Spatial and temporal heterogeneity in human mobility patterns in Holocene Southwest Asia and the East Mediterranean

We present a spatiotemporal picture of human genetic diversity in Anatolia, Iran, Levant, South Caucasus, and the Aegean, a broad region that experienced the earliest Neolithic transition and the emergence of complex hierarchical societies. Combining 35 new ancient shotgun genomes with 382 ancient and 23 present-day published genomes, we found that genetic diversity within each region steadily increased through the Holocene. We further observed that the inferred sources of gene flow shifted in time. In the first half of the Holocene, Southwest Asian and the East Mediterranean populations homogenized among themselves. Starting with the Bronze Age, however, regional populations diverged from each other, most likely driven by gene flow from external sources, which we term “the expanding mobility model.” Interestingly, this increase in inter-regional divergence can be captured by outgroup-f$_3$-based genetic distances, but not by the commonly used F$_{ST}$ statistic, due to the sensitivity of F$_{ST}$, but not outgroup-f$_3$, to within-population diversity. Finally, we report a temporal trend of increasing male bias in admixture events through the Holocene

CADASIL and A Family

OBJECTIVE: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a systemic vasculopathy that causes various clinical pictures as recurrent ischemic attacks, migrainous headache, pseudo bulbar palsy, epileptic seizures and dementia. Mutations of notch3 gene on chromosome 19 are responsible for the disease. METHODS: The aim of this study is to draw attention to the family history and neuroradiological investigations of a genetically diagnosed CADASIL case. RESULTS: A forty-seven-years-old woman who presented with left hemiparesis was investigated for the cause of stroke as well as her family history. Her mother was reported to have chronic headache. Then inappropriate crying and laughing attacks, behavioral disturbances, urinary incontinency had contributed and she had died at the age of 51 following sudden loss of consciousness. Her father had had four stroke attacks after 45 and before he died at the age of 73 he was unresponsive for the last 10 years. First sibling, 58 years-old female had a history of three stroke attacks and reported forgetfulness. Second sibling, a female, suffered from headache and had died at the age of 37 succeeding two epileptic seizures. Third sibling, 53 years-old female was said to be living bedridden for the last 5 years. Fourth sibling was 51 years-old male and had had a stroke attack at the age of 38. Fifth sibling was 48 years-old female whose speech disorder started 10 years ago. Laughing and crying attacks, incontinency, childish behavior and forgetfulness were also added. Sixth sibling was our patient. Seventh sibling was 45 years-old, male and had no complaints. First, fourth, sixth and seventh siblings were evaluated in systematic, neurological, neuropsychological and neuroradiological perspectives. CONCLUSION: In addition to family history, hyperintensities in temporal polar region and external capsule on flair and T2-weighted MRI supported the diagnosis of CADASIL in our case. The diagnosis was confirmed by detecting R133C mutation in notch3 gene, 4th exo

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

Atrial Fibrillation Management in Acute Stroke Patients in Türkiye: Real-life Data from the NöroTek Study

Objective: Atrial fibrillation (AF) is the most common directly preventable cause of ischemic stroke. There is no dependable neurology-based data on the spectrum of stroke caused by AF in Turkiye. Within the scope of NoroTek-Turkiye (TR), hospital-based data on acute stroke patients with AF were collected to contribute to the creation of acute-stroke algorithms.Materials and Methods: On May 10, 2018 (World Stroke Awareness Day), 1,790 patients hospitalized at 87 neurology units in 30 health regions were prospectively evaluated. A total of 929 patients [859 acute ischemic stroke, 70 transient ischemic attack (TIA)] from this study were included in this analysis.Results: The rate of AF in patients hospitalized for ischemic stroke/TIA was 29.8%, of which 65% were known before stroke, 5% were paroxysmal, and 30% were diagnosed after hospital admission. The proportion of patients with AF who received "effective" treatment [international normalization ratio >= 2.0 warfarin or non-vitamin K antagonist oral anticoagulants (NOACs) at a guideline dose] was 25.3%, and, either no medication or only antiplatelet was used in 42.5% of the cases. The low dose rate was 50% in 42 patients who had a stroke while taking NOACs. Anticoagulant was prescribed to the patient at discharge at a rate of 94.6%; low molecular weight or unfractionated heparin was prescribed in 28.1%, warfarin in 32.5%, and NOACs in 31%. The dose was in the low category in 22% of the cases discharged with NOACs, and half of the cases, who received NOACs at admission, were discharged with the same drug.Conclusion: NoroTekTR revealed the high but expected frequency of AF in acute stroke in Turkiye, as well as the aspects that could be improved in the management of secondary prophylaxis. AF is found in approximately one-third of hospitalized acute stroke cases in Turkiye. Effective anticoagulant therapy was not used in three-quarters of acute stroke cases with known AF. In AF, heparin, warfarin, and NOACs are planned at a similar frequency (one-third) within the scope of stroke secondary prophylaxis, and the prescribed NOAC dose is subtherapeutic in a quarter of the cases. Non-medical and medical education appears necessary to prevent stroke caused by AF