Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in .

Deep-intronic (DI) variants represent approximately 10%-12% of disease-causing genetic defects in -associated Stargardt disease (STGD1). Although many of these DI variants are amenable to antisense oligonucleotide-based splicing-modulation therapy, no treatment is currently available. These molecules are mostly variant specific, limiting their applicability to a broader patient population.

Predictive role of systemic immune-inflammation index and neutrophil/lymphocyte ratio values in infants with retinopathy of prematurity.

Purpose: To search the relationship between serum neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), lymphocyte-to-monocyte ratio (LMR), and systemic immune-inflammation index (SII) values with the development of retinopathy of prematurity (ROP) and the requirement for laser treatment.

Methods: This retrospective cohort study was carried out with 195 preterm infants between 2012 and 2023. The NLR, PLR, LMR, and SII values were calculated on both the first day and at the end of the first month after birth.

Amphipathic Cell-Penetrating Peptide-Aided Delivery of Cas9 RNP for In Vitro Gene Editing and Correction.

The therapeutic potential of the CRISPR-Cas9 gene editing system in treating numerous genetic disorders is immense. To fully realize this potential, it is crucial to achieve safe and efficient delivery of CRISPR-Cas9 components into the nuclei of target cells. In this study, we investigated the applicability of the amphipathic cell-penetrating peptide LAH5, previously employed for DNA delivery, in the intracellular delivery of spCas9:sgRNA ribonucleoprotein (RNP) and the RNP/single-stranded homology-directed repair (HDR) template.

Use of serum copper and zinc levels in the diagnostic evaluation of endometrioma and epithelial ovarian carcinoma.

Objective: The aim of this study is to evaluate serum copper (Cu) and zinc (Zn) levels in patients with epithelial ovarian cancer and endometrioma.

Materials And Methods: We included 21 epithelial ovarian cancer patients, 47 endometrioma patients, 31 healthy women of reproductive age, and 10 healthy women in menopause. Cu and Zn levels and Cu/Zn ratios were compared.

[Determination of Whole Genome Sequence and Resistance Genes in Hypermucoviscous Klebsiella pneumoniae with Long-Read Sequencing Technology].

Numerous virulence factors are present in the hypervirulent/hypermucoviscous Klebsiella pneumoniae, which primarily causes community-acquired infections. In recent years, hypervirulent/hypermucoviscous K.pneumoniae has acquired resistance genes and has been linked to healthcare-associated infections.

Borrelia miyamotoi in wild rodents from four different regions of Turkey.

Borrelia miyamotoi is a tick-borne zoonotic agent that causes hard tick-borne relapsing fever, an emerging disease in humans. Some small mammalian and bird species are reported to be reservoirs of B. miyamotoi.

Impact of Formulation Conditions on Lipid Nanoparticle Characteristics and Functional Delivery of CRISPR RNP for Gene Knock-Out and Correction.

The CRISPR-Cas9 system is an emerging therapeutic tool with the potential to correct diverse genetic disorders. However, for gene therapy applications, an efficient delivery vehicle is required, capable of delivering the CRISPR-Cas9 components into the cytosol of the intended target cell population. In this study, we optimized the formulation conditions of lipid nanoparticles (LNP) for delivery of ready-made CRISPR-Cas9 ribonucleic protein (RNP).

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.

Background: The objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey who are treated with galsulfase enzyme replacement therapy (ERT). Clinical data of 14 children with MPS VI who were followed up at the Department of Pediatrics of the Gazi University Faculty of Medicine in Ankara, Turkey were retrospectively collected from the patients' medical records. Patients were selected based on availability of a pre-ERT baseline and follow-up clinical data for a similar period of time (1.

The impact of granulocyte colony-stimulating factor (G-CSF) on thin endometrium of an animal model with rats.

Materials And Methods: After forming of the thin endometrium by uterine injection of 0.2 ml 96% ethyl alcohol to the rats, five days of subcutaneous injections of 40 μg/kg G-CSF or saline were given. Endometrial thickness, immunohistochemically expression of vascular endothelial growth factor receptor-2 (VEGF-R2), proliferative cell nuclear antigen (PCNA) and fibronectin apoptosis with TUNEL method were compared in specimens among four groups of post-model rats.

First molecular detection and identification of species in small wild rodents from Turkey.

Leishmaniasis is a parasitic disease infecting animals and humans. Two clinical forms (Visceral and cutaneous leishmaniasis) and four species are reported to be present in Turkey. Several studies have investigated canine and human leishmaniasis in Turkey but no study was performed to screen the infection among wild rodents, so far.

Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.

Kör D, Şeker-Yılmaz B, Bulut FD, Kılavuz S, Öktem M, Ceylaner S, Yıldızdaş D, Önenli-Mungan N. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. Turk J Pediatr 2019; 61: 330-336.

Molecular Survey of Babesia microti (Aconoidasida: Piroplasmida) in Wild Rodents in Turkey.

Babesia microti (Aconoidasida: Piroplasmida) (Franca, 1910) is an important tick-borne zoonotic parasite with rodents serving as reservoir hosts. In the present study, 536 rodents were captured from Burdur, Bartin, Giresun, and Yozgat provinces of Turkey between the years 2010 and 2012, and blood samples were examined for the presence of Babesia spp. using conventional PCR which targeted the 18S rRNA gene.

The role of silver ions in the regulation of the senescence process in Triticum aestivum.

The control of senescence has economic importance due to its effects on parameters such as herbal product quality and shelf life. This study is on the control of induced senescence in Triticum aestivum L. 'Gün-91' plants with silver nitrate (AgNO3) treatments.

The Effects of Minocycline on the Hippocampus in Lithium- Pilocarpine Induced Status Epilepticus in Rat: Relations with Microglial/Astrocytic Activation and Serum S100B Level.

Aim: To investigate possible correlations between serum S100B levels and microglial/astrocytic activation in status epilepticus (SE) in lithium-pilocarpine-exposed rat hippocampi and whether serum S100B levels linearly reflect neuroinflammation. Additionally, to assess the effects of minocycline (M), an inhibitor of neuroinflammation.

Material And Methods: Rats were divided into 4 groups (6/group), namely, control (C), sham, SE, and SE+M.

Seroprevalence and social determinants of varicella in Turkey.

Background: In Turkey, varicella vaccine was introduced into routine childhood immunization in 2013, with a single dose administered to children aged 12 months. However, there is limited information on the morbidity (incidence and seroprevalence), mortality and burden of disease of varicella in the overall Turkish population.

Aim: To determine varicella seroprevalence and its social determinants in Manisa Province, Turkey in children aged > 2 years before single-dose varicella vaccination was introduced in 2013.

Elevated PAPP-A levels in lean patients with polycystic ovary syndrome.

Objectives: This study aimed to evaluate the serum concentrations of PAPP-A (pregnancy associated placental protein-A), a biomarker which is associated with cardiovascular disease, in patients with polycystic ovary syndrome (PCOS).

Materials And Methods: A total of 62 women with PCOS, and 68 age and body mass index (BMI) matched controls were eligible for the study. Hirsutism scores, hormonal and metabolic profile as well as PAPP-A levels were assessed in each subject.

The effects of resveratrol on ovarian hyperstimulation syndrome in a rat model.

Objective: The aim of the present study was to investigate effects of resveratrol (RSV) over ovarian hyperstimulation syndrome (OHSS) in rat model.

Materials And Methods: 24 female Wistar rats (22 days old) were divided into four groups. Group 1 (control group; n = 6) received 0.

The effect of swim-up and gradient sperm preparation techniques on deoxyribonucleic acid (DNA) fragmentation in subfertile patients.

Purpose: To compare the effect of two different sperm preparation techniques, including swim-up and gradient methods on sperm deoxyribonucleic acid (DNA) fragmentation status of semen samples from unexplained and mild male factor subfertile patients undergoing intrauterine insemination (IUI).

Design: A prospective randomized study was conducted in 65 subfertile patients, including 34 unexplained and 31 male factor infertility to compare basal and post-procedure DNA fragmentation rates in swim-up and gradient techniques. Sperm DNA fragmentation rates were evaluated by a sperm chromatin dispersion (SCD) test in two portions of each sample of semen that was prepared with either swim-up or gradient techniques.

Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.

Background: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008.

Methods: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity.

The Impact of laparoscopic surgery of peritoneal endometriosis and endometrioma on the outcome of ICSI cycles.

Our objective was to assess the role of laparoscopic removal of ovarian endometriomas and ablation of peritoneal endometriosis on the outcome of intracytoplasmic sperm injection (ICSI) - Embryo Transfer cycles by comparing with the results of patients with untreated endometriomas and tubal factor without underlying endometriosis confirmed by laparoscopy. For this purpose, between 2002 and 2015, outcomes of 257 ICSI cycles of 150 patients, including 91 cycles of 48 patients in minimal endometriosis, 57 cycles of 25 patients in endometrioma removal, 65 cycles of 53 patients in non-operated endometrioma, and 44 cycles of 24 patients in tubal factor groups were retrospectively analyzed. Basal ovarian reserve was significantly lower, mean starting and total gonadotropin consumption was significantly higher, and mean serum E2 on the day of hCG injection, number of dominant follicles, number of retrieved total, and MII oocytes were all significantly lower in the endometrioma cystectomy group.

Association between seroprevalence of measles and various social determinants in the year following a measles outbreak in Turkey.

Objectives: Despite an ongoing measles elimination programme, a measles outbreak occurred in 2013 in Turkey. Population-based seroprevalence studies are needed to determine seronegativity and explore the reasons for this outbreak. This study aimed to explore the seroprevalence of measles and its association with various social determinants in a provincial population in Turkey in the year following a measles outbreak.

Acquired FVIII and FIX Inhibitors after Pregnancy: A Case Report.

Acquired hemophilia is a relatively rare clinical presentation, and most cases present with acquired FVIII inhibitor. The co-occurrence of inhibitors to multiple coagulation factors is uncommon. These autoantibodies may induce spontaneous life-threatening bleeding in patients who have had no previous bleeding disorder.

Comparison of age-related changes in anti-Müllerian hormone levels and other ovarian reserve tests between healthy fertile and infertile population.

In this study, we aimed to determine whether anti-Müllerian hormone (AMH) levels vary between fertile and infertile populations and compare them with basal follicle-stimulating hormone (FSH) levels and antral follicle count (AFC). This was a prospective study that included 177 primarily infertile patients who underwent IVF treatment and 162 healthy fertile patients admitted to our clinic for benign diseases. FSH and AMH levels and the AFC of the infertile and fertile populations were compared between the age categories <30, 30-39 and ≥40.

Canine Infections and Partial S Segment Sequence Analysis of Toscana Virus in Turkey.

Introduction: Toscana virus (TOSV) is a sandfly-borne bunyavirus with a significant public health impact. Preliminary studies have revealed TOSV exposure in dogs and they were suggested as potential reservoirs. This study was performed to characterize canine TOSV infections in an endemic region.