Multiparametric Imaging for Presurgical Planning of Craniopagus Twins: The Experience of Two Tertiary Pediatric Hospitals with Six Sets of Twins.

Conjoined twins are rare and pose a challenge to radiologists and surgeons. Craniopagus twins, where conjunction involves the cranium, are especially rare. Even in large pediatric centers, radiologists are unlikely to encounter more than one such event in their medical careers.

Isolated Intraocular Relapse of Pediatric B-cell Precursor Acute Lymphoblastic Leukaemia Following Chimeric Antigen Receptor T-lymphocyte Therapy.

Chimeric antigen receptor T-lymphocytes (CAR T) targeting the CD19 surface antigen have achieved a breakthrough in the treatment of multiply relapsed and refractory bone marrow (BM) disease in childhood B-cell precursor acute lymphoblastic leukaemia (B-ALL). The ability of CAR T therapy to treat extramedullary (EM) disease is less proven. However, early reports suggest trafficking of CART-cells to the central nervous system (CNS) as well as other EM sites.

Comprehensive MRI assessment of the cardiovascular responses to food ingestion in Fontan physiology.

In univentricular (Fontan) physiology, peripheral and splanchnic vascular tone may be raised to counteract reduced cardiac output (CO) and elevated central venous pressure and thus maintain vital organ perfusion. This could negatively affect the normal cardiovascular response to food ingestion, where mesenteric vasodilation and a concurrent rise in CO are central. We sought to elucidate this using rapid cardiovascular MRI.

Relative Hypotension and Adverse Kidney-related Outcomes among Critically Ill Patients with Shock. A Multicenter, Prospective Cohort Study.

There are no prospective observational studies exploring the relationship between relative hypotension and adverse kidney-related outcomes among critically ill patients with shock. To investigate the magnitude of relative hypotension during vasopressor support among critically ill patients with shock and to determine whether such relative hypotension is associated with new significant acute kidney injury (AKI) or major adverse kidney events (MAKE) within 14 days of vasopressor initiation. At seven multidisciplinary ICUs, 302 patients, aged ≥40 years and requiring ≥4 hours of vasopressor support for nonhemorrhagic shock, were prospectively enrolled.

Infant With SARS-CoV-2 Infection Causing Severe Lung Disease Treated With Remdesivir.

We describe an ex-premature infant presenting with severe acute respiratory syndrome coronavirus 2 infection in the fifth week of life. In current reports, researchers indicate that acute symptomatic severe acute respiratory syndrome coronavirus 2 infection is relatively rare and much less severe than in adults. This case highlights that infection can be associated with life-threatening pulmonary disease in young infants and that infection can follow a similar disease course to that described in adults.

Counseling and surveillance of obstetrical risks for female childhood, adolescent, and young adult cancer survivors: recommendations from the International Late Effects of Childhood Cancer Guideline Harmonization Group.

Female childhood, adolescent, and young adult cancer survivors have an increased risk of adverse pregnancy outcomes related to their cancer- or treatment-associated sequelae. Optimal care for childhood, adolescent, and young adult cancer survivors can be facilitated by clinical practice guidelines that identify specific adverse pregnancy outcomes and the clinical characteristics of at-risk subgroups. However, national guidelines are scarce and vary in content.

Inherited Renal Tubulopathies-Challenges and Controversies.

Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism. Establishing a genetic diagnosis in patients with renal tubular dysfunction is a challenging task given the genetic and phenotypic heterogeneity, functional characteristics of the genes involved and the number of yet unknown causes.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 and modulating actin cytoskeleton remodeling. Pathogenic variants in TRIO are associated with neurodevelopmental diseases, including intellectual disability (ID) and autism spectrum disorders (ASD). Here, we report the largest international cohort of 24 individuals with confirmed pathogenic missense or nonsense variants in TRIO.

Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review.

The field of prenatal screening and diagnosis for fetal anomalies has been marked by a rapid succession of technological advances, including most notably, chromosomal microarray analysis, and next generation sequencing. Despite the diagnostic advantages of these technologies, their incorporation into prenatal testing has created additional challenges of revealing genomic variants of unknown or uncertain significance, and secondary findings. While detailed posttest counseling about uncertain variants is best performed by medical geneticists, many of the screening and diagnostic tests that lead to this information are actually ordered by general maternity health care professionals (HCPs), such as obstetricians, midwives, and family physicians.

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.

Hereditary tubulopathies are rare diseases with unknown prevalence in adults. Often diagnosed in childhood, hereditary tubulopathies can nevertheless be evoked in adults. Precise diagnosis can be difficult or delayed due to insidious development of symptoms, comorbidities and polypharmacy.

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Objective: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encephalopathies. We delineate the genetic causes and genotype-phenotype correlations of a large EIMFS cohort.

Methods: Phenotypic and molecular data were analyzed on patients recruited through an international collaborative study.

Cross-transmission Is Not the Source of New Mycobacterium abscessus Infections in a Multicenter Cohort of Cystic Fibrosis Patients.

Background: Mycobacterium abscessus is an extensively drug-resistant pathogen that causes pulmonary disease, particularly in cystic fibrosis (CF) patients. Identifying direct patient-to-patient transmission of M. abscessus is critically important in directing an infection control policy for the management of risk in CF patients.

Expanding the Distinctive Neuroimaging Phenotype of Mutations.

Background And Purpose: mutations in are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed.

Materials And Methods: Neuroimaging studies from 13 patients with heterozygous mutations in and 1 patient with pathognomonic clinicoradiologic findings for mutation were retrospectively reviewed.

Developmental conduction aphasia after neonatal stroke.

Objective: Impairment of speech repetition following injury to the dorsal language stream is a feature of conduction aphasia, a well-described "disconnection syndrome" in adults. The impact of similar lesions sustained in infancy has not been established.

Methods: We compared language outcomes in term-born individuals with confirmed neonatal stroke (n = 30, age = 7-18 years, left-sided lesions in 21 cases) to matched controls (n = 40).

Comparison of Quality and Output of Different Optimal Perimetric Testing Approaches in Children With Glaucoma.

Importance: There is limited evidence to support the development of guidance for visual field testing in children with glaucoma.

Objective: To compare different static and combined static/kinetic perimetry approaches in children with glaucoma.

Design, Setting, And Participants: Cross-sectional, observational study recruiting children prospectively between May 2013 and June 2015 at 2 tertiary specialist pediatric ophthalmology centers in London, England (Moorfields Eye Hospital and Great Ormond Street Hospital).

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Objective: 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.

Methods: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported.

Genotype-Phenotype Associations of IL6 and PRG4 With Conjunctival Fibrosis After Glaucoma Surgery.

Importance: Postsurgical fibrosis is a critical determinant of the long-term success of glaucoma surgery, but no reliable biomarkers are currently available to stratify the risk of scarring.

Objective: To compare the clinical phenotype of patients with conjunctival fibrosis after glaucoma surgery with candidate gene expression tissue biomarkers of fibrosis.

Design, Setting, And Participants: In this cross-sectional study, 42 patients were recruited at the time of glaucoma surgery at the Moorfields Eye Hospital from September 1, 2014, to September 1, 2016.

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Rare kidney diseases encompass at least 150 different conditions, most of which are inherited. Although individual rare kidney diseases raise specific issues, as a group these rare diseases can have overlapping challenges in diagnosis and treatment. These challenges include small numbers of affected patients, unidentified causes of disease, lack of biomarkers for monitoring disease progression, and need for complex care.

Range and Heterogeneity of Outcomes in Randomized Trials of Pediatric Chronic Kidney Disease.

Objective: To determine the range and heterogeneity of outcomes reported in randomized controlled trials of interventions for children with chronic kidney disease (CKD).

Study Design: The Cochrane Kidney and Transplant Specialized Register was searched to March 2016. Randomized trials involving children across all stages of CKD were selected.

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.

We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.

Quantitative analysis of fetal facial morphology using 3D ultrasound and statistical shape modeling: a feasibility study.

Background: The antenatal detection of facial dysmorphism using 3-dimensional ultrasound may raise the suspicion of an underlying genetic condition but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and noninvasive prenatal testing, not all genetic conditions can be ascertained from such testing.

Objectives: The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal 3-dimensional ultrasound volumes and statistical shape modeling.

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both.

Can a Flavored Spray (Pill Glide) Help Children Swallow Their Medicines? A Pilot Study.

Pediatric pharmacists are constantly faced with the challenges of supporting children and caregivers for whom the difficulties of swallowing medicines can be a daily struggle. Most medicines are only available as tablets and capsules, and where liquid alternatives exist, these products often have issues with palatability and high costs. The objective of this study was to evaluate whether the swallowing spray, Pill Glide, could help children in taking their solid and liquid medicines.

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

Heterozygous mutations of the HNF1B gene are the commonest known monogenic cause of developmental kidney disease. Half of patients have a deletion (approximately 1.3 Mb) of chromosome 17q12, encompassing HNF1B plus 14 additional genes.