The phenotypic spectrum of deficiency.

The gene product (protein PTCD3 or MRPS39) forms the entry channel of the mitochondrial small ribosomal subunit and binds to single-stranded mRNA. Here, we expand on the clinical manifestations of pathogenic variants by describing an early-onset patient with Leigh-like syndrome and two patients with milder form of disease, with combined oxidative phosphorylation deficiency. A 34-year-old male and his 33-year-old sister both have horizontal nystagmus, pronounced rough tremor, truncal ataxia, dysmetria, spasticity and hyperreflexia.

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

Malate is an important dicarboxylic acid produced from fumarate in the tricarboxylic acid cycle. Deficiencies of fumarate hydrolase (FH) and malate dehydrogenase (MDH), responsible for malate formation and metabolism, respectively, are known to cause recessive forms of neurodevelopmental disorders (NDDs). The malic enzyme isoforms, malic enzyme 1 (ME1) and 2 (ME2), are required for the conversion of malate to pyruvate.

Assessment of Knowledge and Attitudes of Parents Regarding Neonatal Jaundice in Abia State Children's Specialist Hospital, Umuahia, Nigeria: A Cross-Sectional Study.

Background Neonatal jaundice, characterized by the yellow discoloration of an infant's skin and eyes, is a common condition that affects newborns. It results from an elevated level of bilirubin in the blood and, when severe, if left untreated, can lead to complications such as acute bilirubin encephalopathy and kernicterus, which can cause permanent neurological damage or even death. In low-resource settings like Nigeria, delayed recognition and inadequate management of neonatal jaundice are significant contributors to neonatal morbidity and mortality.

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging. We revisited clinical exome data from 1300 IEI patients using an updated in silico IEI gene panel. Variants were classified and curated through expert review.

Treatment Outcomes of Pulpotomy in Primary Teeth with Irreversible Pulpitis: A Systematic Review and Meta-Analysis.

Aim: This systematic review and meta-analysis aimed to evaluate the success rates of pulpotomy treatment for irreversible pulpitis in primary teeth.

Methods: This study was registered and conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols. Relevant studies published between January 1980 and April 2023 were identified across eight online databases and two paediatric dentistry textbooks.

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.

Germline gain of function variants in the oncogene ABL1 cause congenital heart defects and skeletal malformations (CHDSKM) syndrome. Whether a corresponding ABL1 deficiency disorder exists in humans remains unknown although developmental defects in mice deficient for Abl1 support this notion. Here, we describe two multiplex consanguineous families, each segregating a different homozygous likely loss of function variant in ABL1.

Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.

Background: Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in Saudi Arabia and determine the most common types in that population.

Methods: A retrospective review of electronic medical records was conducted for 63 patients with NCL (55 families) from six tertiary and referral centers in Saudi Arabia between 2008 and 2022.

Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.

Exome sequencing (ES) has identified biallelic kinesin family member 12 (KIF12) mutations as underlying neonatal cholestatic liver disease. We collected information on onset and progression of this entity. Among consecutively referred pediatric patients at our centers, diagnostic ES identified 4 patients with novel, biallelic KIF12 variants using the human GRCh38 reference sequence, as KIF12 remains incompletely annotated in the older reference sequence GRCh37.

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1.

Concomitant Kawasaki Disease and Rotavirus Infection-More Than Just a Coincidence: A Case Report.

The definitive role of viral infections, such as rotavirus, in causing Kawasaki disease (KD) remains uncertain. However, the intriguing observation of concomitant rotavirus infection and KD suggests a potential association. This study aimed to investigate this relationship.

Tuberculous chylothorax in paediatric population-a case report and systematic review of the literature.

Background: Chylothorax as part of the clinical spectrum of tuberculosis (TB) is a rare entity, especially among children. However, it is crucial for clinicians to be able to identify, correlate, and diagnose chylothorax as it poses significant morbidity to patients.

Case Description: We report on a paediatric case of pleural TB complicated with complex chylothorax, and systematically reviewing the literature for cases of tuberculous chylothorax among children particularly looking at the (I) demographic, (II) clinical presentations, (III) radiological findings, and (IV) investigations among this cohort of patients.

Expert consensus on relevant topics for undergraduate paediatric dental curriculum using the fuzzy Delphi method: a new direction for Malaysian dental education.

Background: Paediatric dentistry is a branch of dental specialty that focuses on dental care for children from infancy through adolescence. However, there is no standardised national undergraduate paediatric dental curriculum in Malaysia. The present study aimed to identify relevant topics for undergraduate paediatric dental curricula and to determine the appropriate cognitive and psychomotor levels for each topic based on the consensus among paediatric dental experts.

Submental liposuction with VASER complicated with hidradenitis suppurativa in neck area: a case report.

Hidradenitis suppurativa (HS) is a chronic inflammatory disorder that is characterized by deep-seated painful nodules, classically in the intertriginous skin and apocrine gland-rich areas of the body such as the anogenital, axillary, inframammary and inguinal regions. This is a case of a 35-year-old female, who is known to have gluteal HS, she underwent neck liposuction procedure that was then complicated by anterior neck HS, which is considered as an atypical location. The patient received medical treatment with antibiotics and showed huge improvement.

Patterns of Parental Information Seeking Behavior on Early Childhood Caries: A Qualitative Exploration.

Objectives: This study aims to explore the information-seeking behavior patterns of parents with children receiving treatment for early childhood caries (ECC).

Materials And Methods: Semistructured in-depth interviews were conducted with 20 parents of children with ECC. A topic guide was developed, focusing on questions relating to (i) the timing of their seeking information on ECC, (ii) the types of EEC information they seek, and (iii) the resources used to seek information.

Genetic Insights from Consanguineous Cardiomyopathy Families.

Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous and typically present with an autosomal dominant mode of transmission. Whole exome sequencing and autozygosity mapping was carried out in eight un-related probands from consanguineous Middle Eastern families presenting with HCM/DCM followed by bioinformatic and co-segregation analysis to predict the potential pathogenicity of candidate variants.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

Purpose: Pathogenic variants in genes encoding ubiquitin E3 ligases are known to cause neurodevelopmental syndromes. Additional neurodevelopmental disorders associated with the other genes encoding E3 ligases are yet to be identified.

Methods: Chromosomal analysis and exome sequencing were used to identify the genetic causes in 10 patients from 7 unrelated families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Purpose: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome.

Microbiota profile of new-onset celiac disease in children in Saudi Arabia.

Background: Intestinal dysbiosis has been reported to be associated with celiac disease (CeD) in Western populations but little is known in other populations who have different dietary lifestyle and genetic background. The purpose of this study was to determine whether a different microbiota profile is associated with CeD in children in Saudi Arabia.

Results: Forty children with CeD, 20 healthy controls, and 19 non-CeD controls were enrolled.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

The leucine-rich glioma-inactivated (LGI) family consists of four highly conserved paralogous genes, LGI1-4, that are highly expressed in mammalian central and/or peripheral nervous systems. LGI1 antibodies are detected in subjects with autoimmune limbic encephalitis and peripheral nerve hyperexcitability syndromes (PNHSs) such as Isaacs and Morvan syndromes. Pathogenic variations of LGI1 and LGI4 are associated with neurological disorders as disease traits including familial temporal lobe epilepsy and neurogenic arthrogryposis multiplex congenita 1 with myelin defects, respectively.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Cirrhosis is usually a late-onset and life-threatening disease characterized by fibrotic scarring and inflammation that disrupts liver architecture and function. While it is typically the result of alcoholism or hepatitis viral infection in adults, its etiology in infants is much less understood. In this study, we report 14 children from ten unrelated families presenting with a syndromic form of pediatric liver cirrhosis.

HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is a rare inborn error of leucine degradation and ketone body synthesis, caused by homozygous or compound heterozygous disease-causing variants in . To understand the natural history of this disease, we reviewed the biochemical, clinical, and molecular data of 62 patients from 54 different families with confirmed HMG-CoA lyase deficiency (HMGCLD) diagnosis from Saudi Arabia. The majority of the affected individuals were symptomatic.