Intellectual Disability Related to De Novo Germline Loss of the Distal End of the P-Arm of Chromosome 17: A Case Report

Hypothesis/Purpose: In this report we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of 17p13.3, and the deletion was not present in either parent. This deletion has not previously been characterized, but mutations on the p-arm of chromosome 17 are responsible for Miller-Dieker Syndrome and Isolated Lissencephaly Sequence, both of which share symptoms in common with the patient. Methods: Peripheral mononuclear cells (PBMCs) were used for karyotyping and competitive genetic hybridization (CHG). Bioinformatic analysis was carried out using the Genome Data Viewer (ncbi.nlm.nih.gov/genome/gdv). Results: Karyotype was found to be normal, but CGH revealed a deletion of the tail end of the p-arm of chromosome 17, 17p13.3. At least 134 genes are present in this genomic location, and 35 of them are uncharacterized. Both Miller-Dieker Syndrome (MDS) and Isolated Lissencephaly Sequence (ILS) are characterized by a smooth cerebral cortex and intellectual disability, but the patient’s symptoms more closely mirror MDS because muscle tone was normal. The patient was significantly shorter than peers, but growth hormone therapy over the course of several years allowed the patient to reach a normal height, albeit shorter than her siblings and parents. The list of genes deleted will be investigated to determine if a single gene is likely responsible for the phenotype. Conclusions: Here we present a patient with intellectual disability and a previously uncharacterized deletion on chromosome 17. Similar, though not identical conditions have been previously reported, but not well characterized indicating that the present patient could possibly have one of these conditions. Further directions include investigation of the deleted genes to determine a probable cause for the symptoms exhibited

Exploring Glucose Dysregulation in Migraine: Insights from Continuous Glucose Monitoring

Despite being associated with hypoglycemia for nearly a century, a definitive relationship between migraines and glucose dysregulation remains elusive. Accumulating evidence suggests that migraines are in part due to a metabolic mismatch between cerebral demand and available energy. Research analyzing plasma glucose levels and migraine activity may further elucidate this interface between metabolic dysregulation and migraine pathophysiology and may potentially open avenues for therapeutic interventions targeting holistic metabolism for migraine management

Investigating the Interplay between Glucose Regulation, Neural Activity, and Motivation: A Novel Approach Utilizing Vibration Stimulation

This research explores the intricate relationship between glucose regulation, neural activity, and motivation in key brain regions, including the hypothalamus, basal ganglia, ventral tegmental area (VTA), and nucleus accumbens (NA). We aim to unravel the potential relationship of these factors on dopamine (DA) release and the broader implications for mental health, glucose regulation, well-being, and overall health. Our innovative approach involves using a chair that causes heterodyned whole-body vibration designed to stimulate DA release from the VTA and NA, areas associated with motivation and rewards

Understanding Why Knee Implants Fail

Our multi-disciplinary team of surgeons and engineers will present the mechanisms of failure of knee replacements. We will correlate clinical and imaging data with retrieval analyses in order to identify risk factors

Doctoral students’ use of examples in evaluating and proving conjectures

The final publication is available at: www.springerlink.comThis paper discusses variation in reasoning strategies among expert mathematicians, with a particular focus on the degree to which they use examples to reason about general conjectures. We first discuss literature on the use of examples in understanding and reasoning about abstract mathematics, relating this to a conceptualisation of syntactic and semantic reasoning strategies relative to a representation system of proof. We then use this conceptualisation as a basis for contrasting the behaviour of two successful mathematics research students whilst they evaluated and proved number theory conjectures. We observe that the students exhibited strikingly different degrees of example use, and argue that previously observed individual differences in reasoning strategies may exist at the expert level. We conclude by discussing implications for pedagogy and for future research

Ευρετικές προσεγγίσεις του μοναδιάστατου προβλήματος πακετοποίησης

Article 59.1, of the International Code of Nomenclature for Algae, Fungi, and Plants (ICN; Melbourne Code), which addresses the nomenclature of pleomorphic fungi, became effective from 30 July 2011. Since that date, each fungal species can have one nomenclaturally correct name in a particular classification. All other previously used names for this species will be considered as synonyms. The older generic epithet takes priority over the younger name. Any widely used younger names proposed for use, must comply with Art. 57.2 and their usage should be approved by the Nomenclature Committee for Fungi (NCF). In this paper, we list all genera currently accepted by us in Dothideomycetes (belonging to 23 orders and 110 families), including pleomorphic and non-pleomorphic genera. In the case of pleomorphic genera, we follow the rulings of the current ICN and propose single generic names for future usage. The taxonomic placements of 1261 genera are listed as an outline. Protected names and suppressed names for 34 pleomorphic genera are listed separately. Notes and justifications are provided for possible proposed names after the list of genera. Notes are also provided on recent advances in our understanding of asexual and sexual morph linkages in Dothideomycetes. A phylogenetic tree based on four gene analyses supported 23 orders and 75 families, while 35 families still lack molecular data

Data from: Reducing early infant mortality in India: results of a prospective cohort of pregnant women utilizing emergency medical services

Objectives: To describe the demographic characteristics and clinical outcomes of neonates born within 7 days of public ambulance transport to hospitals across five states in India. Design: Prospective observational study. Setting: Five Indian states using a centralised EMS agency that transported 3.1 million pregnant women in 2014. Participants: Over 6 weeks in 2014, this study followed a convenience sample of 1,431 neonates born to women utilizing a public-private ambulance service for a ‘pregnancy related’ problem. Initial calls were deemed ‘pregnancy related’ if categorised by EMS dispatchers as ‘pregnancy’, ‘childbirth’, ‘miscarriage’ or ‘labour pains’. Interfacility transfers, patients absent on ambulance arrival, refusal of care, and neonates born to women beyond 7 days of using the service were excluded. Main outcome measures: Death at 2, 7 and 42 days after delivery. Results: Among 1,684 women, 1,411 gave birth to 1,431 newborns within 7 days of initial ambulance transport. Median maternal age at delivery was 23 years (IQR: 21-25). Most mothers were from rural/tribal areas (92.5%) and lower social (79.9%) and economic status (69.9%). Follow-up rates at 2, 7 and 42 days were 99.8%, 99.3% and 94.1%, respectively. Cumulative mortality rates at 2, 7 and 42-days follow-up were 41, 53 and 62 per 1000 births, respectively. The perinatal mortality rate (PMR) was 53 per 1000. Preterm birth [OR: 2.89, 95% CI: 1.67-5.00], twin deliveries (OR: 2.80, 95% CI: 1.10-7.15), and cesarean section (2.21, 95% CI: 1.15-4.23) were the strongest predictors of mortality. Conclusions: The perinatal mortality rate associated with this cohort of patients with high-acuity conditions of pregnancy was nearly two times the most recent rate for India as a whole (28 per 1000 births). EMS data has the potential to provide more robust estimates of PMR, reduce inequities in timely access to healthcare, and increase facility-based care through service of marginalized populations