The success of a genetic family study depends on the recruitment of a sufficient number of unaffected family members. We present our experiences from interviews performed in two family studies, a genetic family study of prostate cancer (PC) and a medical, anthropological, qualitative study. In the genetic family study, 949 PC patients were contacted, and 29% responded. Response rates were higher (44%) among subjects contacted by health providers participating in the study, compared to only 18% of those contacted by letter. Thirty-six pedigrees were ascertained. On average, each family had 3.3 affected relatives. Average age at time of diagnosis was 61.9 years in the probands. 58% of the families reported additional cancers. Breast cancer was reported in 12 families; colon cancer was the second most reported cancer, followed by lung, stomach, and throat cancers. Beliefs about the inheritance of PC were explored with 20 participants. The parental origin of the proband's PC in each family did not significantly affect participants' beliefs about the inheritance of PC. 95% agreed that PC could be inherited from a father to a son. Participants thought that a mother (n = 12) or daughter of a patient (n = 11) could not give PC to their sons. This misperception of the inheritance of PC can result in (1) an underreporting of PC cases in a kindred, and (2) healthy men underestimating their risk of developing PC when the disease runs in the mother's family. Thus health educators and genetic counselors might consider these findings when teaching patients and their relatives about hereditary PC.
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http://dx.doi.org/10.1016/s1078-1439(01)00132-6 | DOI Listing |
Minerva Obstet Gynecol
January 2025
Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Introduction: Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine-metabolic syndrome mainly characterized by ovarian dysfunction, which is only one manifestation of a more complex syndrome with a significant systemic impact.
Evidence Acquisition: We review scientific literature on the pathophysiology and diagnosis of PCOS evaluating the most relevant data from original articles, reviews and meta-analyses published until June 2024.
Evidence Synthesis: From a pathophysiological point of view, the concurrence of both metabolic aspects, such as insulin resistance and obesity, and hormonal alterations, such as hyperandrogenemia, might produce the most relevant clinical signs and/symptoms of this syndrome, for instance menstrual irregularities, hair loss, acne and hirsutism.
Endocrine
January 2025
Endocrine Unit and Diabetes Centre, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Purpose: Several studies suggest a linkage between PCOS and autoimmunity with a high frequency of chronic autoimmune thyroiditis (AIT) reported in PCOS patients, however, this subject remains controversial. The aim of this study was to investigate the prevalence of AIT in PCOS women and identify parameters that would serve as independent predictors of AIT.
Methods: Two hundred fifty seven (257) PCOS patients according to the NIH criteria and one hundred forty three (143) controls, women with normal menstrual cycles and without clinical or biochemical hyperandrogenism, were recruited for the study.
Adv Biotechnol (Singap)
March 2024
School of Life Sciences, Innovative Center of Molecular Genetics and Evolution, Guangzhou University, Guangzhou, 510006, China.
Raffinose Family Oligosaccharides (RFOs) are a kind of polysaccharide containing D-galactose, and they widely exist in higher plants. Synthesis of RFOs begins with galactinol synthase (GolS; EC 2.4.
View Article and Find Full Text PDFMol Biol Rep
January 2025
Department of Pharmaceutical Control, School of Pharmacy, Mashhad University of Medical Sciences, Mashhad, Iran.
Background: Pseudomonas aeruginosa's inherent and adapted resistance makes this pathogen a serious problem for antimicrobial treatments. Furthermore, its biofilm formation ability is the most critical armor against antimicrobial therapy, and the virulence factors, on the other hand, contribute to fatal infection and other recalcitrant phenotypic characteristics. These capabilities are harmonized through cell-cell communication called Quorum Sensing (QS), which results in gene expression regulation via three major interconnected circuits: las, rhl, and pqs system.
View Article and Find Full Text PDFPlant Cell Rep
January 2025
CSIR-Central Institute of Medicinal and Aromatic Plants, P.O. CIMAP, Lucknow, 226015, Uttar Pradesh, India.
Foliar-applied Zn on Catharanthus roseus enhanced production of vindoline, the main impediment precursor for costly anticancer bisindoles. A leaf-abundant CrZIP was characterized for likely role in modulating vindoline metabolism. The leaf-localized Catharanthus roseus alkaloid, vindoline, is the major impediment precursor in the production of scanty and expensive anticancer bisindoles, vinblastine and vincristine.
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