Genetic Evaluation of the Parents Following Demise of the Index Case: Report of a Family with Fucosidosis.

It is common in obstetric practice to encounter couples who seek prenatal genetic counseling and testing in view of history of known or suspected genetic disorders in the previous offspring or in other family members. Recent advances in genetic testing techniques, especially the availability of the next-generation sequencing (NGS) technology, have greatly facilitated genetic evaluation of the proband and/or the consultand couple and enabled provision of accurate genetic counseling and prenatal genetic testing in such clinical scenarios. However, even in this era of NGS, comprehensive clinical history taking and detailed phenotype characterization through clinical examination and thorough perusal of available medical records, are very important and essential for accurate diagnosis, as reiterated by this report of a 30-year-old third gravida, who was referred for prenatal genetic counseling and testing, in view of history of death of the first offspring due to a suspected neurogenetic disorder.

Hydrophilized Ultrafiltration Membranes Synthesized from Acrylic Acid Grafted Polyethersulfone for Downstream Processing of Therapeutic Insulin and Cobalamin.

The present study focuses on synthesis of novel high-performance acrylic acid (AA) grafted polyethersulfone (PES) ultrafiltration (UF) membranes for purification of small therapeutic biomolecules such as urea, insulin, and cobalamin. The membranes were indigenously synthesized by adding polyethylene glycol (PEG) of 6 kDa M.Wt.

Ambulatory electroencephalogram in children: A prospective clinical audit of 100 cases.

Ambulatory electroencephalogram has been used for differentiating epileptic from nonepileptic events, recording seizure frequency and classification of seizure type. We studied 100 consecutive children prospectively aged 11 days to 16 years that were referred for an ambulatory electroencephalogram to a regional children's hospital. Ambulatory electroencephalogram was clinically useful in contributing to a clinical diagnosis in 71% of children who were referred with a range of clinical questions.

Clinical reasoning and investigations for resective surgery for medically refractory epilepsies in children.

The article presents results of a UK survey of pediatric neurologists' views regarding resective surgery for medically refractory epilepsies in children. In contrast to surveys with adult neurologists, the findings indicate that delays to surgery in the pediatric field are not likely to be due to clinicians' views. There is, however, variability in clinicians' opinions as to what constitutes medically refractory epilepsy, variability in the factors reported as necessary for surgery eligibility, and uncertainty as to how these concepts should be defined.

Parental and physician beliefs regarding the provision and content of written sudden unexpected death in epilepsy (SUDEP) information.

Purpose: The 2007 UK National Institute for Health and Clinical Excellence (NICE) guidelines for epilepsy recommend disclosing the risk of sudden unexpected death in epilepsy (SUDEP) to patients. This recommendation is not undertaken routinely, and considerable variation in individual physician practice exists. Literature indicates wariness of causing distress and anxiety, particularly to children/young people and their families through disclosing a nonpreventable risk.