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Spastic paraplegia type 3A (SPG3A) is the second most common form of hereditary spastic paraplegia (HSP). This autosomal-dominant-inherited motor disorder is caused by heterozygous variants in the ATL1 gene which usually presents as a pure childhood-onset spastic paraplegia. Affected individuals present muscle weakness and spasticity in the lower limbs, with symptom onset in the first decade of life. Individuals with SPG3A typically present a slow progression and remain ambulatory throughout their life. Here we report three unrelated individuals presenting with very-early-onset (before 7 months) complex, and severe HSP phenotypes (axial hypotonia, spastic quadriplegia, dystonia, seizures and intellectual disability). For 2 of the 3 patients, these phenotypes led to the initial diagnosis of cerebral palsy (CP). These individuals carried novel ATL1 pathogenic variants (a de novo ATL1 missense p.(Lys406Glu), a homozygous frameshift p.(Arg403Glufs*3) and a homozygous missense variant (p.Tyr367His)). The parents carrying the heterozygous frameshift and missense variants were asymptomatic. Through these observations, we increase the knowledge on genotype-phenotype correlations in SPG3A and offer additional proof for possible autosomal recessive forms of SPG3A, while raising awareness on these exceptional phenotypes. Their ability to mimic CP also implies that genetic testing should be considered for patients with atypical forms of CP, given the implications for genetic counseling.
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Depression was already a public health issue before the Covid-19 pandemic. Use of service and treatment adequacy in medical students was poorly known. A 2021 French national study found the prevalence of 12-month major depressive disorder (MDD) was 25 % in medical school students and residents (MSSR). The main objective of our study was to measure the prevalence of service use and adequate treatment (therapy and/or recommended pharmacotherapy) and their associated factors. A national online survey was conducted in 2021. The Composite International Diagnostic Interview Short-Form questionnaire was used to assess MDD; 12-months service use and pharmacotherapy were assessed. Univariate and multivariate logistic regressions were performed between students' demographic characteristics, use of services, and treatment adequacy. Among included MSSR who experienced MDD in the last 12 months, only 32 % received adequate treatment, including 20 % with recommended pharmacotherapy. Being more advanced in medical studies and being treated both by a general practitioner and a psychiatrist were associated with receiving recommended pharmacotherapy. To our knowledge, our study is the largest to assess use of service and treatment adequacy in MSSR. Given the low percentage of depressed students receiving recommended treatment, it seems important to develop new interventions to better detect and treat MDD in MSSR.
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Trastorno Depresivo Mayor , Internado y Residencia , Estudiantes de Medicina , Humanos , Francia/epidemiología , Femenino , Masculino , Estudiantes de Medicina/estadística & datos numéricos , Adulto , Trastorno Depresivo Mayor/epidemiología , Trastorno Depresivo Mayor/terapia , Adulto Joven , Internado y Residencia/estadística & datos numéricos , Encuestas y Cuestionarios , Servicios de Salud Mental/estadística & datos numéricos , COVID-19/epidemiología , Antidepresivos/uso terapéutico , PrevalenciaRESUMEN
INTRODUCTION: Neuromuscular diseases (NMDs) include a large group of heterogeneous diseases. NMDs frequently involve gait disorders, which affect quality of life. Several walking tests and tools have been described in the literature, but there is no consensus regarding the use of walking tests and tools in NMDs or of their measurement properties for walking outcomes. The aim of this review is to present an overview of walking tests, including their measurement properties when used in adults with inherited or genetic NMDs. The aim is to help clinicians and researchers choose the most appropriate test for their objective. EVIDENCE ACQUISITION: A systematic review was conducted after consulting MEDLINE (via PubMed), EMBASE, Science direct, Google Scholar and Cochrane Central Register of Controlled Trials databases for published studies in which walking outcome measurement properties were assessed. The validity, reliability, measurement error and responsiveness properties were evaluated in terms of statistical methods and methodological design qualities using the COnsensus-based Standards for the selection of health Measurement Instruments (COSMIN) guidelines. EVIDENCE SYNTHESIS: We included 46 studies in NMDs. These studies included 15 different walking tests and a wide variety of walking outcomes, assessed with six types of walking tools. Overall, the 6MWT was the most studied test in terms of measurement properties. The methodological design and statistical methods of most studies evaluating construct validity, reliability and measurement error were "very good." The majority of outcome measurements were valid and reliable. However, studies on responsiveness as minimal important difference or minimal important change were lacking or were found to have inadequate methodological and statistical methods according to the COSMIN guidelines. CONCLUSIONS: Most walking outcomes were found to be valid and reliable in NMDs. However, in view of the growing number of clinical trials, further studies are needed to clarify additional measurement properties.
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Enfermedades Neuromusculares , Calidad de Vida , Adulto , Humanos , Reproducibilidad de los Resultados , Caminata , Marcha , PsicometríaRESUMEN
INTRODUCTION: The choice of medical specialization is influenced by various factors, including personal, educational, and interpersonal aspects. However, stereotypes and social representations (SRs) can also play a significant role in biasing the choice of a particular medical specialty. The aim of this study is to describe and understand the social representation (SR) of French Neurologist among medical peers, and factors explaining stereotypes about neurology. METHODS: A nationwide web-based survey was sent to the French medical community (students, residents, and graduated physicians) to collect sociodemographic and professional data, status, experience, and acquaintance in Neurology as well as qualitative hierarchical evocation question to assess the SR of French Neurologists. RESULTS: Overall, 367 people participated in the survey, including 112 medical students, 170 residents, and 85 graduated physicians. Only 14.3% of students listed neurology among their top 5 specialty choices, and 63.8% disagreed with the statement "I could have chosen (or I will choose) neurology after the validation of my 6th year of medical studies." Qualitative analysis revealed that the most frequently occurring words used to describe neurologists were "stroke", "complicated", "no treatment," "clinical", and "brain" and five themes corresponded to SRs of neurologist: his/her personal and professional traits (36.4% of the corpus), his/her daily practice (18.1%), the negative aspects of the neurological practice (15.3%), and the neurological pathology and daily skills (30.2%). CONCLUSION: The perception of neurologists by other physicians is nuanced. Neurologists are described as rigorous specialists, maybe excessively so but the cliché of a contemplative specialty with no effective treatment remains. The specialty and neurological patients suffer also from a reputation of complexity. Further interventions among medical students and better information are required to increase the attractiveness of our specialty.
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Neurología , Médicos , Estudiantes de Medicina , Humanos , Masculino , Femenino , Neurólogos , Neurología/educación , Encuestas y CuestionariosRESUMEN
OBJECTIVES: The perception of oncologists could impact the attractiveness of the specialty and dialogue between oncologists and other physicians. The aim of the study was to describe and understand the stereotypes and social representation (SR) associated with oncologists among medical students, residents and physicians in France. METHODS: This nationwide web-based survey conducted in 2021 was based on hierarchical evocation methods. Qualitative analyses were based on the Reinert method with factorial analyses. Each respondent's SR was graded from 1 to 5 (from 1: very positive SR to 5: very negative SR). RESULTS: Oncologists suffer from a rather negative SR. The negative representation was mostly related to difficulties in practising and the proximity with death and end of life. Oncologists were also associated with more positive notions like interdisciplinarity or intellectual complexity. Attendance to an oncology course was associated with a better SR of oncology (p=0.036), whereas having someone in the family practising oncology had a negative impact (p=0.028). CONCLUSIONS: SR of oncologists is rather contrasted. It was positively influenced by attendance to an oncology course, which could be an option to correct stereotypes and update on this rapidly evolving specialty.
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BACKGROUND: Radiology has always been an attractive specialty for residents, but its attractiveness has recently decreased in France regarding the median choice rank after at the National Residency Board. AIM: To study Radiologists' perceptions and social representations (SRs) among a group of medical students, residents and graduated physicians in France, to better understand the view of Radiologists to debunk stereotypes. METHODS: The nationwide web-based survey was based on valid hierarchical evocation methods. We determined the corpus's central core and SRs' principal themes with prototypical and correspondence factor analysis (CFA), respectively. RESULTS: Overall, 419 answers were analyzed. Radiologists' SRs were divided into 3 classes: negative stereotypes of Radiologists, negative stereotypes of the Radiologists' daily practice and Radiologists' skills. After multivariate analysis, variables that seemed to have a positive influence on Radiologists' SRs were considering radiology as a potential choice of specialty (p < 0.001) and the existence of practical experience in Radiology (p = 0.008). Women seemed to have a more negative SR of Radiologists than men (p = 0.035). DISCUSSION: This was the largest qualitative study on the subject and the only one among medical students, residents and graduated physicians, allowing a global picture. SRs of Radiologists seemed to be negative, potentially caused by poor knowledge of the Radiologists' profession. CONCLUSION: SRs of Radiologists among medical students and graduated physicians appears to be negative. Promoting the specialty among medical students and encouraging their immersion in a Radiology department could help to debunk many stereotypes about the daily life and missions of Radiologists.
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Médicos , Radiología , Estudiantes de Medicina , Masculino , Humanos , Femenino , Radiólogos , Radiología/educación , RadiografíaRESUMEN
OBJECTIVES: This study evaluated the social representation and stereotypes on infectious disease (ID) specialists among medical students and physicians in France after the COVID-19 pandemic. METHODS: A survey applying the hierarchical evocation model assessed the social representations (SRs) of ID specialists. RESULTS: All in all, 372 answers were analyzed. The positive elements related to the personal and professional qualities of ID specialists ('intellectual prestige", "open-mindedness"), in contrast with negative stereotypes related to their perceived daily life and practice characteristics ("hospital-based", "intense", "overspecialized"). Variables such as "I would not have chosen (or I won't choose) ID after the national ranking exam" and "I know someone who is an ID specialist" were associated with worse SR scores (p < 0.001 and p = 0.022 respectively). CONCLUSIONS: These findings provide insights into the attractiveness of ID as a specialty. Rounds in ID departments may enhance the interest of the specialty as a possible residency choice.
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Enfermedades Transmisibles , Médicos , Estudiantes de Medicina , Humanos , Enfermedades Transmisibles/diagnóstico , Pandemias , Encuestas y Cuestionarios , Conocimientos, Actitudes y Práctica en SaludRESUMEN
BACKGROUND: Telerehabilitation could benefit a large population by increasing adherence to rehabilitation protocols. OBJECTIVE: Our objective was to review and discuss the use of cost-utility approaches in economic evaluations of telerehabilitation interventions. METHODS: A review of the literature on PubMed, Scopus, Centres for Review and Dissemination databases (including the HTA database, the Database of Abstracts of Reviews of Effects, and the NHS Economic Evaluation Database), Cochrane Library, and ClinicalTrials.gov (last search on February 8, 2021) was conducted in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. The inclusion criteria were defined in accordance with the PICOS (population, intervention, comparison, outcomes, and study design) system: the included studies had to evaluate patients in rehabilitation therapy for all diseases and disorders (population) through exercise-based telerehabilitation (intervention) and had to have a control group that received face-to-face rehabilitation (comparison), and these studies had to evaluate effectiveness through gain in quality of life (outcome) and used the design of randomized and controlled clinical studies (study). RESULTS: We included 11 economic evaluations, of which 6 concerned cardiovascular diseases. Several types of interventions were assessed as telerehabilitation, consisting in monitoring of rehabilitation at home (monitored by physicians) or a rehabilitation program with exercise and an educational intervention at home alone. All studies were based on randomized clinical trials and used a validated health-related quality of life instrument to describe patients' health states. Four evaluations used the EQ-5D, 1 used the EQ-5D-5L, 2 used the EQ-5D-3L, 3 used the Short-Form Six-Dimension questionnaire, and 1 used the 36-item Short Form survey. The mean quality-adjusted life years gained using telerehabilitation services varied from -0.09 to 0.89. These results were reported in terms of the probability that the intervention was cost-effective at different thresholds for willingness-to-pay values. Most studies showed results about telerehabilitation as dominant (ie, more effective and less costly) together with superiority or noninferiority in outcomes. CONCLUSIONS: There is evidence to support telerehabilitation as a cost-effective intervention for a large population among different disease areas. There is a need for conducting cost-effectiveness studies in countries because the available evidence has limited generalizability in such countries. TRIAL REGISTRATION: PROSPERO CRD42021248785; https://tinyurl.com/4xurdvwf.
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Two-thirds of people with Multiple Sclerosis (PwMS) have walking disabilities. Considering the literature, prolonged tests, such as the 6 min walk test, better reflect their everyday life walking capacities and endurance. However, in most studies, only the distance traveled during the 6MWT was measured. This study aims to analyze spatio-temporal (ST) walking patterns of PwMS and healthy people in the 6MWT. Participants performed a 6MWT with measures of five ST variables during three 1 min intervals (initial: 0'-1', middle: 2'30â³-3'30â³, end: 5'-6') of the 6MWT, using the GAITRite system. Forty-five PwMS and 24 healthy people were included. We observed in PwMS significant changes between initial and final intervals for all ST parameters, whereas healthy people had a rebound pattern but the changes between intervals were rather negligible. Moreover, ST variables' changes were superior to the standard measurement error only for PwMS between initial and final intervals for all ST parameters. This result suggests that the modification in PwMS' walking pattern is effectively due to their walking ability and not to a measurement, and suggests that PwMS could not manage their walking efficiently compared to healthy people, who could maintain their rhythm throughout the 6MWT. Further studies are needed to detect these patterns changes in the early evolution of the disease, identify clinical determinants involved in PwMS' walking pattern, and investigate whether interventions can positively impact this pattern.
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Esclerosis Múltiple , Caminata , Humanos , Prueba de Paso , Esclerosis Múltiple/diagnóstico , Estado de Salud , Limitación de la MovilidadRESUMEN
INTRODUCTION: In posttraumatic wrist arthritis of intermediate severity, two main palliative procedures are used to preserve some mobility in the wrist: proximal row carpectomy (PRC) and scaphoid excision followed by four corner arthrodesis (4CA). Despite satisfactory overall results, the debate continues about which one provides the best results and long-term outcomes, particularly prevention of arthritis progression. Recent comparative studies now provide us with information about mid- and long-term results. The aim of this study was to compare the clinical results, complications, conversion rate to total wrist arthrodesis and progression to osteoarthritis of PRC versus 4CA in the medium and long term. HYPOTHESIS: The null hypothesis was that there is no significant difference between PRC and 4CA in the clinical results, complications, conversion to total wrist arthrodesis and arthritis progression. MATERIALS AND METHODS: A systematic literature review was carried out by following the PRISMA guidelines. Included were studies comparing 4CA and PRC for the treatment of post-traumatic wrist arthritis secondary to scapholunate dissociation (SLAC) and scaphoid nonunion (SNAC) with a mean follow-up of 5 years. A search was performed of the MEDLINE, EMBASE and Cochrane databases that identified 831 articles. After removing 230 duplicates and excluding 595 articles based on their title and/or abstract, and then adding 1 article manually, 7 articles were included in our analysis. Parameters analyzed were range of motion (ROM), pain, grip strength, functional scores, complications, conversion to total wrist arthrodesis, and arthritis progression. RESULTS: In the 7 articles, 1059 wrists - 582 PRC and 477 4CA - were analyzed with follow-up ranging from 5.2 to 18 years. PRC produced significantly better ROM in flexion (weighted mean difference [WMD]=10.0°; p<0.01) and in ulnar deviation (WMD=8.7°; p<0.01) along with significantly lower complication rates (OR=0.3; p<0.01) and reoperation rates (OR=0.1; p<0.01). There was no significant difference in the conversion rate, grip strength, extension, radial deviation, pain, DASH and PRWE scores. The progression of osteoarthritis could not be analyzed due to lack of data. DISCUSSION: This meta-analysis was the first to include recently published mid- and long-term studies comparing PRC and 4CA. The main finding is that PRC is superior overall with better ROM and a lower complication rate. Another important finding was the absence of differences in grip strength and the conversion rate to total wrist arthrodesis. Unfortunately, the lack of systematic studies on arthritis progression leaves this question unanswered. Our findings must be interpreted cautiously because it was impossible to stratify the cases by etiology and osteoarthritis stage. LEVEL OF EVIDENCE: III; systematic review and meta-analysis.
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Huesos del Carpo , Osteoartritis , Hueso Escafoides , Humanos , Huesos del Carpo/cirugía , Muñeca , Resultado del Tratamiento , Artrodesis/métodos , Hueso Escafoides/cirugía , Articulación de la Muñeca/cirugía , Osteoartritis/etiología , Osteoartritis/cirugía , Rango del Movimiento Articular , Fuerza de la Mano , DolorRESUMEN
BACKGROUND: Medical students' mental health is a public health problem that has worsened with COVID 19's pandemic. There is a lack of French data. The principal aim was to assess French medical students' mental health. METHODS: An online cross-sectional survey was performed between May 27 and June 27, 2021. An anonymous questionnaire was sent via academic email addresses by medical faculties and secondly on social media. We assessed 7-day anxiety and depressive symptoms were evaluated with the Hospitalization Anxiety and Depression scale, 12-month major depressive episode (MDE) with the Composite International Diagnostic Interview- Short Form, burnout with the Maslach Burnout Inventory, 12-month suicidal ideation, humiliation, sexual harassment, and sexual aggression during their curriculum. Multivariable logistic regression was performed to identify main MDE associated factors. OUTCOMES: 11,754 participants (response rate: 15.3%) were included. Prevalence of 7-day anxiety symptoms, 7-day depressive symptoms, 12-month MDE, and 12-month suicidal thoughts were 52%, 18%, 25%, and 19% respectively. Burnout syndrome concerned 67% of clinical students and residents and 39% of preclinical students. Prevalence of humiliation, sexual harassment, and sexual abuse during their curriculum were 23%, 25%, and 4%, respectively. Having important (OR = 1.44, IC 95 [1.31-1.58], p < 0.001) or very important financial issues (OR = 2.47, IC 95 [2.15-2.85], p < 0.001), experienced humiliation (OR = 1.63, IC 95 [1.46-1.81], p < 0.001), sexual harassment (OR = 1.43, IC 95 [1.28-1.59], p < 0.001) and sexual abuse (OR = 1.52, IC 95 [1.24-1.85], p < 0.001) were associated with an increased risk of MDE. INTERPRETATION: This is the largest study on French medical students' mental health. These results point to very particular conditions in French students environment that need to be addressed to improve their mental health.
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Agotamiento Profesional , COVID-19 , Trastorno Depresivo Mayor , Estudiantes de Medicina , Agotamiento Profesional/psicología , Estudios Transversales , Depresión/epidemiología , Depresión/psicología , Humanos , Salud Mental , Estudiantes de Medicina/psicología , Encuestas y CuestionariosAsunto(s)
Cromosomas Humanos Par 4 , Homocigoto , Distrofia Muscular de Cinturas/diagnóstico , Distrofia Muscular de Cinturas/genética , Mutación , Disomía Uniparental , Proteínas de Transporte Vesicular/genética , Sustitución de Aminoácidos , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Recién Nacido , Masculino , Fenotipo , Secuenciación del ExomaRESUMEN
BACKGROUND: Walking disorders represent the most disabling condition in persons with Multiple Sclerosis (PwMS). Several studies showed good reliability of the 6-min walk test (6MWT) (i.e., especially distance traveled), but little is known about the reliability of the Spatio-temporal (ST) variables in the 6MWT. OBJECTIVE: To evaluate the test-retest reliability of ST variables and perceived exertion during the 6MWT in PwMS and comparable healthy persons. METHODS: We explored three 1-min intervals (initial: 0'-1', middle: 2'30â³-3'30â³, end: 5'-6') of the 6MWT. Six ST variables and perceived exertion were measured (respectively, using the GAITRite system and the Borg Scale). These measurements were performed twice, 1 week apart. The test-retest effects were assessed using the intraclass correlation coefficient (ICC) or the weighted kappa. RESULTS: Forty-five PwMS and 24 healthy persons were included. The test-retest reliability of ST variables values was good-to-excellent for PwMS (ICC range: 0.858-0.919) and moderate-to-excellent for healthy persons (ICC range: 0.569-0.946). The test-retest reliability values of perceived exertion were fair for PwMS (weighted kappa range: 0.279-0.376) and substantial for healthy persons (weighted kappa range: 0.734-0.788). CONCLUSION: The measurement of ST variables during these 6MWT intervals is reliable and applicable in clinical practice and research to adapt rehabilitation care in PwMS.
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Personas con Discapacidad , Esclerosis Múltiple , Prueba de Esfuerzo , Humanos , Esclerosis Múltiple/diagnóstico , Reproducibilidad de los Resultados , Prueba de Paso , CaminataRESUMEN
The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or focal cortical dysplasia. We report here the case of a patient, with an MTOR mosaic gain-of-function variant (p.Glu2419Lys) in the DNA of 41% skin cells, who received compassionate off-label treatment with everolimus for refractory epilepsy. This 12-year-old-girl presented with psychomotor regression, intractable seizures, hypopigmentation along Blaschko's lines (hypomelanosis of Ito), asymmetric regional body overgrowth, and ocular anomalies, as well as left cerebral hemispheric hypertrophy with some focal underlying migration disorders. In response to the patient's increasingly frequent epileptic seizures, everolimus was initiated (after approval from the hospital ethics committee) at 5 mg/day and progressively increased to 12.5 mg/day. After 5 months of close monitoring (including neuropsychological and electroencephalographic assessment), no decrease in seizure frequency was observed. Though the physiopathological rationale was good, no significant clinical response was noticed under everolimus treatment. A clinical trial would be needed to draw conclusions, but, because the phenotype is extremely rare, it would certainly need to be conducted on an international scale.