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The electrocardiographic findings in patients with verified familial amyloidotic polyneuropathy, from a defined population in northern Sweden with an extremely high prevalence of this disease, were studied. The first electrocardiogram registered, after the diagnosis has been established, was reviewed in 105 patients. In 61 patients, there was at least 1 additional electrocardiogram registered more than 3 years after the first, and the latest of these were also reviewed. Mean follow-up time was 8.2 years. The proportion of patients with an abnormal or suspected abnormal electrocardiogram was 54% at the initial examination and 80% at follow-up. The most common findings at onset of symptoms were atrioventricular and intraventricular conduction abnormalities (33%), S-T depression (20%), flattened or inverted T waves (22%) and prolongation of the Q-T interval (17%). The prevalence of conduction and S-T-T abnormalities increased further during the follow-up period. The occurrence of all electrocardiographic abnormalities was age-related, and there were few abnormalities in patients younger than 55 years. The cardiac conduction disturbances were progressive, and 19

Purpose Esophageal atresia (EA) is a congenital anomaly of the foregut. Although the survival has improved over the years there is a significant gastrointestinal morbidity affecting physical function and health-related quality of life. The aims of the study were to identify and evaluate predictors of histopathological esophagitis in infants and adolescents with EA. Methods Single centre, cross-sectional study including one and 15-year-old patients operated for EA that participated in the national follow-up programme between 2012 and 2020 according to a pre-established protocol including upper endoscopy with oesophageal biopsies and 24h-pH-test. Data was collected from patients’ medical records and pH-analysis software. Regression models were used to identify predictors of histopathological oesophagitis. Possible predictors were abnormal reflux index, endoscopic esophagitis, hiatal hernia, symptoms of gastroesophageal reflux (GER) and age. Results 65 patients were included, 47 children and 18 adolescents. All children were treated with PPI during their first year of life. Symptoms of GER were reported by 13 (31.7%) of the infant’s caregivers, 34 of the children (72.3%) had abnormal reflux index and 32 (68.1%) had histopathological esophagitis. The corresponding numbers for adolescents were 8 (50%), 15 (83.3%) and 10 (55.6%). We found no significant associations between histopathological esophagitis and endoscopic esophagitis, symptoms of GER, hiatus hernia or age group. Abnormal reflux index was an independent predictor of histopathological esophagitis. Seven patients with normal reflux index had histopathological esophagitis, all grade I. Conclusions We found a high prevalence of histopathological esophagitis despite PPI treatment in accordance with recommendations. No significant difference between the two age groups was seen. Abnormal reflux index was an independent predictor of histopathological esophagitis. However, we cannot recommend the use of pH-metry as a substitute for esophageal biopsies; future studies are needed to elucidate if esophageal biopsies might be postponed in infants with normal reflux index.

Spontaneous and radiation-induced chromosome damage in cultured lymphocytes was examined in a pilot study of 11 patients with idiopathic hemochromatosis and matched controls. Increased frequencies of chromosome breaks were found in the patients, both spontaneously and after exposure to ionizing radiation, but the differences between patients and controls were not statistically significant (p > 0.05) when individual data were analyzed. When pooled (group) data for patients and controls were compared, significant increases in spontaneous and radiation-induced chromosome breaks were found among the patients. The results suggest that iron overload may lead to chromosome damage in idiopathic hemochromatosis.

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