A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a case with congenital ichthyosis with atopy presenting later. We wanted to discuss the importance of whole exome sequencing to diagnose the atypical presentations of common syndromes

Pregnancy and Vaginal Delivery after Sacrohysteropexy

Pregnancy and birth after a Pelvic Organ Prolapse (POP) surgery is a rare condition and less is known about the method for delivery. A 31-year-old women with gravida 3 para 3 underwent abdominal sacrohysteropexy and transobturatuar tape (TOT) procedures for stage III prolapse who delivered via vaginal birth and showed no relapse. Sacrohysteropexy is a good option for women with POP who desire fertility with a long term follow-up period

The effect of RAAS inhibitors on acute hypoxemic respiratory failure and in-hospital mortality in the hypertensive Covid-19 patients

Introduction We have aimed to investigate the relationship between use of angiotensin-converting-enzyme inhibitor (ACEI) or angiotensin-receptor-blocker (ARB) drugs and acute hypoxemic respiratory failure (AHRF) and in-hospital mortality in hypertensive Covid-19 patients. Material and method Consecutive 1345 patients diagnosed with Covid-19 between April and October 2020 who met inclusion criteria were divided into two groups based on presence and absence of AHRF and mortality. The groups were compared regarding epidemiological, clinical, radiological, laboratory findings and treatments methods. The patient groups ACEI, ARB and other antihypertensive drugs (non-ACEI/ARB) were compared regarding same parameters. Results Median age was 68 (60–76) years in the patient group including 805 (59.9.1%) females. Of the patients, 475 (35.3%), 644 (47.9%) and 226 (16.8%) were using ACEIs, ARBs and non-ACEI/ARB, respectively. AHRF and in-hospital mortality developed in 1053 (78.3%) and 290 (21.6%) patients, respectively. Age, gender, coronary artery disease, diabetes mellitus (DM), neutrophil, lymphocyte, creatinine, D-dimer, C-reactive protein (CRP), ACEI, beta blocker and aspartate transaminase (AST) found statistically significant in the univariable logistic regression performed to identify independent predictors of mortality were included multivariable logistic regression model. Age (OR: 1.066, 95%CI: 1.049–1.083; p < .001), DM (OR: 1.682, 95%CI: 1.238–2.286; p = .001), neutrophil (OR: 1.041, 95%CI: 1.007–1.077; p = .019), creatinine (OR: 1.178, 95%CI: 1.048–1.325; p = .006), CRP (OR: 1.008, 95%CI: 1.006–1.010; p < .001), ACEI (OR: 0.718, 95%CI: 0.521–0.988; p = .042), AST (OR: 1.005, 95%CI: 1.001–1.010; p = .010) were found associated with in-hospital mortality. Conclusion In our study, it was not detected clinically significant difference between three groups with regard to their relation with in-hospital mortality

Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey

Background A better understanding of cystic fibrosis transmembrane conductance regulator biology has led to the development of modulator drugs such as ivacaftor, lumacaftor-ivacaftor, tezacaftor-ivacaftor, and elexacaftor-tezacaftor-ivacaftor. This cross-sectional study evaluated cystic fibrosis (CF) patients eligible for modulator drugs

Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?

Background: Cystic fibrosis (CF) is an autosomal recessive disorder caused by CF transmembrane conductance regulator (CFTR) genetic variants. CFTR modulators improve pulmonary function and reduce respiratory infections in CF. This study investigated the clinical and laboratory follow-up parameters over 1 year in patients with CF who could not receive this treatment. Methods: This retrospective cohort study included 2018 and 2019 CF patient data from the CF registry of Turkey. Demographic and clinical characteristics of 294 patients were assessed, who had modulator treatment indications in 2018 but could not reach the treatment. Results: In 2019, patients younger than 18 years had significantly lower BMI z-scores than in 2018. During the 1-year follow-up, forced expiratory volumes (FEV1) and FEV1 z-scores a trend toward a decrease. In 2019, chronic Staphylococcus aureus colonization, inhaled antipseudomonal antibiotic use for more than 3 months, oral nutritional supplement requirements, and oxygen support need increased. Conclusions: Patients who had indications for modulator treatments but were unable to obtain them worsened even after a year of follow-up. This study emphasized the importance of using modulator treatments for patients with CF in our country, as well as in many countries worldwide