Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.

Pathogenic PHF21A variation causes PHF21A-related neurodevelopmental disorders (NDDs). Although amorphic alleles, including haploinsufficiency, have been established as a disease mechanism, increasing evidence suggests that missense variants as well as frameshift variants extending the BHC80 carboxyl terminus also cause disease. Expanding on these, we report a proposita with intellectual disability and overgrowth and a novel de novo heterozygous PHF21A splice variant (NM_001352027.

Global trends and decision-making in the management of arachnoid cysts.

Objective: In pediatric patients, middle cranial fossa (MCF) arachnoid cysts are often discovered incidentally on imaging in asymptomatic patients during workup for other indications. This study aims to describe current management gestalt and threshold for surgical intervention by surveying an international cohort of neurosurgeons.

Methods: A web-based survey was circulated via email list of attendants of the 2019 Canadian Pediatric Neurosurgery Study Group (CPNSG) and International Society of Pediatric Neurosurgery (ISPN) mailing list.

Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.

Tandem splice acceptors (NAGN AG) are a common mechanism of alternative splicing, but variants that are likely to generate or to disrupt tandem splice sites have rarely been reported as disease causing. We identify a pathogenic intron 23 CLTC variant (NM_004859.4:c.

The Canadian Consortium for Research in Pediatric Surgery: Roadmap for Creation and Implementation of a National Subspecialty Research Consortium.

Clinical practice should be driven by high-quality research that produces evidence to inform best practices. Generation of such evidence is often challenging, particularly for smaller specialties, such as pediatric surgery, that treat many patients with rare diseases. Multi-institutional collaboration is seen as a major strategy to address these challenges.

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?

Alternative use of short distance tandem sites such as NAGN AG are a common mechanism of alternative splicing; however, single nucleotide variants are rarely reported as likely to generate or to disrupt tandem splice sites. We identify a pathogenic intron 5 STK11 variant (NM_000455.4:c.

Treatment and Outcomes of Congenital Ovarian Cysts A Study by the Canadian Consortium for Research in Pediatric Surgery (CanCORPS).

Objective: We conducted a multicenter study to assess treatments and outcomes in a national cohort of infants with congenital ovarian cysts.

Summary Background Data: Wide variability exists in the treatment of congenital ovarian cysts. The effects of various treatment strategies on outcomes, specifically ovarian preservation, are not known.

Differentiating congenital ovarian cysts from other abdominal cystic lesions in female infants: A study by the Canadian Consortium for Research in Pediatric Surgery (CanCORPS).

Purpose: The origin of congenital abdominal cysts in the female fetus often dictates management. While most arise from the ovary and are often managed non-operatively, some are non-ovarian and are frequently removed. We analyzed a national sample of female infants with congenital abdominal cysts to elucidate prenatal and postnatal factors associated with the diagnosis of a non-ovarian cyst.

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?

Monoallelic pathogenic variants in BICD2 are associated with autosomal dominant Spinal Muscular Atrophy Lower Extremity Predominant 2A and 2B (SMALED2A, SMALED2B). As part of the cellular vesicular transport, complex BICD2 facilitates the flow of constitutive secretory cargoes from the trans-Golgi network, and its dysfunction results in motor neuron loss. The reported phenotypes among patients with SMALED2A and SMALED2B range from a congenital onset disorder of respiratory insufficiency, arthrogryposis, and proximal or distal limb weakness to an adult-onset disorder of limb weakness and contractures.

Long term outcome of Selective Dorsal Rhizotomy for the management of childhood spasticity-functional improvement and complications.

Background: Selective dorsal rhizotomy (SDR) for the management of lower extremity spasticity is a surgical technique that has existed since the 1900s. While much evidence supports its efficaciousness in reducing tone in the short term, limited information exists detailing the long-term outcome and evolution over time of patients undergoing SDR.

Methods: All publications with 10 years or more of outcome data on patients undergoing SDR were identified from Medline and Embase databases using the search term "Rhizotmy.

Factors associated with nodal metastasis in 2-centimeter or less non-small cell lung cancer.

Objective: Lymph node involvement is an important determinant of treatment and prognosis in non-small cell lung cancer (NSCLC) and must be determined via surgical lymph node (LN) evaluation. However, lymphadenectomy is associated with multiple significant morbidities. Recent studies have suggested LN evaluation can be foregone in some or all patients with NSCLC ≤2.

Systematic review of spinal deformities following multi-level selective dorsal rhizotomy.

Purpose: Cerebral palsy is a common neurological disorder that involves spasticity of the extremities and can lead to lifelong disability. Selective dorsal rhizotomy (SDR) can improve spasticity and quality of life in these patients, but it may be associated with the development of spinal deformity. Risk factors for spinal deformity after SDR have not yet been systematically examined.

The Role of Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.

Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the gene as a likely key player in head size anomalies.

Outcomes From Referrals and Unscheduled Visits From Community Emergency Departments to a Regional Pediatric Emergency Department in Canada.

Objectives: Existing pediatric literature describing repeat visits to the emergency department (ED) for the same medical complaint has yet to report on patient flow patterns from general EDs (GEDs) to a pediatric ED (PED). We sought to characterize the population of patients who are treated in a GED and subsequently present to a PED for further care.

Methods: We conducted a retrospective cohort study reviewing all pediatric visits (age < 17 y) at 5 GEDs in Vancouver.

Outcome of patients with gastroschisis managed with and without multidisciplinary teams in Canada.

Objective: To describe the outcomes of gastroschisis (GS) patients managed with and without a multidisciplinary team during the postoperative period in Canada.

Method: The Canadian Pediatric Surgery Network (CAPSNet) collects patient data from all Canadian tertiary perinatal centres. The outcomes of 396 GS patients born between 2005 and 2009 who were managed with and without a multidisciplinary team were analyzed.

Transfusion-associated necrotising enterocolitis in neonates.

Objective: To evaluate the association between blood transfusion in previous 2 days and necrotising enterocolitis (NEC) in infants admitted to neonatal intensive care units in Canada.

Patients And Methods: Using the Canadian Neonatal Network database of admissions to neonatal intensive care units from 2003 to 2008, cases with NEC were matched with controls by gestational age (GA) at birth. Exposure to transfusion within 2 days of NEC (for cases) or 2 days before the median age of NEC diagnosis among cases of the same GA (for controls) was determined.

MRI of the fetal eyes: morphologic and biometric assessment for abnormal development with ultrasonographic and clinicopathologic correlation.

Background: Currently ocular biometric measurements are defined by US and are measured from the orbital walls. These bony landmarks cannot be seen by MRI, and therefore these measurements cannot be directly applied.

Objective: To define measurements of normal growth of the fetal eyes using MRI.

The fetal cerebellar vermis: assessment for abnormal development by ultrasonography and magnetic resonance imaging.

Fetal magnetic resonance provides a new tool in the imaging of the posterior fossa and is proving useful in cases that are difficult to assess sonographically by allowing further assessment of the fourth ventricle, cisterna magna, and vermian growth and development. We describe various criteria with which to evaluate vermian growth, including vermian biometry and the relationship between the superior and inferior lobes. We demonstrate 2 markers of normal vermian development: the primary fissure and fastigial point.

The cisterna magna septa: vestigial remnants of Blake's pouch and a potential new marker for normal development of the rhombencephalon.

Objective: The purpose of this study was to show the normal sonographic embryologic anatomy of the cisterna magna septa, fourth ventricle, and cerebellar vallecula at various stages of development and our experience with their variable appearance in multiple planes and to discuss the probable relationship between the cisterna magna septa, Dandy-Walker continuum, mega cisterna magna, and persistent Blake's pouch.

Methods: Retrospective and prospective selection of examples of cisterna magna septa was performed over approximately a 12-month period. Standard and nonstandard imaging planes were adopted as necessary.

Comparison of multidetector CT and barium studies of the small bowel: inflammatory bowel disease in children.

Objective: We compared barium studies of the small bowel with multidetector CT (MDCT) in the evaluation of the small bowel during the initial presentation of inflammatory bowel disease in a pediatric population.

Subjects And Methods: This was a prospective study. Eighteen children undergoing workup for inflammatory bowel disease underwent MDCT, colonoscopy, and barium studies of the small bowel before commencement of therapy.

Developmental changes in pain expression in premature, full-term, two- and four-month-old infants.

The purpose of this study was to examine the behavioural responses of infants to pain stimuli across different developmental ages. Eighty infants were included in this cross-sectional design. Four subsamples of 20 infants each included: (1) premature infants between 32 and 34 weeks gestational age undergoing heel-stick procedure; (2) full-term infants receiving intramuscular vitamin K injection; (3) 2-month-old infants receiving subcutaneous injection for immunisation against DPT; and (4) 4-month-old infants receiving subcutaneous injection for immunisation against DPT.

Vaccines for prevention of head and neck infections.

Many current vaccines are directed against pathogens that infect the upper airway on their way to causing greater damage elsewhere in the body. This article focuses on vaccines against pathogens that contribute importantly to infections of the head and neck per se. The discussion includes vaccines for diphteria, mumps, measles, HIB infections, and infections caused by Streptococcus pneumoniae.