Search results for: genetic blood disorders

Authors: Norezzine Abdelaziz, Rebouh Nazih Yacer, Kezimana Parfait, Parpura D. I., Gadzhikurbanov A., Anastasios Dranidis

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The genetic variation of Shvicezebuvides cattle from three different farms in the Tajikistan Republic was studied using 10 microsatellite markers (SSR). The trials were laid out using a multi- locus analysis system for the analysis of cattle microsatellite locus. An estimated genetic variability of the examined livestock is given in the article. The results of our SSR analysis as well as the numbers and frequencies of common alleles in studied samples, we established a high genetic similarity of studied samples. These results can also be furthermore useful in the decision making for preservation and rational genetic resources usage of the Tajik Shvicezebuvides cattle.

Keywords: genetic characteristic, frequencies of the occurrence alleles, microsatellite markers, Swiss cattle

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Authors: Hassan Shahmiri Barzoki

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Background: Posttraumatic stress disorder (PTSD) is an abnormal physiologic and psychological reaction in person with severe traumatic history. In recent studies, the relationship between PTSD and some other disease apparently unrelated to psychological situations, such as cardiovascular diseases, diabetes, and metabolic syndrome, has been revealed. Thus, the aim of this study was to survey the prevalence of metabolic syndrome and mental health in PTSD patients. Methods: The research design was retrospective cohort study. Subjects were consisted of 142 Iran-Iraq war veterans with PTSD (age: 40-60 years), and the control group was consisted of 153 veterans without PTSD. Data was collected using questionnaires, physical exams and laboratory tests. Results: Prevalence of metabolic syndrome was 45.1%in PTSD group and 17% in control group. In addition, blood pressure, triglyceride and fasting blood sugar in PTSD group were significantly higher than control group (p<0.05). Also, PTSD patients had significant high rates of psychiatric disorders. Conclusion: PTSD patients are more prone to metabolic syndrome and psychiatric disorders than control group.

Keywords: mental health, metabolic syndrome, post traumatic stress disorder, patient

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Authors: Francisco Dos Santos, Diogo Fonseca-Pereira, Sílvia Arroz-Madeira, Henrique Veiga-Fernandes

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Haematopoiesis is a developmental process that generates all blood cell lineages in health and disease. This relies on quiescent haematopoietic stem cells (HSCs) that are able to differentiate, self renew and expand upon physiological demand. HSCs have great interest in regenerative medicine, including haematological malignancies, immunodeficiencies and metabolic disorders. However, the limited yield from existing HSC sources drives the global need for reliable techniques to expand harvested HSCs at high quality and sufficient quantities. With the extensive use of cord blood progenitors for clinical applications, there is a demand for a safe and efficient expansion protocol that is able to overcome the limitations of the cord blood as a source of HSC. StemCell2MAXTM developed a technology that enhances the survival, proliferation and transplantation efficiency of HSC, leading the way to a more widespread use of HSC for research and clinical purposes. StemCell2MAXTM MIX is a solution that improves HSC expansion up to 20x, while preserving stemness, when compared to state-of-the-art. In a recent study by a leading cord blood bank, StemCell2MAX MIX was shown to support a selective 100-fold expansion of CD34+ Hematopoietic Stem and Progenitor Cells (when compared to a 10-fold expansion of Total Nucleated Cells), while maintaining their multipotent differentiative potential as assessed by CFU assays. The technology developed by StemCell2MAXTM opens new horizons for the usage of expanded hematopoietic progenitors for both research purposes (including quality and functional assays in Cord Blood Banks) and clinical applications.

Keywords: cord blood, expansion, hematopoietic stem cell, transplantation

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Authors: H. Merhni, A. Sbiti, I. Ratbi, A. Sefiani

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The proximal spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterized by progressive muscle weakness due to the degeneration and loss of anterior motor neurons of the spinal cord. Depending on the age of onset of symptoms and their evolution, four types of SMA, varying in severity, result in a mutations of the SMN gene (survival of Motor neuron). We have analyzed the DNA of 295 patients referred to our genetic counseling; since January 1996 until October 2014; for suspected SMA. The homozygous deletion of exon 7 of the SMN gene was found in 133 patients; of which, 40.6% were born to consanguineous parents. In countries like Morocco, where the frequency of heterozygotes for SMA is high, genetic testing should be offered as first-line and, after careful clinical assessment, especially in newborns and infants with congenital hypotonia unexplained and prognosis compromise. The molecular diagnosis of SMA allows a quick and certainly diagnosis, provide adequate genetic counseling for families at risk and suggest, for couples who want prenatal diagnosis. The analysis of the SMN gene is a perfect example of genetic testing with an excellent cost/benefit ratio that can be of great interest in public health, especially in low-income countries. We emphasize in this work for the benefit of the generalization of molecular diagnosis of SMA by the technique of PCR-enzymatic digestion in other centers in Morocco.

Keywords: Exon7, PCR-digestion, SMA, SMN gene

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Authors: Priyanka Sharma, Niti Puri

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Anemia develops when blood lacks enough healthy erythrocytes. Past studies indicated that anemia, inflammatory process, and oxidative stress are interconnected. Erythrocytes are continuously exposed to reactive oxygen species (ROS) during circulation, due to normal aerobic cellular metabolism and also pathology of inflammatory diseases. Systemic mastocytosis and genetic depletion of mast cells have been shown to affect anaemia. In the present study, we attempted to reveal whether mast cells have a direct role in clearance or erythrophagocytosis of normal or oxidatively damaged erythrocytes. Murine erythrocytes were treated with tert-butyl hydroperoxidase (t-BHP), an agent that induces oxidative damage and mimics in vivo oxidative stress. Normal and oxidatively damaged erythrocytes were labeled with carboxyfluorescein succinimidyl ester (CFSE) to track erythrophagocytosis. We show, for the first time, direct erythrophagocytosis of oxidatively damaged erythrocytes in vitro by RBL-2H3 mast cells as well as in vivo by murine peritoneal mast cells. Also, activated mast cells, as may be present in inflammatory conditions, showed a significant increase in the uptake of oxidatively damaged erythrocytes than resting mast cells. This suggests the involvement of mast cells in erythrocyte clearance during oxidative stress or inflammatory disorders. Partial inhibition of phagocytosis by various inhibitors indicated that this process may be controlled by several pathways. Hence, our study provides important evidence for involvement of mast cells in severe anemia due to inflammation and oxidative stress and might be helpful to circumvent the adverse anemic disorders.

Keywords: mast cells, anemia, erythrophagocytosis, oxidatively damaged erythrocytes

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Authors: Rim Frikha, Nouha Bouayed, Afifa Sellami, Nozha Chakroun, Salima Douad, Leila Keskes, Tarek Rebai

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Recurrent pregnancy loss (RPL), classically defined as the occurrence of two or more failed pregnancies, is a serious reproductive problem, in which, chromosomal rearrangements in either carrier are a major cause; mainly the chromosome aneuploidy. This study was conducted to determine the frequency and contribution of X-chromosome aneuploidy in recurrent pregnancy loss. A retrospective study was carried out among 100 couples with more than 2 miscarriages, referred to our genetic counseling. In all the cases the detailed reproductive histories were taken. Chromosomal analysis was performed using RHG banding in peripheral blood. Of a total of 100 couples; 3 patients with a detected X-chromosome aneuploidy were identified with an overall frequency of 3%. Chromosome abnormalities are as below: a Turner syndrome with 45, X/46, XX mosaicism, a 47, XXX, and a Klinefelter syndrome with 46, XY/47, XXY. These data show a high incidence of X-chromosome aneuploidy; mainly with mosaicism; in RPL. Thus, couples with such chromosomal abnormality should be referred to a clinical geneticist with whom the option of pre-implantation genetic diagnosis in subsequent pregnancy should be discussed.

Keywords: aneuploidy, genetic testing, recurrent pregnancy loss, X-chromosome

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Authors: Elly Usman, S. Dante, Diah Purnamasari

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Type 2 diabetes mellitus ( T2DM ) is a syndrome characterized by a state of increased blood sugar levels due to chronic disorders of insulin secretion by pancreatic beta cells and insulin action or a combination of both. The organic cation transporter 1, encoded by the SLC22A1 gene, responsible for the uptake of the antihyperglycemic drug, metformin, in the hepatocyte. We assessed whether a genetic variation in the SLC22A1 gene was associated with the glucose - lowering effect of metformin. Method case study research design. Samples are children with type 2 diabetes mellitus who meet the inclusion criteria. The results proportions SLC22A1 gene polymorphisms in children with diabetes mellitus type 2 amounted to 52.04 % at position 400T/C, there is one heterozygous and one at position 595T/C Conclusion The presence of SLC22A1 gene polymorphisms in children with diabetes mellitus type 2.

Keywords: diabetes Mellitus type 2, metformin, organic cation transporter 1, pharmacogenomics

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Authors: Barbara Gawda

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The study attempts to show the relationship between the structure of love by Sternberg and personality disorder traits. People with personality disorders experience dysfunctional emotionality. They manifest difficulties in experiencing love and closeness. Their relationships are marked by ambivalence and conflicts, e.g., as in borderline and narcissistic personality disorders. Considering love as a crucial human feeling, the study was planned to describe the associations between intimacy, passion, commitment, and personality disorder traits in a community sample. A sample of 194 participants was investigated (men and women in similar age and education levels). The following techniques were used: the SCID-II to assess personality disorders’ traits and the Triangular Love Scale by Sternberg to assess the components of love. Results show there are significant negative correlations between intimacy, commitment and personality disorders traits. Many personality disorders are associated with decreasing of intimacy and commitment, whereas passion was not associated with personality disorders’ traits. Results confirm that emotional impairments in personality disorders elicit conflicts and problems in relationships based on love and closeness.

Keywords: intimacy, commitment, love, passion, personality disorders

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Authors: Prima Khairunisa, Febriana Tri Kusumawati, Endah Luthfiana

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Background: Hypertension in elderly, caused by cardiovascular system cannot work normally, because the valves thickened and inelastic blood vessels. It causes vasoconstriction of the blood vessels. Hypertension exercise, increase cardiovascular function and the elasticity of the blood vessels. While slow deep breathing helps the body and mind feel relax. Combination both of them will decrease the blood pressure. Objective: To know the effect of hypertension exercise and slow deep breathing combination to blood pressure in elderly. Method: The study conducted with one group pre-post test experimental design. The samples were 10 elderly both male and female in a Village in Semarang, Central Java, Indonesia. The tool was manual sphygmomanometer to measure blood pressure. Result: Based on paired t-test between hypertension exercise and slow deep breathing with systole blood pressure showed sig (2-tailed) was 0.045, while paired t-test between hypertension exercise hypertension exercise and slow deep breathing with diastole blood pressure showed sig (2-tailed) was 0,343. The changes of systole blood pressure were 127.5 mmHg, and diastole blood pressure was 80 mmHg. Systole blood pressure decreases significantly because the average of systole blood pressure before implementation was 135-160 mmHg. While diastole blood pressure was not decreased significantly. It was influenced by the average of diastole blood pressure before implementation of hypertension exercise was not too high. It was between 80- 90 mmHg. Conclusion: There was an effect of hypertension exercise and slow deep breathing combination to the blood pressure in elderly after 6 times implementations.

Keywords: hypertension exercise, slow deep breathing, elderly, blood pressure

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Authors: Sun Tao, Lou Liang, Tan Xing Haw Marvin, Gu Yuandong Alex

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Patients with blood clots in their brains can experience problems with their vision or speech, seizures and general weakness. To treat blood clots, clinicians presently have two options. The first involves drug therapy to thin the blood and thus reduce the clot. The second choice is to invasively remove the clot using a plastic tube called a catheter. Both approaches carry a high risk of bleeding, and invasive procedures, such as catheter intervention, can also damage the blood vessel wall and cause infection. Ultrasonic treatment as a potential alternative therapy to break down clots is attracting growing interests due to the reduced adverse effects. To demonstrate the concept, in this investigation a microfabricated ultrasonic device was electrically packaged with printed circuit board to treat healthy human blood. The red blood cells could be broken down after 3-hour ultrasonic treatment.

Keywords: microfabrication, blood clot, ultrasonic thrombolysis device, ultrasonic device

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Authors: Mohammed Jamal Al-Mansor, Kok Beng Gan

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This paper develops an optimized embedding of payload in medical image by using genetic optimization. The goal is to preserve region of interest from being distorted because of the watermark. By using this developed system there is no need of manual defining of region of interest through experts as the system will apply the genetic optimization to select the parts of image that can carry the watermark with guaranteeing less distortion. The experimental results assure that genetic based optimization is useful for performing steganography with less mean square error percentage.

Keywords: AES, DWT, genetic algorithm, watermarking

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Authors: Mustafa Yorgancılar, Emine Atalay, Necdet Akgün, Ali Topal

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In this study, polymerase chain reaction based Inter-simple sequence repeat (ISSR) from DNA fingerprinting techniques were used to investigate the genetic relationships among barley crossbreed genotypes in Turkey. It is important that selection based on the genetic base in breeding programs via ISSR, in terms of breeding time. 14 ISSR primers generated a total of 97 bands, of which 81 (83.35%) were polymorphic. The highest total resolution power (RP) value was obtained from the F2 (0.53) and M16 (0.51) primers. According to the ISSR result, the genetic similarity index changed between 0.64–095; Lane 3 with Line 6 genotypes were the closest, while Line 36 were the most distant ones. The ISSR markers were found to be promising for assessing genetic diversity in barley crossbreed genotypes.

Keywords: barley, crossbreed, genetic similarity, ISSR

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Authors: Naouelle Azzag, Nadia Haddad, Benoit Durand, Elisabeth Petit, Ali Ammouche, Bruno Chomel, Henri J. Boulouis

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Bartonella henselae is a small, gram negative, arthropod-borne bacterium that has been shown to cause multiple clinical manifestations in humans including cat scratch disease, bacillary angiomatosis, endocarditis, and bacteremia. In this research, we report the results of a cross sectional study of Bartonella henselae bacteremia in stray cats from Algiers. Whole blood of 227 stray cats from Algiers was tested for the presence of Bartonella species by culture and for the evaluation of the genetic diversity of B. henselae strains by multi-locus variable number of tandem repeats assay (MLVA). Bacteremia prevalence was 17% and only B. henselae was identified. Type I was the predominant type (64%). MLVA typing of 259 strains from 30 bacteremic cats revealed 52 different profiles. 51 of these profiles were specific to Algerian cats/identified for the first time. 20/30 cats (67%) harbored 2 to 7 MLVA profiles simultaneously. The similarity of MLVA profiles obtained from the same cat, neighbor-joining clustering and structure-neighbor clustering showed that such a diversity likely results from two different mechanisms occurring either independently or simultaneously independent infections and genetic drift from a primary strain.

Keywords: Bartonella, cat, MLVA, genetic

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Authors: Farman Ali, Asif Mahmood

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The utilization of genetic markers in prostate cancer management represents a significant advance in personalized medicine, offering the potential for more precise diagnosis and tailored treatment strategies. This paper explores the pivotal role of genetic markers in the diagnosis and treatment of prostate cancer, emphasizing their contribution to the identification of individual risk profiles, tumor aggressiveness, and response to therapy. By integrating current research findings, we discuss the application of genetic markers in developing targeted therapies and the implications for patient outcomes. Despite the promising advancements, challenges such as accessibility, cost, and the need for further validation in diverse populations remain. The paper concludes with an outlook on future directions, underscoring the importance of genetic markers in revolutionizing prostate cancer care.

Keywords: prostate cancer, genetic markers, personalized medicine, BRCA1 and BRCA2

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Authors: Ha T. T. Ly, Truc B. Truc, Hai N. Truong, Mai P. T. Nguyen, Ngoc D. Ngo, Khanh V. Tran, Hai T. Le

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Beta thalassemia is one of the most common inherited blood disorders, which is characterized by decreased or absent in beta globin expression. Patients with Beta thalassemia whose anemia is not so severe as to necessitate transfusions are said to have thalassemia intermedia. Objective: The goal of this study is prenatal diagnosis for pregnancy woman with Beta thalassemia intermedia and her husband with Beta thalassemia carrier at high risk of Beta thalassemia major in Northern of Vietnam. Material and method: The family has a 6 years-old compound heterozygous thalassemia major for CD71/72(+A) and Hbb:c. -78A>G/nt-28(A>G) male child. The father was heterozygous for CD71/72(+A) mutation which is Beta plus type and the mother was compound heterozygosity of two different variants, namely, Hbb: c. -78A>G/nt-28(A>G) and CD26(A-G) HbE. Prenatal Beta thalassemia mutation detection in fetal DNA was carried out using multiplex Amplification-refractory mutation system ARMS-PCR and confirmed by direct Sanger-sequencing Hbb gene. Prenatal diagnoses were perfomed by amniotic fluid sampling from pregnant woman in the 16-18th week of pregnancy after the genotypes of parents of the probands were identified. Result: When amniotic fluid sample was analyzed for Beta globin gene (Hbb), we found that the genotype is heterozygous for CD71/72(+A) and CD26(A-G) HbE. This genotype is different from the 1st child of this family. Conclusion: Prenatal diagnosis helps the parents to know the genotype and the thalassemia status of the fetus, so they can have early decision on their pregnancy. Genetic diagnosis provided a useful method in diagnosis for familial members in pedigree, genetic counseling and prenatal diagnosis.

Keywords: beta thalassemia intermedia, Hbb gene, pedigree, prenatal diagnosis

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Authors: Sajad Haghshenas

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Emerging evidence from clinical, genetic, and animal model studies suggests that the N-methyl-D-aspartate (NMDA) glutamate receptors (NMDAR) may contribute to the pathophysiology and aetiology of neurological and psychiatric disorders and the patients with impaired NMDR receptors experience psychological symptoms. Therefore, we hypothesised that NMDAR receptors play a key role in the development of attention deficit hyperactivity disorder (ADHD). In this comparative analytical study, we utilized western blotting method to assay the expression levels of NMDA subunits NR1 and NR2 in the blood plasma of 50 male individuals diagnosed with ADHD in comparison to 20 healthy controls. The findings from the western blotting analysis provide support for the hypothesis that individuals with ADHD exhibit significantly lower levels of NR1/2 receptors compared to those without the disorder. Further research is needed to explore the potential causal relationship between reduced NR1/NR2 receptor levels and the development of ADHD.

Keywords: expression, glutamate receptors, NR1, NR2, ADHD

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Authors: Amy Gooden, Meshandren Naidoo

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Genetic research and transfers of big data are not confined to a particular jurisdiction, but there is a lack of clarity regarding the legal requirements for importing and exporting such data. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

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Authors: Sahar Javadi-Novashnagh, Mohammad Moradi-Shahrbabak, Mostafa Sadeghi, Katarzyna Ropka-Molik, Hossein Moradi-Shahrbabak, Maria Consuelo Mura

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The objective of this study was to investigate two single nucleotide polymorphisms located in exon 2 (g.939A > G) and intron 3 (g.4349A > G) of fatty acid binding protein 3 (FABP3) gene in two Iranian sheep breeds, Lori-Bakhtiari and Zel, using polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) approach. The association of the polymorphisms with growth traits and blood parameters was also examined. Results revealed a g.939A > G SNP (single nucleotide polymorphism) in the exon 2 exhibiting three genotypes: AA, AG, and GG. Statistical analysis indicated that this polymorphism significantly influenced blood triglyceride (P < 0.05) and cholesterol (P < 0.08) levels as well as weaning weight (P < 0.05). Animals with AG genotype had the highest blood triglyceride level and weaning weight while the highest amount of blood cholesterol was observed in animals with GG genotype. On the other hand, no significant effect was observed on birth and fat-tail weight traits. The intron 3 (g.4349A > G) was monomorphic across the studied samples. Lori-Bakhtiari breed showed significantly higher blood triglyceride and cholesterol levels, as also birth and weaning weight compared to Zel breed (P < 0.01). Considering that the literature is bereft of any report on the association study between FABP3 SNPs and sheep growth traits and blood parameters, our findings suggest that the investigated polymorphism might be one of the main genetic factors affecting growth and physiological traits in sheep.

Keywords: FABP3 gene, fatness, weaning weight, blood triglyceride, cholesterol, Zel, Lori-Bakhtiari

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Authors: Andi Darmawan, Dewi Retno Sari Saputro, Purnami Widyaningsih

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Diabetes mellitus (DM) is a chronic disease in human that occurred if pancreas cannot produce enough of insulin hormone or the body uses ineffectively insulin hormone which causes increasing level of glucose in the blood, or it was called hyperglycemia. In Indonesia, DM is a serious disease on health because it can cause blindness, kidney disease, diabetic feet (gangrene), and stroke. The type of DM criteria can also be divided based on the main causes; they are DM type 1, type 2, and gestational. Diabetes type 1 or previously known as insulin-independent diabetes is due to a lack of production of insulin hormone. Diabetes type 2 or previously known as non-insulin dependent diabetes is due to ineffective use of insulin while gestational diabetes is a hyperglycemia that found during pregnancy. The most one type commonly found in patient is DM type 2. The main factors of this disease are genetic (A) and life style (E). Those disease with 2 factors can be constructed with additive genetic and unique environment (AE) model. In this article was discussed parameter estimation of AE model using Bayesian method and the inheritance character simulation on parent-offspring. On the AE model, there are response variable, predictor variables, and parameters were capable of representing the number of population on research. The population can be measured through a taken random sample. The response and predictor variables can be determined by sample while the parameters are unknown, so it was required to estimate the parameters based on the sample. Estimation of AE model parameters was obtained based on a joint posterior distribution. The simulation was conducted to get the value of genetic variance and life style variance. The results of simulation are 0.3600 for genetic variance and 0.0899 for life style variance. Therefore, the variance of genetic factor in DM type 2 is greater than life style.

Keywords: AE model, Bayesian method, diabetes mellitus type 2, genetic, life style

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Authors: Himali Gunasekara, Baddika Jayaratne

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Haematological abnormalities are known to cause Ischemic Stroke or Transient Ischemic Attack (TIA). The identification of haematological correlates plays an important role in a management and secondary prevention. The objective of this study was to describe haematological correlates of stroke and their association between stroke profile. The haematological correlates screened were Lupus Anticoagulant, Dysfibroginemia, Paroxysmal nocturnal haemoglobinurea (PNH), Sickle cell disease, Systemic Lupus Erythematosis (SLE) and Myeloploriferative Neoplasms (MPN). A cross sectional descriptive study was conducted in a sample of 152 stroke patients referred to haematology department of National Hospital of Sri Lanka for thrombophilia screening. Different tests were performed to assess each hematological correlate. Diluted Russels Viper Venom Test and Kaolin clotting time were done to assess Lupus anticoagulant. Full blood count (FBC), blood picture, Sickling test and High Performance Liquid Chromatography were the tests used for detection of Sickle cell disease. Paroxysmal nocturnal haemoglobinurea was assessed by FBC, blood picture, Ham test and Flowcytometry. FBC, blood picture, Janus Kinase 2 (V617F) mutation analysis, erythropoietin level and bone marrow examination were done to look for the Myeloproliferative neoplasms. Dysfibrinogenaemia was assessed by TT, fibrinogen antigen test, clot observation and clauss test. Anti nuclear antibody test was done to look for systemic lupus erythematosis. Among study sample, 134 patients had strokes and only 18 had TIA. The recurrence of stroke/TIA was observed in 13.2% of patients. The majority of patients (94.7%) have had radiological evidence of thrombotic event. One fourth of patients had past thrombotic events while 12.5% had family history of thrombosis. Out of haematological correlates screened, Lupus anticoagulant was the commonest haematological correlate (n=16 ) and dysfibrigonaemia(n=11 ) had the next high prevalence. One patient was diagnosed with Essential thrombocythaemia and one with SLE. None of the patients were positive for screening tests done for sickle cell disease and PNH. The Haematological correlates were identified in 19% of our study sample. Among stroke profile only presence of past thrombotic history was statistically significantly associated with haematological disorders (P= 0.04). Therefore, hematological disorders appear to be an important factor in etiological work-up of stroke patients particularly in patients with past thrombotic events.

Keywords: stroke, transient ischemic attack, hematological correlates, hematological disorders

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Authors: Andrew Anis Fakhrey Mosaad

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Introduction: There are many different types of sleep disorders, each with serious implications for a person's health and a large financial burden on society. Method: This review offers a framework based on the International Classification of Sleep Disorders to aid in the diagnosis and treatment of sleep disorders. Differentiating between primary and secondary insomnia is covered, along with pharmacological and nonpharmacological therapy options. Common abnormalities of the circadian rhythm are mentioned along with their therapies, such as light therapy and chronotherapy. This article discusses the identification and management of periodic limb movement disorder and restless legs syndrome. The therapy of upper airway resistance syndrome and obstructive sleep apnea are the main topics of discussion. Conclusion: The range of narcolepsy symptoms and results, as well as diagnostic procedures and treatment, are discussed. The causes, outcomes, and treatments of many types of insomnias, such as sleep terrors, somnambulism, and rapid eye movement (REM) behavior sleep disorders, are discussed.

Keywords: diagnosis, treatment, sleep disorders, insomnia

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Authors: Ju-Chun Chien

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The Ottawa Charter for Health Promotion proposed that the role of health services should shift the focus from cure to prevention. Nowadays, besides having physical examinations, people could also conduct genetic tests to provide important information for diagnosing, treating, and/or preventing illnesses. However, because of the incompletion of the Chinese Genetic Database, people in Taiwan were still unfamiliar with genetic testing. The purposes of the present study were to: (1) Figure out people’s attitudes towards genetic testing. (2) Examine factors that influence people’s intention to pursue genetic testing by means of the Health Belief Model (HBM). A pilot study was conducted on 249 Taiwanese in 2017 to test the feasibility of the self-developed instrument. The reliability and construct validity of scores on the self-developed questionnaire revealed that this HBM-based questionnaire with 40 items was a well-developed instrument. A total of 542 participants were recruited and the valid participants were 535 (99%) between the ages of 20 and 86. Descriptive statistics, one-way ANOVA, two-way contingency table analysis, Pearson’s correlation, and stepwise multiple regression analysis were used in this study. The main results were that only 32 participants (6%) had already undergone genetic testing; moreover, their attitude towards genetic testing was more positive than those who did not have the experience. Compared with people who never underwent genetic tests, those who had gone for genetic testing had higher self-efficacy, greater intention to pursue genetic testing, had academic majors in health-related fields, had chronic and genetic diseases, possessed Catastrophic Illness Cards, and all of them had heard about genetic testing. The variables that best predicted people’s intention to pursue genetic testing were cues to action, self-efficacy, and perceived benefits (the three variables all correlated with one another positively at high magnitudes). To sum up, the HBM could be effective in designing and identifying the needs and priorities of the target population to pursue genetic testing.

Keywords: genetic testing, knowledge of GT, people in Taiwan, the health belief model

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Authors: A. T. Laiche, M. L. Tlil, Benine B., S. Bechoua

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The aim of this study is to isolate and select, from camel milk from El-Oued region in Algeria, a strains of lactic acid bacteria and possessing probiotic properties ; and to evaluate their potential effect on intestinal disorders in Wistar ratsmThe results relating to the selection of probiotic strains confirms that the Thermophilic streptococcus exhibits the best probiotic activity performance, with a resistance important to different degrees of pH and to bile salts, and a remarkable antibacterial activity and resistance to antibiotics compared to the other four isolated strains. In the in vivo study, diseases are induced in rats at the level of the digestive system, it was reported that the administration of Escherichia coli and castor oil caused an intestinal disorders. The microscopic observation of the histological section of the intestine showed a damaged intestinal structure and some symptoms of its irritation, including a decrease in the height of the villi and the presence of others destroyed cells, and after treatment with Streptococcus thermophilus, the microscopic observation of the cut of the histological section of the intestine showed almost complete disappearance of the mentioned symptoms, The dosage of the hematological parameters by complete blood count (CBC) is in agreement with the results of the histological sections.

Keywords: camel milk, probiotic, pathogenic bacteria, intestinal disorders, lactic acid bacteria

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Authors: Kaiwan S. Ismael, Ergun Ercelebi, Majeed Nader

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This paper describes the design and implementation of a hardware setup for online monitoring of 24 refrigerators inside blood bank center using the microcontroller and CAN bus for communications between each node. Due to the security of locations in the blood bank hall and difficulty of monitoring of each refrigerator separately, this work proposes a solution to monitor all the blood bank refrigerators in one location. CAN-bus system is used because it has many applications and advantages, especially for this system due to easy in use, low cost, providing a reduction in wiring, fast to repair and easily expanding the project without a problem.

Keywords: control area network (CAN), monitoring blood bank center, PIC microcontroller, MPLAB IDE

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Authors: Girija Madhavanprabhakaran, Frincy Franacis, Sheeba Elizabeth John

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Introduction: A wide range of prenatal genetic screening is introduced with increasing incidences of congenital anomalies even in low-risk pregnancies and is an emerging standard of care. Being frontline caretakers, the role and responsibilities of nurses and midwives are critical as they are working along with couples to provide evidence-based supportive educative care. The increasing genetic disorders and advances in prenatal genetic screening with limited genetic counselling facilities urge nurses and midwifery nurses with essential competencies to help couples to take informed decision. Objective: This integrative literature review aimed to explore nurse midwives’ knowledge and role in prenatal screening and genetic counselling competency and the challenges faced by them to cater to all pregnant women to empower their autonomy in decision making and ensuring psychological comfort. Method: An electronic search using keywords prenatal screening, genetic counselling, prenatal counselling, nurse midwife, nursing education, genetics, and genomics were done in the PUBMED, SCOPUS and Medline, Google Scholar. Finally, based on inclusion criteria, 8 relevant articles were included. Results: The main review results suggest that nurses and midwives lack essential support, knowledge, or confidence to be able to provide genetic counselling and help the couples ethically to ensure client autonomy and decision making. The majority of nurses and midwives reported inadequate levels of knowledge on genetic screening and their roles in obtaining family history, pedigrees, and providing genetic information for an affected client or high-risk families. The deficiency of well-recognized and influential clinical academic midwives in midwifery practice is also reported. Evidence recommended to update and provide sound educational training to improve nurse-midwife competence and confidence. Conclusion: Overcoming the challenges to achieving informed choices about fetal anomaly screening globally is a major concern. Lack of adequate knowledge and counselling competency, communication insufficiency, need for education and policy are major areas to address. Prenatal nurses' and midwives’ knowledge on prenatal genetic screening and essential counselling competencies can ensure services to the majority of pregnant women around the globe to be better-informed decision-makers and enhances their autonomy, and reduces ethical dilemmas.

Keywords: challenges, genetic counselling, prenatal screening, prenatal counselling

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Authors: Dost Muhammad Halepoto, Laila AL-Ayadhi

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Neurodevelopmental disorders such as autism can cause lifelong disability. Genetic and environmental factors are believed to contribute to the development of autism spectrum disorder (ASD), but relatively few studies have considered potential environmental risks. Several industrial chemicals and other environmental exposures are recognized causes of neurodevelopmental disorders and subclinical brain dysfunction. The toxic effects of such chemicals in the developing human brain are not known. This review highlights the role of environmental risk factors including drugs, toxic chemicals, heavy metals, pesticides, vaccines, and other suspected neurotoxicants including persistent organic pollutants for ASD. It also provides information about the environmental toxins to yield new insights into factors that affect autism risk as well as an opportunity to investigate the relation between autism and environmental exposure.

Keywords: Autism Spectrum Disorder, ASD, environmental factors, neurodevelopmental disorder

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Authors: Vahid Changizi, Aram Rostami, Akbar Mosavi

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Purpose of study: Critical macromolecules of cells such as DNA are in exposure to damage of free radicals that induced from interaction of ionizing radiation with biological systems. Selenium and vitamin-E are natural compound that has been shown to be a direct free radical scavenger. The aim of this study was to investigate the in vivo/in vitro radioprotective effect of selenium and vitamin-E separately and synergistically against genotoxicity induced by 6MV x-rays irradiation in cultured blood lymphocytes from 15 human volunteers. Methods: Fifteen volunteers were divided in three groups include A, B and C. These groups were given slenium(800 IU), vitamin-E(100 mg) and selenium(400 IU) + vitamin-E(50 mg), respectively. Peripheral blood samples were collected from each group before(0 hr) and 1, 2 and 3 hr after selenium and vitamin-E administration (separately and synergistically). Then the blood samples were irradiated to 200 cGy of 6 Mv x-rays. After that, lymphocyte samples were cultured with mitogenic stimulation to determine the chromosomal aberrations wih micronucleus assay in cytokinesis-blocked binucleated cells. Results: The lymphocytes in the blood samples collected at 1 hr after ingestion selenium and vitamin-E, exposed in vitro to x-rays exhibited a significant decrease in the incidence of micronuclei, compared with control group at 0 hr. The maximum protection and decrease in frequency of micronuclei(50%) was observed at 1 hr after administration of selenium and vitamin-E synergistically. Conclusion: The data suggest that ingestion of selenium and vitamin-E as a radioprotector substances before exposures may reduce genetic damage caused by x-rays irradiation.

Keywords: x-rays, selenium, vitamin-e, lymphocyte, micronuclei

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Authors: Sheila R. Pai, N. K. Subbalakshmi, C. Vidya

Abstract:

Background: Accumulating evidence from prospective studies suggests an increased risk of type 2 diabetes associated with sleep deprivation and sleep disorders. Shift work by disrupting the circadian rhythm, could possibly cause metabolic disturbances. Objective: To investigate the influence of shift work on fasting blood glucose in hospital workers population. Materials and Methods: This was a cross-sectional study including 90 night shift workers (study group) and 90 day workers (controls) drawn from paramedical personnel. Night shift work was on a forward rotation basis, with an average of one night shift every 4 weeks. Each night shift rotation was for a period of 7 days, with a total of 8 hours of shift work per night. In the entire subjects body mass index (BMI) and fasting blood sugar (FBS) was measured. Statistical analysis included unpaired t test, Mann-Whitney ‘U’ test and Chi-square test. P value less than 0.05 was considered significant. Result: The study and control groups were comparable with regard to age, sex distribution and duration of employment. FBS was higher in study group compared to controls (p < 0.0001). There was no significant difference in BMI between control and study group. Conclusion: Shift work may adversely influence glucose metabolism.

Keywords: shift work, fasting blood sugar, sleep disturbances, diabetes

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Authors: Ipek Sensu

Abstract:

Comorbid Axis I disorders are highly common for suicidal borderline personality disorder (BPD) patients, especially substance use disorder and anxiety disorders. Since interpersonal dysfunction is one of the core symptoms in BPD, the purpose of the current study is to examine perceived criticism and anxiety disorders and also substance abuse disorders (SUD) for women with borderline personality disorder (BPD) who attempt suicide at least once in their lifetime. In the current study, it was suggested that the perceived criticism from others and being upset by criticism differ between suicidal women with BPD with comorbidity of anxiety disorders and SUD (separately) and suicidal women with BPD without anxiety disorders and without SUD (separately). The participants in this study included ninety-nine women who have already been diagnosed with borderline personality disorder and also have had at least two episodes of deliberate self-harm, in other words, suicide attempts and/or non-suicidal self-injury (NSSI) in the last five years and at least one episode in the 8-week period before joining the research study and at least one suicide attempt in the previous year. Structured Clinical Interview for DSM-IV Axis I Disorders (SCID) and Social History Interview (SHI) were conducted to determine the comorbid axis I disorders and level of perceived criticism. As a result of the independent sample t-tests, the first hypothesis was rejected, in other words, women with BPD and a comorbid anxiety disorder did not show significantly higher levels of ‘criticized by others’, compared to women with BPD alone. However, the levels of ‘upset at criticism’ were significantly different between suicidal women with BPD with or without any anxiety disorders, which is the second hypothesis. In addition, the third hypothesis was also accepted; this means, women with BPD who had any substance use dependence would show significantly higher levels of 'criticized by others' compared to women with BPD alone. Finally, the fourth hypothesis was partly accepted: that is, women with BPD with alcohol dependence had significantly higher levels of ‘how upset when they expose to criticism’, compared to those without alcohol dependence. Limitations, implications, and directions for future research are discussed.

Keywords: anxiety disorders, borderline personality disorders, perceived criticism, substance use disorders

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Authors: Maftunakhon Latipova, Feruza Khaydarova

Abstract:

Obesity is considered a chronic metabolic disease that occurs at any age. Regulation of body weight in the body is carried out through complex interaction of a complex of interrelated systems that control the body's energy system. Energy imbalance is the cause of obesity and overweight, in which the supply of energy from food exceeds the energy needs of the body. Obesity is closely related to impaired appetite regulation, and a hypothalamus is a key place for neural regulation of food consumption. The nucleus of the hypothalamus is connected and interdependent on receiving, integrating and sending hunger signals to regulate appetite. Purpose of the study: to identify markers of food behavior. Materials and methods: The screening was carried out to identify eating disorders in 200 men and women aged 18 to 35 years with overweight and obesity and to check the effects of Orexin A and Neuropeptide Y markers. A questionnaire and questionnaires were conducted with over 200 people aged 18 to 35 years. Questionnaires were for eating disorders and hidden depression (on the Zang scale). Anthropometry is measured by OT, OB, BMI, Weight, and Height. Based on the results of the collected data, 3 groups were divided: People with obesity, People with overweight, Control Group of Healthy People. Results: Of the 200 analysed persons, 86% had eating disorders. Of these, 60% of eating disorders were associated with childhood. According to the Zang test result: Normal condition was about 37%, mild depressive disorder 20%, moderate depressive disorder 25% and 18% of people suffered from severe depressive disorder without knowing it. One group of people with obesity had eating disorders and moderate and severe depressive disorder, and group 2 was overweight with mild depressive disorder. According to laboratory data, the first group had the lowest concentration of Orexin A and Neuropeptide U in blood serum. Conclusions: Being overweight and obese are the first signal of many diseases, and prevention and detection of these disorders will prevent various diseases, including type 2 diabetes. Obesity etiology is associated with eating disorders and signal transmission of the orexinorghetic system of the hypothalamus.

Keywords: obesity, endocrinology, hypothalamus, overweight

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