Journal of Health and Rehabilitation Sciences

Analysis of anamnestic data from genetic counseling of couples with history of repeated spontaneous abortions from Split Croatia

2024-08-05T01:02:56+02:00

Aim: To show the importance of how important are in the genetic counselling process of spontaneous abortions, including careful and detailed analyses of anamnestic data and drawing a family tree.
Methods: We included 451 couples with normal karyotypes and treated in the Genetic Counseling Unit due to one or more unsuccessful pregnancies from 1985 to 2010.
Results: Second-generation relatives of both partners had two times higher number of SA than the general popu-lation. Almost one third of participans (men and women) were historically exposed to some harmful agent. The "motherhood age effect" is not present, male partners in the group with 3 spontaneous abortions (SA) were older. Both men and women had previous urinary and/or genital infections more often than in the general population. There was no significant correlation between occupation and SA and the frequency of urogenital infections with the type of occupation. Women were affected by computer work or exposure to food and chemicals, while men mostly by heat and cold exposure. Harmful habits predominant in women was smoking and alcohol by men.
Conclusion: The research showed how much important information could be obtained for further investigation of the causes of a complex multifactorial process such as recurrent spontaneous abortions.

Scientific publishing in the Republic of Macedonia analysed with artificial intelligence

2024-06-11T07:28:44+02:00

Aim: The aim of this study was to present current scientific publishing activity of the Republic of Macedonia analysed with artificial intelligence.

Methods: This analysis was performed with the artificial intelligence platform www.wizdom.ai during March 18, 2024.

Results: In the Republic of Macedonia, in 2023 were published 770 publications with closed, 432 with bronze, 200 with hybrid, 805 with gold, and 61 with green access. In the same year, a total number of 27,418 citations were recorded, with the biggest number of collaborations with United States. Total number of researchers that have published articles in 2023 was 2,550, with local co-authors of 2,268, and with international co-authors of 1,027.

Conclusion: The power of artificial intelligence for analysis of scientific publishing is very sensitive and can be used with precautions because of the limited electronic availability of scientific data, as well as of the different inclusion and exclusion criteria for analysis.

Drug discovery and development and precision medicine for Autism Spectrum Disorder – current state

2024-06-16T07:57:08+02:00

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder/condition. Medical interven-tions for this condition are mainly pharmacological, and generally not tailored to precisely address the specific underlying issues in each ASD individual. Despite the extensive efforts to develop new or repurpose existing drugs over the decades, the range of medications that address this condition remains very limited.
Findings: Progress in drug development has been hindered by research design limitations and the complex, het-erogeneous nature of the ASD itself. Therefore, this article first discusses preclinical and clinical studies aimed at finding effective treatments, highlighting their shortcomings and potential solutions. It then delves into the com-plexity of ASD and the implications for drug development, such as its phenotypic and genetic heterogeneity and multifactorial etiology, and unclear diagnostic boundaries with other developmental disorders.
Exploiting the advantages of new technologies, current autism treatment research is steering towards prioritizing genetic and molecular data over phenotypic data, emphasizing the need for biologically meaningful and quantifi-able biomarkers to identify biologically defined and clinically actionable subgroups within ASD, amenable to specific treatments.
The critical role of precision medicine is underscored as a comprehensive, fundamental approach to biology-based drug development and personalized treatments. Achieving this goal requires an integrated analysis of multilayered data, utilizing multi-omics, systems biology, and machine learning approaches.
Conclusion: Lastly, the article provides a brief overview of current initiatives and private sector efforts focusing on precision medicine treatments for neurodevelopmental disorders, highlighting their progress in developing drugs through this innovative approach.

Association between Autism Spectrum Disorder and Cancer - a Review from the Literature

2024-03-05T05:04:17+01:00

Introduction: Autism spectrum disorder (ASD) is neurodevelopmental polygenic disorder with strong genetic component. In adult period, it is associated with many chronic diseases including diabetes, hypertension, cardiovascular disease, and cancer.

The aim of this article is to show possible connection between autism spectrum disorder and some kinds of cancers, and to show possible pathways for prevention and treatment.

Methodology: The PubMed and Google Scholar databases were searched using the keywords: autism spectrum disorder, genetics, cancer, prevention and treatment.

Results: Autism spectrum disorder is associated with high rates of genomic aberrations, including chromosomal rearrangements and de novo copy-number variations. Autism and cancer share 43 risk genes, suggesting that common mechanisms underlying the functions of some of these genes could conceivably be leveraged to develop therapies not just for cancer but for autism as well. Pleiotropy, whereby gene variants exert effects on multiple phenotypes, has been the source of increasing research attention with ASD and cancer.

Germline loss-of-function PTEN mutations increase the rate of benign and malignant tumors and also manifest as ASD and macrocephaly. Mutations in TSC1 and TSC2 genes cause tuberous sclerosis complex which is characterized by cortical tubers, and neurocognitive phenotypes including epilepsy, ASD, and intellectual disability (ID).

Conclusion: There is may be an association between autism and specific forms of cancer. Further epidemiologic research in large populations is needed to elucidate the association between autism and cancer and identify explanatory factors. Approved drugs targeting oncogenic pathways might also have therapeutic value for treating autism spectrum disorder.

Split protocol for next successful pregnancy after spontaneous abortions and pregnancy loss in Genetic Counselling Unit Split

2023-11-14T22:49:02+01:00

Aim: Spontaneous abortion, early neonatal death and stillbirth are tragic events for the whole family. Sporadic abortion in the general population occurs at 12-15%, before the 12th weeks. The percentage increases with the age of the mother, up to 23%. Successful next pregnancy is the goal.

Methods: In a retrospective analysis from 1985 to 2010, 451 couples with one or more SAs before the 16th week of pregnancy were examined at the Genetic Counselling Unit, Pediatrics Clinics, UH Split.

Results: The highest number of SAs was recorded in the period 8-10^th weeks of gestation. Furthermore, 69% of women and 66% of men had a positive family history (especially in a second-generation relative) for SA or sterility. Adverse habits (smoking, alcohol consumption) and exposure to pollutants and / or teratogens (chemicals, exposure to excessive heat or cold) did not affect the incidence of SA. Examination of serological signs (IgM + and EA +) in the presence of reactivation of infection with viruses most commonly revealed reactivation to viruses of the genus herpes viride such as HSV1, CMV and EBV, more often in women. Sideropenia or anemia with very low ferritin values were found in 40% of tested women.

Conclusion: The theory of “two hits” (multifactorial inheritance) is still in the basis of SA. Under these circumstances, it is possible to achieve a normal pregnancy as needed with prenatal or preimplantation diagnostics. If there is a need for assisted fertilisation, the same procedure should be followed.