DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.

Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) and are recently linked to combined immunodeficiency. However, the extent of defects in T and innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized the primary T, natural killer (NK) and helper ILCs of six patients carrying two novel loss of function mutation in DIAPH1 and Jurkat cells after DIAPH1 knockdown.

Elderly and aged asthma have different characteristics: results of a multicenter study.

Background/aim: Characteristics of asthma in the elderly population is not well-known. The aim of the present study was to evaluate asthma in the elderly population, to compare disease characteristics between patients diagnosed <60 (aged asthma) and ≥60 (elderly asthma) years of age.

Materials And Methods: The study was a prospective, multicenter, cross-sectional type.

Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators.

Introduction: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs.

Expression of circulating oar-miR-485-5p and oar-miR-493-5p during the estrous cycle and early pregnancy in ovine plasma.

In the current study, we aimed to assess the expression levels of two circulating microRNAs (miRNA) (oar-miR-485-5p and oar-miR-493-5p) in the ovine plasma during the peri-implantation. After mating, we collected the plasma samples from a total of 8 ewes on day 22 of pregnancy (P22; n = 4) and day 22 of the estrous cycle (C22; n=4). We used mature miRNA sequences for oar-miR-485-5p and oar-miR-493-5p out of one hundred fifty, which were retrieved from our microarray results of previous study.

Altered luteal expression patterns of genomic and non-genomic progesterone receptors in bitches at different reproductive states.

The binding of steroid hormones to their specific receptors is necessary to exert their effects on target cells. Progesterone (P), a steroid hormone, carries out its effects through both genomic and non-genomic (the cell membrane-associated) receptors. This study aimed to ascertain luteal expression patterns of genomic and non-genomic progesterone receptors in bitches in physiological (early dioestrus and early pregnant) and pathological (pyometra) reproductive states.

Effect of Pre-exercise Sodium Citrate Ingestion on Repeated Sprint Performance in Soccer Players.

Kuru, D, Aktitiz, S, Atakan, MM, Köse, MG, Turnagöl, HH, and Koşar, ŞN. Effect of pre-exercise sodium citrate ingestion on repeated sprint performance in soccer players. J Strength Cond Res 38(3): 556-562, 2024-This study aimed to test the hypothesis that sodium citrate (CIT) administered 180 minutes before exercise improves repeated sprint performance in athletes within a field-based setting.

Childhood interstitial lung disease in Turkey: first data from the national registry.

The childhood interstitial lung diseases (chILD) Turkey registry (chILD-TR) was established in November 2021 to increase awareness of disease, and in collaboration with the centers to improve the diagnostic and treatment standards. Here, the first results of the chILD registry system were presented. In this prospective cohort study, data were collected using a data-entry software system.

Neutrophil lymphocyte ratio, mean platelet volume, and immunoreactive trypsinogen as early inflammatory biomarkers for cystic fibrosis in infancy: A retrospective cohort study.

Background: Airway inflammation starts in early life in cystic fibrosis (CF) and limited, objective markers are available to help identify infants with increased inflammation. We aimed to investigate neutrophil, lymphocyte ratio (NLR), mean platelet volume (MPV) and immunoreactive trypsinogen (IRT) to be a possible inflammatory biomarker for CF in infancy.

Methods: This was a retrospective cohort study in three centers.

The Effect of Different Luteal Phase Support Applications on Clinical Pregnancy Outcomes in Frozen-Thawed Embryo Transfer.

Purpose: During the frozen-thawed embryo transfer (FET) method, controlled ovarian hyperstimulation is used. At the same time, progesterone support is given for luteal phase support. In this study, we investigated the effects of various luteal phase support agents administered orally, intramuscularly (IM), and vaginally during FET on pregnancy rates.

The 2D and 3D MR arthrographic description of aponeurotic expansion of supraspinatus tendon and biceps tendon anomaly in a large patient cohort.

Objective: To describe the aponeurotic expansion of supraspinatus tendon (AEST) and biceps tendon abnormalities with magnetic resonance (MR) arthrographic examinations and determine their prevalence in patients, we performed a high-resolution 3D direct MR arthrography.

Materials And Methods: This was a retrospective study of 700 shoulder MR arthrograms performed between May 2010 and January 2022. Extension in the coronal plane of an AEST on 3D fat-suppressed T1-weighted volumetric interpolated breath-hold examination (VIBE) MR arthrography was identified.

Childhood sarcoidosis in the middle Anatolia of Turkey.

Objective: This retrospective study aimed to describe the clinical and radiological features, diagnostic methods, laboratory findings, organ involvement, and treatment strategies of 22 patients who followed up with late-onset childhood sarcoidosis and compare them with the literature.

Material And Method: This retrospective multicenter study reviewed the medical records of 22 children with sarcoidosis who applied to the Pediatric pulmonology department of Erciyes University Faculty of Medicine and Necmettin Erbakan Faculty of Medicine in 2012 and 2022.

Results: The mean age of the patients at the time of diagnosis was 13.

Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data.

Background: We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV₁) decline and LT candidates without rapid FEV₁ decline in the last year to identify a preventable cause in patients with such rapid FEV₁ decline.

Methods: All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV₁ below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV₁ decline of more than 20% in the previous year but had other indications for LT (Group 2).

Detection of the glenoid bare spot by non-arthrographic MR imaging, conventional MR arthrography, and 3D high-resolution T1-weighted VIBE MR arthrography: comparison with CT arthrography.

Objectives: To determine the diagnostic accuracy of non-arthrographic MR imaging, conventional MR arthrography, and 3D T1-weighted volumetric interpolated breath-hold examination (VIBE) MR arthrography sequences as compared with a CT arthrography in the diagnosis of glenoid bare spot.

Methods: A retrospective study of 216 patients who underwent non-arthrographic MR imaging, conventional MR arthrography, VIBE MRI arthrography, and CT arthrogram between January 2011 and March 2022 was conducted. The diagnostic accuracy of non-arthrographic MR imaging, direct MR arthrography, and VIBE MRI arthrography in the detection of glenoid bare spot was compared with that of CT arthrography.

Immature Teratoma with Growing Teratoma Syndrome and Gliomatosis Peritonei Coexistence.

Ovarian germ cell tumours constitute 5% of all ovarian cancers. During the natural course and treatment of these tumours , there may be more unusual cases. One of them is gliomatosis peritonei, which is characterised by the spread of glial cells on the peritoneal surfaces, while the other one is growing teratoma syndrome characterised by the rapid growth of benign component and loss or shrinkage of the malignant component in response to systemic chemotherapy during the treatment of germ cell tumours.

Evaluation of specificity and sensitivity of IRT/IRT protocol in the cystic fibrosis newborn screening program: 6-year experience of three tertiary centers.

We aimed to evaluate cutoff values of immunoreactive trypsinogen (IRT)/IRT and determine relationship between IRT values and clinical characteristics of children with cystic fibrosis (CF). This study is cross-sectional study. Data of children with positive newborn screening (NBS) between 2015 and 2021 were evaluated in three pediatric pulmonology centers.

Pulmonary Embolism in Childhood: A Multicenter Experience from Turkey.

Background: Pulmonary embolism is a clinical condition caused by the obstruction of the pulmonary artery and its branches with endogenous, exogenous embolism, or local thrombus formation. It is a rare but potentially life-threatening event in the pediatric population. Pediatric pulmonary embolism has many unknown characteristics.