Factor V Leiden distribution : could it shed some light on the pre-history of Europe and the Near East?

Polymorphism of clotting factor V, comprising Arg506Gln substitution in the factor V molecule, commonly known as Factor V Leiden, represents the most common heritable risk factor for thrombotic events in Indo-Europeans and some Semitic nations. Although it is suggested that this mutation is associated with a survival advantage that has facilitated the spread of this polymorphism in the human population, in this paper we argue against such a Darwinian evolutionary mechanism responsible for the high prevalence of FV Leiden in some countries. Instead, we propose that cultural, climatic, and geographic factors played a role. Taking into account the current distribution of FV Leiden polymorphism and the results of recent assessments of pre-historic human DNA, we suggest that actually the origin of FV Leiden mutation did not occur in the Near East, as is widely believed, but rather in a small isolated population of so-called Basal Eurasians, probably in northern Africa. This founder group probably migrated to the Near East during the Younger Dryas, a geological period associated with climate cooling. Here, they mixed with local people; still Factor V Leiden mutation remained very prevalent in this population. The invention of agriculture, which took place approximately 2,000 years later, gave the descendants of Basal Eurasians an enormous advantage over hunter-gatherers, and probably enabled a successful spread of FV Leiden polymorphism to Europe, Central Asia, and towards the Indian subcontinent

Porównanie jakości życia i ciężkości objawów klinicznych u chorych z przewlekłą niewydolnością żylną. Czy u wszystkich chorych jakość życia można określać za pomocą jednego uniwersalnego kwestionariusza?

Background. The assessment of the quality of life (QoL) questionnaire based on patients’ opinions and preferences, and to estimate whether QoL of patients with chronic venous insufficiency (CVI) should be assessed in the universal manner, or in the way depending on the progression of the disease, were the aims of the study. Material and methods. Eighty patients with C-2, -3, -4, and -6 according to CEAP classification were estimating their QoL by means of ques-tionnaire assessing: physical complaints, influence of the disease on patient’s activity, and psychological aspects of the disability. Patients were asked to evaluate the severity of each problem, as well as its subjective importance. It was also analyzed whether consideration of severity of each problem, as well as its importance for the patient, instead of the presence or absence of the problem, will result in different final assessment. Results. The statistically significant correlation was revealed between the intensity of majority of the problems and the class of CVI. However, if the subjective importance of the complaint were regarded, the final score would be significant value only for some problems. It was also demonstrated that patients from different classes of CVI did not found the same clinical problems equally important. The final score of QoL assessment depended on the method of evaluation of the questionnaire, these differences however were not statistically significant. Conclusions. It was revealed that a QoL questionnaire presented in this study can be used in the patients with CVI. Different subjective values of clinical problems for the patient with CVI at different clinical stages of the disease were demonstrated. It was not definitively answered whether specific questionnaires for different classes of CVI were necessary. The further studies of this diagnostic tool and its verification in the clinical practice are required.Wstęp. Celem pracy była ocena kwestionariusza jakości życia chorych z przewlekłą niewydolnością żylną (CVI), którego podstawą były opinie i preferencje chorych, jak również zbadanie czy sposób oceny jakości życia tych chorych powinien być uniwersalny, czy też powinien zależeć od stopnia zaawansowania choroby. Materiał i metody. Jakość życia oceniono u 80 chorych ze stopniem klinicznym C-2, -3, -4 i -6 według klasyfikacji CEAP za pomocą kwestionariusza uwzględniającego: dolegliwości fizyczne, ograniczenie aktywności życiowej i problemy psychologiczne związane z chorobą. Chorych proszono, aby oceniali nasilenie każdego z problemów oraz i jego subiektywne znaczenie. Oceniono również wpływ, jaki ma uwzględnienie nasilenia i znaczenia poszczególnych problemów zamiast dostrzegania tylko ich obecności lub braku na końcową ocenę jakości życia chorych. Wyniki. Stwierdzono statystycznie znamienną korelację nasilenia większości problemów z klasą CVI. Wykazano jednak, że uwzględniając również subiektywne znaczenie problemu, ostatecznie tylko kilka problemów ma istotne znaczenie dla chorych. Stwierdzono też, że chorzy należący do klas CVI oceniali różnie subiektywne znaczenie poszczególnych problemów. Końcowy wynik skali jakości życia zależał od sposobu oceny kwestionariusza. Jednak różnice te nie były znamienne statystycznie. Wnioski. Stwierdzono, że opracowany kwestionariusz oceny QoL można stosować u chorych z CVI. Wykazano, że dla chorych z CVI w różnym klinicznym stopniu zaawansowania choroby poszczególne problemy kliniczne mogą mieć różne subiektywne znaczenie. Nie uzyskano jednoznacznej odpowiedzi na pytanie, czy konieczne byłoby zastosowanie specyficznych kwestionariuszy dla poszczególnych klas chorych z CVI. W tym celu konieczne są dalsze prace nad tym narzędziem diagnostycznym, jak również jego weryfikacja w praktyce klinicznej

Zakrzepica zatok żylnych — diagnostyka, leczenie farmakologiczne i alternatywne leczenie endowaskularne z zastosowaniem systemów do trombektomii

Aim The aim of the article is to discuss the pathophysiology, clinical picture and neuroimaging of cerebral vein thrombosis, and present modern methods of treatment, including endovascular treatment. Methods Based on the available literature, the results of pharmacological treatment were analyzed, as well as the results of alternative endovascular treatment, currently still reserved for patients with or without an adequate response to pharmacological treatment - anticoagulant therapy. Results Clinical symptoms of venous sinus thrombosis are often non-specific and require careful neurological and imaging diagnostics. This is important because venous thrombosis is rare, affects mainly young people (mean age 35), but it is associated with a serious percentage of serious complications (up to 1% of strokes, mainly hemorrhagic etiology), and about 13% may to the death of patients. Imaging methods, pharmacological treatment and alternative treatment with thrombolytic therapy and endovascular techniques are presented. In addition, the first in Poland case of treatment of a patient with venous thrombosis with thrombectomy systems is presented as a rescue treatment, resulting in a good clinical effect. Conclusions Cerebral venous thrombosis is a relatively rare and often misdiagnosed disease. Knowledge of the clinical picture, methods of treatment, including endovascular treatment, may improve the prognosis and reduce the rate of complications.  Cel: Celem artykułu jest omówienie patofizjologii, obrazu klinicznego,neuroobrazowania zakrzepicy żył mózgowych oraznowoczesnych metod leczenia, z uwzględnieniem leczeniaendowaskularnego.Metody: Na podstawie dostępnego piśmiennictwa przeanalizowanowyniki leczenia farmakologicznego oraz alternatywnegopostępowania endowaskularnego, obecnie wciąż zarezerwowanegodla chorych bez odpowiedzi lub z nieadekwatną odpowiedziąna leczenie farmakologiczne przeciwkrzepliwe.Wyniki: Objawy kliniczne zakrzepicy zatok żylnych są częstoniespecyficzne i wymagają dokładnej diagnostyki neurologiczneji obrazowej. Jest to o tyle istotne, że zakrzepica zatok żylnychwystępuje rzadko, dotyczy głównie młodych osób (średniawieku 35 lat), ale jest obarczona dużym odsetkiem poważnychpowikłań (stanowi do 1% udarów, głównie o etiologii krwotocznej),a w około 13% może prowadzić do zgonu pacjentów.Przedstawiono metody obrazowania, leczenie farmakologicznegooraz alternatywne leczenie z zastosowaniem leczeniatrombolitycznego, a także technik endowaskularnych. Dodatkowozaprezentowano pierwszy w Polsce przypadek leczeniapacjentki z zakrzepicą zatok żylnych, u której po zastosowaniusystemów trombektomii, jako leczenia ratunkowego, uzyskanodobry efekt kliniczny.Wnioski: Zakrzepica zatok żylnych jest schorzeniem stosunkoworzadkim i często źle rozpoznanym. Znajomość obrazu klinicznego,sposobów leczenia, w tym postępowania endowaskularnego,może poprawić rokowanie i zmniejszyć odsetek powikłań

Endovascular management of carotid artery dissections with the use of new generation stents and protection systems

Dissection of the internal carotid artery (ICA) is a rare disease, but in young patients is responsible for about 20% of cerebral events. We presented three different cases of ICA dissection, including one iatrogenic and two spontaneous ones, which were successfully managed endovascularly, with the use of different techniques, different protection devices and stents. In this article, the clinical management and details of procedures were described

Endovascular management of carotid artery dissections with the use of new generation stents and protection systems

Dissection of the internal carotid artery (ICA) is a rare disease, but in young patients is responsible for about 20% of cerebral events. We presented three different cases of ICA dissection, including one iatrogenic and two spontaneous ones, which were successfully managed endovascularly, with the use of different techniques, different protection devices and stents. In this article, the clinical management and details of procedures were described

Early results of endovascular treatment of patients with bilateral stenoses of the internal carotid arteries using proximal protection systems at 30-day follow-up

Background: Although surgical endarterectomy remains the treatment of choice for carotid artery stenosis, carotid artery stenting (CAS) with use of proximal protection systems (PPS) plays an very important role as alternative treatment modality, especially in patients with critical, symptomatic lesions. This study was single-centre study to evaluate the technical and clinical success of proximal protection devices as the first choice for embolic protection in symptomatic and asymptomatic carotid stenosis in patients with bilateral, advanced lesions of carotid arteries (bilateral stenoses or stenosis and occlusion). Methods: This was a post hoc analysis, with 30-day follow up. We analyzed results of treatment of 38 patients who underwent 38 CAS with PPS, 17 such procedures in asymptomatic (group A), and 21 in symptomatic individuals (group B). The GORE® Flow Reversal System (W.L. Gore, Flagstaff, AZ, USA) was used in 2 patients, and the Mo.Ma Ultra device (Medtronic, Minneapolis, MN, USA) in 36 patients. Mean age was 68 7 years, 65% percent of patient were male. Results: There were no procedural and during 30-day follow-up neurologic events. Intolerance of occlusion system occurred in 4 patients (11%) in both groups with any later symptoms. Risk factors of this adverse event comprised: lesions of the left internal carotid lesion and coexisiting diabetes mellitus. Conclusions: CAS in high risk patients with bilateral lesions of carotid arteries with the use of PPS seems to be a relatively very safe procedure

Early results of endovascular treatment of patients with bilateral stenoses of the internal carotid arteries using proximal protection systems at 30-day follow-up

Background Although surgical endarterectomy remains the treatment of choice for carotid artery stenosis, carotid artery stenting (CAS) with use of proximal protection systems (PPS) plays an very important role as alternative treatment modality, especially in patients with critical, symptomatic lesions. This study was single-centre study to evaluate the technical and clinical success of proximal protection devices as the first choice for embolic protection in symptomatic and asymptomatic carotid stenosis in patients with bilateral, advanced lesions of carotid arteries (bilateral stenoses or stenosis and occlusion). Methods This was a post hoc analysis, with 30-day follow up. We analyzed results of treatment of 38 patients who underwent 38 CAS with PPS, 17 such procedures in asymptomatic (group A), and 21 in symptomatic individuals (group B). The GORE® Flow Reversal System (W.L. Gore, Flagstaff, AZ, USA) was used in 2 patients, and the Mo.Ma Ultra device (Medtronic, Minneapolis, MN, USA) in 36 patients. Mean age was 68±7 years, 65% percent of patient were male. Results There were no procedural and during 30-day follow-up neurologic events. Intolerance of occlusion system occurred in 4 patients (11%) in both groups with any later symptoms. Risk factors of this adverse event comprised: lesions of the left internal carotid lesion and coexisiting diabetes mellitus. Conclusions CAS in high risk patients with bilateral lesions of carotid arteries with the use of PPS seems to be a relatively very safe procedure