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Total 11221 results found since Jan 2013.
Usefulness of nabilone as an antiemetic in persistent vomiting due to refractory gastrointestinal disorders
Rev Esp Enferm Dig. 2023 Jun 14. doi: 10.17235/reed.2023.9719/2023. Online ahead of print.ABSTRACTNabilone, a synthetic analogue of delta-9-Tetrahydrocannabinol, is an agonist of cannabinoid receptors (CB-1 and CB-2) approved to treat chemotherapy-induced vomiting refractory to antiemetics. Its use in patients with refractory vomiting due to gastrointestinal dysmotility (GID) has not been reported. Our study aims are to assess nabilone usefulness and side-effects in patients with refractory vomiting due to GID. Patients prescribed nabilone at St. Mark's intestinal rehabilitation unit (January 2017 to September 2022) due to...
Source: Revista Espanola de Enfermedades Digestivas - June 14, 2023 Category: Gastroenterology Authors: Cristina Olmedo Moreno Richard Holman Manni Naghibi Suzanne Donnelly Alison Culkin Lilia Malcom Nicola Vernon Simon Gabe Source Type: research
Identification of m.3243A & gt;G mitochondrial DNA mutation in patients with cerebellar ataxia
CONCLUSION: Mitochondrial m.3243A>G mutation accounted for 0.9% (2/232) of genetically-undetermined cerebellar ataxia in the Han Chinese cohort in Taiwan. These findings highlight the importance of investigating m.3243A>G in patients with genetically-undetermined cerebellar ataxia.PMID:37311680 | DOI:10.1016/j.jfma.2023.05.031
Source: J Formos Med Assoc - June 13, 2023 Category: General Medicine Authors: Nai-Yi Liao Kuan-Lin Lai Yi-Chu Liao Cheng-Tsung Hsiao Yi-Chung Lee Source Type: research
Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C > T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient
Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and peripheral neuropathy; however, the features are unclear. A 44-year-old woman was clinically diagnosed with Charcot-Marie-Tooth disease at 3 years of age due to gait disturbance. Her activity and voluntary speech gradually decreased in her 40s. Cognitive function was evaluated and brain imaging tests were performed. The Mini-Mental State Examination and frontal assessment battery scores...
Source: Frontiers in Neurology - June 13, 2023 Category: Neurology Source Type: research
A case series of patients with MYBPC1 gene variants featuring undulating tongue movements as myogenic tremor
Myosin Binding Protein C1(MYBPC1) encodes myosin-binding protein C, slow type (sMyBP-C); an accessory protein that regulates actomyosin cross-linking, stabilizes thick filaments, and modulates contractility in muscle sarcomeres, and has recently been linked to myopathy with tremor. The clinical features of MYBPC1 mutations manifesting in early childhood bear some similarities to those of spinal muscular atrophy (SMA): such as hypotonia, involuntary movement of the tongue and limbs, and delayed motor development.
Source: Pediatric Neurology - June 12, 2023 Category: Neurology Authors: Saki Uneoka, Tomoko Kobayashi, Yurika Numata-Uematsu, Yoshitsugu Oikawa, Yu Katata, Yukimune Okubo, Yu Abe, Atsuo Kikuchi, Jun Takayama, Gen Tamiya, Shigeo Kure, Kayoko Saito, Mitsugu Uematsu Tags: Short Communication Source Type: research
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
Conclusion: Bi-genomic DNA sequencing clarified genetic etiology in 67% (16/24) of the families. Diagnostic utility by mtDNA sequencing in 13% (3/24) and exome sequencing in 54% (13/24) of the families prioritized searching for nuclear genome pathologies for the first-tier test. Weakness and muscle wasting observed in 17% (4/24) of the families underlined that limb-girdle muscular dystrophy, similar to mitochondrial myopathy, is an essential point for differential diagnosis. The correct diagnosis is crucial for comprehensive genetic counseling of families. Also, it contributes to making treatment-helpful referrals, such as...
Source: Frontiers in Genetics - June 12, 2023 Category: Genetics & Stem Cells Source Type: research
Serum metabolomic analysis reveals disorder of steroid hormone biosynthesis in patients with idiopathic inflammatory myopathy
Idiopathic inflammatory myopathy (IIM) is a heterogeneous group of autoimmune diseases with various clinical manifestations, treatment responses, and prognoses. According to the clinical manifestations and presence of different myositis-specific autoantibodies (MSAs), IIM is classified into several major subgroups, including PM, DM, IBM, ASS, IMNM, and CADM. However, the pathogenic mechanisms of these subgroups remain unclear and need to be investigated. Here, we applied MALDI-TOF-MS to examine the serum metabolome of 144 patients with IIM and analyze differentially expressed metabolites among IIM subgroups or MSA groups. ...
Source: Frontiers in Immunology - June 12, 2023 Category: Allergy & Immunology Source Type: research
Respiratory features of centronuclear myopathy in the Netherlands
Centronuclear myopathies (CNMs) are a group of inherited neuromuscular disorders which are histopathologically characterized by the presence of nuclei in the center of muscle cells [1]. CNM is clinically and genetically heterogenous, mainly caused by mutations in MTM1, DNM2, RYR1, TTN, and BIN1 [2 –5]. The majority of the corresponding proteins are involved in membrane trafficking and the formation of structures crucial for excitation-contraction coupling, and are thus essential for normal muscle function [6].
Source: Neuromuscular Disorders - June 11, 2023 Category: Neurology Authors: Sietse Bouma, Nicolle Cobben, Karlijn Bouman, Michael Gaytant, Ries van de Biggelaar, Jeroen van Doorn, Stacha F.I. Reumers, Nicoline BM Voet, Jonne Doorduin, Corrie E. Erasmus, Erik-Jan Kamsteeg, Heinz Jungbluth, Peter Wijkstra, Nicol C. Voermans Tags: Research paper Source Type: research
Olverembatinib Treatment in Pediatric Patients With Relapsed Philadelphia-Chromosome-Positive Acute Lymphoblastic Leukemia
Clin Lymphoma Myeloma Leuk. 2023 May 11:S2152-2650(23)00140-4. doi: 10.1016/j.clml.2023.04.012. Online ahead of print.ABSTRACTTreatment outcomes for children with Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL) remained poor despite the use of intensive chemotherapy, imatinib or dasatinib, and consolidative allogeneic hematopoietic cell transplantation. Oleverembatinib, a third-generation ABL inhibitor, was found to be highly effective and safe in adults with chronic myeloid leukemia and in some adults with relapsed or refractory Ph+ ALL. We reviewed the efficacy and safety profile of olverembatin...
Source: Clinical Lymphoma and Myeloma - June 10, 2023 Category: Cancer & Oncology Authors: Xiaolan Li Jingliao Zhang Fang Liu Tianfeng Liu Ranran Zhang Yumei Chen Ye Guo Yongjun Fang Xiaojun Xu Ching-Hon Pui Xiaofan Zhu Source Type: research
Chronic activation of the aryl hydrocarbon receptor in muscle exacerbates ischemic pathology in chronic kidney disease
bioRxiv. 2023 May 18:2023.05.16.541060. doi: 10.1101/2023.05.16.541060. Preprint.ABSTRACTChronic kidney disease (CKD) accelerates the development of atherosclerosis, decreases muscle function, and increases the risk of amputation or death in patients with peripheral artery disease (PAD). However, the cellular and physiological mechanisms underlying this pathobiology are ill-defined. Recent work has indicated that tryptophan-derived uremic toxins, many of which are ligands for the aryl hydrocarbon receptor (AHR), are associated with adverse limb outcomes in PAD. We hypothesized that chronic AHR activation, driven by the acc...
Source: Atherosclerosis - June 9, 2023 Category: Cardiology Authors: Nicholas Balestrieri Victoria Palzkill Caroline Pass Jianna Tan Zachary R Salyers Chatick Moparthy Ania Murillo Kyoungrae Kim Trace Thome Qingping Yang Kerri A O'Malley Scott A Berceli Feng Yue Salvatore T Scali Leonardo F Ferreira Terence E Ryan Source Type: research
