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The present case was a case of Down’s syndrome with Robertsonian translocation t (21; 21) probably arising de novo. Conflicts of interest The author has none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.446 140 Partial trisomy of chromosome 9 with congenital anomalies Preeti Kumari ∗ , Dinesh Kumar Baitha, Sriparna Basu, Royana Singh BHU, Varanasi, Uttar Pradesh, India Chromosomal studies were carried out on the patient’s peripheral blood culture. In addition to routine chromosome analysis, G banding studies were done through trypsin banding method. A case of trisomy for the short arm of chromosome 9 in patient is described, Phenotype shows facial and digital anomalies, with particular emphasis on multiple congenital anomalies including omphalocoele unrupted with liver and gall bladder, microstomia, micro-opthalmia and an additional finger, hydrocephalous, with chief complaint in breathing. The karyotyping results from both parents was karyotyped and both are found to be normal Therefore, the child was trisomic for the region 9p13–pter Following this, the diagnosis was changed to trisomy of the short arm of chromosome 9. With regard to the origin of extra p arm pattern several hypotheses can be made. (1) A disturbance of meiosis I on the paternal or maternal side in which two of the four chromatids of a bivalent 9 are rearranged in such a way that a chromosome is formed interpreted as an isochromosome. This chromosome, together with a normal chromosome 9, would then go to 1 gamete as a result of a faulty distribution. (2) A selective endo reduplication involving the entire short arm of chromosome 9 and its centromere during meiosis I or during one of the postzygotic mitosis. Conflicts of interest The authors have none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.447 141 Study of polymorphism of GCPII gene in neural tube defect Barkha Singh ∗ , S.K. Rai, A.N. Gangopadhyay, R. Singh Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India Neural tube defects (NTDs) are congenital malformations of the central nervous system with a prevalence of 0.5 to 12 per 1000 births globally. A NTD is an opening in the spinal cord or brain that occurs very early in development in 3rd week of pregnancy during gastrulation. An essential nutrient for biological methylation and nucleotide biosynthesis is folate. Deficiency of this folate may lead to severe disease of megaloblastic anaemia and elevates the risk of congenital neural tube defects. Glutamate carboxypeptidase II (GCPII) gene is predominantly expressed in brain, intestinal mucosa and prostate gland respectively. The presence of polymorphism
in this gene known to decrease the folylpoly-␥-glutamate carboxypeptidase (FGCP) activity, thereby impairing the intestinal absorption of folate. To study the association of maternal low vitamin B12 and/or folate levels (and resultant hyperhomocysteinemia) and polymorphisms in specific genes namely: GCP II, MS, MTRR and FOLR 1, with occurrence of NTD’s in the Indian population. The study will also help us in determining the genetics determinants of these vitamin levels and homocysteine. We have done literature survey, collected blood samples and DNA was extracted using salting out method, primer designed for GCP II, run PCR, after that electrophoresis has been done and finally RFLP has been done for analysis of polymorphism of GCPII gene. C1561T (H475Y) polymorphism in GCPII in north Indian population was obtained. H475Y polymorphism is associated with hyperhomocysteinemia leading to neural tube defect. Conflicts of interest The authors have none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.448 142 Roles of VANGL2 in development of planar cell polarity pathway: An essential phenomenon for organogenesis and its disruption may leads to neutral tube defects Sunil Kumar Rai ∗ , Royana Singh Institute of Medical Sciences, Banaras Hindu University Varanasi, Uttar Pradesh, India VANGL2 (vang-gogh like2), a gene known to have role in planar cell polarity signaling during embryonic development which is important for polarized cell movement and organ morphogenesis through activation of cytoskeletal pathways, which has been shown to play numerous roles during neural tube closure. The disrupted function of PCP pathway is connected with NTDs. Mutational analysis for this gene was done in multiethnic cohort of 180 familial and sporadic NTD patients. Two novel rare mutations were identified in 2 cases with positive familial history for NTD, both of them were affected with open forms of NTDs. This suggests that VANGL2 mutations may predispose to NTDs in approximately 1.1% of open NTDs (2 in 180) cases. Our findings implicate VANGL2 in the genetic causation of spinal NTDs in a subset of patients and provide additional evidence for a pathogenic role of PCP signaling in these malformations. Conflicts of interest The authors have none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.449 143 Effect of ibuprofen on retina of adult Swiss albino mice – A light microscopic study Vijay Gujar Department of Anatomy, M.G.I.M.S. Sevagram, Maharashtra, India Ibuprofen is one of the most widely used anti-inflammatory (NSAIDs) drug in world. To find out light microscopic changes on
Abstracts / Journal of the Anatomical Society of India 65S (2016) S98–S142
retina of adult Swiss albino mice as an effect of prolonged use of ibuprofen. The study was conducted on 60 adult Swiss albino mice (30 as experimental and 30 as control). In Experimental set of mice oral dose of Ibuprofen was given at a concentration of 120 mg/kg per day by intragastric tube up to a period of six weeks. The eyeballs dissected out were subjected to gross and histological examination by light microscopy. Selective parameters were examined quantitatively by histo-morphometry. Apparently there was no change in the histological structure of retina of two groups of mice. There were statistical significant changes were seen when slides of two groups were subjected to histomorphometry. The detailed data with its statistical relevance would be presented in conference. Chronic use of Ibuprofen does not cause any effect on retina of Swiss albino mice when observing grossly but it may have ill effect at cellular level. Conflicts of interest The author has none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.450 144 Ultrastructural study of rat testis following conventional phototherapy during neonatal period H. Krishna All India Institute of Medical Sciences, New Delhi, India Phototherapy is the treatment for neonatal jaundice. This study aimed to determine ultrastructural changes in testis after phototherapy of 48 h given to newborn rats. Rats (n = 36) were divided into two groups – I (control) and II (phototherapy treated). Six animals from each group were sacrificed on postnatal days (PND) 70, 100 and 130. The testes were dissected out and processed for light microscopy (LM) and Transmission Electron Microscopy (TEM). The LM of testes from group II on PND 70 and 100 showed disorganization of seminiferous tubules (ST), increased intercellular space, fewer spermatozoa and degenerated germ cells sloughed into the lumen. TEM showed that group II on PNDs 70 and 100 showed damaged organelles, including nuclei, mitochondria, ER, vacuoles and electron dense bodies in the testes. ST on PND130 showed lesser damage on both LM & TEM. On PND70 ST wall thickness (STWT) of Group II was significantly higher (p < 0.001) than Group I. STWT of Group II was significantly lower than Group I on PND100 (p-value = 0.047) and on PND130 (p < 0.001). Mitochondrial diameter in spermatogonia was significantly higher in group II on PND70 (p = 0.001), PND100 (p = 0.031) and PND130 (p = 0.028). Primary spermatocytes also had larger mitochondria on PND70 (p < 0.001), PND100 (p = 0.007) and PND130 (p = 0.008). Spermatids also had larger mitochondria in group II on PND70 (p < 0.001), PND100 (p = 0.044) and PND130 (p < 0.001). Phototherapy causes degenerative changes in rat testis on PND70 and 100 that partially recover by PND 130. It needs to be investigated whether conventional phototherapy in the newborn period would affect fertility. Conflicts of interest The author has none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.451
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145 An association between arsenic trioxide (As2 O3 ) exposure and cognitive dysfunction in mice B. Kaur All India Institute of Medical Sciences, Delhi, India Arsenic trioxide (As2 O3 ) has been in use for the treatment of Acute Promyelocytic Leukaemia (APL) with complete remission and no myelosuppression. However, As2 O3 induced neurodegeneration and cognitive dysfunction has been reported even with low dosage. Aim was to study the effects of As2 O3 on behavioural and morphological features of mice basal forebrain (related to cognitive functions). Healthy Swiss albino mice (adult male) were obtained after ethical clearance from IAEC, AIIMS and divided into control (I) and experimental groups (II, III, IV) with 6 mice/group/subgroup. The test substances (As2 O3 – 2 mg; 4 mg and 8 mg/kg) were administered orally for 45 days to experimental groups. Open field, elevated plus maze and Morris water maze were carried out during the experimental period and at the end of the experimental period, the brain tissue obtained from perfusion fixed animals was processed for paraffin processing, 8 m thick sections were stained with CV and observed for morphological features of basal forebrain. An increase was observed in escape latency, distance travelled and swimming duration in As2 O3 treated groups as against the controls. Morphological observations showed structural disruption along with decreased neuronal count in basal forebrain of As2 O3 treated animals. Chronic exposure to As2 O3 in mice is associated with altered cognitive behaviour and disrupted morphological features in basal forebrain. Conflicts of interest The author has none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.452 146 Prenatal piracetam and valproic acid induced histological changes in cerebral cortex of fetal mice S. Shrestha ∗ , C.B. Jha, M. Singh B.P. Koirala Institute of Health Sciences, Dharan, Nepal, India Valproic acid (VPA) is an anticonvulsant drug used to control seizure disorders. Its exposure during pregnancy may result in increased incidence of neural tube defects. Piracetam is a nootropic drug which possesses antioxidant, cytoprotective and neuroprotective properties. The main objective of this study to see the effect of prenatal piracetam and VPA induced histological changes in cerebral cortex of fetal mice. This is an experimental study in which animal were divided into four groups. Eight mice were allocated randomly in each group. Group I received D/W, group II VPA (400 mg/kg), group III piracetam (800 mg/kg) and group IV received VPA and piracetam dose above mentioned were administered orally to pregnant mice from day 6–11 of gestation period. All the groups of mice were sacrificed by cervical dislocation on 18th day of gestation and uterotomy was done. The brain of fetuses were taken out and kept in 10% formalin solution. In the histological examination, section were cut in 5 m and stained with haematoxylin and eosin.