Study Of Malformations And Down Syndrome In India (SOMDI) : Delhi Region.

A total of 23,367 children born at Safdarjung hospital, New Delhi were examined for the incidence of congenital malformations as a part of multicentric project (SOMDI) funded by DAE. The study revealed 3.1% of still births, 1.46% of malformations. The frequency of malformations was more in babies born to rural mothers cum parents who were blood relatives. Amongst the malformations recorded central nervous system (Neural tube defect) malformations were more frequent (7.87/1000 births) followed by muscutoskeletal cum gastrointestinal type (3.08/1000 births) and multiple malformations (1.67/1000 births).

Hemostatic profile in nephrotic syndrome.

OBJECTIVE: To evaluate the coagulation profile and its relation to steroid therapy, and the frequency of thromboembolic complications and its correlation with coagulation parameters in nephrotic syndrome (NS). SETTING: Hospital based. SUBJECTS AND METHODS: Forty children with NS were subdivided into four groups, namely, fresh cases, steroid dependent, remission after therapy and steroid resistant. An equal number of age and sex matched children served as controls. In all the study and control subjects, detailed clinical examination, liver function tests, renal function tests and detailed coagulation profile were done. Evaluation of renal veins and inferior vena cava for the presence of thrombosis was also done by abdominal ultrasonography. RESULTS: Thrombocytosis was detected in 57.5% and the degree of thrombocytosis was directly related to the amount of proteinuria. The mean prothrombin and thrombin times were within normal range in the study children. The activated partial thromboplastine time (APTT) was prolonged in six cases (15%) and three out of these six children had thromboembolic complications. Antithrombin-III level was significantly lower (p < 0.001) whereas protein C and S were significantly elevated (p < 0.001) as compared to controls. The levels became normal with remission of the disease. Steroid therapy significantly increased the levels of proteins C, protein S. AT-III and fibrinogen as compared to controls. Thromboembolic complications were seen in 3 cases (7.6%) and were associated with very low levels of AT-III and protein C and all three had serum albumin below 2 g/dl. CONCLUSIONS: The importance of coagulation profile in nephrotic syndrome is highlighted and a high index of suspicion for thromboembolic complications is warranted in patients with thrombocytosis, hyper fibrinogenemia, prolonged APTT and in children with low levels of AT-III, protein C and protein S.

Prevalence of hypertension in schoolgoing children.

OBJECTIVE: To establish norms of blood pressure in children of different age groups, prevalence of hypertension and probable precipitating or aggravating factors. DESIGN: Cross sectional study. SETTING: Five thousand school children of Amritsar city. METHODS: Three readings of blood pressure were recorded. Norms for each year age group from 5-17 years of age were established. Persistently hypertensive children were investigated. Influencing factors like family history of hypertension and obesity were taken into account. RESULTS: The blood pressure increased with increase in age with a spurt in systolic blood pressure at the age of 12 years in both the sexes. There was no significant differences in the blood pressure of two sexes at various age groups except for systolic blood pressure at 5,6 and 16 years and for diastolic blood pressure at 9 and 13 years. Only 0.46% children were hypertensive. Children with obesity (n = 342) and family history of hypertension (n = 271) had hypertension in 3.5% (n = 12) and 5.9% (n = 16) cases, respectively as compared to other children in which the prevalence was only 0.23% and 0.14%, respectively. CONCLUSIONS: The norms for determining hypertension in this population were established and it's prevalence was 0.46%. Significant risk factors were obesity and family history of hypertension.

Assessment of thyroid functions and its role in body growth in thalassemia major.

The present study was done to establish the role of thyroid gland in causing growth retardation in regularly transfused thalassemic children. Growth, skeletal maturation and thyroid functions were assessed in 25 patients of thalassemia major in the age range of 5-17 years (mean age 10.3 +/ 3.6 years). Thirteen patients were migrants from Pakistan and 12 were of Indian origin. Twenty-five age and sex matched children who were not anemic served as controls. Thalassemic children received multiple blood transfusions ranging from 36-350 units with a mean of 168.4 +/ 98.9 (+/ 1 SD). The mean pretransfusion hemoglobin was 8.7 +/ 1.6 g/dl. Twenty eight per cent patients were below the 5th percentile for height and another 24% between 5th and 10th percentiles. The height age retardation was more pronounced than bone age retardation. The mean serum total T3 and T4 levels were significantly lower (p < 0.001) and the mean serum TSH levels were significantly higher (p < 0.005) in patients with thalassemia major as compared to the controls. Eight patients had high TSH levels; of these 5 had compensated primary subclinical hypothyroidism (elevated TSH with normal T3 and T4) and 3 had uncompensated primary sub-clinical hypothyroidism (elevated TSH, low T4 and normal T3). Two patients had low T4 with normal T3 and TSH levels. Thyroid dysfunction was not related to age, sex, hemoglobin levels and country of origin but transfused iron load (units/kg, units/year) was significantly higher in patients with hypothyroid function compared to those with euthyroid function (p < 0.005). Height age, weight age and bone age retardations were more pronounced in patients with hypothyroid function; however, the difference was not statistically significant. It is concluded that hypothyroidism is unlikely to be the sole cause of growth retardation; however, it may have a potentiating or permissive role. The strong association of high transfused iron load and decreased thyroid function stresses the need for intensive chelation therapy.

Evaluation of thyroid functions in critically ill infants.

The degree to which thyroid functions are affected by non-thyroid illness and an assessment of its correlation with mortality was evaluated. Thirty infants (20 M, 10 F) with a mean age of 433 +/- 3.28 months (+/- 1 SD), with severe acute systemic illness and 30 healthy controls, age and sex matched, were studied for total serum T3, T4 and TSH levels at admission and recovery or before death. Serum thyroid hormones were measured using standard techniques. There was no significant change in thyroid indices with age, sex, nutritional status, serum protein and C-reactive protein. Serum T3 levels in infants were significantly lower (0.62 +/- 0.63 ng/ml) than the controls (1.90 +/- 0.62) (p < 0.001), with normal T4 and TSH levels at admission. Both serum T3 and T4 levels increased with recovery. Out of 30 infants studied, 14 died whereas 16 were discharged. It was noticed that T3 and T4 values were significantly reduced at or near death when compared with the admission levels (p < 0.001). Prognosis could not be determined at the time of admission, as thyroid indices at admission of patients who died, when compared to infants who were discharged, showed no significant difference in T3, T4 or TSH levels. The above mentioned changes in thyroid indices probably occur as a temporary adaptive mechanism to limit catabolism in states of stress such as infection. Hence, it is suggested that thyroid function tests be interpreted with caution in patients with non-thyroid illness.

Neurosonographic abnormalities in neonates with hypoxic ischemic encephalopathy.

Pattern of neurosonographic (NSG) abnormalities in 150 term newborn infants with hypoxic ischemic encephalopathy (HIE) was studied. Sonographic abnormalities, presumably indicating cerebral edema and or ischemia, were observed in 86% (n = 129) cases. Obliteration of the ventricles occurred as the sole abnormality in 30 (20%) cases. Eighty (53%) patients had diffusely increased echogenicity of the brain parenchyma (DPE) in addition to the compression of the ventricles, sulci and the interhemispheric fissure. Focal parenchymal echodense (FPE) lesions occurred in nine (6%) neonates with HIE. Ten (6.6%) patients, however, had increased periventricular echogenicity (PVE). Two patients, one with focal parenchymal lesions and the other with PVE had obliterated ventricles in addition. Regarding temporal sequence earliest NSG abnormalities were DPE or slit like ventricles that were observed on day-1 itself. Focal or periventricular echogenic lesions, however, made their first appearance on day-3 of life. Twenty one patients had normal scans. Fifty patients with abnormal scans died. None of the infants with normal scans, however, died (p < 0.001). At 4 weeks of age, scans performed in 100 survivors revealed no abnormality in 51 cases. Others showed development of cerebral atrophy (n = 21), multicystic encephalomalacia (n = 2), porencephalic cyst (n = 1), or persistence of PVE without cystic changes (n = 4). The results of this study highlight the diagnostic efficacy of neurosonography in cases of HIE. We suggest that it should be incorporated in the routine evaluation of patients with hypoxic brain injury.

Ultrasound evaluation of kidney dimensions in neonates.

This study was done to measure normal renal dimensions of neonatal kidney at various gestational ages sonographically. Knowledge of these measurements may allow earlier diagnosis of a variety of abnormalities. Kidney dimensions (maximum longitudinal length, width, and anteroposterior diameter) were measured within 48 h after birth in 100 healthy neonates with gestational ages from 26.14 to 41.28 weeks and birth weights from 540 to 3250 g using a real time sector scanner with a 7.5 mHz transducer. Renal volume was calculated by volume (V) = L x W x T x 0.5233. Total body surface area (BSA) was determined by BSA = Wt0.425 x Lt0.725 x 71.84. Ponderal index was determined by PI = Wt (g) x 100/(Ht[cm])3. On linear regression analysis, a highly significant correlation was found between renal dimensions and body surface area, gestational age, body weight and length of the baby (p < 0.05). On step wise regression analysis, renal dimensions correlated only with body surface area and the gestational age of the neonate. Regression equations have been provided for rapid computation of renal length, width, and thickness in a given case based on body surface area and the gestational age. Mean (+/- 2 SD) renal volume and renal length were determined based separately on gestational age and body surface area. The data provided can be valuable for evaluating renal abnormalities in preterm neonates.

Ultrasonic evaluation of neonatal subependymal-intraventricular hemorrhage and its complications.

This study demonstrates the value of neurosonography in the evaluation of subependymal-intraventricular hemorrhage (SEH-IVH) and its major complications in the premature infant. Real time sector scans were performed on 150 premature neonates within first 24 hours of life (mean, 10 hrs), and then at 48, 72, and 96 hours and thereafter at weekly intervals. The incidence of SEH-IVH was 22% (n = 33). Twenty seven of the 33 infants had small hemorrhages (Grade I & II), 4 infants sustained Grade III hemorrhage and 2 infants had Grade IV hemorrhage. All hemorrhages occurred in the first 96 hours of life; 50% being diagnosed with the first scan. Larger grades of hemorrhages were generally symptomatic while majority of patients with small hemorrhages had no associated symptoms. The infants especially at risk were those less than 32 weeks' gestation (odds ratio, 29 fold) and/or birth-weight < 1200 gms (odds ratio, 6 fold). Three infants developed post hemorrhagic ventriculomegaly which subsided spontaneously in two of them by the age of 4 weeks. One infant progressed to post hemorrhagic hydrocephalus. The mortality in the study group was 11.3% (n = 17) and correlated to the severity of hemorrhage (39% vs 3.4%; hemorrhagic vs non hemorrhagic group, p < 0.001). At least one screening sonogram is essential within first 4 days of life to diagnose SEH-IVH, which may be otherwise clinically silent. Once the hemorrhage is diagnosed, followup evaluations may be done at weekly intervals to detect post-hemorrhagic ventriculomegaly.

Evaluation of risk factors for hearing impairment in at risk neonates by brainstem evoked response audiometry (BERA).

Thirteen (19.2%) of 68 at risk neonates in an intensive care nursery with one or more adverse perinatal clinical factors viz; prematurity (less than 37 wks), low birth weight (less than 2000 gm), hyperbilirubinemia requiring active intervention, birth anoxia, neonatal seizures, infections, aminoglycoside administration, and craniofacial malformations; were diagnosed to have hearing impairment (elevated auditory threshold) by BERA testing performed within the first six weeks of life at a mean conceptional (gestational age + age after birth) age of 40.2 +/- 0.6 wks. As against this, 20 healthy term neonates who were examined at a mean conceptional age of 40.4 +/- 0.8 weeks had a normal hearing threshold of 30 db nHL. Elevated auditory threshold was found more frequently in neonates with multiple clinical adverse factors than in those having single risk factor (6/13 Vs 7/55, p less than 0.001). On multiple logistic regression analysis, however, only 2 factors viz; hyperbilirubinemia at level exceeding indication for exchange transfusion and birth weight less than 1500 gm, were found to be significantly correlated with the hearing impairment in the affected neonates and in that order of importance. Prematurity, birth asphyxia, neonatal seizures, infections and aminoglycoside administration had no significant correlation with hearing impairment. Since most of the neonates admitted to the neonatal ICU have one or more identified adverse risk factors, their hearing screening by BERA at the time of discharge seems justified.

Coagulase negative staphylococcal septicemia in newborns.

The case records of 2177 newborn infants admitted in the Neonatal Intensive Care Unit (NICU) from January, 1989, through July, 1990, with positive blood cultures for coagulase-negative staphylococci (C-NS) were evaluated. Seventy four (3.4%) neonates yielded C-NS in blood cultures during the study period. Of these, 58 (2.7%) infants had clinical and hematological features compatible with the diagnosis of septicemia. Remaining 16 babies with positive cultures had no evidence of sepsis, and were designated as "C-NS bacteremia". The age at which positive cultures were obtained differed between the bacteremic and septicemic groups. In bacteremic group, the onset occurred between one to four days of age. In contrast, in septicemic group the range was 6-20 days, with a mean of 10.22 (+/- 3.53) days. More than two third of total cases of C-NS sepsis were premature and low birth weight (LBW). Prominent clinical features included lethargy, poor feeding and fever. Besides this apneic spells were seen predominantly in babies weighing less than 1500 g. Further, before the diagnosis of C-NS sepsis, more than half of neonates had received prolonged intravenous fluid therapy, a quarter had undergone umbilical catheterization and a further quarter needed a ventilator support. Overall mortality in C-NS sepsis was 17.24%, distinctly higher in neonates with RDS and those requiring mechanical ventilation (p less than 0.05). Only 1.34% C-NS isolates were resistant to all routinely used antibiotics and sensitivity was maximum with newer cephalosporins, ciproflox and amikacin.

Hearing assessment by brainstem auditory evoked responses (BAER) in neonates at risk.

In the present study, brainstorm auditory evoked responses (BAER) were recorded in 68 at risk neonates discharged from the neonatal ICU of Safdarjung Hospital. The high risk group of 35 neonates included 13 neonates with multiple (3-4) risk factors and 22 neonates with single risk factors, viz., prematurity (less than 32 weeks) low birth weight (LBW) (less than 1500 g), hyperbilirubinemia requiring exchange transfusion, severe birth asphyxia, craniofacial malformations and sepsis with meningitis treated with amikacin for 3 weeks. The remaining 33 neonates were grouped in the low risk category who had only one of the following factors: prematurity (33-36 weeks)/LBW (1500-2000 g), hyperbilirubinemia requiring phototherapy, mild/moderate birth asphyxia, or sepsis treated with amikacin for 2 weeks. The test was performed at the mean conceptional age of 40.2 weeks (range 34-44 weeks) and involved determination of threshold of hearing as per presence of wave V. A normal response had wave V at 30 dB hearing level click stimulus at 50/sec from both ears or to 30 dB hearing level from one ear and 45 dB hearing level from the other ear. Thirteen neonates of the high risk group failed to produce a normal response (5 failed at 30 dB, 6 failed at 45 dB, and 2 failed at 75 dB hearing level). Forty six per cent of them had multiple high risk factors. All the low risk group neonates had normal threshold of 30 dB hearing level in the initial screening.(ABSTRACT TRUNCATED AT 250 WORDS)

Auditory brainstem response in neonates with hypoxic-ischemic-encephalopathy following perinatal asphyxia.

The technique of auditory brainstem evoked responses testing (ABR) was applied to twenty four new born infants with asphyxia complicated by hypoxic-ischemic-encephalopathy (HIE) in an attempt to study potential influence of HIE on hearing impairment. Twenty normal term neonates with no apparent neurological disorder, were also examined for comparison. Twenty two per cent (n = 5) of the patients with HIE showed some abnormality in the ABR pattern, the major one being a transient elevation in threshold of wave V (n = 4; 16.6%). ABR abnormalities, however, were found with greater frequency in neonates with Stage II HIE (75% vs 10%, p less than 0.001). Further ABR abnormalities were found in Stage II HIE only when duration of neurological abnormalities was greater than 5 days. There was no difference, however, between the ABR latencies of the asphyxiated and non-asphyxiated newborn infants (p greater than 0.05). One neonate (4%) with severe HIE, however, had persistent ABR abnormality in the form of bilateral absence of all waves in the later part of the ABR with preservation of wave I. This implied only cochlear functions and absence of any brainstem conduction. These results indicate that birth asphyxia complicated by HIE is a significant high risk factor for hearing impairment in the affected neonates. This justifies ABR testing of neonates with HIE (particularly Stage III), at the time of their discharge, as a screening procedure for early detection of permanent hearing loss.

Wheezy baby syndrome--a possible sequelae of neonatal meconium aspiration syndrome.

Forty children aged 5 months to 3 years and suffering from wheezy baby syndrome (WBS) were evaluated to find out the prevalence of neonatal meconium aspiration syndrome (MAS) from the birth records. Twelve (30%) babies with WBS were detected to have a history of MAS at birth, significant enough to require a neonatal ICU admission. In contrast, only 2% of the 50 control non wheezy babies aged 6 months-3 years had a history of neonatal meconium aspiration syndrome (p less than 0.001). There was no significant difference in mean number of wheezing spells over six months in the neonatal MAS positive and MAS negative groups (3.4 vs. 3.2, p greater than 0.05). Family history of atopy was present in 64.3% of wheezing subjects with normal birth records, while none had such history in babies with neonatal MAS. The results of the present study suggested an association between neonatal MAS and subsequent wheezing.

Congenital syphilitic hepatitis.

Hepatitis is a known manifestation of congenital syphilis, however hepatitis developing during penicillin therapy is unknown. Ten patients of congenital syphilis were studied and serial liver enzymes were done before and after starting penicillin therapy. Eight of the ten patients developed hepatitis after initiating penicillin therapy. Whether hepatitis in these cases was secondary to toxic reaction to the products of treponemal lysis or an autoimmune reaction needs to be investigated.