We observed that changing the concentrations of ingredients of commercially available fibrin glue, the source of the cartilage, or the cultured chondrocyte concentration did not have significant effect on neocartilage formation.
ABSTRACT. Two local (Vezir-1 and Vezir-2) and two standard (M9 and MM106) clonal apple rootstocks were compared using both morphological and molecular markers. International Union for the Protection of New Varieties of Plants criteria were used for morphological evaluation, which did not clearly separate these rootstocks. We tested 47 random decamer primers for random amplified polymorphic DNA analysis; 15 of them gave reproducible polymorphic patterns, yielding 109 bands, which showed 78% polymorphism. Based on a dendrogram obtained by unweighted pair group method using arithmetic average analysis, three clusters were obtained. The highest genetic similarities were found between M9 and Vezir-2 (0.670). The random amplified polymorphic DNA markers proved to be more efficient than the standard morphological markers for the identification of rootstocks.
Objective:Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease. Iron overload as a result of transfusion is important in the mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of hemochromatosis gene (HFE) p.H63D and p.C282Y mutations on transfusion-related cardiac and liver iron overload in sickle cell disease patients who carry homozygous hemoglobin S mutation has been investigated.Materials and Methods:This is a prospective single-center cross-sectional study in patients with homozygous hemoglobin S mutation between the years 2008 and 2013. The patients were divided into two groups. The first group (group A, n=31) was receiving chelation therapy and the second group (group B, n=13) was not. Direct and indirect iron loads were analyzed by magnetic resonance imaging and biochemically, respectively. HFE gene mutations were analyzed by polymerase chain reaction-restriction fragment length polymorphism method. Statistical analyses were performed by independent samples t-test.Results:p.H63D mutation was detected in 10 (32.3%) patients in group A and in only 1 patient (7.7%) in group B. When the 2 groups were compared for iron overload, iron deposition in the liver was significantly higher in group B (p=0.046). In addition, in group A, iron deposition was significantly higher in HFE mutation carriers compared to patients without the mutation (p=0.05).Conclusion:Results of this study showed that HFE gene mutations are important in iron deposition in the liver in patients with sickle cell disease.
A 39-year-old woman who became pregnant with twins after an intracytoplasmic sperm injection was referred at the ninth gestational week to determine chorionicity. Ultrasonographic examination showed a monochorionic diamniotic twin pregnancy. First trimester nuchal translucency measurements of the fetuses were 1.6 and 2.7 mm. A non-invasive prenatal test was performed and revealed low risk. One fetus appeared to be female and the other male at the 14th gestational week. Second trimester anatomic scanning results were otherwise normal for both fetuses. The newborns delivered at term appeared to be normal female and male babies phenotypically. At the fourth month, buccal cell analysis showed chimeric karyotypes, 46,XX[98]/46,XY[2] and 46,XY[98]/46,XX[2] in the female and male infant, respectively. The recognition of sex discordance despite monochorionicity may be a clue for the diagnosis of such rare cases of chimerism in dizygotic twins, most of which occur in pregnancies obtained by assisted reproductive technology.
Objective: First trimester nuchal translucency (NT) measurement is considered to be an important tool in antenatal follow-up. This study aimed to evaluate the outcomes of pregnancies with increased NT at Başkent University Ankara Hospital between 2004 and 2016. Materials and Methods: Patients with NT measurements ≥1.5 multiples of median (MoM) were divided into two groups; group I included increased NT cases without fetal anomalies (either abnormal fetal karyotype or congenital structural anomalies) or loss (intrauterine fetal death), and group II included increased NT cases with fetal anomalies or loss. The groups were compared with each other with respect to maternal demographic features and NT measurements. Results: Karyotype analyses were normal in 73.1% of cases with increased NT (57/78). Among those, 21.1% (12/57) had structural anomalies, and to specify, 9.6% (5/52 over 18 weeks) had cardiac anomalies. Although maternal demographic features did not differ significantly, NT measurements, both as millimeters and MoM, were significantly higher in group II (p<0.05). According to the receiver operating characteristic (ROC) curves, the optimal cut-off values for NT measurements for predicting fetal anomalies or loss were 3.05 mm and 2.02 MoM. NT measurement >7 millimeters or NT MoM >4.27 resulted in poor fetal outcomes without exception. Conclusion: Higher NT measurements indicate poorer pregnancy outcomes. Our study indicates that fetal echocardiography must be considered for all cases with increased NT.
On hafta ve üzeri gebelik terminasyonlar›n›n analizi-Tek merkezli çal›flma Amaç: Klini¤imizde yap›lm›fl olan 10 hafta ve üzeri gebelik termi-nasyonlar›n›n endikasyonlar›n› ve obstetrik özelliklerini inceleyerek, bu olgular› daha iyi yönetebilmeyi ve do¤ru yaklafl›mlar› gelifltirebilmeyi amaçlad›k. Yöntem: Ocak 2012-Ocak 2019 aras›nda klini¤imizde gerçekleflmifl 379 terminasyon olgusunun maternal verileri, obstetrik özellikleri ve endikasyonlar› de¤erlendirildi. Endikasyonlar; maternal nedenler, amniyotik s›v› anomalileri, izole yap›sal, çoklu konjenital ve genetik bozukluklar olarak grupland›r›ld›. Gruplar özelliklerine göre s›n›fland›r›ld› ve kendi aralar›nda karfl›laflt›r›ld›. Bulgular: Ortalama yafl 30.2±6, ortalama gebelik haftas› 17.4±3.5, ortalama terminasyon süresi 16.4±14.5 saatti. En s›k amniyotik s›-v› anomalileri nedeniyle terminasyon yap›ld›¤› izlendi (n=126, %33.2). Fetal nedenler içerisinde en s›k izole yap›sal anomaliler (n=114, %30.1) tespit edildi. Santral sinir sistemi anomalileri en çok görülen izole yap›sal anomaliler idi (n=60, %15.8). Terminas-yonlar›n 25/379'u (%6.6) maternal nedenli idi. Genetik bozukluklar için invaziv tetkik istenme oran› %49.6 (n=197), yap›lma oran› %31.7 (n=120) idi. En s›k trizomi 21 (n=39, %55.7) olmak üzere kromozomal anomali 69 (%18.2) olguda tespit edildi. Kromozomal anomalilerin daha ileri maternal yafl ve daha erken gebelik haf-talar›nda tespit edildi¤i izlendi. ‹zole yap›sal ve çoklu konjenital anomalilerin ise daha genç yaflta ve daha ileri gebelik haftalar›nda saptand›¤› görüldü (özellikle kardiyak ve ürogenital anomaliler) (maternal yafl, p=0.002; gebelik haftas›, p<0.001). Sonuç: Terminasyon olgular›n›n yönetiminde fetal ve maternal nedenlerin ve terminasyon komplikasyonlar›n›n analizi, takip eden gebeliklerin tan› ve terminasyon süreçlerinin yönetiminde örnek olacakt›r. Gebelik terminasyonlar›n›n etik, psikolojik, ekonomik ve yasal boyutlar›n›n dikkate al›nmas›, aile ile hekim iflbirli¤i içerisinde bu konuda standart yaklafl›mlar›n oluflturulmas›nda etkili olaca¤› görüflündeyiz.
Osteopetrosis is a rare genetic disorder caused by osteoclast failure. Dominant negative mutations of the ClCN7 gene cause the so-called, autosomal dominant osteopetrosis type II, which represents the most frequent and heterogeneous form of osteopetrosis, ranging from asymptomatic to intermediate-severe, thus suggesting additional genetic and environmental determinants affecting penetrance. Here, we present a case a 46 year-old woman complained low back pain for 15 years. The patient lacked any history of direct trauma and her pain was radiating to her left leg, increasing with physical activity, she had no pain at nights. The patient was diagnosed with autosomal dominant osteopetrosis on the basis of the presence of typical radiological appearance. Were present a case report of osteopetrosis type II (an autosomal dominantly inherited disease) as a cause for low back pain without any familial penetrance of the disease.
Bir hekim, kariyeri boyunca mesleği gereği pek çok görüşme gerçekleştirmekte ve tıbbi görüşmeyi klinik tıpta en sık uygulanan prosedür haline getirmektedir. Bu nedenle iletişim ve empati, hastalarla görüşme yaparken istenilen ve geliştirilmesi gereken önemli bir klinik beceridir. Hekim adayları açısından düşünüldüğünde ise iletişim ve empati, öğretilip öğrenilebilen temel bir klinik beceridir. Bu çalışmada amacımız, hekim adaylarının klinik öncesi iletişim ve empati becerilerinin değerlendirilmesi ve demografik değişkenler açısından incelenmesidir. Bu anlamda elde edilen bulguların tıp eğitimi müfredatı açısından ihtiyaç analizi niteliğinde olabileceği düşünülmektedir.
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