Acta geneticae medicae et gemellologiae最新文献_第4页

Twin reversed arterial perfusion syndrome. 双动脉灌注逆转综合征。

Acta geneticae medicae et gemellologiae Pub Date : 1998-01-01 DOI: 10.1017/s0001566000000258

W Malinowski, W Wierzba

引用次数: 4

Quantitative estimates of ABH secretion in saliva of human twins. 人类双胞胎唾液中ABH分泌的定量估计。

Acta geneticae medicae et gemellologiae Pub Date : 1998-01-01 DOI: 10.1017/s0001566000000283

K Sharma, S Sharma

引用次数: 1

Breve Storia del Metodo Gemellare 双生法的简史

Acta geneticae medicae et gemellologiae Pub Date : 1997-10-01 DOI: 10.1017/S0001566000000465

F. Lorenzi

引用次数: 0

Come Nacque l'Istituto Mendel 孟德尔研究所是如何开始的

Acta geneticae medicae et gemellologiae Pub Date : 1997-07-01 DOI: 10.1017/S0001566000000532

L. Gedda

{"title":"Come Nacque l'Istituto Mendel","authors":"L. Gedda","doi":"10.1017/S0001566000000532","DOIUrl":"https://doi.org/10.1017/S0001566000000532","url":null,"abstract":"Nelle aule delle Universita di Pavia, Milano e Torino che ho frequentato a motivo dei continui spostamenti della mia famiglia ho trascorso e concluso il mio “curriculum” conseguendo la laurea in Medicina nel 1927 e poi la Libera Docenza in Patologia Speciale Medica nel 1931. Nel mio trasferimento a Roma ebbi l'intuizione della Genetica studiando i caratteri somatici di una coppia di gemelli identici osservandone la concordanza contemporanea caratteristica ed in particolare la concordanza anche quantitativa di polimorfismi ematici, in particolare delle frazioni del glutatione ematico. Le concordanze nei gemelli monozigotici mi aprirono la strada alla genetica. Questo avvenne nel 1933. Nel 1938, ebbi occasione di conoscere Madre Luisa Tincani che avendo fondato un Istituto Superiore parificato per religiose si trovava in difficolta perche avrebbe dovuto rispettare il decreto del Governo fascista sull'insegnamento delle leggi razziali. Ritenni che avrei potuto aggirare l'ostacolo insegnando a quelle religiose le leggi di Mendel che sono il punto di partenza per lo studio di ogni carattere ereditario normale o patologico. Quel mio corso ando benissimo in quanto insegnai non solo le leggi di Mendel ma conobbi la figura di un grande personaggio sacerdote, confessore dei prigionieri nel carcere dello Spielberg e Abate che, nel giardino del convento conduceva le sue esperienze che ebbero come oggetto principale il pisum sativum . cioe il pisello. Mentre andavo approfondendo la mia conoscenza dell'Abate agostiniano Gregorio Mendel mi sorprendevo che a Roma non ci fosse nessuna traccia di lui. Di qui nacque l'idea di creare in Roma un Istituto dedicato alla Genetica che portasse il suo nome anche perche questa scienza aveva, nel frattempo, fatto dei passi giganteschi, per cui progettai di costruire nelle adiacenze della Universita “La Sapienza” un Istituto che portasse il nome di Mendel (Fig. 1).","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"43 1","pages":"129-133"},"PeriodicalIF":0.0,"publicationDate":"1997-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88853149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Balanced X; 22 translocation in a patient with premature ovarian failure. 平衡X;卵巢早衰患者22位易位1例。

Acta geneticae medicae et gemellologiae Pub Date : 1997-01-01 DOI: 10.1017/s0001566000000477

N Banerjee, A Kriplani, D Takkar, K Kucheria

引用次数: 6

Absence of pericentromeric heterochromatin (9qh-) in a patient with bilateral retinoblastoma. 双侧视网膜母细胞瘤患者无中心周围异染色质(9qh-)。

Acta geneticae medicae et gemellologiae Pub Date : 1997-01-01 DOI: 10.1017/s0001566000000428

T A Sivakumaran, S Ghose, H Kumar, U Singha, K Kucheria

{"title":"Absence of pericentromeric heterochromatin (9qh-) in a patient with bilateral retinoblastoma.","authors":"T A Sivakumaran, S Ghose, H Kumar, U Singha, K Kucheria","doi":"10.1017/s0001566000000428","DOIUrl":"https://doi.org/10.1017/s0001566000000428","url":null,"abstract":"The polymorphisms of constitutive heterochromatin regions, present on chromosomes 1, 9, 16 and Y, are inherited in a Mendelian fashion. The C-band heteromorphism has been reported to be associated with various types of cancer. Heterochromatin is considered to play a role in protecting genome against the mutagens. Changes in the quantity and proportion of the different types of satellite DNA might increase the genetic susceptibility in people with heterochromatic variations, which in turn cause chromosome instability and predispose the individual to cancer. We report a case of bilateral retinoblastoma with complete absence of pericentromeric heterochromatin on one of the chromosomes number 9. A similar deficiency of pericentromeric heterochromatin on chromosome number 9 and 16 has been reported in a phenotypically normal individual and a Down syndrome case, respectively. This deficiency was found to be inherited from the father in all the three cases. Complete absence of pericentromeric heterochromatin of chromosome 9 is not being reported in association with cancer syndromes. Further studies are necessary to understand the role of this factor in normals and in those with cancer susceptibility, specially with retinoblastoma and the paternal origin of this deficiency.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"46 4","pages":"193-8"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000428","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20770675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7

Rising trizygotic triplet rates in Japan, 1975-1994. 1975-1994年日本三胞胎率上升。

Acta geneticae medicae et gemellologiae Pub Date : 1997-01-01 DOI: 10.1017/s0001566000000635

Y Imaizumi, K Nonaka

{"title":"Rising trizygotic triplet rates in Japan, 1975-1994.","authors":"Y Imaizumi, K Nonaka","doi":"10.1017/s0001566000000635","DOIUrl":"https://doi.org/10.1017/s0001566000000635","url":null,"abstract":"Zygosity of triplet births in Japan was estimated by Allen's equation with the assumption that the rate of dizygotic (DZ) triplets reflects that of twins. Whereas the DZ triplet rate increased during the period from 1975 to 1994, reflecting the increase in the DZ twinning rate in the period, monozygotic (MZ) triplet rates remained constant from 1975 (28 per million births) to 1994 (23). The trizygotic (TZ) triplet rate gradually increased from 1975 (18) up to 1985 (29), and rapidly increased thereafter to 1994 (202). The higher TZ triplet rate since 1986 is most likely attributed to the higher proportion of mothers treated with ovulation-inducing hormones and partially to in-vitro fertilization in Japan. As for maternal age, MZ triplet rates remained nearly constant for all the maternal age groups except the youngest and the oldest ones. On the other hand, TZ triplet rates increased up to the age group of 30-34 years and decreased thereafter in almost every year. The TZ rate in the age group of 30-34 years slowly increased from 1975 to 1988 (63 per million births) and rapidly increased thereafter (314 in 1994). The TZ rate was statistically significantly higher in the period 1986-1994 than in the period 1975-1985 in each of the nine districts in Japan. Geographical variations in the TZ rates in the latest period have drastically changed from those during the period from 1955-1959 and in 1974.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"46 2","pages":"87-98"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000635","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20416141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 11

Effects of inbreeding on reproductive losses in Kota tribe. 科他部落近亲繁殖对生殖损失的影响。

Acta geneticae medicae et gemellologiae Pub Date : 1997-01-01 DOI: 10.1017/s0001566000000672

T A Sivakumaran, S Karthikeyan

引用次数: 2

Maternal nutrition in twin gestations: weight gain, cravings and aversions, and sources of nutrition advice. 双胎妊娠的母体营养:体重增加，渴望和厌恶，以及营养建议的来源。

Acta geneticae medicae et gemellologiae Pub Date : 1997-01-01 DOI: 10.1017/s000156600000057x

B Luke, L Keith, D Keith

{"title":"Maternal nutrition in twin gestations: weight gain, cravings and aversions, and sources of nutrition advice.","authors":"B Luke, L Keith, D Keith","doi":"10.1017/s000156600000057x","DOIUrl":"https://doi.org/10.1017/s000156600000057x","url":null,"abstract":"Background: Maternal nutrition has a strong influence on singleton and twin birthweight. This study evaluated the association between twin birthweight and maternal pregravid body mass index (BMI), weight gain, and cravings and aversions. Information was also obtained regarding sources of nutrition advice and advised versus actual weight gain.Methods: This study is based on data from interviews with 928 mothers of twins. Univariate analysis included comparisons by source of nutritional advice, birthweight categories, and categories of cravings and aversions. Multiple logistic regression was used to formulate models for mean twin birthweights > 1,500 g and > 2,500 g.Results: Mothers who received their nutrition advice from a registered dietitian had the highest weight gains and the lowest proportion of birthweights < 1,500 g. For mean twin birthweight > 2,500 g, the final model included prematurity, pregravid BMI, and weight gain; for birthweights > 1,500 g, the model additionally included maternal age and aversions.Conclusions: Maternal pregravid BMI and gestational weight gain were shown to be important factors influencing twin birthweight. Nutrition advice, particularly from a registered dietitian, may be vital in assuring adequate weight gain, and therefore better birthweights, for these high-risk pregnancies.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"46 3","pages":"157-66"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s000156600000057x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20563068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 14

Perinatal outcome after leave of absence from work for twin-pregnant women. 双胎孕妇休假后的围产期结果。

Acta geneticae medicae et gemellologiae Pub Date : 1997-01-01 DOI: 10.1017/s0001566000000593

H Rydhstroem, L Bakketeig, P Magnus, L B Knudsen, H Wedel

{"title":"Perinatal outcome after leave of absence from work for twin-pregnant women.","authors":"H Rydhstroem, L Bakketeig, P Magnus, L B Knudsen, H Wedel","doi":"10.1017/s0001566000000593","DOIUrl":"https://doi.org/10.1017/s0001566000000593","url":null,"abstract":"Aim: To evaluate the association between the incidence of leave of absence from work and perinatal outcome for the twin-pregnant woman.Material and methods: A 20.2% sample of all twin-pregnant women between 1982 and 1988 (1,331/6,602) was taken at random from the entire material of twin deliveries in Sweden, archived at the Medical Birth Registry (MBR), National Board of Health and Welfare. For each woman in the sample, information on period(s) and reasons for leave of absence from work during pregnancy was obtained by inquiry to all Regional Health Insurance Offices throughout Sweden. A comparison of perinatal outcome was also made with information from the Danish Fertility Database and the Norwegian Medical Birth Registry.Results: Duration of leave from work increased from 58 days in 1982 to 97 days in 1988 (trend analysis; t = 7.9, p < 0.001). No association was seen between perinatal mortality for twins weighing < 1,500 g and changes in the incidence of leave of absence. The incidence of twins with a birthweight < 1,500 g varied among the three countries, increasing significantly only in Sweden (trend analysis chi 2 = 20.3, p < 0.0001).Conclusion: Although the number of days of leave of absence increased by 60%, there was no obvious association with perinatal mortality for twins weighing < 1,500 g. The incidence of Swedish twins with a birthweight < 1,500 g increased significantly, indicating that the effect of leave of absence from work on perinatal outcome may be less effective than previously thought.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"46 3","pages":"175-83"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000593","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20563070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1