Current Approach to Genetic Causes of Female Infertility and Genetic Counseling

Infertility is a disease of the male or female reproductive system and is defined as the inability to achieve pregnancy after 12 months or more of regular and unprotected sexual intercourse. Data shows that more than 186 million people worldwide are infertile. About 10% of the women of reproductive age are unable to conceive or maintain a pregnancy. In this study, the causes of female infertility were reviewed under several headings and the importance of genetic counseling in infertility was also mentioned. There are many different causes of female infertility, including both genetic and non-genetic causes. In this review, current developments and approaches in the genetic etiology of female infertility were reviewed under six main headings, chromosomal abnormalities, female genital system disorders, hypogonadotropic hypogonadism, primary ovarian failure, polycystic ovary syndrome, and gonadal dysgenesis. Also, the role of genetic counseling in these diseases was discussed. The aim of genetic counseling is to inform people with a hereditary disease or at high risk of carrying it about the course of the disease and treatment methods, and also to guide future generations and family members about their risks. After all tests and examinations, genetic counseling has a very important place in reproductive health

Identification of volatile compounds (VCs) in the leaves collected from 'Gemlik', 'Halhalı' and 'Sarı Hasebi' olive tree varieties

There is a considerably interest on some fruits and leaves extracts such as olive leaf, due to their beneficial health effects. Olive leaf has been consumed as tea for many years. However, the studies on volatile compounds (VCs) of leaves are scarce. Therefore, this study was aimed to evaluate of VCs in the leaves collected from 'Gemlik', 'Halhalı' and 'Sarı Hasebi' olive trees varieties grown in Hatay province. The VCs were analyzed by gas chromatography-mass spectrometry (GC-MS) using solid phase micro-extraction (SPME). The 97 out of 127 VCs identified were found common in all the olive leaves. Terpenes, aldehydes, alcohols and ketones were identified in the olive leaves as major VCs groups, which accounted for about 36-60%, 20-28%, 6-14% and 4-8% of total VCs identified in leaves, respectively. The relative proportions of these chemical groups showed considerably differences among olive leaves. ?-Cubebene was found as major VC followed by transcaryophyllene, cycloisosativene, benzaldehyde. These compounds accounted for 56-75% of total VCs identified in the olive leaves. While 'Halhalı' olive leaf had highest (p<0.01) levels of ?-cubebene (31.79%), cycloisosativene (7.69%) and ?-muurolene (4.05%), 'Sarı Hasebi' had trans-caryophyllene (23.16%), trans-4,8-dimethyl-1,3,7-nonatriene (4.65%), ?humulene (3.64%) and 'Gemlik' had benzeneethanol (6.93%), nonanal (5.07%), and benzaldehyde (2.17%) at the highest levels. This study has showed that olive leaves from each variety are a good terpene source that makes them important in terms of beneficial effects on health.There is a considerably interest on some fruits and leaves extracts such as olive leaf, due to their beneficial health effects. Olive leaf has been consumed as tea for many years. However, the studies on volatile compounds (VCs) of leaves are scarce. Therefore, this study was aimed to evaluate of VCs in the leaves collected from 'Gemlik', 'Halhalı' and 'Sarı Hasebi' olive trees varieties grown in Hatay province. The VCs were analyzed by gas chromatography-mass spectrometry (GC-MS) using solid phase micro-extraction (SPME). The 97 out of 127 VCs identified were found common in all the olive leaves. Terpenes, aldehydes, alcohols and ketones were identified in the olive leaves as major VCs groups, which accounted for about 36-60%, 20-28%, 6-14% and 4-8% of total VCs identified in leaves, respectively. The relative proportions of these chemical groups showed considerably differences among olive leaves. ?-Cubebene was found as major VC followed by transcaryophyllene, cycloisosativene, benzaldehyde. These compounds accounted for 56-75% of total VCs identified in the olive leaves. While 'Halhalı' olive leaf had highest (p<0.01) levels of ?-cubebene (31.79%), cycloisosativene (7.69%) and ?-muurolene (4.05%), 'Sarı Hasebi' had trans-caryophyllene (23.16%), trans-4,8-dimethyl-1,3,7-nonatriene (4.65%), ?humulene (3.64%) and 'Gemlik' had benzeneethanol (6.93%), nonanal (5.07%), and benzaldehyde (2.17%) at the highest levels. This study has showed that olive leaves from each variety are a good terpene source that makes them important in terms of beneficial effects on health

PCA Infarction With Its Cognitive Findings: More Than Hemianopia

Posterior cerebral artery infarctions constitute 5-10 % of all ischemic strokes.In this case report, a 62 year-old man presenting with right hemiparesia and dysarthria is going to be discussed. The patient had acute onset- demential symptoms and difficulty in reading, and acute infarction in the territory of left posterior cerebral artery was detected in cranial magnetic resonance imaging. The patient who had acute ischemic lesions in left parahippocampus, splenium of corpus callosum, left fusiform gyrus and left thalamus was evaluated with detailed neuropsychological tests. Cognitive deficits severe enough to affect daily living were detected. Pure alexia, anterograde amnesia and anomia, being often neglected manifestations of unilateral posterior cerebral artery infarction, are going to be reviewed with corresponding radiological finding

Determining the impact of various surfaces in open green areas of İskenderun coastal band on thermal comfort.

In this study, it is aimed to determine the effect of the thermal comfort of the surface temperature formed by different floor coverings that are used context, differences between grass surfaces, trees, and shade conditions are also revealed along with hard floors. It is thought that the data to be obtained as a result of the study will contribute to the selection of the selection criteria for the floor materials, which are among the factors that change the level of thermal comfort outdoors in the Mediterranean cities

A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia

Severe congenital neutropenia (SCN) is a rare disease. Autosomal recessive forms of SCN are more frequent in countries where consanguineous marriages are common. In this report, we describe a 54-day-old female with neutropenia who presented with ecthyma gangrenosum. Clinical exome sequencing was used to identify the mutation. HAX1 messenger RNA and isoforms were examined by real-time quantitative and conventional polymerase chain reaction. Bone marrow aspiration was stained by hematoxylin and eosin. Granulocytes were tested for apoptosis upon H2O2 exposure. T-cell proliferation was tested by flow cytometry. Clinical exome sequencing revealed a novel homozygous acceptor splice site mutation in intron 3 of HAX1 (c.505-1G>C), which reduced both isoforms A and B of HAX1 messenger RNA. The Western blot studies showed a complete absence of HAX1 protein. The purified neutrophils from the patient showed increased apoptosis upon H2O2 exposure, whereas T-cell proliferative responses to various stimuli were intact. The patient was treated with combined antibiotics, filgrastim, and placed on antibiotics prophylaxis. To the best of our knowledge, our data provide the first experimental evidence for HAX1 deficiency because of a splice site mutation. Although 3 other splice site variants have been deposited in databases, functional studies were missing. This novel variant of HAX1 may explain the SCN and secondary infections in our patients

Gastrostomy in hospitalized patients with acute stroke: "NoroTek" Turkey point prevalence study subgroup analysis

Objective: Nutritional status assessment, dysphagia evaluation and enteral feeding decision are important determinants of prognosis in acute neurovascular diseases. Materials and Methods: NöroTek is a point prevalence study conducted with the participation of 87 hospitals spread across all health sub regions of Turkey conducted on 10-May-2018 (World Stroke Awareness Day). A total of 972 hospitalized neurovascular patients [female: 53%, age: 69±14; acute ischemic stroke in 845; intracerebral hematoma (ICH) in 119 and post-resuscitation encephalopathy (PRE) in 8] with complete data were included in this sub-study. Results: Gastrostomy was inserted in 10.7% of the patients with ischemic stroke, 10.1% of the patients with ICH and in 50% of the patients with PRE. Independent predictors of percutaneous endoscopic gastrostomy (PEG) administration were The National Institutes of Health Stroke Scale score at admission [exp (β): 1.09 95% confidence interval (CI): 1.05-1.14, per point] in ischemic stroke; and mechanical ventilation in ischemic [exp (β): 6.18 (95% CI: 3.16-12.09)] and hemorrhagic strokes [exp (β): 26.48 (95% CI: 1.36-515.8)]. PEG was found to be a significant negative indicator of favorable (modified Rankin’s scale score 0-2) functional outcome [exp (β): 0.032 (95% CI: 0.004-0.251)] but not of in-hospital mortality [exp (β): 1.731 (95% CI: 0.785-3.829)]. Nutritional and swallowing assessments were performed in approximately two-thirds of patients. Of the nutritional assessments 69% and 76% of dysphagia assessments were completed within the first 2 days. Tube feeding was performed in 39% of the patients. In 83.5% of them, tube was inserted in the first 2 days; 28% of the patients with feeding tube had PEG later. Conclusion: The NöroTek study provided the first reliable and large-scale data on key quality metrics of nutrition practice in acute stroke in Turkey. In terms of being economical and accurate it makes sense to use the point prevalence method.Amaç: Akut nörovasküler hastalıklarda nütrisyonel durum ve disfaji değerlendirmesi ve enteral beslenme kararı önemli prognoz belirleyicilerindendir. Gereç ve Yöntem: NöroTek, 10 Mayıs 2018’de (Dünya İnme Farkındalık Günü) Türkiye’nin tüm sağlık alt bölgelerine yayılmış 87 hastanenin katılımıyla gerçekleştirilen bir nokta prevalans çalışmasıdır. Hastanede yatan ve bu alt çalışma için toplanan verisi tam olan toplam 972 nörovasküler hasta (kadın: %53, yaş: 69±14 yıl; 845’i akut iskemik inme; 119’u intraserebral hematom ve 8’i post-resüsitasyon ensefalopatisi) analiz edildi. Bulgular: Gastrostomi iskemik inmeli hastaların %10,7, intraserebral kanamalıların %10,1 ve post-resusitasyon ensefalopatisi olanların %50’sine uygulanmıştır. Perkütan endoskopik gastrostomi (PEG) gereksiniminin bağımsız belirleyicileri, iskemik inme grubunda kabul NIHSS [exp (β): 1,09, %95 güven aralığı (GA): 1,05-1,14, puan başına] ile hem iskemik hem de hemorajik inmelerde mekanik ventilasyon uygulanmış olmasıdır [iskemik için: exp (β): 6,18, %95 GA: 3,16- 12,09] ve hemorajik inme için: [exp (β): 26,48, 95% GA: 1,36-515,8]. İnme olgularında PEG uygulaması hastane içi mortalite için bağımsız belirleyici değildi [exp (β): 1,731, 95% GA: 0,785-3,829]. Ancak, PEG uygulanmış olması taburculuk esnasında iyi prognoza (modifiye Rankin skoru 0-2) sahip olabilme için anlamlı bir negatif etmen olarak bulundu [exp (β): 0,032, %95 GA: 0,004-0,251]. Hastanede yatan nörovasküler hastaların yaklaşık üçte ikisinde malnütrisyon ve yutma bozukluğu açısından değerlendirme yapılmıştı. Nutrisyonel status değerlendirmesinin %69’u ve disfaji değerlendirmesinin %76’sı ilk 48 saat içinde gerçekleştirilmişti. Tüple enteral nütrisyon uygulama oranı %39’du. Beslenme tüplerinin %83,5’i ilk 2 gün içinde yerleştirilirken beslenme tüpü olan hastaların %28’ine daha sonra PEG açılmıştı. Sonuç: NöroTek çalışması ile Türkiye’de hastanede yatan akut inme hastalarında nutrisyonel uygulamaların temel kalite ölçütlerine ilişkin ilk güvenilir ve büyük ölçekli veri sağlanmıştır. Ekonomik olması ve doğruluğu açısından nokta yaygınlık yönteminin bu tip verilerin temini için daha fazla kullanılması mantıklıdır