RESUMEN
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion of the clinical phenotype. Here we present 18 KBG affected individuals from 13 unrelated families, 16 with pathogenic mutations in the ANKRD11 gene. Consistent features included intellectual disability, macrodontia, and the characteristic broad forehead with hypertelorism, and a prominent nasal bridge. Common features included hand anomalies, cryptorchidism, and a large number of palate abnormalities. Distinctive findings in this series included malrotation of the abdominal viscera, bilateral inguinal herniae in two patients, basal ganglia calcification and the finding of osteopenia in three patients. Nine novel heterozygous variants were found and the genotype-phenotype correlation was explored. This report highlights the need for thorough examination and investigation of the dental and skeletal systems. The results confirm the specificity of ANKRD11 mutations in KBG and further evidence for this transcription repressor in neural, cardiac, and skeletal development. The description of further cases of KBG syndrome is needed to further delineate this condition, in particular the specific neurological and behavioral phenotype.
RESUMEN
Management of obesity requires a multidisciplinary approach including physical activity interventions, which have significant impacts on overall health outcomes. Greater levels of lean muscle mass are significantly associated with improved health and reduced risk of comorbidities and should be preserved where possible when undertaking rapid weight loss. This article reports on the physical and functional outcomes achieved during a 12-week intensive multidisciplinary intervention targeting obesity and evaluates correlations between body composition and functional outcomes. We additionally aimed to investigate the test-retest reliability and levels of agreement in body composition measurements using bioimpedance spectroscopy between seated and standing positions. Of the 35 participants included in analysis, significant differences were observed between baseline and post-intervention measures. These included weight loss of 12.6 kg, waist circumference reduction of 10.5 cm, fat mass reduction by 2.9%, muscle mass increase by 1.6%, 54.5 m improvement in the 6-minute walk test and 3.8 rep improvement in the 30-second sit-to-stand test. No significant correlations were observed between physical and functional outcome measures. Excellent test re-test reliability was observed in bioimpedance spectroscopy seated measurements (ICC >.9). Significant differences were observed between seated and standing bioimpedance spectroscopy measurements, however they are regarded as small differences in a clinical setting.
Asunto(s)
Composición Corporal , Impedancia Eléctrica , Obesidad , Humanos , Femenino , Masculino , Obesidad/terapia , Obesidad/fisiopatología , Persona de Mediana Edad , Adulto , Reproducibilidad de los Resultados , Sedestación , Pérdida de Peso , Circunferencia de la Cintura , Resultado del Tratamiento , Espectroscopía Dieléctrica/métodos , Rendimiento Físico FuncionalRESUMEN
AIM: Very low carbohydrate high fat diets (VLCHF) are increasingly popular for weight loss and diabetes management, but the risk implications of long-term adherence to a high-fat-diet remain unclear, especially in high-risk populations. This review aimed to examine adherence, weight loss, diabetes- and cardiovascular disease (CVD)-related risk markers in adults consuming VLCHF diets. METHODS: Online databases were searched for randomised controlled trials ≥3 months duration that met a pre-defined macronutrient prescription: VLCHF ≤25%E carbohydrate, >35%E fat; low fat (LF) ≥45%E carbohydrate, ≤30%E fat; and reported energy, saturated fat (SFA), weight, blood glucose, cholesterol and blood pressure (BP). Studies were excluded if the macronutrient prescription was not targeted (n = 32); not met (n = 17) or not reported (n = 13). RESULTS: Eight studies included: 1217 commenced; 922 completed overweight and obese adults. Diets were isocaloric moderately energy-restricted, closely monitored with ongoing support from dietitians, physicians, and/or nurses. Four studies reported non-adherence beyond 3 months (n = 3) and 6 months (n = 1) despite interventions of 12, 15 and 24 months. VLCHF diets were high in fat and SFA (fat 49%-56%E; SFA 11%-21%E) compared to LF diets (fat 13%-29%E; SFA 5%-11%E). All groups achieved significant weight loss and improvements in BP and blood glucose. LDL-C reduction favoured LF, P < .05; increased HDL-C and reduced triglyceride levels favoured VLCHF, P < .05. CONCLUSIONS: VLCHF and LF diets with moderate energy restriction demonstrate similar weight loss and improvements to BP to 3 months. However, adherence is likely poor without intensive support from health professionals. Dietary SFA should be monitored to ensure recommended intakes, but longer-term studies with high adherence are required to confirm the level of CVD-risk and potential harms.
Asunto(s)
Biomarcadores/metabolismo , Enfermedades Cardiovasculares/metabolismo , Diabetes Mellitus/metabolismo , Dieta Baja en Carbohidratos , Dieta Alta en Grasa , Pérdida de Peso , Humanos , Medición de RiesgoRESUMEN
AIM: Research is needed to support the long-term benefits of lifestyle interventions for management of high-risk patients with different BMI classifications. This prospective multicentre study assessed two-year outcomes of hospital-referred patients (BMI 25-61 kg/m2 ) attending a dietitian-led multidisciplinary Healthy Eating and Lifestyle Behaviour-Change Program in group or individual formats in hospital outpatient settings. METHODS: Bodyweight, quality of life (Short Form-12) and intuitive eating (Intuitive Eating Scale) data were collected at pre-intervention, post-intervention and 2 years. Outcomes were reported in BMI classes. RESULTS: At pre-intervention (n = 493), 11% had pre-obesity, 25% obesity class I, 30% obesity class II and 34% obesity class III. Characteristics of participants with available data at post-intervention (n = 290) and 2 years (n = 178) were comparable (P > .05). Significant mean weight loss was seen at post-intervention (-2.0 ± 0.4 kg, P < .001, n = 290) and 2 years (-4.3 ± 0.5 kg, P < .001, n = 178). All BMI classes had significant weight losses (P < .05). Participants with higher obesity (classes II and III) had greater improvements in mental quality of life (P < .05) and initial weight reductions (P < .05) than those with lower classes. However, those with obesity class I had the greatest long-term weight reductions and significant improvements in physical quality of life at 2 years (P < .05). All BMI classes reported similar improvements in intuitive eating. No effect was found for differences in intervention format, duration or setting (P > .05). CONCLUSIONS: The results support dietitian-led multidisciplinary lifestyle interventions for multidisciplinary management of high-risk patients of all BMI classes.