Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center.

Despite the increasing availability of comprehensive next generation sequencing (NGS), its role in characterizing pediatric hematologic malignancies remains undefined. We describe findings from comprehensive genomic profiling of hematologic malignancies at a pediatric tertiary care center. Patients enrolled on a translational research protocol to aid in cancer diagnosis, prognostication, treatment, and detection of cancer predisposition.

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome.

Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin-2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains 3 (SHANK3), indicative of Phelan-McDermid syndrome. Further analysis via traditional karyotyping, Optical Genome Mapping (OGM), and PacBio long-read sequencing revealed a more complex landscape of chromosomal rearrangements in this individual, including a balanced 3;12 translocation, and an unbalanced 17;22 translocation.

Exploring the Frontiers of Mathematical Neuroscience: A Comprehensive Bibliometric Analysis.

Mathematical neuroscience is the branch of interdisciplinarity between mathematical modeling and neuroscience through computational techniques to study the structure, function, and dynamics of the brain. The objective of this paper is to undertake a comprehensive review of research trends in mathematical neuroscience and important developments in the period from 1973 to 2024. From this source of bibliographic data, Scopus alone returns 727 retrieved documents, consisting of journals, book chapters, and conference papers.

Visualizing Scholarly Trends in Stochastic Models for Disease Prediction.

Stochastic models play a pivotal role in disease prediction by accounting for randomness and uncertainty in biological systems. This study offers a visualization of trends in the application of stochastic models for disease prediction from 1990 to 2024, based on a bibliometric analysis of Scopus data. Key findings reveal a significant growth in research post-2014, largely driven by global health challenges like COVID-19.

Germline susceptibility from broad genomic profiling of pediatric brain cancers.

Background: Identifying germline predisposition in CNS malignancies is of increasing clinical importance, as it contributes to diagnosis and prognosis, and determines aspects of treatment. The inclusion of germline testing has historically been limited due to challenges surrounding access to genetic counseling, complexity in acquiring a germline comparator specimen, concerns about the impact of findings, or cost considerations. These limitations were further defined by the breadth and scope of clinical testing to precisely identify complex variants as well as concerns regarding the clinical interpretation of variants including those of uncertain significance.

Is there a difference in the clinical profile and outcome of women using levonorgestrel IUD for abnormal uterine bleeding and those using it for contraception?: A comparative cross-sectional study.

Objective: The most common indications for Levonorgestrel intrauterine device (LNG-IUD) are contraception and management of abnormal uterine bleeding (AUB). This study was conducted with the aim of exploring the differences in the clinical profile and outcome of women using LNG-IUD for contraception and AUB.

Materials And Methods: This was a retrospective comparative cross-sectional study of women who underwent LNG-IUD (52 mg) between 2012 and 2017.

Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.

Context.—: Existing targeted cystic fibrosis screening assays miss important pathogenic CFTR variants in the ethnically diverse US population.

Objective.

Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.

Introduction/aims: Exome sequencing (ES) has proven to be a valuable diagnostic tool for neuromuscular disorders, which often pose a diagnostic challenge. The aims of this study were to investigate the clinical outcomes associated with utilization of ES in the pediatric neuromuscular clinic and to determine if specific phenotypic features or abnormal neurodiagnostic tests were predictive of a diagnostic result.

Methods: This was a retrospective medical record review of 76 pediatric neuromuscular clinic patients who underwent ES.

Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.

Papillary hemangioma (PH) is a small, primarily dermal lesion occurring predominantly in the head and neck in both children and adults. Its signature characteristics are dilated thin-walled channels containing papillary clusters of mainly capillary-sized vessels and endothelial cytoplasmic eosinophilic inclusions. Given certain histopathologic similarities to congenital hemangioma which harbor mutations in GNAQ and GNA11 , we investigated whether similar mutations are present in PH.

Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements.

Gene fusions are a form of structural rearrangement well established as driver events in pediatric and adult cancers. The identification of such events holds clinical significance in the refinement, prognostication, and provision of treatment in cancer. Structural rearrangements also extend beyond fusions to include intragenic rearrangements, such as internal tandem duplications (ITDs) or exon-level deletions.

Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series.

The AIFM1 gene encodes a mitochondrial protein that acts as a flavin adenine dinucleotide-dependent nicotinamide adenine dinucleotide oxidase and apoptosis regulator. Monoallelic pathogenic AIFM1 variants result in a spectrum of X-linked neurological disorders, including Cowchock syndrome. Common features in Cowchock syndrome include a slowly progressive movement disorder, cerebellar ataxia, progressive sensorineural hearing loss, and sensory neuropathy.

Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity.

Genomic profiling using short-read sequencing has utility in detecting disease-associated variation in both DNA and RNA. However, given the frequent occurrence of structural variation in cancer, molecular profiling using long-read sequencing improves the resolution of such events. For example, the Pacific Biosciences long-read RNA-sequencing (Iso-Seq) transcriptome protocol provides full-length isoform characterization, discernment of allelic phasing, and isoform discovery, and identifies expressed fusion partners.

A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.

Chromosomal microarray (CMA) is a testing modality frequently used in pediatric patients; however, published data on its utilization are limited to the genetic setting. We performed a database search for all CMA testing performed from 2010 to 2020, and delineated the diagnostic yield based on patient characteristics, including sex, age, clinical specialty of providers, indication of testing, and pathogenic finding. The indications for testing were further categorized into Human Phenotype Ontology categories for analysis.

Phenotypic Spectrum in a Family Sharing a Heterozygous Variant.

Background And Purpose: Mutations in have classically been associated with benign familial neonatal and infantile seizures and more recently identified in patients with neurodevelopmental disorders and abnormal electroencephalogram (EEG) findings. We present 4 affected patients from a family with a pathogenic mutation in with a unique constellation of clinical findings.

Methods: A family of 3 affected siblings and mother sharing a pathogenic variant are described, including clinical history, genetic results, and EEG and magnetic resonance imaging (MRI) findings.

Characterization of few mode fiber components and connected systems.

Methods for measurement of polarization dependent loss and cross talk of individual few mode fiber components and connected systems are presented. A new method for determining the cross talk of the individual components, from the measurements on the connected system is presented and verified through simulations and measurements. The method is based on Fourier analysis of the wavelength dependent interference of the loss of the system.

Ocular manifestations in a case of Wernicke's encephalopathy due to hyperemesis gravidarum.

Wernicke's Encephalopathy (WE) is a potentially devastating disorder, which if not diagnosed and treated at the earliest, could lead to dangerous neurological and ophthalmological complications. We report the ocular manifestations of WE in a pregnant woman with hyperemesis gravidarum.

Decisions to Perform Emergency Caesarean Sections at a University Hospital: Do obstetricians agree?

Objectives: This study was undertaken to assess the degree of agreement amongst obstetricians regarding decisions to perform emergency Caesarean section (CS) procedures at a university hospital.

Methods: This retrospective clinical audit was carried out on 50 consecutive emergency CS procedures performed between November 2012 and March 2013 on women with singleton pregnancies at the Sultan Qaboos University Hospital in Muscat, Oman. Data on each procedure were collected from electronic patient records and independently reviewed by six senior obstetricians to determine agreement with the decision.

Idiopathic intracranial hypertension presenting as postpartum headache.

Postpartum headache is described as headache and neck or shoulder pain during the first 6 weeks after delivery. Common causes of headache in the puerperium are migraine headache and tension headache; other causes include pre-eclampsia/eclampsia, post-dural puncture headache, cortical vein thrombosis, subarachnoid hemorrhage, posterior reversible leukoencephalopathy syndrome, brain tumor, cerebral ischemia, meningitis, and so forth. Idiopathic intracranial hypertension (IIH) is a rare cause of postpartum headache.

Twin Pregnancy with a Complete Hydatidiform Mole and a Coexisting Live Fetus: Rare entity.

A hydatidiform mole with a coexisting live fetus is a rare occurrence and the optimal management for this condition is not yet known. We report the case of a 32-year-old woman (gravida 3, para 2) who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in March 2012 at 13 gestational weeks with abdominal pain and vaginal bleeding. An ultrasound examination revealed a hydatidiform mole pregnancy coexisting with a live fetus.