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1.
Eur J Orthop Surg Traumatol ; 32(5): 827-836, 2022 Jul.
Article in English | MEDLINE | ID: mdl-34143310

ABSTRACT

PURPOSE: To implement a clinically applicable, predictive model for the lumbar Cobb angle below a selective thoracic fusion in adolescent idiopathic scoliosis. METHODS: A series of 146 adolescents with Lenke 1 or 2 idiopathic scoliosis, surgically treated with posterior selective fusion, and minimum follow-up of 5 years (average 7) was analyzed. The cohort was divided in 2 groups: if lumbar Cobb angle at last follow-up was, respectively, ≥ or < 10°. A logistic regression-based prediction model (PredictMed) was implemented to identify variables associated with the group ≥ 10°. The guidelines of the TRIPOD statement were followed. RESULTS: Mean Cobb angle of thoracic main curve was 56° preoperatively and 25° at last follow-up. Mean lumbar Cobb angle was 33° (20; 59) preoperatively and 11° (0; 35) at last follow-up. 53 patients were in group ≥ 10°. The 2 groups had similar demographics, flexibility of both main and lumbar curves, and magnitude of the preoperative main curve, p > 0.1. From univariate analysis, mean magnitude of preoperative lumbar curves (35° vs. 30°), mean correction of main curve (65% vs. 58%), mean ratio of main curve/distal curve (1.9 vs. 1.6) and distribution of lumbar modifiers were statistically different between groups (p < 0.05). PredictMed identified the following variables significantly associated with the group ≥ 10°: main curve % correction at last follow-up (p = 0.01) and distal curve angle (p = 0.04) with a prediction accuracy of 71%. CONCLUSION: The main modifiable factor influencing uninstrumented lumbar curve was the correction of main curve. The clinical model PredictMed showed an accuracy of 71% in prediction of lumbar Cobb angle ≥ 10° at last follow-up. LEVEL OF EVIDENCE IV: Longitudinal comparative study.


Subject(s)
Kyphosis , Scoliosis , Spinal Fusion , Adolescent , Humans , Lumbar Vertebrae/diagnostic imaging , Lumbar Vertebrae/surgery , Retrospective Studies , Scoliosis/diagnostic imaging , Scoliosis/surgery , Thoracic Vertebrae/diagnostic imaging , Thoracic Vertebrae/surgery , Treatment Outcome
2.
Eur J Med Genet ; 64(4): 104166, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33571694

ABSTRACT

CHD3-related syndrome, also known as Snijders Blok-Campeau syndrome, is a rare developmental disorder described in 2018, caused by de novo pathogenic variants in the CHD3 gene. This syndrome is characterized by global developmental delay, speech delay, intellectual disability, hypotonia and behavioral disorders including autism spectrum disorder (ASD). Typical dysmorphic features include macrocephaly, hypertelorism, enophthalmia, sparse eyebrows, bulging forehead, midface hypoplasia, prominent nose and pointed chin. To our knowledge, there have been no other clinical descriptions of patients since the initial publication. We report the clinical description of a 21-year-old patient harboring a pathogenic de novo variant in CHD3. We reviewed the clinical features of the 35 previously reported patients. Main features were severe intellectual disability, dysmorphic facies, macrocephaly, cryptorchidism, pectus carinatum, severe ophthalmologic abnormalities and behavioral disorders including ASD, and a frank happy demeanor. Hypersociability, which was a noticeable clinical feature in our case, despite ASD, is an uncommon behavioral feature in syndromic intellectual disabilities. Our report supports hypersociability as a suggestive feature of CHD3-related syndrome along with developmental delay, macrocephaly and a dysmorphic facies.


Subject(s)
Craniofacial Abnormalities/genetics , DNA Helicases/genetics , Developmental Disabilities/genetics , Megalencephaly/genetics , Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics , Social Behavior , Craniofacial Abnormalities/pathology , Developmental Disabilities/pathology , Humans , Male , Megalencephaly/pathology , Mutation , Syndrome , Young Adult
3.
Semin Arthritis Rheum ; 48(6): 1105-1112, 2019 06.
Article in English | MEDLINE | ID: mdl-30344080

ABSTRACT

OBJECTIVES: To describe the clinical and microbiological characteristics and outcomes after antibiotic treatment of a national cohort of patients with Lyme arthritis confirmed by PCR testing on synovial fluid and by serology, when available. METHODS: Using the French National Reference Center for Borrelia database, patients with a positive PCR on synovial fluid for Borrelia were identified. Patient clinical and biological characteristics were reviewed from patient records. Long-term outcomes after treatment were studied through a questionnaire and with follow-up data. RESULTS: Among 357 synovial fluid testing by PCR between 2010 and 2016, 37 (10.4%) were positive for Borrelia. Patients' median age was 36 years (range 6-78) with 61% of men and 28% patients under 18. The presentation was monoarticular in 92% and the knee was involved in 97%. Contrary to the Borrelia species repartition in European ticks, B. burgdorferi sensu stricto was the most prevalent species found in synovial fluid (54%) followed by B. azfelii (29%) and B. garinii (17%). Antibiotic treatments were mainly composed of doxycycline (n = 24), ceftriaxone (n = 10) and amoxicillin (n = 6), for a median duration of 4 weeks (range 3-12). Despite a properly conducted treatment, 34% of patients (n = 12) developed persistent synovitis for at least 2 months (median duration 3 months, range 2-16). Among those, 3 developed systemic inflammatory oligo- or polyarthritis in previously unaffected joints with no signs of persistent infection (repeated PCR testing negative), which mandated Disease-Modifying Antirheumatic Drugs (DMARD) introduction, leading to remission. CONCLUSION: In France and contrary to ticks ecology, Lyme arthritis is mainly caused by B. burgdorferi sensu stricto. Despite proper antibiotic therapy, roughly one third of patients may present persistent inflammatory synovitis and a small proportion may develop systemic arthritis. In such cases, complete remission can be reached using DMARD.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Borrelia/isolation & purification , Lyme Disease/drug therapy , Synovial Fluid/microbiology , Adolescent , Adult , Aged , Child , Female , France , Humans , Lyme Disease/microbiology , Male , Middle Aged , Polymerase Chain Reaction , Treatment Outcome , Young Adult
5.
Int Orthop ; 31(4): 513-23, 2007 Aug.
Article in English | MEDLINE | ID: mdl-16967278

ABSTRACT

Lumbar hyperlordosis of neuromuscular origin is rare and requires surgical treatment in order to preserve a good sitting posture. We report twenty-seven cases of a preponderantly sagittal hyperlordosis deformity of the lumbar spine in patients with neuromuscular disorders and identify the indications and results of treatment. Seventeen males and ten females, aged 13 to 27 years, underwent operations for a lumbar hyperlordosis of neuromuscular origin responsible for major difficulties in sitting. In all patients, the sacrum was horizontal and associated in twenty-six cases with marked pelvic anteversion. Eleven patients were treated surgically by a posterior approach. The sixteen remaining patients had a preliminary discectomy, followed by posterior correction and fusion. Lumbar hyperlordosis was reduced from 8 degrees to 77 degrees between L1 and S1. The horizontal sacrum was partially reduced with an improvement from 8 degrees to 50 degrees . Consequently, patients recovered a comfortable sitting position. One patient died of respiratory complications six weeks after surgery. Surgical correction is a demanding procedure which can be performed by a posterior approach. It is mandatory to analyse the spino-pelvic balance to avoid iliac retroversion and the loss of the role of the ischia in the sitting position.


Subject(s)
Lordosis/etiology , Lordosis/surgery , Lumbar Vertebrae/physiopathology , Neuromuscular Diseases/complications , Adolescent , Adult , Cohort Studies , Diskectomy , Female , Humans , Lordosis/physiopathology , Male , Pelvic Bones/physiopathology , Pelvic Bones/surgery , Posture/physiology , Sacrum/physiopathology , Sacrum/surgery
7.
Presse Med ; 34(11): 791-3, 2005 Jun 18.
Article in French | MEDLINE | ID: mdl-16097379

ABSTRACT

OBJECTIVE: To assess the individual predictability of success for undergraduate medical students taking the French national-ranking examination (examen classant national [NRE]) in June 2004. METHODS: In total, 86 students in Rouen were classified according to RNE scores. We used the Spearman rank test [rs] to correlate to the RNE score each student's previous test results during the medical curriculum: written exams (first two years of medical classes), clinical skill tests (third- and fourth-year) and the clinical and therapeutic synthesis certificate (CSCT), and the northwest region official RNE practice test. Each student's ECN rank was then predicted by a regression formula. RESULTS: Written exam (r5 = 0.35), third- and fourth-year clinical skill (r(s) = 0.62), CSCT (r(s) = 0.49) and regional practice test (r(s) = 0.56) scores were strongly and significantly associated with the RNE classification. Of the 59 students who took all tests, 12 students (20.3%) diverged from the regression model: three students obtained a national classification substantially better than expected, nine ranked substantially lower than expected. CONCLUSION: Test results during the undergraduate medical curriculum in a cohort of undergraduate medical students were strongly predictive of the RNE results. An identifiable group of students with unstable results could benefit from targeted teaching and individual support. The effect of knowledge of their individual position before the RNE remains to be assessed.


Subject(s)
Education, Medical , Educational Measurement/statistics & numerical data , Forecasting , France
8.
Eur Urol ; 41(3): 227-33, 2002 Mar.
Article in English | MEDLINE | ID: mdl-12180220

ABSTRACT

OBJECTIVES: The script concordance (SC) test is designed to measure the organisation of knowledge that allows interpretation of data in clinical reasoning. This study explores the use of this new written examination tool in urology. MATERIALS AND METHODS: An 80 items SC test was administered to participants from a French and a Canadian university. Three levels of experience were tested: urologists (n = 22), residents in urology (n = 25) and students (n = 23). Scores between groups were compared by analysis of variance. Reliability analysis was studied with Cronbach alpha coefficient. RESULTS: Mean global scores were 51.45 +/- 5.29 for students, 58.19 +/- 3.81 for residents and 62.27 +/- 5.46 for urologists. The difference between the three groups was statistically significant (P < 0.00001). Interaction between levels of expertise and sites was apparently not significant (P = 0.326). Cronbach alpha was 0.79 for the test. CONCLUSIONS: This study shows that the SC test is able to discriminate among participants according to their levels of clinical experience in urology. The results are similar in two different learning environments. The SC test appears as a simple and direct approach to testing organisation and use of knowledge in urology.


Subject(s)
Clinical Competence , Educational Measurement/methods , Urology/education , France , Humans , Quebec
9.
Teach Learn Med ; 14(1): 15-9, 2002.
Article in English | MEDLINE | ID: mdl-11865743

ABSTRACT

BACKGROUND: Outpatient consultation constitutes a major part of medical practice. However, little is known about the skills which should be taught to residents in order for them to improve their consultant-referring physician relationships. PURPOSES: To specify the consultant skills which are required to ensure an effective communication between specialists and referring physicians. METHODS: A qualitative study based on (a) a literature search and (b) focus group interviews. RESULTS: Skills thus identified and described are classified in two groups: observable skills and principles/attitudes. CONCLUSIONS: The consensual specification of these abilities permits a greater efficacy in the teaching of consultant skills.


Subject(s)
Clinical Competence , Education, Medical , Internship and Residency/standards , Interprofessional Relations , Learning , Referral and Consultation/standards , Specialization , Ambulatory Care/standards , Attitude of Health Personnel , Canada , Humans , Interviews as Topic
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