scholarly journals Particularity of genetic counseling in case of a family carriers of structural aberration of chromosome 6

2015 ◽  
Vol 64 (5) ◽  
pp. 106-109
Author(s):  
Aleksey Nikolayevich Volkov ◽  
Rimma Vitalievna Olennikova ◽  
Oksana Ivanovna Ritenkova
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Chromosomal Aberration ◽  
Published Data ◽  
Chromosome 6 ◽  
Two Generations ◽  
Genetic Examination ◽  
First Time ◽  
Structural Aberration

We discuss the case of a family carriers of structural chromosomal aberration del(6)(q24) in two generations. For the first time revealed in 2 year old girl, the aberration has become a reason for family medical and genetic examination, including prenatal cytogenetic diagnosis. The results of clinical and genetic testing of the proband were compared with published data.

Prenatal diagnostics in carrier of pericentric inversion of the chromosome 6

2020 ◽  
Author(s):  
E.I. Golovataya , T.A. Plevako , D.A. Mykytenko
Keyword(s):  
Genetic Testing ◽  
In Vitro Fertilization ◽  
Pericentric Inversion ◽  
Prenatal Diagnostics ◽  
Published Data ◽  
Chromosome 6 ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Cytogenetic Studies

Two cases with different recombinant chromosomes associated with a paternal pericentric inversion inv(6) (p25q25.3) are presented. The data of ultrasound and cytogenetic studies, as well as the results of preimplantation genetic testing of embryos obtained in in vitro fertilization cycles are presented. Based on our own and published data, the possibility of the appearance of recombinant chromosomes in the progeny of inv(6)(p25q25.3) carrier is discussed.

Acanthocnemidae (Coleoptera), a family of beetles new to Russia

2011 ◽  
Vol 20 (1) ◽  
pp. 71-73 ◽  
Author(s):  
Ya.N. Kovalenko
Keyword(s):  
Time Distribution ◽  
Published Data ◽  
First Time

Acanthocnemus nigricans (Hope, 1843), a single recent representative of the beetle family Acanthocnemidae, is reported from Russia for the first time. Distribution, probable ways of dispersion and the published data on the biology of A. nigricans are discussed.

scholarly journals A framework for the evaluation of patients with congenital facial weakness

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Bryn D. Webb ◽  
Irini Manoli ◽  
Elizabeth C. Engle ◽  
Ethylin W. Jabs
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Patient Population ◽  
Clinical Care ◽  
Diagnostic Algorithm ◽  
Accurate Diagnosis ◽  
Facial Weakness ◽  
The Core ◽  
Follow Up Studies

AbstractThere is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.

Identification and management of familial breast cancer in Austria

2017 ◽  
Vol 32 (2) ◽  
Author(s):  
Christian F. Singer ◽  
Yen Y. Tan ◽  
Christine Rappaport
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Familial Breast Cancer ◽  
Prophylactic Surgery ◽  
Management Options ◽  
Counseling And Testing ◽  
Legal Implications

AbstractAimThe aim of this study is to review the legal implications, the technology, the indications and the management of women with a familial background of breast and/or ovarian cancer.MethodsWe have reviewed the literature and national Austrian guidelines to describe the uptake of genetic counseling and the management options offered in Austria.ResultsGenetic testing for theConclusionWhile readily available country-wide counseling has led to an increase in counseling and testing, Austrian legislation mandates “non-directional counseling” resulting in a comparatively low uptake of prophylactic surgery.

scholarly journals Effectiveness of the Interventions Utilized in Genetic Counseling

2014 ◽  
Vol 2014 ◽  
pp. 1-19 ◽  
Author(s):  
Jeeyae Choi ◽  
Hyeoneui Kim
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Information Technologies ◽  
Decision Aids ◽  
Healthcare Providers ◽  
Experimental Studies ◽  
Well Being ◽  
Diagnostic Tools ◽  
Effective Decision ◽  
Single Intervention

Background. Advances in genetic science and biotechnology accumulated huge knowledge of genes and various genetic tests and diagnostic tools for healthcare providers including nurses. Genetic counseling became important to assist patients making decisions about obtaining genetic testing or preventive measures. Method. This review was conducted to describe the counseling topics, various interventions adopted in genetic counseling, and their effectiveness. Experimental studies (N=39) published between 1999 and 2012 were synthesized. Results. The most frequently covered topic was benefits and limitations of genetic testing on breast cancer ovarian and colorectal cancers. Most of researchers focused on evaluating cognitive aspect and psychological well-being. Conclusion. No single intervention was consistently reported to be effective. Decision aids enhanced with information technologies have potential to improve the outcomes of genetic counseling by providing tailored information and facilitating active engagement of patients in information uptake. Clinical Implication. When nurses are familiar with topics and interventions of genetic counseling, they are well positioned to provide genetic/genomic information to the patient and families.

From the Madrasah to the Museum: The Social Life of the “Kietaabs” of Cape Town

2011 ◽  
Vol 38 ◽  
pp. 369-399 ◽  
Author(s):  
Saarah Jappie
Keyword(s):  
South Africa ◽  
Social Life ◽  
Living Room ◽  
Family Tree ◽  
Personal Journey ◽  
The Social ◽  
Arabic Script ◽  
Two Generations ◽  
Place Of Origin ◽  
First Time

Ebrahiem Manuel sits opposite me, about to embark upon his story. His living room is filled with material manifestations of his research: boxes overflowing with books and papers cover his entire sofa, newspapers and articles line the floor, and collages of images and texts hang on the walls and sit in the cabinets. It is clear that he is consumed by his passion for heritage, and his personal journey of discovery. He speaks in an animated, almost theatrical tone, raising and lowering his voice, stressing certain syllables, alive as he tells his story of “the ancient kietaabs.”The journey began in 1997, when Ebrahiem returned to South Africa after years at sea, working as a cook on shipping vessels. Upon his return, he began a quest to learn about his personal heritage, inspired by a dream he had had about his grandfather. This search led him to an oldkietaab, given to him by an elderly aunt. This was not the first time he had come across the old book; he remembered seeing it as a child, amongst other kietaabs, stored out of reach of the children, on top of his grandfather's wardrobe. It was inside this book that a possible key to his ancestors was to be found.This significant find was a range of hand-written inscriptions inside the book, in Arabic, English, and an unknown script. The Arabic script and its corresponding English transliteration read “Imaam Abdul Karriem, son of Imaam Abdul Jaliel, son of Imaam Ismail of Sumbawa.” Here was his family tree, starting from his great-grandfather and leading to two generations before him and, it seemed, their place of origin, the island of Sumbawa in eastern Indonesia. Ebrahiem then decided to go to Indonesia to solve what had become the mystery of “the ancient kietaab.”

Uptake of genetic counseling and testing in a clinic based population of women with breast cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10524-10524
Author(s):  
Alexandra Wehbe ◽  
Mark A. Manning ◽  
Hadeel Assad ◽  
Kristen Purrington ◽  
Michael S. Simon
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
White Women ◽  
Private Insurance ◽  
Stage Iv ◽  
Early Stage Disease ◽  
Cancer Susceptibility Genes ◽  
Counseling And Testing ◽  
Stage Iv Disease

10524 Background: Carriers of pathogenic variants in cancer susceptibility genes have an elevated risk of developing breast, ovarian, and other cancers.We conducted a medical record review to determine the uptake of genetic counseling and testing in a clinic-based population of women with breast cancer. Methods: Medical records of 150 women with breast cancer seen at the Karmanos Cancer Institute between January-December 2018 were reviewed to determine the proportion eligible for genetic testing according to National Comprehensive Cancer Network guidelines. We also assessed genetics referral rates, appointment completion and results of genetic testing. Using chi-square and ANOVA tests, we analyzed the association of demographic and clinical factors with eligibility and referral to genetic counseling. Results: The average age of diagnosis was 57.1 years old, with 68.7% of women diagnosed with stage I-III disease, and 31.3% diagnosed with stage IV disease. There were 91 (60.7%) women who met NCCN criteria for genetic testing, of which 46.2% ultimately underwent genetic testing. Eligible women were more likely to be younger (52.6 vs. 64.0 years old), White (75.0% vs. 54.5%), and have Medicaid (75.0%) or private insurance (72.9%) vs. Medicare (44.8%). Women who met NCCN criteria were 3.5 times more likely to be referred for genetic counseling than those that did not meet eligibility criteria. Women were also more likely to be referred if they had early-stage disease compared to stage IV (67.8% vs. 48.3%), and Medicaid or private insurance compared to Medicare (71.4%, 72.0% and 40.0%, respectively). Of eligible women, 59.3% had a genetic counseling appointment scheduled, and of those, 78.0% attended their appointment. There were no apparent differences in appointment completion based on race with similar percentages of Black and White women completing their appointments (74.0% and 77.0% respectively). Women with stage IV disease were more likely to complete their appointments (83.0%) compared to women with stages I-III (74.0%) and fewer women with Medicare completed their genetic counseling appointment (56.0%) compared to women with Medicaid (83.0%) and women with private insurance (83.0%). Among women who attended their appointment, 95.9% underwent genetic testing. Of women who had genetic testing, 8.5% had a pathogenic variant and 30.4% had a variant of unknown significance. Conclusions: The results of this study indicate that lack of genetic counseling referrals contribute to a gap between the need for and completion of genetic testing. By understanding barriers to genetic counseling and testing, future clinical initiatives could effectively improve accessibility to genetic counseling services.

scholarly journals GENOTOXIC AND CARCINOGENIC STUDIES OF NORGESTREL IN DROSOPHILA MELANOGASTER

2018 ◽  
Vol 11 (10) ◽  
pp. 372
Author(s):  
Abou-eisha A ◽  
Adel E El-din
Keyword(s):  
Somatic Mutation ◽  
Cellular Proliferation ◽  
Research Work ◽  
The Body ◽  
The Other ◽  
Direct Stimulation ◽  
Carcinogenic Activity ◽  
Genetic Examination ◽  
First Time

Objective: The aim of this study was to investigate, for the first time, the possible in vivo genotoxic and carcinogenic activity associated with exposure to norgestrel (NGT) drug through employing the very recently established and adjusted genotoxic and tumorigenic methods in Drosophila melanogaster.Methods: Two in vivo genotoxic test systems were used; one detects the somatic mutation and recombination effects (somatic mutation and recombination test [SMART] wing-spot test) and the other detects the primary DNA damage (the comet test) in the body cells of D. melanogaster. On the other hand, the warts (wts)-based SMART assay is a vital genetic examination in Drosophila used to identify and characterize cancer potential of compounds.Results: Four experimental doses of NGT were used (ranging from 0.24 μM to 16 μM). NGT was found to be non-genotoxic at all tested concentrations even at the highest dose level 16 μM and failed to increase the frequency of tumors in the somatic cells of D. melanogaster.Conclusion: Our results strengthen the hypothesis that steroidal drugs might act through a non-genotoxic carcinogen mechanism where the carcinogenic properties occur by direct stimulation of cellular proliferation through a steroid receptor-mediated mechanism. In addition, the results obtained in this research work may contribute to highlighting the importance of NGT as a potent neuroprotective antioxidant drug.

scholarly journals Knowledge and attitude toward genetic diseases and genetic tests among pre-marriage individuals: A cross-sectional study in northern Iran

2019 ◽  
Author(s):  
Mohammad Bagher Hashemi-Soteh ◽  
Ali Vali Nejad ◽  
Golamreza Ataei ◽  
Dariush Ghasemi ◽  
Rita Siamy
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Genetic Diseases ◽  
Cross Sectional Study ◽  
Or Education ◽  
Genetic Tests ◽  
Northern Iran ◽  
Cross Sectional ◽  
Hereditary Disorders ◽  
Knowledge And Attitude

Background: Genetic testing has been widely introduced for many hereditary disorders. While the attitudes towards these facilities have been evaluated in many countries, there are only a few reports on the knowledge of and the orientation among Iranians. Objective: The current study assesses the attitudes and knowledge of pre-marriage individuals toward the availability and use of genetic tests. Materials and Methods: A comprehensive questionnaire was distributed among 408 marrying individuals. The questions addressed the demographic characteristics along the registration of participant’s knowledge, education, and attitude toward genetic testing. The individuals were divided into three groups based on their knowledge: 1) Scored above 80 to 100 were defined as “good” 2) 60 to 80 as “average” 3) less than 60 as “poor” knowledge. Result: Most participants (86%) believed consanguineous marriages increase the risk of genetic diseases; 82.3% knew that thalassemia is a type of genetic disease, only 33.3% could distinguish prenatal diagnosis (PND) from other laboratory tests. The relationship between the participants’ knowledge and their level of education was significant (r = 0.78, p < 0.001), age (r =–0.16, p < 0.01), and urbanity (p < 0.01). A prominent relationship was observed between the knowledge (r = 0.64, p < 0.001) or education (r = 0.62, p < 0.001) and people’s desire to use the genetic tests before the wedding ceremony. No significant correlations were found between the participant’s attitude and their ages/urbanity. Most of the individuals agreed to arrange a genetic counseling before marriage (0.94%). Conclusion: This study revealed that most individuals were interested in using genetic counseling services and genetic tests before marriage.

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