ASO Visual Abstract: Repeat Cytoreductive Surgery with Hyperthermic Intraperitoneal Chemotherapy for Cancers with Peritoneal Metastasis—A 30-year Institutional Experience

Annals of Surgical Oncology -     

Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes

OBJECTIVE: HNF-1alpha gene mutations (MODY3) present with marked hyperglycemia in lean young adults and may, therefore, be mistaken for type 1 diabetes, with implications for individual treatment and risk of diabetes in other family members. We examined the prevalence of HNF-1alpha mutations in families with three generations of diabetes identified in a population-based study of childhood diabetes, representing a subpopulation in which misclassification was likely. RESEARCH DESIGN AND METHODS: In a study population of 1,470 families, 36 families (2.4%) with three affected generations were identified. In the 18 families in whom DNA samples were available, islet autoantibody testing, HLA class II genotyping, and HNF-1alpha sequencing were performed. RESULTS: At least one islet autoantibody was found in 13 of 14 probands, and diabetes-associated HLA class II haplotypes were found in 17 of 18. One proband, who had no islet autoantibodies and was homozygous for the protective HLA haplotype DRB1*02-DQB1*0602, had a novel HNF-1alpha heterozygous nonsense mutation (R54X). This mutation cosegregated with diabetes in the family. The proband, his brother, mother, and maternal grandmother were diagnosed with type 1 diabetes aged 14-18 years and treated with insulin (0.39-0.74 units/kg) from diagnosis. The mother has since been successfully transferred to sulfonylurea treatment. CONCLUSIONS: Family history alone is of limited value in identification of individuals with HNF-1alpha mutations, and we propose a stepwise approach that restricts sequencing of the HNF-1alpha gene to those with a family history of diabetes who also test negative for islet autoantibodies.     

Use of drug therapy in children with attention deficit hyperactivity disorder (ADHD): maternal views and experiences

Aims and objectives. The aim of this paper is to explore maternal views and experiences of stimulant pharmacotherapy in children with attention deficit hyperactivity disorder (ADHD). Background. The very nature of ADHD means that it exists in a climate of scepticism and doubt. However, parents must make decisions about how to treat their children affected by ADHD. Of the treatments available, the use of stimulant therapy is the most controversial. Design. Qualitative. Method. Snowball sampling was used to recruit mothers (n = 11) of children with ADHD and a narrative‐based qualitative methodology was used. Results. Decisions around the use of stimulant medication for children with ADHD were difficult for these mothers. Detailed findings are presented under the themes of: Ambivalence and confusion: everybody would be down on me like a ton of bricks; Influence of the media: so much bad publicity; Deciding against medication: you’re changing their whole personality; and, Deciding for medication: he’s just been wonderful. Conclusions. While these mothers revealed that they were discriminating in selecting information to guide their decision‐making, many of their friends and family were influenced solely by media reports. Mothers experienced misgivings from family and friends who were sceptical about the need for medication and the implications and ethics of administering stimulant medication to children. Relevance to clinical practice. Nurses and healthcare professionals have an important role in providing accurate and current information for parents and families and should be aware of the pressures parents are under when making decisions about treatments for their children with ADHD.     

Subacute concussion-related symptoms in youth

Most athletes who experience a sports-related concussion recover from the acute effects within a few weeks. However, some children and adolescents with concussion experience symptoms for many weeks, or even months after the injury. Subacute and chronic symptoms related to concussion are particularly concerning in children, because cognitive deficits, headache or neck pain, sleep dysfunction, and emotional dysregulation can affect school performance and social function at a critical period of development and maturation. This article reviews the epidemiology of subacute symptoms after pediatric concussion and the current recommendations for the assessment and management of these symptoms in children and adolescents.