Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.

INTRODUCTION: Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an elevation of methylmalonic acid (MMA) and homocysteine and a decreased production of methionine. The aim is to review existing scientific literature of all late onset cblC patients in terms of clinical symptoms, diagnosis, and outcome. METHODS: A bibliographic database search was undertaken in PubMed (MEDLINE) complemented by a reference list search. We combined search terms regarding cblC disease and late onset. Two review authors performed the study selection, data extraction and quality assessment. RESULTS: Of the sixty-five articles included in this systematic review, we collected a total of 199 patients. The most frequent clinical symptoms were neuropathy/myelopathy, encephalopathy, psychiatric symptoms, thrombotic microangiopathy, seizures, kidney disease, mild to severe pulmonary hypertension with heart failure and thrombotic phenomena. There were different forms of supplementation used in the different studies collected and, within these studies, some patients received several treatments sequentially and/or concomitantly. The general outcome was: 64 patients recovered, 78 patients improved, 4 patients did not improve, or the disease progressed, and 12 patients died. CONCLUSIONS: Most scientific literature regarding the late onset cblC disease comes from case reports and case series. In most cases treatment initiation led to an improvement and even recovery of some patients. The lack of complete recovery underlines the necessity for increased vigilance in unclear clinical symptoms for cblC disease.

[Malnutrition management of hospitalized patients with diabetes/hyperglycemia and cancer cachexia]. / Abordaje de la desnutrición en pacientes hospitalizados con diabetes/hiperglucemia y caquexia tumoral.

Introduction: Diabetes is a frequent comorbidity in cancer patients, since they share common risk factors. In cancer, the concurrence of cachexia represents a poor prognostic factor, which is aggravated by poor nutritional status. Clinically, cancer cachexia manifests as a significant reduction in body weight, accompanied by changes in body composition and alterations in the balance of the biological system, and causes progressive dysfunction. This article describes the results of the expert consensus and the responses of the panelists on the nutritional management in routine clinical practice of patients with diabetes/hyperglycemia hospitalized (non-critically ill) with cancer cachexia.

Introducción: La diabetes es una comorbilidad frecuente en pacientes con cáncer, ya que comparten factores de riesgo comunes. En la enfermedad oncológica, la presencia de caquexia tumoral representa un factor de mal pronóstico, que se ve agravado por un estado nutricional deficiente. Clínicamente, la caquexia se manifiesta como una reducción significativa del peso corporal, acompañado de cambios en la composición corporal y alteraciones en el equilibrio del sistema biológico, y causa una disfunción progresiva. El presente artículo describe los resultados del consenso de expertos y las respuestas de los panelistas sobre el manejo nutricional en la práctica clínica habitual de los pacientes con diabetes/hiperglucemia hospitalizados en planta (no críticos) con caquexia tumoral concurrente.

[Malnutrition management of hospitalized patients with diabetes/hyperglycemia and liver cirrhosis]. / Abordaje de la desnutrición en pacientes hospitalizados con diabetes/hiperglucemia y cirrosis hepática.

Introduction: Liver cirrhosis is a progressive and chronic disease of the liver, of diverse etiology, which is frequently associated with glucose intolerance and in some cases concurs with type 2 diabetes (DM2). DM2 is associated with adverse outcomes in patients with cirrhosis, including a higher rate of hospitalizations, a higher prevalence of hepatocellular carcinoma, and an increased risk of mortality. Malnutrition is another frequent complication of cirrhosis, the prevalence of which increases with the degree of liver dysfunction, worsening the prognosis. This article describes the results of the expert consensus and the responses of the panelists on the nutritional management in routine clinical practice of patients with diabetes/hyperglycemia hospitalized (non-critically ill) with liver cirrhosis.

Introducción: La cirrosis hepática es una enfermedad progresiva y crónica del hígado, de etiología diversa, que se asocia frecuentemente con intolerancia a la glucosa y en algunos casos concurre con diabetes tipo 2 (DM2). La DM2 se asocia con resultados adversos en pacientes con cirrosis, incluyendo una mayor tasa de ingresos hospitalarios, una mayor prevalencia de carcinoma hepatocelular y un mayor riesgo de mortalidad. La desnutrición es otra complicación frecuente en la cirrosis, cuya prevalencia aumenta con el grado de disfunción hepática, empeorando el pronóstico. El presente artículo describe los resultados del consenso de expertos y las respuestas de los panelistas sobre el manejo nutricional en la práctica clínica habitual de los pacientes con diabetes/hiperglucemia hospitalizados en planta (no críticos) con cirrosis hepática.

Late-onset methylmalonic acidemia and homocysteinemia.

INTRODUCTION: Introduction: cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalonic acidemia and homocystinuria. Its late clinical presentation is heterogeneous and may lead to a diagnostic delay. Case report: we report the case of a 45-year-old man with a 20-year history of chronic kidney disease and recently diagnosed spastic paraparesis, both of unknown origin. Metabolic studies revealed elevated levels of homocysteine and methylmalonic acid in the blood and urine. A genetic study confirmed cobalamin C deficiency. Treatment with hydroxocobalamin, betaine, carnitine, and folic acid was started. The patient eventually received a kidney transplant. Discussion: early diagnosis and appropriate treatment improve the clinical evolution of patients with Cbl C deficiency. Determination of homocysteine, organic acids, and other amino acids should be included in the differential diagnosis of patients with nephrological-neurological symptoms without a clear etiology.

INTRODUCCIÓN: Introducción: la deficiencia de cobalamina C (Cbl C) es el defecto más común en el metabolismo intracelular de la cobalamina, asociado a acidemia metilmalónica y homocistinuria. Su presentación clínica tardía es heterogénea y puede llevar a un retraso en el diagnóstico. Caso clínico: presentamos el caso de un varón de 45 años con 20 años de evolución de enfermedad renal crónica y paraparesia espástica de reciente diagnóstico, ambos de origen desconocido. Los estudios metabólicos revelaron niveles elevados de homocisteína y ácido metilmalónico en sangre y orina. El estudio genético confirmó el déficit de cobalamina C. Se inició tratamiento con hidroxocobalamina, betaína, carnitina y ácido fólico. El paciente pudo recibir un trasplante renal. Discusión: el establecimiento de un diagnóstico precoz y un tratamiento adecuado mejora la evolución clínica de los pacientes con déficit de Cbl C. La determinación de homocisteína, ácidos orgánicos y otros aminoácidos debe incluirse en el diagnóstico diferencial de los pacientes con síntomas nefrológico-neurológicos sin una etiología clara.

Acorrelation study between histological results and thyroid ultrasound findings. The TI-RADS classification. / Estudio de correlación de los resultados histológicos con los hallazgos ecográficos en nódulos tiroideos. Clasificación TI-RADS.

INTRODUCTION: There are several classifications based on thyroid ultrasound for selecting suspected malignant thyroid nodules. The Thyroid Imaging Reporting and Data System (TI-RADS) classification proposed by Horvath in 2009 includes 6 categories. OBJETIVES: To assess the sensitivity of the TI-RADS classification for diagnosing thyroid nodules. METHODS: A retrospective study of all patients who underwent thyroidectomy at our hospital (n=263) from September 2013 to December 2015. After thyroidectomy, histological results were correlated to the ultrasound findings reported. RESULTS: Of the 263 study patients, 75 (28.5%) were diagnosed with thyroid cancer and 188 (71.5%) with benign disease. Correlation of histological results with preoperative ultrasound reports showed an initial sensitivity of 65%. After excluding 15 patients diagnosed with occult microcarcinoma, sensitivity increased to 81.6%. The ultrasound images from 11 false negatives cases were then reassessed by a radiologist who knew histological diagnosis and reclassified 10 of them as TI-RADS≥4. This procedure could have increased sensitivity up to 98.3%. CONCLUSIONS: Although the sensitivity initially found in our study using the TI-RADS scale was relatively low, the value markedly improved when patients with occult microcarcinoma were excluded. Thus, use of the TI-RADS scale would allow for an adequate selection of patients amenable to fine needle aspiration of the nodule.

Effectiveness and tolerability of liraglutide in patients with type 2 diabetes mellitus and obesity after bariatric surgery.

BACKGROUND: Current guidelines do not offer detailed recommendations on antidiabetic drug therapy in type 2 diabetes (T2D) after bariatric surgery (BS), and reported experience is scarce. OBJECTIVES: To evaluate the effectiveness and tolerability of liraglutide at 2 years in patients with morbid obesity after undergoing BS and subsequent relapse, persistence, or new diagnosis of T2D, comparing the results with a cohort of nonsurgical diabetic patients also treated with liraglutide. SETTING: Obesity clinic at a University Hospital. METHODS: We conducted a retrospective study of 2 cohorts of patients (with and without previous BS) with T2D and obesity who had started treatment with liraglutide at least 2 years before their inclusion in the study. The main outcome measures were the differences in glycated hemoglobin (A1C) and weight at 104 weeks between both groups. RESULTS: A total of 164 patients were included, 15 with previous BS and 149 without BS. Mean baseline parameters were A1C 6.6% and body mass index 40.3 kg/m2 for the BS group, and A1C 7.5% and body mass index 39.7 kg/m2 for the non-BS group. At 2 years, A1C and weight were significantly decreased in both groups (BS group: ΔA1C -0.39%, Δweight -3.4 kg; non-BS group: ΔA1C -0.67%, Δweight -3.8 kg; all results P<.05), with no significant differences in A1C and weight reduction between both groups. There was a significant lower frequency of withdrawals due to all causes and a nonsignificant lower rate of vomiting and hypoglycemia in patients with BS. CONCLUSIONS: Liraglutide achieved a significant reduction in weight and A1C at 2 years in patients with T2D previously treated with BS, showing good gastrointestinal tolerance.