A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.

Rhabdomyolysis is a severe condition involving the breakdown of skeletal muscle fibers, leading to the release of muscle components into the bloodstream, which can lead to potential complications such as acute kidney injury and electrolyte imbalances. The etiology of rhabdomyolysis is multifactorial, encompassing traumatic, exertional, metabolic, infectious, toxic, and genetic causes. Genetic causes, including variants in LPIN1, RYR1, and CACNA1S, are increasingly recognized as significant contributors to recurrent rhabdomyolysis.

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.

Introduction: Rare and ultra-rare genetic conditions significantly contribute to infant morbidity and mortality, often presenting with atypical features and genetic heterogeneity that complicate management. Rapid genome sequencing (RGS) offers a timely and cost-effective approach to diagnosis, aiding in early clinical management and reducing unnecessary interventions. This pilot study represents the inaugural use of next-generation sequencing (NGS) as a diagnostic instrument for critically ill neonatal and pediatric ICU patients in a Turkish hospital setting.

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.

Pediatric patients with undiagnosed conditions, particularly those suspected of having Mendelian genetic disorders, pose a significant challenge in healthcare. This study investigates the diagnostic yield of whole-genome sequencing (WGS) in a pediatric cohort with diverse phenotypes, particularly focusing on the role of clinical expertise in interpreting WGS results. A retrospective cohort study was conducted at Acibadem University's Maslak Hospital in Istanbul, Turkey, involving pediatric patients (0-18 years) who underwent diagnostic WGS testing.

-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.

Introduction: Hereditary forms of intellectual disability (ID), an estimated prevalence ranging between 1% and 3% in the general population, are among the most important problems in health care. Especially, autosomal-recessive ID has a very heterogeneous molecular basis and a lack of specific phenotypic features.

Methods: Here, we report on two unrelated patients with autosomal-recessive ID, microcephaly, and autistic features and review the patients with TRAPPC9-related ID.

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.

Lissencephaly (LIS) is a malformation of cortical development due to deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. Thirty-one LIS-associated genes have been previously described. Recently, biallelic pathogenic variants in CRADD and PIDD1, have associated with LIS impacting the previously established role of the PIDDosome in activating caspase-2.

Concentration levels, spatial variations and exchanges of polychlorinated biphenyls (PCBs) in ambient air, surface water and sediment in Bursa, Türkiye.

In this study, ambient air, surface water and sediment samples were simultaneously collected and analyzed for PCBs to investigate their levels, spatial variations and exchanges between these three compartments at different sampling sites for 12 months in Bursa, Türkiye. During the sampling period, a total of 41 PCB concentrations were determined in the ambient air, surface water (dissolved and particle phase) and sediment. Thus, 945.

KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.

Potassium voltage-gated channel subfamily B member 1 () encodes Kv2.1 potassium channel. KCNB1 mutations are known to cause global developmental delay, behavioral disorders, and various epilepsies.

Determining the effects of geomorphological factors on the distribution of land use and plant cover by different statistical methods.

The aim of this study is to determine the role of geomorphological factors in land use and plant cover organization. For this purpose, the relationship between geomorphological factors such as geomorphological unit, elevation, slope, aspect, and curvature with land use and plant cover was analyzed using GIS (Geographical Information Systems) techniques and statistical methods (zonal analysis, correlation analysis, regression analysis). Using zonal analysis, the boundaries of both land use patterns and plant species are clearly drawn according to geomorphological factors.

Concentration levels and an assessment of human health risk of polycyclic aromatic hydrocarbons (PAHs) and polychlorinated biphenyls (PCBs) in honey and pollen.

Persistent organic pollutants (POPs) such as polycyclic aromatic hydrocarbons (PAHs) and polychlorinated biphenyls (PCBs) accumulate in the food chain due to their physical and chemical properties and adversely affect human health. For this reason, this study aimed to determine the PAH and PCB concentration levels in pollen and honey samples in urban and semi-urban areas and to evaluate the risk of cancer that may occur by ingestion in Bursa, Turkey. The average total concentrations of 14 PAH (∑PAH) compounds in pollen and honey samples were found to be 304.

Is There a Tendency for Autoimmunity in Neurofibromatosis Type 1? -Case Reports.

Autoimmune diseases have been reported in association with neurofibromatosis type 1 (NF1) in adults. Two children with NF1 and concurrent autoimmune diseases: antimuscle-specific kinase antibody-positive myasthenia and juvenile idiopathic arthritis are reported. The possible mechanisms of autoimmunity in NF1, particularly dysregulation in T lymphocyte proliferation and exposure to free DNA were discussed.

Atmospheric concentration, spatial variations, and source identification of persistent organic pollutants in urban and semi-urban areas using passive air samplers in Bursa, Turkey.

In this study, the concentration of ambient persistent organic pollutants (POPs) such as polycyclic aromatic hydrocarbons (PAHs), polychlorinated biphenyls (PCBs), and organochlorine pesticides (OCPs) were measured for 12 months in urban and semi-urban areas using a passive air sampler. During the sampling period, a total of 14 PAH (∑PAH) concentrations measured in urban and semi-urban areas were found to be 54.4 ± 22.

Existence of SARS-CoV-2 RNA on ambient particulate matter samples: A nationwide study in Turkey.

Coronavirus disease 2019 (COVID-19) is caused by the SARS-CoV-2 virus and has been affecting the world since the end of 2019. The disease led to significant mortality and morbidity in Turkey, since the first case was reported on March 11th, 2020. Studies suggest a positive association between air pollution and SARS-CoV-2 infection.

Organochlorine pesticides in honeybee, pollen and honey in Bursa, Turkey.

g-In this study, the presence of OCP residues in the honeybee, pollen and honey samples in urban and semi-urban areas were investigated. A total of 10 OCP concentrations (∑OCP) in honeybee samples were 39.14 ± 11.

Characterization, source apportionment, air/plant partitioning and cancer risk assessment of atmospheric PAHs measured with tree components and passive air sampler.

In this study, ambient air and olive tree components (leaf and branch) were simultaneously collected and analyzed for polycyclic aromatic hydrocarbons (PAHs) to investigate their levels and accumulations, temporal variations, possible sources, air-plant partitioning and cancer risks for 12 months. During the sampling period, total of 14 PAH (∑PAH) concentrations measured in the olive leaves (dissolved and particle phase) and braches (1- and 2-year-old) were 593 ± 472, 81 ± 67, 558 ± 273 and 316 ± 213 ng/g dry weight (DW), respectively. Similarly, the average ∑PAH concentrations measured in the ambient air was found to be 15 ± 16 ng/m.

Atmospheric concentration, source identification, and health risk assessment of persistent organic pollutants (POPs) in two countries: Peru and Turkey.

It is known that some persistent organic pollutants (POPs) are used worldwide, and these pollutants are dangerous for human health. However, there are still countries where measurements of these pollutants have not been adequately measured. Although many studies have been published for determining the concentrations of POPs in Turkey, there are limited studies in Latin American countries like Peru.

Biomonitoring and Source Identification of Polycyclic Aromatic Hydrocarbons (PAHs) Using Pine Tree Components from Three Different Sites in Bursa, Turkey.

Pine trees are used as biomonitoring agents to evaluate atmospheric polycyclic aromatic hydrocarbons (PAHs). Due to industrialization, urban construction, and rapid population growth, the city of Bursa is experiencing air pollution. In this study, PAHs were measured in pine tree branches and needles at a wastewater treatment plant site, an industrial site, and semirural site in Bursa for 12 months.

Atmospheric Polycyclic Aromatic Hydrocarbons (PAHs) at Two Sites, in Bursa, Turkey: Determination of Concentrations, Gas-Particle Partitioning, Sources, and Health Risk.

This study investigated the concentration of polycyclic aromatic hydrocarbons (PAHs) using particle and gas-phase air samples collected in the Ovaakca and Cumalikizik region of Bursa, between May and September 2017. The concentration of ΣPAH measured in the gas phase, for Ovaakca and Cumalikizik, were 5.32 ± 1.

Determination of polychlorinated biphenyls in honeybee, pollen, and honey samples from urban and semi-urban areas in Turkey.

In recent years, honeybees and bee products such as pollen and honey have been used as bioindicators for monitoring environmental pollution. Unfortunately, there are few studies about polychlorinated biphenyl (PCB) concentrations in honeybees and bee products from Turkey. Honeybee and pollen samples were taken between May and September 2017, and honey samples were taken between July and September 2017 at urban and semi-urban areas in Bursa (Turkey).

Assessments of seasonal trend, gas-particle partitioning and deposition flux of polycyclic aromatic hydrocarbons at a semi-rural site.

Air samples were collected at a semi-rural area between February 2013 and February 2014 to determine the concentrations and gas/particle partitionings of polycyclic aromatic hydrocarbons (PAHs). The sampling was done with a high volume air sampler to cover four seasons and 40 samples were taken. Each sample period was about 24 h.

Evaluation and application of a passive air sampler for polycylic aromatic hydrocarbons (PAHs).

Sampling of 15 PAHs by the use of both passive air sampler developed (D-PAS) in our research group and PAS (C-PAS) having widespread use in the literature was conducted to compare the performances of the samplers. Sampling was carried out for 1-year period (February 2013-February 2014), in different sampling periods by employing D-PAS and C-PAS. D-PAS and C-PAS were run in parallel for 10, 20, 30, 40 and 60 days.

Effects of sampling interval on the passive air sampling of atmospheric PCBs levels.

In this study, we collected Polychlorinated biphenyls (PCBs) using passive air samplers (PASs), between February 4, 2013 and February 2, 2014, with the sampling periods ranging from 10 to 60 days. The samples were collected with PASs that contained polyurethane foam (PUF). With these samples, 87 PCB congeners were analyzed.

Monitoring of Long-Term Outdoor Concentrations of PAHs with Passive Air Samplers and Comparison with Meteorological Data.

The passive air sampler (PAS) is a common and useful tool for the sampling of semivolatile organic compounds in the ambient air. In a study performed in a semirural area of Bursa, sampling of polycyclic aromatic hydrocarbons (PAHs), was completed between February 4, 2013, and February 3, 2014, during 10-, 20-, 30-, 40- and 60 day periods for 1 year. To determine polycyclic aromatic compounds (PAH) concentrations, 3 PASs and 1 high-volume air sampler were run simultaneously, and sampling rates (R [m(3)/d]) were calculated seasonally and according to the ring numbers of the PAHs.

Glycoprotein Ib-alpha Kozak polymorphism in ischemic stroke.

Background: Recently, a T/C polymorphism in the Kozak sequence of glycoprotein Ib-alpha (GPIb-alpha) gene at position -5 from the initiator ATG codons, has been identified. The presence of -5C allele increases the surface expression of GPIb-IX-V complex in a gene dosage-dependent manner. It has been suggested that higher receptor levels might increase the adhesiveness of the platelets and confer risk for thrombosis.

Measurement of atmospheric deposition of polychlorinated biphenyls and their dry deposition velocities in an urban/industrial site in Turkey.

Dry deposition fluxes and total (gas+particle) concentrations of polychlorinated biphenyls (PCBs) were measured between August 2004 and May 2005. Samples were collected from an urban-industrial site of Bursa, Turkey. A stainless steel pot and a high volume air sampler (HVAS) were employed to collect deposition and ambient air samples, respectively.

Seasonal concentrations and partitioning of PAHs in a suburban site of Bursa, Turkey.

Effects of space heating on atmospheric concentrations and gas-particle partitioning of PAHs were investigated in a suburban site of Bursa, Turkey. The average concentrations of summation operator(15)-PAHs in heating season samples were approximately 10 times higher than those of non-heating season samples. The plot of log K(p) versus log P(L)(0) for all the data set gave significantly different slopes.