Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.

OBJECTIVE: Underdiagnosis is an important issue in genetic lipodystrophies, which are rare diseases with metabolic, cardiovascular, gynecological, and psychological complications. We aimed to characterize the diagnostic pathway in these diseases from the patients' perspective. DESIGN: Cross-sectional study conducted through a self-reported patient questionnaire. METHODS: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity. Patients completed a self-reported questionnaire on disease symptoms, steps leading to the diagnosis, and healthcare professionals involved. Descriptive analyses were conducted. RESULTS: Out of 175 eligible patients, 109 patients (84% women) were included; 93 had partial familial lipodystrophy and 16 congenital generalized lipodystrophy. Metabolic comorbidities (diabetes 68%, hypertriglyceridemia 66%, hepatic steatosis 57%), cardiovascular (hypertension 54%), and gynecologic complications (irregular menstruation 60%) were frequently reported. Median age at diagnosis was 30 years (interquartile range [IQR] 23-47). The overall diagnostic process was perceived as "very difficult" for many patients. It extended over 12 years (IQR 5-25) with more than five different physicians consulted by 36% of respondents, before diagnosis, for lipodystrophy-related symptoms. The endocrinologist made the diagnosis for 77% of the patients. Changes in morphotype were reported as the first symptoms by the majority of respondents. CONCLUSIONS: Diagnostic pathway in patients with genetic lipodystrophy is rendered difficult by the multisystemic features of the disease and the lack of knowledge of non-specialized physicians. Training physicians to systematically include adipose tissue examination in routine clinical evaluation should improve diagnosis and management of lipodystrophy and lipodystrophy-associated comorbidities.

Test-retest reliability of an instrumented electronic walkway system (GAITRite) for the measurement of spatio-temporal gait parameters in young patients with Friedreich's ataxia.

BACKGROUND: Friedreich ataxia (FRDA) affects the spatio-temporal parameters (STP) of gait. To our knowledge, proper tools to measure the variability of ataxic gait have not been validated yet. The aims of the present study were: (1) to measure the reproducibility of STP and gait scores in young patients with FRDA and (2) to describe the characteristics of gait parameters in this population. METHODS: Thirty-six patients (18 males, 18 females) with diagnosis of FRDA (mean age 16.4 ± 4.5 years) were asked to walk barefoot at a self-selected pace along the pressure sensitive walkway (GAITRite®). Three trials were recorded for each patient and repeated 48 h later. Collected data was put into statistical analysis tests to determine reliability and variability of STPs and two other gait scores: The Functional Ambulation Performance score (FAP) and the Gait Variability Index (GVI). RESULTS: All STPs showed strong or very strong reliability (ICC > 0.7) and a low variability. The two parameters showing the lowest reliability (0.71 and 0.74) were the base of support and the foot progression angle. The FAP score and the GVI showed strong reliability (ICC > 0.8). CONCLUSIONS: The GAITRite system allows feasible and reliable measurements of gait parameters in young patients with FRDA. Lower reliability found for the weakest parameters was attributed to the software automatic errors and the ankle laxity noted in every patient.

Identification of women at high risk for severe perineal lacerations.

OBJECTIVES: To evaluate the frequency and to identify the risk factors of severe perineal lacerations and the subgroup of women exposed to the highest risk for these complications. STUDY DESIGN: We conducted a case-control study in a large cohort of women for which vaginal delivery management consisted in systematic perineal support and restrictive use of mediolateral episiotomy. The case group comprised women with severe perineal lacerations while the control group comprised women without severe perineal lacerations. Maternal, labor, delivery and neonatal characteristics were analyzed in logistic regression models and a classification and regression tree (CART) was constructed. RESULTS: Between 2000 and 2009, 19,442 women delivered vaginally in our centre, 88 of whom had severe perineal lacerations (0.5%). Instrumental delivery (aOR 4.17, 95% CI 2.51-6.90), nulliparity (aOR 2.58, 95% CI 1.55-4.29), persistent posterior orientation (aOR 2.24, 95% CI 1.02-4.94) and increased birth weight (aOR 1.28, 95% CI 1.03-1.60) were independent risk factors of severe perineal lacerations whereas mediolateral episiotomy had a protective effect (aOR 0.38, 95% CI 0.23-0.63). CART identified instrumental delivery of neonates smaller than 4500 g in persistent posterior orientation in nullipara without mediolateral episiotomy as the clinical situation associated with the highest risk of severe perineal lacerations (12.5%). Conversely, patients with the lowest risk (0.1%) were those delivering spontaneously, neonates larger than 3200 g after mediolateral episiotomy. CONCLUSIONS: Instrumental delivery, nulliparity, persistent posterior orientation and increased birth weight are independently associated with severe perineal lacerations. Restrictive use of mediolateral episiotomy protects against severe perineal lacerations especially in case of instrumental delivery.

Adult social and professional outcomes of pediatric renal transplant recipients.

BACKGROUND: Little is known about the socioprofessional situation of adult-aged kidney-transplanted children. This nationwide French cohort study documented the socioprofessional outcomes of adults who underwent kidney transplantation before age 16 years between 1985 and 2002. METHODS: Of 890 patients, 624 were eligible for a questionnaire and 374 completed it (response rate=60%; men=193 and women=181). The data were compared with the French general population using an indirect standardization matched for gender, age, and period. RESULTS: The median ages were 27.1 years at survey time and 12.3 years at first transplantation. Of the participants, 31.1% lived with a partner (vs. 52.2%; P<0.01) and 35.7% lived with their parents (vs. 21.0%; P<0.01). When standardized for parental educational level, fewer participants had a high-level degree (≥3-year university level) and fewer women had a baccalaureate degree. Professional occupations were similar to the French general population, but unemployment was higher (18.5% vs. 10.4%; P<0.01). Independent predictive factors for poor socioprofessional outcome were primary disease severity (onset in infancy or hereditary disease), the presence of comorbidities or sensorial disabilities, low educational level of the patient or his parents, female gender, and being on dialysis after graft failure. CONCLUSIONS: Transplanted children, particularly girls and patients with low parental educational levels, require optimized educational, psychologic, and social support to reach the educational level of their peers. This support should be maintained during adulthood to help them integrate into the working population and build a family.