and then Whole Exome Sequencing (WES) was performed on the proband's DNA extracted from blood...
March 11, 2024: Genes
https://read.qxmd.com/read/38540351/drug-repurposing-and-lysosomal-storage-disorders-a-trick-to-treat
#31
REVIEW
Bruno Hay Mele, Federica Rossetti, Maria Vittoria Cubellis, Maria Monticelli, Giuseppina Andreotti
Rare diseases, or orphan diseases, are defined as diseases affecting a small number of people compared to the general population. Among these, we find lysosomal storage disorders (LSDs), a cluster of rare metabolic diseases characterized by enzyme mutations causing abnormal glycolipid storage. Drug repositioning involves repurposing existing approved drugs for new therapeutic applications, offering advantages in cost, time savings, and a lower risk of failure. We present a comprehensive analysis of existing drugs, their repurposing potential, and their clinical implications in the context of LSDs, highlighting the necessity of mutation-specific approaches...
February 25, 2024: Genes
https://read.qxmd.com/read/38540345/prevalence-of-endocrinopathies-in-a-cohort-of-patients-with-rett-syndrome-a-two-center-observational-study
#32
JOURNAL ARTICLE
Giorgia Pepe, Roberto Coco, Domenico Corica, Gabriella Di Rosa, Filip Bossowski, Magdalena Skorupska, Tommaso Aversa, Stefano Stagi, Malgorzata Wasniewska
Systematic data on endocrinopathies in Rett syndrome (RTT) patients remain limited and inconclusive. The aim of this retrospective observational two-center study was to assess the prevalence of endocrinopathies in a pediatric population of RTT patients. A total of 51 Caucasian patients (47 girls, 4 boys) with a genetically confirmed diagnosis of RTT were enrolled (mean age 9.65 ± 5.9 years). The patients were referred from the Rett Center of two Italian Hospitals for endocrinological evaluation. All the study population underwent clinical and auxological assessments and hormonal workups...
February 24, 2024: Genes
https://read.qxmd.com/read/38540177/telomere-dysfunction-in-pediatric-patients-with-differences-disorders-of-sexual-development
#33
JOURNAL ARTICLE
Haifaou Younoussa, Macoura Gadji, Mamadou Soumboundou, Bruno Colicchio, Ahmed Said, Ndeye Aby Ndoye, Steffen Junker, Andreas Plesch, Leonhard Heidingsfelder, Ndeye Rama Diagne, Alain Dieterlen, Philippe Voisin, Patrice Carde, Eric Jeandidier, Radhia M'kacher
UNLABELLED: Differences/Disorders of sex development (DSDs) are conditions in which the development of chromosomal, gonadal, and anatomical sexes is atypical. DSDs are relatively rare, but their incidence is becoming alarmingly common in sub-Saharan Africa (SSA). Their etiologies and mechanisms are poorly understood. Therefore, we have investigated cytogenetic profiles, including telomere dysfunction, in a retrospective cohort of Senegalese DSD patients. MATERIALS AND METHODS: Peripheral blood lymphocytes were sampled from 35 DSD patients (mean age: 3...
March 2, 2024: Biomedicines
https://read.qxmd.com/read/38539608/measurement-of-functional-brain-network-connectivity-in-people-with-orthostatic-tremor
#34
JOURNAL ARTICLE
Connor J Phipps, David Whitney, James Shou, Diego Torres-Russotto, David E Warren
Orthostatic tremor is a rare movement disorder characterized by a sensation of unsteadiness and leg tremor while standing. It has been hypothesized that the disorder is attributable to dysregulation of a central oscillatory network in the brain. This putative network includes primary motor cortex, supplementary motor area, cerebellum, thalamus, and pontine tegmentum. We studied this brain network by recording resting-state functional MRI data from individuals with orthostatic tremor. For each participant, we measured resting-state functional connectivity using a seed-based approach...
February 27, 2024: Brain Sciences
https://read.qxmd.com/read/38539402/review-of-opsoclonus-myoclonus-ataxia-syndrome-in-pediatric-patients
#35
REVIEW
Mandy Hsu, Isbaah Tejani, Nidhi Shah, Rasaq Olaosebikan, Ashutosh Kumar, Sunil Naik
Opsoclonus-myoclonus ataxia syndrome (OMAS), also known as Kinsbourne syndrome, is a rare disorder that presents with myoclonus, ataxia, abnormal eye movements, irritability, and sleep disruptions, often in young children. We report a case of an infant barely 6 months old, with no significant past medical history, who presented to the emergency department with tremors, jerking motions of the head and arms, and rapid eye movements. After an extensive workup, she was found to have a neuroblastoma, which was subsequently surgically removed via thoracotomy...
March 19, 2024: Children
https://read.qxmd.com/read/38539320/navigating-the-diagnostic-journey-in-pediatric-gastroenterology-decoding-recurrent-vomiting-and-epigastric-pain-in-a-child-with-glutaric-aciduria-type-ii
#36
Ho-Poh Kek, Wan-Long Tsai, Pao-Chin Chiu, Wen-Harn Koh, Ching-Chung Tsai
BACKGROUND: Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied manifestations and onset ages. CASE REPORT: This study presents a distinctive case of a 10-year-old girl who experienced episodic, intermittent vomiting and epigastric pain, particularly aggravated by high-fat and sweet foods. Despite inconclusive physical examinations and routine laboratory tests, and an initial suspicion of cyclic vomiting syndrome, the persistence of recurrent symptoms and metabolic abnormalities (metabolic acidosis and hypoglycemia) during her third hospital admission necessitated further investigation...
February 26, 2024: Children
https://read.qxmd.com/read/38539245/glucose-phosphate-isomerase-deficiency-demasked-by-whole-genome-sequencing-a-case-report
#37
JOURNAL ARTICLE
Sissel Holme, Richard van Wijk, Andreas Ørslev Rasmussen, Jesper Petersen, Andreas Glenthøj
BACKGROUND: Glucose-6-phosphate isomerase deficiency is a rare genetic disorder causing hereditary nonspherocytic hemolytic anemia. It is the second most common glycolytic enzymopathy in red blood cells. About 90 cases are reported worldwide, with symptoms including chronic hemolytic anemia, jaundice, splenomegaly, gallstones, cholecystitis, and in severe cases, neurological impairments, hydrops fetalis, and neonatal death. CASE PRESENTATION: This paper details the case of the first Danish patient diagnosed with glucose-6-phosphate isomerase deficiency...
March 28, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38539216/osteofibrous-dysplasia-a-narrative-review
#38
REVIEW
Rui Liu, Linjian Tong, Haiyang Wu, Qiang Guo, Lixia Xu, Zhiming Sun, Hua Yan
Osteofibrous dysplasia (OFD) is a rare, benign, self-limited bone disorder with a relatively low incidence, accounting for approximately 0.2% of all primary bone tumors. It was frequently found intra-cortical of the mid-shaft of the tibia. OFD can also occur in other skeletal regions, including the fibula, ulna, radius, femur, humerus, ischium, rib, tarsus, metatarsals, vertebral, and capitate. OFD can present with asymptomatic, mass, pain, swelling, deformity, and even pathological fracture. OFD might be misdiagnosed as adamantinoma (AD) and because they are three subtypes origin from the same family of bone tumors and have similar imaging features...
March 27, 2024: Journal of Orthopaedic Surgery and Research
https://read.qxmd.com/read/38539027/population-longitudinal-analysis-of-gait-profile-score-and-north-star-ambulatory-assessment-in-children-with-duchenne-muscular-dystrophy
#39
JOURNAL ARTICLE
Jiexin Deng, Fangli Liu, Zhifen Feng, Zhigang Liu
Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder characterized by loss-of-function mutations in the gene encoding dystrophin. These mutations lead to progressive functional deterioration including muscle weakness, respiratory insufficiency, and musculoskeletal deformities. Three-dimensional gait analysis (3DGA) has been used as a tool to analyze gait pathology through the quantification of altered joint kinematics, kinetics, and muscle activity patterns. Among 3DGA indices, the Gait Profile Score (GPS), has been used as a sensitive overall measure to detect clinically relevant changes in gait patterns in children with DMD...
March 27, 2024: CPT: Pharmacometrics & Systems Pharmacology
https://read.qxmd.com/read/38538628/genomic-and-clinical-characterization-of-a-familial-gist-kindred-intolerant-to-imatinib
#40
JOURNAL ARTICLE
K M Ingley, M Zatzman, A M Fontebasso, W Lo, V Subasri, A Goldenberg, Y Li, S Davidson, N Kanwar, L Waldman, L Brunga, Y Babichev, E G Demicco, A Gupta, M Szybowska, S Thipphavong, D Malkin, A Villani, A Shlien, R A Gladdy, R H Kim
Familial gastrointestinal stromal tumors (GIST) are rare. We present a kindred with multiple family members affected with multifocal GIST who underwent whole genome sequencing of the germline and tumor. Affected individuals with GIST harbored a germline variant found within exon 13 of the KIT gene (c.1965T>G; p.Asn655Lys, p.N655K) and a variant in the MSR1 gene (c.877 C > T; p.Arg293*, pR293X). Multifocal GISTs in the proband and her mother were treated with preoperative imatinib, which resulted in severe intolerance...
March 27, 2024: NPJ Genomic Medicine
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