Patients' preferences for subcutaneous trastuzumab versus conventional intravenous infusion for the adjuvant treatment of HER2-positive early breast cancer: final analysis of 488 patients in the international, randomized, two-cohort PrefHer study

PrefHer revealed compelling and consistent patient preference for subcutaneous (s.c.) trastuzumab, regardless of delivery by single-use injection device or hand-held syringe. s.c. trastuzumab was well-tolerated and safety data, including immunogenicity, were consistent with previous reports. No new safety signals were identified compared with the known intravenous trastuzumab profile in early breast cance

Design and baseline characteristics of the finerenone in reducing cardiovascular mortality and morbidity in diabetic kidney disease trial

Background: Among people with diabetes, those with kidney disease have exceptionally high rates of cardiovascular (CV) morbidity and mortality and progression of their underlying kidney disease. Finerenone is a novel, nonsteroidal, selective mineralocorticoid receptor antagonist that has shown to reduce albuminuria in type 2 diabetes (T2D) patients with chronic kidney disease (CKD) while revealing only a low risk of hyperkalemia. However, the effect of finerenone on CV and renal outcomes has not yet been investigated in long-term trials. Patients and Methods: The Finerenone in Reducing CV Mortality and Morbidity in Diabetic Kidney Disease (FIGARO-DKD) trial aims to assess the efficacy and safety of finerenone compared to placebo at reducing clinically important CV and renal outcomes in T2D patients with CKD. FIGARO-DKD is a randomized, double-blind, placebo-controlled, parallel-group, event-driven trial running in 47 countries with an expected duration of approximately 6 years. FIGARO-DKD randomized 7,437 patients with an estimated glomerular filtration rate >= 25 mL/min/1.73 m(2) and albuminuria (urinary albumin-to-creatinine ratio >= 30 to <= 5,000 mg/g). The study has at least 90% power to detect a 20% reduction in the risk of the primary outcome (overall two-sided significance level alpha = 0.05), the composite of time to first occurrence of CV death, nonfatal myocardial infarction, nonfatal stroke, or hospitalization for heart failure. Conclusions: FIGARO-DKD will determine whether an optimally treated cohort of T2D patients with CKD at high risk of CV and renal events will experience cardiorenal benefits with the addition of finerenone to their treatment regimen. Trial Registration: EudraCT number: 2015-000950-39; ClinicalTrials.gov identifier: NCT02545049

Three Patients With Lafora Disease: Different Clinical Presentations and a Novel Mutation

WOS: 000353584100016PubMed ID: 25015673Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration. Diagnosis is made by polyglucosan inclusion bodies (Lafora bodies) shown in skin biopsy. Responsible mutations of Lafora disease involves either the EPM2A or NHLRC1 (EPM2B) gene. Mutations in the NHLRC1 gene are described as having a more benign clinical course and a later age of death compared with EPM2A mutations. We report 2 genetic mutations and clinical courses of Lafora disease in 3 adolescents with homozygote NHLRC1 mutation and novel homozygous EPM2A mutation

Molybdenum cofactor deficiency: Clinical features in a Turkish patient

The molybdenum cofactor is. essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischaemic encephalopathy. Although milder cases with later onset and less severe symptoms have been identified, the classic presentation involves neonatal seizures, progressive encephalopathy and death at an early age. There is currently no effective therapy, and the prognosis is poor. The disorder should be considered in all cases of intractable seizures in the newborn period and infants with clinical and radiological features of ischaemic encephalopathy, especially when no obvious lesion is detected. Blood uric acid measurement should be included in the battery of tests to be performed in all neonates' refractory seizures. We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c. I 30C > T in cDNA of the MOCS2 gene from the infant. (C) 2006 Elsevier B.V. All rights reserved

Prevalence and risk factors of epilepsy among school children in Kayseri City Center, an urban area in Central Anatolia, Turkey

AbstractPurposeTo investigate the prevalence of epilepsy in schoolchildren aged 7–17 in the province of Kayseri together with the accompanying risk factors.MethodsTen thousand individuals selected using the “stratified cluster sampling method” from a total population of 259,428 students within the borders of Kayseri city center constituted the study sample. A questionnaire was prepared in line with the epidemiological studies protocol recommended by the International Epilepsy Union Epidemiology and Prognosis Committee in 1993. Data were analyzed on IBM SPSS Statistics 20. Significance was set at p<0.05.ResultsOf the 15,000 questionnaires distributed, 72% (n=10,742) were returned fully completed. Eighty-three students had been or were still being monitored with a diagnosis of epilepsy. The raw prevalence of epilepsy was 6/1000 in females, 9/1000 in males and 8/1000 in both groups together. Prevalence of active epilepsy was 4/1000 in females, 7/1000 in males and 6/1000 in both groups together. Premature birth increased the risk of epilepsy 2.6 times, and average and poor family income levels increased the risk of epilepsy 3.3 and 1.6 times, respectively. A history of febrile convulsion increased the risk of epilepsy 15.1 times.ConclusionThe prevalence of epilepsy in the 7–17 age group in Kayseri is closer to that in developed rather than developing countries. We conclude that the risk factors for epilepsy, and particularly febrile convulsion, and the true prevalence rates need to be determined through studies involving wide socioeconomic strata