Healthy Mother Research Articles

Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension.

Although mutations in several genes have been reported in pulmonary arterial hypertension (PAH), most of PAH cases do not carry these mutations. This study aimed to identify a novel cause of PAH. To determine the disease-causing variants, direct sequencing and multiplex ligation-dependent probe amplification were performed to analyze 18 families with multiple affected family members with PAH. In one of the 18 families with PAH, no disease-causing variants were found in any of BMPR2, ACVRL1, ENG, SMAD1/4/8, BMPR1B, NOTCH3, CAV1, or KCNK3. In this family, a female proband and her paternal aunt developed PAH in their childhood. Whole-exome next-generation sequencing was performed in the 2 PAH patients and the proband’s healthy mother, and a BRCA1-associated protein (BRAP) gene variant, p.Arg554Leu, was identified in the 2 family members with PAH, but not in the proband’s mother without PAH. Functional analyses were performed using human pulmonary arterial smooth muscle cells (hPASMCs). Knockdown of BRAP via small interfering RNA in hPASMCs induced p53 signaling pathway activation and decreased cell proliferation. Overexpression of either wild-type BRAP or p.Arg554Leu-BRAP cDNA constructs caused cell death confounding these studies, however we observed higher levels of p53 signaling inactivation and hPASMC proliferation in cells expressing p.Arg554Leu-BRAP compared to wild-type BRAP. In addition, p.Arg554Leu-BRAP induced decreased apoptosis of hPASMCs compared with wild-type BRAP. In conclusion, we have identified a novel variant of BRAP in a Japanese family with PAH and our results suggest it could have a gain-of-function. This study sheds light on new mechanism of PAH pathogenesis.

“MANTRAS IN PREGNANCY- MONTHWISE”

In today world different forms of Supraja sanskar, garbha sanskar , some thing additional to the regular ANC care have become very popular amongst the People as well as Healthcare providers .Along with Yoga , Diet and medicines, Mantra and music are an integral part of all these programmes. Mantra-shakti is proven to be very powerful for pregnant women even in this materialistic world. It creates a high vibration, a sacred sound, and a deep, loving peace for yourself and your growing baby. Chanting mantras can uplift your soul and you may feel a close connection to specific mantras during pregnancy. This process is also known as ‘Garbha Sanskar’ as per ancient Indian tradition. In Garbhini Paricharya also, our texts have advised mangal swasti vachan for the garbhini to create positivity and ward off evil forces.
 Mantras generate positive energy and all the mantras have specific purposes. Chanting mantras provide peace of mind and purity at heart. Mantra is a powerful tool for peace and joy during these days of tremendous changes of pregnancy and motherhood and you must chant them throughout your pregnancy for an easy delivery and a healthy you and a healthy baby. Month wise mantras have also been described in our ancient texts. For eg. During the first month the fertilized ovum is in the liquid state and this process takes place through intercourse for the purpose of the birth of life this month is ruled by planet Venus. Hence Om Shukray Namah mantra should be chanted.
 
 Use of mantra chanting has positive effects and calming effects on the mother and the baby. The purpose of this article is to describe the different mantras and their effects in pregnancy. using mantra in pregnancy and in birth can create a healthy mother and baby and hence Supraja .

Healthy Mother & Child: Foundation of a Strong Nation.

Healthy Mother & Child: Foundation of a Strong Nation.

Maternal depression and its association with responsive feeding and nutritional status of infants: A cross-sectional study from a rural medical college in central India.

Context:Globally, around half of all under-5 deaths are attributable to undernutrition. The magnitude of child undernutrition in India is one of the highest in the world. Responsive feeding that has the potential to optimize nutrition and development depends on a “healthy mother”.Objectives:The objective of this study was to find out the magnitude and determinants of maternal depression among mothers of infants who attended immunization clinic in a rural medical college in central India and observe its association with infant-feeding practices and nutritional status of infants.Study Design:This was an analytical cross-sectional study.Materials and Methods:Study was conducted among consecutively chosen 300 mothers and their infants who visited the immunization clinic of hospital during May-September, 2016. Data were collected individually by interviewing each mother, and anthropometry of her infant was done. The mothers with depression were diagnosed according to the 10-item Edinburgh Postnatal Depression Scale. Magnitude of depression has been reported using frequency and percentage, whereas association has been studied using prevalence odds ratio with 95% confidence interval (CI) and logistic regression at 0.05 significance level.Results:The magnitude of maternal depression was 19% (95% CI 14.4-23.5). Mothers with depression had significantly higher odds for not indulging in responsive feeding. Maternal education had significant association with maternal depression after adjusting for other variables.Conclusions:Burden of maternal depression is high among mothers of infants who attended immunization clinic in a rural medical college in central India and is significantly associated with nonresponsive feeding practices.

The Influence of Fetal Head Circumference and Fetal Weight Assessed by Intrapartum Ultrasound on Labor Outcome

Background: birth represents one of the most important of all the experiences of the human race. Despite the complexity and sophistication of modern obstetrics, it is important to remember the simple objective of every pregnancy, namely the delivery of healthy baby to healthy mother. During the last decade, assessment of prolonged second stage has been incorporated into the standard routine antepartum and intrapartum evaluation of labor.Objective: Theaimofthepresentstudywastodetermineiffetalheadcircumferenceandfetalweightcould predict the rate of caesarian section and vaginal deliveries in primigravidas women in labor. Patients and methods: The study is a prospective cohort study that was conducted at Alexandria Police Hospital maternity labor ward from April 2018 to December 2018. One hundred pregnant parturient admitted to the labor ward of Alexandria Police Hospital for delivery were participated in this study according to specific inclusion criteria. Results: The present study assessed ultrasonographically the head circumference and fetal weight as predictive values on labor outcome. The receiver operator curve (ROC) showed that these were good predictors of mode of delivery (sensitivity of 85 % and specificity of 92.6 %). Conclusion: The numerical data have a significant relation between intra partum head circumference and fetal weight relative to maternal pelvic diameter and the incidence of primary caesarian section, maternal and fetal complications. So measurement of intrapartum head circumference and fetal weight are good predictors of labor outcome.

The Influence of Fetal Head Circumference and Fetal Weight Assessed by Intrapartum Ultrasound on Labor Outcome

Background: birth represents one of the most important of all the experiences of the human race. Despite the complexity and sophistication of modern obstetrics, it is important to remember the simple objective of every pregnancy, namely the delivery of healthy baby to healthy mother. During the last decade, assessment of prolonged second stage has been incorporated into the standard routine antepartum and intrapartum evaluation of labor.Objective: Theaimofthepresentstudywastodetermineiffetalheadcircumferenceandfetalweightcould predict the rate of caesarian section and vaginal deliveries in primigravidas women in labor. Patients and methods: The study is a prospective cohort study that was conducted at Alexandria Police Hospital maternity labor ward from April 2018 to December 2018. One hundred pregnant parturient admitted to the labor ward of Alexandria Police Hospital for delivery were participated in this study according to specific inclusion criteria. Results: The present study assessed ultrasonographically the head circumference and fetal weight as predictive values on labor outcome. The receiver operator curve (ROC) showed that these were good predictors of mode of delivery (sensitivity of 85 % and specificity of 92.6 %). Conclusion: The numerical data have a significant relation between intra partum head circumference and fetal weight relative to maternal pelvic diameter and the incidence of primary caesarian section, maternal and fetal complications. So measurement of intrapartum head circumference and fetal weight are good predictors of labor outcome.

SA13 - INVESTIGATION OF NOVEL RARE VARIANTS IN NRXN1 CONTRIBUTES TO THE INCREASED RISK OF AUTISM SPECTRUM DISORDERS AND SCHIZOPHRENIA

Background NRXN1 is a transmembrane protein having a fundamental role in synaptogenesis, synaptic maintenance, neurotransmitter release, and the function of voltage-gated calcium channels in the synapses of brainstem and neocortex. Impairments in NRXN1 caused by genetic variants are thought to be critical for the pathomechanisms in neuropsychiatric disorders including autism spectrum disorders and schizophrenia. Methods In this study, we conducted exon-targeted resequencing of the NRXN1 gene with next-generation sequencing technology in 562 Japanese patients (192 with idiopathic autism and 370 with schizophrenia). We then performed in silico analyses, trio analyses, and association analyses on 1,892 cases (381 autism and 1,511 schizophrenia) and 1,291 controls with these variants. Results We detected six heterozygous variants with allele frequencies of ≤1%. We regarded three missense variants (p.T777M, p.D812G, p.R896W) as novel ones because they were predicted to be damaging based on in silico predictions and because each was not registered in either HGVD or iJGVD, the Japanese public databases. Among these three cases, two involved transmission from a healthy mother to her autistic son, and one involved transmission from a healthy mother to her schizophrenia daughter. We found no statistically significant association for any of three rare point variants in NRXN1 with case-control analysis. Discussion We explored the role of rare NRXN1 variants in Japanese neuropsychiatric disorders. To assess the impact of the variants discovered here, further investigation by sample size expansion and biological analysis will be performed.

A Novel Mutation in a Newborn Baby Leading to Glycogen Storage Disease Type Ia.

Glycogen storage disease type Ia (GSD1A) is caused by mutations in the G6PC gene. The G6PC gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Hepatomegaly is one of the important clinical manifestations of the disease. A 23-day-old girl was admitted to the hospital due to respiratory distress. Her physical examination was normal except for tachypnea. She had hypoglycemia, lactic academia, hyperlipidemia and hyperuricemia. With these clinical findings, GSD1A was considered in the patient and the diagnosis was genetically confirmed. By direct sequencing of the G6PC gene, we identified a novel homozygous variation (c.137T>G/p.Leu46Arg) in the patient and the healthy mother and father were heterozygotes for the variant. Here we present a case with a novel homozygous missense mutation c.137T>G/p.Leu46Arg in the G6PC gene leading to GSD1A clinical findings except early hepatomegaly. These findings expand the spectrum of causative mutations, and clinical findings in GSD1A.

Effectiveness of intervention program in improving maternal reproductive health practices among the rural poor of Bangladesh

Nutrition education, Nutritional knowledge, Sanitary and hygiene practice Reproductive and sexual ill-health accounts for 20% of the global burden of all ill-health for women and 14% for men (WHO). In Bangladesh, maternal mortality appears to be declining; however, with at least 194 maternal deaths per 100,000 births, the country still has one of the highest maternal mortality ratios in the world and the highest in South Asia. The government of Bangladesh is widely described as consistently supportive of maternal health, despite several recent changes in power. The government has enacted policies in support of maternal and newborn health along with several other policies in their development. However, many stakeholders feel that the policy commitment of the government has not translated into additional capacity or funding on the ground. Here, an attempt has been to observe where we are now and what to do for the achievement of Millennium Development Goals. A quasi experimental study was conducted by a non-government organization (BRAC) to assess the socio-demographic characteristics, environmental conditions, and obstetric information and family planning methods along with effectiveness of interventions on various issues of reproductive health. Most of the respondent was below 25 years of age (58.2%) with not participating in any income generating activities (96.5%). Majority of them (31.5%) did not complete their primary education. Family planning was adopted by 63.8% study population. A very good proportion of mother (71.4%) received ANC during their last pregnancy. A healthy child is the future of the nation which can be achieved by a healthy mother. Still delivery by skilled birth attended is poor. People still far behind to adopt family planning. Intervention programs must focus on sensitizing people on family planning. Therefore, our country will not be in the list of highest maternal mortality country. Bangladesh J. Nutr. Vol. 28-31, December 2018, P: 9-18

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Biallelic variants in the AEBP1 gene cause a novel autosomal-recessive connective tissue disorder (CTD) reminiscent of Ehlers-Danlos Syndrome (EDS). The four previously reported individuals show considerable clinical variability. Unbiased high-throughput sequencing enables the rapid identification of additional cases for such rare entities. We identified the homozygous nonsense variant c.917dup, p.Tyr306* in AEBP1 using clinical exome sequencing in a female individual with previously unsolved CTD. Segregation testing confirmed homozygosity in the clinically affected brother and heterozygous carrier status in the healthy mother. Chromosomal microarray showed that the variant lies in a run of homozygosity, suggesting a common origin of this genomic segment. RT-PCR analysis in the mother revealed a monoallelic expression of the normal transcript supporting a nonsense-mediated mRNA decay and functional nullizygosity as disease mechanism. We describe two individuals from a fourth family with AEBP1-associated CTD. Our results further verify that autosomal-recessive inherited LOF variants in the AEBP1 gene cause clinical features of different EDS subtypes, but also of the marfanoid spectrum. As identification of further individuals is necessary to inform the clinical characterization, we stress the added value of exome sequencing for such rare diseases.

Infant Feeding Patterns and Eczema in Children in the First 6 Years of Life

To determine if different infant feeding patterns in the first 6 months of life increase the risk of eczema and/or skin allergy in children in the first 6 years of life.The sample population was originally derived from a national consumer opinion panel consisting of 500 000 households from throughout the United States from May 2005 to June 2007. Inclusion criteria included women ≥18 years of age in their third trimester of pregnancy, proficiency in English, a stable address for at least 11 months, a healthy mother and infant at birth, term or near-term birth (>35 weeks’ gestation), singleton birth, an infant weighing at least 5 lb and not in the ICU for >3 days. Exclusion criteria included serious long-term health problems that would affect feeding. Original questionnaires obtained in the Infant Feeding Practices Study II had a sample size of 2907 mother-infant dyads at birth and 1782 at month 12. In 2012, the mothers were recontacted about their child’s well-being at age 6 years. The final sample consisted of 1387 woman-child dyads who provided information on feeding practices in the first 6 months of life and participated in the 6-year follow-up survey.Data were extracted from the Infant Feeding Practices Study II in the United States and its 6-year follow-up. Questionnaires were completed prenatally, near birth, at 1 month, every other month from 2 to 7 months, and then every 7 weeks until age 12 months. Data that were collected included age at onset of eczema, maternal race, family history of eczema, maternal age during pregnancy, parity, maternal prepregnancy BMI, maternal education, marital status, maternal employment, poverty index, household smoking status, sex of infant, birth weight, mode of delivery, and season of delivery. Six different feeding patterns were identified: (1) direct breastfeeding for 1 month; (2) direct breastfeeding for 3 months; (3) direct breastfeeding and pump feeding for the first 3 months; (4) direct breastfeeding, pump feeding, and formula feeding in the first few months; (5) formula feeding for the first 2 to 3 months followed by additional solid food; and (6) formula feeding and solid food since age 1 month. Log-linear models were used to estimate prevalence ratios (PRs) of feeding patterns for infants after doctors diagnosed eczema and/or skin allergy in the first 6 years of life, adjusting for cofounders. Current eczema and/or skin allergy at year 6 of follow-up was used to characterize the disease.Children who received a combination of direct breast milk, pumped breast milk, and formula (pattern 4) had a statistically significant higher PR for eczema and/or skin allergy than children who were directly breastfed for the first 3 months of life (PR: 1.46; 95% confidence interval: 1.01–2.11) in the 6-year evaluation studies. Direct breastfeeding and pump feeding for the first 3 months (pattern 3) also revealed an increased PR; however, it was not statistically significant (PR: 1.26; 95% confidence interval: 0.85–1.89). Formula feeding introduced at birth had no higher risk for the development of eczema.Children who are directly breastfed for the first 3 months of life may have a decreased risk of eczema and/or skin allergy compared with children who drink breast milk both from a bottle and from the breast and are supplemented with formula.Breastfeeding is thought to provide better protection against allergic disease than formula feeding. However, there are several studies with inconclusive or conflicting results. In this study, the authors postulate that the inconsistencies are because the patterns of breastfeeding versus formula feeding are much more diversified. They suggest that pumped breast milk components may be altered in the freezing and reheating process, resulting in a loss of immunoglobulins and a reduction in lipase. The expression of milk may also introduce skin microorganisms into the milk. This large birth cohort study is 1 of few studies in which the trajectory of infant feeding with its relationship to the development of eczema and/or skin allergy in children is managed. These findings reveal the possible benefit of direct breastfeeding in the first 3 months of life in decreasing eczema and skin allergy. Although most pediatricians would argue that “breast is best,” how it is presented and whether it is with or without supplemental formula may affect the immune system in the gut and influence the development of eczema.

Facilitators for maternity waiting home utilisation at Attat Hospital: a mixed-methods study based on 45years of experience.

To describe facilitators for maternity waiting home (MWH) utilisation from the perspectives of MWH users and health staff. Data collection took place over several time frames between March 2014 and January 2018 at Attat Hospital in Ethiopia, using a mixed-methods design. This included seven in-depth interviews with staff and users, three focus group discussions with 28 users and attendants, a structured questionnaire among 244 users, a 2-week observation period and review of annual facility reports. The MWH was built in 1973; consistent records were kept from 1987. Data analysis was done through content analysis, descriptive statistics and data triangulation. The MWH at Attat Hospital has become a well-established intervention for high-risk pregnant women (1987-2017: from 142 users of 777 total attended births [18.3%] to 571 of 3693 [15.5%]; range 142-832 users). From 2008, utilisation stabilised at on average 662 women annually. Between 2014 and 2017, total attended births doubled following government promotion of facility births; MWH utilisation stayed approximately the same. Perceived high quality of care at the health facility was expressed by users to be an important reason for MWH utilisation (114 of 128 MWH users who had previous experience with maternity services at Attat Hospital rated overall services as good). A strong community public health programme and continuous provision of comprehensive emergency obstetric and neonatal care (EmONC) seemed to have contributed to realising community support for the MWH. The qualitative data also revealed that awareness of pregnancy-related complications and supportive husbands (203 of 244 supported the MWH stay financially) were key facilitators. Barriers to utilisation existed (no cooking utensils at the MWH [198/244]; attendant being away from work [190/244]), but users considered these necessary to overcome for the perceived benefit: a healthy mother and baby. Facilitators for MWH utilisation according to users and staff were perceived high-quality EmONC, integrated health services, awareness of pregnancy-related complications and the husband's support in overcoming barriers. If providing high-quality EmONC and integrating health services are prioritised, MWHs have the potential to become an accepted intervention in (rural) communities. Only then can MWHs improve access to EmONC.

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.

LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the LRBA gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, autoimmune manifestations, susceptibility to inflammatory bowel disease, and recurrent infection. However, further reports expanded this phenotype (including patients without hypogammaglobulinemia) and described LRBA deficiency as a clinically variable syndrome with a wide spectrum of clinical manifestations. We present the case of a female patient who presented with type 1 diabetes, psoriasis, oral thrush, and enlarged liver and spleen at the age of 8 months. She later experienced recurrent bacterial and viral infections, including pneumococcal meningitis and Epstein Barr viremia. She underwent two consecutive stem cell transplants at the age of 8 and 9 years, and ultimately died. Samples from the patient and her parents were subjected to whole exome sequencing, which revealed a homozygous 1-bp insertion in exon 23 of the patient's LRBA gene, resulting in frameshift and premature stop codon. The patient's healthy mother was heterozygous for the mutation and her father tested wild-type. This finding suggested that either one copy of the paternal chromosome 4 bore a deletion including the LRBA locus, or the patient inherited two copies of the mutant maternal LRBA allele. The patient's sequencing data showed a 1-Mb loss of heterozygosity region in chromosome 4, including the LRBA gene. Comparative genomic hybridization array of the patient's and father's genomic DNA yielded normal findings, ruling out genomic copy number abnormalities. Here, we present the first case of LRBA deficiency due to a uniparental disomy (UPD). In contrast to classical Mendelian inheritance, UPD involves inheritance of 2 copies of a chromosomal region from only 1 parent. Specifically, our patient carried a small segmental isodisomy of maternal origin affecting 1 Mb of chromosome 4.

Role of maternity waiting homes in the reduction of maternal death and stillbirth in developing countries and its contribution for maternal death reduction in Ethiopia: a systematic review and meta-analysis

BackgroundEvery family expect to have a healthy mother and new born baby after pregnancy. Especially for parents, pregnancy is a time of great anticipation. Access to maternal and child health care insures safer pregnancy and its outcome. MWHs is one the strategy. The objective was to synthesize the best available evidence on effectiveness of maternity waiting homes on the reduction of maternal mortality and stillbirth in developing countries.MethodsBefore conducting this review non-occurrences of the same review is verified. To avoid introduction of bias because of errors, two independent reviewers appraised each article. Maternal death and stillbirth were the primary outcomes. Review Manager 5 were used to produce a random-effect meta-analysis. Grade Pro software were used to produce risk of bias summary and summary of findings.ResultIn developing countries, maternity waiting homes users were 80% less likely to die than non-users (OR = 0. 20, 95% CI [0.08, 0.49]) and there was 73% less occurrence of stillbirth among users (OR = 0.27, 95% CI [0.09, 0.82]). In Ethiopia, there was a 91% reduction of maternal death among maternity waiting homes users unlike non-users (OR = 0.09, 95% CI [0.04, 0.19]) and it contributes to the reduction of 83% stillbirth unlike non-users (OR = 0.17, 95% CI [0.05, 0.58]).ConclusionMaternity waiting home contributes more than 80% to the reduction of maternal death among users in developing countries and Ethiopia. Its contribution for reduction of stillbirth is good. More than 70% of stillbirth is reduced among the users of maternity waiting homes. In Ethiopia maternity waiting homes contributes to the reduction of more than two third of stillbirths.

Risks Assessment Before Pregnancy: A Healthy Mother and Baby After Delivery

Risks Assessment Before Pregnancy: A Healthy Mother and Baby After Delivery

A study on evaluation of utilization of antenatal care services in a rural area of North Kerala, India

Background: Antenatal care is the care of the woman during her pregnancy. The primary aim of antenatal care is to achieve at the end of a pregnancy a healthy mother and a healthy baby National Health Mission mainly aims at reduction in maternal, neonatal, infant mortality and increasing institutional deliveries. This study was conducted to evaluate the antenatal care services utilization in a rural area of North Kerala among the women who delivered in the past six months. The objective of the study was to evaluate the antenatal care services utilization among the women who delivered in the past six months in a rural area of North Kerala.Methods: A cross sectional study was conducted in the rural field practice area of Kannur Medical College, Kannur among women who delivered in the past 6 months by using convenient sampling method. A total of 150 mothers were interviewed using pre-validated, semi structured questionnaire. Descriptive statistics were used to analyze the data.Results: The mean age of the participants was 27.2±3.4 years. About 98% (147) mothers had at least four ANC visits, all mothers had two doses or one booster dose of TT injections and 90% (135) consumed minimum hundred IFA tablets during pregnancy. Around 96% (144) of the mothers have received the full antenatal care during pregnancy.Conclusions: Our study showed that, the full antenatal care services utilization by the mothers is better compared to National and State averages. But there is slightly increased level of delivery by caesarean which is a matter of concern.

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

BackgroundComplex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial inheritance of complex chromosomal structural alteration resulting from germline chromoanagenesis-type mechanisms are limited.Case presentationWe report a two-year eleven-month old male presenting with epilepsy, ataxia and dysmorphic features of unknown etiology. Chromosomal microarray identified a complex unbalanced rearrangement involving chromosome 21. G-banding and FISH for targeted regions of chromosome 21 revealed that the copy number imbalances were limited to gains dispersed throughout the long arm of chromosome 21, characteristic of a chromosome derived from chromoanagenesis. Family studies showed that the unbalanced chromosome had been stably inherited, as it was present in both his healthy mother and maternal grandfather. Further molecular testing for non-syndromic intellectual disability genes found a likely pathogenic mutation in SYNGAP1 (NM_006772.2:c.3722_3723del).ConclusionsThis study indicates that complex rearrangements involving an unbalanced chromosome derived from chromoanasynthesis can be familial and should be not be presumed pathogenic.

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous mutations in the KIAA0586 gene on chromosome 14q23 are known to be associated with JBTS-23. The frameshift variant c.428delG is the most frequent KIAA0586 variant reported in JBTS-23; yet, homozygosity of this variant was observed in two patients with JBTS-23. However, homozygosity of the c.428delG variant was recently reported as well in one healthy individual. To clarify whether the frameshift variant c.428delG in KIAA0586 is pathogenic in the homozygous state. Whole-exome sequencing as well as RNA analysis were performed. We identified biallelic mutations, including the variant c.428delG and a splice site variant c.1413-1G>C, in KIAA0586 in two siblings with clinical and MRI features of JBTS. The c.1413-1G>C variant was inherited from the healthy father. The c.428delG variant was found in the healthy mother in a homozygous state in blood lymphocytes, hair root cells and buccal epithelial cells. RNA analysis revealed that the transcript harbouring the c.428delG variant was expressed in blood cells from the healthy mother, indicating that transcripts harbouring this variant elude the mechanism of nonsense-mediated mRNA decay. Considering this and the high allele frequency of 0.003117 in the gnomAD database, we conclude that c.428delG represents a JBTS disease-causing variant only if present in compound heterozygous state with a more severe KIAA0586 variant, but not in a homozygous situation.

Maternal factors and feeding pattern in neonates admitted with dehydration

Background: Some healthy breast-fed infants do not establish an adequate milk intake, continue to lose weight and may develop dehydration. The aim of the study is to find out the maternal factors and feeding pattern of neonates admitted with dehydration.Methods: Hospital based prospective study on neonates (>34 week gestation and >2kg birth weight) with signs/symptoms of dehydration and >10% weight loss after birth admitted in the NICU, MBGH, RNT Medical college, Udaipur, Rajasthan, India for period of 12 months from July 2015-June 2016. Sick neonates with sepsis, birth asphyxia and congenital anomalies were excluded. One apparently healthy neonate and mother selected randomly for each study group dehydrated neonate. Ethical clearance and informed consent for the study was taken.Results: 384 neonates with dehydration were enrolled. Most neonates (96.6%) with dehydration were admitted between Day 3-14 of birth. Dehydration was found in 2.5% caesarean section and 0.8% normal vaginal delivered neonates (p value<0.00001). Dehydrated neonates groups (n=384) was compared with non dehydrated healthy control group (n=384) neonates. Primiparous mothers (p value <0.00001), Pregnancy related complications (p value=0.02), delayed initiation of breast feeding (>1 hour) after birth (p value<0.00001), poor attachment during breast feeding (p value <0.00001), absent let down reflex (p value<0.00001), decreased (<8/day) breast feeding frequency (p value<0.00001), presence of nipple problems (p value<0.001) were more significantly present in dehydrated group as compared to control group. Socioeconomic status, education status and position of mother during breast feeding among mothers in dehydrated group were not significant. 379 neonates were discharged successfully, and 5 neonates expired.Conclusions: Dehydration is a serious problem in breastfed neonates, and early initiation of breast feeding, with proper counselling of breast feeding practices with breast examination in antenatal as well as postnatal period can help in its prevention.

Effect of Cutting Type, Indol-3-Butyric Acid and the Growing Season on Rooting of Stem Cuttings of Rosa hybrida Cv Eiffel Tower

A field experiment was conducted for two successive years to investigate the conventional propagation of Rosa hybrida cv.Eiffel Tower using stem cuttings as affected by the growing season of the year, cutting type and the application of indol-3-butyric acid(IBA) at different concentrations. Uniform cutting types ~ 15-20 cm long (apical, median and basal) were collected from the current year growth of healthy mother plants. Then the cutting bases (2-3 cm) were soaked for 20 minutes in different concentrations of IBA (0, 500, 1000 and 1500 ppm) and the lower end of the cuttings were stuck into 14-cm plastic pots filled with a peat: perlite mixture (1:1v/v). The obtained results statistically analyzed by ANOVA showed that rooting percentage of stem cuttings, number of roots and root length varied according to cutting type, concentration of IBA and growing season. The median cutting type was significantly superior to the other types in both autumn and spring seasons. IBA application significantly improved rooting percentage, root number and root length of the treated cuttings comparing to the untreated ones (control). A significant interaction between cutting type and IBA concentrations was observed on most of the characteristics measured during the autumn season only.