keyword
https://read.qxmd.com/read/38368531/evaluation-of-tendon-and-ligament-microstructure-and-mechanical-properties-in-a-canine-model-of-mucopolysaccharidosis-i
#21
JOURNAL ARTICLE
Yian Khai Lau, Keerthana Iyer, Snehal Shetye, Chet S Friday, George R Dodge, Michael W Hast, Margret L Casal, Rahul Gawri, Lachlan J Smith
Mucopolysaccharidosis (MPS) I is a lysosomal storage disorder characterized by deficient alpha-l-iduronidase activity, leading to abnormal accumulation of glycosaminoglycans (GAGs) in cells and tissues. Synovial joint disease is prevalent and significantly reduces patient quality of life. There is a strong clinical need for improved treatment approaches that specifically target joint tissues; however, their development is hampered by poor understanding of underlying disease pathophysiology, including how pathological changes to component tissues contribute to overall joint dysfunction...
February 18, 2024: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://read.qxmd.com/read/38367597/disbalanced-recruitment-of-crossed-and-uncrossed-cerebello-thalamic-pathways-during-deep-brain-stimulation-is-predictive-of-delayed-therapy-escape-in-essential-tremor
#22
JOURNAL ARTICLE
Bastian E A Sajonz, Marvin L Frommer, Marco Reisert, Ganna Blazhenets, Nils Schröter, Alexander Rau, Thomas Prokop, Peter C Reinacher, Michel Rijntjes, Horst Urbach, Philipp T Meyer, Volker A Coenen
BACKGROUND: Thalamic deep brain stimulation (DBS) is an efficacious treatment for drug-resistant essential tremor (ET) and the dentato-rubro-thalamic tract (DRT) constitutes an important target structure. However, up to 40% of patients habituate and lose treatment efficacy over time, frequently accompanied by a stimulation-induced cerebellar syndrome. The phenomenon termed delayed therapy escape (DTE) is insufficiently understood. Our previous work showed that DTE clinically is pronounced on the non-dominant side and suggested that differential involvement of crossed versus uncrossed DRT (DRTx/DRTu) might play a role in DTE development...
February 12, 2024: NeuroImage: Clinical
https://read.qxmd.com/read/38365661/miyoshi-myopathy-associated-with-spine-rigidity-and-multiple-contractures-a-case-report
#23
JOURNAL ARTICLE
Sergey N Bardakov, Angelina A Titova, Sergey S Nikitin, Valentin Nikitins, Margarita O Sokolova, Vadim A Tsargush, Elena A Yuhno, Oleg V Vetrovoj, Pierre G Carlier, Yana V Sofronova, Аrtur А Isaev, Roman V Deev
BACKGROUND: Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once. CASE PRESENTATION: We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant. The disease first manifested when the patient was 13 years old, with fatigue of the gastrocnemius muscles and the development of pronounced contractures of the Achilles tendons, flexors of the fingers, and extensors of the toes, followed by the involvement of large joints and the spine...
February 16, 2024: BMC Musculoskeletal Disorders
https://read.qxmd.com/read/38363772/impact-of-bread-diet-on-intestinal-dysbiosis-and-irritable-bowel-syndrome-symptoms-in-quiescent-ulcerative-colitis-a-pilot-study
#24
JOURNAL ARTICLE
Aleix Lluansí, Marc Llirós, Robert Carreras-Torres, Anna Bahí, Montserrat Capdevila, Anna Feliu, Laura Vilà-Quintana, Núria Elias-Masiques, Emilio Cueva, Laia Peries, Leyanira Torrealba, Josep Oriol Miquel-Cusachs, Míriam Sàbat, David Busquets, Carmen López, Sílvia Delgado-Aros, Librado Jesús Garcia-Gil, Isidre Elias, Xavier Aldeguer
Gut microbiota may be involved in the presence of irritable bowel syndrome (IBS)-like symptomatology in ulcerative colitis (UC) patients in remission. Bread is an important source of dietary fiber, and a potential prebiotic. To assess the effect of a bread baked using traditional elaboration, in comparison with using modern elaboration procedures, in changing the gut microbiota and relieving IBS-like symptoms in patients with quiescent ulcerative colitis. Thirty-one UC patients in remission with IBS-like symptoms were randomly assigned to a dietary intervention with 200 g/d of either treatment or control bread for 8 weeks...
2024: PloS One
https://read.qxmd.com/read/38358038/myosin-heavy-chain-perinatal-regulates-skeletal-muscle-differentiation-oxidative-phenotype-and-regeneration
#25
JOURNAL ARTICLE
Akashi Sharma, Aatifa Zehra, Sam J Mathew
Myosin heavy chain-perinatal (MyHC-perinatal) is one of two development-specific myosin heavy chains expressed exclusively during skeletal muscle development and regeneration. The specific functions of MyHC-perinatal are unclear, although mutations are known to lead to contracture syndromes such as Trismus-pseudocamptodactyly syndrome. Here, we characterize the functions of MyHC-perinatal during skeletal muscle differentiation and regeneration. Loss of MyHC-perinatal function leads to enhanced differentiation characterized by increased expression of myogenic regulatory factors and differentiation index as well as reduced reserve cell numbers in vitro...
February 15, 2024: FEBS Journal
https://read.qxmd.com/read/38357523/cellular-activation-patterns-of-cd10-fibro-adipogenic-progenitors-across-acquired-disease-states-in-human-skeletal-muscle-biopsies
#26
JOURNAL ARTICLE
Peter W Schutz, Simon Cheung, Lin Yi, Fabio M V Rossi
Background: Fibro-adipogenic progenitors (FAP) are muscle resident mesenchymal stem cells pivotal for regulation of myofiber repair. Experimental results show in addition involvement in a range of other pathological conditions and potential for pharmacological intervention. FAP histopathology in human muscle biopsies is largely unknown, but has potential to inform translational research. Methods: CD10+ FAPs in 32 archival muscle biopsies from 8 groups (normal, dermatomyositis, inclusion body myositis (IBM), anti-synthetase syndrome, immune-mediated necrotizing myopathy (IMNM), denervation, type 2 atrophy, rhabdomyolysis) were visualized by CD10 immunohistochemistry and their histology compared...
January 2024: Free neuropathology
https://read.qxmd.com/read/38355957/expanding-the-genetic-and-phenotypic-spectrum-of-congenital-myasthenic-syndrome-new-homozygous-vamp1-splicing-variants-in-2-novel-individuals
#27
JOURNAL ARTICLE
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. Whole-exome sequencing (WES) uncovered two new homozygous VAMP1 (Vesicle Associated Membrane Protein 1) splicing variants, NM_014231.5:c.129+5 G > A in the boy patient (P1) and c.341-24_341-16delinsAGAAAA in the girl patient (P2). This gene encodes the vesicle-associated membrane protein 1 (VAMP1) that is a component of a protein complex involved in the fusion of synaptic vesicles with the presynaptic membrane...
February 14, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38353900/mast-cell-activation-syndrome-and-gut-dysfunction-diagnosis-and-management
#28
REVIEW
Matthew J Hamilton
PURPOSE OF REVIEW: Mast cell activation syndrome (MCAS) is a clinical disorder that may explain irritable bowel syndrome (IBS) type symptoms as well as other allergic symptoms experienced by an individual. The diagnosis and treatment of MCAS with specific focus on gastrointestinal (GI) manifestations is reviewed. RECENT FINDINGS: Although biomarkers for MCAS remain elusive, testing for baseline serum tryptase will distinguish the type of mast cell disorder and urine tests for mast cell mediator metabolites may support the diagnosis...
February 14, 2024: Current Gastroenterology Reports
https://read.qxmd.com/read/38352369/chromatin-remodeling-protein-chd4-regulates-axon-guidance-of-spiral-ganglion-neurons-in-developing-cochlea
#29
Jihyun Kim, Edward Martinez, Jingyun Qiu, Julie Zhouli Ni, Kelvin Y Kwan
The chromodomain helicase binding protein 4 (CHD4) is an ATP-dependent chromatin remodeler. De-novo pathogenic variants of CHD4 cause Sifrim-Hitz-Weiss syndrome (SIHIWES). Patients with SIHIWES show delayed development, intellectual disability, facial dysmorphism, and hearing loss. Many cochlear cell types, including spiral ganglion neurons (SGNs), express CHD4. SGNs are the primary afferent neurons that convey sound information from the cochlea, but the function of CHD4 in SGNs is unknown. We employed the Neurog1(Ngn1) CreERT 2 Chd4 conditional knockout animals to delete Chd4 in SGNs...
February 1, 2024: bioRxiv
https://read.qxmd.com/read/38348948/complex-insoluble-dietary-fiber-alleviates-obesity-liver-steatosis-and-modulates-the-gut-microbiota-in-c57bl-6j-mice-fed-a-high-fat-diet
#30
JOURNAL ARTICLE
Zurui Liu, Juan Dai, Ruijia Liu, Ziyi Shen, Ai Huang, YuKun Huang, Lijun Wang, Pengfei Chen, Zheng Zhou, Hang Xiao, Xianggui Chen, Xiao Yang
BACKGROUND: Obesity has been demonstrated as a risk factor that seriously affects health. Insoluble dietary fiber, as a major component of dietary fiber (DF), has positive effects on obesity, inflammation and diabetes. RESULTS: In this study, complex insoluble DF (IDF) was prepared using 50% enoki mushroom IDF, 40% carrot IDF, and 10% oat IDF. The effects and potential mechanism of complex IDF on obesity were investigated in C57BL/6 mice fed a high-fat diet. The results showed that feeding diets containing 5% complex IDF for 8 weeks significantly reduced mouse body weight, epididymal lipid index, ectopic fat deposition, and improved mouse liver lipotoxicity (reduced serum levels of alanine aminotransferase, aspartate aminotransferase, and alkaline phosphatase), fatty liver, and short-chain fatty acid composition...
February 13, 2024: Journal of the Science of Food and Agriculture
https://read.qxmd.com/read/38348644/phenotypical-characterization-of-exteroceptive-sensation-and-pain-symptoms-on-diabetic-patients
#31
JOURNAL ARTICLE
Inaeh de Paula Oliveira, Victória Regina da Silva Oliveira, Heloísa Alonso-Matielo, Beatriz Magalhães Eng, Daniel Ciampi de Andrade, Manoel Jacobsen Teixeira, Milena Cristina Dias Calsaverini, Fernando de Quadros Ribeiro, José Deney Alves Araújo, Helder Takashi Imoto Nakaya, José Pinhata Otoch, Camila Squarzoni Dale
BACKGROUD: Diabetic neuropathy (DN) is one of the most common complications of diabetes, affecting about half of individuals with the disease. Among the various symptoms of DN, the development of chronic pain stands out and manifests as exacerbated responses to sensorial stimuli. The conventional clinical treatments used for general neuropathy and associated painful symptoms, still brings uncomplete and unsatisfactory pain relief. Patients with neuropathic pain syndromes are heterogeneous...
February 13, 2024: Pain Practice: the Official Journal of World Institute of Pain
https://read.qxmd.com/read/38344600/acute-respiratory-distress-syndrome-in-a-patient-with-systemic-sclerosis-a-case-of-a-life-threatening-complication
#32
Rawan Almutairi, Dalal Alkhudair
Numerous pulmonary conditions, such as aspiration pneumonia and acute respiratory distress syndrome (ARDS), may result from aspiration of gastric or oropharyngeal contents passing into the lower respiratory tract. ARDS is a type of diffuse lung injury that is distinguished by the abrupt onset of extensive pulmonary inflammation accompanied by the failure of multiple organ systems. Systemic sclerosis is an uncommon connective tissue disorder that presents with skin thickening, the etiology of which remains unknown...
January 2024: Curēus
https://read.qxmd.com/read/38339022/functional-characteristics-of-the-nav1-1-p-arg1596cys-mutation-associated-with-varying-severity-of-epilepsy-phenotypes
#33
JOURNAL ARTICLE
Grzegorz Witkowski, Bartlomiej Szulczyk, Ewa Nurowska, Marta Jurek, Michal Pasierski, Agata Lipiec, Agnieszka Charzewska, Mateusz Dawidziuk, Michal Milewski, Szymon Owsiak, Rafal Rola, Halina Sienkiewicz Jarosz, Dorota Hoffman-Zacharska
Mutations of the SCN1A gene, which encodes the voltage-dependent Na+ channel's α subunit, are associated with diverse epileptic syndromes ranging in severity, even intra-family, from febrile seizures to epileptic encephalopathy. The underlying cause of this variability is unknown, suggesting the involvement of additional factors. The aim of our study was to describe the properties of mutated channels and investigate genetic causes for clinical syndromes' variability in the family of five SCN1A gene p...
February 1, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38338957/functional-and-morphological-differences-of-muscle-mitochondria-in-chronic-fatigue-syndrome-and-post-covid-syndrome
#34
JOURNAL ARTICLE
Daniel Alexander Bizjak, Birgit Ohmayer, Jasmine Leonike Buhl, Elisabeth Marion Schneider, Paul Walther, Enrico Calzia, Achim Jerg, Lynn Matits, Jürgen Michael Steinacker
Patients suffering from chronic fatigue syndrome (CFS) or post-COVID syndrome (PCS) exhibit a reduced physiological performance capability. Impaired mitochondrial function and morphology may play a pivotal role. Thus, we aimed to measure the muscle mitochondrial oxidative phosphorylation (OXPHOS) capacity and assess mitochondrial morphology in CFS and PCS patients in comparison to healthy controls (HCs). Mitochondrial OXPHOS capacity was measured in permeabilized muscle fibers using high-resolution respirometry...
January 30, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38338934/charcot-marie-tooth-disease-with-myelin-protein-zero-mutation-presenting-as-painful-predominant-small-fiber-neuropathy
#35
Franco Gemignani, Antonio Percesepe, Francesca Gualandi, Isabella Allegri, Maria Federica Bellanova, Andi Nuredini, Elena Saccani, Enrico Ambrosini, Valeria Barili, Vera Uliana
Charcot-Marie-Tooth disease (CMT) rarely presents with painful symptoms, which mainly occur in association with myelin protein zero ( MPZ ) gene mutations. We aimed to further characterize the features of painful neuropathic phenotypes in MPZ -related CMT. We report on a 58-year-old woman with a longstanding history of intermittent migrant pain and dysesthesias. Examination showed minimal clinical signs of neuropathy along with mild changes upon electroneurographic examination, consistent with an intermediate pattern, and small-fiber loss upon skin biopsy...
January 29, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38338541/-auricularia-auricula-judae-attenuates-the-progression-of-metabolic-syndrome-in-high-fat-diet-induced-obese-rats-enzymatic-pre-digestion-technology-is-superior-to-superfine-grinding-method
#36
JOURNAL ARTICLE
Ying Jia, Kun Chen, Menggang Du, Wanzhou Zhao, Yong Chen, Junhong Cheng, Lin Zhao, Jiankang Liu, Jiangang Long
Auricularia auricula-judae (AAJ) has been cultivated for food in China for centuries, and is also used as a folk medicine for the regulation of glucose and lipid metabolism. However, there are few studies on the effects of different processing technologies on the therapeutic efficacy of AAJ to date. This study investigated the effectiveness of the AAJ made by using superfine grinding and enzymatic pre-digestion technologies, respectively, in a high-fat diet obese rat model. It was found that oral administrations of two AAJ products significantly alleviated dyslipidemia by decreasing serum lipid levels and restoring liver functions...
January 26, 2024: Foods (Basel, Switzerland)
https://read.qxmd.com/read/38338254/a-comparative-study-of-food-intake-and-adipose-tissue-distribution-in-saudi-women-with-polycystic-ovarian-syndrome
#37
JOURNAL ARTICLE
Nujud H Hurayb, Ghedeir M Alshammari, Abdulrahman S Al-Khalifa, Nora Alafif, Dania H Aljaroudi, Mohammed A Mohammed, Abu ElGasim Ahmed Yagoub, Mohammed Abdo Yahya
Polycystic ovary syndrome (PCOS) is a frequent disorder that affects reproductive-aged women and has reproductive, metabolic, and psychosocial effects. This research was intended to investigate the comparison between food intake and adipose tissue distribution in Saudi women suffering from PCOS and a control group. To determine the sociodemographic variables, a case-control study was performed with patients from King Fahad Medical City's Reproductive Endocrine and Infertility Medicine Department (REIMD). The case-control study comprised 42 PCOS patients (PCOS-Ps) and 63 as a control group, all aged 20-45 years...
February 1, 2024: Healthcare (Basel, Switzerland)
https://read.qxmd.com/read/38337657/impact-of-dietary-nutrients-on-the-prevalence-of-dry-eye-syndrome-among-korean-women-aged-40-and-above-evidence-from-the-korea-national-health-and-nutrition-examination-survey
#38
JOURNAL ARTICLE
Jeong-Mee Kim, Yean-Jung Choi
This study aimed to assess the prevalence of dry eye syndrome among Korean women aged 40 and above and explore the correlation between the syndrome and daily dietary nutrient intake. We analyzed data from 92,888 female participants (mean age: 63.35 ± 8.86 years) from the 8th Korea National Health and Nutrition Examination Survey (KNHANES 2019). Dietary intake was evaluated using a personalized 24 h recall method for 21 nutrients, including macronutrients, macro- and micro-minerals, and both water- and fat-soluble vitamins...
January 26, 2024: Nutrients
https://read.qxmd.com/read/38337634/nutraceuticals-and-pain-disorders-of-the-gut-brain-interaction-in-infants-and-children-a-narrative-review-and-practical-insights
#39
REVIEW
Silvia Salvatore, Mariagrazia Carlino, Simona Sestito, Daniela Concolino, Massimo Agosti, Licia Pensabene
Different nutraceuticals are often considered by parents of infants and children with abdominal pain and disorders of the gut-brain interaction. Herb extracts and natural compounds have long been used in traditional medicine, but clinical pediatric trials are very limited. This narrative review based on relevant studies identified through a search of the literature in Pubmed and Medline updated to October 2023 focused on the effect of nutraceuticals in infantile colic, functional abdominal pain, and irritable bowel syndrome in children and adolescents...
January 25, 2024: Nutrients
https://read.qxmd.com/read/38335004/bilateral-deficiency-of-meissner-corpuscles-and-papillary-microvessels-in-patients-with-acute-complex-regional-pain-syndrome
#40
JOURNAL ARTICLE
Katharina Mehling, Juliane Becker, Jeremy Chen, Sabrina Scriba, Gudrun Kindl, Rafael Jakubietz, Claudia Sommer, Beate Hartmannsberger, Heike L Rittner
Complex regional pain syndrome (CRPS) presents postinjury with disproportionate pain and neuropathic, autonomic, motor symptoms, and skin texture affection. However, the origin of these multiplex changes is unclear. Skin biopsies offer a window to analyze the somatosensory and vascular system as well as skin trophicity with their protecting barriers. In previous studies, barrier-protective exosomal microRNAs were altered in CRPS. We here postulated that tissue architecture and barrier proteins are already altered at the beginning of CRPS...
February 7, 2024: Pain
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