Genetic analysis of the postsynaptic transmembrane X-linked neuroligin 3 gene in autism

Autism is a complex neurodevelopmental disorder, the prevalence of which has increased drastically in India in recent years. Neuroligin is a type I transmembrane protein that plays a crucial role in synaptogenesis. Alterations in synaptic genes are most commonly implicated in autism and other cognitive disorders. The present study investigated the neuroligin 3 gene in the Indian autistic population by sequencing and in silico pathogenicity prediction of molecular changes. In total, 108 clinically described individuals with autism were included from the North Karnataka region of India, along with 150 age-, sex-, and ethnicity-matched healthy controls. Genomic DNA was extracted from peripheral blood, and exonic regions were sequenced. The functional and structural effects of variants of the neuroligin 3 protein were predicted. One coding sequence variant (a missense variant) and four non-coding variants (two 5'-untranslated region [UTR] variants and two 3'-UTR variants) were recorded. The novel missense variant was found in 25% of the autistic population. The C/C genotype of c.551T>C was significantly more common in autistic children than in controls (p = 0.001), and a significantly increased risk of autism (24.7-fold) was associated with this genotype (p = 0.001). The missense variant showed pathogenic effects and high evolutionary conservation over the functions of the neuroligin 3 protein. In the present study, we reported a novel missense variant, V184A, which causes abnormal neuroligin 3 and was found with high frequency in the Indian autistic population. Therefore, neuroligin is a candidate gene for future molecular investigations and functional analysis in the Indian autistic population.

Mutation analysis and characterisation of F9 gene in haemophilia- B population of India

Background@#Hemophilia B (HB) is an X-linked bleeding disorder resulting from coagulation factor IX defects. Over 3,000 pathogenic, HB-associated mutations in the F9 gene have been identified. We aimed to investigate the role of F9 variants in 150 HB patients using sequencing technology. @*Methods@#F9 gene sequences were amplified from peripheral blood-derived DNA and sequenced on an Applied Biosystems (ABI) 3500 Sanger sequencing platform. Functional and structural predictions of mutant FIX were analyzed. @*Results@#Among 150 HB patients, 102 (68%), 30 (20%), and 18 (12%) suffered from severe, moderate, and mild HB, respectively. Genetic analysis identified 16 mutations, including 3 novel mutations. Nine mutations (7 missense and 2 stop-gain) were found to be pathogenic.Only 3 mutations (c.127C＞T, c.470G＞A, and c.1070G＞A) were associated with different severities. While 2 mutations were associated with mild HB cases (c.304C＞T and c.580A＞G), 2 (c.195G＞A and c.1385A＞G) and 3 mutations (c.223C＞T, c.1187G＞A, and c.1232G＞A) resulted in moderate and severe disease, respectively. Additionally, 1 mutation each was associated with mild-moderate (c.*1110A＞G) and mild-severe HB disease (c.197A＞T), 4 mutations were associated with moderate-severe HB cases (c.314A＞G, c.198A＞T, c.676C＞T, and c.1094C＞A). FIX concentrations were lower in the mutated group (5.5±2.5% vs. 8.0±2.5%). Novel p.E66D and p.S365 mutations were predicted to be pathogenic based on changes in FIX structure and function. @*Conclusion@#Novel single nucleotide polymorphisms (SNPs) largely contributed to the pathogenesis of HB. Our study strongly suggests that population-based genetic screening will be particularly helpful to identify risk prediction and carrier detection tools for Indian HB patients.

Prevalence of dengue viral and malaria parasitic co-infections in an epidemic district, Angul of Odisha, India: An eco-epidemiological and cross-sectional study for the prospective aspects of public health

The co-existence of dengue and malaria infection in an individual and the primary and secondary dengue infection during co-infection were assessed. Over 1 year, 1980 blood samples were collected from suspected cases of dengue fever and analyzed by rapid diagnostic test [RDT], enzyme-linked immunosorbent assay [ELISA] and polymerase chain reaction [PCR] methods to detect dengue infection. RDT and microscopic methods were used to detect malaria. Of the 1980 samples, only 22 [3.0%] cases were identified as dengue-malaria co-infection cases, out of which 13 were male and 9 were female. The highest number of confirmed cases were found during the hot and humid months of September and October [7 cases, 31.8%] and within the over 15 years age group. Of the cases of co-infection, dengue primary infection [21 cases, 95.5%] was significantly more common than dengue secondary infection [1 case, 4.5%] among all of the age groups. There were 12 cases of Plasmodium falciparum and 10 cases of Plasmodium vivax infection among malarial cases. A high prevalence of concurrence of dengue and malaria infection was recorded in this ecosystem. In light of the severity of co-infection and overlapping symptoms, a multidimensional diagnostic approach is suggested

Complete duplication of the urinary bladder: an extremely rare congenital anomaly

A case of complete bladder duplication with urethra duplication, diphallus, anorectal malformation and rightsided renal agensis with ipsilateral gonadal agenesisis was reported because of its rarity. Possible deranged embryology resulting in these anomalies has been reviewed with relevant hypothesis. The patient underwent several investigations and undergoing multistage surgical intervention

Comparative possession of Shiga toxin, intimin, enterohaemolysin and major extended spectrum beta lactamase [ESBL] genes in Escherichia coli isolated from backyard and farmed poultry

The present work was conducted to compare the occurrence of Escherichia coli possessing virulence and ESBL genes in backyard and farmed poultry. Three hundred and sixty samples from the poultry kept in backyard system and 120 samples from the farmed birds were collected from West Bengal, India. Among the E. coli isolates of backyard poultry [O2, O10, O25, O55, O60, O106, UT], none of them possessed any of the Shiga toxin genes and eight E. coli isolates [8/272; 2.9%] harboured eaeA gene alone. Whereas among the E. coli isolated from the farmed poultry [O17, O20, O22, O102, O114, O119, rough, UT], four isolates [4/78, 5.1%] harboured stx[1]/stx[2] gene and 11 isolates [11/78, 14.1%] possessed eaeA gene. None of the E. coli isolates from the backyard poultry harboured any studied ESBL gene. Whereas 29.4% of E. coli isolates from the farmed poultry were found to possess the ESBL genes

clinicodemographic study of lepra reaction in patients attending dermatology department of a tertiary care hospital in Eastern India

Objective To find the relative prevalence of lepra reactions among leprosy patients attending Dermatology out-patient department, the pattern of reactions in different types of leprosy and histopathological features of reaction.

Methods The study was an institution-based, longitudinal study. A total 316 leprosy cases attended the Dermatology out-patient department [OPD] of a tertiary care hospital in Eastern India.

Results Out of 316 leprosy patients, 58 [18.4%] were diagnosed to have lepra reactions and relative prevalence of type 1 and type 2 reaction was 10.4% and 7.9%, respectively. Among 58 patients, 50 fulfilled the inclusion criteria and were considered for final evaluation. Lepra reactions were common in patients over 30 years of age. There was a high male preponderance and the male to female ratio was 4.5:1. More than 60% of the patients belonged to the below poverty line. Farmers and laborers were more affected. Almost 62% of the patients were literates but most of them had primary education only. Type 1 reaction was more common in BT patients [50%], whereas type 2 reaction were more commonly seen in LL patients [32%]. Erythema and swelling of the skin lesions, neuritis and edema of hands and feet were common features of type 1 reaction. Fresh crops of tender evanescent nodules, joint pain, neuritis and fever were common in type 2 reaction. Classical histopathological features were present in all the 50 slides examined. In type 1 reaction patients, lymphocytic infiltration [96%], dermal edema [93%], epithelioid cells [78%] and Langhans type giant cells [15%] were the common histological findings. Edema and foamy macrophages were seen in all cases of type 2 reaction patients. However, polymorphonuclear leucocytes and vasculitis were seen in 21 [95%] and 16 [73%] patients, respectively.

Conclusion Lepra reactions, both type 1 and 2, occur in about 20% of leprosy patients. Early detection is warranted to avoid complications.

[Estimating microsatellite based genetic diversity in Rhode Island Red chicken]

This study aimed to estimate microsatellite based genetic diversity in two lines [the selected RIRS and control line RIRC] of Rhode Island Red [RIR] chicken. Genomic DNA of 24 randomly selected birds maintained at Central Avian Research Institute [India] and 24 microsatellite markers were used. Microsatellite alleles were determined on 6% urea-PAGE, recorded using GelDoc system and the samples were genotyped. Nei's heterozygosity and Botstein's polymorphic information content [PIC] at each microsatellite locus were estimated. Wright's fixation indices and gene flow were estimated using POPGENE software. All the microsatellite loci were polymorphic and the estimated PIC ranged from 0.3648 [MCW0059] to 0.7819 [ADL0267] in RIRS and from 0.2392 [MCW0059] to 0.8620 [ADL0136] in RIRC. Most of the loci were highly informative [PIC>0.50] in the both lines, except for five loci in RIRS and six loci in RIRC line. Nei's heterozygosity per locus ranged from 0.4800 [MCW0059] to 0.8056 [ADL0267] in RIRS and from 0.2778 [MCW0059] to 0.875 [ADL0136] in RIRC. Out of 24 loci, 15 [62.5%] in RIRS and 14 loci [58.33%] in RIRC revealed moderate to high negative FIS index indicating heterozygote excess for these loci in corresponding lines, but the rest revealed positive FIS indicating heterozygosity deficiency. A mean FIS across the both lines indicated overall 10.77% heterozygosity deficit and a mean FIT indicated 17.19% inbreeding co-efficient favoring homozygosity over the two lines. The mean FST indicated that 10.18% of the microsatellite variation between the two lines was due to their genetic difference.

Predictive factors for residual tumor and tumor upstaging on relook transurethral resection of bladder tumor in non-muscle invasive bladder cancer

Relook transurethral resection of bladder tumor [TURBT] improves the diagnostic and therapeutic efficacy of primary TURBT. However, it is still not established as to which category of patients would benefit most from this repeat invasive procedure. This prospective interventional study was designed to identify the category of patients with non-muscle invasive bladder cancer who may benefit from a routine relook procedure. A total of 52 consecutive patients with biopsy proven non muscle invasive bladder cancer on primary TURBT underwent a relook TURBT between March 2011 and September 2012. The incidence of residual tumor and tumor upstaging on relook procedure was correlated with various histopathological [stage, grade, CIS, presence of muscle] and cystoscopic [type and focality of tumor, any apparent field change] parameters on primary TURBT. Out of the total 52 patients, 23 [44.2%] had a residual tumor on relook TURBT. 12 [23.1%] were upstaged [of these 9 i.e. 17.3% to muscle invasion]. While most of the parameters studied showed a positive correlation with incidence of residual tumor and upstaging to muscle invasion, statistical significance [for both] was reached only for tumor stage [P = 0.028 and 0.010], tumor grade [P = 0.010 and 0.002] and tumor type [solid vs. papillary; P = 0.007 and 0.001]. Carcinoma in situ showed a significant correlation with incidence of residual tumor [P = 0.016] while the absence of muscle in the primary TURBT specimen was significantly associated with upstaging to muscle invasive disease [P = 0.018]. The data was analyzed using SPSS software v. 16.0. Relook TURBT may be especially recommended for high grade and T1 tumors and tumors with a solid/sessile appearance on primary TURBT especially when deep muscle was absent in the primary TURBT specimen

Perioperative management of patients with tricuspid atresia and univentriclular congenital cardiac defect

Complex congenital heart diseases like univentricular cardiac defects are relatively common. Tricuspid atresia [TA] with hypoplastic right ventricle is one such univentricular congenital defect which if not corrected surgically leads to fatality. Palliative bidirectional Glenn procedure is usually done as initial measure for such patients. We present this case report based discussion to enumerate the challenges faced by the anesthesiologists while managing such cases for bidirectional Glenn shunt surgery [BDGS] during perioperative period

Potentialities of newly isolated Bacillus subtilis and Lactobacillus sp for curd preparation and a comparative study of its physico-chemical parameters with other marketed curds.

Two Bacillus sp. were isolated from the local fermented milk and identified on the basis 16S rRNA sequence profile as Bacillus subtilis AKL1 and by biochemical process as Lactobacillus acidophilus AKL2. These isolates were used as fresh inoculums for curd preparation individually and in combinations. Different physico-chemical and therapeutic properties of the newly prepared curd were examined and compared with marketed local (sweet and sour) and branded (Mother Dairy and Thackar) curds. The total hydrolyzed peptides, free amino acids, lactic acid were significantly higher, whereas, total solid, ash content, syneresis and free reducing sugar were lower in the curd prepared by a mixture of AKL1 and AKL2 (0.5:0.5, v/v). The antioxidant activity against ABTS+, DPPH•, OH• and Fe3+ were also higher in the newly formulated curd. Polyphenols (85.5µg/g), flavonoids (12.5µg/g) and free aromatic amino acids contents were also higher in AKL1+AKL2. All these components prevent excess protein oxidation that was revealed by SDS-PAGE. The curd also exhibited potent antimicrobial activity against some entero-pathogens like Clostridium perfringens, Escherichia coli, Shigella dysentery, Vibrio cholerae and Staphylococcus aureus. It can be concluded that the combination of these Lactobacillus sp. will be a fruitful inoculum for the preparation of curd having better health promoting effects.

Estudio comparativo entre conejos Chinchilla Soviético, una raza nativa local y un conejo híbrido negro, bajo condiciones agroclimáticas de la Región de Meghalaya, India / Comparative study among Soviet Chinchilla rabbits, an indigenous breed and a black hybrid rabbit under agro climatic conditions of the Meghalaya, India Region

This work had the aim to meet the demand of local tribal people of the North eastern hills (NEH) region and to evaluate the beneficial heterotic effects of crossbreeding, developing a black-coated rabbit through the crossing of Soviet Chinchilla and indigenous local rabbits, followed by selection and line breeding to maintain the exotic blood level at 50%. Afterwards, a comparative study was done analyzing the different performance traits of Soviet Chinchilla, indigenous local rabbit and the resulting hybrid black rabbits. Data analysis revealed breed-dependent (P < 0.01) effect on all productive traits except on live weight at 60 days. The hybrid black rabbit developed through crossbreeding and line breeding was better than both, the indigenous local rabbit and the Soviet Chinchilla rabbits in terms of live weight at 60, 75 and 90 days of age, live weight gain and average daily gain during 45 to 60 days, 60 to 75 days and 45 to 90 days of age. Overall, mean growth during the period of 45 to 90 days of age in black, local and Soviet Chinchilla rabbits was recorded to be 18.71 ± 0.11, 17.60 ± 0.16 and 16.23 ± 0.21 g per day, respectively. The average air temperature, maximum temperature, minimum temperature and relative humidity during the period of this experiment was 24.44°C, 27.16°C, 16.54°C and 66.16%, respectively. Finally, this research demonstrated that deliberate selection in rabbits leads to improvement in quantitative productive traits.

Los objetivos del presente estudio fueron satisfacer las demandas de carne de conejo de tribus de la región montañosa (NEH) de la India, y evaluar los efectos benéficos de la heterosis. Para lo cual fue necesario desarrollar un conejo de capa negra mediante mestizaje entre las razas Chinchilla Soviético y una nativa local vía selección y entrecruzamiento controlado de línea única, obteniendo un híbrido con niveles de sangre exótica del 50%. Conformada la estirpe, se analizaron comparativamente rasgos de desempeño productivo entre las razas Chinchilla Soviético, nativa local y su descendencia híbrida negra. Los resultados revelaron un impacto raza-dependiente (P < 0.01) sobre todos los parámetros productivos, con excepción del peso vivo a los 60 días. El híbrido desarrollado mediante mestizaje y apareamiento consanguíneo de línea única fue superior que los conejos de raza nativa local y Chinchilla Soviético en términos de peso vivo a los 60, 75 y 90 días de edad, en la ganancia de peso vivo y promedio de ganancia de peso diaria durante los periodos de 45-60, 60-75 y 45-90 días. Los promedios de crecimiento durante el periodo de 45-90 días entre los conejos raza híbrida negra, nativa local y Chinchilla Soviético registraron niveles de 18.71 ± 0.11, 17.60 ± 0.16 y 16.23 ± 0.21 g/día, respectivamente. Los promedios de temperatura media, máxima y mínima y humedad relativa fueron de 24.44°C, 27.16°C, 16.54°C y 66.16%, respectivamente. Esta investigación demostró que la selección deliberada en conejos conduce a una mejora de los rasgos productivos cuantitativos.

protective role of aegle marmelos on aspirin-induced gastroduodenal ulceration in albino rat model: a possible involvement of antioxidants

Gastro duodenal ulcer is a common disorder of the gastrointestinal tract. Several Indian medicinal plants have been traditionally and extensively used to prevent different diseases. In the present research studies, Bael fruit [Aegle marmelos [AM], family: Rutaceae] which are also called as Bilva in ancient Sanskrit was used as a herbal drug and its antioxidative role in aspirin- induced gastroduodenal ulceration in albino rat was evaluated using essential biochemical parameters. Mucosal thickness [MT], ulcer index [UI], different biochemical parameters, such as aspartate aminotransferase [AST], alanine aminotransferase [ALT], catalase [CAT], superoxide dismutase [SOD], reduced glutathione [GSH], and lipid peroxidation [LPO] were measured in all the groups, to study the possible involvement of antioxidants with gastroduodenal protection. A significant decrease in MT, SOD and CAT activities and GSH level and a significant increase in UI, AST, ALT, and ALP activities and LPO level were observed in aspirin treated stomach and duodenum of albino rats. Pretreatment with AM fruit pulp extract for 14 consecutive days showed the reverse effects of aspirin suggesting gastro-duodenal protective and anti- ulcerogenic properties of AM through its antioxidant mechanism

Gastroprotective effect of Achyranthes aspera Linn. leaf on rats

OBJECTIVE@#The study was aimed at evaluating the antiulcer activity of ethanolic extract of Achyranthes aspera (EEAA) leaf.@*METHODS@#The anti-ulcer assays were performed on pylorus ligation and chronic ethanol induced ulcer model. The effects of the EEAA on gastric content volume, pH, free acidity, total acidity and ulcer index were evaluated.@*RESULTS@#The percentage of ulcer protection (59.55% and 35.58%) was significantly (P < 0.001) higher in the groups treated with the high dose of EEAA (600 mg/kg), it also reduced the volume of gastric juice and total acidity whereas, gastric pH was increased significantly.@*CONCLUSIONS@#The results of this study show significant gastroprotective activity of EEAA may be due to presence of phyto-constituents like flavanoids, saponins and tannins.

Fine needle aspiration cytology in the diagnosis of superficial lymphadenopathy in children and adolescents: an analysis of 869 cases

Fine needle aspiration cytology [FNAC] in children has gained acceptance gradually and is currently used extensively as an initial diagnostic tool. This study was undertaken to determine the value of FANC in peripheral lymphadenopathy in pediatric and adolescent patients in Kuwait. Retrospective. Mubarak Al-Kabeer Hospital, Kuwait. Eight hundred and sixty-nine children and adolescents [ranging from five months to 20 years] from January 2000 to September 2009. FNAC. The spectrum of disease of lymph nodes in pediatric and adolescent age groups, using FNAC. Out of the 4116 lymph node aspirates performed, the cytology reports of 869 [21.1%] pediatric aspirates were reviewed. There were 409 [51.3%] male and 388 [48.7%] female patients. Seventy-two [8.3%] were considered unsatisfactory. Out of the 797 [91.7%] satisfactory aspirates, reactive lymphoid tissue was reported in 616 cases [77.3%], lymphadenitis in 115 [14.4%], atypical cytology in 18 [2.3%], lymphoreticular malignancy in 46 [5.7%] and metastatic tumor in 2 [0.3%]. The lymphadenitis included 8, 66, 23 and 18 cases of necrosis only, granulomatous lymphadenitis, necrotizing granulomatous lymphadenitis and tuberculous lymphadenitis [where acid fast bacilli were detected respectively. FNAC of lymph nodes in children and adolescents is feasible and reliable. Majority of the nodes revealed reactive lymphoid tissue and helped allay the fears of parents thereby preventing unnecessary surgery

Anti-hyperglycemic and antinociceptive activity of methanol leaf and stem extract of Nypa fruticans Wurmb

Nypa fruticans Wurmb. [Arecaceae] is a mangrove palm well-known for its traditional uses by the local practitioners against different ailments in southern regions of Bangladesh. However, the plant is yet to be scientifically studied. The present study was done to evaluate the anti-hyperglycemic and antinociceptive potential ofmethanolic extract of leaf and stem of Nypa fruticans Wurmb. [MENF]. The anti-hyperglycemic activity was tested on glucose loaded hyperglycemic mice whereas antinociceptive activity was evaluated using a model of acetic acid-induced writhing in mice. The crude MENF was found to show significant oral anti-hyperglycemic activity on glucose loaded mice at every dose. Maximum anti-hyperglycemic activity was observed at a dose of 500 mg MENF/kg body weight, which was more than what was obtained with a standard drug glibenclamide at a dose of 10 mg glibenclamide/kg body weight. Significant antinociceptive activity was also demonstrated by MENF in acetic acid-induced writhing mice model. The extract caused a maximum of 39.88% [p<0.00l] inhibition of writhing at the dose of 600 mg/kg body weight, which was better than the result obtained with a standard drug [200 mg aspirin/kg body weight, 49.34% inhibition]. These findings indicate that MENF has significant anti-hyperglycemic and antinociceptive activity and thus have great potential as a source of natural products

Acute respiratory distress syndrome in poor prognostic germ cell tumor with multiple lung metastases: a case report

We report a case which is unique as this patient was diagnosed pathologically as adenocarcinoma of the endometrium but clinically progressed as germ cell tumor. This was evident by progressive and rapid raised tumor markers [BHCG and LDH] with the development of multiple bilateral lung metastases. She was treated by administrating low doses of systemic combination chemotherapy as per the literature. Unfortunately, she developed acute respiratory distress syndrome as the complication of treatment and died due to it

Secondary signet-ring cell adenocarcinoma of urinary bladder from a gastric primary

Primary bladder tumor is a frequent urological malignancy, whereas the incidence of secondary bladder tumor from a distant organ is quite rare. Secondary bladder neoplasms represent 1% of all malignant bladder tumors, of which distant metastases from stomach account for about 4% of cases. We present the case of a 30-year-old male who underwent partial gastrectomy for Signet-ring cell carcinoma of the stomach and presented 2 years later with hematuria. On computerized tomography scan, a bladder tumor was found which was resected cystoscopically. The histopathological examination revealed secondary Signet-ring cell adenocarcinoma of the urinary bladder

Immunoprophylactic potential of filarial glutathione-s-transferase in lymphatic filariaisis

OBJECTIVE@#To elucidates the immunoprophylactic potential of glutathion-s-transferase (GST) from cattle filarial parasite Setaria digitata (S. digitata) against lymphatic filariasis.@*METHODS@#GST was purified through affinity chromatography (SdGST) and chacterized by SDS-PAGE and Nano-LC MS/MS analysis. Antibody isotypes to SdGST were measured by ELISA. Antibody dependant cellular cytotoxicity (ADCC) was performed in vitro using sera from immunized animals and immune individuals. T-cell proliferation and cytokine response to SdGST in different groups of filariasis were measured. Immunoprophylactic potential of SdGST was evaluate in animal model.@*RESULTS@#SdGST exhibited 30-fold enhancement of enzyme activity over crude parasitic extract. It was found to be 26 kDa by SDS-PAGE. Nano LC-MS/MS analysis followed by blast search showed 100% homology with Dirofilaria immitis (D. immitis) and only 43% with Homo sapiens (H. sapiens). Immunoblotting analysis showed putatively immune individuals carry significant level of antibodies to SdGST as compared with microfilaraemics. Immunized sera and sera endemic normal could neutralize the enzymatic activity of SdGST and inducing in vitro cytotoxicity of microfilariae. Peripheral blood mononuclear cells (PBMC) from endemic normals upon stimulation with SdGST showed a mixed type of Th1/Th2 response. SdGST immunization clear microfilariae from circulation in S. digitata implanted mastomys.@*CONCLUSIONS@#The heterologous GST could be potentially developed as a vaccine candidate against lymphatic filarial parasite.