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Simmi K. Ratan

Bio: Simmi K. Ratan is an academic researcher from Maulana Azad Medical College. The author has contributed to research in topics: Cyst & Hypospadias. The author has an hindex of 13, co-authored 105 publications receiving 828 citations. Previous affiliations of Simmi K. Ratan include Safdarjang Hospital & Pt. B.D. Sharma PGIMS Rohtak.


Papers
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Journal ArticleDOI
TL;DR: The existence of anomalies in distantly developing anatomic regions in patients with ARM supports the possibility of a "generalized" insult during embryogenesis rather than a ("localized") defect.
Abstract: Background/Purpose The aim of this study was to compare the incidences of various associated anomalies among subjects with high and low anorectal malformation (ARM), study the coexistence of these anomalies, and compare their frequency with those quoted in the existing literature. Methods Ten years of data (from January 1993 through December 2002) on the 416 subjects from our center with anorectal malformations (ARM) were evaluated. The subjects with supra or translevator rectal pouch (radiologic or operative findings) were classified as high ARM and the rest as low ARM. The associated anomalies studied were vertebral, skeletal, renal, cardiac, vesicoureteric reflux (VUR), gastrointestinal, tracheoesophageal fistula, spinal, genital, and miscellaneous. For a detailed comparison, 4 subgroups were made: boys with high ARM, boys with low ARM, girls with high ARM, and girls with low ARM. Statistical methods were used for intergroup comparison. Results There were 68% male and 32% female subjects. Overall, 58% of subjects had high ARM (supralevator and translevator). Our attempt to compare the incidences of anomalies in our study population with those in other populations was defeated because of nonuniformity of classification and investigation of these anomalies in different studies. We found a frequent clubbing of anomalies affecting distantly developing anatomic regions in patients with ARM in many studies. The highest incidence of associated anomalies was found among boys with high ARM. The male subjects also had significantly more genital anomalies in association with low ARM and gastrointestinal tract anomalies in association with high ARM. On the other hand, girls had more urologic anomalies with high ARM and VUR with low ARM. Conclusions Except for a low incidence of spinal anomalies (8%) and of VUR (1.7%), the incidences of most associated anomalies in our study were comparable with those of the earlier studies. Additionally, the girls with high ARM were observed to have significantly more urologic anomalies compared with the boys with high ARM in contrast to the results of the earlier reports. The existence of anomalies in distantly developing anatomic regions in patients with ARM supports the possibility of a “generalized” insult during embryogenesis rather than a (“localized”) defect. It was observed that the boys with ARM are more likely to suffer morbidity because of frequent occurrence of multiple associated anomalies, and it may be worthwhile to evaluate of the role of sex chromosome in relation to ARM. The authors are also of the view that there is a need for more uniformity in classification of the anomalies and in their diagnostic approach because various reported studies have differed so widely on these aspects that any interstudy comparison is difficult or not feasible.

80 citations

Journal ArticleDOI
TL;DR: Patients with ARM should undergo a detailed general physical, systemic and radiological examination in neonatal period to detect associated anomalies in early period.
Abstract: Objective : To find the prevalence of associated anomalies in children with anorectal malformation (ARM).Methods: One hundred and forty patients (80 males and 60 females) with expand were studied to detect associated anomalies and to find their prevalence. High and low type of ARM was seen in 52.14% and 47.86% of patients respectively. Associated anomalies were more common with high type of ARM (78.08%) than in patients with low type of ARM (37.31%). 58.57% patients had associated anomalies which included those of urinary system (37.14%), vertebral system (34.28%), skeletal system other than vertebral (15.17%), genital system (14.29%), cardiovascular system (12.14%), gastrointestinal tract (10.7%) and spinal cord (10%).Results : 37.43% patients had 3 or more than 3 components of VACTERL association. Two patients had all six components of VACTERL. Most common association was vertebral, anal and renal anomalies seen in 16 patients.Conclusion : Patients with ARM should undergo a detailed general physical, systemic and radiological examination (infantogram, echocardiography, US of urogenital system) in neonatal period to detect associated anomalies in early period

54 citations

Journal ArticleDOI
TL;DR: The emergence of father’s serum homocysteine levels as an independent risk factor for NTD and also other congenital anomalies calls for further studies to evaluate if this can be taken as a marker for congenitals anomalies in the fetus during antenatal screening.
Abstract: The aim of this study is to evaluate the folate, vitamin B12, fluoride and homocysteine levels in newborns with neural tube defect (NTD) and their parents. The study included 35 neonates with NTD and their parents, 31 neonates with congenital anomalies other than NTD formed control 1, 24 neonates with no anomalies, with the highest birth order and normal siblings formed control 2. These groups matched for socio-economic and nutritional status. Demographic, antenatal history, parental habits, folate (RBC, whole blood and serum), serum vitamin B12 and homocysteine levels were estimated using chemiluminescence technology. Chi-square test was used to assess association between factors and the outcome. One-way ANOVA was used to compare means in the three groups. To determine the risk factors for NTD, odds ratios (95% CI) was computed using bivariate and multivariate logistic regression analysis (STATA 9.0). No difference was found between NTD group and ‘control 1’ group. The fathers in NTD group had significantly lower folate and vitamin B12 and a higher homocysteine, in comparison to ‘control 2’ group (i.e. with normal babies). The babies with NTD had higher homocysteine while their mothers had significantly low folate levels in comparison to ‘control 2’ mothers. Low RBC folate, low serum vitamin B12 and high plasma homocysteine in both the parents had an association with NTD. Multivariate logistic regression revealed high homocysteine of father as the only independent significant risk factor [OR(95% CI):2.6(2.6, 226)] for NTD and also for other anomalies. NTD (and other congenital anomalies) may not only be due to nutritional deficiency in the mothers but also due to more intricate gene–nutrient interaction defects in the affected families, probably some abnormal folate-homocysteine metabolism. These defects seem to be affect the fathers more severely and in all likelihood, get transmitted to the babies from either or both the parents. The emergence of father’s serum homocysteine levels as an independent risk factor for NTD and also other congenital anomalies calls for further studies to evaluate if this can be taken as a marker for congenital anomalies in the fetus during antenatal screening.

53 citations

Journal ArticleDOI
TL;DR: The study revealed that children younger than 2 years of age and those suffering severe head injuries, i.e. with low Glasgow Coma Score, have higher likelihood of suffering convulsions after head injury, however, none of the radiological findings were found to be significantly associated with posttraumatic convulsion.
Abstract: The purpose of this study was to determine predictors of posttraumatic convulsions in children. Study subjects included children under 12 years of age, who were admitted to the Safdarjang Hospital, New Delhi, during the year 1997 (January to December) after suffering head trauma. The occurrence of first convulsion after head injury was taken as the outcome variable in the study. Medical records were reviewed for data about clinical, radiological and epidemiological features of such children. The study revealed that children younger than 2 years of age (odds ratio, OR 2.96; 95% confidence interval, CI 1.42–6.21), those suffering severe head injuries, i.e. with low Glasgow Coma Score (OR 3.07; 95% CI 1.40–6.77), and those with longer period of unconsciousness after head trauma, especially longer than 12 h (OR 1.71; 95% CI 0.69–4.19) have higher likelihood of suffering convulsions after head injury. However, none of the radiological findings were found to be significantly associated with posttraumatic convulsions.

43 citations

Journal ArticleDOI
TL;DR: In this article, the authors compared tunica vaginalis with dartos fascia for soft tissue coverage of the neourethra in primary hypospadias repair and found that TVF may have an edge over darts fascia.
Abstract: Aim: To compare tunica vaginalis with dartos flap as soft tissue cover in primary hypospadias repair. Materials and Methods: 25 cases (age range: 12-132 months; all fresh cases) of primary hypospadias were prospectively repaired by tubularized incised plate (TIP)/TIP + graft urethroplasty using tunica vaginalis flap (TVF) as soft tissue cover to urethroplasty (group A). Their results were compared with another set (group B) of age- and anatomy-matched controls (25 patients operated during the previous 3 years) who had undergone TIP repair using dartos flap as soft tissue cover. Statistical analysis of results was done with Fischer's exact test. Results: Group A: No fistula, skin necrosis, meatal stenosis, urethral stricture. One case had partial wound dehiscence that resolved on conservative treatment with no sequelae. One case required catheter removal on 3 rd day because of severe bladder spasm. There was no testicular atrophy/ascent. Group B: 3 fistulae - all required surgery. There were three cases of superficial skin necrosis that healed spontaneously without sequel. There was no meatal stenosis/urethral stricture. The difference in fistula rate between both the groups, however, was not statistically significant (P = 0.4). Conclusion: TVF may have an edge over dartos fascia for soft tissue coverage of the neourethra.

35 citations


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19 Jan 2016
TL;DR: “Research Design” (Research Design: Qualitative, Quantitative, and Mixed Method Approaches) ว�’หนงสอทเรยบ บายเ“ส’”
Abstract: หนงสอเรอง การออกแบบการวจย: วธการวจยเชงคณภาพ วธการวจยเชงปรมาณ และวธการวจยแบบผสม (Research Design: Qualitative, Quantitative, and Mixed Method Approaches) เปนหนงสอทเรยบเรยงเพออธบายเกยวกบความแตกตางของกระบวนทศนการวจยทง 2 แบบ ไดแก การวจย เชงปรมาณ และการวจยเชงคณภาพ และความจำเปนของประเดนปญหาการวจยทตองนำกระบวนทศนทง 2 มารวมกนหาขอคนพบเพอนำไปสผลการวจยทสามารถนำผลการวจยไปใชประโยชนไดอยางจรงมากยงขน เรยกวา “การวจยแบบผสมผสาน” ซงเปนหนงสอทอธบายวธการวจยทง 2 ประเภทไดอยางชดเจน และการรวมกนของกระบวนทศนการวจยทง 2 แบบอยางลงตว

4,104 citations

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TL;DR: Melanogenesis is a highly structured system, active since early embryogenesis and capable of superselective functional regulation that may reach down to the cellular level represented by single melanocytes, and its significance extends beyond the mere assignment of a color trait.
Abstract: Cutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory control by multiple agents interacting via pathways activated by receptor-dependent and -independent mechanisms, in hormonal, auto-, para-, or intracrine fashion. Because of the multidirectional nature and heterogeneous character of the melanogenesis modifying agents, its controlling factors are not organized into simple linear sequences, but they interphase instead in a multidimensional network, with extensive functional overlapping with connections arranged both in series and in parallel. The most important positive regulator of melanogenesis is the MC1 receptor with its ligands melanocortins and ACTH, whereas among the negative regulators agouti protein stands out, determining intensity of melanogenesis and also the type of melanin synthesized. Within the context of the skin as a stress organ, melanogenic activity serves as a unique molecular sensor and transducer of noxious signals and as regulator of local homeostasis. In keeping with these multiple roles, melanogenesis is controlled by a highly structured system, active since early embryogenesis and capable of superselective functional regulation that may reach down to the cellular level represented by single melanocytes. Indeed, the significance of melanogenesis extends beyond the mere assignment of a color trait.

1,737 citations

Journal ArticleDOI
TL;DR: Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of M PS, as seen for other rare genetic diseases.
Abstract: The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1.7 and 1.3%, respectively. A retrospective epidemiological data collection was performed in Switzerland between 1975 and 2008 (34years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12, 24, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3 and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS is also reported to be higher in these countries. Birth prevalence of MPS II in Switzerland and other European countries is comparatively lower. The birth prevalence of MPS III and IV in Switzerland is higher than in Japan but comparable to that in most other European countries. Moreover, the birth prevalence of MPS VI and VII was very low in both, Switzerland and Japan. Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of MPS, as seen for other rare genetic diseases. Methods for identification of MPS patients are not uniform across all countries, and consequently, if patients are not identified, recorded prevalence rates will be aberrantly low.

996 citations

Journal ArticleDOI
TL;DR: Dealing with sebaceous carcinoma is important prognostically but sometimes challenging with routine histopathology, androgen receptor (AR) was found to be confirmatory in only 36% of cases and not dependent on the size of the tumor available.
Abstract: 1757 Identification of Ocular Sebaceous Neoplasia with Evaluation for Mismatch Repair Proteins L Schoenfield, J Anthony, R Djohan, I Lalak, M Levine, P Ng, J Perry, A Singh, T Plesec. Cleveland Clinic, Cleveland, OH. Background: Recognizing sebaceous carcinoma is important because of its risk for metastasis and tumor death. Histopathology alone is often difficult because fresh tissue for oil red-O stain is not always available. Several immunohistochemical stains (IHC) have been evaluated but often the diagnosis is elusive. Furthermore, the diagnosis of a sebaceous adenoma or carcinoma raises the possibility of Lynch syndrome, a cancer predisposition syndrome. Mismatch repair protein(MMR) abnormalities are a feature of Lynch syndrome, and they can be detected with IHC for the MLH1, MSH2, PMS2, and MSH6 proteins. Design: 14 sebaceous carcinomas and 3 adenomas from the eyelid (17 specimens) from 14 patients were evaluated for oil red-O when possible as well as IHC for AR, EMA, BER-EP4, CAM5.2 for diagnosis. MMR for MLH1, MSH2, PMS2, and MSH6 by IHC were evaluated as a possible screening panel for Lynch syndrome. Two patients already had other tissue tested by PCR for microsatellite instability (MSI) for Lynch syndrome. Results: Oil red-O was done on 6 of 17 specimens and positive in 5 of the 6 (83%). AR was positive in 2 of 3 adenomas (67%) and 5 of 14 carcinomas (36%). EMA was positive in 2 of 3 adenomas (67%) and 11 of 14 carcinomas (79%). BER-EP4 was negative in all 3 adenomas and positive in 7 of 14 carcinomas (50%). CAM5.2 was positive in 1 of 3 adenomas (33%) and 8 of 14 carcinomas (57%). All 17 specimens(100%) showed positive nuclear staining for MLH1 and PMS2, indicative of normal protein expression. In 14 of 17 specimens from 12 patients, MSH2 and MSH6 were also normal. 3 specimens from 2 patients that had rare positive cells for MSH2 and MSH6. Both patients had previous colonic tumors tested for MSI and were found to be MSI-H, indicative of possible Lynch syndrome. Conclusions: Diagnosing sebaceous carcinoma is important prognostically but sometimes challenging with routine histopathology. In our experience androgen receptor (AR) was found to be confirmatory in only 36% of cases and not dependent on the size of the tumor available. The other IHC stains were of marginal benefit and not specific. While none of the cases showed complete loss of expression of a MMR protein, there were 2 patients in with only rare positive cells who had known MSI-H tumors in the colon, suggestive of Lynch syndrome. Additional studies of these eyelid tumors may elucidate the possible role of using them for screening for Lynch syndrome.

468 citations

Journal ArticleDOI
TL;DR: Female sex is associated with significantly higher odds of poor outcome after mTBI, as measured by PCS score, after control for appropriate confounders, and the observed pattern of peak disability for females during the child-bearing years suggests disruption of endogenous estrogen or progesterone production.
Abstract: The objective of this study was to estimate the independent association of sex with outcome after mild traumatic brain injury (mTBI). We performed an analysis of a subset of an established cohort involving 1425 mTBI patients presenting to an academic emergency department (ED). The associations between sex and three outcomes determined 3 months after the initial ED visit were examined: post-concussive symptom (PCS) score (0, 1–5, 6–16, and >16), the number of days to return of normal activities (0, 1–7, and >7), and the number of days of work missed (0, 1–7,and >7). Logistic regression analyses were used to determine the relationship between sex and each outcome after controlling for 12 relevant subject-level variables. Of the 1425 subjects, 643 (45.1%) were female and 782 (54.9%) were male. Three months after mTBI, males had significantly lower odds of being in a higher PCS score category (odds ratio [OR] 0.62, 95% confidence interval [CI]: 0.50, 0.78); this association appeared to be more promin...

317 citations