Hyperuricemia, A Common Metabolic Condition with an Increased Cardiovascular Risk

In recent years, the prevalence of gout has increased, especially in Western societies, with the clinical profile of this disease becoming more and more complex, due to the modern lifestyle, and the usual multiple comorbidity, which it presents.

Influence of Alzheimer’s disease on the relationship between nutritional status and risk of fall

Although malnutrition and risk of falls in the elderly have increased in recent years, uncertainties exist as to whether these conditions are associated after controlling for sociodemographic variables, body composition, metabolic condition, and Alzheimer’s disease (AD). This study aimed to analyze the association between nutritional status and risk of fall in the elderly population. Participants were matched by gender and age, after they had been grouped on the basis of diagnosis of AD. The risk of falls, nutritional status, and mental status were assessed using the Downton Fall Risk Score (FRS), Mini Nutritional Assessment (MNA), and Mini Mental State Evaluation (MMSE), respectively. Logistic regression models adjusted for the main confounders were used in the analyses. Among the 68 elderly individuals studied, participants who were malnourished or at risk of malnutrition were more likely to fall (odds ratio = 8.29; 95% confidence interval = 1.49-46.04) than those with normal nutritional status, regardless of gender, age, education, body composition, and metabolic condition. This association did not remain significant after adjustment for AD, a potential confounder in this association. Malnutrition or its risk was independently associated with high risk of fall; thus, malnutrition should be considered in the prevention of falls among the elderly population.

Hyperinsulinemia: A Metabolic Disease, the Quality of Life of its Patients and Treatment

Hyperinsulinemia is a metabolic condition that occurs mainly in people with increased body weight, which implies an increased body mass index (BMI) and the consequences it can have in long term. Many people suffer from hyperinsulinemia but do not know it, as they ignore their symptoms which are polycystic ovaries, hair loss, difficulty having children, sparse menstruation, etc. Hyperinsulinemia is a metabolic condition due to the fact that the body constantly produces an increased to excessive amount of insulin regardless of the amount of glucose present in the blood. Hyperinsulinemia should not be confused with and directly linked to diabetes, as type 2 diabetes may occur after several years of untreated hyperinsulinemia due to the natural fatigue of the pancreas due to its excessive and uninterrupted production of insulin. Usually people who show symptoms of hyperinsulinemia are predisposed as it can be diagnosed in newborns, it has arisen from other metabolic diseases such as isletoblastoma, liver disease, etc. It can also result from the administration of drugs such as contraceptives where after their cessation the body has returned to normal or unfortunately hyperinsulinemia may remain.

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience

Background: The published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III, VI, and IX—from childhood to adulthood, managed by one referral center. Patients and methods: Thirty adult patients with hepatic GSD were included in the study. A retrospective chart review of patients’ medical records has been performed. Results: During the long-term follow-up, the most frequent complications observed in a group of 14 GSD I patients were nephropathy with blood hypertension (10/14), hyperuricemia (8/14), and development of hepatocellular adenomas (HCA; 5/14). All individuals but four presented with normal height. Two patients with GSD Ib suffered from inflammatory bowel disease (IBD). Nine (64%) GSD I patients were in balanced metabolic condition at the age of 18. Regarding GSD III/VI/IX, the most frequent complication was short stature observed in 5 out of 16 patients. All patients but one with GSD VI were in balanced metabolic condition at the age of 18. Conclusion: The long-term outcomes of patients with GSD depend mainly on proper (adjusted to each type of GSD) dietary management and patient compliance. However, in GSD type I, even proper management does not eliminate all long-term complications in adulthood.

Improvement in Oral Health and Compliance in a Child with Congenital Hypothyroidism. Case Report

Congenital hypothyroidism is a metabolic disorder that requires special health care interventions. It has influence in overall growth and oral conditions in pediatric patients, and also can affect child cooperation during dental treatment because this metabolic condition is the most common preventable cause of mental retardation. The aim of this paper is to report the dental treatment of a child with congenital hypothyroidism who is four years and five months old, with many facial and oral characteristics of the metabolic condition, including severe early childhood caries and malocclusion. At first, it was observed a lack of cooperation of the patient with speech and learning impairment, but with the help of the Pedagogy team at the Pediatric Dental Clinic Playroom, he developed confidence and diminished anxiety every appointment. We present the follow-up during 15 months, where we could observe favorable outcomes in oral health and compliance of the child.

Unusual first presentation of a metabolic disorder

An 8-month-old boy presented to hospital with a fever, irritability and ‘back arching’. On examination, he demonstrated profound opisthotonic posturing and had tonsillitis. He had a full septic screen and was treated with broad spectrum antibiotics. Blood tests showed a transaminitis, raised alpha fetoprotein and deranged clotting. The clotting abnormalities and raised alpha fetoprotein persisted post discharge and an abdominal ultrasound showed steatosis, splenomegaly and bilateral increased renal cortical reflectivity. A full metabolic screen revealed type 1 tyrosinaemia. The opisthotonic posturing, a major part of this child’s presentation, has not been reported as a presenting feature of tyrosinaemia. It was part of a ‘neurological crisis’ caused by tyrosinaemia and exacerbated by the intercurrent infection. These are known to occur in tyrosinaemia but not commonly as the first presentation. This represents an unusual presentation of a metabolic condition which, without intervention, can lead to severe hepatic, renal and neurodevelopmental complications.