Medicine and Health Sciences Commons^™

De Novo Frameshift Mutation In Asxl3 In A Patient With Global Developmental Delay, Microcephaly, And Craniofacial Anomalies., Darrell L. Dinwiddie, Sarah E. Soden, Carol J. Saunders, Neil A. Miller, Emily G. Farrow, Laurie D. Smith, Stephen F. Kingsmore

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical investigation. The recent advent and use of genomic medicine has resulted in a paradigm shift in the clinical molecular genetics of rare diseases and has provided insight into the causes of numerous rare genetic conditions. In particular, whole exome and genome sequencing of families has been particularly useful in discovering de novo germline mutations as the cause of both rare diseases and complex disorders.

CASE PRESENTATION: …

Erps Reveal The Temporal Dynamics Of Auditory Word Recognition In Specific Language Impairment., Jeffrey G Malins, Amy S Desroches, Erin K Robertson, Randy Lynn Newman, Lisa M D Archibald, Marc F Joanisse

Brain and Mind Institute Researchers' Publications

We used event-related potentials (ERPs) to compare auditory word recognition in children with specific language impairment (SLI group; N=14) to a group of typically developing children (TD group; N=14). Subjects were presented with pictures of items and heard auditory words that either matched or mismatched the pictures. Mismatches overlapped expected words in word-onset (cohort mismatches; see: DOLL, hear: dog), rhyme (CONE -bone), or were unrelated (SHELL -mug). In match trials, the SLI group showed a different pattern of N100 responses to auditory stimuli compared to the TD group, indicative of early auditory processing differences in SLI. However, the phonological mapping …

Language, Reading, And Math Learning Profiles In An Epidemiological Sample Of School Age Children., Lisa M D Archibald, Janis Oram Cardy, Marc F Joanisse, Daniel Ansari

Brain and Mind Institute Researchers' Publications

Dyscalculia, dyslexia, and specific language impairment (SLI) are relatively specific developmental learning disabilities in math, reading, and oral language, respectively, that occur in the context of average intellectual capacity and adequate environmental opportunities. Past research has been dominated by studies focused on single impairments despite the widespread recognition that overlapping and comorbid deficits are common. The present study took an epidemiological approach to study the learning profiles of a large school age sample in language, reading, and math. Both general learning profiles reflecting good or poor performance across measures and specific learning profiles involving either weak language, weak reading, weak …

A Case Of Childhood Vaccination Barrier: Migrant And Seasonal Farmworkers, İbrahi̇m Koruk, Zeynep Şi̇mşek, Süda Teki̇n Koruk

Turkish Journal of Medical Sciences

The Expanded Program on Immunization has proven to be one of the most effective public health strategies. However, the literature contends that medically disadvantaged groups have been associated with less compliance with vaccination calendars and schedules. The aim of this cross-sectional survey was to investigate the vaccination coverage of the children of migrant and seasonal farmworkers (MSFs) and to identify their specific barriers to vaccination. Materials and methods: A total of 168 children aged 12-23 months were recruited to the study from a primary healthcare center. Data were collected through a structured questionnaire targeting the issues of infant vaccination status, …

Retrospective Evaluation Of 104 Tinea Capitis Cases, Ömer Çalka, Serap Güneş Bi̇lgi̇li̇, Ayşe Serap Karadağ, Sevda Önder

Turkish Journal of Medical Sciences

Tinea capitis is a superficial scalp dermatophyte infection. Tinea capitis is particularly seen during childhood and is not usually seen after puberty. In untreated cases, it can be contagious and can progress to cicatricial alopecia. This study aimed to retrospectively evaluate cases of tinea capitis. Materials and methods: We evaluated 104 tinea capitis patients presenting to our dermatology clinic between 2007 and 2011. Results: Of these patients, 38 (36.5%) were female and 66 (63.5%) were male. The median age was 6.41 ± 3.4 years (range: 1-18 years old). The clinical types appearing in descending order were tinea capitis profunda (88.5%), …