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To generate normative data and validate the recently developed, gender-neutral, External Genitalia Score (EGS) in Indian preterm and term neonates and children up to 2 years of age with normal and atypical genitalia. This observational study included 1,040 neonates born between 28 and 42 weeks of gestation and 152 children between 1 and 24 months of age. In addition, 50 children with disorders of sex development (DSD) were also enrolled in the study. The Prader stage/external masculinization score (EMS) (as applicable), anogenital ratio (AGR) and EGS were assessed for all neonates and children with typical and atypical genitalia. Median EGS values in newborn males with typical genitalia were 9.5 at 28–31 weeks, 10.5 at 32–33 weeks, 11 at 34 weeks and 11.5 in males at 35–42 weeks of gestation. For all females with typical genitalia, the EGS was 0. EMS and EGS showed a positive correlation in males with typical genitalia (r=0.421, p=0.000**) and all children with DSD (r=0.857, p=0.000**). Mean AGR in males and females with typical genitalia and those with DSD were 0.52±0.07, 0.31±0.05 and 0.47±0.13, respectively. EGS correlated with AGR in all males with typical genitalia (r=0.107, p=0.008**), and in all children with DSD (r=0.473, p=0.001**). The EGS enables accurate, gender-neutral and comprehensive assessment of external genitalia in Indian neonates and children with typical and atypical genitalia/DSD. Evaluation for DSD is recommended in any child with EGS greater than 0 and ≤10th percentile for gestation or age (10.5 in a term neonate). [ABSTRACT FROM AUTHOR]

Objective: There is complete absence of sexual maturity data on patients afflicted with juvenile dermatomyositis (JDMS) from the Indian subcontinent. Hence, this study aimed to unfold the effect of this disease on the sexual development of JDMS children. Methods: In the Growth Laboratory/Clinic of the Department of Pediatrics, 60 (25 male and 35 female) sexual maturity-related observations were made on 35 JDMS patients, aged 10–17 years, enrolled from the Pediatric Rheumatology Clinic. Breast development stage and age of onset of menarche were recorded among female patients. In male patients, besides, determining the genitalia development stage, measurement of stretched penile length and testicular volume was done. Appearance of pubic and axillary hair among JDMS patients of both sexes was recorded. Results: Most girls with JDMS (34.28%) were in breast development stage-B2 (mean age 10.91 ± 1.08 years) and 22.86% had attained menarche. However, breast stage B5 was attained at 14.62 ± 1.06 years. JDMS girls reached stage B2 at the same age as their normal healthy counterparts. Onset of menarche was delayed by almost a year in JDMS girls. Age of attainment of genitalia stage G2 in JDMS boys (12 years) was delayed by 6 months as compared to well-off Chandigarh boys (11.5 years), whereas it was advanced by 1.5 years when contrasted with affluent Indian counterparts (13.3 years). Conclusion: Comparable pubertal attainments in JDMS males and somewhat delayed start of menarche in female JDMS patients as compared to their normal counterparts show that disease activity has a smaller effect on the sexual development of JDMS patients from north-western India. [ABSTRACT FROM AUTHOR]

Objective: In the hypothalamic-pituitary-gonadotrophin axis, estrogen plays a key role in the regulation of bone maturation and growth plate closure. This study was designed to explore the link between single nucleotide polymorphisms (SNPs) in the estrogen receptor 1 (ESR1) gene with idiopathic short stature (ISS) susceptibility in a North Indian population. Methods: Four SNPs of ESR1 (rs543650, rs6557177, rs2234693 and rs9340799) were genotyped by Sanger sequencing in ISS patients and controls. Linkage disequilibrium (LD) and haplotyping were done by SNPStat and SHEsisPlus software. The extent of LD was determined by calculating D' and R2 values in SNP paired combinations. Results: Fifty-two ISS patients were compared with 68 controls. A significant positive association was found between rs6557177 and rs543650 genotype and ISS susceptibility. The frequencies of the rs6557177 CC genotype [p=0.030; odds ratio (OR)=0.13; 95% confidence interval (CI): 0.01-1.10] and rs543650 genotype TT (p=0.043; OR=0.29; 95% CI: 0.09-0.92) were increased in the ISS group compared with controls. However, no significant correlation was observed between clinical parameters of patients and these SNPs. rs543650 showed strong LD with rs2234693 and rs9340799, similarly rs2234693 and rs9340799. Conclusion: Our study showed that the CC genotype at rs6557177 and TT genotype at rs543650 of ESR1 constituted a risk factor for developing ISS in North Indian children. These findings may lead to a better understanding of the SNPs associated with ISS susceptibility. [ABSTRACT FROM AUTHOR]

Age and gender specific growth charts for Indian children with Down syndrome (DS) based on longitudinal data have not been published. To establish percentile growth charts for DS children inhabiting northwestern parts of India, body weight and length/height of 1125 (Male: 752, Female: 373) children with DS aged <1 month to 10 years, enrolled from the "Genetics Clinic" were measured at half yearly age intervals in the "Growth Clinic" of the Institute from August 1994 to November 2018. A total of 2089 observations were made on these children using standardized anthropometric techniques and instruments following a prospective mixed‐longitudinal growth research design. Using the LMS method, age and sex‐specific percentile growth charts (<1 month to 10 years) for weight, and length/ height were generated. Unpaired t‐test was used to compare mean growth attainments of study children with those of DS patients representing other population groups as well as their normal Multicentre Growth Reference Study (MGRS and Indian Academy of Pediatrics (IAP) counterparts. The 50th percentile growth curves for both weight and length/height of Indian children with DS demonstrated a regular increase. As compared to their normal MGRS and Indian (IAP) counterparts, the children with DS had lower weight and height attainments. The boys and girls with Down syndrome showed short stature (height < 3rd centile) from the age of 1 year till 10 years and also became underweight beyond 5 years. As compared to their normal counterparts, children with Down syndrome exhibited compromised auxological attainments. The use of growth charts presented herein may be used to compare and monitor growth and nutritional status of Indian children with Down syndrome. [ABSTRACT FROM AUTHOR]

Objective: Short stature homeobox (SHOX) haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis. The worldwide prevalence of SHOX variations in ISS varies from 2.5% to 15.0%. The aim of this study was to assess the implication of SHOX variation in ISS in North Indians and compare this with other cases of SHOX variations from Asian population. Methods: SHOX gene analysis was carried out by multiplex ligation-dependent probe amplification followed by Sanger sequencing in 54 patients with variable phenotypes. Comparison with other reports in a meta-analysis comprising the current study and 11 previous studies (n=979) was performed. Results: SHOX analysis resulted in 12.9% positivity (7.4% deletions and 5.5% duplications). SHOX association was seen significantly related to gender, with predominance in females (p=0.047). Short arms and forearms were the only significantly associated trait seen in 51.9% of children. The overall prevalence of SHOX variation was 15.2% in Asians with ISS. No significant difference was found in geographical region-specific analysis. Conclusion: This study summarises findings from the last decade and provides an updated picture of the prevalence of SHOX variations in Asians, emphasizing their potential as therapeutic targets in ISS patients. Further high quality, large investigations including functional validation is warranted to validate this association. [ABSTRACT FROM AUTHOR]

The paper proposes a wearable multiband antenna applicable for ISM (Industrial, Scientific and Medical) band, bluetooth, WiMAX, upper WLAN, fifth-generation (5G) smartphone applications, INSAT and radio altimeter, X-band, point-to-point hi-speed wireless, satellite TV, and C-band applications. This antenna is designed to function at resonance frequencies of 2.45 GHz, 4.6 GHz, 6.6 GHz and 8.2 GHz. The proposed textile antenna design dimensions are 50x80x0.56mm3.The antenna presented 47% impedance bandwidth covering the ISM band. The simulated value of the gain provided by the proposed wearable textile antenna is 5.59 dBi, 3.67 dBi, 3.99 dBi, 4.42 dBi at 2.45 GHz, 4.6 GHz, 6.6 GHz and 8.2 GHz resonant frequencies respectively.Simulations are therefore carried out using the human tissue model to show the specific absorption rate (SAR) value of the proposed antenna at different resonant frequencies. The antenna is fabricated and the simulated reflection coefficient validation is done with the measured results. The Antenna in off space provides 45% (2.1-3.32 GHz) impedance bandwidth. The antenna measured on the back of the human body provides percentage impedance bandwidth of 145% covering 1.4 to 8.8 GHz frequency band applicable for ISM band and other wireless applications. [ABSTRACT FROM AUTHOR]