Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies.

Increasingly long and complex informed consents have yielded studies demonstrating comparatively low participant and with traditional face-to-face approaches. In parallel, interest in electronic consents for clinical and research genomics has steadily increased, yet limited data are available for trio-based genomic discovery studies. We describe the design, development, implementation, and validation of an electronic iConsent application for trio-based genomic research deployed to support genomic studies of cerebral palsy.

Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.

Background: Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopathy, and cerebral palsy phenotypes. Both seizures and movement disorders can be highly treatment-refractory.

Results: We describe a targeted ABA n-of-1 treatment trial with intrathecal MgSO, rationally designed based on the electrophysiologic properties of this gain of function mutation in the GRIN1 NMDA subunit.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. In addition, 25/47 affected individuals (53%) presented with microcephaly, developmental delay/intellectual disability, cerebral palsy, and/or epilepsy.

Insights From Genetic Studies of Cerebral Palsy.

Cohort-based whole exome and whole genome sequencing and copy number variant (CNV) studies have identified genetic etiologies for a sizable proportion of patients with cerebral palsy (CP). These findings indicate that genetic mutations collectively comprise an important cause of CP. We review findings in CP genomics and propose criteria for CP-associated genes at the level of gene discovery, research study, and clinical application.

Variability in Cerebral Palsy Diagnosis.

Background: Cerebral palsy (CP) is the most common childhood motor disability. The emergence of genetic CP etiologies, variable inclusion of hypotonic CP in international registries, and involvement of different medical disciplines in CP diagnosis can promote diagnostic variability. This variability could adversely affect patients' understanding of their symptoms and access to care.

Treatment Timing, EEG, Neuroimaging, and Outcomes After Acute Necrotizing Encephalopathy in Children.

Background: Acute necrotizing encephalopathy (ANE) is a rare condition associated with rapid progression to coma and high incidence of morbidity and mortality.

Methods: Clinical, electroencephalographic (EEG), and brain magnetic resonance imaging (MRI) characteristics and immunomodulatory therapy timing were retrospectively analyzed in children with ANE. ANE severity scores (ANE-SS) and MRI scores were also assessed.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases. Eight genes had multiple damaging de novo mutations; of these, two (TUBA1A and CTNNB1) met genome-wide significance.

The complex radicular groove: interdisciplinary management with mineral trioxide aggregate and bone substitute.

This article is a case report of the successful interdisciplinary management of a maxillary lateral incisor with a deep palatogingival groove. The tooth presented with severe periodontal destruction owing to the deep extension of the groove up to the root apex. The groove was meticulously diagnosed and treated by endodontic and subsequent periodontal surgery leading to complete resolution of the pathological process.

A comparative microbiological study to assess caries excavation by conventional rotary method and a chemo-mechanical method.

Aims: This study was aimed to determine the effectiveness of Papacárie(®) for caries removal as compared to the conventional method with respect to microbial flora, time, the amount of tissue removal, child's behavior, pain perception, and preference of treatment.

Materials And Methods: Sixty primary molars of 30 children of age 4-9 years were selected randomly and divided into two groups of 30 teeth each: Group A treated by conventional method and group B with Papacárie(®) method.

Results: Comparatively, no statistical difference was seen in microbial growth, total bacterial count, and lactobacilli count in both the groups (P = 0.

Trichotillomania in children: the occult truth.

A major emphasis of modern-day pediatric dental care is a holistic approach to children and the importance of treating them as individuals and not merely as patients with mouth diseases. We should not restrict ourselves to the oral cavity alone, but also explore the mind of an individual, for in it lays the hidden clue to successful management. In order to achieve this, we need to meet the mind of the child before meeting the mouth.

Wilderness rescue and border enforcement along the Arizona Mexico border--the Border Patrol Search, Trauma and Rescue Unit.

Objective: To introduce and describe the US Border Patrol (USBP) Tucson Sector Border Patrol Search, Trauma and Rescue Unit (BORSTAR) and to analyze whether the frequency of its activities were associated with the amount of total border patrol law enforcement activities in the area.

Methods: Descriptive and nonparametric analysis was conducted on data that were obtained on total USBP apprehensions of undocumented immigrants and BORSTAR activities for a consecutive 3-year period.

Results: From October 2004 to September 2007 over 1 million apprehensions occurred within the Tucson Sector.

Z-score for benchmarking reader competence in a central ECG laboratory.

Background: ECGs from thorough QT studies must be read in a central laboratory by trained experts. Standards of expertise are not presently defined. We, therefore, studied the use of Z-scores to define reader competence.

Ventricular tachycardia in structurally normal hearts: recognition and management.

Idiopathic ventricular tachycardia is a defined set of tachycardias when structural or pathological cause has been ruled out for the same. This paper tries to define and classify these arrhythmias to organize a logical therapeutic approach to deal with them. 60-80% of the idiopathic tachycardias originate from the right ventricular outflow tract (RVOT) and in 10% from the left ventricular outflow tract (LVOT).

Heart failure: a unique presentation of typical atrioventricular nodal reentrant tachycardia.

Cardiomyopathy due to various ventricular and supraventricular arrhythmias, including isolated cases of atypical atrioventricular nodal reentrant tachycardia, have been described. In this case report typical slowfast atrioventricular nodal reentrant tachycardia resulting in cardiomyopathy is being documented for the first time. In the setting of depressed left ventricular function, an episode of tachycardia pushed this patient into heart failure.

Selective chemosensitization of rhabdomyosarcoma cell lines following wild-type p53 adenoviral transduction.

Rhabdomyosarcoma (RMS) cell lines were transduced with an adenoviral vector containing the wild-type p53 (wtp53) cDNA (Ad-p53) and then exposed to four cytotoxic agents: actinomycin D, vincristine, 5-fluorouracil and bleomycin. Potentiation of cytotoxicity following wild-type p53 expression varied from 0- to 20-fold for different drugs and between cell lines. It appeared that alveolar RMS cells (n = 2) were more susceptible to p53-mediated chemosensitization than embryonal RMS cells (n = 3), although this was independent of pax3-FKHR expression.