Le syndrome de Marfan et les fibrillinopathies

Marfan’s syndrome is the second most common inherited connective tissue disorder, after osteogenesis imperfecta. The musculoskeletal abnormalities dominate the clinical presentation and produce a characteristic phenotype that is among the major diagnostic criteria, together with cardiac and ocular involvement. Early diagnosis is essential because appropriate preventive measures can significantly increase survival and reduce impairments and disabilities. Marfan’s syndrome is due to mutations within the gene encoding fibrillin 1, which is the main protein of the microfibril network. Fibrillin 1 influences elastic tissue nutrition and function. Multidisciplinary management of the patients and families is of the utmost importance.     

Chirurgie et anticoagulant circulant de type antiprothrombinase dans le syndrome de Soulier et Boffa

A case is reported of a young female patient with a circulating lupus anticoagulant. The illness, associated with several spontaneous abortions, is characterized as a « Soulier and Boffa syndrome . No severe bleeding occurred when the underwent several major operations. The clinical picture of lupus anticoagulant is discussed, as well as the perioperative management of such patients. The presence of a lupus anticoagulant, if not associated with other hemostatic defects, is not a contraindication to surgery. The risks and benefits of postoperative heparinization are recalled. Thrombin time seems to be the best coagulation test for adapting heparin doses.     

Quality-of-life and postoperative satisfaction following pseudoarthrectomy in patients with Bertolotti syndrome

BACKGROUND CONTEXTBertolotti syndrome is a clinical diagnosis given to patients with back pain arising from a lumbosacral transitional vertebra (LSTV). A particular class of LSTV involves a pseudoarticulation between the fifth lumbar transverse process and the sacral ala, and surgical resection of the pseudoarticulation may be offered to patients failing conservative management. Bertolotti syndrome is still not well understood, particularly regarding how patients respond to surgical resection of the LSTV pseudoarticulation.PURPOSETo examine change in quality-of-life (QOL) and patient satisfaction following surgical resection of the LSTV pseudoarticulation in patients with Bertolotti syndrome.DESIGNAmbidirectional observational cohort study of patients seen at a single institution's tertiary spine center over a 10-year period.PATIENT SAMPLECohort consisted of 31 patients with Bertolotti Syndrome who underwent surgical resection of the pseudoarticulation.OUTCOME MEASURESPreoperative and postoperative Patient-Reported Outcomes Measurement Information System Global Health (PROMIS-GH) Mental and Physical Health T-scores, and a single-item postoperative satisfaction questionnaire.METHODSPatients were identified through diagnostic and procedural codes. Immediate preoperative PROMIS-GH scores available in the chart were gathered retrospectively, and postoperative PROMIS-GH and satisfaction scores were gathered prospectively through a mail-in survey.RESULTSMean (SD) improvement of PROMIS-GH Physical Health T-score was 8.7 (10.5) (p<.001). Mean (SD) improvement of PROMIS-GH Mental Health T-scores was 5.9 (9.2) (p=.001). When stratifying PROMIS-GH T-scores by response to the patient satisfaction survey, there were significant group differences in mean change for Physical Health T-scores (p<.001), and Mental Health T-score (p=.009). Patients who stated, “The treatment met my expectations” had much greater mean improvement in the PROMIS-GH T-scores.CONCLUSIONSPatients undergoing a pseudoarticulation resection procedure may experience a significant improvement in quality-of-life as measured by PROMIS-GH Mental and Physical Health.     

Tendinopathie du tibial postérieur et syndrome de Werner

Posterior tibial tendinopathy is seen most frequently in women over age 50 and is associated with overweight and valgus deformity of the hindfoot. We report the unique observation of bilateral posterior tibial tendinopathy associated with significant flatfoot in a 41-year-old man, symptomatic since age 39 and presenting with signs of premature ageing, particularly affecting the skin. His severe tendinopathy indicated surgical intervention on the left side, consisting of partial arthrodesis for stabilisation and exploration of the tendon. The skin manifestations of ageing led to dermatological and genetic explorations, which confirmed the diagnosis of Werner syndrome with clinical signs of premature aging. This syndrome is an autosomal recessive genetic disease, caused by chromosomal instability and mutation of the WRN gene. It is characterised by the signs of ageing: cataracts, hair loss, greying, skin alterations, osteoporosis, and atherosclerosis. There is an increased incidence of skin ulcerations, diabetes mellitus and predisposition to cancer. Flatfoot is known to be a musculoskeletal complication, but the presence of tibial posterior tendinopathy appears to be a new aspect of ageing tendons, as described in this case report.     

L'uncoforaminectomie de Jung dans le traitement de l'arthrose cervicale et dans le syndrome cervical post-traumpatique

An anterolateral approach to the cervical spine with uncoforaminectomy is used to free the intra transverse portion of the vertebral artery (from C7 to C3) and the nerve roots. Four surgical indications are discussed; the cervicocephalic syndrome due to osteoarthritis of the joints of Luschka, the cervicobrachialgic syndrome which is often combined wirth the former, cervical myelopathy associated with osteoarthritis and the post-traumatic cervical syndrome. Clincal and neuro-radiological details are given. The results of operation are described in 149 cases and they have been successful in 82%.     

Onyiuke Grading Scale: A clinical classification system for the diagnosis and management of Bertolotti syndrome

BackgroundLumbosacral transitional vertebrae (LSTV) is a common anatomic variant of the spine, characterized by the formation of a pseudoarticulation between the transverse process of the lumbar vertebrae and sacrum or ilium. LSTVs have been implicated as a potential source of low back pain – dubbed Bertolotti syndrome. Traditionally, LSTVs have only been subdivided into types I–IV based on the Castellvi radiographic classification system.ObjectiveSolely identifying the type of LSTV radiographically provides no clinical relevance to the treatment of Bertolotti syndrome. Here, we seek to analyze such patients and identify a clinical grading scale and diagnostic-therapeutic algorithm to optimize care for patients with this congenital anomaly.MethodsPatients presenting with back pain between 2011 and 2018 attributable to a lumbosacral transitional vertebra were identified retrospectively. Data was collected from these patients’ charts regarding demographic information, clinical presentation, diagnostic imaging, treatment and outcomes. Based on evaluation of these cases and review of the literature, a diagnostic-therapeutic algorithm is proposed.ResultsBased on our experiences evaluating and treating these patients and review of the existing literature, we propose a clinical classification system for Bertolotti syndrome: we proposed a 4-grade scale for patients with Bertolotti syndrome based upon location, severity, and characteristics of pain experienced due to LSTVs.ConclusionBased on our experience with the cases illustrated here, we recommend managing patients with LSTV based on our diagnostic-therapeutic algorithm. Moving forward, a larger prospective study with a larger patient cohort is needed to further validate the treatment paradigm.     

Essai de localisation et de dosage de l''ARN dans le fragelle et dans la gouttelette cytoplasmique du spermatozoide de taureau

The RNA has been located and proportioned by a spectrophotometric method which absorbs the ultra-violet light. The technique used allows us to execute punctual dosage into the spermatozoon's tail. Each of these punctual dosages makes us realise the RNA localisation; and the sum of these dosages makes us realise the total quantity which is contained in one spermatozoon. The signification of the collected data is debated. A comparison has been made with chemical methods. These methods give the advantage to obtain valuations on large quantities of spermatozoa. But these valuations are always global value, and the individual value is always a mean's expression. Without being dull, the microspectophotometry is slow and brings about to effect on much restricted numbers, but the data are all individual measurements, (and we can even obtain punctual measurements in the range of 400 to 500 for the tail only. So that we can interprete these individual measurements and make very interesting comparisons from cell to cell. The possibilities are therefore very large and they complete fortunately the chemical methods.