Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH.

Introduction: Chromosomal abnormalities are mostly found in 0.5-0.8% of live-born infants with developmental and morphological defects.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.

Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.

Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias.

Hereditary spastic paraplegias (HSP) are a group of inherited, neurodegenerative disorders characterized by progressive gait impairment, lower extremity spasticity and increased patellar reflexes. More than 80 types of HSP have been defined to date. In complicated forms, lower limb spasticity and gait impairment is accompanied by an additional neurological finding.

A Systematic Review to Compare Chemical Hazard Predictions of the Zebrafish Embryotoxicity Test With Mammalian Prenatal Developmental Toxicity.

Originally developed to inform the acute toxicity of chemicals on fish, the zebrafish embryotoxicity test (ZET) has also been proposed for assessing the prenatal developmental toxicity of chemicals, potentially replacing mammalian studies. Although extensively evaluated in primary studies, a comprehensive review summarizing the available evidence for the ZET's capacity is lacking. Therefore, we conducted a systematic review of how well the presence or absence of exposure-related findings in the ZET predicts prenatal development toxicity in studies with rats and rabbits.

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.

Autosomal-recessive mutations in the Alsin Rho guanine nucleotide exchange factor (ALS2) gene may cause specific subtypes of childhood-onset progressive neurodegenerative motor neuron diseases (MND). These diseases can manifest with a clinical continuum from infantile ascending hereditary spastic paraplegia (IAHSP) to juvenile-onset forms with or without lower motor neuron involvement, the juvenile primary lateral sclerosis (JPLS) and the juvenile amyotrophic lateral sclerosis (JALS). We report 11 patients from seven unrelated Turkish and Yemeni families with clinical signs of IAHSP or JPLS.

Effect of sub-chronic exposure to cigarette smoke, electronic cigarette and waterpipe on human lung epithelial barrier function.

Background: Taking into consideration a recent surge of a lung injury condition associated with electronic cigarette use, we devised an in vitro model of sub-chronic exposure of human bronchial epithelial cells (HBECs) in air-liquid interface, to determine deterioration of epithelial cell barrier from sub-chronic exposure to cigarette smoke (CS), e-cigarette aerosol (EC), and tobacco waterpipe exposures (TW).

Methods: Products analyzed include commercially available e-liquid, with 0% or 1.2% concentration of nicotine, tobacco blend (shisha), and reference-grade cigarette (3R4F).

Adaptation of the Systematic Review Framework to the Assessment of Toxicological Test Methods: Challenges and Lessons Learned With the Zebrafish Embryotoxicity Test.

Systematic review methodology is a means of addressing specific questions through structured, consistent, and transparent examinations of the relevant scientific evidence. This methodology has been used to advantage in clinical medicine, and is being adapted for use in other disciplines. Although some applications to toxicology have been explored, especially for hazard identification, the present preparatory study is, to our knowledge, the first attempt to adapt it to the assessment of toxicological test methods.

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndrome.

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

Aim: This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia.

Methods: In total, two Turkish families with a total of nine affected individuals were included in the study. Affymetrix 250 K single nucleotide polymorphism genotyping and homozygosity mapping were used to identify the localisation of the genetic defect in question.

[Two cases of rare cerebral hydatid cyst].

Hydatid cyst disease (Echinococcosis) is a parasitic illness that is rarely located in the brain. Primary cerebral hydatid cyst disease is rarely seen. We report here rare two cases presenting with sixth cranial nerve palsy with increased intracranial pressure syndrome due to primary cerebral hydatid cyst.

Neurobrucellosis developing unilateral oculomotor nerve paralysis.

Brucellosis is a zoonotic infectious disease that is common around the world. Its clinical course demonstrates great diversity as it can affect all organs and systems. However, the central nervous system is rarely affected in the pediatric population.

Risk of recurrence after drug withdrawal in childhood epilepsy.

Objectives: After a reasonable seizure-free period, discontinuation of antiepileptic drugs (AED) is usually decided in epileptic patients despite the risk of seizure recurrence. In children, risk of recurrence after discontinuation of AED is generally 20-40%; however, there is still no general agreement on the criteria to predict safe discontinuation. This study was designed to determine the risk of recurrence and related risk factors after drug withdrawal in epileptic children.

Serum retinol and beta-carotene levels in subacute sclerosing panencephalitis.

Reduced serum levels of vitamin A affect morbidity and mortality in measles. The authors' newly diagnosed subacute sclerosing panencephalitis (n = 21) and age-matched control groups (n = 20) had mean serum beta-carotene levels of 1.12 +/- 0.

Serum zinc levels in children with acute gastroenteritis.

Background: The aim of the present study was to determine the serum zinc levels on admission and 7-10 days after clinical recovery from acute gastroenteritis of <8 days' duration.

Methods: This prospective study included 82 infants aged 2-24 months who had no associated bacterial infection, chronic disease, prior antibiotic use, moderate or severe malnutrition or dysentery. Forty-one healthy children formed the control group.

Panic disorder in a child with recurrent chest pain.

A 10-year-old boy was admitted to the Pediatric Cardiology Unit with complaints of chest pain and dizziness. Physical examination did not show any pathologic signs. Family history revealed no heart disease and diagnosis of panic disorder (PD) in one of his family members.

Cerebrospinal fluid pressures in subacute sclerosing panencephalitis.

Increased intracranial pressure can rarely be the initial symptom in subacute sclerosing panencephalitis (SSPE). We examined cerebrospinal fluid (CSF) pressures and their correlation with clinical features in 58 patients with SSPE. CSF pressure varied between 50 and 500 mmH2O, mean 210.

Cyclic vomiting with generalized epileptiform discharges responsive to topiramate therapy.

Cyclic vomiting syndrome is a disorder characterized by recurrent attacks of vomiting and intervals of normal health between vomiting episodes averaging 2-4 weeks. It has been described by a variety of names such as abdominal migraine, abdominal epilepsy, and periodic syndrome but now has been classified in the subgroup of childhood periodic syndromes that are commonly precursors of migraine. Topiramate is an antiepileptic drug used both in the treatment of epilepsy and in migraine prophylaxis.

Serum selenium levels in acute gastroenteritis of possible viral origin.

Selenium, as an essential micronutrient, is required for the proper functioning of the immune system and its deficiency affects the occurrence, virulence, or disease progression of some viral infections. We conducted a study to determine the serum selenium levels of children with acute gastroenteritis of possible viral origin and the effect of the serum selenium levels on the severity and the morbidity of the disease. The study was performed prospectively on 109 children aged 2-24 months with diarrhea of less than 8 days' duration admitted to the Diarrheal Disease Training and Treatment Unit.

Agranulocytosis: A Rare Complication of Infectious Mononucleosis and Recovery After IVIG Therapy.

A six-year-old boy was admitted with acute agranulocytosis four weeks after the onset of infectious mononucleosis. His bone marrow aspiration revealed maturation arrest of myeloid series. He was hospitalized for agranulocytosis and he was put on intravenous immunoglobulin (IVIG) (400 mg/kg/day) on the third day of hospitalization for two days.

Alpha-mannosidosis and mutational analysis in a Turkish patient.

We present a case of alpha-mannosidosis with its mutational analysis. She was referred to our hospital with the provisional diagnosis of mucolipidosis. She was the first child of second-degree relative parents.