Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause different forms of distal arthrogryposis. Some observations suggest that these dominant mutations induce a gain-of-function effect on the channel. Here, we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor impairment, and a progressive form of contractures involving the distal joints that is distinct from that found in patients with dominant mutations in PIEZO2. These siblings also displayed deficits in proprioception and touch sensation. Whole-exome sequencing performed in the three affected siblings revealed the presence of a rare homozygous variant (c.2708C>G; p.S903*) in PIEZO2. This variant is predicted to disrupt PIEZO2 function by abolishing the pore domain. Sanger sequencing confirmed that all three siblings are homozygous whereas their parents and an unaffected sibling are heterozygous for this variant. Recessive mutations in PIEZO2 thus appear to cause a progressive phenotype that overlaps with, while being mostly distinct from that associated with dominant mutations in the same gene.

Satisfaction of antenatal mothers with the care provided by nurse-midwives in an urban secondary care unit.

BACKGROUND: The satisfaction of antenatal women to antenatal services has rarely been studied in India. In a nation with a maternal mortality ratio of 178/100,000 live births, it is crucial to explore all avenues to reduce it. AIMS: Our study aims to assess the pregnant women's satisfaction with regard to antenatal care services provided by nurse-midwives in an urban health center in South India. METHODS: We administered a satisfaction of care questionnaire to 200 consecutive antenatal women attending the nurse run antenatal clinics from April 2014 to November 2014. The date entry was done using Epi-Data system and the analysis by SPSS version 16. STATISTICAL ANALYSIS USED: The absolute distribution of each of the question in the satisfaction of care questionnaire was calculated as proportions. The relationship between satisfaction of care and parity, number of visits, years of experience of the care provider and mother's education was tested using Mann-Whitney test for two independent groups. RESULTS: The mean age of the mothers was 23.5 years. More than 95% of the mothers expressed satisfaction with the number of antenatal visits components of antenatal care. Only 31.8% of the mothers were satisfied with the health education on family planning. There was no significant relationship between satisfaction of care and parity of mothers or years of experience of care provider. CONCLUSIONS: Pregnant women attending a nurse run antenatal care service have positively expressed satisfaction of care provided therein.

Validation of a rapid neurodevelopmental assessment tool for 10- to 16-year-old young adolescents in Bangladesh.

OBJECTIVE: To validate a Rapid Neurodevelopmental Assessment (RNDA) tool for use by child health professionals to determine neurodevelopmental impairments (NDIs) in young adolescents aged 10-16 years in Bangladesh. STUDY DESIGN: In a convenience sample of community children (n = 47), inter-rater reliability was determined between four testers, and concurrent validity was determined by simultaneous administration of an intelligence quotient (IQ) test (Wechsler Intelligence Scale for Children, Revised) by a child psychologist. RESULTS: Inter-rater reliability was excellent between the testers on the 47 children administered the RNDA (kappa = 1.00). Significantly lower IQ scores were obtained in those identified with 'any (>1) NDI' (n = 34) compared with those with no NDI (n = 13) on Verbal IQ (P-value < 0.0001), Performance IQ (P-value < 0.0001) and Full-scale IQ (P-value < 0.0001) scores on the Wechsler Intelligence Scale for Children, Revised. CONCLUSION: The RNDA shows promise as a tool for use by child health professionals for identifying NDIs in young adolescents aged 10-16 years. A larger study sample is needed to determine its usefulness for identification of some impairments not found in the study population, i.e. gross motor, fine motor, hearing and seizures.

Maternal and fetal outcome in pre-eclampsia in a secondary care hospital in South India.

BACKGROUND: Hypertensive disorders in pregnancy are one of the common causes for perinatal and maternal morbidity and mortality in developing countries. Pre-eclampsia is a condition which typically occurs after 20 weeks of gestation and has high blood pressure as the main contributing factor. The aim was to study the effects of pre-eclampsia on the mother and the fetus in rural South Indian population. MATERIALS AND METHODS: This was a descriptive study conducted in a secondary level hospital in rural South India. A total of 1900 antenatal women were screened for pre-eclampsia during the period August 2010 to July 2011 to study the effects on the mother and fetus. RESULTS: Of the 1900 women screened 93 were detected with pre-eclampsia in the study. Among these, 46.23% were primigravida, 30.1% belonged to socio-economic class 4 and 48.8% were among those with BMI 26-30. The incidence of severe pre-eclampsia was higher in the unregistered women. The most common maternal complication was antepartum hemorrhage (13.9%) and the most common neonatal complication was prematurity (23.65%). CONCLUSIONS: Treating anemia and improving socioeconomic status will improve maternal and neonatal outcome in pre-eclampsia. Antenatal care and educating women on significance of symptoms will markedly improve perinatal morbidity and mortality. Prematurity, growth restriction and low birth weight are neonatal complications to be anticipated and dealt with when the mother has pre-eclampsia. A good neonatal intensive care unit will help improve neonatal outcomes.

The association between exposure to aflatoxin, mutation in TP53, infection with hepatitis B virus, and occurrence of liver disease in a selected population in Hyderabad, India.

Aflatoxin B1 is a carcinogen produced by Aspergillus flavus and a few related fungi that are often present in many food substances. It interacts synergistically with Hepatitis B or C virus (HBV, HBC) infection, thereby increasing the risk of hepatocellular carcinoma (HCC). The G to T transversion at the third position of codon 249 (AGG) of the TP53 gene, substituting arginine to serine, is the most common aflatoxin-induced mutation linked to HCC. This study examined mutations in TP53 by PCR-RFLP analysis and by measurement of an aflatoxin-albumin adduct as a biomarker for human exposure of aflatoxin B1 by indirect-competitive ELISA, in samples collected from healthy controls as well as patients with hepatitis in Hyderabad, Andhra Pradesh, India. A total of 238 blood samples were analyzed the presence of the G to T mutation. Eighteen of these samples were from HBV-positive subjects, 112 of these were from subjects who had HBV-induced liver cirrhosis, and 108 samples were taken from subjects without HBV infection or liver cirrhosis (control group). The G to T mutation was detected in 10 samples, 8 of which were from subjects positive to both HBV and aflatoxin-albumin adduct in blood (p=0.07); whilst two were from individuals who were HBV-negative, but positive for the aflatoxin-albumin adduct (p=0.14). The aflatoxin-albumin adduct was detected in 37 of 238 samples, 29 samples were from HBV-positive subjects and eight were from individuals who were positive for both HBV and the TP53 mutation (p=0.07). The concentration of aflatoxin-albumin adduct ranged from 2.5 to 667pg/mg albumin. Despite low incidence of the G to T mutation, its detection in subjects positive to aflatoxin-adducts is indicative of a strong association between the mutation and aflatoxin exposure in India.

Pyrolysis decomposition of tamarind seed for alternative fuel.

The conversion of tamarind seed into bio-oil by pyrolysis has been taken into consideration in the present work. The major components of the system were fixed bed fire-tube heating reactor, liquid condenser and collector. The crushed tamarind seed in particle form was pyrolyzed in an electrically heated fixed bed reactor. The products were liquid, char and gasses. The parameters varied were reactor temperature, running time, gas flow rate and feed particle size. The maximum liquid yield was 45 wt% at 400°C for a feed size of 3200 µm diameter at a gas flow rate of 6l/min with a running time of 30 min. The obtained pyrolysis liquid at these optimum process conditions were analyzed for physical and chemical properties to be used as an alternative fuel. The results show the potential of tamarind seed as an important source of alternative fuel and chemicals as well.

Oxidative stress specifically downregulates survivin to promote breast tumour formation.

BACKGROUND: Breast cancer, a heterogeneous disease has been broadly classified into oestrogen receptor positive (ER+) or oestrogen receptor negative (ER-) tumour types. Each of these tumours is dependent on specific signalling pathways for their progression. While high levels of survivin, an anti-apoptotic protein, increases aggressive behaviour in ER- breast tumours, oxidative stress (OS) promotes the progression of ER+ breast tumours. Mechanisms and molecular targets by which OS promotes tumourigenesis remain poorly understood. RESULTS: DETA-NONOate, a nitric oxide (NO)-donor induces OS in breast cancer cell lines by early re-localisation and downregulation of cellular survivin. Using in vivo models of HMLE(HRAS) xenografts and E2-induced breast tumours in ACI rats, we demonstrate that high OS downregulates survivin during initiation of tumourigenesis. Overexpression of survivin in HMLE(HRAS) cells led to a significant delay in tumour initiation and tumour volume in nude mice. This inverse relationship between survivin and OS was also observed in ER+ human breast tumours. We also demonstrate an upregulation of NADPH oxidase-1 (NOX1) and its activating protein p67, which are novel markers of OS in E2-induced tumours in ACI rats and as well as in ER+ human breast tumours. CONCLUSION: Our data, therefore, suggest that downregulation of survivin could be an important early event by which OS initiates breast tumour formation.

Validation of a home-based neurodevelopmental screening tool for under 2-year-old children in Bangladesh.

BACKGROUND: Home-based screening to identify young children at risk for neurodevelopmental impairments (NDIs) is needed to guide the targeting of child neurodevelopmental intervention services in Bangladesh. This study aimed to validate such a tool for children under age 2 years. METHODS: A Developmental Screening Questionnaire was administered to mothers of children aged 0-<2 years in an urban community. Inter-rater reliability among the interviewers, who were high school graduates, was determined. All children who were screen positive and a proportion of screen negatives were subsequently assessed for NDIs by professionals. Sensitivity and specificity were calculated by comparing screening with assessment results. RESULTS: Mean kappa coefficient of agreement among interviewers was 0.95. A total of 197 children were screened, of whom 17% screened positive. Fifty-one children, including 24 screen negatives, were assessed for NDIs. Screen-positivity was significantly different between income groups (P = 0.019), and higher in stunted children (odds ratio = 5.76, 95% confidence interval = 1.72-19.28), indicating good discriminant validity Specificity was excellent (84-100%) for all developmental domains. Sensitivity was 100% for vision and hearing; 70% for speech; and 63%, 53%, 48%, and 45% for gross motor, behaviour, fine motor and cognitive impairments, respectively. CONCLUSION: A tool for screening <2-year-old children at risk for NDIs showed high specificity; and was able to identify all children at risk for vision and hearing impairments, nearly three-fourths with speech impairments, two-thirds with gross motor impairments, and about half with behavioural, cognitive and fine motor impairments. The Developmental Screening Questionnaire tool has potential for use by frontline workers to screen large populations and to link to definitive assessment as well as intervention services.

Surgical-orthodontic management of an adult skeletal Class III malocclusion with canine substitution.

Management of missing lateral incisors requires thorough treatment planning and an interdisciplinary approach. Occlusion and alignment are significant considerations. Three treatment options are available for replacing missing lateral incisors: canine substitution, tooth-supported restorations, and single-tooth implants. The ideal treatment is the one that satisfies the esthetic and functional requirements of the patient. The pros and cons of the various treatment options must be meticulously analyzed before arriving at a decision. This article closely examines patient selection and illustrates the importance of interdisciplinary treatment planning in an adult treated with canine substitution and orthognathic surgery.

Current trends in miniscrew utilization among Indian orthodontists.

BACKGROUND: There is limited data about current utilization of miniscrews in orthodontic practices in India. The purpose of this survey was to obtain information on clinical utilization of miniscrews among orthodontists in India. MATERIALS AND METHODS: A survey questionnaire was prepared and mailed to 2100 qualified and registered orthodontists in India. RESULTS: A total of 1691 orthodontists responded to the survey, with a response rate of 80.52%. Among them, 952 (56.3%) had never used miniscrews in their clinical practice. Seven hundred and thirty-nine (739) (43.7%) had utilized miniscrews in their treatment, at some point of time. Among the orthodontists who used miniscrews, 463 (62.65%) used a surgical guide for positioning the miniscrews and 276 (37.35%) placed miniscrews without a surgical guide. Six hundred and thirty-four (634) (85.79%) orthodontists placed the miniscrews personally while 105 (14.21%) utilized the help of other specialists for placing the miniscrews. Among the orthodontists who used miniscrews, 76 (10.28%) utilized the help of oral surgeon to place the miniscrews while 29 (3.93%) utilized the help of periodontists to do the procedure. CONCLUSION: Miniscrews are a useful addition to the orthodontic armamentarium. The major indication for miniscrew was indirect anchorage in critical anchorage cases. The most important factors in determining the clinical utilization of miniscrews as a part of the treatment modality depends upon operator training and skill; fear of complications, patient refusal to accept miniscrews and the clinician's preference for conventional methods without unnecessary invasive procedure.

A new chromone from Cassia nodosa.

A new chromone named as 5,4'-dihydroxy-7-methyl 3-benzyl chromone (1) along with three known flavonoid compounds as unsubstituted flavone, kaempferol-3-o-rhamnoside and quercetin-3-o-arabinoside have been isolated from the leaves of Cassia nodosa. Their structures have been established by means of chemical and spectral evidences (IR, UV, 1H-NMR, 13C-NMR and mass spectra).

A new chromone from Ficus lyrata.

A new chromone, named 5,6-dihydroxy-2-methylchromone (FL-2), along with seven known flavonoids, 5-hydroxy-7,3,3',4'-tetramethoxyflavone (FL-3), 5,4'-dihydroxy-6,7,8-trimethoxyflavone (FL-4), 5,4'-dihydroxy-7,8-dimethoxyflavone (FL-5), 4-methoxychalcone (FL-6), 7,4'-dimethoxyapigenin (FL-7), 5,7,4'-trihydroxy-2',3',6'-trimethoxyisoflavone (FL-8 a rare flavonoid), acacetin-7-O-glucoside (FL-9) and acacetin-7-O-neohesperidoside (FL-10), and beta-sitosterol-D-glucoside (FL-1) have been isolated from the leaves of Ficus lyrata. Their structures have been established on the basis of chemical and spectral evidence (IR, UV, 1H NMR, 13C NMR and mass spectra).

A new biflavonoid from leaves of Garcinia nervosa.

The isolation of a new biflavonoid, identified as I-3, II-3, I-5, II-5, I-7, II-7, I-4', II-4'-octahydroxy [I-2', II-2'] biflavone, from the leaves of Garcinia nervosa is reported. The structure was established by chemical and physical means (IR, UV, 1H-NMR, 13C-NMR data).

Effect of DDVP on the histology and AChE kinetics of heart muscles of Rattus norvegicus.

The LD50 of DDVP (Dichloro, dimethyl vinyl phosphate) for Rattus norvegicus was 21.4 mg/kg. b.w. The two sub lethal doses 1 and 3 mg/kg showed many histopathological changes in the working heart muscles and also showed significant necrosis in this S-A node, A-V node and bunble of His of the cardiac conducting system. These sublethal doses of the OP pesticide caused a significant inhibition of AChE. The maximum inhibition was noticed at the highest dose. The enhanced inhibitory constant Km and ACh contents in the heart muscles with the increase of dose showed inhibition of enzyme. The constant Vmax showed competitive nature of inhibition. A significant inhibition of AChE (69%) indicated that DDVP is a strong inhibitor of enzyme in heart.

Biological role of anions (sulfate, nitrate, oxalate and acetate) on the pharmacological properties of cobalt(II) and nickel(II) chelates with thienoyl- and furenoyl-derived compounds.

Biologically active complexes of cobalt (II) and nickel (II) with thienoyl- and furenoyl-derived Schiff-base ligands having the same metal ion but different anions such as sulfate, nitrate, oxalate and acetate have been prepared and characterized. In order to evaluate the role of anions on their pharmacological properties the synthesized complexes have been screened against bacterial species, Escherichia coli, Staphylococcus aureus and Pseudomonas aeruginosa and results have been reported.