Antenatal History Research Articles

To Study the Correlation Between Perinatal Asphyxia and Electrolyte Imbalance

Aim: To investigate electrolyte (sodium, potassium, and calcium) imbalances in babies who have suffered various degrees of hypoxia in the early neonatal period. To determine the relationship between sodium, potassium, and calcium levels and the various degrees of perinatal hypoxia. Methodology: This prospective observational study was placed in a hospital. The sample was collected using the consecutive sampling method. Apgar scores were recorded at 1 and 5 minutes after birth, and patients were chosen using inclusion and exclusion criteria. After obtaining informed consent from the parents, a thorough antenatal, natal, and postnatal history and clinical examination were performed. Results were recorded on a predesigned form. Complete blood count (CBC), haemoglobin, electrolytes (sodium, potassium, calcium), urea, creatinine, septic screen total leukocyte count (TLC), absolute neutrophil count (ANC), band cell ratio, micro erythrocyte sedimentation rate (microESR), and C-Reactive Protein (CRP) were sent from venous sampling within an hour of birth as relevant investigations. Result: There was a significant difference in the means of sodium, potassium, and ionised calcium when they were analysed using an ANOVA, with a p-value of 0.001. (Table4). Bivariate analysis was used to identify the relationship between the Apgar score and blood electrolyte level, and the Pearson test was used to calculate the correlation coefficient. A box plot was used to show the median and quartiles of the serum electrolyte in relation to the Apgar at 5 minutes. With a Pearson correlation coefficient of 0.448, serum sodium increased along with the Apgar score at 5 minutes, demonstrating a substantial relationship between the two variables (Fig.1). The link between serum potassium and Apgar at 5 minutes was significantly negative with a Pearson correlation coefficient of 0.422. Serum urea and creatinine increased proportionately with an increase in the severity of HIE grade. Conclusion: One of the main issues with perinatal hypoxia is electrolyte imbalance, which is assumed to be increasing death and morbidity. The most common anomaly associated with birth asphyxia is hyponatremia, which requires precise and meticulous therapy. Hyperkalemia is equally important and needs to be handled carefully. Similarly, serum urea and creatinine levels were significantly different between HIE I and HIE III. However there was a modest linear negative correlation with hypocalcemia, which is not statistically significant. Keywords: Perinatal hypoxia, electrolyte imbalance, hyponatremia, Hyperkalemia hypocalcemia

A Prospective Study on Prevalence of Conginetal Heart Diseases in Children with Down Syndrome

Background and Aim: Down syndrome (DS) is the most prevalent genetic disorder in humans around the globe. Variations in pattern and risk factors for congenital heart diseases significantly contributes to the increasing morbidity and mortality among Down syndrome children. The present study aimed to determine the prevalence of congenital heart diseases among Down syndrome children. Methodology: This prospective study was carried out on 46 Down syndrome children in the Department of Pediatric, Shalamar Hospital Lahore from November 2020 to June 2022. The study protocol was approved by the research and ethical committee. Demographic details, outcomes, and diagnosis on echocardiography were extracted from the proforma and medical record. Data such as date of birth, maternal age, parity, and parental consanguinity were collected. Antenatal history such as obesity, maternal passive smoking, and diabetes confirmed the antenatal infections. Data regarding children including gender, birth weight, maturity, and plurality were considered. For data analysis, SPSS version 25 was used. Results: Of the total 46 Down syndrome children, there were 29 (63%) male and 17 (37%) females. The overall mean age was 3.61±2.3 years with an age range from 0 to 15 years. Majority of the Down syndrome children 32 (69.6%) were under 5 years followed by 9 (19.6%) in 5-10 years and 5 (10.8%) in between 10 and 15 years. The prevalence of congenital heart disease was 26 (56.5%) in Down syndrome children. Of the total 26 Down syndrome children with congenital heart disease, the incidence of cyanotic and acyanotic heart disease were 5 (10.8%) and 21 (45.7%) respectively. Out of 56.5% cases of congenital heart disease, ventricular septal defect (VSD) was the most prevalent congenital heart disease found in 12 (46.2%) cases followed by Atrio-venticular canal defect 7 (26.9%), Tetralogy of fallot 4 (15.4%), and atrial septal defect 3 (11.5%). Conclusion: Our study concluded that the prevalence of congenital heart disease was 56.5% among Down syndrome children. Majority of congenital heart diseases were acyanotic. Male are more susceptible to congenital heart diseases. Ventricular septal defect (VSD) was the most prevalent congenital heart disease. Early diagnosis, referral, and prompt intervention can prevent congenital heart diseases among Down syndrome children. Keywords: Congenital heart diseases, Prevalence, down syndrome children

Neonatal and Maternal Risk Factors for Indirect Hyperbilirubinemia: A Cross-Sectional Study from Bahrain.

Results Out of 555 records, 404 neonates were included. Among those, 209 (51%) were males and 275 (68.1%) were Bahraini. The median indirect bilirubin level at presentation was 218 (interquartile range, 174-270) μmol/L. ABO incompatibility was the commonest risk factor for neonatal indirect hyperbilirubinemia (n = 152, 37.6%) followed by glucose-6-phosphate dehydrogenase (G6PD) deficiency (n = 130/400, 32.5%). Age (>25 years) was the commonest maternal risk factor (n = 331, 81.9%) followed by cesarean delivery (n = 137, 33.9%). Neonates with ABO incompatibility had a significantly higher mean indirect bilirubin level compared to those with other risk factors (234.9 ± 68.5 versus 225 ± 82.2 mmol/L, respectively) (P = 0.04). Phototherapy use significantly increased along with the rise of bilirubin level (P < 0.0001). Intravenous immunoglobulins (IVIG) and exchange transfusion were used in 44 (10.9%) and 14 (3.5%) patients, respectively. Neonates who received IVIG had significantly higher bilirubin levels than those who did not (P = 0.005). Male newborns (P = 0.008), Bahrainis (P = 0.001), those with reticulocytosis (P = 0.001), and those who received IVIG (P = 0.001) were more prone to have associated risk factors. Conclusion ABO incompatibility, G6PD deficiency, and older maternal age were the commonest neonatal and maternal risk factors for developing neonatal indirect hyperbilirubinemia. Bahraini, male newborns, reticulocytosis, and IVIG use were associated with these factors. Early detection of such factors through screening can aid in immediate management to prevent serious complications of this common condition.

Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants

Bartter syndrome (BS) refers to a group of hereditary kidney disorders. One antenatal form is Bartter syndrome type 1 (BS1), caused by pathogenic variants in the SLC12A1 gene. We report a case of BS1 presenting with severe polyhydramnios. The fetus was found to carry three pathogenic variants of SLC12A1, leading to the antenatal diagnosis of BS1 and its prompt management. At age 18 days, clinical conditions were complicated by the onset of sepsis requiring supportive measures as well as steroid and antibiotic therapy. Any newborn with an antenatal history of polyhydramnios or postnatal polyuria should be suspected of having BS, since delayed diagnosis may lead to rapid renal failure.

A prospective comparative study of metabolic and haematological profile of infants born to mothers with pregestational and gestational diabetes mellitus

Background: Diabetes mellitus during pregnancy has long been associated with maternal and neonatal morbidity and mortality. Gestational and pregestational diabetes make up the most common maternal metabolic disorder of pregnancy. Suboptimal control of blood glucose has the potential for serious neonatal adverse effects. Neonates of pregestational diabetic mothers are at risk for congenital malformations, perinatal mortality, preeclampsia, preterm birth, increased birthweight, neonatal hypoglycaemia.Methods: 100 neonates born to diabetic mothers were enrolled in the study during 1January 2019 to 30June 2020 at Mediciti institute of medical sciences, Telangana. Gestational age, birth weight, relevant antenatal history of mothers with diabetes mellitus and examination findings were collected and recorded. Blood samples were collected to perform relevant biochemical tests and managed as per unit protocol.Results: Of the 100 neonates, 93% were born to mothers with GDM, while the remaining 7% were born to mothers with PGDM. 39% (39/100) of mothers had poor glycemic control. Mean birth of neonates born to PGDM mothers was lower when compared to GDM and was statistically significant (p=0.02). Hyperbilirubinemia was the most common abnormality seen in 53% of neonates. Incidence of hypoglycemia, hypocalcemia, hypomagnesemia, polycythemia, hyperbilirubinemia, were higher in infants born to mothers with PGDM and was statistically significant. Conclusions: Among the pregnancies complicated by diabetes, PGDM continues to have a major contribution. Metabolic and haematological complications are more in neonates born to mothers with PGDM. Hypocalcemia and hyperbilirubinemia was the most common complications in IDM.

Athena: Speciality Certificate Examination case for Paediatrics and Genetics.

A four-month-old male baby presents in accident & emergency department with fever and respiratory distress. Parents report recurrent hospitalizations since birth due to chest infections. Antenatal and family history is unremarkable.

Teenage Pregnancy and its Outcomes in a Tertiary Care Hospital in Assam

Background: Teenage pregnancy is one of the determinants of high maternal morbidity and mortality. Assam is known for its highest contribution of maternal death in India. In Assam, around 31% of teenage girls get married before the age of 18, and around 12% teenage girls become mothers before they turn out to be 18 years. Objectives: The objective of this study is to know the maternal and fetal outcomes of teenage pregnancy and its determinants in a tertiary care setting in Assam. Materials and Methods: A cross-sectional study was conducted among 118 teenage mothers admitted to Jorhat Medical College and Hospital from June to August 2019. Required data on sociodemographic characteristics of the mother, antenatal, intranatal, and postnatal histories, and maternal and fetal outcomes of the pregnancy, were collected in predesigned and pretested schedule. Data analysis was done using Microsoft Excel software. Ethical approval was obtained from the Institutional Ethics Committee. Results: Among the 118 teenage mothers which constitute 14.6% of total deliveries conducted during the study period, 61% were anemic during pregnancy and 75.42% of teenagers had term delivery while 19.49% had either preterm or postterm deliveries. Cesarean section was done for 50.85% of pregnancies and 45.77% of teenage mothers had complications such as eclampsia, prolonged labor, cephalopelvic disproportion, and premature rupture of membrane during labor. About 42.73% of the newborns were found to be low birth weight babies. A statistically significant association was found between determinants such as lower socioeconomic class, younger age at marriage, less education of mothers, lack of knowledge about contraceptives, and teenage pregnancy. Conclusion: Our study findings indicated a high percentage of teenage pregnancy and increased complications among teenage mothers and newborns.

First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report

BackgroundMyogenic Arthrogryposis Multiplex Congenita type 3 (AMC-3), is a rare congenital condition characterized by severe hypotonia, club feet, and multiple joint contractures often affecting both arms and legs which start prior to birth.Case presentationWe report a full-term neonate born to first-degree cousins from fourth-generation consanguineous families, who had with antenatal history of reduced fetal movements. At birth, he was noticed to have bilateral club feet, arthrogryposis, severe hypotonia, and absent deep tendon reflexes. The patient developed difficulty in breathing probably attributed to his generalized severe hypotonia, necessitating mechanical ventilation.His creatinine-phospho-kinase, electromyogram, and brain magnetic resonance imaging were normal. Whole-exome sequencing (WES) was requested for the genetic diagnosis of the case.WES identified a novel homozygous variant c.23415-3799C > G p. in the synaptic nuclear envelope protein1 [SYNE1] gene. Seven out of 20 bioinformatic in silico programs predicted a pathogenic effect for this variant. Segregation analysis of the variant in the parents and siblings revealed that both parents and one sibling were heterozygous for the same mutation which proved the variant significance and its autosomal recessive pattern of inheritance.ConclusionsAMC3 should be suspected in patients with decreased fetal movements, severe hypotonia, absent deep tendon reflexes, and arthrogryposis. SYNE1 gene mutations can be the underlying genetic defect and molecular genetic testing can prove the diagnosis.

Clinical profile and etiology of neonatal seizures in NICU Rims, Raichur

Introduction: Seizures are more common in the neonatal period than in any other stage and affects approximately 1% of all neonates. Amongst neurological disorders, seizures are the most common in neonates. The study was conducted to determine the aetiology and clinical profile of neonatal seizures. Materials and Methodology: This study was designed to be a hospital based prospective observational study was undertaken in the in the hospital attached neonatal intensive care unit (NICU), RIMS, Raichur. A total of 500 neonates presenting with seizures or who developed seizures in hospital from 01 February 2022 to 31 May 2022 were enrolled in the study. All neonates (age 0 – 28 days) who presented to the hospital with history of seizures or who develop seizures during the course of hospital stay were taken into study. Detailed antenatal history examination and clinical details of each seizure episode reported by the mother and subsequently observed by the resident doctors on duty were recorded. Results: Among these 405 patients (81%) were from rural areas and 95 patients (19%) were from urban areas.

Factors Associated With Stunting of Children at 24 Months in the AMANHI Pakistan Study

ObjectivesMalnutrition is a significant health problem among children in low- and middle-income countries. In 2017, 35% of children in South Asia were reported to be stunted. In Pakistan, 4 in every 10 children under 5 years are reported to be stunted. The aim of this study was to identify the factors associated with stunting amongst children 24 months of age, living in Pakistan, an LMIC.MethodsThis is a secondary analysis of the AMANHI prospective cohort study. Newborns of mothers who were enrolled in the AMANHI-cohort were followed up to 24 months of life. Information on antenatal history, gestational age, sociodemographic and education, household hunger scale and food consumption status at 12 and 24 months was assessed. Anthropometry was done to evaluate length/height and weight using standardized methods. Logistic regression analysis was run using STATA (v.17.0) and odds ratios with 95% confidence interval were calculated.ResultsIn this prospective cohort study, 923 children were included with a gender distribution of 48.8% males and 51.2% females. The results of univariate analysis showed that the factors associated with stunting amongst children 24 months of age were: low birth weight (OR 2.23; 95% CI 1.61 to 3.10; P < 0.0001), small for gestational age (OR 2.07; 95% CI 1.54 to 2.78; p = 0), wealth falling in poorest quintile (OR 2.02; 95% CI 1.32 to 3.07; p = 0.001) or poor quintile (OR 1.62; 95% CI 1.07 to 2.45; p = 0.023), children who are Muslims (OR 1.87; 95% CI 1.15 to 3.07; p = 0.012), no maternal education (OR 3.22; 95% CI 1.53 to 6.77; p = 0.002), underweight mothers (OR 1.55; 95% CI 1.1 to 2.18; p = 0.013), and daily wage earning fathers (OR 1.4; 95% CI 1.03 to 1.9; p = 0.033). The consumption of dairy (OR 2.1; 95% CI 1.51 to 2.92; P < 0.0001) and sugar sweetened items (OR 1.79; 95% CI 1.32 to 2.44; P < 0.0001) were also found to be positively associated with stunting. However, there was no difference in odds of being stunted amongst children with poor/borderline or acceptable food consumption status at 12 and 24 months.ConclusionsThe results of this study report the multitude of factors associated with stunting amongst children 24 months of age, residing in Pakistan. It also helps identify the different levels at which interventions can be targeted to reduce prevalence of stunting in this country.Funding SourcesNone.

Frequency and Severity of Auditory Impairment in Children with Cerebral Palsy in a Selected Tertiary Health Care Centre

Cerebral palsy is the most common chronic motor disorder in children and frequently associated with sensorineural pathology. Deafness is very important public health concern. Because it determines long-term life span disability in individuals, decrease their quality of life. To observe the rate of occurrence of hearing impairment in children with cerebral palsy (CP) and to assess the severity of hearing impairment children with CP and correlate the auditory impairment with different types of CP were aim of the study. Total 50 children with Cerebral Palsy were taken. A structured questionnaire was filled up including history of patient and important variables related to hearing status like family history of deafness, consanguinity, antenatal history, preterm LBW, perinatal asphyxia, kernicterus, neonatal septicemia, neonatal seizure and meningitis were included in study. Physical examination and neurological examination like hearing, vision, motor, cognitive, speech delay were assessed. In this study, among the 50 children with CP, Tympanometry showed that negative middle ear pressure was 32% in spastic quadriplegia (SQ), 24% in spastic hemiplegia (SH), 16% in spastic diplegia (SD) and 24% in mixed type. Eustachian tube dysfunction was 62.5% in spastic hemiplegia. Secretory otitis media was 36.4% in spastic quadriplegia. Auditory brain stem response revealed severe sensorineural hearing loss was 8% in spastic quadriplegic type. Moderate sensorineural hearing loss was 2% in spastic hemiplegia group. Hearing loss was frequent in children with Cerebral Palsy. Spastic Quadriplegic cerebral palsy patients had the maximum incidence of hearing impairment.

Neuregulin 4 (NRG4) – the hormone with clinical significance in gestational diabetes mellitus

This study aimed at determining the association between serum neuregulin 4 (NRG4) and insulin in gestational diabetes mellitus (GDM) and their correlation with other metabolic parameters. A cross-sectional study was conducted from June 2018 to February 2019 at Ziauddin University, Karachi. Pregnant women (n = 80), at 24–28 weeks of gestation, were recruited. Demographic data, anthropometric measurements and antenatal history were recorded. The fasting blood was drawn for testing fasting blood sugar (FBS), NRG4, insulin and lipid profile. The subjects were evaluated for glucose challenge test after 50 g glucose ingestion. NRG4 levels (1.00 ± 0.15) were found significantly high (p < .04) in healthy group compared to GDM (0.95 ± 0.11). In GDM females, high levels for FBS (p < .02) and cholesterol (p < .03) were observed. Homeostatic model assessment of insulin resistance (HOMA-IR) had direct weak association with NRG4, inverse relationship with cholesterol and LDL but significant association (p < .05) with insulin. Significantly high NRG4 in healthy females suggests its potential role in regulating insulin sensitivity. Impact Statement What is already known on this subject? Neuregulin 4 (NGR4) is a batokine which plays a potential role in regulating insulin sensitivity, maintaining energy and metabolic homeostasis. Due to its role in lipid and glucose homeostasis, some studies report its role in gestational diabetes mellitus (GDM) but the results were controversial. What do the results of this study add? The study showed that NGR4 levels were significantly low in GDM subjects. Other metabolic factors especially insulin and homeostatic model assessment of insulin resistance (HOMA-IR) were found associated significantly (p < .05) with NGR4. What are the implications of these findings for clinical practice and/or further research? NGR4 can be a potential biomarker for gestational diabetes. Nevertheless, in order to confirm these findings, further studies, with bigger sample size are required to further ascertain the prospects of NRG4 as a potential biomarker for gestational diabetes.

Assessing floppy infants: a new module

Our aim was to develop a new module for assessing the floppy infant, to describe the application of the module in a cohort of low-risk newborns and piloting the module in a cohort of floppy infants. The module was applied to a cohort of 143 low-risk newborns and piloted in in a cohort of 24 floppy infants. The new add-on module includes a neurological section and provides a section for recording information obtained by physical examination and antenatal history. For each item, column 1 reports abnormal findings, column 3 normal findings, and column 2 intermediate signs to be followed. Consistent with previous studies, in low-risk infants, none had definitely abnormal or mildly abnormal signs, with the exception of tendon reflexes that were not easily elicitable in 17.14% of term-born infants.Conclusion: Our study suggest that the module can be easily used in a clinical setting as an add-on to the regular neonatal neurological examination in newborns identified as hypotonic on routine examination. Larger cohorts are needed to establish the accuracy of the prognostic value of the module in the differential diagnosis of floppy infant.What is Known:• Hypotonia is one of the key signs in newborns with neuromuscular disorders and can be associated with a wide range of other conditions (central nervous system involvement, genetic and metabolic diseases).• Weakness or/and contractures can identify infants with a neuromuscular disorder and help in the differential diagnosis of floppy infants.What is New:• To date, this is the first attempt to develop and apply a specific neurological module for the assessment of the floppy infant.• The module can be used in a routine clinical setting as an add-on to the regular neurological examination and has potential to differentiate the floppy infants from the low-risk infants.

Fetal inflammatory response and endothelial dysfunction in newborns from mothers with exacerbation of cytomegalovirus infection during the second trimester of pregnancy

Aim. To study the fetal inflammatory response and endothelial dysfunction in newborns from mothers with an exacerbation of cytomegalovirus infection (CMVI) in the second trimester of pregnancy. Materials and methods. We examined 90 newborns with an antenatal history, uncomplicated and aggravated by the acute phase of chronic CMVI, diagnosed in their mothers at 21-24 weeks of gestation. The concentration of TNFα, IL-6, and endothelin-1 was determined in cord blood serum. The control group consisted of 30 newborns whose intrauterine development proceeded against the background of physiological pregnancy seronegative for cytomegalovirus (CMV). The main group included 60 newborns, which were divided into 2 subgroups. Subgroup 1 included 30 newborns from mothers who had an acute phase of chronic CMVI, leading to the development of chronic compensated placental insufficiency, subgroup 2 consisted of 30 newborns from mothers with exacerbation of CMVI, initiating the formation of chronic subcompensated placental insufficiency. Results. In the control group, DNA of CMV, IgM antibodies to CMV and IgG antibodies to CMV were not detected. In the main group, in newborns of subgroup 1, compared with the control, DNA of CMV, both in the cord blood and in the nasopharyngeal aspirate, was isolated in 3.3 % of cases, and was not detected in scrapings of the buccal epithelium. The titers of IgG antibodies to CMV were determined in the ratio of 1: 100 in 36.7 %, 1: 200 in 43.3 %, 1: 400 in 13.3% and 1: 800 in 6.7 % of cases. At the same time, in mother-newborn pairs, higher titers of IgG antibodies to CMV in pregnant women, compared with those in their offspring, were detected in 18 cases, and equal titers of IgG antibodies to CMV were detected in 12 dyads. In the control group, the concentration of TNFα was equal to (Me) 16.2 (12.9-32.7) pg/ml, IL-6 – 1.93 (1.65-2.21) pg/mL, endothelin-1 – 0.52 (0.45–1.21) fmol/mL. In subgroup 1 of the main group, in comparison with the control one, there was an increase in the concentration of TNFα by 2.6 times (p=0.000001), IL-6 – by 2.1 times (p = 0.000001) and endothelin-1 – by 2.1 time (p = 0.000002). In newborns of subgroup 2, compared with subgroup 1, CMV antigens were identified in the blood in 6.7 % (p &gt; 0.05), and in nasopharyngeal aspirate – in 10% (p&gt;0.05) in the absence of identification of the CMV genome in the buccal epithelium. In 6.7%, IgM antibodies to CMV were detected. IgG antibodies to CMV 1:800 were detected more often (in 33.3%, p&lt;0.05), as well as equal titers of IgG antibodies to CMV in 20 mother-offspring pairs (p&lt;0.05). There was an increase in the concentration of TNFα by 1.47 times (p=0.0076), IL-6 - by 1.33 (p = 0.0016) and endothelin-1 - by 1.5 times (p = 0.0161), respectively. Conclusion. In the offspring of mothers who had an exacerbation of CMVI in the second trimester of pregnancy and with the presence of chronic subcompensated placental insufficiency, compared with newborns from women with the acute phase of chronic CMVI at similar gestation periods and formed chronic compensated placental insufficiency, higher levels of pro-inflammatory cytokines and endothelin-1 are recorded, indicating activation of the fetal immune system as a result of viral aggression and penetration of IgG to CMV of maternal origin.

A Comparative Study of the Incidence of Hypoglycaemia and Hypocalcaemia in Neonatal Seizures Occurring within 72 Hours of Birth Admitted in NICU at a Tertiary Care Centre

Background: Recognition of hypoglycaemia and hypocalcaemia in Neonatal seizures is important for to prompt diagnosis and therapeutic implications. Study aimed to analyse the incidence of hypoglycaemia and hypocalcaemia in neonatal seizures occurring within 72 hours of birth in 32-37 weeks preterm and term (37-42 weeks) babies. Subjects and Method: A prospective hospital based observational study enrolled total of 105 neonates presenting with seizures activity within 72 hours of birth admitted to NICU of SV Medical College, Tirupati from September 2013 to October 2014. Samples selected by Simple random sampling method. Detailed antenatal, natal and postnatal history including CNS examination were taken and investigations estimated includes complete blood counts and picture, random blood sugar, and serum ionic calcium. The analysis data was chi square test with SPSS for Windows (Ver 20), SPSS Inc. New York. Results: The results was In neonatal seizures occurring within 72 hours of birth, hypoglycaemia (62.9%) was common, more so in preterm babies both hypoglycaemia 9 (37.5%) and combi­nation of hypo­glycaemia and hypocalcaemia 9 (37.5%). The association between type of delivery and hypoglycaemia/ hypocalcaemia shown significant different (p=0.002). The association between Birth Weight and hypoglycaemia/ hypocalcaemia shown a very high significant different (p&lt; 0.001). Conclusion: In neonatal seizures occurring within 72 hours of birth, hypoglycaemia (62.9%) was common, more so in preterm babies both hypoglycaemia 09 (37.5%) and combination of hypo­glycaemia and hypocalcaemia 09 (37.5%).

Abstract 107: Klinefelter's syndrome presenting with ambiguous genitalia

A first-born child born out of non-consanguinity, with term delivery and low birth weight was brought at 1 year 4 months of age with left undescended testis and ambiguity. Antenatal, perinatal and developmental history were uneventful. There was no h/o failure to thrive or generalized hyperpigmentation. On examination there was bifid scrotum with rugosities and palpable testis on the right with left testis in the inguinal canal. The shaft measured 2 cm with penoscrotal hypospadias. On evaluation the stimulated T: DHT was 127.3 and T: A was 13.42, suggestive of 5-alpha reductase deficiency. However, the karyotyping revealed 47XXY karyotype. Clinical exome sequencing did not reveal any mutations. Ambiguity is a rare presentation in patients with Klinefelter's syndrome.

Abstract 73: A case report of mitochondrial diabetes. arthrogryposis multiplex congenita, diabetes and deafness

Background: Mitochondrial diseases are caused by genetic defects that occur in either the mitochondrial DNA or the nuclear DNA. The heterogeneity, variable expressivity, age independence, and multiorgan system involvement all often lead to delayed diagnoses. Multiple endocrine complications can arise with mitochondrial disease. Foremost is diabetes, which has a prevalence of 11% to 15% in mitochondrial disorders. Age of diagnosis on average is 32 to 38 years but is variable. Arthrogryposis multiplex congenita refers to a group of conditions including multiple congenital contractures in varied areas of the body. We report a case of 16 years female with Arthrogryposis multiplex congenita who presented with diabetes.Case Report: A 16 years female presented with weight loss, polyuria and random blood sugar of 253 mg/dl. Born to non-consanguineous parents. Antenatal history of mother was uneventful. History of bony contractures was present since birth. There was delay of gross motor development. Intelligence is normal. Height is 132 cm (<3rd centile). Attained menarche at 13 years. Cycles are regular. History of bilateral hearing loss was present since childhood. She was started on basal bolus insulin therapy. The clinical features are pointing towards a form of mitochondrial diabetes with GFM2 mutation, Leigh syndrome.

Primary lymphedema of the left lower limb in a new-born boy: a case report

A 7-day-old boy was admitted with a history of swelling involving his left lower limb since birth. He was born normally to a Gravida 1, Para-0, to a 22-years-old mother. Antenatal history was nothing significant. His clinical examination revealed left lower limb swelling and was suggestive of primary lymphedema. It involved from the ankle area up to the groin of the left side of the limb. His right lower limb and both upper limbs were normal. His other systemic examination was also normal. He was treated with aseptic needle aspiration of the lymphatic fluid, and a compression dressing was applied. He suddenly died of an unknown reason while sleeping at around 4.00 AM on the third post aspiration day.

Nutrition and health-seeking practices during pregnancy and lactation and potential strategies to increase micronutrient intakes among women in northern Lao PDR.

Access to and utilisation of antenatal care (ANC) is important for optimising health and nutrition during pregnancy. This study aimed to assess adherence to and factors associated with ANC and antenatal supplement use among Laotian women, and consider culturally appropriate strategies to increase micronutrient intakes. Mother-child (aged 21 d to <18 months) dyads (n 699) enrolled in a hospital-based prospective cohort study with the community comparison group in Luang Prabang province were interviewed about their antenatal history, supplement use, household sociodemographic and dietary practices, including postpartum food avoidances. Ninety percent of women (mean age 24⋅7 ± 6⋅3 years) reported receiving ANC during their pregnancy, with the majority reporting four to seven contacts, while 84⋅6 and 17⋅3% reported supplement use during pregnancy and lactation, respectively. Adequate ANC contacts (≥8) and supplement use was more likely among women with complete primary education and from higher socioeconomic status households, and less likely among women belonging to ethnic minority populations and those who delivered their child at home. All women continued to consume salt while adhering to postpartum food avoidances; however, 58⋅5 and 38⋅7% of habitual consumers restricted fish and soy sauces, respectively. Eighty-six percent of women reported they would be willing to take supplements when adhering to postpartum dietary restrictions. Overall, women's reported ANC attendance and antenatal supplement use was suboptimal. Understanding predictors of and barriers to ANC and supplement use may help implement effective public health strategies to improve adherence. Alongside targeted supplementation, salt fortification with micronutrients may be a viable population-wide intervention that needs further evaluation.

Human tail in a newborn

Human tails are extremely infrequent and are generally diagnosed after birth, with no antenatal or family history associated with its occurrence. Different classification systems exist, however given its association with spinal dysraphism, it is important to include imaging studies during the assessment of patients with this congenital anomaly. We present the case of a human tail with no underlying spinal dysraphism that successfully underwent simple resection and reconstruction with Limberg plasty.