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Quoted phrase not found in phrase index: "Multiple pterygium-malignant hyperthermia syndrome"
Page 1
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR. Melli G, et al. Medicine (Baltimore). 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. Medicine (Baltimore). 2005. PMID: 16267412 Free article.
Rhabdomyolysis is a common and potentially lethal clinical syndrome that results from acute muscle fiber necrosis with leakage of muscle constituents into blood. ...A linear correlation was found between CK and creatinine and between multiple factors and ARF, but th …
Rhabdomyolysis is a common and potentially lethal clinical syndrome that results from acute muscle fiber necrosis with leakage of mus …
Lethal multiple pterygium syndrome.
Mohtisham FS, Sallam A, Shawli A. Mohtisham FS, et al. BMJ Case Rep. 2019 May 8;12(5):e229045. doi: 10.1136/bcr-2018-229045. BMJ Case Rep. 2019. PMID: 31068350 Free PMC article.
Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck …
Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is ch …
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. Carrera-García L, et al. Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Am J Med Genet A. 2019. PMID: 30868735 Review.
Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. ...CHRNG mutations lead …
Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long-term follow- …
Dantrolene repurposed to treat sepsis or septic shock and COVID-19 patients.
Wei H, Liang G, Vera RM. Wei H, et al. Eur Rev Med Pharmacol Sci. 2021 Apr;25(7):3136-3144. doi: 10.26355/eurrev_202104_25569. Eur Rev Med Pharmacol Sci. 2021. PMID: 33877683 Free PMC article. Review.
Disruption of intracellular Ca2+ homeostasis via excessive and pathological Ca2+ release from the endoplasmic reticulum (ER) and/or sarcoplasmic reticulum (SR) through ryanodine receptor (RyRs) Ca2+ channels play a critical role in the pathology of systemic inflammatory response …
Disruption of intracellular Ca2+ homeostasis via excessive and pathological Ca2+ release from the endoplasmic reticulum (ER) and/or sarcopla …
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L. Pollazzon M, et al. Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029. Genes (Basel). 2021. PMID: 35052370 Free PMC article.
Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthrogryposis are multiple, and in newborns, it is difficult to predict the molecular defect as well as the clinical evolution just based on clin …
Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthrogryposis are …
Prevention, recognition, and management of serotonin syndrome.
Ables AZ, Nagubilli R. Ables AZ, et al. Am Fam Physician. 2010 May 1;81(9):1139-42. Am Fam Physician. 2010. PMID: 20433130 Free article. Review.
It is characterized by mental status changes, autonomic instability, and neuromuscular hyperactivity. Most reported cases of serotonin syndrome are in patients using multiple serotonergic drugs or who have had considerable exposure to a single serotonin-augmenting d …
It is characterized by mental status changes, autonomic instability, and neuromuscular hyperactivity. Most reported cases of serotonin sy …
Prevalence and patterns of scoliosis in children with multiple pterygium syndrome.
Joo S, Rogers KJ, Donohoe M, King MM, Kumar SJ. Joo S, et al. J Pediatr Orthop. 2012 Mar;32(2):190-5. doi: 10.1097/BPO.0b013e31823ab359. J Pediatr Orthop. 2012. PMID: 22327454
BACKGROUND: Although scoliosis is a predominant feature of multiple pterygium syndrome (MPS), the pattern of deformity and the progression of the curvature have not been well described. ...It is frequently accompanied by fusion of the cervical area. Intraspinal anom …
BACKGROUND: Although scoliosis is a predominant feature of multiple pterygium syndrome (MPS), the pattern of deformity and the …
Congenital vertical talus in multiple pterygium syndrome.
Angsanuntsukh C, Oto M, Holmes L, Rogers KJ, King MM, Donohoe M, Kumar SJ. Angsanuntsukh C, et al. J Pediatr Orthop. 2011 Jul-Aug;31(5):564-9. doi: 10.1097/BPO.0b013e31822108d0. J Pediatr Orthop. 2011. PMID: 21654467
BACKGROUND: Congenital vertical talus (CVT) is a rare foot deformity, but it is a commonly associated anomaly in patients with multiple pterygium syndrome (MPS). If left untreated, it can cause pain and morbidity, which will affect the patient's ambulation and quali …
BACKGROUND: Congenital vertical talus (CVT) is a rare foot deformity, but it is a commonly associated anomaly in patients with multiple …
Heat stroke: role of the systemic inflammatory response.
Leon LR, Helwig BG. Leon LR, et al. J Appl Physiol (1985). 2010 Dec;109(6):1980-8. doi: 10.1152/japplphysiol.00301.2010. Epub 2010 Jun 3. J Appl Physiol (1985). 2010. PMID: 20522730 Free article. Review.
Heat stroke is a life-threatening illness that is characterized clinically by central nervous system dysfunction, including delirium, seizures, or coma and severe hyperthermia. Rapid cooling and support of multi-organ function are the most effective clinical treatments, bu …
Heat stroke is a life-threatening illness that is characterized clinically by central nervous system dysfunction, including delirium, seizur …
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.
Schirwani S, Sarkozy A, Phadke R, Childs AM, Mein R, Ismail A, Smith A, Muntoni F, Hobson E, Pysden K. Schirwani S, et al. Neuromuscul Disord. 2021 Apr;31(4):359-366. doi: 10.1016/j.nmd.2020.09.033. Epub 2020 Oct 3. Neuromuscul Disord. 2021. PMID: 33558124
We report the second case of recessively inherited TPM2-related Escobar variant of multiple pterygium syndrome and congenital myopathy in a patient from a consanguineous family. ...Here we establish a homozygous intronic variant in TPM2 as the likely cause of Escoba …
We report the second case of recessively inherited TPM2-related Escobar variant of multiple pterygium syndrome and congenital …
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