ALTERNATIVE LIGHTWEIGHT COMPOSITE FACING MEMBERS FOR REINFORCED SOILS

Steel reinforced concrete facing members, which are used to fix geosynthetic reinforcements working against tensile forces inside soils and to resist active lateral earth pressures, have certain disadvantages, such as massiveness and corrosion. In addition, the aforementioned conventional panels are not economical since they frequently require maintenance and repair in terms of long term stability. In this study, the utility of alternative composite panels is evaluated with the various arrangement and type of fiber reinforcements and a typical foam concrete. Panel tests and three point bending tests are realized to determine the experimental behavior of steel, carbon fiber (CFRP) and glass fiber reinforced (GFRP) specimens, as well as unreinforced examples. Although CFRP wrapped specimens cannot reach expected levels, samples with GFRP present favorable performance as well as being cheaper. Specimens with mat GFRP enhance both strength and deformation capacities according to the results of axial and lateral deformations under diagonal loading condition. In addition, chopped GFRP applied foam concrete specimens have more strength in terms of bending test results, but CFRP reinforcements increase their displacement capacity

Konjenital ve Infantil Nefrotik Sendromlu Hastalarda Genotip-Fenotip İlişkisinin Değerlendirilmesi

Nephrotic syndrome which is characterised with proteinuria, hypoalbuminemia, hyperlipidemia and edema is a lethal disease especially in the first year of life (congenital and infantile nephrotic syndrome). The mutations in genes coding structural and regulatory proteins of glomerular filtration barrier are the main causes of congenital and infantile nephrotic syndrome. This study aims to investigate the frequency of the genes responsible from nephrotic syndrome in the first year of life, the mutations in Turks and the relationship between genetic disorders and clinical findings in a large group of patients. We sequenced NPHS1, NPHS2, WT1 and LAMB2 genes in 102 congenital and infantile nephritic syndrome patients and we correlated the genetic findings with clinical data. We detected mutations in one of these 4 genes in 65% of the patients. 15 of these mutations were novel. Most of the mutations were detected in NPHS1 (%37). Mutation detection rate was two-folds higher in congenital nephrotic syndrome patients than infantile nephrotic syndrome patients (73% vs 36%). In congenital nephrotic syndrome patients most of the mutations were detected in NPHS1 (46%). In infantile nephrotic syndrome patients most of the mutations were in NPHS2 (%14) and WT1 (%14). Age at disease onset was significantly earlier in patients with NPHS1 mutations. Survival of the patients with NPHS2 mutations was significantly better than patients with mutations in other genes. Female patients with NPHS1 mutations had better survival rates compared to males with NPHS1 mutations. NPHS1 mutations affecting the extracellular domain of the protein were associated with worse survival rates compared with mutations affecting other domains of the protein. These results clearly demonstrate the genetic disorders causing congenital and infantile nephrotic syndrome in Turkey and association of genetic disorders with prognosis.Proteinüri, hipoalbuminemi, hiperlipidemi ve ödemle seyreden nefrotik sendrom özellikle hayatın ilk yılında görüldüğünde (konjenital ve infantil nefrotik sendrom) hayatı tehdit eden bir hastalıktır. Konjenital ve infantil nefrotik sendrom çoğunlukla glomerüler filtrasyon bariyerinin yapısal veya düzenleyici proteinlerini kodlayan genlerdeki mutasyonlardan kaynaklanmaktadır. Bu çalışmanın amacı Türk toplumunda 1 yaş altında görülen nefrotik sendroma neden olan genlerin sıklığını, bu genlerdeki mutasyonları ve genetik bozukluklarla hastaların klinik bulguları ve hastalık seyri arasındaki ilişkiyi geniş bir örneklemde incelemektir. Toplam 102 konjenital ve infantil nefrotik sendrom hastasında NPHS1, NPHS2, WT1 ve LAMB2 genleri sekanslandı ve saptanan mutasyonlar ile klinik bulgular arasında ilişki kuruldu. Hastaların %65'inde çalışılan 4 genden birisinde hastalığa neden olan mutasyonlar saptandı. Saptanan mutasyonların 15'i ilk kez bu çalışmada tanımlandı. Mutasyonlar en sık NPHS1 geninde saptandı (%37). Mutasyon saptama oranı konjenital nefrotik sendromlu hastalarda infantil nefrotik sendromlu hastalara göre iki kat daha yüksek bulundu (%73'e karşılık %36). Konjenital nefrotik sendrom hastalarında en sık mutasyon saptanan gen NPHS1 (%46) iken infantil nefrotik sendrom hastalarında NPHS2 (%14) ve WT1 (%14) idi. NPHS1 mutasyonu saptanan hastalarda hastalık başlangıcının daha erken olduğu görüldü. NPHS2 mutasyonu saptanan hastaların sağkalım oranı diğer genlerde mutasyon saptanan hastalara göre anlamlı olarak yüksek bulundu. NPHS1 mutasyonu saptanan kız çocuklarında sağkalım oranı erkeklere göre belirgin olarak yüksek bulundu. NPHS1 geninde saptanan ve proteinin ekstraselüler bölgesini ilgilendiren mutasyonların daha kötü sağkalımla ilişkili olduğu görüldü. Bu bulgular Türk toplumunda konjenital ve infantil nefrotik sendroma neden genetik bozuklukları ve bu bozukluklar ile prognoz arasındaki ilişkiyi açıkça ortaya koymuştur

A Turkish Bcs1L Mutation Causes Gracile-Like Disorder

A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly affected sisters had died before 3 months of age. Mitochondrial disorder was suspected since the disease resembled the Finnish GRACILE syndrome, caused by a homozygous mutation (c.232A>G) in BCS1L. Thus, we sequenced the BCS1L gene, encoding the assembly factor for respiratory chain complex III. The patient had a homozygous mutation (c. 296C>T; p.P99L), for which both parents were heterozygous. In four previously published patients of Turkish origin, the same homozygous mutation resulted in complex III deficiency, tubulopathy, encephalopathy, and liver failure. The p.P99L mutation seems to be specific to Turkish population and leads to GRACILE-like or Leigh-like condition. Assembly defects in complex III should be investigated in the affected tissues, since fibroblasts may not exhibit the deficiency.WoSScopu

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye

Background: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. Methods: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Türkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. Results: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. Conclusions: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower

A snapshot of pediatric inpatients and outpatients with COVID-19: a point prevalence study from Turkey

This multi-center point prevalence study evaluated children who were diagnosed as having coronavirus disease 2019 (COVID-19). On February 2nd, 2022, inpatients and outpatients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) were included in the study from 12 cities and 24 centers in Turkey. Of 8605 patients on February 2nd, 2022, in participating centers, 706 (8.2%) had COVID-19. The median age of the 706 patients was 92.50 months, 53.4% were female, and 76.7% were inpatients. The three most common symptoms of the patients with COVID-19 were fever (56.6%), cough (41.3%), and fatigue (27.5%). The three most common underlying chronic diseases (UCDs) were asthma (3.4%), neurologic disorders (3.3%), and obesity (2.6%). The SARS-CoV-2-related pneumoniae rate was 10.7%. The COVID-19 vaccination rate was 12.5% in all patients. Among patients aged over 12 years with access to the vaccine given by the Republic of Turkey Ministry of Health, the vaccination rate was 38.7%. Patients with UCDs presented with dyspnea and pneumoniae more frequently than those without UCDs (p < 0.001 for both). The rates of fever, diarrhea, and pneumoniae were higher in patients without COVID-19 vaccinations (p = 0.001, p = 0.012, and p = 0.027). Conclusion: To lessen the effects of the disease, all eligible children should receive the COVID-19 vaccine. The illness may specifically endanger children with UCDs. What is Known: • Children with COVID-19 mainly present with fever and cough, as in adults. • COVID-19 may specifically threaten children with underlying chronic diseases. What is New: • Children with obesity have a higher vaccination rate against COVID-19 than children without obesity. • Among unvaccinated children, fever and pneumoniae might be seen at a higher ratio than among vaccinated children