Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

[Clinical management of homocystinuria: case report and review of the literature]. / Homocistinuria; curso clínico y tratamiento dietético: a propósito de dos casos.

Homocystinuria is a congenital disorder of methyonine metabolism that leads to increased plasmatic, urinary and tissue deposits of methyonine and its main metabolite: homocysteine. Homocysteine deposits are toxic for the skeletal system (osteoporosis), the eyes (lens dislocation), central nervous system (seizures, psychiatric disorders) and also induce vascular damage (stroke and other cardiovascular events). This article reports two patients with homocystinuria in two siblings, followed by a concise review on the therapeutic strategies available for this disorder.

[Assessment of a malnutrition screening tool in cancer patients]. / Utilidad de un método de cribado de malnutrición en pacientes con cáncer.

UNLABELLED: 40-80% of cancer patients suffer from diverse degrees of malnutrition, depending on tumor subtype, location and staging and treatment strategy. Malnutrition is associated with increased morbidity and mortality in cancer patients. Both the high prevalence and prognostic significance of malnutrition imply the need for accurate malnutrition screening in cancer patients, which could select those patients at risk of nutritional derangements who would benefit from nutritional therapy. Patient-generated subjective global screening (VSG-GP) remains the reference malnutrition screening method, but its complexity and training requirements prevent wider applicability by oncologists. Thus, easier, more clinic-based malnutrition screening tools are required for cancer patients. In this article we propose a basic screening tool based on three items: weight loss, changes in physical activity and decrease in food intake. Two affirmative responses out of the three questions is considered as a positive response, and would prompt expert nutritional assessment. RESULTS: Our screening interview showed positive correlation with VSG-GP (ROC 0.85, p<0.001) and allowed for a rapid and accurate identification of patients with cancer-related malnutrition.

[Postsurgical chylous ascites: case report and literature review]. / Tratamiento dietético de la ascitis quilosa postquirúrgica: caso clínico y revisión de la literatura.

Chylous ascites derives from chyle leakage into the peritoneal cavity, either due to rupture or obstruction of abdominal lymphatic vessels. The main clinical sign is abdominal distention, while diagnosis requires the presence of triglycerides in ascitic fluid. Neoplasms are the most common cause of chylous ascites, although less common causes, such as abdominal surgery, should also be considered. The mainstay of therapy is hyperproteic diet with fat restriction and middle-chain triglycerides. Parenteral nutrition is reserved for cases in which dietary treatment fails to restore an optimal nutritional status or is contraindicated, whereas surgery is considered for patients that are deemed refractory to conservative therapy. We present a case of chylous ascites secondary to retroperitoneal lymphadenectomy.

[Obesity and menopause]. / Obesidad y menopausia.

Menopause is one of the critical periods of a woman's life during which weight gain and onset or worsening of obesity are favoured. It is at this period when obesity prevalence is the highest. There are several causes for this disorder, ones clearly related with hypo-oestrogenism and others depend on age favouring increased food intake and decreased energy waste. This weight gain is related to adverse health effects that get worse due to changes in fat distribution observed during menopause. The increase in visceral fat favours the development of insulin resistance and its clinical consequences such as carbohydrate metabolism impairments and type 2 diabetes, arterial hypertension, and dyslipidaemia, leading to increased cardiovascular risk, among other complications.