Implementation of stethoscope disinfection: an observational study on nursing staff practice and knowledge.

Background: Healthcare-associated infections cause high mortality and morbidity, and lack of stethoscope disinfection is one of the reasons for healthcare-associated infections. Nurses who frequently use stethoscopes in the clinic do not disinfect stethoscopes at high rates. This study aimed to identify the frequency of stethoscope disinfection by nurses and their knowledge about the same.

The effect of music on comfort, pain, and anxiety in patients with bone marrow aspiration and biopsy in Turkey: a mixed-methods study.

Aim: This study was conducted to determine the effect of music on the pain, anxiety, and comfort levels of patients who underwent bone marrow aspiration and biopsy.

Methods: This study was conducted on patients with hematological malignancies. Music was used with the intervention group.

Investigation of antifungal susceptibility of Aspergillus species isolated from systemic clinical specimens by different methods.

Purpose: Due to the potential for Aspergillus species to cause lethal infections and the rising rates of antifungal resistance, the significance of antifungal susceptibility tests has increased. We aimed to assess the sensitivities of Aspergillus species to amphotericin B (AMB), voriconazole (VOR), itraconazole (ITZ), and caspofungin (CAS) using disk diffusion (DD) and gradient diffusion (GD) methods and compare them with broth microdilution (BMD) as the reference susceptibility method.

Methods: The study involved 62 Aspergillus fumigatus, 28 Aspergillus flavus, and 16 Aspergillus terreus isolates, totaling 106 Aspergillus isolates.

The Effect of Video Streaming With Virtual Reality on Anxiety and Pain During Bone Marrow Aspiration and Biopsy Procedure.

Background: Pain and anxiety are among the most common symptoms in patients undergoing invasive procedures. Increased pain levels tend to worsen anxiety, and anxiety often leads to more frequent or severe pain.

Aims: The study was conducted to determine the efficacy of virtual reality goggles (VRG) on pain and anxiety during bone marrow aspiration and biopsy (BMAB) procedure.

A Retrospective Analysis of Transfusion Reactions at a Tertiary Care Center: An Institutional Hemovigilance Study.

Background: The goal of our study was to determine the frequency and type of transfusion reactions (TRs) as well as other hemovigilance activities reported at a tertiary care hospital in Turkey over a period of 3 years.

Method: In this retrospective study, the notification sheets of TRs reported to the institution's local hemovigilance system between December 2017 and December 2020 were analyzed.

Results: A total of 89,187 units of blood components were administered to patients during this period.

Hemolytic uremic syndrome and IgA nephropathy in a child: Coincidence or not?

Sürmeli-Döven S, Delibaş A, Gürses İ, Kayacan UR, Coşkun-Yılmaz B, Esen K, Korkmaz E, Özaltın F. Hemolytic uremic syndrome and IgA nephropathy in a child: Coincidence or not? Turk J Pediatr 2018; 60: 81-85. A previously healthy 18-month old boy, presenting with diarrhea, anemia, thrombocytopenia and acute renal failure was admitted to our hospital.

Atypical Hemolytic Uremic Syndrome in Children Aged <2 Years.

Background: There are limited data on infants with atypical hemolytic uremic syndrome (aHUS). The aim of this study was to determine the clinical and laboratory features, and to evaluate treatment modalities and outcomes in infants with aHUS.

Materials And Methods: Relevant data on patients with onset of aHUS at age <2 years were obtained from the Turkish Pediatric aHUS Registry.

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome.

Comparative Ultrastructural and Stereological Analyses of Unruptured and Ruptured Saccular Intracranial Aneurysms.

Insight into processes leading to rupture of intracranial aneurysms (IAs) may identify biomarkers for rupture or lead to management strategies reducing the risk of rupture. We characterized and quantified (ultra)structural differences between unruptured and ruptured aneurysmal walls. Six unruptured and 6 ruptured IA fundi were resected after microsurgical clipping and analyzed by correlative light microscopy for quantitative analysis (proportion of the vessel wall area) and transmission electron microscopy for qualitative ultrastructural analysis.

The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.

Background And Objectives: Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been identified in multiple populations. Our study aimed to identify the clinical characteristics and spectrum of cystinosis gene mutations in Turkish pediatric patients with cystinosis.

Design, Setting, Participants, & Measurements: We identified the clinical characteristics and spectrum of cystinosis gene mutations in Turkish patients with cystinosis in a multicenter registry that was established for data collection.

Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.

Background: Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6β4 integrin. EB-PA can also occur with aplasia cutis.

Case Report: We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c.

Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment.

Background: ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration.

Methods: A total of 146 index patients aged 10-18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation.

Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.

Background: Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant morbidity and mortality. Its genetic heterogeneity impacts its clinical presentation, progress, and outcome, and there is no consensus on its clinical management.

Methods: To identify the characteristics of aHUS in Turkish children, an industry-independent registry was established for data collection that includes both retrospective and prospective patients.

First-Line, Early and Long-Term Eculizumab Therapy in Atypical Hemolytic Uremic Syndrome: A Case Series in Pediatric Patients.

Introduction: Studies relating to first-line, early, and long-term eculizumab treatment and outcomes in children with atypical hemolytic uremic syndrome (aHUS) are scarce and unclear. The aim of this case-series study was to evaluate the outcomes of first-line, early, and long-term eculizumab treatment in our aHUS patients.

Materials And Methods: We reviewed the data from four pediatric patients with aHUS who were treated with eculizumab.

Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease.

Aim: Familial Mediterranean fever (FMF) results from MEFV gene mutations. E148Q is a variant of unknown significance in MEFV. We aimed to define characteristics of FMF patients homozygous for E148Q, check for other MEFV variants in a subgroup, and compare the characteristics with FMF patients carrying other mutations.

RNA Sequencing Analysis of Intracranial Aneurysm Walls Reveals Involvement of Lysosomes and Immunoglobulins in Rupture.

Background And Purpose: Analyzing genes involved in development and rupture of intracranial aneurysms can enhance knowledge about the pathogenesis of aneurysms, and identify new treatment strategies. We compared gene expression between ruptured and unruptured aneurysms and control intracranial arteries.

Methods: We determined expression levels with RNA sequencing.

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.

Hereditary defects of coenzyme Q10 biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.

Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.

Background: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) are caused primarily by mutations in genes that encode structural and regulatory proteins of the glomerular filtration barrier. The aim of this study was to determine genotype-phenotype correlations and prognosis in patients with CNS and INS.

Methods: NPHS1, NPHS2, LAMB2 and the eighth and ninth exons of WT1 were sequenced in 80 and 22 patients with CNS and INS, respectively.

Visualization of the aneurysm wall: a 7.0-tesla magnetic resonance imaging study.

Background: Risk prediction of rupture of intracranial aneurysms is poor and is based mainly on lumen characteristics. However, characteristics of the aneurysm wall may be more informative predictors. The limited resolution of currently available imaging techniques and the thin aneurysm wall make imaging of wall thickness challenging.

Mutations in EMP2 cause childhood-onset nephrotic syndrome.

Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative treatment is available. To date, mutations in more than 24 genes have been described in Mendelian forms of SRNS; however, no Mendelian form of SSNS has been described.

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.

Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in <50% of patients. We performed genome-wide analysis followed by targeted resequencing in a Turkish consanguineous multiplex family and identified a canonic splice site mutation in ANKS6 associated with an NPHP-like phenotype. Furthermore, we identified four additional ANKS6 variants in a cohort of 56 unrelated patients diagnosed with CKD due to nephronophthisis, chronic GN, interstitial nephritis, or unknown etiology.

A novel CFHR5 mutation associated with C3 glomerulonephritis in a Turkish girl.

C3 glomerulopathy defines a subgroup of membranoproliferative glomerulonephritis (MPGN) characterized by complement 3 (C3)-positive, immunoglobulin-negative deposits in immunofluorescence microscopy. It comprises 3 clinical conditions: dense deposit disease, C3 glomerulonephritis, and complement factor H-related 5 (CFHR5) nephropathy. Mutations in genes encoding regulatory proteins of the alternative complement pathway have been described.

Gold nanocrystal labeling allows low-density lipoprotein imaging from the subcellular to macroscopic level.

Low-density lipoprotein (LDL) plays a critical role in cholesterol transport and is closely linked to the progression of several diseases. This motivates the development of methods to study LDL behavior from the microscopic to whole-body level. We have developed an approach to efficiently load LDL with a range of diagnostically active nanocrystals or hydrophobic agents.

DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.

Renal microangiopathies and membranoproliferative GN (MPGN) can manifest similar clinical presentations and histology, suggesting the possibility of a common underlying mechanism in some cases. Here, we performed homozygosity mapping and whole exome sequencing in a Turkish consanguineous family and identified DGKE gene variants as the cause of a membranoproliferative-like glomerular microangiopathy. Furthermore, we identified two additional DGKE variants in a cohort of 142 unrelated patients diagnosed with membranoproliferative GN.

Neonatal onset atypical hemolytic uremic syndrome successfully treated with eculizumab.

Background: Atypical hemolytic uremic syndrome (aHUS) is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Neonatal cases are extremely uncommon. Plasma therapy is the first choice therapy in patients with aHUS based on the belief of an underlying complement dysregulation.