scholarly journals AN OBSERVATIONAL STUDY TO ASSESS THE PARENTAL DOSHA PRAKRITI OF AUTISTIC CHILDREN

2021 ◽  
Vol 9 (12) ◽  
pp. 2942-2947
Author(s):  
Parvathy S ◽  
Ananda Lakshmy K N
Keyword(s):  
Observational Study ◽  
Genetic Factors ◽  
Complete Relief ◽  
Computer Assisted ◽  
History Taking ◽  
Autistic Children ◽  
Repetitive Behaviours ◽  
Detailed History ◽  
Immunological Factors ◽  
Genetically Determined

Prakriti refers to the genetically determined physical and mental constitution of an individual. Autism is a lifelong disability identified by impaired communication, social interaction and repetitive behaviours. The genetic, envi- ronmental and immunological factors play an important role in generating autism. Genetic factors are more pre- dominant in autism pathogenesis than the environmental factors that would modulate the phenotype. Until now, no interventions have proven widely effective in providing complete relief to autism. Therefore, the prevention of autism needs supreme attention. To a greater extent, prakriti of an individual can determine proneness to particu- lar diseases. To assess the prakriti of both parents of 30 diagnosed cases of autistic children attending the OPD and IPD of Govt. Ayurveda College, Kannur were randomly selected. They are subjected to detailed history taking based on specially prepared proforma and assessments were recorded. Their prakriti assessment was done using a validated computer-assisted questionnaire software Ayusoft developed by C-DAC Pune. The data was statistically analysed. In this study, Vata pitta prakriti was significantly seen in mothers of autistic children. Keywords: Prakriti, Autism

scholarly journals Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review

Cells ◽  
2021 ◽  
Vol 10 (1) ◽  
pp. 171
Author(s):  
Federica Arienti ◽  
Giulia Lazzeri ◽  
Maria Vizziello ◽  
Edoardo Monfrini ◽  
Nereo Bresolin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Genetic Risk ◽  
Genetic Factors ◽  
Diagnostic Algorithm ◽  
Behavioral Changes ◽  
Corticobasal Syndrome ◽  
Cochrane Library ◽  
Radiological Features ◽  
Genetically Determined

Corticobasal syndrome (CBS) is an atypical parkinsonian presentation characterized by heterogeneous clinical features and different underlying neuropathology. Most CBS cases are sporadic; nevertheless, reports of families and isolated individuals with genetically determined CBS have been reported. In this systematic review, we analyze the demographical, clinical, radiological, and anatomopathological features of genetically confirmed cases of CBS. A systematic search was performed using the PubMed, EMBASE, and Cochrane Library databases, included all publications in English from 1 January 1999 through 1 August 2020. We found forty publications with fifty-eight eligible cases. A second search for publications dealing with genetic risk factors for CBS led to the review of eight additional articles. GRN was the most common gene involved in CBS, representing 28 out of 58 cases, followed by MAPT, C9ORF72, and PRNP. A set of symptoms was shown to be significantly more common in GRN-CBS patients, including visuospatial impairment, behavioral changes, aphasia, and language alterations. In addition, specific demographical, clinical, biochemical, and radiological features may suggest mutations in other genes. We suggest a diagnostic algorithm to help in identifying potential genetic cases of CBS in order to improve the diagnostic accuracy and to better understand the still poorly defined underlying pathogenetic process.

scholarly journals Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria

Cancers ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1876
Author(s):  
Madlen Reschke ◽  
Eva Biewald ◽  
Leo Bronstein ◽  
Ines B. Brecht ◽  
Sabine Dittner-Moormann ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Observational Study ◽  
Ciliary Body ◽  
Prospective Observational Study ◽  
Genetic Data ◽  
Detailed History ◽  
Cancer Early Detection ◽  
Physical Examinations ◽  
Eye Tumors ◽  
Multicenter Prospective Observational Study

Retinoblastoma and other eye tumors in childhood are rare diseases. Many eye tumors are the first signs of a genetic tumor predisposition syndrome and the affected children carry a higher risk of developing other cancers later in life. Clinical and genetic data of all children with eye tumors diagnosed between 2013–2018 in Germany and Austria were collected in a multicenter prospective observational study. In five years, 300 children were recruited into the study: 287 with retinoblastoma, 7 uveal melanoma, 3 ciliary body medulloepithelioma, 2 retinal astrocytoma, 1 meningioma of the optic nerve extending into the eye. Heritable retinoblastoma was diagnosed in 44% of children with retinoblastoma. One child with meningioma of the optic nerve extending into the eye was diagnosed with neurofibromatosis 2. No pathogenic constitutional variant in DICER1 was detected in a child with medulloepithelioma while two children did not receive genetic analysis. Because of the known association with tumor predisposition syndromes, genetic counseling should be offered to all children with eye tumors. Children with a genetic predisposition to cancer should receive a tailored surveillance including detailed history, physical examinations and, if indicated, imaging to screen for other cancer. Early detection of cancers may reduce mortality.

scholarly journals Profile of Secondary Glaucoma at a Tertiary Hospital in East Java

2021 ◽  
Vol 56 (1) ◽  
pp. 56
Author(s):  
Evelyn Komaratih ◽  
Yuyun Rindiastuti ◽  
Yulia Primitasari
Keyword(s):  
Intraocular Pressure ◽  
Observational Study ◽  
Surgical Complication ◽  
Anterior Segment ◽  
Tertiary Hospital ◽  
Secondary Glaucoma ◽  
Female Ratio ◽  
Poor Vision ◽  
Detailed History ◽  
Male Female Ratio

Glaucoma is the leading cause of irreversible blindness. The aim of this study was to review the profile of secondary glaucoma cases visiting a tertiary hospital in East Java. This is retrospective observational study, completed case records of new patients with secondary glaucoma who presented to glaucoma clinic from January 2014 to April 2016 were included. Out of the 363 case records screened, 66 cases were found to eligible for inclusion. The evaluation included a detailed history and examination performed including vision, anterior segment examination, intraocular pressure (IOP), gonioscopy, and fundus evaluation. Diagnosis of secondary glaucoma was made on the basis of presence of a secondary cause for presence of raised IOP. 66 cases were eligible for inclusion in the study, most of the cases was occurred in the range age 21-50 years. The male female ratio was 1.3:1. Frequent causes of secondary glaucoma were lens factor 30.8%, steroid induced 29.5%, uveitic 20.5%, neovascular15.4%, and surgical complication 3.8%. Most patients with secondary glaucoma have poor vision < 0.1 with high IOP at presentation. Assessment and early detection of underlying cause is the key guide to treatment strategy.

scholarly journals Aetiological factors in left-handedness

2005 ◽  
Vol 133 (11-12) ◽  
pp. 532-534 ◽  
Author(s):  
Sanja Milenkovic ◽  
Goran Belojevic ◽  
Radojka Kocijancic
Keyword(s):  
Genetic Factors ◽  
The Body ◽  
Intrauterine Environment ◽  
Foetal Development ◽  
Ultrasound Exposure ◽  
The Past ◽  
Left Handedness ◽  
Left Handed ◽  
Efferent Pathways ◽  
Genetically Determined

Lateralisation associates the extremities and senses of one side of the body, which are connected by afferent and efferent pathways, with the primary motor and sensory areas of the hemisphere on the opposite side. Dominant laterality denotes the appearance of a dominant extremity or sense in the performance of complex psychomotor activities. Laterality is manifested both as right-handedness or left-handedness, which are functionally equivalent and symmetrical in the performance of activities. Right-handedness is significantly more common than left-handedness. Genetic theory is most widely accepted in explaining the onset of lateralisation. According to this theory, the models of brain organisation asymmetry (anatomical, functional, and biochemical) are strongly, genetically determined. However, the inability to clearly demonstrate the association between genetic factors and left-handedness has led researchers to investigate the effects of the environment on left-handedness. Of particular interest are the intrauterine environment and the factors influencing foetal development, of which hormones and ultrasound exposure are the most significant. It has been estimated that an extra five cases of nonright-handed lateralisation can be expected in every 100 males who were exposed to ultrasound in utero compared to those who were not. Socio-cultural pressure on left-handed individuals was much more severe in the past, which is confirmed by scientific findings that left-handedness is present in 13% of individuals in their twenties, while in less than 1% of individuals in their eighties.

scholarly journals The role of genetically determined factors in age-related macular degeneration pathogenesis

2015 ◽  
Vol 8 (4) ◽  
pp. 30-39
Author(s):  
Svetlana Georgievna Belekhova ◽  
Yury Sergeevich Astakhov
Keyword(s):  
Macular Degeneration ◽  
Genetic Factors ◽  
Age Related Macular Degeneration ◽  
Complement Factor ◽  
Age Related ◽  
Genetically Determined

The article presents a review of studies dedicated to the role of genetic factors in age-related macular degeneration (AMD) pathogenesis. The polymorphisms of Y402H gene of the complement factor Н, HTRA1, ARMS2/LOC387715, and PLEKHA1 increase the risk of AMD development. More detailed description is done also for other genes, involved into this disease, which were identified so far. Possible schemes of influence of mutations in these genes on AMD development and progression

scholarly journals interactions between genetic and environmental factors determine direction of population lateralization

2005 ◽  
Vol 28 (4) ◽  
pp. 598-598 ◽  
Author(s):  
chao deng
Keyword(s):  
Environmental Factors ◽  
Genetic Factors ◽  
Head Rotation ◽  
Head Turning ◽  
Genetic And Environmental Factors ◽  
Genetically Determined

direction of the embyro's head rotation is determined by asymmetrical expression of several genes (such as shh, nodal, lefty, and fgf8) in hensen's node. this genetically determined head-turning bias provides a base for light-aligned population lateralization in chicks, in which the direction of the lateralization is determined by genetic factors and the degree of the lateralization is determined by environmental factors.

An evaluation of recurrent pregnancy loss

2017 ◽  
Vol 6 (4) ◽  
pp. 1332 ◽  
Author(s):  
Abha Singh ◽  
Avinashi Kujur ◽  
Kalpana Rathore
Keyword(s):  
Pregnancy Loss ◽  
Genetic Factors ◽  
Recurrent Pregnancy Loss ◽  
First Trimester ◽  
Medical College ◽  
Antenatal Counseling ◽  
History Of ◽  
Immunological Factors ◽  
The Times ◽  
Loving Care

Background: This study was aimed to know the demographic profile and categorizes the causes of RPL.Methods: This observational study was carried out in the department of obstetrics and gynecology, Pt. J.N.M. Medical College Raipur from Nov 2015-Sept 2016. Total 100 women were evaluated with history of RPL.Results: 100 women were recruited in our study. The incidence of primary RPL was more than secondary RPL. 48 % women had first trimester abortions. The identifiable causes accounted for 53% out of which anatomical defects were the commonest .Next were endocrinal factors (20%), and Genetic factors (1%),Immunological factors 7%., Medical causes were 3%. However, 47% were unexplained.Conclusions: Despite innumerable investigations, sometimes or rather most of the times, the etiology remains obscure. It is this group of women who become a challenge to manage. Ultimately, most effective therapy for women with unexplained RPL is antenatal counseling, psychological support and tender loving care.

Do genetic factors explain associations between muscle strength, lean mass, and bone density? A twin study

1996 ◽  
Vol 270 (2) ◽  
pp. E320-E327 ◽  
Author(s):  
E. Seeman ◽  
J. L. Hopper ◽  
N. R. Young ◽  
C. Formica ◽  
P. Goss ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Fat Mass ◽  
Lean Mass ◽  
Genetic Factors ◽  
Mineral Density ◽  
Cross Sectional ◽  
The Cross ◽  
The Individual ◽  
Genetically Determined ◽  
Trait Correlation

Are the associations between muscle strength, lean mass, and bone mineral density (BMD) genetically determined? Based on within-pair differences in 56 monozygotic (MZ) and 56 dizygotic (DZ) female twin pairs, mean age 45 yr (range 24-67), BMD was associated with lean mass, independent of fat mass and height (P < 0.05). A 10% increment in femoral neck (FN) BMD was associated with a 15% increment in lean mass (approximately 6 kg). BMD was associated with muscle strength (measured in 35 pairs) before, but not after, adjusting for lean mass. Based on age-adjusted cross-sectional analyses, same-trait correlations (+/- SE) in MZ pairs were double those in DZ pairs: FN BMD (0.62 +/- 0.08, 0.33 +/- 0.12) and lean mass (0.87 +/- 0.03, 0.30 +/- 0.11; all P < 0.001), consistent with a genetic hypothesis. The cross-trait correlation (r) between lean mass and FN BMD in the same individual was 0.43 +/- 0.06. The cross-trait cross-twin correlation between lean mass in one twin and FN BMD in the other was 0.31 +/- 0.07 in MZ pairs, approximately 75% of the cross-trait correlation (r) and 0.19 +/- 0.09 in DZ paris (P < 0.001). After adjusting for height and fat mass, the MZ and DZ cross-trait cross-twin correlations were no different (0.16 +/- 0.08 and 0.13 +/- 0.09, respectively). Therefore, genetic factors account for 60-80% of the individual variances of both FN BMD and lean mass, and > 50% of their covariance. The association between greater muscle mass and greater BMD is likely to be determined by genes regulating size.

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