Genetics

The effects of physiotherapy and rehabilitation on Pallister-Killian Syndrome: A case report

Published on: 20th December, 2018

OCLC Number/Unique Identifier: 7964755732

The aim of the paper is to determine the effects of physiotherapy and rehabilitation (PHTR) on a child with Pallister-Killian Syndrome (PKS). Gross Motor Function Measure (GMFM) and duration of grasping ping pong ball were the primary outcome measures which were conducted at the beginning, 12th, and 24th month. Neurodevelopmental Therapy and Sensory Integration Therapy were used as intervention methods. The most increase with around 50% was acquired in Section A of the GMFM. Duration of holding a ping pong ball gradually increased. As a result, this is the first paper presenting a PHTR shedule and its results in a child with PKS.
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Open bite malocclusion: An overview

Published on: 12th January, 2018

OCLC Number/Unique Identifier: 7379416963

The term open bite is referred as no contact between anterior or posterior teeth. The complexity of open bite is attributed to a combination of skeletal, dental and habitual factors. Etiology of open bite can be attributed to genetics, anatomic and environmental factors. However, the tendency toward relapse after conventional or surgical orthodontic treatment has been indicated. Therefore, open bite is considered one of the most challenging dentofacial deformities to treat. The aim of this article is to emphasize that early etiological diagnosis, dentofacial morphology and classification are essential to the successful outcome of the technical intervention. Failure of tongue posture adaptation subsequent to orthodontic and/or surgical treatment might be the primary reason for relapse of open bite. Prolonged retention with fixed or removable retainers is advisable and necessary in most cases of open bite treatment. The treatment of open bite remains a tough challenge to the clinician; careful diagnosis and timely intervention with proper treatment modalities and appliance selection will improve the treatment outcomes and long-term stability. 
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Triple negative breast cancer: Early stages management and evolution, a two years experience at the department of breast cancer of CHSF

Published on: 30th June, 2020

OCLC Number/Unique Identifier: 8625623678

Breast cancer is the most common cancer in women and is a major public health problem. It is divided into several subtypes, including triple negatives. The general objective of our study is to establish the profile and the management of patients with triple negative breast cancer over a period of 2 years, operated in our department. During our study period, triple-negative breast cancers accounted for 10% of our population. The most affected age group ranges from 50 to 60. The majority of patients in our sample are pauciparous. In the group of patients who received hormone therapy, it was mainly HRT for 4 to 6 years. 96.77% of patients consulted a health worker within 3 months of the discovery of the signs. Adenopathies are frequently present at the time of diagnosis. 93.54% of the cases have an invasive ductal carcinoma. Triple negative cancers are essentially poorly differentiated. Triple-negative cancer has a high rate of cell renewal. In our study, neoadjuvant chemotherapy is mostly indicated for triple-negative breast cancers ≥ 30 mm at diagnosis and a delayed lumpectomy is then performed in 23.52% of the patients. For tumors of < 30 mm size, a lumpectomy is performed immediately in 76.47% of the patients, followed by adjuvant chemotherapy. Mastectomy was performed in 45.16% of patients; it was mainly indicated in front of a large tumor size associated with a small breast volume, then multifocal breast tumors. Breast reconstruction was performed in 21.42%. Radiation therapy is indicated in the majority of patients, postoperatively. In our population, 11 patients were proposed to have an oncogenetic survey; it was mainly indicated based on the Manchester criteria in front of a young age and a family history of cancer. There are two BRCA 1 mutations, one BRCA 2 mutation, and one case of absence of mutation. The therapeutic intake in case of a mutation is directed towards a prophylactic bilateral mastectomy and adnexectomy, proposed at the age of 40. Two patients had presented triple negative recurrences of their already treated breast cancer; first case PDL1 positive PD-L1 ≥ 1% treated with immunotherapy combined with chemotherapy (atezolizumab/abraxane) while the second and second PDL1 negative treated with chemotherapy alone. Despite their low frequency, triple negative breast cancers represent a subgroup marked by pejorative characteristics, a reserved prognosis, with limited treatment options.
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Why? It is the question that I ask myself every day, every hour, every second...

Published on: 22nd March, 2021

OCLC Number/Unique Identifier: 9031334722

It is the dart that penetrates deep into my soul, every time I see with my own eyes how the incidence of cancer has grown in recent years. I am a pathologist. I am dedicated to diagnosing the disease from the cellular and tissue point of view. The answer to the question that haunts me may seem easy, simple, but I am not satisfied with knowing that advances in technology make it possible to diagnose a greater number of entities, many of them in early stages [1]. Of course, this statement is true. However, in recent years we have verified a greater number of cases with aggressive phenotypes, a fact that makes us ask ourselves certain questions. The first one is: Why? We know that cancer is a multifactorial disease in which genetics and different environmental factors participate. Are we witnessing the concurrence of factors that facilitate the greatest degree of neoplasms? Are habits the cause of this paradigm shift? On the table for debate is the therapeutic success of new strategies, of new drugs, of new algorithms, but the morphology is also changing. This change is exacerbated in the times of pandemic that we have lived through [2]. Pathologists attend a number of cancer diagnoses that have grown exponentially, as has the histological grade, not the staging, of it. And the initial question remains in the air, why? The fear of going to the hospital, the fear of self-exploration, the diversion of media attention to topics that arouse greater interest ... may be having a harmful effect on the health of patients [3]. I do not tell anything new, at least nothing that cannot be assumed by analyzing what happens every day in this new world, a world that will soon have to face, if not already, a cut in resources, research and other parameters that will negatively influence the answers to the eternal question: Why? In the era of personalized medicine, the same one that has reached or is close to reaching great milestones in the survival of once-deadly diseases, the microscope shows a parallel reality and allows, at least, to be pessimistic, or at least realistic: suffering…
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Phylogenetic analysis of metalloprotease from transcriptome of venom gland of Hemiscorpius lepturus

Published on: 5th February, 2019

OCLC Number/Unique Identifier: 8017112487

Hemiscorpius lepturusis a dangerous scorpion and referred to health concern issue in Khuzestan, Iran. The venom of H.lepturus is cytotoxic and its effect is similar to spider Loxosceles reclusa. Metalloproteinases are the important class of enzymes in the venom that has hemorrhagic activity. The early finding suggests the existence of metalloproteases in the transcriptome of venom gland of H.lepturus. Phylogenetic analysis was accomplished to reveal the evolutionary relationship of identified metalloproteases. The phylogenetic tree was constructed by Molecular Evolutionary Genetics Analysis software and neighbor-joining method. Results showed among three sequences, two metalloproteinases named HLMP1 and HLMP3 of H.lepturus were most close to spider P. tepidariorum. The third sequence named HLMP2 was different and formed an independent clade in the phylogenetic tree. The results suggest that the sequence of metalloproteases in the venom component of H.lepturus is similar to the spider than the scorpion.
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Chronic fatigue syndrome and epigenetics: The case for hyperbaric oxygen therapy in biomarker identification

Published on: 26th February, 2021

OCLC Number/Unique Identifier: 9038783706

Chronic fatigue syndrome (CFS) is a poorly-understood respiratory condition that affects millions of individuals. Hyperbaric oxygen therapy (HBOT) is a treatment option being considered to address CFS as it is suggested to combat fatigue and increase oxygenation. HBOT provides two opportunities in advancing research of CFS: it may provide data on symptom amelioration and be utilized in the search for a biomarker. By either identifying biomarkers before using HBOT to compare epigenomes of patients before and after treatment or using HBOT to find epigenetic discrepancies between patients with and without treatment, matching epigenetic regulation with symptom amelioration may significantly advance the understanding of the etiology and treatment mechanism for CFS. EPAS1/HIF-2α is a leading candidate for an epigenetic biomarker as it responds differentially to hypoxic and normoxic conditions, which degrades more slowly in hypoxic conditions. Epigenetic regulation of EPAS1/HIF-2α in such differential conditions may be explored in HBOT experiments. In addition to HBOT as a promising treatment option for CFS symptoms, it may aid the identification of biomarkers in CFS. Further research into both outcomes is strongly encouraged.
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Pulmonary Involvement in COVID-19 and ‘Long Covid’: The Morbidity, Complications and Sequelae

Published on: 15th June, 2021

Introduction: the perennial pandemic: There are serious challenges posed by the SARS-CoV-2 virus and COVID-19 as the disease. With the persistence of the pandemic over one and half year, it is being feared that the COVID-19 may have become the new reality associated with human existence world over and the mankind may have to live with it for years or even decades. Further, the grievous nature of the disease is evolving further with genomic changes in the virus in form of mutations and evolution of variants, with enhanced infectivity and probably virulence. Acute and chronic phases of COVID-19: Epidemiologically, it is becoming clear that apart from the advanced age and pre-existing conditions, such as diabetes, cardiovascular, pulmonary, and renal diseases, certain constituent factors render some patients more vulnerable to more severe forms of the disease. These factors influence the COVID-19 manifestations, its course, and later the convalescence period as well as the newly defined ‘Long COVID phase. The substantial continuing morbidity after resolution of the infection indicates persisting multisystem effects of ‘Long Covid’. Lung damage associated with COVID-19: COVID-19 is primarily a respiratory disease presenting with a broad spectrum of respiratory tract involvement ranging from mild upper airway affliction to progressive life-threatening viral pneumonia and respiratory failure. It affects the respiratory system in various ways across the spectrum of disease severity, depending on age, immune status, and comorbidities. The symptoms may be mild, such as cough, shortness of breath and fevers, to severe and critical disease, including respiratory failure, shock, cytokine crisis, and multi-organ failure. Implications for the post-COVID care: Depending on the severity of respiratory inflammation and damage, as well as associated comorbidities, duration of injury and genetics, the progressive fibrosis leads to constriction and compression of lung tissues and damage to pulmonary microvasculature. Consequently, the COVID-19 patients with moderate/severe symptoms are likely to have a significant degree of long-term reduction in lung function. Depending on the severity of the disease, extensive and long-lasting damage to the lungs can occur, which may persist after resolution of the infection. Managing the long COVID’s challenges: Given global scale of the pandemic, the healthcare needs for patients with sequelae of COVID-19, especially in those with lung affliction are bound to increase in the near future. The challenge can be tackled by harnessing the existing healthcare infrastructure, development of scalable healthcare models and integration across various disciplines with a combination of pharmacological and non-pharmacological modalities. Following clinical and investigational assessment, the therapeutic strategy should depend on the disease manifestations, extent of damage in lungs and other organs, and associated complications.
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Ethical Dimensions of Population Genetic Research in the Caucasus

Published on: 20th January, 2017

OCLC Number/Unique Identifier: 7317652374

The emergence and establishment of anthropological genetics as an interdisciplinary science is primarily, associated with the development of new genomic technologies. Precision genetic testing on the one hand, and the rapidly increasing number of genetic investigations on the other, have created a set of bioethical dilemmas for genetic and epidemiology research. Such research deals with persons who have the right to the protection of their personal information and confidentiality, and also concerns collective (village, region, ethnic group, state) consciousness, ethnic identity, and traditional culture, i.e., so called “ethnic pride”. In this regard, taking into consideration the results of ongoing field research, we make some recommendations for better management of relationships with individuals and communities and the preparation of questionnaires and informed consent forms that will facilitate similar research projects, especially in such an ethnically, linguistically and culturally diverse region such as the Caucasus.
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What can Mathematics say about unsolved problems in Medicine?

Published on: 3rd January, 2018

OCLC Number/Unique Identifier: 7355939664

Nobody doubts that mathematics plays a crucial role in medical achievements. It is certain that is being mainly used in statistics and physics for biomedical problems [1]. For sure that we have already heard about how mathematics can improve the anticancer arsenal [2]. Quantitative genetics have triggered a giant potential in medical care [3,4]. And mathematical algorithms, provided by artificial intelligence, continuously boost new therapeutic paradigms [5,6]. Nonetheless, one cannot ignore the ability of mathematics for analyzing ideas.
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Synthetic Animal: Trends in Animal Breeding and Genetics

Published on: 11th January, 2019

OCLC Number/Unique Identifier: 7976985981

Synthetic biology is an interdisciplinary branch of biology and engineering. The subject combines various disciplines from within these domains, such as biotechnology, evolutionary biology, molecular biology, systems biology, biophysics, computer engineering, and genetic engineering. Synthetic biology aims to understand whole biological systems working as a unit, rather than investigating their individual components and design new genome. Significant advances have been made using systems biology and synthetic biology approaches, especially in the field of bacterial and eukaryotic cells. Similarly, progress is being made with ‘synthetic approaches’ in genetics and animal sciences, providing exciting opportunities to modulate, genome design and finally synthesis animal for favorite traits.
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Auditory effects and consequences of noise pollution in humans: A scoping review

Published on: 9th November, 2020

OCLC Number/Unique Identifier: 8796529862

Noise is widespread in everyday life and can cause both auditory and non-auditory health impacts. Noise-induced hearing loss remains highly prevalent in occupational settings and is now increasingly caused by exposure to social and environmental noise. Incidence of noise-induced hearing loss (NIHL) has been observed to increase substantially in the recent years. Several advances have taken place in past few years for understanding the molecular basis of NIHL. Our understanding of molecular mechanisms implicated in noise-induced hair-cell and nerve damage has significantly increased. Research in the field of genetics is also advancing at a rapid speed, and several genes linked to NIHL have been discovered. This could help in developing preventive and treatment strategies. This review article focuses on the current research and future trends on auditory effects and consequences of noise pollution in humans, stressing the importance of adequate noise prevention and mitigation strategies as a public health measures.
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Primer Pairs for Rice (Oryza sativa L.) Bisulfite Sequencing Studies

Published on: 6th November, 2018

OCLC Number/Unique Identifier: 7905997684

Many agriculturally important properties such as heterosis, inbreeding depression, phenotypic plasticity, and resistance for biotic and abiotic stresses are thought to be affected with epigenetic components. New discoveries related with epigenetics are likely to have a major impact on strategies for crop improvement in rice breeding. However, assessing the contribution of epigenetics to heritable variation in plant species still poses major challenges. Methylation of cytosine in DNA is one of the most important epigenetic mechanisms in plants. DNA methylation not only plays significant roles in the regulation of gene activity, but also it is related with genomic integrity. Although most of next generation sequencing (NGS) technologies do not require the use of target specific primer pairs to identify and study DNA cytosine methylation, validation studies of NGS uses selective primer pairs. Bisulfite sequencing technique is a gold method for DNA cytosine methylation studies. However, bisulfite sequencing requires the development of bisulfite primer pairs to selectively study DNA sequences of interest. In this study 9 bisulfite specific primer pairs were identified and validated. These primer pairs successfully amplified bisulfite converted and unconverted genomic DNA extracted from radicle and plumule of rice (Oryza sativa L.) seedlings. Results of the present study clearly revealed the occurrence of CG, CHG and CHH (H stands for C. T or A nucleotides) contents in studied DNA sequence targets were different indicating potential role of DNA cytosine methylation in these genes. Primer pairs reported in this study could be used to detect DNA methylation which is one of the most important epigenetic mechanisms affecting the development, differentiation or the response to biotic and abiotic stress in rice (Oryza sativa L.).
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The lifestyle modification effectiveness in reducing Hypertension in a Brazilian Community: From the epigenetic basis of Ancestral Survival to the Contemporary Lifestyle and Public Health Initiatives

Published on: 12th May, 2017

OCLC Number/Unique Identifier: 7317592099

High blood pressure (HBP) is a strong, independent and etiologically relevant risk factor for cardiovascular and therefore, the leading cause of preventable deaths worldwide. Hypertension has high medical and social costs. Due to its many associated complications, the use of medical services create high costs with medications which represent almost half of the estimated direct expenses. Free distribution of more than 15 medications for HyPERtension and DIAbetes (HIPERDIA program) clearly shows the important role of drugs in the Brazilian Government’s effort to tackle these two diseases. Notwithstanding, the prevalence of HBP is rising in parallel with other NCDs. It is known that HBP results from environmental and genetic factors, and interactions among them. Our ancestors were often faced with survival stresses, including famine, water and sodium deprivation. As results of natural selection, the survival pressures drove our evolution to shape a thrifty genotype, which favored/promoted energy-saving and sodium/water preservation. However, with the switch to a sodium- and energy-rich diets and sedentary lifestyle, the thrifty genotype and ancient frugal alleles, are no longer advantageous, and may be maladaptive to disease phenotype, resulting in hypertension, obesity and insulin resistance syndrome. Low-grade chronic inflammation and oxidative stress would be the underlying mechanisms for these diseases. HBP is often associated with unhealthy lifestyles such as consumption of high fat and/or high-salt diets and physical inactivity. Therefore, alternatively to medicine drugs, lifestyle and behavioral modifications are stressed for the prevention, treatment, and control of hypertension. A lifestyle modification program (LSM) involving dietary counseling and regularly supervised physical activity (“Move for Health”) has been used for decades, in our group, for NCDs primary care. Retrospective (2006-2016) data from 1317 subjects have shown the top quartile of blood pressure(142.2/88.5mmHg) differing from the lower quartile (120.6/69.2mmHg) by being older, with lower schooling, lower income and, lower physical activity and aerobic capacity. Additionally, the P75 showed higher intake of CHO, saturated fat and sodium along with lower-diet quality score with a more processed foods. They showed higher body fatness and prevalence of metabolic syndrome along with higher pro-inflammatory and peroxidative activities and insulin resistance. In this free-demand sample, the HBP rate was 51.2% for SBP and 42.7% for DBP. The rate of undiagnosed HBP was 9.8% and only 1/3 of medicated patients were controlled for HBP. After 10 weeks of LSM the HBP normalization achieved 17.8% for SBP and 9.3% for DBP with a net effectiveness of 8.5% and 2.4%, respectively. The reduction of HBP by LSM was followed by increased aerobic conditioning and reduced intake of processed foods along with decreased values of BMI, abdominal fatness, insulin resistance, pro-inflammatory and peroxydative activities. Importantly, once applied nationwide this LSM would save HBP medication for 3.1 million of hypertensives at an economic saving costs of US$ 1.47 billion a year!
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Treating Blood Hypertension in a Brazilian Community: Moving from Reactive Homeostatic Model to Proactive Allostatic Healthcare

Published on: 26th January, 2018

OCLC Number/Unique Identifier: 7338864811

The responsiveness of hypertensive subjects to different types of physical exercises and length of intervention, has been investigated in samples of our dynamic cohort study (“Move for Health” program) based on spontaneous demand for healthy lifestyle with supervised exercises and dietary counseling. After clinical selection and baseline assessments they were spontaneously assigned to exercise protocols of strength (PAc) isolated or combined with endurance (walking) exercises (PMi) daily or in alternated days(PMiA), hydrogymnastics(PHy) and tread mill high- intensity exercises(PHit), applied during 10(experiment 1) and 20(experiment 2) weeks of intervention. Baseline demographic, socioeconomic, anthropometric and physical activity and fitness characteristics were similar among protocols. Ten-week training improved VO2max. Similarly in all protocols while hand grip increased only in PAc. In average, there was a 16% reduction rate of hypertension rate from baseline with both, SBP and DBP, reduced by PHy and only SBP by the PMi. After adjustments hypertension was more reduced by PAc, PMi and PHy. In the 20-week experiment, higher SBP was similarly reduced by PAc or PMiA and DBP by PMiA, after adjustments. Hence, so far, our generated data suggest physical exercises as an effective tool for hypertension reduction, from 10 weeks to 3 year-long supervised protocols composed by surface or aquatic activities with strength or endurance exercises. PAc takes longer and short-period responsiveness can be achieved by either combined (strength-endurance) or hydrogymnastic exercises. Thus, exercise training is a time-and type-dependent tool, feasible, costless and scientific-based rheostatic-allostatic alternative for the current “sick-care” drug-dependent homeostatic approach to hypertension med care.
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Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism

Published on: 24th March, 2021

OCLC Number/Unique Identifier: 9272364196

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.
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Institutional capacity of health care institutes for diagnosis and management of common genetic diseases - A study from a north coastal district of Andhra Pradesh

Published on: 28th June, 2021

OCLC Number/Unique Identifier: 9124855034

Background: In India, the genetic disease is a disregarded service element in the community health- protection system. This study aims to gauge the accessibility of services for treating genetic disorders and also to evaluate the practices on deterrence and management services in the district health system. Methods: A cross-sectional survey of selected health amenities from 454 medical officers (MO’s), 94 accredited social health activist (ASHAs) workers, 86 multipurpose health assistant-female (MPHA-F), 34 multipurpose health assistant-male (MPHA-M), 14 multipurpose health supervisors-female (MPHS-F), 10 multipurpose health supervisors-male (MPHS-M), 6 multipurpose health extension officer/ community health officer (MPHEO/CHO), 10 public health nurse (PHN), 45 lab technicians (LT’s) working in the government health sector and 254 in the private health sector, 409 nursing staff working in the government health sector and 995 in the private health sector, 15 primary health centers (PHC’s), 4 community health centers (CHC’s), 1 district government hospital (DGH), 3 referral hospitals (RH’s). From the side of private health institutions 25 corporate hospitals (CH’s), 3 medical colleges (MC’s), and 25 diagnostic laboratories (DL’s) were conducted. Results: The findings show that adequate staff was in place at more than 70% of health centers, but none of the staff have obtained any operative training on genetic disease management. The largest part of the DH’s had rudimentary infrastructural and diagnostic facilities. However, the greater part of the CHC’s and PHC’s had inadequate diagnostic facilities related to genetic disease management. Biochemical, molecular, and cytogenetic services were not available at PHC’s and CHC’s. DH’s, RH’s, and all selected medical colleges were found to have offered the basic Biochemical genetics units during the survey. In 24% of CH’s, the basic biochemical units are available and 32% (8 out of 25) of DL’s have the advanced biochemical genetics units by study. Molecular genetics units were found to be available in 28% (7 out of 25) of DL’s during the study. About 6 (24%) diagnostic centers of cytogenetic laboratories were located in the Visakhapatnam district under the private sector. Conclusion: The district health care infrastructure in India has a shortage of basic services to be provided for the genetic disorder. With some policy resolutions and facility strengthening, it is possible to provide advanced services for a genetic disorder in the district health system.
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Endogenous archeological sciences: Physiology, Neuroscience, Biochemistry, Immunology, Pharmacology, Oncology and Genetics as instrument for a new field of investigation? Modern global aspects for a new discipline

Published on: 14th December, 2018

OCLC Number/Unique Identifier: 7976988064

In this work is analyzed scientific literature involved in human evolution to be used as an archeological Pathway to link different sciences in an overall new discipline. A rational classification of single evidence make possible to better understand under new light some Physiological process. The archeological instrument to be applied in other field like biology or other sciences.
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Consequence of birth year, type, sex, season and flock on birth weight trait of Kajli sheep

Published on: 10th August, 0220

OCLC Number/Unique Identifier: 8652201950

The liaison of birth weight to neonatal and mature vigor is especially given important if have the acquaintance of factors distressing in birth weight. Unbiased Best linear prediction of breeding values was estimated from pedigree birth weight records of 13715 Kajli sheep of livestock Experiment Station Khizerabad born 1994 to 2010, and Livestock Experimental Station, Khushab. Data records were statistically analyzed by means of using computer programmed Mixed Model Harvey’s Least Squares and Maximum Likelihood. An animal model was used for heritability estimation following Maximum Likelihood procedure. Estimates of birth weight heritability in Kajli sheep were 0.05 ± 0.019. The estimated breeding values of both forms for males, females, and sire were calculated with significant variation. Both farms data were analyzed by using an animal model program. The squares mean slightest for weight at birth (kg), remained 4.13 ± 0.01 kg. In addition, birth of the year, the birth of type, flock and sex significantly affects the (p < 0.001) trait of birth weight. The domino effect of the current study has rational implications not only for sheep husbandry nevertheless as well as for amplified acquaintance of parameters which drastically persuade deviation of weight in birth as weight in birth has become itself noteworthy forecaster of anon fitness outcomes. These results showed the decreasing genetic and static phenotypic at birth weight. It is likely that there are complex interactions between genetics and environmental factors of parental, placental and fetal origin. Birth weight is highly influenced trait by maternal nutrition, genes, care, management, climate, seasonal variation and type of birth.
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Do genes matter in sleep?-A comprehensive update

Published on: 5th March, 2020

OCLC Number/Unique Identifier: 8556126395

Sleep is considered as a complex process in human beings and is least understood mechanism. Role of sleep in synaptic plasticity remains a debatable topic till date. Sleep is influenced by genetic background of the individual. EEG done in human sleep showed strong influence of genetic factors. A handful of familial analyses involving specific gene loci and twin studies has been done in this regard. In this review article focused discussion on genetic contribution to sleep phenotypes, twin and familial linkage studies and effect of genetic variation on sleep will be covered
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Differential diagnosis of POLG related disorders: What to keep in mind when multiorgan system is involved?

Published on: 9th June, 2021

Mitochondrial and lysosomal dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) leading to deficient energy production and defects in phagocytosis in endosomal-lysosomal pathway respectively. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between the two. The mitochondrial DNA depletion syndromes (MDSs) are a clinically heterogeneous group of disorders with an autosomal recessive pattern of inheritance that have onset in infancy or early childhood and are characterized by a reduced number of copies of mtDNA in affected tissues and organs. In this review article, we summarized the spectrum of mtDNA depletion disorders along with minor learning of lysosomal storage diseases. This current article offers a perspective on the role of genetics in medical practice and how this role may evolve over the next several years.
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