Patients with a rhabdomyolysis linked to a hereditary disease of metabolism who have benefited from a diagnostically muscle biopsy and whose myoblasts are available.
Patients benefit from an effort test as part of their care.

Patients with a rhabdomyolysis linked to a hereditary disease of metabolism who have benefited or not from a diagnostically muscle biopsy but whose myoblasts are not available.
Patients benefit from an effort test as part of their care.

10 patient-matched healthy controls for age and sex having performed an effort test and cardiac exploration as part of their care.

6 healthy controls matched by age and sex having performed a muscle biopsy as part of their care and whose myoblasts are kept.

Rhabdomyolysis Linked to a Hereditary Disease of Metabolism

Cardiac function:
Echocardiography: left ventricular ejection fraction and global longitudinal strain will be measured.
Cardiopulmonary exercise test (CPET): left ventricular stroke volume was assessed noninvasively using a thoracic bioelectrical impedance device : maximal stroke volume at the peak of effort will be considered.
Peripheral muscle function:
CPET: Oxygen uptake (VO2) (and carbon dioxide) output are measured. The slope of the relationship (dQ/dVO2) will be calculated between cardiac output (Q) and VO2 using measurements of Q (using measure of the stroke volume by thoracic bioelectrical impedance device) and VO2 at rest as well as during submaximal and maximal exercise
Muscle oxygenation is measured using a near-infrared spectroscopy device.
VO2 et Q will be measured : dQ/dVO2 is high in case of oxydation defect; If Q is low because of a concommittant cardiac impairement, the DAV = VO2/Q, and DO = (Q x DAV) / (200 - DAV) will be calculated.

Effort test

Functional tests performed on fibroblasts in primary culture, using as tracers of stable isotope-labeled substrates. The metabolites of interest are assayed in mass spectrometry.

Functional tests on fibroblasts

Hôpital Necker-Enfants Malades

Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses

Study of the Correlation Between the Effort Test, With the Assessment of Peripheral Oxygen Consumption and Cardiac Output in Patients With Acute Rhabdomyolysis Related to a Hereditary Disease of Metabolism, and the Biochemical Flux on Myoblasts: Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses

Measurement of peripheral muscular oxygenation during the effort test.

Evaluation of cardiac performance by the value of the systolic ejection volume at the peak of the effort.
The systolic ejection volume is measured beat per beat during the effort test.

Measurement of the ejection fraction of the left ventricle in Simpson biplane and the longitudinal strain of the left ventricle in echocardiography.

Myoblasts will be incubated in the presence of stable isotope-labeled tracers. The natural metabolites labelled with stable isotopes will be dosed. The acylcarnitines will be dosed on a mass spectrometer. The Krebs cycle intermediates will be measured in gas chromatography coupled with mass spectrometry.

Clinical severity of rhabdomyolysis linked to a hereditary disease of metabolism.

Genotypic severity of rhabdomyolysis linked to a hereditary disease of metabolism.
Information available in the patient medical record.

Assistance Publique - Hôpitaux de Paris

sublingual two moistened white coated placebo tablets

Pregnancy

Cesarean Delivery

received sublingual two moistened white coated placebo tablets which looked identical in size, colour, and packing to misoprostol tablet.

Placebo

sublingual misoprostol was given by putting two moistened tablets of misoprostol (400 µg) under the tongue and allowing them to dissolve (Misotac®, Sigma Pharmaceutical Industries, Egypt) (200 µg/tablet).

Misoprostol

College of Medicine, Mansoura University

Sublingual Misoprostol & Isoflurane During Caesarean Section

Effects of Preoperative Sublingual Misoprostol on Uterine Tone During Isoflurane Anaesthesia for Caesarean Section

estimated blood loss (EBL) = pregnancy blood volume (ml) (EBV) x [preoperative haematocrit - postoperative haematocrit] / preoperative haematocrit, where EBV measured as shown in the following formula; (0.75 x {[maternal height (inches) x 50] + [maternal weight in pounds x 25]})

The obstetrician who was blinded to the study group, assessed the uterine tone by palpation every three minutes after delivery of the placenta and rated the degree of uterine contraction on a 10-cm VAS (0: well contracted; 10: completely relaxed).

If uterine tone remained unsatisfactory for 3 min after delivery, an additional 5-unit bolus of oxytocin was administered. The number of patients received oxytocin was recorded

haematocrit levels was recorded before and 48 hours after cesarean delivery

Apgar score and clinical signs after delivery

the presence of postoperative side effects such as nausea and vomiting, diarrhoea, abdominal pain, pyrexia, and shivering were recorded.

Mohamed R El Tahan

Associate Professor

Mansoura University

Individuals with Freeman-Sheldon, Sheldon-Hall, distal arthrogryposis type 1, or distal arthrogryposis type 3

Blood samples will be taken but no retention is expected.

Arthrogryposis

Craniofacial Abnormalities

Completed during the clinical examination and exercise test by the researchers, lactate, glucose, and free and total adenosine triphosphate blood levels are determined at rest and during exercise.

Lactate, Glucose, and Adenosine Triphosphate Blood Levels

During exercise, heart and lung function are monitored for changes caused by exercise, which increases the body's need for oxygen and puts extra demands on the heart. In this study, testing is done using a cycle ergometer and conducted according to the standardised exponential exercise protocol (STEEP).

Physiological Stress Test

Evaluated before clinical examination, it is a checklist of medical problems.

Functional Enquiry Form

Completed during the clinical examination by the researchers, it is a structured approach to evaluation of muscles, joints, arms, thighs, and legs.

Strength, Joint ROM, Girth and Length Measurements

Completed during the clinical examination by the researchers, it is a structured approach to a full physical examination (minus breasts, genitalia, or rectum).

Study Physical Examination

Completed during the clinical examination by researchers, it is a structured approach to evaluation of a person's walking.

Observational Gait Analysis

Completed during the clinical examination by the researchers, it is a general evaluation of mental health status.

Mental Health Interview

Freeman-Sheldon Research Group, Inc.: Organisational website. Includes organisation information and scientific and lay information on Freeman-Sheldon syndrome and related conditions.

Freeman-Sheldon Research Group, Inc. Headquarters

Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions

Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters

Increased heart rate, measured electrocardiographically, is used as an index of cardiovascular strain imposed by needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

Oxygen consumption, measured by ventilation of expired oxygen, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

Increased non-invasive arterial blood pressure rate is used as an index of cardiovascular strain imposed by needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

Decreased ability of the lungs to move air, measured by forced expiration, is used as an index of strain imposed by Freeman-Sheldon syndrome and related conditions.

Decreased saturation of peripheral oxygen, measured by pulse oxymetry, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

Increased respiratory rate, measured by plethysmograph, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

Heart rhythms, monitored by electrocardiograph, are used as an index of cardiovascular strain imposed by needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

Increased core temperature, measured as oesophageal temperature, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon, related conditions, and malignant hyperthermia.

Decreased adenosine triphosphate, measured as capillary blood level, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

Increased perceived exertion, measured using the Borg scale, are used as an index of fatigue.

Increased muscle rigidity, evaluated by clinical examination and patient self-report, is used as an indicator of malignant hyperthermia, when increased core temperature, heart rate, and respiratory rate are present.

Functional and health-related quality of life, measured with the Medical Outcomes Trust Short Form (36) Health Survey (SF-36), is used as a general prediction of expected physical exercise capacity.

Lactic acid, measured by capillary blood level, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

Glucose, measured by capillary blood level, is used as an index of physiological strain, together with lactic acid and adenosine triphosphate capillary blood levels, imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

Body composition, measured by calliper, together with direct indices of physiological strain, is used to determined metabolic disease burden of Freeman-Sheldon syndrome and related conditions.

Decreased hand grip strength, measured by a hand dynamometer, is used as an index of physiological strain imposed by Freeman-Sheldon and related conditions

We do not intend to share any individual participant data.

adenosine triphosphate/fever

Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses

Sublingual Misoprostol & Isoflurane During Caesarean Section

Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions

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