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Synonyme(s)histo-pathologie ;histo-pathology ;histologie pathologique ;morbid histology pathological histology
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Zanoteli E, Soares PS, Silva AMSD, et al.
Clinical neurology and neurosurgery, 2020, 192
Revue : Clinical neurology and neurosurgery, 192 Titre : Clinical features of collagen VI-related dystrophies: A large Brazilian cohort Type de document : Article Auteurs : Zanoteli E ; Soares PS ; Silva AMSD ; Camelo CG ; Fonseca ATQSM ; Albuquerque MAV ; Moreno CAM ; Lopes Abath Neto O ; Novo Filho GM ; Kulikowski LD ; Reed UC Editeur : Netherlands Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : adulte ; Brésil ; collagénose ; corrélation génotype-phénotype ; diagnostic ; dystrophie musculaire ; dystrophie musculaire congénitale de type Ullrich ; enfant ; étude de cohorte ; famille ; gène COL6 ; histopathologie ; maladie neuromusculaire ; myopathie de Bethlem Pubmed / DOI : Pubmed : 32065942 / DOI : 10.1016/j.clineuro.2020.105734 N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32065942Rosenberg H, Sambuughin N, Riazi S, et al.
GeneReviews® [Internet], 2020
Revue : GeneReviews® [Internet] Titre : Malignant Hyperthermia Susceptibility : Synonym: Malignant Hyperpyrexia Type de document : Article Auteurs : Rosenberg H ; Sambuughin N ; Riazi S ; Dirksen R Année de publication : 16/01/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; biopsie musculaire ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic clinique ; diagnostic différentiel ; diagnostic moléculaire ; dystrophie musculaire de Becker ; dystrophie musculaire de Duchenne ; dystrophie myotonique de type 1 ; dystrophie myotonique de type 2 ; examen clinique ; gène CACNL1A3 ; gène RYR1 ; génétique moléculaire ; grossesse ; hyperthermie maligne ; myopathie à central core ; myopathie à multiminicores ; myotonie congénitale ; paralysie périodique familiale hypokaliémique ; physiopathologie ; prévalence ; prévention des complications ; recommandation ; rhabdomyolyse ; susceptibilité génétique ; syndrome malin des neuroleptiques ; test de contracture ; thyréotoxicose Résumé : Initial Posting: December 19, 2003; Last Update: January 16, 2020.
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
The diagnosis of MHS is established with in vitro muscle contracture testing by measuring the contracture responses of biopsied muscle samples to halothane and graded concentrations of caffeine. The diagnosis of MHS can also be established by identification of a pathogenic variant in CACNA1S, RYR1, or STAC3 on molecular genetic testing.
Treatment of manifestations: Early diagnosis of an MH episode is essential. Successful treatment of an acute episode of MH includes: discontinuation of potent inhalation agents and succinylcholine; increase in minute ventilation to lower end-tidal CO2; use of MHAUS helpline; administration of dantrolene sodium intravenously; cooling measures if body temperature is >38.5° C; treatment of cardiac arrhythmias if needed (do not use calcium channel blockers); monitoring blood gases, serum concentrations of electrolytes and CK, blood and urine for myoglobin, and coagulation profile; treatment of metabolic abnormalities.
Prevention of primary manifestations: Individuals with MHS should not be exposed to potent volatile agents and succinylcholine. Individuals undergoing general anesthetics that exceed 30 minutes in duration should have their temperature monitored using an electronic temperature probe. Individuals with MHS should carry proper identification as to their susceptibility.
Agents/circumstances to avoid: Avoid potent inhalation anesthetics and succinylcholine. Calcium channel blockers should not be given together with dantrolene due to a potential cardiac depressant effect. Serotonin antagonist (5HT3-antagonist) antiemetics should be used cautiously. Individuals with MHS should avoid extremes of heat, but not restrict athletic activity unless there is a history of overt rhabdomyolysis and/or heat stroke. Strenuous activities at high ambient temperatures should be avoided or performed with caution. In individuals with MH undergoing cardiac bypass surgery, aggressive rewarming should be avoided, as it may be associated with development of clinical signs of MH.
Evaluation of relatives at risk: If the MHS-causative pathogenic variant in the family is known, molecular genetic testing can be used to established increased risk of MH in a heterozygous individual; molecular genetic testing alone cannot be used to identify family members who are not at increased risk for MH due to other possible genetic risk factors. If the pathogenic variant in the family is not known or if an at-risk relative is found to be negative for a familial pathogenic variant, muscle contracture testing can be used to assess susceptibility to MH.
Pregnancy management: If a pregnant woman with MHS requires a non-emergent surgery, a non-triggering anesthetic (local, nerve block, epidural, spinal anesthesia, or a total intravenous general anesthetic) should be administered. Continuous epidural analgesia is highly recommended for labor and delivery. If a cesarean delivery is indicated in a woman who does not have an epidural catheter in place, neuraxial (spinal, epidural, or combined spinal-epidural) anesthesia is recommended (if not otherwise contraindicated). If a general anesthetic is indicated, a total intravenous anesthetic technique should be administered, with an anesthesia machine that has been prepared for an MH-susceptible individual.
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder. Most individuals diagnosed with MHS have a parent with MHS, although the parent may not have experienced an episode of MH. The proportion of individuals with MHS caused by a de novo pathogenic variant is unknown. Each child of an individual with MHS has a 50% chance of inheriting a causative pathogenic variant. Prenatal teesting for a pregnancy at increased risk is possible if there is a known MH pathogenic variant in the family.
Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301325Carrasco D, Magoulas P, Scull JC, et al.
Neurology. Genetics, 2019, 5, 5
Revue : Neurology. Genetics, 5, 5 Titre : Digital necrosis in an infant with severe spinal muscular atrophy Type de document : Article Auteurs : Carrasco D, Auteur ; Magoulas P ; Scull JC ; Jarrell JA ; Lalani SR ; Wangler MF Editeur : United States Année de publication : 09/2019 Langues : Anglais (eng) Mots-clés : amyotrophie spinale ; amyotrophie spinale infantile ; amyotrophie spinale proximale liée à SMN1 ; doigt ; étude de cas ; maladie du motoneurone ; maladie neuromusculaire ; nécrose Pubmed / DOI : Pubmed : 31742229 / DOI : 10.1212/NXG.0000000000000361 N° Profil MNM : 2019112 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31742229
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency : Synonyms: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, VLCAD DeficiencyLeslie ND, Valencia CA, Strauss AW, et al.
GeneReviews® [Internet], 2019
Revue : GeneReviews® [Internet] Titre : Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency : Synonyms: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, VLCAD Deficiency Type de document : Article Auteurs : Leslie ND ; Valencia CA ; Strauss AW ; Zhang K Année de publication : 23/05/2019 Langues : Anglais (eng) Mots-clés : article de synthèse ; classification des maladies ; conseil génétique ; corrélation génotype-phénotype ; déficit en acyl-CoA déshydrogénase ; description de la maladie ; diagnostic ; diagnostic différentiel ; diagnostic moléculaire ; diagnostic prénatal ; examen clinique ; examen complémentaire ; glucose ; grossesse ; médecine physique et de réadaptation ; prévalence ; prise en charge thérapeutique ; rhabdomyolyse ; trouble cardiaque Résumé : Initial Posting: May 28, 2009; Last Revision: May 23, 2019.
Deficiency of very long-chain acyl-CoA dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms.
Diagnosis is established in an individual with abnormal acylcarnitine analysis on biochemical testing and/or identification of biallelic pathogenic variants in ACADVL on molecular genetic testing. If one ACADVL pathogenic variant is found and suspicion of VLCAD deficiency is high, specialized biochemical testing using cultured fibroblasts or lymphocytes may be needed for confirmation of the diagnosis.
Treatment of manifestations: Use of intravenous (IV) glucose as an energy source, treatment of cardiac rhythm disturbance, and monitoring of rhabdomyolysis. Cardiac dysfunction may be reversible with early, intensive supportive care (occasionally including extracorporeal membrane oxygenation) and diet modification.
Prevention of primary manifestations: Individuals with the more severe forms are typically placed on a low-fat formula, with supplemental calories provided through medium-chain triglycerides. Clinical trials of triheptanoin have shown some potential benefit for exercise tolerance.
Prevention of secondary complications: Acute rhabdomyolysis is treated with ample hydration and alkalization of the urine to protect renal function and to prevent acute renal failure secondary to myoglobinuria.
Surveillance: Suggested evaluations include annual physical exam including cardiac status, echocardiography on an annual or biannual basis, and annual assessment of nutritional status to avoid obesity, which can become a significant, difficult-to-manage problem in this disorder.
Agents/circumstances to avoid: Fasting, myocardial irritation, dehydration, and high-fat diet, volatile anesthetics and those that contain high doses of long-chain fatty acids such as propofol and etomidate.
Evaluation of relatives at risk: Evaluation of older and younger sibs of a proband to identify those who would benefit from institution of treatment and preventive measures.
Pregnancy management: Labor and postpartum periods are catabolic states and place the mother at higher risk for rhabdomyolysis and subsequent myoglobinuria. A management plan for labor and delivery is necessary for the affected pregnant woman.
VLCAD deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family are known.
[Au: Update the author information below as needed. List the authors in the order in which the names should appear in the posted entry.]
Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301763Hackman P, Savarese M, Carmignac V, et al.
GeneReviews® [Internet], 2019
Revue : GeneReviews® [Internet] Titre : Salih Myopathy : Synonym: Early-Onset Myopathy with Fatal Cardiomyopathy Type de document : Article Auteurs : Hackman P ; Savarese M ; Carmignac V ; Udd B ; Salih MA Année de publication : 11/04/2019 Langues : Anglais (eng) Mots-clés : article de synthèse ; cardiomyopathie dilatée ; conseil génétique ; description de la maladie ; diagnostic ; diagnostic différentiel ; dystrophie musculaire congénitale ; examen clinique ; gène TTN ; génétique moléculaire ; histopathologie musculaire ; prévention des complications ; prise en charge thérapeutique Résumé : Initial Posting: January 12, 2012; Last Update: April 11, 2019.
Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children acquire independent walking between ages 20 months and four years. In the first decade of life, global motor performance is stable or tends to improve. Moderate joint and neck contractures and spinal rigidity may manifest in the first decade but become more obvious in the second decade. Scoliosis develops after age 11 years. Cardiac dysfunction manifests between ages five and 16 years, progresses rapidly, and leads to death between ages eight and 20 years, usually from heart rhythm disturbances.
The diagnosis is established in a proband by identification of biallelic pathogenic variants in the first three M-line-encoding exons (Mex1, Mex2, and Mex3) of TTN, the only gene in which pathogenic variants are known to cause Salih myopathy.
Treatment of manifestations: Care, best provided by a multidisciplinary team, includes stretching exercises and physical therapy; assistive mechanical devices for sitting and ambulation as needed; and appropriate technical support in educational settings. Treat heart failure and cardiac arrhythmia as soon as they are evident. Cardiac transplantation may be considered for progressive dilated cardiomyopathy and heart failure refractory to medical therapy.
Prevention of secondary complications: Annual influenza vaccine and other respiratory infection-related immunizations are advised. Aggressive treatment of lower-respiratory tract infections.
Surveillance: Electrocardiogram (ECG), 24-hour Holter ECG, and echocardiogram every six months beginning at age five years. Annual evaluation of respiratory function beginning at age 10 years. Clinical examination and x-ray as needed for orthopedic complications (e.g., foot deformity, joint contractures, spinal deformity).
Agents/circumstances to avoid: Ibuprofen in those with congestive heart failure.
Salih myopathy is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes (i.e., carriers of one pathogenic variant) and are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified.
Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 22238790Cukierman L
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