Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome.

Familial partial lipodystrophy are Mendelian disorders involving abnormal body fat distribution and insulin resistance. The current classification includes the Köbberling syndrome (type 1 familial partial lipodystrophy), characterized by fat loss in the lower limbs and abnormal fat accumulation in other areas. Type 1 familial partial lipodystrophy appears to be heritable, but little is known about it, including putative contributing mutations. We aimed to characterize this syndrome better by evaluating a group of women with phenotypic features of type 1 familial partial lipodystrophy. This is a case-controlled study in which 98 women with type 1 familial partial lipodystrophy that lacked classical mutations known to cause familial partial lipodystrophy were compared with 60 women without lipodystrophy and 25 patients with type 2 familial partial lipodystrophy (Dunnigan disease). Clinical course, body composition by dual-energy X-ray absorptiometry, HbA1c, lipid profile, insulin, leptin and family history were evaluated in all of the participants. Analyses of receiver-operating characteristic curve were performed for type 1 familial partial lipodystrophy diagnosis, comparing different truncal/limbs ratios. Among patients with type 1 familial partial lipodystrophy, 68 % developed recognizable lipodystrophy before adolescence, and most displayed an autosomal-dominant pattern (86 %). Women with type 1 familial partial lipodystrophy had less lower-limb adipose tissue than women without lipodystrophy, but significantly more than patients with Dunnigan disease. Moreover, metabolic disturbances occurred more frequently in the type 1 familial partial lipodystrophy group (81 %) than in the non-lipodystrophic group (30 %, p<0.05). The severity of metabolic disturbances was inversely proportional to the percentage of fat in the lower extremities and directly proportional to the amount of visceral adipose tissue. Metabolic profiles were worse in type 1 familial partial lipodystrophy than in Dunnigan disease. According to the receiver-operating characteristic curve analysis, the best ratio was subscapular/calf skinfolds (KöB index), with a cut-off value of 3.477 (sensitivity: 89 %; specificity: 84 %). Type 1 familial partial lipodystrophy was an early-onset, autosomal-dominant lipodystrophy, characterized by fat loss in the lower limbs and abnormal fat accumulation in the abdominal visceral region, associated to insulin resistance and metabolic disorders. A KöB index >3.477 is highly suggestive of this syndrome.

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.

Lipodystrophies are a group of diseases mainly characterized by a loss of adipose tissue and frequently associated with insulin resistance, hypertriglyceridemia, and hepatic steatosis. In uncommon lipodystrophies, these complications frequently are difficult to control with conventional therapeutic approaches. This retrospective study addressed the effectiveness of recombinant methionyl leptin (metreleptin) for improving glucose metabolism, lipid profile, and hepatic steatosis in patients with genetic lipodystrophic syndromes. We studied nine patients (five females and four males) with genetic lipodystrophies [seven with Berardinelli-Seip syndrome, one with atypical progeroid syndrome, and one with type 2 familial partial lipodystrophy (FPLD)]. Six patients were children under age 9 years, and all patients had baseline triglycerides levels >2.26 mmol/L and hepatic steatosis; six had poorly controlled diabetes mellitus. Metreleptin was self-administered subcutaneously daily at a final dose that ranged between 0.05 and 0.24 mg/(kg day) [median: 0.08 mg/(kg day)] according to the body weight. The duration of treatment ranged from 9 months to 5 years, 9 months (median: 3 years). Plasma glucose, hemoglobin A1c (Hb A1c), lipid profile, plasma insulin and leptin, and hepatic enzymes were evaluated at baseline and at least every 6 months. Except for the patient with FPLD, metreleptin replacement significantly improved metabolic control (Hb A1c: from 10.4 to 7.1 %, p < 0.05). Plasma triglycerides were reduced 76 % on average, and hepatic enzymes decreased more than 65 %. This study extends knowledge about metreleptin replacement in genetic lipodystrophies, bearing out its effectiveness for long periods of time.

El relato audiovisual para el aprendizaje de la aplicación del desfibrilador externo semiautomático en el soporte vital / Audiovisual storytelling for learning external semi automatic defibrillator in life support

Introducción: El uso de relatos audiovisuales para la transmisión de conocimiento ha sido validado positivamente, en especial en lo que se refiere a recuerdo por parte del receptor. Objetivo: Evaluar la eficacia del montaje audiovisual y la inclusión de la figura del experto en el aprendizaje de técnicas de soporte vital. Sujetos y métodos: Se realizan dos versiones de relato audiovisual encaminadas a transmitir el buen uso del desfibrilador, de forma que dos grupos de individuos tendrán acceso a una pieza con un desarrollo formal de planificación audiovisual simple y otros dos visionarán la pieza con un desarrollo formal más cinematográfico y que además incluye la figura de un experto al final del montaje. Se evalúan variables como tiempo que necesitan para realizar la prueba, calidad, seguridad y recuerdo. Resultados: En el momento de finalización de la proyección, el 69,23% de los sujetos que vieron el video simple y sin experto cumplen con el objetivo. En lo referente al grupo que visionó el vídeo con montaje y experto, en el momento de finalización de la proyección el 73,68% de los sujetos cumplen el objetivo y emplean una media de 10 segundos menos respecto a los que no lo cumplen. Conclusiones: La implementación de técnicas de montaje audiovisual y de la figura del experto mejora la calidad del aprendizaje tanto en lo que se refiere a la capacidad de transmitir contenidos como en su recuerdo

Introduction: The use of audiovisual storytelling for the transmission of knowledge has been positively validated, especially with regard to remembrance on the part of the recipient. Aim: To evaluate the effectiveness of the audiovisual editing, as well as the inclusion of the figure of the expert, in the learning of life support techniques. Subjects and methods: Two versions of audiovisual narrative are made, aimed at transmitting the good use of the defibrillator and submitting four groups of individuals to the viewing of one of the two pieces, so that two groups will have access to a piece with a formal development of simple audiovisual editing and the other two will watch the piece with a more cinematographic formal development, that also includes the figure of an expert at the end of the sequence. Results: At the end of the projection, 69.23% of the subjects who watched the simple and without-an-expert video met the target. Regarding the group that watched the video with video editing and with an expert, at the time of completion of the projection, 73.68% of the subjects met the target, requiring besides an average of 10 seconds less than those who did not meet it. Conclusions: The implementation of audiovisual editing techniques and of the figure of the expert improves the quality of learning both in terms of the ability to transmit content and in terms of its recollection