Two remarkable cases of haploinsufficiency found in the DYRK1A gene.

Introduction: DYRK1A syndrome, also known as "Intellectual developmental disorder, autosomal dominant 7," is a syndromic intellectual disability characterized by dysmorphic features including deep-set eyes, prominent ears, and retrognathia. Patients have neurodevelopmental problems, ocular anomalies, and multisystem phenotypes. Most cases result from single nucleotide variants causing DYRK1A-haploinsufficiency, while deletions occur in < 15% of cases.

Determining the effect levels of augmented decent work criteria in sustainable economic development with the fuzzy DEMATEL method.

Creating decent work is among the priority issues for sustainable employment and development. This study aimed to determine the effect levels of the International Labour Organization (ILO) decent work criteria by augmenting nine indicators in the ILO manual to 12 criteria through a comprehensive literature review. Fuzzy DEMATEL, a multi-criteria decision-making method, has been preferred in this context.

Non-peripheral octasubstituted zinc(II) phthalocyanines bearing pyridinepropoxy substituents - Antibacterial, anticancer photodynamic and sonodynamic activity.

The novel non-peripheral octa-substituted zinc(II) phthalocyanines with 3- and 4-pyridinepropoxy substituents were synthesized via cyclization of substituted phthalonitriles and further characterized. Their photodynamic and sonodynamic activity were then assessed toward bacteria and cancer cells. Additionally, inhibition activity against common human enzymes was evaluated.

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome was described approximately four decades ago, only a few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of Filippi syndrome with unusual clinical and genetic aspects.

Non-aggregated and water soluble non-peripherally octa substituted Co(II) and Cu(II) phthalocyanines: Synthesis and α-glucosidase inhibitory effects.

Type 2 diabetes (T2DM) is a progressive metabolic disease associated with high blood sugar levels that affects 537 million people worldwide. This study aim is to investigate the potential for use in the treatment of T2DM by examining the in vitro glucosidase inhibitory effects of novel synthesized metallophthalocyanines. For this reason, we have synthesized cobalt(II), copper(II) phthalocyanines (3PY-ON-CoQ, 3PY-ON-CuQ) that are both water-soluble and do not aggregate in water.

Factors Influencing Burnout Syndrome and Depression in Dentists across Various Institutions.

: This study aimed to identify the occupational and personal factors influencing burnout syndrome (BS) and depression among dentists in academic faculties, oral and dental health centres (ODHCs), and private clinics. : This prospective, cross-sectional study was carried out on dentists working in different regions of Turkey. Data were gathered through an online questionnaire hosted on Google Forms.

Turkish Real Life Atrial Fibrillation in Clinical Practice: TRAFFIC Study.

Background: Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia worldwide and is associated with an increased risk of thromboembolism, ischemic stroke, impaired quality of life, and mortality. The latest research that shows the prevalence and incidence of AF patients in Türkiye was the Turkish Adults' Heart Disease and Risk Factors study, which included 3,450 patients and collected data until 2006/07.The Turkish Real Life Atrial Fibrillation in Clinical Practice (TRAFFIC) study is planned to present current prevalence data, reveal the reflection of new treatment and risk approaches in our country, and develop new prediction models in terms of outcomes.

Lower gastrocnemius muscle stiffness, derived from elastography, is an independent factor for falls in older adults.

Background And Aims: It is well known that components of sarcopenia (i.e., decreased muscle strength and mass) are related to falls in older adults.

Genetic Investigations in Turkish Idiopathic Pancreatitis Patients Show Unique Characteristics.

Background/aims: Pancreatitis is one of the leading causes of digestive system-related hospital admissions, and it has a genetic background in a considerable portion of the patients. In this study, we aimed to investigate the genetic risk factors of idiopathic pancreatitis in Turkish patients and the contribution of copy number variations to the pathogenesis.

Materials And Methods: Idiopathic pancreatitis is defined as failure to detect risk factors despite comprehensive clinical assessments.

Developing a Novel Platelet-Rich Plasma-Laden Bioadhesive Hydrogel Contact Lens for the Treatment of Ocular Surface Chemical Injuries.

Permanent injury to corneal limbal stem cells after ocular surface chemical and thermal injuries is a major cause of corneal blindness. In this study, a PRP-laden GelMA hydrogel contact lens is manufactured which is aimed to support the limbal niche after ocular surface insults thereby preventing limbal stem cell failure. GelMA with varying platelet-rich plasma (PRP) concentrations (5%, 10%, and 20%) is photopolymerized using a visible light crosslinking system followed by characterizations of mechanical properties, growth factor release, enzymatic degradation, and in vitro cytotoxicity.

The ameliorative effects of quercetin and curcumin against subacute nephrotoxicity of fipronil induced in Wistar rats.

Fipronil is a phenylpyrazole insecticide that is widely used in agricultural, veterinary, and public health fields for controlling a wide variety of insect species and it is an environmentally potent toxic substance. Curcumin and quercetin, which are well-known natural antioxidants, are widely used to prevent the harmful effects of free radicals on biological systems. The present study aimed to determine the potential ameliorative effects of quercetin and/or curcumin on fipronil-induced nephrotoxicity in rats.

The Bioequivalence Study of Two Dexketoprofen 25 mg Film-Coated Tablet Formulations in Healthy Males Under Fasting Conditions.

Objectives: Dexketoprofen is a non-steroidal analgesic/anti-inflammatory drug and its trometamol salt is extensively preferred in mild or moderate pain due to its rapid onset of relief. A new formulation of 36.9 mg of dexketoprofen trometamol (equivalent to 25 mg dexketoprofen) tablet has been developed and its bioequivalence to the reference product was proven.

Predictive value of oxidative, antioxidative, and inflammatory status for left ventricular systolic recovery after percutaneous coronary intervention for ST-segment elevation myocardial infarction.

Objective: This study aimed to evaluate the association between left ventricular ejection fraction recovery and the total oxidant status, total antioxidant capacity, and high-sensitivity C-reactive protein levels.

Methods: A total of 264 ST-elevation myocardial infarction patients were classified into two groups according to baseline and 6-month follow-up left ventricular systolic function: reduced and recovery systolic function. Predictors of the recovery of left ventricular ejection fraction were determined by multivariate regression analyses.

An Improved Diagnostic Tool to Predict Cartilage Formation in an Osteoarthritic Joint Environment.

Osteoarthritis (OA) is characterized by progressive articular cartilage loss. Due to the chondrogenic potential of human mesenchymal stromal cells (MSCs), MSC-based therapies are promising treatment strategies for cartilage loss. However, the local joint microenvironment has a great impact on the success of cartilage formation by MSCs.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs.

Pyridine substituted BODIPYs: synthesis, characterization and cholinesterease, α-glucosidase inhibitory, DNA hydrolytic cleavage effects.

In this study, the synthesis of new monostyryl () and distyryl BODIPY dyes () containing pyridine groups has been reported for the first time. The acetylcholinesterase from (AChE), butyrylcholinesterase from equine serum (BuChE), α-glucosidase from and DNA hydrolytic cleavage actions of , , were investigated using various techniques. The results indicated that the compounds had varying inhibition properties against AChE, BuChE, and α-glucosidase.

NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.

NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear.

Systemic Immune-Inflammation Index May Predict the Development of Contrast-Induced Nephropathy in Patients With ST-Segment Elevation Myocardial Infarction.

The aim of this study was to investigate the predictive capacity of a systemic immune-inflammation index (SII) in the detection of contrast-induced nephropathy (CIN) following ST-segment elevation myocardial infarction (STEMI). A total of 477 STEMI patients were enrolled in the study. The patients were divided into 2 groups according to CIN development.

Relationship between morning blood pressure surge and the frontal plane QRS-T angle in newly diagnosed hypertensive patients.

Background: Morning blood pressure surge (MBPS) plays an important role in target organ damage and major adverse cardiac events. The frontal QRS-T [f(QRS-T)] angle is the electrocardiographic marker and index of ventricular arrhythmogenic events. We aimed to investigate the relationship between MBPS and the f(QRS-T) angle, which is an indicator of ventricular repolarization disorder, in patients with newly diagnosed HT.

Frequency of frontotemporal dementia-related gene variants in Turkey.

Just as its clinical heterogeneity, genetic basis of Frontotemporal dementia (FTD) is also diverse and multiple molecular pathways are thought to be involved in disease pathogenesis. In the present study, FTD- related genes were evaluated in a Turkish cohort of 175 index FTD patients with a gene panel including GRN, MAPT, TARDBP, FUS, CHMP2B and VCP genes. Potential genetic associations were prospected in 16 patients (9.

The effects of natural mating and artificial insemination on reproductive traits of 1-and 2-year-old domestic Turkish geese.

The aim of this study was to assess the sperm quality traits of 1- and 2-year-old ganders and the reproduction traits of 2-year-old domestic Turkish geese in natural mating (NM) and artificial insemination (AI) conditions. The study comprised 72 two-year-old females, 12 one-year-old, and 12 two-year-old ganders. Thirty-six female geese were mated naturally (18 with 1-year-old ganders, 18 with 2-year-old ganders); the remaining thirty-six were inseminated artificially (18 with 1-year-old ganders, 18 with 2-year-old ganders).

Lead nitrate and cadmium chloride induced hepatotoxicity and nephrotoxicity: Protective effects of sesamol on biochemical indices and pathological changes.

Lead nitrate (LN) and cadmium chloride (CdCl ), regarded as environmental contaminants, are toxic heavy metals. Sesamol is a dietary phytochemical found in sesame oil. We aimed to analyze the hepatotoxic and nephrotoxic effects of LN and CdCl and to evaluate the possible protective effect of sesamol.

The effect of Systolic and diastolic blood pressure on Tp-e interval in patients divided according to World Health Organization classification for body mass index.

: Tp-e interval, Tp-e/QT ratio and Tp-e/QTc ratio are electrocardiographic markers and indices of ventricular arrhythmogenic events. We aimed to investigate ventricular repolarization in normal weight, overweight, obese and morbidly obese individuals by using ECG parameters including the above markers. A total of 310 obese patients with various cardiac complaints, who were admitted to our outpatient clinic between May 2020 and January 2021, were prospectively included in the study.

Elastography and Doppler May Bring a New Perspective to TIRADS, Altering Conventional Ultrasonography Dominance.

Rationale And Objectives: The main aim of ultrasonography (US) examining thyroid nodules is to differentiate malignant nodules from benign nodules. Several professional societies and groups of investigators have defined guidelines such as Thyroid Imaging Reporting and Data System (TIRADS) to provide the standardized language and approach to thyroid nodules. This study is aimed to investigate the compatibility of such classification systems with the pathological diagnosis of nodules and evaluate the contribution of the Shear-wave elastography (SWE) and Doppler ultrasonography (DUS) findings.