Treatment and follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (CYP21A2). 21 hydroxylase deficiency has been divided into classical and non-classical forms.

Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21OHD) caused by mutations in CYP21A2. Although 21OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype.

Milk ladder: Who? When? How? Where? with the lowest risk of reaction.

The milk ladder (ML) approach, which is the gradual reintroduction of the milk allergen from the least allergenic forms to the most allergenic forms into the diet of the patients, has been utilized mostly in non-IgE-mediated but in some countries also in IgE-mediated-CMPA due to its possible benefits which include nutrition, quality of life and tolerance induction. Despite increasing interest, so far, there is no guideline on ML; thus, the use of this approach shows discrepancies among healthcare professionals as many factors such as dietary habits, patient history, test results, workload, and facilities of the hospitals, the anxiety of the parents/patients may affect the decision on how, when, where and whom to use ML. Here, we reviewed current data on implementing the ML, suggested a 4-step ML including receipts and amounts, and shared our experience on optimal patient selection, appropriate time and steps for initiating ML, and time intervals between the steps targeting the lowest risk of reaction.

Comparison of Friedewald, Martin/Hopkins, and Sampson formulae with direct LDL measurement in hyperlipidaemic and normolipidaemic adults in a Turkish population.

Methods: The study was a retrospective investigation by the Department of Medical Biochemistry of the Ankara Training and Research Hospital between January 1, 2021, and December 31, 2022. Our study evaluated the results of 6297 patients aged 18-95 years who underwent cholesterol panel TC, TG, HDL-C, and direct LDL-C in our laboratory. The estimated LDL-C was calculated according to Friedewald, Martin/Hopkins, and Sampson formulae.

What is the role of alpha-1 antitrypsin in the management of acute graft versus host disease?

Objective: Acute graft versus host disease (GVHD) occurs in 20-80 % of patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT). Of these patients, 40 % will be resistant to steroids, which is the standard first-line approach. There is no standard second line treatment approach for patients with steroid refractory acute GVHD (SR-aGVHD).

Is there a relationship between vitamin D levels and graft versus host disease?

Objective: Vitamin D deficiency is common in adult patients undergoing allogenic hematopoietic stem cell transplantation (allo-HSCT). Since vitamin D is an important regulatory factor for the immune system, vitamin D deficiency may have effects on antitumor activity, relapse rates, graft versus host disease (GVHD) occurrence and infection rates in allo-HSCT. We aimed to investigate the effects of vitamin D levels on the outcome of allo-HSCT.

Treatment Patterns and Attrition in Metastatic Renal Cell Carcinoma: Real-Life Experience from the Turkish Oncology Group Kidney Cancer Consortium (TKCC) Database.

Introduction: Despite the rapid evolution in management of metastatic renal cell carcinoma (mRCC) over the past decade, challenges remain in accessing new therapies in some parts of the world. Despite therapeutic advancements, attrition rates remain persistently high. This study aims to assess the treatment patterns and attrition rates of patients with mRCC in oncology clinics across Turkey.

Efficacy of Ruxolitinib in the management of chronic GVHD.

Objectives: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a potentially curative treatment for hematological diseases, with success rates improving due to advancements in conditioning regimens and new anti-graft versus host disease (GVHD) drugs. Ruxolitinib, an oral selective Janus kinase (JAK) 1 and 2 inhibitor has been used to mitigate the effects of various inflammatory and myeloproliferative syndromes, given the JAK kinase pathway's central role in cytokine signaling during inflammatory and immune processes. In this study we aimed to assess ruxolitinib's efficacy in patients with chronic GVHD (cGVHD).

The effects of microsurgical varicocelectomy performed for infertility on premature ejaculation.

Purpose: To investigate the effects of varicocelectomy on premature ejaculation (PE) in patients with varicocele and infertility.

Methods: A total of 82 sexually active patients aged 18 years or over who had undergone microscopic subinguinal varicocelectomy with a clinical diagnosis of varicocele in 14 urology clinics between October 2021 and March 2023 with primary infertility were evaluated prospectively Patients were evaluated using the Turkish validated form of the 'Premature Ejaculation Diagnostic Tool' (PEDT) scale. A PEDT score of 11 or above was taken to indicate the presence of PE.

Effectiveness of comprehensive approach in rejuvenating the aging lower periorbita.

Purpose: To investigate the efficacy of a comprehensive surgical approach for rejuvenation of the aging lower periorbita.

Methods: Between February 2018 and January 2023, 80 eyes of 40 patients with lower lid dermatochalasis (LLD), lower lid laxity (LLL) or orbicularis laxity of the lower lid (OL) admitted to the oculoplastic surgery department of our clinic were included in the study. 18 eyes had LLD, 14 eyes had LLL, 18 eyes had LLD and LLL, and 30 eyes had LLD, LLL and OL.

Evaluation of HOTAIR, HOXD8, HOXD9, HOXD11 gene expression levels in Turkish patients with acute and chronic myeloid leukemia: A single center experience.

Homeobox (HOX) transcript antisense RNA (HOTAIR) and HOX genes are reported to be more expressed in various cancers in humans in recent studies. The role of HOTAIR and HOXD genes in acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) is not well known. In this study, expression levels of HOXD8, HOXD9 and HOXD11 from HOXD gene family and HOTAIR were determined from peripheral blood samples of 30 AML and 30 CML patients and 20 healthy volunteers by quantitative Real Time PCR.

Surgery for patients with endometrioid-type endometrial cancer: is lymphadenectomy above the inferior mesenteric artery necessary?

Objective: The primary objective of this study was to identify the risk of metastasis to lymph nodes above the inferior mesenteric artery (IMA) in endometrioid-type endometrial cancer (EC) and the factors that influence metastasis.

Methods: The study included patients who had been operated on for endometrioid-type EC in three gynecological oncology centers between 2007 and 2023. The supramesenteric lymph node (SM-LN) is the region between the left renal vein and the IMA, whereas the inframesenteric lymph node (IM-LN) is the region between the IMA and the aortic bifurcation, as determined by the level of the IMA.

The effect of disopyramide therapy on functional capacity improvement in patients with obstructive hypertrophic cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular outflow tract obstruction (LVOTO), leading to symptoms and adverse outcomes. Disopyramide, with its negative inotropic effects, is commonly used to reduce LVOTO in obstructive HCM (HOCM). This study evaluates the impact of disopyramide on functional capacity in HOCM patients.

Effectiveness of ibrutinib in the management of chronic GVHD.

Objectives: Chronic graft-versus-host disease (cGVHD) represents a significant adverse event that may ensue following allogeneic hematopoietic stem cell transplantation (Allo-HSCT). In patients resistant to corticosteroids, which is the first-line treatment for cGVHD, ibrutinib is being evaluated as a potential treatment option. In this study, we aimed to share the findings of our multicenter study regarding the outcomes of ibrutinib treatment in patients with corticosteroid-resistant cGVHD who had previously received multiple systemic therapies.

Valency of cystatin C and creatinine on troponin values in chronic kidney disease patients with chest pain in emergency department.

Objective: Chronic kidney disease (CKD) patients with chest pain (CP) should receive special attention in the emergency department (ED). Evaluating troponin levels is highly confusing. This study aims to compare Cystatin C (CysC) and creatinine on troponin results in CKD patients with CP in ED.

PCR-based characterization of nasal and ocular surface flora and functional analysis of bacterial metabolic pathways in congenital nasolacrimal duct obstruction.

Purpose: To evaluate the role of Streptococcus pneumoniae, Staphylococcus aureus, Haemophilus influenzae, Serratia marcescens, and Moraxella catarrhalis in the nasal and ocular surface flora, along with their metabolic activities in children with unilateral congenital nasolacrimal duct obstruction (CNLDO).

Methods: Swabs were taken from the bilateral inferior meatus and ocular surface of 26 children with unilateral CNLDO before probing. Nasal and ocular surface swabs from non-operated eyes of children who underwent unilateral blepharoptosis or strabismus surgery formed the control group.

Association between timing of maternal energy consumption and adiposity in breastfeeding infants: A prospective cohort study.

Background: Lactating women's food intake timing may play a critical role in maternal and infant nutrition health. We aimed to examine associations of breastfeeding mothers' diet quantity and circadian timing of food intake with subsequent weight status of exclusively breastfed infants over a 6-month period.

Methods: This prospective observational study comprised pairs of healthy singleton breastfed infants and their corresponding healthy lactating mothers.

Investigation of caregiver burden, quality of life, and occupational performance of primary caregivers of individuals having experienced a stroke with and without aphasia.

Background: Individuals having experienced a stroke need the help of an individual to perform their activities of daily living. Therefore, the disease affects not only patients but also their caregivers.

Objectives: This study aimed to investigate how aphasia affects caregivers' burden of care, quality of life, and occupational performance.

What should be the optimal dose of post-transplantation cyclophosphamide for GVHD prophylaxis in allogeneic stem cell transplantation?

Objectives: In this study, we aimed to compare the engraftment days, graft versus host disease (GVHD) development, relapse and overall survival (OS) rates in patients using variable intensity conditioning regimens with two different post-transplant cyclophosphamide (PTCy) doses for hematological malignancies.

Material And Methods: We retrospectively analyzed 162 patients who have had PTCy at a dose of 25 mg/kg × 2 and 50 mg/kg × 2 between 2018 and 2024. Patients were divided in 2 groups; PTCy dose with 25 mg/kg × 2 (Group 1, n = 45) and PTCy dose with 50 mg/kg × 2 (Group 2, n = 117).

Citrate Anticoagulation in Continuous Renal Replacement Therapy: Multicenter PICU Study of Filter-Related Outcomes.

Objectives: To examine citrate anticoagulation in continuous renal replacement therapy (CRRT) in the PICU.

Design: Post hoc analysis of a curated, multicenter dataset collected from January 1, 2022, to June 1, 2023.

Setting: Seven PICUs in Turkey.

Definition of sinonasal and otological exacerbation in patients with primary ciliary dyskinesia: an expert consensus.

Background: Recurrent infections of the nose, sinuses and ears are common problems for people with primary ciliary dyskinesia. While pulmonary exacerbations in primary ciliary dyskinesia are defined, there is no definition for ear-nose-throat exacerbations, a potential outcome for research and clinical trials.

Methods: We set up an expert panel of 24 ear-nose-throat specialists, respiratory physicians, other healthcare professionals and patients to develop consensus definitions of sinonasal and otological exacerbations in children and adults with primary ciliary dyskinesia for research settings.

Does microperimetry have a role in monitoring visual function in patients with Behçet uveitis?

Background: To evaluate the change in time in visual acuity, central macular thickness (CMT), and microperimetry (MP) findings in Behçet uveitis (BU) patients who were in remission with maintenance therapy.

Methods: This single center, retrospective, observational cohort study included twenty-five eyes of 25 patients with BU who were in remission during maintenance therapy. Best corrected visual acuity (BCVA), CMT, macular integrity index, average threshold, and fixation stabilities (P1 and P2) evaluated at six-month intervals were recorded.