SOFT syndrome with kohlschutter-Tonz syndrome.

We report a 2.2 year-old-boy, born of consanguineous marriage, referred for short stature, with history of neonatal death and skeletal deformities in his older sibling. Rhizo-mesomelic dwarfism was detected antenatally. Within 24 hours of birth, he developed multiple seizures. Examination revealed severe short stature, dolichocephaly, broad forehead, deep set eyes, low set ears, bulbous nose, small, irregular teeth, pointed chin, and triangular facies. He had rhizomelic shortening, stubby fingers, pes planus, and scanty hair. Neurological evaluation revealed ataxia, hypotonia, and global developmental delay. Skeletal survey radiograph revealed shallow acetabuli, short femurs and humerus, short, broad metacarpals and short cone-shaped phalanges with cupping of phalangeal bases. Clinical exome analysis revealed homozygous mutations involving the POC1A gene and the SLC13A5 gene responsible for SOFT syndrome and Kohlschutter-Tonz syndrome respectively, which were inherited from the parents. Both these syndromes are extremely rare, and their co-occurrence is being reported for the first time.

Utility of waist-to-height ratio, waist circumference and body mass index in predicting clustered cardiometabolic risk factors and subclinical vascular phenotypes in children and adolescents: A pooled analysis of individual data from 14 countries.

AIMS: The clinical utility of waist-to-height ratio (WHtR) in predicting cardiometabolic risk factors (CMRFs) and subclinical markers of cardiovascular disease remains controversial. We aimed to compare the utility of WHtR with waist circumference (WC) and body mass index (BMI) in identifying children and adolescents (youths) at risk for cardiometabolic outcomes, including clustered CMRFs, high carotid intima-media thickness (cIMT), and arterial stiffness (assessed as high pulse wave velocity, PWV). METHODS: We analyzed data from 34,224 youths (51.0 % boys, aged 6-18 years) with CMRFs, 5004 (49.5 % boys, aged 6-18 years) with cIMT measurement, and 3100 (56.4 % boys, aged 6-17 years) with PWV measurement from 20 pediatric samples across 14 countries. RESULTS: WHtR, WC, and BMI z-scores had similar performance in discriminating youths with ≥3 CMRFs, with the area under the curve (AUC) (95 % confidence interval, CI)) ranging from 0.77 (0.75-0.78) to 0.78 (0.76-0.80) using the modified National Cholesterol Education Program (NCEP) definition, and from 0.77 (0.74-0.79) to 0.77 (0.74-0.80) using the International Diabetes Federation (IDF) definition. Similarly, all three measures showed similar performance in discriminating youths with subclinical vascular outcomes, with AUC (95 % CI) ranging from 0.67 (0.64-0.71) to 0.70 (0.66-0.73) for high cIMT (≥P95 values) and from 0.60 (0.58-0.66) to 0.62 (0.58-0.66) for high PWV (≥P95 values). CONCLUSIONS: Our findings suggest that WHtR, WC, and BMI are equally effective in identifying at-risk youths across diverse pediatric populations worldwide. Given its simplicity and ease of use, WHtR could be a preferable option for quickly screening youths with increased cardiometabolic risk in clinical settings.

Body fat reference percentiles on healthy affluent Indian children and adolescents to screen for adiposity.

BACKGROUND: Indian children and adolescents have higher body fat percentage at a given body mass index than their Western counterparts. OBJECTIVE: To create gender-specific percentile curves for total body fat percentage (TBFP), total body fat mass (TBFM), fat mass index (FMI) and android:gynoid (A:G) ratio for screening adiposity in healthy Indian children. METHODS: Data on body composition by dual-energy X-ray absorptiometry were obtained from a cross-sectional study conducted from May 2006-July 2010 on 888 (462 boys) apparently healthy children from affluent area schools and colleges in Pune city, India. Reference percentile curves were derived for boys and girls for TBFP, TBFM, FMI and A:G ratio. These percentile curves were validated using data on metabolic syndrome risk components in separate sample of 332 (148 boys) children. RESULTS: The median TBFP increased little (4%) from 5 to 18 years of age in boys compared with that in girls (19%). TBFP percentiles showed plateau after 13 years of age in boys, whereas a steady increase was seen till 18 years in girls. The median TBFM increased less (7 kg) from 5 to 18 years in boys compared with that in girls (13.4 kg). The curve for median FMI in boys was relatively flat with FMI remaining near 3 kg m(-2) after 13 years of age, whereas in girls median FMI increased with age till about 15 years of age. A:G ratio curves increased with age in both boys and girls up to 18 years of age. In a separate sample of 332 children, according to percentiles developed in the current study, children with TBFP/TBFM/FMI percentiles between 85th and 95th or >95th percentile had significantly higher metabolic risk parameters as compared with those with <85th percentile (P<0.05). CONCLUSIONS: Percentile curves developed in the current study would be useful in assessment of adiposity and thus cardiometabolic risk in Indian children.

Efficacy of a continuous metabolic syndrome score in Indian children for detecting subclinical atherosclerotic risk.

OBJECTIVE: To evaluate the continuous metabolic syndrome score (cMetS) in Indian children and to investigate its relationship with the risk of carotid arterial stiffness. METHODS: Data on weight, height, mean arterial pressure, serum lipids, insulin, glucose, carotid intima-media thickness and stiffness parameters, that is, pulse wave velocity (PWV), elasticity modulus (Ep), stiffness index (ß) and arterial compliance (AC), were assessed in 236 children (6-17 years) from Pune city, India. cMetS was computed using standardized Z-scores for metabolic syndrome (MS) components. cMetS cutoff was obtained by receiver operating characteristic curve analysis across MS components. RESULTS: cMetS was lowest (-3.6±2.0) in normal children and highest (3.3±2.4) in MS children. cMetS increased progressively with number of risk components. The cutoff of cMetS yielding maximal sensitivity (80%) and specificity (94%) for predicting the presence of MS was -0.8 (area under the curve=0.921 (95% CI: 0.877-0.964)). In children with cMetS above -0.8, average PWV (4.3±0.6 m s(-1)), ß (3.8±1.2) and Ep (50.4±14.5 kPa) were significantly higher than the respective values (3.7±0.5 m s(-1); 3.4±0.8; 37.0±10.0 kPa) in children with cMetS below -0.8, whereas AC was lower (1.2±0.5 mm(2) kPa(-1)) in children with cMetS above -0.8 as against AC (1.4±0.3 mm(2) kPa(-1)) in children with cMetS below -0.8 (P<0.05), demonstrating the risk of stiffness with increasing score. Pearson's correlation coefficients of cMetS with PWV (r=0.575), ß (r=0.347), AC (r=-0.267) and Ep (r=0.530) were statistically significant (P<0.01). CONCLUSION: Results demonstrate the usefulness of cMetS over individual MS components as a better tool for assessment of atherosclerotic risk in children.

Bone status of adolescent girls in Pune (India) compared to age-matched South Asian and white Caucasian girls in the UK.

UNLABELLED: Underprivileged adolescent girls in Pune, India, were shorter and lighter, and had reduced lean body mass (LBM) compared with relatively 'well off' age-matched South Asian and white Caucasian girls in the UK. Pune girls had low bone mass for projected bone area (BA) in comparison to their UK counterparts, but they had the appropriate amount of bone mineral content (BMC) for their LBM. PURPOSE: To determine whether adolescent girls from a low socioeconomic group in Pune, India, who had low dietary calcium intake (449 mg/day; range 356-538 mg/day) and hypovitaminosis D (median serum 25-hydroxyvitamin D 23.4 nmol/l; range 13.5-31.9 nmol/l), would have lower lumbar spine (LS) bone mineral apparent density (BMAD), and total body (TB) BMC adjusted for LBM. METHODS: Dual energy X-ray absorptiometry was used to measure TB and LS BMC, BA and TB LBM in 50 postmenarcheal girls in Pune. These variables were compared with data from 34 South Asian and 82 white Caucasian age-matched girls in the UK. RESULTS: Pune girls were shorter and lighter, and had less LBM for height, compared to both UK groups, and they had later age of menarche than UK Asians. BA-adjusted TB BMC and LS BMAD were lower in Pune girls (mean+/-SE 1,778+/-17 g; 0.332+/-0.005 g/cm(3)), compared to the UK South Asians (mean+/-SE 1,864+/-18 g; 0.355+/-0.006 g/cm(3)) and UK white Caucasians (mean+/-SE 1,864+/-13 g; 0.345+/-0.004 g/cm(3)). In contrast both LS and TB BMC adjusted for TB LBM were not significantly different between the groups. CONCLUSION: Pune girls had low bone mass for projected BA relative to UK South Asian and white Caucasian girls, but had the appropriate amount of BMC for their LBM.

Crosssectional growth curves for height, weight and body mass index for affluent Indian children, 2007.

BACKGROUND: The assessment of growth is crucial in child care and reference data are central to growth monitoring. As the pattern of growth of a population changes with time it is recommended that references be updated regularly. OBJECTIVE: To produce contemporary growth curves for Indian children from 5-18 years for height, weight and BMI. DESIGN: Cross-sectional. SETTING: Multicentric, School based. PARTICIPANTS: 19834 children were measured from 10 affluent schools from five major geographical regions of India. Data were analyzed on 18666 children (10496 boys and 8170 girls) using the LMS method and smoothed percentiles 2007 were produced. RESULTS: Compared to the 1989 data, median height at 18 years was 0.6 cm greater for boys but unchanged for girls, while the 97th height percentile had increased by 1.7 cm for boys and 2 cm for girls. Boys and girls were heavier and taller at almost all ages. The study also showed that boys and girls were taller at a younger age. CONCLUSIONS: Contemporary cross sectional reference percentile curves for height, weight and body mass index for the assessment of physical growth of present day Indian children are presented.

Growth hormone in turner syndrome.

We assessed the effect of one year of therapy with recombinant Human Growth Hormone (rhGH) on growth velocity of 16 Indian girls with Turner Syndrome (TS) in a prospective, open trial. Patients received rhGH in a dose of 1 IU (0.3 mg)/kg/week. The mean pretreatment height was 117.1 cms (Z score minus 3.4), height velocity was 3.8 cm per year (Z score minus 2.4), and predicted height was 140 cm. At the end of therapy mean height was 123.9 (Z score minus 3.1), height velocity was 6.7 cm per year (Z score + 1.7), and the predicted height was 142.4 cm. The increment in height velocity with growth hormone therapy was statistically significant (P value = 0.001) and the mean increment in predicted height was 2.4 cm. Our study shows that girls with TS in India benefit from therapy with rhGH.

Ovarian and uterine ultrasonography in healthy girls between birth to 18 years.

The aim of our study was to determine the pattern of female reproductive organ growth in Indian girls from birth to 18 years of age and to correlate the uterine length, mean ovarian volume (MOV) and Fundo Cervical Ratio (FCR) with chronological age, bone age and pubertal breast staging. A cross sectional study was performed on 218 girls from birth to 18 years of age. Height, weight, stage of puberty, X-ray for bone age and transabdominal ultrasounds were performed on all girls. Higher chronological age, bone age and increase in breast stage significantly predicted higher MOV (P < 0.001) and higher uterine length (P < 0.001). The MOV, uterine length and FCR are positively correlated with chronological age, bone age, height, weight and breast staging. Data from present study may be useful in screening cases of precocious puberty and other disorders that may need further evaluation.

Transcutaneous electrical nerve stimulation (TENS) for chronic low-back pain.

BACKGROUND: Chronic low-back pain (LBP) affects a significant proportion of the population. Transcutaneous electrical nerve stimulation (TENS) was introduced more than 30 years ago as an adjunct to the pharmacological management of pain. However, despite its widespread use, the usefulness of TENS in chronic LBP is still controversial. OBJECTIVES: The aim of this systematic review was to determine the effectiveness of TENS in the management of chronic LBP. SEARCH STRATEGY: We searched the Cochrane Central Register of Controlled Trials (Issue 2, 2005), MEDLINE, EMBASE and PEDro up to April 1, 2005. SELECTION CRITERIA: Only randomized controlled clinical trials (RCTs) evaluating the effect of TENS on chronic LBP were included. Abstracts were excluded unless further data could be obtained from the authors. DATA COLLECTION AND ANALYSIS: Two reviewers independently selected trials and extracted data using predetermined forms. Heterogeneity was tested with Cochrane's Q test. A fixed effect model was used throughout for calculating continuous variables, except where heterogeneity existed, in which case, a random effects model was used. Results are presented as weighted mean differences (WMD) with 95% confidence intervals (95% CI), where the difference between the treated and control groups was weighted by the inverse of the variance. Standardized mean differences (SMD) were calculated by dividing the difference between the treated and control by the baseline variance. SMD were used when different scales were used to measure the same concept. Dichotomous outcomes were analyzed with odds ratios. MAIN RESULTS: The only two RCTs (175 patients) meeting eligibility criteria differed in study design, methodological quality, inclusion and exclusion criteria, type and method of TENS application, treatment schedule, co-interventions and final outcomes. In one RCT, TENS produced significantly greater pain relief than the placebo control. However, in the other RCT, no statistically significant differences between treatment and control groups were shown for multiple outcome measures. Pre-planned subgroup analyses, intended to examine the impact of different stimulation parameters, sites of TENS application, treatment durations and baseline patient characteristics were not possible due to the small number of included trials. AUTHORS' CONCLUSIONS: There is inconsistent evidence to support the use of TENS as a single treatment in the management of chronic LBP. Larger, multi-center, randomized controlled trials are needed to better assess the true effectiveness of TENS. Special attention should be given to the risks and benefits of long-term use, which more appropriately addresses the realities of managing chronic low-back pain.

Concomitant use of insulin glargine and NPH in type I diabetes.

In a prospective study on 11 patients with Type 1 diabetes we evaluated the glycaemic control and hypoglycaemic episodes on a combination therapy of pre-mixed and glargine insulin. Glycosylated hemoglobin (HbA1C), fasting (FPG) and Post Prandial blood glucose (PPG) levels were recorded at baseline and three monthly intervals for a period of 6 months. The mean HbA1C reduced from 9.5 to 7.3 %, incidence of hypoglycemias from 1.6 to 0.8, mean FPG from 146.5 to 90.4 and mean PPG from 258.4 to 184 over a six-month observation period. This regimen also helps to avoid injection of insulin before lunch so that child's school schedule is minimally disturbed and yet the incidence of hypoglycemia is not increased.

Studies of vehicular padding materials.

The Federal Motor Vehicle Safety Standard 571.201 discusses occupant protection with interior impacts of vehicles. Rule making by the National Highway Traffic Safety Administration (NHTSA) has identified padding for potential injury reduction in vehicles. In these studies, head injury mitigation with padding on vehicular roll bars and brush bars was evaluated. Studies were conducted with free falling Hybrid 50% male head form drops on the forehead and side of the head and a 5% female head. Marked reductions in angular acceleration, as well as Head Injury Criterions (HIC), were observed when compared to unpadded roll bars and brush bars.

Cushing's disease in an 11-month-old child.

Cushing's disease (Pituitary tumor causing bilateral adrenal hyperplasia) is very rare in children and more so in infants. Cushing's syndrome in pediatric patients is usually due to adrenal tumors. We report a case of an 11-month-old child with Cushing's disease caused by a Pituitary macroadenoma.

Oral bisphosphonates in polyostotic fibrous dysplasia.

The bisphosphonates inhibit osteoclastic bone resorption and have been used as an intravenous infusion in fibrous dysplasia of the bone. Oral bisphosphonates are cheaper and also easy to administer. We report a case of polyostotic fibrous dysplasia in a three-year-old child who showed significant improvement in bone mineral density after treatment with oral alendronate.

Acalvaria.

Acalvaria is a rare congenital malformation in which the flat bones of the cranial vault, duramater and associated muscles are absent but the central nervous system is usually unaffected. Acalvaria has usually been described as a fatal anomaly and reports are rare in the Indian literature. We report a living case of acalvaria.

Body fat indices for identifying risk of hypertension in Indian children.

BACKGROUND: High adiposity is major risk factor for hypertension. Various anthropometric indices are used to assess excess fatness. OBJECTIVES: (1) To examine relationship of body mass index (BMI), waist circumference (WC), waist to height ratio (WHtR), triceps skin fold thickness (TSFT) and wrist measurements with blood pressure in children and adolescents 2) to suggest age- and gender-specific cutoffs for these indices in Indian children. METHODS: Cross-sectional school-based study on a random sample of 6380 children (6-18 yr old, 3501 boys) from five major cities in India. Height, weight, waist and wrist circumference, TSFT, and blood pressure were recorded. Children with systolic blood pressure (BP) and/or Diastolic BP >95th percentile were classified as hypertensive. RESULTS: Prevalence of overweight and obesity was 23.5% and 9.7%, respectively. Hypertension was observed in 5.6%. Multiple logistic regression (adjustments: age, gender) indicated double risk of hypertension for overweight and 7 times higher odds for obese than normal-weight children. Children with TSFT >95th centile for US children showed three times risk and with TSFT from 85th to 95th double risk of hypertension. Higher WC and WHtR exhibited 1.5 times risk and larger Wrist 1.3 times higher risk of hypertension (P<0.001). Receiver operating curve (ROC) analysis provided age-gender specific cut offs for the five indices to detect the risk of high BP. Area under ROC curves (AUC) for five indices were similar and greater in older age groups indicating equal sensitivity and specificity. Conclusion: Using age- and gender-specific cutoffs for BMI, TSFT, WC or WHtR may offer putative markers for early detection of hypertension. CONCLUSION: Using age- and gender-specific cutoffs for BMI, TSFT, WC or WHtR may offer putative markers for early detection of hypertension.

Body mass index cut-offs for screening for childhood overweight and obesity in Indian children.

OBJECTIVE: To develop age and sex specific cut offs for BMI to screen for overweight and obesity in Indian children linked to an adult BMI of 23 and 28 kg/m2 respectively, using contemporary Indian data. DESIGN: Cross-sectional. SETTING: Multicentric, School based. PARTICIPANTS: 19834 children were measured from 11 affluent schools from five major geographical regions of India. Data were analyzed using the LMS method, which constructs growth reference percentiles adjusted for skewness. RESULTS: Compared to the cut-offs suggested for European populations and those by the Indian Academy of Pediatrics 2007 Guidelines, the age and sex specific cut off points for body mass index for overweight and obesity for Indian children suggested by this study are lower. CONCLUSIONS: Contemporary cross-sectional age and sex specific BMI cut-offs for Indian children linked to Asian cut-offs of 23 and 28 kg/m2 for the assessment of risk of overweight and obesity, respectively are presented.