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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. [ABSTRACT FROM AUTHOR]

Introduction: Background: the underlying cause of the deficiency of ornithine carbamoyltransferase (OTCD) is a gene mutation on the X chromosome. In females, the phenotype is highly variable, ranging from asymptomatic to neurologic compromise secondary to hyperammonemia and it can be prompted by numerous triggers, including pregnancy. Objective: the objective of this article is to report a case of two pregnancies of an OTCD-carrier, and to review the literature describing OTCD and pregnancy, parturition and postpartum. Methods: an extensive search in PubMed in December 2021 was conducted using different search terms. After screening all abstracts, 23 papers that corresponded to our inclusion criteria were identified. Results: the article focuses on the management of OTCD during pregnancy, parturition, and the postpartum period in terms of clinical presentation, ammonia levels and treatment. Conclusions: females with OTCD can certainly plan a pregnancy, but they need a careful management during delivery and particularly during the immediate postpartum period. If possible, a multidisciplinary team of physicians, dietitians, obstetrician-gynecologist, neonatologists, pharmacists, etc. with expertise in this field should participate in the care of women with OTCD and their children during this period and in their adult life.

Introduction: Aim: the objective of this study was to describe the results of the implementation of a home parenteral nutrition (HPN) care programme (Nutrihome©) in a cohort of patients treated at a tertiary hospital. Methods: retrospective study of the patients included in Nutrihome© at Hospital General Universitario Gregorio Marañón, Madrid, Spain. Nutrihome consists of different modules including pre-discharge nursing hospital visits and nursing home visits, deliveries of the infusion pump, consumables and parenteral nutrition bags, patient training, weekly scheduled nursing home visits, scheduled nursing phone calls, stock control phone calls and 24-hour on-call line manned by the nurses. Results: the study included 8 (75 % women) and 10 (70 % women) patients in the Nutrihome© pilot and Nutrihome© programme, respectively. A total 37 adverse events were reported during Nutrihome© pilot, 26 of which were technical, 9 clinical, 1 was catheter-related and 1 other event. Nutrihome© programme registered a total of 107 adverse events reported, 57 of which were technical, 21 clinical, 16 were catheter-related and 13 were other events. A total of 99 % of these events were solved by Nutrihome© via phone calls or home visits. Conclusions: Nutrihome© programme has been extremely useful during this pandemic, facilitaing both the start of HPN and training at the patient home without the need for hospitalisation. Additionally, the adverse events reported and solved by Nutrihome© not only reduced the physicians' burden during those tough times and the patients´ stress of being hospitalised during a pandemic, but supported the entire healthcare system.

Background and Objective: Differentiated thyroid carcinoma staging is increasingly important due to the current trends to a less intensive therapy in low-risk patients. The TNM system is most widely used, but other systems based on follow-up of several patient cohorts have been developed. When these systems have been applied to other populations, results have been discordant. Our study evaluates the suitability of several differentiated thyroid carcinoma staging systems in a Spanish population., Material and Method: 729 patients with differentiated thyroid carcinoma and staging data available were enrolled. Mean follow-up time was 10.8 years. The TNM, EORTC, AMES, Clinical class, MACIS, Ohio, NTCTCS, and Spanish systems were applied to all histological types. The Kaplan-Meier survival curves for each system were analyzed, and compared using the proportion of explained variation (PEV)., Results: The demographic and clinical characteristics of our population were similar to those of other Spanish and international cohorts reported. The best systems were NTCTCS, with 74.7% PEV, and TNM (68.3%), followed by the Ohio, MACIS, EORTC, and AMES systems with minimal differences between them, while the least adequate were the Spanish (55.2%) and Clinical class (47.1%) systems., Conclusion: The NTCTCS staging system was found to be better than TNM in our population but, because of its simplicity and greater dissemination, the TNM appears to be recommended for staging of patients with differentiated thyroid carcinoma., (Copyright © 2014 SEEN. Published by Elsevier España, S.L.U. All rights reserved.)