From data to insights: machine learning empowers prognostic biomarker prediction in Autism

Autism Spectrum Disorder (ASD) poses significant challenges to society and science due to its impact on communication, social interaction, and repetitive behavior patterns in affected children. The Autism and Developmental Disabilities Monitoring (ADDM) Network continuously monitors ASD prevalence and characteristics. In 2020, ASD prevalence was estimated at 1 in 36 children, with higher rates than previous estimates. This study focuses on ongoing ASD research conducted by Erciyes University. Serum samples from 45 ASD patients and 21 unrelated control participants were analyzed to assess the expression of 372 microRNAs (miRNAs). Six miRNAs (miR-19a-3p, miR-361-5p, miR-3613-3p, miR-150-5p, miR-126-3p, and miR-499a-5p) exhibited significant downreg- ulation in all ASD patients compared to healthy controls. The current study endeavors to identify dependable diagnostic biomarkers for ASD, addressing the pressing need for non-invasive, accurate, and cost-effective diagnostic tools, as current methods are subjective and time-intensive. A pivotal discovery in this study is the potential diagnostic value of miR-126-3p, offering the promise of earlier and more accurate ASD diagnoses, potentially leading to improved intervention outcomes. Leveraging machine learning, such as the K-nearest neighbors (KNN) model, presents a promising avenue for precise ASD diagnosis using miRNA biomarkers

An overview of the genetic aspects of hair loss and its connection with nutrition

Hair loss is a widespread concern in dermatology clinics, affecting both men’s and women’s quality of life. Hair loss can have many different causes, which are critical to identify in order to provide appropriate treatment. Hair loss can happen due to many variables, such as genetic factors or predisposition, vitamin and mineral deficiencies, skin problems, hair growth disorders, poor diet, hormonal problems, certain internal diseases, drug use, stress and depression, cosmetic factors, childbirth, and the chemotherapy process. Treatment for hair loss varies depending on the type of alopecia, deficiency, or excess of structures such as vitamins and minerals, and also on hair and skin structure. The Mediterranean diet is characterized by low amounts of saturated fat, animal protein, and high amounts of unsaturated fat, fiber, polyphenols, and antioxidants. The main nutrients found in the Mediterranean Diet are rich in antioxidant, anti-inflammatory components. It also has an important place in hair loss treatment, since recently treatment strategies have included polyphenols and unsaturated oils more and more frequently. The goal of this work was to review published articles examining alopecia and its types, the many micronutrients that affect alopecia, and the role of the Mediterranean diet in alopecia. The literature shows that little is known about hair loss, nutritional factors, and diet, and that the data collected are conflicting. Given these differences, research into the function of diet and nutrition in the treatment of baldness is a dynamic and growing topic

Heterozygous Cc2d1a mice show sex-dependent changes in the Beclin-1/p62 ratio with impaired prefrontal cortex and hippocampal autophagy

Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders characterized by repetitive behaviors, lack of social interaction and communication. CC2D1A is identified in patients as an autism risk gene. Recently, we suggested that heterozygous Cc2d1a mice exhibit impaired autophagy in the hippocampus. We now report the analysis of autophagy markers (Lc3, Beclin and p62) in different regions hippocampus, prefrontal cortex, hypothalamus and cerebellum, with an overall decrease in autophagy and changes in Beclin-1/p62 ratio in the hippocampus. We observed sex-dependent variations in transcripts and protein expression levels. Moreover, our analyses suggest that alterations in autophagy initiated in Cc2d1a heterozygous parents are variably transmitted to offspring, even when the offspring's genotype is wild type. Aberration in the autophagy mechanism may indirectly contribute to induce synapse alteration in the ASD brain

Localization of C04107 marker, CTR1 and Wilson (ATP7B) BAC clones on dog chromosomes

Copper toxicosis (CT) is a common autosomal recessive disorder in dogs. Recently, the CT locus was closely linked to microsatellite marker C04107. Currently, the gene underlying CT is unknown. In contrast to that of many other animals, knowledge regarding the canine karyotype is quite sparse. Except for the X and Y, all the chromosomes are acrocentric. Peripheral blood was used in this study and high-resolution G-banding and FISH were performed on dog chromosomes. In order to evaluate the chromosomal locus of the ATP7B gene (Wilson F4 and Wilson B1), CTR1 and the C04107 marker were isolated from canine BAC clones. Dual-color FISH results showed that BAC clones containing Wilson F4, Wilson B1, C04107 marker and CTR1 were localized on chromosomes 4q23, 22q11, 10q26 and 11q22.2-22.5, respectively

The Impact of Epigenetics on Mesenchymal Stem Cell Biology

Changes in epigenetic marks are known to be important regulatory factors in stem cell fate determination and differentiation. In the past years, the investigation of the epigenetic regulation of stem cell biology has largely focused on embryonic stem cells (ESCs). Contrarily, less is known about the epigenetic control of gene expression during differentiation of adult stem cells (AdSCs). Among AdSCs, mesenchymal stem cells (MSCs) are the most investigated stem cell population because of their enormous potential for therapeutic applications in regenerative medicine and tissue engineering. In this review, we analyze the main studies addressing the epigenetic changes in MSC landscape during in vitro cultivation and replicative senescence, as well as follow osteocyte, chondrocyte, and adipocyte differentiation. In these studies, histone acetylation, DNA methylation, and miRNA expression are among the most investigated phenomena. We describe also epigenetic changes that are associated with in vitro MSC trans-differentiation. Although at the at initial stage, the epigenetics of MSCs promise to have profound implications for stem cell basic and applied research. J. Cell. Physiol. 231: 2393–2401, 2016. © 2016 Wiley Periodicals, Inc

A family with two different chromosomal translocations

The proband was a 22-year-old woman who had two spontaneous abortions in the first trimester of pregnancy. She had a consanguineous marriage with no history of malformation or developmental disorders in the family. Her gynecological examination was normal. Chromosome analysis of the family showed two different katyotypes 46,XYt(1;16)(p22;p13) and 46,XX,t(1;16)(q24;q24) using high-resolution banding (HRB). Proband's family was also examined for chromosome analysis. A t(1;16)(p22;p13) was found in the husband's father and other relatives, and a t(1;16)(q24;q24) translocation in the proband's family. This second tanslocation is not found in her parents. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved

Sister chromatid exchange frequency in inhabitants exposed to asbestos in Turkey

Pleural mesothelioma, lung cancer, pleural calcification and fibrosis have been observed among inhabitants of the villages in Ivriz-Zanapa valley in Turkey. Earlier reports have stated that these endemic pathological conditions are caused by the inhalation of actinolite asbestos, a mineral commonly used indiscriminately to paint the walls and floors of houses. In the present study, 40 inhabitants in Yassikaya village in Ivriz-Zanapa valley and 20 controls were further investigated. The peripheral blood lymphocytes were cultured and harvested at 72 h for sister chromatid exchange (SCE) frequency. Inhabitants had a raised mean SCE rate compared with a control population

Malignant Catatonia

Catatonia is a syndrome characterized by mutism, immobility, negativism, stereotypy, mannerisms, echophenomena, perseveration and passive obedience. The underlying causes can be psychiatric or may be associated with general medical status or neurological diseases. Additionally catatonia has two subtypes as malignant and nonmalignant catatonia. Main symptoms of malignant catatonia are hyperthermia and autonomic symptoms such as tachycardia, tachypnea and hyperhidrosis. It is important to make the diagnosis as early as possible for an appropriate medical treatment. Clinicians should be aware of the fatal outcome of the disease

The anticarcinogenic effect of propolis in human lymphocytes culture

The in vitro anticarcinogenic potential of propolis in human lymphocytes was investigated. Blood samples were obtained from ten healthy males, non-smoking volunteers, which were incubated and exposed to increasing concentrations of propolis (0.01, 0.05, 0.1, 0.2, 0.5, 0.7 and 1.0 ml). The mean micronucleus rates were 1.47 +/- 0.38-4.02 +/- 0.64. Mitotic index rates were between 19.45 +/- 2.22 and 0.28 +/- 0.33. The differences between the control and exposed cells were statistically significant (p <= 0.05). We conclude that exposure to different concentrations of propolis cannot produce a carcinogenic effect in peripheral human lymphocytes in vitro. However, increasing micronucleus (MN) rates showed that propolis could have a carcinogenic effect in high concentrations