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Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence. We hereby present a series of 26 fetuses displaying severe MCC phenotypes from 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, and genetic investigations. Most common prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios (50%), increased nuchal translucency (50%), and fetal hydrops (35%). Postmortem examinations unveiled additional anomalies including facial dysmorphisms, dysplastic skeletal changes, ichthyosis, multiple pterygia, and myopathy, allowing preliminary diagnosis of particular Mendelian disorders in multiple patients. Evaluation of the parents revealed maternal grip myotonia in one family. By exome sequencing and targeted testing, we identified causative variants in ACTC1, CHST14, COG6, DMPK, DOK7, HSPG2, KLHL7, KLHL40, KIAA1109, NEB, PSAT1, RAPSN, USP14, and WASHC5 in 15 families, and one patient with a plausible diagnosis associated with biallelic NEB variants. Three patients received a dual diagnosis. Pathogenic alterations in newly discovered genes or in previously known genes recently linked to new MCC phenotypes were observed in 44% of the cohort. Our results provide new insights into the clinical and molecular landscape of lethal MCC phenotypes. [ABSTRACT FROM AUTHOR]

Objective: This study is an examination of the protective effects of alpha-lipoic acid (ALA) on cerebral vasospasm in an experimental rat model with subarachnoid hemorrhage (SAH) using biochemical, pathological, and histomorphometric analyses. Methods: A total of 28 albino Wistar rats were randomly categorized into 4 groups (n=7 each): Group (G)1, no experimental intervention; G2, subjected to SAH; G3, subjected to SAH and given physiological saline (100 mg/kg); and G4, subjected to SAH and treated with ALA (100mg/kg). Results: No statistically significant decrease in malondialdehyde level, the end product of lipid peroxidation, was observed among the drug groups (G3 and G4). Furthermore, there was no statistical increase in paraoxonase level, an endogenous antioxidant enzyme, among the drug groups (G3 and G4). Thin sections of the basilar artery were morphologically examined, and severe luminal narrowing and vessel wall thickening were observed in the SAH groups (G2 and G3). In the ALA group (G4), vessel wall thickness measurements revealed no statistically significant difference compared with the other SAH groups (G2 and G3); however, G4 rats were found to have larger luminal diameters than those in G3. Conclusion: These findings suggest that ALA had no effect on malondialdehyde-associated lipid peroxidation and paraoxonase activity; however, it had a favorable effect on basilar artery luminal diameter in the treatment of cerebral vasospasm following SAH.

Objective Progesterone, which is necessary for maintenance of pregnancy, is secreted by corpus luteum until 10 weeks of gestation, and is produced from the placenta afterwards. Aim of this study is to investigate the relationship of serum progesterone concentrations measured in 6–8 weeks and 12 weeks of gestation with the parameters that may demonstrate placental dysfunction in the third trimester. Methods Relationship of the progesterone values measured at 6–8 weeks and 12 weeks of gestation with indicators of placental dysfunction, including hypertensive disorders of pregnancy, intrauterine growth restriction, preterm delivery and low birth weight, were evaluated. Furthermore, based on a previous study, two groups with progesterone levels below and above 11 ng/mL in early pregnancy were formed, and the difference between these groups regarding gestational outcomes were investigated. Results Progesterone concentrations at 6–8 and 12 weeks of gestation were not significantly different between the subgroups with and without gestational complications indicating placental dysfunction (p>0.05 for all parameters). As for the two groups, significant difference was not found in terms of third trimester complications due to progesterone cut-off of 11 ng/mL at 6-8 weeks of gestation. Conclusion In this study, we did not find progesterone values measured at early and late first trimester periods to be associated with placental dysfunction in the third trimester. Also, we did not validate a previously suggested threshold value to predict gestational outcome. Therefore, routine first trimester progesterone screening in guiding pregnancy follow-up may not be appropriate.

Amaç: Trigliserid/yüksek yoğunluklu lipoprotein kolesterol (TG/HDL-K) oranı serum aterojenite indeksi olarak tanımlanmıştır. Yüksek TG/HDL-K oranı vasküler hastalıklar, insülin direnci ve metabolik sendrom ile ilişkilidir. Serebrovasküler olaylarda özellikle sessiz serebral lezyonlarda TG/HDL-K oranı ile ilgili çalışmalar azdır. Bu çalışmanın amacı, ilk iskemik inme atağı ile başvuran hastalarda sessiz serebral iskemi (SSİ) ve lökoariozis (LA) sıklığını ve TG/HDL-K oranı ile ilişkisini değerlendirmektir. Gereç ve Yöntemler: Bülent Ecevit Üniversitesi Tıp Fakültesi Nöroloji bölümüne akut ilk iskemik inme tanısı ile başvuran 200 hasta geriye dönük olarak değerlendirildi. Manyetik rezonans görüntüleme ile sessiz serebral lezyonlar SSİ ve LA olarak tanımlandı. TG/HDL-K oranı TG değerinin HDL-K değerine bölünmesi ile hesaplandı. Bulgular: Yüz kırk dokuz hastanın 124 (%83,2)’ünde sessiz serebral lezyon saptandı. LA şiddeti Fazekas skorlamasına göre değerlendirildi, hastaların 22 (%14,8)’si grade 0, 49 (%32,9)’u grade 1 ve 78 (%52,3)’i ileri düzey periventriküler beyaz cevher lezyonu (advanced periventricular white matter hyperintensity, adv-PWMH) grubundaydı. SSİ grubunda TG/HDL-K oranı SSİ olmayan gruba göre daha yüksek bulundu, ancak istatistiksel olarak anlamlı değildi (p=0,091). LA şiddeti arttıkça TG/HDL-K oranında anlamlı bir artış olduğu izlendi. TG/HDL-K oranı, adv-PWMH grubunda anlamlı derecede yüksek idi (p=0,050). Sonuç: Yüksek serum aterojenite indeksi ateroskleroz ve vasküler endotelyal disfonksiyon ile ilişkilidir. Bu basit, ucuz ve etkili test yöntemi ile LA ve SSİ yüksek risk grubu belirlenebilir.

Objective: To define normal values of second trimester fetal corpus callosum (CC) length and width in a low-risk population and to compare the presented nomograms to those in the literature. Methods: The prenatal records of singleton fetuses who underwent second trimester anomaly screening at 18.0–22.0 weeks of pregnancy were retrospectively analyzed for CC width and length. A total of 710 fetuses, whose anomaly scans were completely normal, were included in the study. The correlations between CC and biparietal diameter (BPD), head circumference (HC) and gestational age (GA) were evaluated. Results: At 18.0–22.0 weeks of pregnancy, the mean CC length was 19.7±2.8 mm, while the mean CC thickness was 1.98±0.4 mm. In assessment of the correlations between the CC length and thickness values and the HC, BPD and GA values by Pearson’s correlation coefficient, there was a stronger correlation between the CC length measurements and the BPD, HC and GA values (r=0.233 vs r=0.505, p

© 2015 Economic Science Association We examine experimentally how complexity affects decision-making, when individuals choose among different products with varying benefits and costs. We find that complexity in costs leads to choosing a high-benefit product, with high costs and overall lower payoffs. In contrast, when complexity is in the benefits of the product, we cannot reject the hypothesis of random mistakes. We also examine the role of heterogeneous complexity. We find that individuals still (mistakenly) choose the high-benefit but costly product, even if cheaper and simple products are available. Our results suggest that salience is a main driver of choices under different forms of complexity.

Objective: Ventricular repolarization (VR) markers may predict ventricular arrhythmias and cardiac arrest. The aim of this study was to investigate the acute effects of a hemodialysis (HD) session and HD adequacy on VR markers in HD patients. Methods: This cross-sectional study was conducted at 2 university hospitals with 83 patients and VR markers were measured before and after an HD session: QT, QTc, QT minimum, QT maximum, dispersion of QT (QTd), T-peak to T-end (Tp-e) interval, and Tp-e/QT. Kt/V measurements calculated using the second generation Daugirdas formula were used to indicate dialysis adequacy. The patients were divided into 2 groups according to the Kt/V value. Group 1 patients had a Kt/V of ≤1.6 with a standard dialysis dose, and Group 2 comprised those with a measurement of >1.6 with a high dialysis dose. Results: There were 36 patients in Group 1 and 47 patients in Group 2. There were statistically significantly more female patients in Group 2 (p=0.016). After an HD session, heart rate increased, blood pressure decreased, and the QT, QTc, QT maximum, QTd, Tp-e interval, and Tp-e/QT were prolonged (p

Introduction:To evaluate the prevalence and demographic data of Pseudoexfoliation syndrome (PEX) in Somali patients with age-related cataract surgery.Methods:The study included 110 eyes of 110 patients planned for undergoing cataract surgery. Slit lamp biomicroscopy was used for classifying the cataract as nuclear, cortical, mature or hypermature. Goldmann applanation tonometer was used to measure the intraocular pressure. The inclusion criteria were: age >50 years, surgical indication because of age-related cataract (severity of lens opacification ≥2 in Lens Opacity Classification System III) and visual acuity

INTRODUCTION: To determine the prevalence and causes of blindness among pediatric patients in Somalia and to identify preventable and treatable causes. METHODS: In this hospital-based, cross-sectional, descriptive study, a total of 1045 children under 16 years of age who applied to the ophthalmology clinic of Turkey, Recep Tayyip Erdogan, Somalia Mogadishu Training and Research Hospital between November 2019 and February 2020 were included and their findings were recorded. RESULTS: Of the 1045 children who applied to the ophthalmology clinic, 40 (3.8%) had unilateral blindness and 14 (1.3%) had bilateral blindness. Of these 54 patients, 32 (59.2%) were boys and 22 (40.8%) were girls. The age group in which blindness was most common in both boys and girls was 0-6 years old (24, 44.5%). The main causes of blindness were traumatic complications (25%), cataracts (20.6%) and corneal opacity (16.2%). The most common causes of bilateral blindness were cataracts (35.7%), glaucoma (21.4%), corneal opacity (13.3%) and retinal disorders (13.3%). DISCUSSION AND CONCLUSION: Corneal scarring still appears to be an important problem in children in Somalia due to vitamin A deficiency and measles infection. Trauma-related complications appear to be the most common cause of unilateral blindness as a result of long-standing internal conflict and bomb actions in the country.

Objective We aimed to evaluate and compare the retinal findings of the fundoscopic examination of mild and severe preeclampsia cases in our study. Methods The data of 165 patients who admitted to Somalia Mogadishu-Turkey Training and Research Hospital, were hospitalized in the obstetrics and gynecology clinic upon the preeclampsia diagnoses and for whom the eye consultation was requested between January 2017 and January 2020 were evaluated retrospectively. The patients were grouped according to their age, week of gestation, delivery type (cesarean section – normal delivery) and preeclampsia severity (mild – severe). The patients found to have hypertensive retinopathy changes on right or left eye or both eyes were recorded as positive in terms of the findings. Results While no pathological finding was observed in 104 (63.1%) of 165 patients who underwent fundoscopic examination, 61 (36.9%) patients had retinal pathology. Of the patients found to have pathology in their fundoscopic findings, 39 (63.9%) were severely preeclamptic and 22 (36.1%) were mildly preeclamptic. The pregnancy of 51 (83.6%) of these 61 patients was terminated at preterm period (

Background. This study aimed to assess the accuracy of three electronic apex locators (EALs) (DentaportZX [J Morita, Tokyo, Japan], Propex Pixi [Dentsply Maillefer, Ballaigues, Switzerland], and iPex II [NSK,Tokyo, Japan]) during root canal retreatment. Methods. The root canal lengths of 90 extracted single-rooted human teeth were determined under adental operating microscope at ×10 magnification. The actual working length (AWL) was 0.5 mm lessthan the root length. Electronic measurements were performed with the three EALs. The root canalswere instrumented and filled to the actual working length using the lateral compaction technique. Afterseven days, the teeth were retreated until the retreatment file was applied to the root canal at the workinglength determined by EALs, and then, the three EALs were used for determining the retreatmentworking length. Data were analyzed using chi-squared and Kruskal–Wallis tests. Results. In the retreatment, the accuracy of EALs was reported at %83.3 for Dentaport ZX, %83.4 forPropex Pixi, and %80 for iPex II within a tolerance of 0.5± mm of the AWL. Conclusion. Under the limitations of this study, Dentaport ZX, Propex Pixi, and iPex II can be a usefuladjunct during retreatment. Clinicians should be aware that residual materials in the root canal duringretreatment can affect the accuracy of EALs.

Objective This study evaluated the association between proteinuria levels and maternal, and perinatal outcomes of preeclampsia patients and determined the cutoff values for predicting severe complications. Methods We retrospectively evaluated the records of 412 patients with proteinuric preeclampsia. Results Median proteinuria levels were significantly higher in patients with severe maternal and adverse perinatal outcomes than in those without such outcomes, except in cases of placental abruption and late preterm delivery. Conclusion Proteinuria levels may aid in diagnosing preeclampsia and indicating early intervention. The revised guidelines do not suggest that proteinuria encountered during pregnancy is clinically insignificant.

DEK has a short isoform (DEK isoform-2; DEK2) that lacks amino acid residues between 49-82. The full-length DEK (DEK isoform-1; DEK1) is ubiquitously expressed and plays a role in different cellular processes but whether DEK2 is involved in these processes remains elusive. We stably overexpressed DEK2 in human bone marrow stromal cell line HS-27A, in which endogenous DEKs were intact or suppressed via short hairpin RNA (sh-RNA). We have found that contrary to ectopic DEK1, DEK2 locates in the nucleus and nucleolus, causes persistent γH2AX signal upon doxorubicin treatment, and couldn't functionally compensate for the loss of DEK1. In addition, DEK2 overexpressing cells were more sensitive to doxorubicin than DEK1-cells. Expressions of DEK1 and DEK2 in cell lines and primary tumors exhibit tissue specificity. DEK1 is upregulated in cancers of the colon, liver, and lung compared to normal tissues while both DEK1 and DEK2 are downregulated in subsets of kidney, prostate, and thyroid carcinomas. Interestingly, only DEK2 was downregulated in a subset of breast tumors suggesting that DEK2 can be modulated differently than DEK1 in specific cancers. In summary, our findings show distinct expression patterns and subcellular location and suggest non-overlapping functions between the two DEK isoforms.

The number of microorganisms and chemical values of the milks separated according to their quality are different from each other. In case of mixing different quality types of milk, composed milk quality is considered equal to the lowest quality milk type among the types of milk added to the mixture. Therefore, different types of raw milk should not be mixed during collection. The problem of milk collection is related to the collection of raw milk, which is separated according to the quality types, from the producers at different points by multi-tank tankers. In this study, an integrated mathematical model has been developed to collect different quality types of raw milk at different points under the specified time limit by means of tankers having multiple tanks. The results obtained by solving a hypothetical case study with ILOG CPLEX show that proposed model allows to optimally collect different type of raw milks without mixing. Thus, it will be possible to produce higher quality dairy products.

The Mani Peninsula is home to hundreds of Orthodox Christian churches that were built within the last millennium. As in other parts of the Eastern Mediterranean countryside, the topological relationship between churches and settlements is a critical factor in understanding the significance of the sacred landscape. Many churches are situated in the central part of a village or on its very edge, but others – what are referred to as “outlying churches” or exokklisia – are built at great distances away. In this paper, we make the first attempt to assess the spatial relationship between the spaces where people worshipped (the churches) and the spaces where they lived (the settlements) at a regional scale, focused specifically on the Middle Byzantine period and later (mid-9th century CE to the present day). Comparing these patterns across the Byzantine, Ottoman, and Modern periods allows us to frame Mani’s sacred infrastructure within a changing, diachronic perspective. The results point to a change in the topological relationship between church and settlement that is best described as the “nucleation of the sacred landscape.”

Purpose: The individuals’ workaholic tendencies are assumed to be reflected in their attitudes and behaviours in the workplace. Thus, the present study aimed to reveal the relationship between the workaholic tendencies of primary school teachers and their organizational commitment. Design/Methodology/Approach: A correlational survey model, among the quantitative research methodologies, was adopted in the study. The research sample consisted of 301 primary school teachers working in public primary schools in a metropolitan municipality city center in southeast Turkey. The research data were collected through the Organizational Commitment Scale and the Workaholism Battery. Findings: Affective commitment scores of the participating teachers are partially high while the normative commitment and continuance commitment scores are neutral. Regarding workaholism tendencies, e teachers have a high level of perception for enjoyment and work involvement through their drive perceptions are moderately high. Male teachers and those between 20-25 have higher workaholic tendencies of 38.9% grand total. The sub-dimensions of enjoyment and drive significantly predict affective and normative commitment while the work involvement sub-dimension of workaholism predicts continuance commitment. Implications/Originality/Value: The effects of workaholism should be considered for future practices and research aimed at teacher commitment to be carried out in educational settings.

© 2015 Economic Science Association We examine experimentally how complexity affects decision-making, when individuals choose among different products with varying benefits and costs. We find that complexity in costs leads to choosing a high-benefit product, with high costs and overall lower payoffs. In contrast, when complexity is in the benefits of the product, we cannot reject the hypothesis of random mistakes. We also examine the role of heterogeneous complexity. We find that individuals still (mistakenly) choose the high-benefit but costly product, even if cheaper and simple products are available. Our results suggest that salience is a main driver of choices under different forms of complexity.