Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption?

Background: The worldwide increase in pediatric overweight and obesity, in parallel with the global increase in the consumption of sucrose and fructose, is associated with non-alcoholic fatty liver disease (NAFLD). Elevated branched-chain amino acids (BCAAs) are a metabolic feature related to obesity and an early risk factor for insulin resistance and NAFLD. However, few studies have assessed metabolic risk factors and nutritional status in maple syrup urine disease (MSUD) patients under restricted BCAA and high carbohydrate diets. Methods and results: Herein, we present a pilot report of a 17-year-old boy with classic MSUD with poor diet compliance and high fructose consumption, mainly during early adolescence. At that time, he was overweight and developed features of metabolic syndrome, including persistently elevated liver enzymes and hepatic steatosis. He underwent liver transplantation at the age of 13 years to prevent the risk of progressive cognitive impairment. Two months later, NAFLD relapsed in the graft, despite a better BCAA balance and weight loss. Nevertheless, 6 months after dietary restriction of fructose consumption, NAFLD had sustainably improved. Conclusion: Childhood overweight and fructose overconsumption are wellestablished driving forces in the development of pediatric NAFLD. However, their role in the early onset and progression of NAFLD in the allograft remains to be established. Furthermore, it is not known whether the dysmetabolic state associated with elevated BCAAs may be contributory. Further studies are required with a cohort of MSUD subjects to validate our findings and to ascertain the possible interaction between a BCAA imbalance and dietary intake in the development of NAFLD.

Tissue iron quantification in chronic liver diseases using MRI shows a relationship between iron accumulation in liver, spleen, and bone marrow.

AIM: To investigate iron loading within the liver, pancreas, spleen, and bone marrow using magnetic resonance imaging (MRI) transverse relaxation rate (R2*), in patients with diffuse liver diseases; to evaluate the relationships between iron accumulation in these tissue compartments; and to assess the association between tissue iron overload and the pattern of hepatic cellular iron distribution (hepatocytes versus Kupffer cells). MATERIAL AND METHODS: Fifty-six patients with diffuse liver diseases had MRI-derived R2* values, using a multi-echo chemical-shift encoded MRI sequence, of the liver, pancreas, spleen, and vertebral bone marrow. All patients had liver biopsy samples scored for hepatic iron grading (0-4) and iron cellular distribution (within hepatocytes only or within both hepatocytes and Kupffer cells). RESULTS: Liver R2* increased with histological iron grade (RS=0.58, p<0.001) and correlated with spleen (RS=0.71, p<0.001) and bone marrow R2* (RS=0.66, p<0.001), but not with pancreatic R2* (RS=0.22, p=0.096). Splenic and bone marrow R2* values were also correlated (RS=0.72, p<0.001). Patients with iron inside Kupffer cells had the highest R2* in liver, spleen and bone marrow. CONCLUSIONS: Patients with chronic diffuse liver diseases have concomitant hepatic, splenic, and bone marrow iron loading. The highest hepatic iron scores and iron inside Kupffer cells were associated with the highest splenic and bone marrow deposits, suggesting systemic iron accumulation in the mononuclear phagocytic system.

A clinical-pathological and survival study of oral squamous cell carcinomas from a population of the North of Portugal.

OBJECTIVES: Our aim was to analyze the clinical, pathological, and outcome characteristics of oral squamous cell carcinomas (OSCC) from a population of the North of Portugal. MATERIAL AND METHODS: We conducted a descriptive study of 128 OSCC diagnosed between the years of 2000 and 2010 in the Centro Hospitalar do Porto. Through of the review of the clinical records we studied several clinical, pathological, and outcome variables. The overall survival (OS) and disease-free survival (DFS) were analyzed by Kaplan-Meier method and log-rank test. Cox regression method was used for multivariate analysis. RESULTS: Of 128 patients with OSCC, 83 (64.8%) were male and 45 (35.2%) were female, (mean age of 62.13±15.57 years). The most affected location was the tongue (n=52; 40.6%). The most common cause of reference was a non-healing ulcer (n=35; 28.9%) followed by oral pain (n=27; 22.3%). Sixty (60.6%) patients were tobacco consumers and 55 (57.3%) alcohol consumers. The cumulative 3-years OS rate was 58.6% and DFS was 55.4%. In multivariable analysis for OS, we found an adverse independent prognostic value for advanced tumour size (p<0.001) and for the presence of perineural permeation (p=0.012). For DFS, advanced stage tumours presented adverse independent prognostic value (p<0.001). CONCLUSION: OSCC occurred most frequently in males, in older patients, and in patients with tobacco and/or alcohol habits. TNM and tumour stage additionally to the perineural permeation were the most important prognostic factor for the survival of these patients, contributing to identify high-risk subgroups and to guide therapy.

[Aneurysmal bone cyst of the temporal bone in a 8 year sold girl: case report]. / Quiste óseo aneurismático temporal en una niña de 8 años: descripción de un caso.

Aneurysmal bone cyst (ABC) is a very rare, benign, non-neoplastic lesion that typically occurs in the early life, usually before the 3rd decade, it's exceptional in younger than 10 years. We report the diagnosis and treatment of an 8 years old girl with an ABC in the left temporal bone, a very unusual location. Although the histologic characteristics have been well defined, its pathogenesis remains obscure and not totally explained. Total excision nowadays is the treatment of choice.