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Rhino-orbital mucormycosis is a rare life threatening invasive fungal infection that has recently shown a very high mortality rate in India during COVID-19 pandemic. We have designed the present study to find out associations between COVID-19 induced rhino-orbital mucormycosis and concentrations of inflammatory markers, i.e. D-dimer, Ferritin, IL-6, CRP and PCT, in blood serum of Indian population.There were four groups in the study, viz. control group with healthy subjects, treatment group-1 with patients suffering from SARS-COV-2 infection, treatment group-2 with patients suffering from both SARS-COV-2 infection and rhino-orbital mucormycosis, and treatment group-3 with patients suffering from rhino-orbital mucormycosis after SARS-COV-2 infection recovery. Inflammatory markers were quantified with standard protocols, and recorded data were subjected to statistical analyses.We found that patients suffering from SARS-COV-2 infection were more susceptible to rhino-orbital mucormycosis, as they had higher concentrations of inflammatory markers in their blood than the other subjects. Diabetes mellitus, hypertension, cardiovascular diseases and renal disorders were the associated comorbidities with the patients. We also found higher concentrations of inflammatory markers in males than the females, indicating towards their higher susceptibility in developing rhino-orbital mucormycosis than females. Present study therefore suggests that the frequent occurrence of rhino-orbital mucormycosis in India during second wave of COVID-19 was possibly due to indiscriminate use of corticosteroids by COVID-19 patients. Subjects with previous history of comorbidities like diabetes mellitus, hypertension, cardiovascular disorders and renal diseases are the most susceptible population groups for developing infection. Moreover, males are at higher risk of developing mucormycosis than the females.

Purpose: The tumor protein p53 (or p53) gene plays a major role in the maintenance of normal cell growth and differentiation. Alteration in p53 gene is responsible for carcinogenesis. In this study, we evaluated the frequency of p53 mutation and clinicopathological findings in various eyelid malignancies. Materials and Methods: We reviewed a cohort of 20 patients with various eyelid malignancies over one year. The expression of p53protein was analyzed by amplifying the exons 5-9 of p53 gene by conventional Polymerase Chain Reaction (PCR) followed by sequencing to identify mutations. Results: The commonest eyelid malignancies was sebaceous gland carcinoma (SGC;50%) followed by basal cell carcinoma (BCC;45%) and squamous cell carcinoma(SCC; 5%). Study population/patients were mostly elderly (60 %, > 50 years of age) and female (75%). A total of 14 mutations were identified in the p53 genes in 9/20 (45%) patients at different intron or exon. Amongst them 6 patients (66.7%) had SGC and 3 (33.3%) had BCC. Out of the total 14 mutations identified, 8 intronic variation and 6 exonic mutations were identified. Out of 6 exonic variations, 5 caused frame shift mutations due to insertion or deletion of bases and one case was of substitution mutation (D281Y). Conclusion: Sebaceous gland carcinoma (SGC) was found to be most prevalent eyelid cancer in the present study and it most frequent displayed mutation inthe p53 genes among the all eyelid tumors investigated. Keywords: p53protein, PCR, Eyelid tumor, Mutation, Polymorphism, Sequencing, Sebaceous gland carcinoma, Basal cell carcinoma, Squamous cell carcinoma

The rapid expansion of coronavirus SARS-CoV-2 has impacted various ethnic groups all over the world. The burden of infectious diseases including COVID-19 are generally reported to be higher for the Indigenous people. The historical knowledge have also suggested that the indigenous populations suffer more than the general populations in the pandemic. Recently, it has been reported that the indigenous groups of Brazil have been massively affected by COVID-19. Series of studies have shown that many of the indigenous communities reached at the verge of extinction due to this pandemic. Importantly, South Asia also has several indigenous and smaller communities, that are living in isolation. Till date, despite the two consecutive waves in India, there is no report on the impact of COVID-19 for indigenous tribes. Since smaller populations experiencing drift may have greater risk of such pandemic, we have analysed Runs of Homozygosity (ROH) among South Asian populations and identified several populations with longer homozygous segments. The longer runs of homozygosity at certain genomic regions may increases the susceptibility for COVID-19. Thus, we suggest extreme careful management of this pandemic among isolated populations of South Asia.

India had faced a devastating second outbreak of COVID-19 infection, in which a majority of the viral sequences were found to be of the B.1.617.2 lineage (Delta-variant). While India and the world focused on vaccination, reports of vaccine-immunity evasion by the virus, termed "breakthrough cases", emerged worldwide. Our study was focused on the primary objective to identify the mutations associated with breakthrough infections SARS-CoV-2.In our study, we extracted the SARS-CoV-2 RNA (ribonucleic acid) from reverse transcription-polymerase chain reaction (RT-PCR) positive COVID-19 patients, and 150 random samples were sent for sequencing to the Centre for CellularMolecular Biology, Hyderabad. Whole genome sequences of 150 SARS-CoV-2 viral samples were analyzed thoroughly. We mostly found B.1.617 and its sub-lineages in the genomic sequencing results.On further analysis of patient data, it was seen that nine patients had been vaccinated against the SARS-CoV-2 previously. These nine patients had B.1.617/B.1 or A strains, and all of them had similar genomic variations in spike proteins as well as non-structural proteins (NSPs). The mutations seen in these sequences in the Spike (S), NSPs, and open reading frame (ORF) regions would have produced amino acid changes known to improve viral replication, confer drug resistance, influence host-cell interaction, and lead to antigenic drift.Increased virulence culminating in vaccine immunity evasion may be inferred from these specific mutations. Our study adds to the growing body of evidence linking rapidly emerging mutations in the S (Spike) and ORF genes of the SARS-CoV-2 genome to immune evasion.

Introduction: In the human body, one of the most variable muscle groups is the psoas muscle group. The psoas muscle group is composed of long fusiform muscles – major, minor and accessorius, and out of these the psoas major muscle is present in all individuals. Aim: Reporting the gross anatomic detail of the psoas minor and psoas accessories muscles is the main aim of our study. Materials and Methods: 25 formalin preserved and embalmed cadavers were available for our study. We took the different in-situ measurements with the help of a digital vernier caliper. Results: We found psoas minor muscle on the right side in 5 (20%) cadavers and on the left side in 4 (16%) cadavers. While in 3 cadavers (12%), psoas minor was present bilaterally. So out of 25 cadavers, psoas minor muscle was observed in 12 (48%). Psoas accessorius was present in just 1 cadaver (4%). Discussion: This psoas minor and psoas accessorius muscle has both evolutionary as well as clinical significance and importance. Conclusion: The morphology of this muscle is very important for anatomists, surgeons, kinesiologists and physiotherapists from its clinical point of view. Keywords: Iliopectineal eminence, Posterior abdominal wall, Psoas accessorius, Psoas major, Psoas minor and Pecten pubis.

BACKGROUND Spleen is the largest lymphatic organ having an important role in immunological and haematological response of the body. A surgeon should prefer a conservative approach in case of splenic injury. It varies a lot variation in shape, size and other morphometric parameters which should be kept in mind while examining and / or operating on a patient. The present study focuses on morphometric analysis of cadaveric spleen and its comparison with other previous studies. METHODS A total number of 49 human cadaveric spleens obtained from the Department of Anatomy, Institute of Medical Sciences, Varanasi, were selected for morphometric studies. The length, breadth and width were measured using a measuring tape and a digital vernier callipers. Weight was measured using an electronic weighing machine. Data obtained was tabulated and statistically analysed in Microsoft Excel. Others features like variation in shape was noted down. Notches on the superior and inferior borders and fissures on diaphragmatic and visceral surfaces were also studied. RESULTS Out of 49 cases, lengths of the spleens ranged between 5.1 cms and 13.6 cms, with an average length of 9.53 cms. Breadth was observed to vary between 3.2 cms and 9.2 cms, with an average breadth of 6.12 cms., width of the spleens varied from 1.8 cms to 7.1 cms, with an average width of 3.52 cms. Out of 49 spleens, wedge shaped (61.22 %) was the most common followed by tetrahedral (20.41 %) shape, triangular (12.24 %) shape, oval (4.08 %) shape and semilunar (2.08 %) shape. The number of notches varied from zero to four, but in most of the cases there were 1 or 2 notches. The maximum number of notches were found to be four and they were present on the superior border of spleen. Out of 49 specimens, 55.10 % spleens had notches on superior border, 12.24 % on inferior border, and 8.16 % on both the borders. There was absence of notch in 20.41 % of spleens. 4.08% had anomalous fissures on diaphragmatic surface in which one of the fissure was H shaped. CONCLUSIONS The findings of the present study will be useful to anatomists in their routine dissection classes as well as for clinicians in the diagnosis of various clinical diseases of spleen.

Studies worldwide have shown that the available vaccines are highly effective against SARS-CoV-2. However, there are growing laboratory reports that the newer variants of concerns (VOCs e.g. Alpha, Beta, Delta etc) may evade vaccine induced defense. In addition to that, there are few ground reports on health workers having breakthrough infections. In order to understand VOC driven breakthrough infection we investigated 14 individuals who tested positive for SARS-CoV-2 after being administered a single or double dose of Covishield (ChAdOx1, Serum Institute of India) from the city of Varanasi, which is located in the Indian state of Uttar Pradesh. Genomic analysis revealed that 78.6% (11/14) of the patients were infected with the B.1.617.2 (Delta) variant. Notably, the frequency (37%) of this variant in the region was significantly lower (p

Introduction: Cervicobrachial Pain Syndrome (CBPS) is a disorder of enhanced mechanosensitivity to the neural structure, also known as lower cervical pain Syndrome. Cervicobrachial pain is managed by manual and traditional therapy, besides medical management. Aim: The aim of this scoping analysis was to determine the efficacy of the protocols for cervicobrachial syndrome treatment. Materials and Methods: Until March 2020, initial literature searches were performed through robust online electronic databases such as “Scopus” “MEDLINE via PubMed, EMBASE, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Web of Sciences and Cochrane Controlled Trials Register in Cochrane Library, Physiotherapy Evidence Database (PEDro), ProQuest 5000 International, ProQuest Health and Medical Complete, and following keywords were used “Neck Disability Index, “Upper Limb Tension test, “Goniometry “Neck pain,” “Cervicobrachial Pain Syndrome,” Thirty six studies were included in this scoping study using PRISMA guidelines. Results: There is little evidence of manual and conventional physiotherapy treatment of cervicobrachial pain and its efficacy. Key advantages have been reported in manual therapy and exercises methods for pain relief and rehabilitation. Electrotherapeutic modalities, neck strengthening exercises, traction and methods for handling soft tissue are considered to be less effective in managing cervicobrachial pain syndrome relative to manual therapy. Lateral cervical glide and median nerve slider technique (neurodynamic) have useful effects as a treatment intervention in multiple cases of cervicobrachial pain syndrome, such as the median nerve slider technique and contra-lateral cervical glide technique. Recommendations for the management of cervicobrachial syndrome in practice should be encouraged in additional trials of innovative treatment methods. Conclusion: Studies should identify which cervicobrachial pain respond to specific interventions for immediate and effective response so as to increase the quality of life of the patients. Further research with innovative techniques of therapeutic approach would facilitate practice guidelines for the management of cervicobrachial syndrome.

With the growing evidence on the variable human susceptibility against COVID-19, it is evident that some genetic loci modulate the severity of the infection. Recent studies have identified several loci associated with greater severity. More recently, a study has identified a 50kb segment introgressed from Neanderthal adding a risk for COVID-19, and this trait is present among 16% and 50% people of European and South Asian origin respectively. Contrary to this finding, our studies on ACE2 identified a haplotype present among 20% and 60% of European and South Asian populations respectively, which appears to be responsible for the low case fatality ratio among South Asian populations. This result was also consistent with the realtime infection rate and case fatality ratio among various states of India. We readdressed this issue using both of the contrasting datasets and compared them with the realtime infection rates and case fatality ratio in India. We found out that the polymorphism present in the 50kb introgressed segment (rs10490770) did not show any significant correlation with the realtime infection and case fatality ratio in India.

With the growing evidence on the variable human susceptibility against COVID-19, it is evident that some genetic loci modulate the severity of the infection. Recent studies have identified several loci associated with greater severity. More recently, a study has identified a 50 kb genomic segment introgressed from Neanderthal adding a risk for COVID-19, and this genomic segment is present among 16% and 50% people of European and South Asian descent, respectively. Our studies on ACE2 identified a haplotype present among 20% and 60% of European and South Asian populations, respectively, which appears to be responsible for the low case fatality rate among South Asian populations. This result was also consistent with the real-time infection rate and case fatality rate among various states of India. We readdressed this issue using both of the contrasting datasets and compared them with the real-time infection rates and case fatality rate in India. We found that the polymorphism present in the 50 kb introgressed genomic segment (rs10490770) did not show any significant correlation with the infection and case fatality rate in India.

With the growing evidence on the variable human susceptibility against COVID-19, it is clear that there are some genetic loci modulating the severity. Recent studies have identified several loci associated with the higher severity. More recently, a study has identified 50kb segment introgressed from Neanderthal adding risk for COVID-19, and is present among 16% and 50% people of European and South Asian origin respectively. Contrary to that, our studies on ACE2 identified a haplotype present among 20% and 60% of European and South Asian populations respectively, was probably responsible for the low case fatality ratio among South Asian populations. This result was also consistent with the realtime infection rate and case fatality ratio among various states of India. We readdressed this issue using both of the contrasting datasets and compared them with the realtime infection rates and case fatality ratio in India. We found out that that the polymorphism present in 50kb introgressed segment (rs10490770) did not show any significant correlation with the realtime infection and case fatality ratio in India.With the growing evidence on the variable human susceptibility against COVID-19, it is clear that there are some genetic loci modulating the severity. Recent studies have identified several loci associated with the higher severity. More recently, a study has identified 50kb segment introgressed from Neanderthal adding risk for COVID-19, and is present among 16% and 50% people of European and South Asian origin respectively. Contrary to that, our studies on ACE2 identified a haplotype present among 20% and 60% of European and South Asian populations respectively, was probably responsible for the low case fatality ratio among South Asian populations. This result was also consistent with the realtime infection rate and case fatality ratio among various states of India. We readdressed this issue using both of the contrasting datasets and compared them with the realtime infection rates and case fatality ratio in India. We found out that that the polymorphism present in 50kb introgressed segment (rs10490770) did not show any significant correlation with the realtime infection and case fatality ratio in India.

Characterization is absolutely necessary and is a must in order to understand and estimate different silver nanoparticle (nm) size in specific group wise manner which corresponds to group wise in number & sizes, and their importance and effect on biological tissue and organs with agglomeration for nano toxicological studies in environments, the acute toxicity of colloidal silver nano particles (AgNps) were studied in fresh dissected tissues of Swiss Albino mice and their fetuses. In this manuscript, an attempt is made to demonstrate the synthesis and characterization of silver nano particles with a wide range of sizes (from 2.75 nm up to 1908.2 nm in radius) by reducing silver nitrate powder with polyvinyl pyrollidone in aqueous solutions in the presence of a sodium borohydride stabilizer. The resulting particles were found spherical aggregates with a rough surface and poly dispersity index below 18.26% (>0.783 PDI). The particle optical, cumulative, diluents and electrical conductivity properties were examined by dynamic light scattering and zeta potential but morphology was evaluated after examination by transmission electron microscopy & image-j. Silver nanoparticles were directly coated with polyvinyl pyrollidone with a sodium borohydride stabilizer. Optical properties on a single-particle level were studied by means of auto correlation function measurements. The effective poly dispersity index of the charged silver nanoparticles was low enough to form a colloidal crystal at low ionic strength. Colloidal form is found more toxic than suspended particles in 1.5 molar sodium chloride solution; this shows increase of silver nanoparticles size due to agglomeration, will reduce the toxicity but increase teratogenicity.

Background: Endometriosis affects an estimated 176 million women worldwide, which constitutes 10% of the total female population causing debilitating symptoms of pelvic pain and infertility, which limits the quality of reproductive life of affected women. The present study aimed to assess the serum level of VEGF and pro-inflammatory marker IL-6 in cases and normal healthy control groups.Methods: VEGF and IL-6 serum levels were measured by competitive sandwich enzyme-linked immunosorbent assay (ELISA) from 34 subjects with surgically confirmed endometriosis, 16 subjects with adenomyosis and 18 similar age matched healthy controls with no clinical evidence of the disease or detectable endometriotic lesions at the time of surgical examination. Patients were characterized in terms of their socio-demographic and clinically diagnosed characteristics, including the validated infertility and chronic disease registries.Results: The mean serum level of VEGF was significantly (p

Introduction: During pulmonary vein isolation ablation procedure, the knowledge of number and position of pulmonary veins with thickness of posterior wall of left atrium (LA) is of invaluable significance. The objective of the study was to determine the left atrial wall thickness (LAWT) and its relationship with number and variations of right pulmonary veins (RPVs) and left pulmonary veins (LPVs). Methodology: In an observational study, carried out in the Department of Anatomy, All India Institute of Medical Sciences, Raipur (Chhattisgarh), morphological variations of pulmonary veins among 75 formalin-fixed hearts were noted. The thickness of posterior wall of LA was measured in each specimen studied. The number of RPVs and LPVs was counted. Any sexual differences in these numbers were noted. Results: Normal anatomical description of two RPVs and two LPVs opening the LA was observed in 63 out of 75 heart specimens (84%). The posterior LAWT is ranged 1.28–1.48 mm where two RPVs and two LPVs enter LA. The remaining 12 specimens (16%) showed variation in the number of veins opening into LA ranging between 1 and 5 veins of either side. The posterior LAWT ranged between 1.01 and 2.53 mm in these 12 specimens. The mean posterior LAWT thickness with 3, 4, and 5 RPVs was 1.47, 1.94, and 2.43 mm, respectively. Conclusion: The thickness of posterior wall of LA increases as the number of RPVs increases. Twelve specimens (16%) showed variation in the number of veins opening into LA ranging between 1 and 5 veins of either side.

Endometriosis is an estrogen-dependent chronic inflammatory disease associated with substantial morbidity, including dyspareunia, dysmenorrhea, pelvic pain, multiple surgery, and infertility. This disease has a high impact on both woman’s physical and mental wellbeing. The etiology of endometriosis is complex and multifactorial. The risk factors associated with the development of endometriosis include family history, menstrual and reproductive cycle, low body mass index (BMI), diet, alcohol uses, smoking, environmental factors, immune system, genetic factors and intrinsic abnormalities in the endometrium. There exist many theories on the initiation and propagation of different types of endometriotic lesions and consequent biological disturbances, of which the most common is the Sampson’s theory according to which the retrograde flow of menstrual blood is linked to the development of endometriosis. Endometriosis affected women have a higher risk than the general female population, for ovarian cancer, coronary heart disease (CHD), and other long-term disease risks as well for autoimmune and atopic disorders. Therefore it becomes a necessity for the clinician not only to attain right diagnosis but also follow up for the other associated disorders. In this review, we have considered the crucial risk factors and biomarkers of the endometriosis as well as the possible pathogenesis towards the development of endometriosis and its prevention strategies. The currently available therapies for the control and treatment of endometriosis have also been elaborated.

Introduction: The frequency and distribution of dystrophin gene deletions vary in patients with Duchene/Becker muscular dystrophy (DMD/BMD). Objective: In this study, we aimed to analyze clinical, biochemical, and dystrophin gene deletion pattern, by using multiplex polymerase chain reaction (PCR) in the population of eastern Uttar Pradesh and the adjoining districts of Bihar and Madhya Pradesh. Material and Method: After clinical assessment, 225 patients of DMD/BMD were analyzed for deletion in dystrophin gene. Clinical features and biochemical parameters were noted. For genetic study, all samples were tested for deletion from 25 exons of DMD gene by using multiplex PCR. Result: Deletions were detected in 169 (75.1%) patients of DMD/BMD. Deletions were observed in both proximal and mid-distal hot spot regions with maximum deletion localized in the mid-distal hot spot region of the gene. The most frequent deletions were observed in exon 50 (14.9%) and exon 49 (10.8%). Conclusion: This study concludes that mid-distal region of dystrophin is highly polymorphic in the population of eastern Uttar Pradesh and responsible for pathogenesis of DMD. The population of eastern Uttar Pradesh shows similar pattern of deletion in dystrophin gene when compared with other ethnic groups of the Indian population.

Background: Neural tube defects (NTDs) are congenital malformations with an incidence of 1–10/1000 live births. Homocysteine and vitamin B12 metabolism have been shown to be associated with NTDs. Aim: To investigate the status of maternal and neonate's folic acid, homocysteine, and vitamin B12 levels and their association with the risk of development of NTDs in the population of Eastern Uttar Pradeshand Western Bihar, India. Materials and Methods: This study is a cross-sectional, retrospective study where 96 mothers who either had a first NTD child or had a history of NTD child in the family and 126 neonates with spina bifida were recruited during the period 2012-2015. Eighty-four control mothers whose previous and current pregnancies were normal, and 87 control neonates who had no defects and were within the same age range as the NTD affected neonates, recruited from the department of pediatric surgery, were enrolled in the study. Plasma concentrations of folic acid, vitamin B12, and homocysteine were compared between cases and controls. Results: The folic acid level in the mothers and neonates was within the normal limit. A significant increase in the level of homocysteine in mothers with affected pregnancy and in neonate cases in comparison to control mothers was obseved. Further, a significant decrease in the level of vitamin B12 in mothers with NTD neonates and in the affected neonates was noted. A negative correlation was found between homocysteine and vitamin B12 levels in case and control mothers. Conclusion: A correlation of an increase in serum homocysteine with a decrease in vitamin B12 was seen in mothers of neonates with NTD. A similar observation as made in the neonates with NTDs. It may be suggested that maternal decrease in vitamin B12, in mothers who have normal folic acid may be associated with NTD in their children.

Introduction: Today, molecular cardiology is characterized by the integration of high-technology laboratory studies and clinical medicine. Molecular genetics has redefined the etiology and diagnostic criteria for numerous diseases and has led to the development of new, individualized treatment regimens for several cardiovascular diseases. Amongst all, dilated cardiomyopathy is the commonest cause of heart failure. This study was conducted to identify the possible genetic change in dilated cardiomyopathy in North Indian population. Material & Methods: Blood samples of dilated cardiomyopathy patients were collected from Cardiology OPD, Sir Sunderlal Hospital, Banaras Hindu University. DNA was isolated using salting out method. PCR was done to amplify exons 32, 33 and 34 of MYBPC3 gene. The PCR product was sequenced to detect the mutational changes in Exons 32-34 of MYBPC 3 gene. Results: There were 65 control samples and 65 DCM samples were collected. Total 76 intronic variations were reported. In three (BHU/15/425, BHU/15/450, BHU/16/89) patients, disease causing pathogenic variant c3624_3625insC (rs397516029, HMGD CD0910628) was reported in MYBPC3 gene. Insertion of G at 47354119_47354120 position was reported that lead to a frameshift mutation in three subjects. Several Missence variants were also reported 47354121G>C, 47353899C>T, 47353715C>A, 47353647A>C, 47353626G>T that are present in coding region and may lead to alteration in protein structure and function. Conclusion: Evidence from previous study reported that MYBPC3 play important role in cardiac contraction and responsible for pathogenesis of dilated cardiomyopathy. Therefore, the identification of frequent genetic transmission of dilated cardiomyopathy provides an important tool for the study of pathogenesis of this disease, which is a frequent cause of admission to the hospital and of heart failure

Objective To elucidate the genetic cause of a large 5 generation South Indian family with multiple individuals with predominantly an upper limb postural tremor and posturing in keeping with another form of tremor, namely, dystonic tremor. Methods Whole-genome single nucleotide polymorphism (SNP) microarray analysis was undertaken to look for copy number variants in the affected individuals. Results Whole-genome SNP microarray studies identified a tandem duplicated genomic segment of chromosome 15q24 present in all affected family members. Whole-genome sequencing demonstrated that it comprised a ∼550-kb tandem duplication encompassing the entire LINGO1 gene. Conclusions The identification of a genomic duplication as the likely molecular cause of this condition, resulting in an additional LINGO1 gene copy in affected cases, adds further support for a causal role of this gene in tremor disorders and implicates increased expression levels of LINGO1 as a potential pathogenic mechanism.

Among all nanoparticles Silver nanoparticle is important because of its antifungal amp antimicrobial activity and also known to be anti inflammatory and wound healer Silver nanoparticle is a strong bactericidal agent as it cleaves silver ion of atomic valency one inside the bacterial cell Silver nanoparticle in moderate manner causes neurotoxicity skeletal dysmorphogenesis and embryo teratogenicity in in vitro position of model mouse to nm size silver nanoparticles in colloidal solution was given in dose mg kg b w respectively to randomly chosen mother mice from the colony by oral gavages from th to th day of gestational age The control group mother received normal saline Fetuses were collected on day th of gestation Alizarin staining was done to evaluate the skeletal dysmorphology The common skeletal dysmorphology seen were unossification of sternum frontal bone parietal bone temporal bone mandible maxilla vertebral column scapulae and ribs along with those cleft scoliosis spina bifida and hypoplasia was also seen nbsp

Introduction: Spinocerebellar ataxia type 3 (SCA3), or Machado-Joseph disease (MJD), is a prevalent autosomal dominant-inherited disease that causes progressive problems with movement. Abnormal repetitive expansion of CAG trinucleotide in the ATXN3 gene results in SCA3. This study was done to review the corporation of CAG repeats and polymorphisms in definitive genes with the occurrence of SCA3 in the Indian community, especially in the eastern UP population. Material and Methods: The 40 Ataxia's patient and their parents were listed after obtaining written consent from the participant's attendant/guardians. Out of these, we have identified polymorphism in three patients. Results: In one patient, we have found a single base change, g.31483A>T in Exon 10, which changes the nucleotide from Adenine to Thymine (A31483T), while in the second patient, we have identified an intronic change at g.35690A>G in Exon 10, which changes the nucleotide from Adenine to Guanine (A35690G) and in the third patient DNA sequence analysis identified an intronic change at g.35587A>G Exon 10, which changes the nucleotide from Adenine to Guanine (A35587G). Discussion and Conclusion: Although the partial loss of ATXN3 function may also contribute, the disease mechanism in MJD is believed to be a toxic gain-of-function. Several pathogenic cascades have been reported to be triggered by mutant ATXN3, but the critical molecular events driving MJD pathogenesis stay unresolved. While significant developments in studies have enhanced our knowledge of MJD, there is presently a lack of preventive treatment. Results presented here also expand our knowledge about MJD found in the eastern UP population.

Background: In the absence of primary care and prevailing associated social stigma, many patients of neural tube defects (NTDs) from remote areas die without getting any treatment. The high number of such untreated cases and unregistered deaths in these areas made us ponders to the fact that tertiary care center-based studies do not represent the true incidence of NTDs. Materials and Methods: We did a population-based survey for NTDs births of rural areas from Jaunpur to Ghazipur district in Eastern Uttar Pradesh. These districts are among the least developed areas of Northern India in Uttar Pradesh among other 17. Results: The data show an incidence of 7.48 per 1000 live births. Conclusion: Besides of unawareness regarding periconceptional folate supplementation, intensive effort is required to design adequately powered studies to search other key factors responsible for high prevalence of NTDs.

Introduction: Cigarette smoking is worldwide problem which can be correlated with teratogenicity. Tocopheryl acetate plays as an antioxidant against the oxidative stress evolved by cigarette smoke exposure during pregnancy. Aim: To study the effect of maternal exposure to cigarette smoke and Tocopheryl acetate on fetuses of mice. Materials and Methods: Pregnant mice randomly assigned to different groups (Group I (control), Group II (Tocopheryl acetate), Group III(soyabean oil used as vehicle for Tocopheryl acetate), Group IV (Cigarette smoke Exposed), Group V (Cigarette smoke exposed plus Tocopheryl acetate) and Group VI(Cigarette smoke exposed plus soyabean oil) were exposed to cigarette smoke 3 times a day for 20 minutes each time and Tocopheryl acetate with dose of 200mg/kg/day in 0.3ml of soyabean oil as vehicle orally through oral gavage from the 5th day of gestation to 15th day. Results: Cigarette smoke exposed mice showed significant fetal weight loss, resorption, placental anomalies, severe growth retardation, venous congestion, haemorrhage, limbs defects and enphalocele. Negligible abnormalities were seen among the control and Tocopheryl acetate group. Cigarette smoke exposed group with Tocopheryl acetate exhibited weight gain among the fetus as well as no gross abnormalities. The oxidative stress was significantly increased by increasing Malondialdehyde (MDA) 293±81.57 µmol/mg (p

Lumbricals are very small muscles in the hand but their role is much more important for the fine movements of fingers. So any variation in the lumbrical muscles has great clinical significance. During routine dissection of the right hand of a 55 year old male Indian cadaver, an accessory belly to second lumbrical was observed while in the left hand no variation observed. This accessory belly united with the second lumbrical. This variation might be useful during the routine clinical practices and hand surgeries. Keywords - Lumbrical, accessory belly, origin, flexor digitorum profundus, carpal tunnel syndrome.

Supplemental information includes a table that illustrates DNA copy alterations identified using micro-array copy number analysis, the photos of affected individuals, the illustration of beadarray analysis of SNP data, used to identify the chromosomal subregion duplication and deletion events present in family members, and FISH karyotype analyses. (DOCX 1037Â kb)