[Combined methylmalonic acidemia and homocystinuria; a case report]. / Combinación de acidemia metilmalónica y homocisteinuria; a propósito de un caso.

Combined methylmalonic acidemia and homocystinuria is an inborn error of metabolism of vitamin B12 or cobalamin. It's a rare autosomal recessive disease in which there are several variants depending on the pathogenesis of the metabolic disorder (cblC, cblD, cblF and cblJ). The more frequent and more severe is the cblC variant, which usually manifests in the first months of life, although some cases have been reported at the beginning of adulthood. A proper diagnosis and effective therapeutic approach is fundamental. We report the case of a patient of 18 years with a history of epilepsy who consults for acute renal failure requiring renal replacement therapy and diagnosed with combined methylmalonic acidemia and homocystinuria cblC variant.

La combinación de homocistinuria con acidemia metilmalónica es un error congénito del metabolismo de la vitamina B12 o cobalamina. Es una patología poco frecuente de herencia autosómica recesiva en la que existen diversas variantes en función de la patogenia del trastorno metabólico (cblC, cblD, cblF y cblJ). La más frecuente y más grave es la variante cblC, que suele manifestarse en los primeros meses de vida, aunque se han reportado casos al inicio de la edad adulta. Se hace fundamental un correcto diagnóstico y un abordaje terapéutico eficaz. Presentamos el caso clínico de una paciente de 18 años con antecedentes personales de epilepsia que acude por fracaso renal agudo con necesidad de terapia renal sustitutiva diagnosticándose de homocistinuria con acidemia metilmalónica variante cblC.

Endocrine diagnosis and treatment of sellar lesions in pediatric age.

INTRODUCTION: Sellar masses are an heterogeneous group of lesions, both in nature and management. Not all of them require surgery. OBJECTIVES: To describe the presenting symptoms of sellar masses and endocrine abnormalities occurring during follow-up. To emphasize the significance of endocrine assessment, and to identify lesions amenable to hormonal treatment. PATIENTS AND METHODS: A retrospective review of the records of children under 14 years of age referred to our center for sellar lesions during 12 years. Data collected included sex, age, nature of lesion, clinical presentation, size, treatment, and endocrine abnormalities. RESULTS: Forty-five patients (25 females) aged 7.2 ± 4.1 years (range 0.25-13.5) were enrolled. Follow-up time was 6.2 ± 3.7 years. Lesion nature was known in 39 cases, 4 of which were successfully treated at the Endocrinology Department: 3 prolactinomas (with dopamine agonist) and one thyrotroph cell hyperplasia (with levothyroxine). The most common presenting symptoms were neurological and/or visual (25/45), followed by endocrine conditions (13/45). Duration of endocrine and neuro-ophthalmic symptoms was 12.6 ± 18.2 months and 2.6 ± 4.9 (P=.012), respectively. Some endocrine condition was found in 24/45 patients at the initial evaluation and in 37/45 patients at the end of follow-up. CONCLUSIONS: Management of sellar lesions requires a multidisciplinary effort. Endocrine tests are indispensable to identify lesions amenable to hormonal treatment. Endocrine disorders usually occurred before neurological and ophthalmological symptoms, and their identification may therefore allow for earlier diagnosis. Hormone assessment should be regularly performed during follow-up.

[Intraluminal/endoscopic procedures in the treatment of obesity]. / Procedimientos endoluminales/endoscópicos en el tratamiento de la obesidad.

Few effective therapeutic tools are currently available to fight the increasing prevalence of obesity and its associated comorbidities. Bariatric surgery is the only treatment with proven long-term effectiveness, but is associated to a high surgical risk and significant economic costs because of its technical complexity and the characteristics of patients. This is leading to development of new endoscopic procedures with less clinical risks and economic costs, while maintaining the benefits in terms of morbidity and mortality, which could even serve as a bridging element before surgery in cases where this is unavoidable, allowing for preoperative weight loss and control of comorbidities in order to improve anesthetic risks and possible complications. The purpose of this review was to analyze the most relevant and promising endoscopic techniques currently available.

Resolution of type 2 diabetes and prediabetes following laparoscopic sleeve gastrectomy: medium term results.

PURPOSE: To determine the impact of Laparoscopic Sleeve Gastrectomy (LSG) on the resolution of type 2 diabetes (T2DM) and Prediabetes (PDM) in obese patients, as well as potential improvements in other comorbidities. MATERIAL AND METHODS: Observational retrospective study. We studied all patients with T2DM (n= 36) or PDM (n= 44) who underwent LSG in our hospital between years 2009 and 2012. PDM was defined as having at least 2 values of HbA1c between 5.7 and 6.4%. Follow-up period was 1-4 years (mean 17.5 months). T2DM remission criteria were fasting plasma glucose (FPG).

Objetivos: Evaluar la efectividad de la gastroplastia tubular laparoscópica (GTL) en la resolución de la diabetes tipo 2 (DM2), de la prediabetes (PDM) y de otras comorbilidades en pacientes obesos. Material y métodos: Estudio observacional retrospectivo. Se incluyeron a los pacientes con DM2 (n= 36) o PDM (n= 44) que fueron sometidos a GTL en nuestro hospital entre 2009 y 2012. Se consideró criterio de PDM presentar HbA1c entre 5.7-6.4% en al menos dos ocasiones. Periodo de seguimiento entre 1-4 años (media 17.5 meses). Como criterio de resolución de la DM2 se consideró presentar HbA1c.