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Kehaväline viljastamine Eestis: efektiivsus ja kulud

Taust ja eesmärgid. Võrreldes paljude teiste Euroopa riikidega on Eestis väga vähe seaduslikke piiranguid kehavälise viljastamise (in vitro fertilization, IVF) teostamiseks ja Eestis hüvitatakse naisele suures mahus viljatusravi kulud. Samas on Eestis seni kogutud andmed kehavälise viljastamise abil sündinud laste arvu kohta vastukäivad ning andmed maksumaksja raha kulutuste kohta kehavälisele viljastamisele puudulikud. Analüüsi eesmärk oli anda ülevaade kehavälise viljastamise efektiivsusest ja kuludest Eestis. Metoodika. Efektiivsuse ja kulude analüüsimiseks seoti omavahel Eesti Haigekassast ja Eesti meditsiinilisest sünniregistrist pärinevad andmed. Tulemused. Aastatel 2005–2011 läbis Eestis kokku 4445 naist IVF-protseduuri ja/või embrüosiirdamise protseduuri, mida rahastati haigekassa kaudu ja riigieelarvest. Selle tulemus oli 3278 rasedust ja 2274 sünnitust, s.t rasestumismäär oli 41% ja sünnitamismäär 29%. Kehavälise viljastamise efektiivsus vähenes naise vanuse kasvades. Kogukulude analüüsil võeti arvesse lisaks IVFile ka rasedus- ja sünnituskulusid ning lapse sünnijärgseid ravikulusid. Kõige suurema osa (66%) kogukuludest moodustasid protseduuride ja ravimite kulud, mis olid kokku 15,3 miljonit eurot. Rasedusaegsed kulud moodustasid kogukuludest 11% (2,6 miljonit eurot), sünnitusega seotud kulud 8% (1,9 miljonit) ja sündinud laste kolme esimese elukuu ravikulud 15% (3,4 miljonit). Mitmike sünni korral olid kulud lapse kohta suuremad kui üksiksünnituse korral, sest enamik IVF-mitmikest sündis enneaegsena. Järeldused. Aastatel 2005–2011 läbis Eestis kehavälise viljastamise protseduuri 4445 naist, kelle protseduuride ja ravimite eest tasuti Eesti Haigekassa eelarvest ja riigieelarvest. Selle tulemusel sündis 2861 last ehk 2,6% kõikidest selle perioodi elussündinutest. Lisades protseduuride ja ravimite kuludele raseduse, sünnituse ja lapse kolme esimese elukuu raviarved, kulus ravikindlustusrahast ja riigieelarvest neil aastatel ühe IVF-lapse sünniks keskmiselt 8409 eurot. Eestis aastatel 2005–2011 tehtud kehavälise viljastamise protseduuride efektiivsus – keskmine rasestumismäär 41% ja keskmine sünnitamismäär 29% – on võrreldes teiste Euroopa riikidega väga heal tasemel. Eesti Arst 2014; 93(3):143–15

Novel associations in disorders of sex development: findings from the I-DSD registry

Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report the range of associated conditions identified in the international DSD (I-DSD) Registry.<p></p> Design, Setting, and Patients: Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician.<p></p> Results: Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected androgen insensitivity syndrome, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations.<p></p> Conclusions: Over a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person.<p></p&gt

Familial deletion 18p syndrome: case report

BACKGROUND: Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases. CASE PRESENTATION: The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18)(p11.2). Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p) are fertile and seem to have a normal miscarriage rate. CONCLUSION: Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported

Turner syndrome and the evolution of human sexual dimorphism

Turner syndrome is caused by loss of all or part of an X chromosome in females. A series of recent studies has characterized phenotypic differences between Turner females retaining the intact maternally inherited versus paternally inherited X chromosome, which have been interpreted as evidence for effects of X-linked imprinted genes. In this study I demonstrate that the differences between Turner females with a maternal X and a paternal X broadly parallel the differences between males and normal females for a large suite of traits, including lipid profile and visceral fat, response to growth hormone, sensorineural hearing loss, congenital heart and kidney malformations, neuroanatomy (sizes of the cerebellum, hippocampus, caudate nuclei and superior temporal gyrus), and aspects of cognition. This pattern indicates that diverse aspects of human sex differences are mediated in part by X-linked genes, via genomic imprinting of such genes, higher rates of mosaicism in Turner females with an intact X chromosome of paternal origin, karyotypic differences between Turner females with a maternal versus paternal X chromosome, or some combination of these phenomena. Determining the relative contributions of genomic imprinting, karyotype and mosaicism to variation in Turner syndrome phenotypes has important implications for both clinical treatment of individuals with this syndrome, and hypotheses for the evolution and development of human sexual dimorphism

Pengaruh Poc Nasa Dan Pupuk TSP Terhadap Pertumbuhan Serta Produksi Tanaman Terung Ungu (Solanum Melongena L.)

This research has been carried out in the Experimental Garden of the Faculty of Agriculture, Riau Islamic University, Jalan Kaharuddin Nasution Km 11, Air Dingin Village, Bukit Raya District, Pekanbaru City. This research lasted for 4 months from April to July 2019. The purpose of this study was to determine the effect of the interaction and main POC Nasa and TSP fertilizer on the growth and production of purple eggplant. This research uses factorial completely randomized design (CRD). The first factor is POC Nasa (N) consisting of 4 levels (N0, N1, N2, N3) and the second factor is TSP fertilizer (P) consisting of 4 levels (P0, P1, P2, P3). So that obtained 16 treatment combinations with 3 replications. The parameters observed were plant height, flowering age, age of harvest, number of fruits per plant, long fruit length, weight of fruit per fruit, weight of fruit per plant, and number of remaining fruit. The results of this study indicate that the influence of the interaction of POC Nasa and TSP fertilizer has a significant effect on the length of the longest fruit, fruit weight per fruit, and weight of fruit per plant. The best treatment resulted in the treatment of POC Nasa 6 cc / L water and fertilizer TSP 10 g / plant. The main influence of POC Nasa gives a significant effect on plant height, harvest age, number of fruits per plant, longest fruit length, fruit weight per fruit, weight of fruit per plant, and number of remaining fruit. The best treatment of POC Nasa 6 cc / L water. The main effect of TSP fertilizer has a significant influence on plant height, flowering age, age of harvest, number of fruits per plant, longest fruit length, fruit weight per fruit, and the number of remaining fruit. The best treatment of 15 g TSP fertilizer / plant

Etude de 15 cas d'anomalies du chromosome X (corrélation entre les aspects cytogéniques et les phénotypes observés)

CHATENAY M.-PARIS 11-BU Pharma. (920192101) / SudocSudocFranceF

Examination of Personality Characteristics of Theater Actors in the Framework of the Five Factor Model and Construction of their Personality

Birçok çalışmada tiyatro oyuncuları ile oyuncu olmayan kişiler arasında kişilik özellikleri açısından farklılıklar olduğu bildirilmiştir. Bu çalışmanın da amacı Beş Faktör Kişilik modeli çerçevesinde tiyatro oyuncularının kişilik özelliklerinin incelenmesi ve meslek profillerinin çıkarılmasıdır. Çalışmaya 88 tiyatro bölümü öğrencisi, 156 da profesyonel tiyatro oyuncusu Beş Faktör Kişilik Envanteri’ni doldurarak katılmıştır. Veriler iki boyutta incelenmiştir. Önce her iki grup kişilik özellikleri açısından birbiri ile karşılaştırılmıştır. Daha sonra ise her iki grubun verisi ölçeğin norm gruplarının verisi ile karşılaştırılmıştır. Sonuçlara göre profesyonel tiyatro oyuncularının, tiyatro öğrencilerinden düzenlilik, kurallara bağlılık ve sorumluluk/kararlılık alt boyutlarında farklılık taşıdıkları belirlenmiştir. Profesyonel tiyatro oyuncularının daha düzenli, sorumlu ve kararlı oldukları, tiyatro öğrencilerinin de profesyonel tiyatro oyuncularından daha kurallara bağlı oldukları belirlenmiştir. Norm grupları ile yapılan karşılaştırmada ise tiyatro öğrencilerinin ölçeğin öğrenci norm grubundan canlılık, girişkenlik, hoşgörü, uzlaşma, yumuşak kalplilik/ elseverlik, kurallara bağlılık, sorumluluk/kararlılık, heyecan arama, duygusal değişkenlik, analitik düşünme, duyarlılık, yeniliğe açıklık boyutlarında ve dışadönüklük, özdenetim/sorumluluk, gelişime açıklık faktörlerinde; profesyonel tiyatro oyuncularının ise ölçeğin yetişkin norm grubundan canlılık, girişkenlik, etkileşim, hoşgörü, sakinlik, uzlaşma, yumuşak kalplilik/elseverlik, düzenlilik, kurallara bağlılık, heyecan arama, duygusal değişkenlik, analitik düşünme, duyarlılık, yeniliğe açıklık boyutlarında ve dışadönüklük, özenetim/sorumluluk, duygusal tutarsızlık, gelişime açıklık faktörlerinde istatistiksel düzeyde anlamlı farklılık taşıdıkları görülmüştür.The purpose of this study is to examine the personality characteristics of the subjects who are studying drama and professional players within the framework of Five Factor Model. Eighty eight drama students and 156 professional actors who completed The Five Factor Personality Inventory participated in this study. The data was analyzed in two phases. The data related to both groups, consisting of drama students and professional actors, were examined then the results were compared with the normative sample of the inventory. Although the overall results showed that there were no differences between the student and the professional group according to the factors of the inventory, there were some differences on the sub-dimensions of the inventory. While professionals scored higher on the orderliness and conscientiousness/determination, and stability dimensions than did the students, students scored higher on the compliance with the rules than did the professionals. The comparison of the results of the subjects with the normative groups showed that the drama student group differed significantly from the student normative sample of the inventory on the dimensions of liveliness, assertiveness, tolerance, reconciliation, altruism, compliance with the rules, conscientiousness/determination, excitement seeking, emotional lability, analytical thinking, sensitivity, and openness to experience and on the factors of extroversion, self-control/conscientiousness, and openness to experience. While the professional actor group differed significantly from the adult normative sample on the dimensions of liveliness, assertiveness, interaction, tolerance, calmness, reconciliation, altruism, orderliness, compliance with the rules, excitement-seeking, emotional lability, analytical thinking, sensitivity, and openness to experience, and on the factors of extroversion, self-control/conscientiousness, emotional instability, and openness to experience