Ventricular Tachyarrhythmia in a Newborn Baby.

Supraventricular tachycardia (SVT) is a narrow QRS complex tachyarrhythmia with a heart rate above 220 beats per minute in infants and children. Ventricular tachycardia can be due to electrolyte abnormalities, cardiomyopathies, congenital heart disease, myocarditis or drug toxicity. Incidence has been estimated to be 1 in 250 to 1 in 1000 with spontaneous resolution in infants by one year of life.

Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.

Purpose: The gold standard for identification of post-zygotic variants (PZVs) is droplet digital polymerase chain reaction or high-depth sequencing across multiple tissues types. These approaches are yet to be systematically implemented for monogenic disorders. We developed PZV detection pipelines for correct classification of de novo variants.

Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.

Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys.

The Presence of Women in the Dental Profession: A Global Survey.

Objectives: The aim of this research was to acquire knowledge about the female dental workforce, identifying factors to pursue specialty training and career choices and working in dental institutions/associations.

Methods: An original online questionnaire was developed, validated (n = 22), and sent to 189 member associations in 133 countries of the Women Dentists Worldwide section of the FDI World Dental Federation.

Results: In all, 3232 female dentists from 81 countries participated.

The study protocol: COVID-19 awareness and perception among dentists in the Russian Federation.

Objective: Coronavirus disease 2019 (COVID-19) has spread rapidly worldwide since it has been first identified in November 2018. It is transmissible via air droplets from infected individuals. Close contact between dentists and patients has aggravated the pandemic situation in Russia.

Transgenerational adverse effects of valproate? A patient report from 90 affected families.

Background: Valproate use during pregnancy increases risk in malformations and neurodevelopmental disorders. Data from the experimental setting in mice showed valproate is a direct inhibitor of histone deacetylase, inducing histone hyperacetylation, histone methylation, and DNA demethylation causing congenital malformations with an epigenetic inheritance. We investigated potential transgenerational adverse effects of valproate.

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.

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

Cerebral palsy (CP) is the most common cause of childhood physical disability, with incidence between 1/500 and 1/700 births in the developed world. Despite increasing evidence for a major contribution of genetics to CP aetiology, genetic testing is currently not performed systematically. We assessed the diagnostic rate of genome sequencing (GS) in a clinically unselected cohort of 150 singleton CP patients, with CP confirmed at >4 years of age.

Application of additional anthropometric and functional methods in children undergoing orthodontic treatment using braces.

Background: Occlusal interference causes instability in temporomandibular joint and hyperactivity of mastication muscles which eventually leads to temporomandibular joint dysfunction. Therefore, achieving stable occlusion is important in young patients. It is key factor in optimizing functional occlusion in adulthood.

Frequency of providing a palliative approach to care in family practice: a chart review and perceptions of healthcare practitioners in Canada.

Background: Most patients nearing the end of life can benefit from a palliative approach in primary care. We currently do not know how to measure a palliative approach in family practice. The objective of this study was to describe the provision of a palliative approach and evaluate clinicians' perceptions of the results.

[Use of fixed individual micro-implant supported orthodontic appliance in children with bilateral cleft lip and palate].

Unlabelled: Congenital malformations of the maxillofacial region are significant, not completely decisive, medical and social problems. Recent literature data indicate a trend towards improvement.

Purpose Of The Study: Improving the effectiveness of treatment of children with bilateral orthodontic and surgical training.

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.

How do physicians and nurses in family practice describe their care for patients with progressive life-limiting illness? A qualitative study of a 'palliative approach'.

Aim: To explore how a palliative approach to care is operationalized in primary care, through the description of clinical practices used by primary care clinicians to identify and care for patients with progressive life-limiting illness (PLLI).

Background: Increasing numbers of people are living with PLLI but are often not recognized as needing a palliative approach to care. To meet growing needs, generalists such as family physicians will need to adopt a palliative approach to care in their own setting.

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review.

Aim: To conduct a systematic review of phenotypic definition and case ascertainment in published genetic studies of cerebral palsy (CP) to inform guidelines for the reporting of such studies.

Method: Inclusion criteria comprised genetic studies of candidate genes, with CP as the outcome, published between 1990 and 2019 in the PubMed, Embase, and BIOSIS Citation Index databases.

Results: Fifty-seven studies met the inclusion criteria.

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

A growing body of evidence points to a considerable and heterogeneous genetic aetiology of cerebral palsy (CP). To identify recurrently variant CP genes, we designed a custom gene panel of 112 candidate genes. We tested 366 clinically unselected singleton cases with CP, including 271 cases not previously examined using next-generation sequencing technologies.

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

[This corrects the article DOI: 10.1038/s41525-018-0073-4.].

A Software Tool Aimed at Automating the Generation, Distribution, and Assessment of Social Media Messages for Health Promotion and Education Research.

Background: Social media offers promise for communicating the risks and health effects of harmful products and behaviors to larger and hard-to-reach segments of the population. Nearly 70% of US adults use some social media. However, rigorous research across different social media is vital to establish successful evidence-based health communication strategies that meet the requirements of the evolving digital landscape and the needs of diverse populations.

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.

High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopmental disorder diagnosed on clinical signs, not etiology.

Muscle ciliary neurotrophic factor receptor α helps maintain choline acetyltransferase levels in denervated motor neurons following peripheral nerve lesion.

Systemic ciliary neurotrophic factor (CNTF) administration protects motor neurons from denervating diseases and lesions but produces non-neuromuscular side effects. Therefore, CNTF related therapeutics will need to specifically target motor neuron protective receptor mechanisms. Expression of the essential ligand binding subunit of the CNTF receptor, CNTF receptor α (CNTFRα), is induced in skeletal muscle by denervating lesion and in human denervating diseases.

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) in 14% (14/98) of trios by exome sequencing and a further 5% (9/182) from evidence of outlier gene expression using RNA sequencing. Here, we detected copy number variants (CNV) from exomes of 186 unrelated individuals with CP (including our original 98 trios) using the CoNIFER algorithm.