"Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series".

INTRODUCTION: Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language development between 2 and 4 years of age. This article describes the presentation of CLN2 disease in a cohort of Colombian patients, as well as the impact of treatment on the course and progression of the disease. METHODS: Case series report of 8 patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis treated with cerliponase alfa who remained on clinical and paraclinical follow-up for up to 24 months before and after treatment. RESULTS: An atypical phenotype, associated with initial symptoms and late diagnosis, was present in 5/8 patients. The most frequent symptoms were seizures and developmental delay, with age of onset at 24 months (classical phenotype) and 48 months (atypical phenotype). A novel mutation (c.1438G > A) was found in two siblings. All of the patients received cerliponase alfa, and there were no serious adverse events. No decline in the clinical status greater than 2 points on Hamburg, Weill Cornell and CNL2 clinical assessment scale was observed during follow-up after treatment initiation. CONCLUSION: This is the first case series reported for neuronal ceroid lipofuscinosis patients in Colombia. In contrast with other reports, the majority of cases reported here displayed an atypical phenotype. Our study highlights the importance of early diagnosis and timely initiation of therapy, which is a feasible therapy, well tolerated by patients and accepted by caregivers in this country, generating a positive impact in the quality of life of CLN2 patients and on disease outcome.

The controlling nutritional status score: A promising tool for nutritional screening and predicting severity in ulcerative colitis patients. / La escala control nutricional (CONUT): una herramienta prometedora para el cribado nutricional y como predictor de severidad en la colitis ulcerosa crónica idiopática.

INTRODUCTION AND AIMS: The controlling nutritional status (CONUT) score has previously been shown to be useful for nutritional assessment and the prediction of several inflammatory and neoplastic diseases. The aim of the present study was to evaluate the potential use of the CONUT score as a method for nutritional screening and predicting severity in ulcerative colitis (UC). MATERIALS AND METHODS: The study was conducted on 60 patients diagnosed with UC. Demographic, clinical, and biochemical patient characteristics were collected from their clinical records, and disease severity was assessed using the Truelove and Witts scale (TWS). The risks for malnutrition were evaluated through the nutritional risk index and the CONUT score. RESULTS: More than 90% of the UC patients presented with malnutrition risk, according to the scores analyzed. Patients with a high (>6points) CONUT score presented with moderate-to-severe activity on the TWS. A higher CONUT score was also associated with an increase in C-reactive protein (CRP) (P=.002) and erythrocyte sedimentation rate (ESR) (P=.009). The data analysis was performed utilizing the SPSS version 19 program. CONCLUSIONS: The CONUT score could be a promising tool for evaluating nutritional status in UC patients and predicting UC severity.