Genetic analysis and multimodal imaging identify novel mtDNA 12148T>C leading to multisystem dysfunction with tissue-specific heteroplasmy.

Patients with mitochondrial disorders present with clinically diverse symptoms, largely driven by heterogeneous mutations in mitochondrial-encoded and nuclear-encoded mitochondrial genes. These mutations ultimately lead to complex biochemical disorders with a myriad of clinical manifestations, often accumulating during childhood on into adulthood, contributing to life-altering and sometimes fatal events. It is therefore important to diagnose and characterize the associated disorders for each mitochondrial mutation as early as possible since medical management might be able to improve the quality and longevity of life in mitochondrial disease patients.

Long QT and Hearing Loss in High-Risk Infants Prospective Study Registry.

The objective of this study is to determine the prevalence of an abnormal electrocardiogram showing a prolonged QTc greater than 450 ms in infants with unilateral or bilateral sensorineural hearing loss. We conducted a prospective study of healthy term infants (≥37 weeks gestational age) who failed their newborn auditory brainstem response hearing screen, were seen by an audiologist and diagnosed as having sensorineural hearing loss during follow-up to 1 year of age. In infants with a diagnosis of hearing loss, we collected a detailed family history and performed an ECG between 2 and 6 months of age.

Unusual Suspects: The People Inside and Outside of School Who Matter in Whole School, Whole Community, Whole Child Efforts.

Background: Individuals learn and develop across their lifespan in response to the people with whom they interact in settings, communities, cultures, and experiences. Collaborative research and policy efforts underscore the critical and reparative role of identity-safe, culturally driven, and relationship-rich environments-in classrooms, schools, and communities-for the healthy social, emotional, cognitive, and physical development of all learners. These themes align closely with the Whole School, Whole Community, Whole Child (WSCC) model.

Normative data for three tests of visuocognitive function in primary school children: cross-sectional study.

Background/aims: There is an increasing recognition that visuocognitive difficulties occur in children with neurodevelopmental problems. We obtained normative data for the performance of primary school children using three tests of visuocognitive function that are practicable in a clinical setting.

Methods: We tested 214 children aged between 4 and 11 years without known developmental problems, using tests to assess (1) orientation recognition and adaptive movement (postbox task), (2) object recognition (rectangles task) and (3) spatial integration (contours task).

Effect of keratometry on visual outcomes 1 month after hyperopic LASIK.

Purpose: To determine whether preoperative, postoperative, or change in keratometry can be used to predict visual outcomes in hyperopic LASIK.

Methods: A retrospective analysis was conducted on hyperopic eyes treated at Optical Express clinics. All eyes were targeted for emmetropia and treated using wavefront-guided LASIK (VISX S4, Abbott Medical Optics [AMO]), with flaps created using a femtosecond laser (IntraLase FS-60 [AMO]).

Asymmetric dimethylarginine and mortality in stages 3 to 4 chronic kidney disease.

Background And Objectives: Asymmetric dimethylarginine (ADMA), an endogenous inhibitor of nitric oxide synthase, reduces bioavailability of nitric oxide and induces endothelial dysfunction. This dimethylated amino acid accumulates in chronic kidney disease and may be involved in the pathophysiology of cardiovascular disease (CVD) in this population.

Design, Settings, Participants, & Methods: The Modification of Diet in Renal Disease Study was a randomized, controlled trial conducted between 1989 and 1993.

Association of visceral and subcutaneous adiposity with kidney function.

Background And Objectives: Obesity is a risk factor for incident chronic kidney disease (CKD). Visceral (VAT) and subcutaneous adipose tissue (SAT) may confer differential metabolic risk profiles. The relations of VAT and SAT were analyzed with CKD as estimated by creatinine- and cystatin-based estimating equations.

Using indirect questions to detect intimate partner violence: the SAFE-T questionnaire.

A screening instrument for detecting intimate partner violence (IPV) was developed using indirect questions. The authors identified 5 of 18 items studied that clearly distinguished victims of IPV from a random group of health conference attendees with a sensitivity of 85% and a specificity of 87%. This 5-item instrument (SAFE-T) was then tested on 435 women presenting to three emergency departments and the results compared to a direct question regarding current abuse.