Publications by authors named "Sumaira Khalil"

22 Publications

  • Page 1 of 1

Mortality in paediatric acute myeloid leukaemia.

J Pak Med Assoc 2020 Dec;70(12(B)):2316-2322

Department of Paediatric Oncology, Combined Military Hospital, Rawalpindi, Pakistan.

Objective: To analyse the common causes of death in paediatric acute myeloid leukaemia cases at a tertiary care facility.

Methodology: The retrospective study was conducted at the Paediatric Oncology Department of the Combined Military Hospital, Rawalpindi, Pakistan, and comprised newly-registered cases of acute myeloid leukaemia aged <18 years from January 1, 2012, onwards and who completed their treatment before January 31, 2019. Data was retrieved from medical records and was analysed using SPSS 23.

Results: Of the 206 cases, 130(63.1%) were males and 76(36.9%) were females. Overall mean age at diagnosis was 5.96±3.57 years (range: 9 months to 15 years). Of the total, 6(2.9%) patients died before the start of treatment. Of the remaining, 43(21.5%) patients died during 1st induction chemotherapy, and 16(8%) during the post-induction period, with overall treatment-related mortality being 65(31.5%). The main cause of death during the first two weeks of induction was infection, while infection followed by multi-organ failure was the main cause of mortality in the second phase. A total of 130(63%) patients completed the treatment. Overall survival was 81(62.3%) while disease-free survival was 77 (59.2%).

Conclusions: Overall treatment-related mortality rate in paediatric acute myeloid leukaemia cases was found to be high. Pregnancies achieved by IVF/ICSI, being complicated with severe OHSS could be related to gestational hypertension.
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http://dx.doi.org/10.5455/JPMA.549DOI Listing
December 2020

Impact of Malnutrition on Treatment Outcome of Paediatric Acute Myeloid Leukemia.

J Coll Physicians Surg Pak 2020 Oct;30(10):1021-1025

Department of Paediatric Oncology, Combined Military Hospital, Rawalpindi, Pakistan.

Objective: To analyse the distribution of malnutrition in paediatric acute myeloid leukaemia (AML) and its effect on treatment outcome and survival in Pakistani children.

Study Design: Descriptive, analytical study.

Place And Duration Of Study: Department of Paediatric Oncology, Combined Military Hospital (CMH), Rawalpindi, Pakistan from January 2012 to January 2019.

Methodology: Data of all newly registered cases of paediatric AML was analysed to see the association of nutritional status according to Z-score classification and treatment outcome. The outcome was divided into disease-free and overall survival.

Results: A total of 206 cases, including 130 (63.1%) boys and 76 (36.9%) girls were evaluated. The mean age at diagnosis was 5.96 ± 3.58 years. Pallor was the most common clinical feature in 172 (83.5%) followed by fever in 158 (76.7%) cases. AML M-2 was the most frequent French-American-British (FAB) subtype in 94 (45.6%) cases. Majority of the patients (n = 128, 62.1%) were well nourished; and 46 (22.3%) and 32 (15.5%) were moderately and severely malnourished, respectively. Disease-free survival (DFS) was 43.0%, 32.6% and 21.9% in well nourished, moderately malnourished and severely malnourished patients, respectively (p=0.022). Overall survival (OS) was 43.8%, 39.1% and 21.9% in well nourished, moderately malnourished and severely malnourished patients, respectively (p=0.012).

Conclusion: Malnutrition adversely affects the treatment outcome in paediatric AML. It is significantly associated with increased treatment-related mortality, mainly due to infection and decreased disease-free and overall survival. Key Words: Paediatric acute myeloid leukaemia, Mortality, Nutritional status, Weight-for-age, Z score, Pakistan.
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http://dx.doi.org/10.29271/jcpsp.2020.10.1021DOI Listing
October 2020

Prognostic Factors in Childhood Acute Myeloid Leukemia; Experience from A Developing Country.

Cancer Rep (Hoboken) 2020 Oct 9;3(5):e1259. Epub 2020 Jul 9.

Department of Community medicine, National University of Medical Sciences, Rawalpindi, Pakistan.

Background: In the developed world, 5-years survival of childhood acute myeloid leukaemia (AML) has improved to 70%. However, the survival rates in the developing world are below 40%. The main contributing factors to these reduced survival rates are a late presentation, malnutrition and high treatment-related mortality.

Aim: To document the factors affecting treatment outcome of childhood AML at a tertiary care facility of Pakistan.

Methods And Results: All newly registered cases of AML under 18 years of age from January 1, 2012 onwards who completed their treatment before November 30, 2019 were included. Data of 219 cases of AML containing 140 (63.9%) males and 79 (36.1%) females was analyzed. The mean age was 6.30 ± 3.66 years. Pallor was the commonest presenting features in 180 (82.2%) and M2 was the commonest French American-British (FAB) subtype in 103 (47.0%) cases. In univariate analysis, high white blood cells (WBC) count at presentation (P = .006), poor nutritional status (P = .005), unfavourable cytogenetics (P = .019), certain types of FAB AML subtype (P = .005), and use of etoposide in induction chemotherapy (P = .042) significantly adversely affected overall survival (OS). Neutropenic sepsis and bleeding were the major causes of treatment-related mortality. Response to induction chemotherapy was the most significant prognostic factor in the multivariate analysis (P = <.001). After a median follow-up of 40.96 ± 26.23 months, 5-year OS and DFS of the cohort were 40.6% and 38.3% respectively.

Conclusions: In this largest cohort of childhood AML from Pakistan, high WBC count at presentation, malnutrition, unfavourable cytogenetics and use of etoposide during induction chemotherapy were associated with decreased OS and DFS rates. Response to the induction chemotherapy was the most significant prognostic factor.
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http://dx.doi.org/10.1002/cnr2.1259DOI Listing
October 2020

Inflammatory Myofibroblastic Tumor: A Rare Presentation and an Effective Treatment with Crizotinib.

Case Rep Oncol Med 2020 9;2020:6923103. Epub 2020 Jul 9.

Medical Student at Army Medical College, Rawalpindi, Pakistan.

Inflammatory myofibroblastic tumor (IMT) is a rare entity of neoplastic origin. It usually occurs in children and adolescents and most commonly involves pulmonary and gastrointestinal sites. Here, the authors present two cases; one is the nine months old boy with a subcutaneous IMT in the left temporal region that was treated successfully with surgical resection. To the best of our knowledge, this is the first reported case of a subcutaneous IMT in this particular region. The second is an eight years old girl with an IMT of the right hemi-pelvis. The mass had complete surgical excision with clear margins and no residual disease. She was kept on regular follow-up with ultrasound abdomen. However, her disease relapsed with the appearance of lesions in right iliac fossa, right ovary, and liver. Biopsy of the relapsed abdominal mass confirmed ALK-positive IMT. She was treated with ALK inhibitor Crizotinib. She was monitored with regular blood complete picture, hepatic and renal function test, and ultrasound abdomen. Her lesions started regressing within one month, and she achieved complete remission after 6 months of treatment.
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http://dx.doi.org/10.1155/2020/6923103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7368202PMC
July 2020

Cytogenetic Abnormalities and Their Impact on Treatment Outcome in Paediatric Acute Myeloid Leukaemia in Pakistan.

J Coll Physicians Surg Pak 2020 Apr;30(4):379-384

Department of Paediatric Oncology, Combined Military Hospital, Rawalpindi, Pakistan.

Objective: To determine the impact of cytogenetic abnormalities on the treatment outcome of paediatric acute myeloid leukaemia (AML) at a tertiary care facility of Pakistan.

Study Design: Retrospective Observational study.

Place And Duration Of Study: Paediatric Oncology Ward, Combined Military Hospital, Rawalpindi, from January 2012 to September 2019.

Methodology: All registered cases of AML under 18 years of age, admitted to paediatric oncology ward in Combined Military Hospital, Rawalpindi, who had completed their treatment before 30th September 2019 were included. Their demographic and clinical data including WBC counts, immunophenotyping, cytogenetic abnormalities and impact of cytogenetics on disease outcome was assessed. Data was analysed for descriptive statistics and association of proportions.

Results: Data of 138 cases of de novo AML including 90 (65.2%) males and 48 (34.8%) females were analysed. The mean age was 6.37 ±3.51 years. Initial WBC of more than 50x109/L was seen in 43 (31.2%) patients. The most common FAB subtype was M-2 in 74 (53.6%), followed by M-4 in 20 (14.5%) cases. The majority of cases 81 (58.7%) had normal cytogenetics followed by 42 (30.4%) favourable and 15 (10.8%) unfavourable abnormalities. Five-year overall survival was 82.4%, 56.5% and 55.6% for favourable, intermediate and unfavourable risk cytogenetics, respectively (p=0.039). Disease-free survival was 82.4%, 51.6% and 44.4% for favourable, intermediate and unfavourable risk cytogenetics (p=0.008).

Conclusions: Identification of cytogenetic aberrations at diagnosis will help in risk stratification and predicting prognosis in AML. This will further assist in improving treatment strategies for different cytogenetic risk groups. Key Words: Paediatric acute myeloid leukaemia, Cytogenetics, Treatment outcome.
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http://dx.doi.org/10.29271/jcpsp.2020.04.379DOI Listing
April 2020

Optimum Induction Chemotherapy for Pediatric Acute Myeloid Leukemia: Experience From A Developing Country.

J Pediatr Pharmacol Ther 2020 ;25(4):288-294

Objectives: Treatment outcome in children with acute myeloid leukemia (AML) has improved in the developed world but remains poor in developing countries. We assessed the role of etoposide in induction chemotherapy in pediatric AML.

Methods: This analysis retrospectively compared 2 induction chemotherapy regimens consisting of daunorubicin and cytarabine with etoposide (ADE) and without etoposide (AD). All newly diagnosed cases of AML younger than 18 years from January 1, 2012, onwards who completed their treatment before January 31, 2019, were included. Data of 186 cases, including 117 males (62.9%) and 69 females (37.1%), were analyzed. Demographic, initial presentation blood counts, and AML subtypes were almost identical in both groups.

Results: Complete remission rates were almost identical for the ADE versus the AD group (78.8% vs 80.0%, p = 0.980). Treatment-related mortality was higher, albeit not significantly, in the ADE (25 of 105; 23.8%) versus the AD (16 of 81; 19.8%) group (p = 0.508). Overall survival was 32 of 105 (30.5%) in the ADE and 43 of 81 (53.1%) in the AD group (p = 0.079), and disease-free survival was 29 of 105 (27.6%) and 39 of 81 (48.1%) in ADE and AD groups (p = 0.056), respectively.

Conclusions: Etoposide in induction treatment of pediatric AML is associated with increased episodes of bacterial and fungal infections and high treatment-related mortality. Moreover, it does not offer any survival benefit. In low- and middle-income countries like Pakistan, it should not be used in the induction treatment protocol.
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http://dx.doi.org/10.5863/1551-6776-25.4.288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243905PMC
January 2020

Predictors of treatment outcome of Wilms Tumour in low-income country; single centre experience from Pakistan.

J Pediatr Urol 2020 06 26;16(3):375.e1-375.e7. Epub 2020 Mar 26.

Department of Pediatric Oncology, Combined Military Hospital, Rawalpindi, Pakistan.

Background: Wilms tumor (WT) represents around 85% of pediatric renal tumors. In high-income countries, 5-years survival of WT is above 90% but survival in developing countries is inferior.

Objective: To identify the predictors of treatment outcome of WT in a developing country.

Methods: A retrospective study conducted at the pediatric oncology department, Combined Military Hospital Rawalpindi, Pakistan. All newly diagnosed WT cases from 1st January 2012 who completed their treatment before 31st August 2019 were evaluated. Treatment was based on SIOP Wilms Tumour 2001/UK version 5. Patients presenting before nephrectomy received pre-operative chemotherapy. The postoperative chemotherapy regimen was decided according to the stage, risk stratification and metastatic status of the patient.

Results: Data of 84 cases, including 40 (47.6%) males and 44 (52.4%) females was analyzed. The mean diagnostic age was 38.87 ± 28.66 months and 68 (81%) cases were less than five years of age. The commonest presenting features were abdominal mass in 75 (89.3%) cases. The right kidney was affected in 43 (51.2%) cases. Stage I disease was documented in 27 (32.1%) cases, stage II in 25 (29.8%), stage III in 13 (15.5%), and stage IV in 17 (20.2%) cases. In univariate analysis, advanced stage (P = < 0.001) and metastatic disease (P=< 0.001) adversely affected the treatment outcome. Multivariate analysis demonstrated that advanced stage WT was associated with the worst outcome (P= < 0.05). Four (4.8%) cases had treatment-related mortality (TRM). With a median follow-up time of 28.26 ± 23.03 months, OS and EFS were 66 (78.6%) and 63 (75.0%) respectively.

Discussion: Delayed presentation with advanced-stage metastatic disease is quite common in the developing courtiers and is the major contributor to decreased EFS and OS. In the present study, 20.2% cases had metastatic disease, which is similar to reported from other developing countries. OS decreased from 92.6% in stage I to 47.1% in stage IV disease (P=< 0.001) and EFS decreased from 92.6% in stage I to 43.8% in stage IV disease (P=< 0.001). Very similar results are reported by a regional study [17]. Results in stage I and II disease are comparable to documented in the western world and inferior in advanced-stage disease. The strength of the present study is that multiple factors, affecting the treatment outcome of WT over almost seven years period were evaluated.

Conclusions: Stage of the disease is the most important prognostic factor. Delayed presentation with metastatic disease has a poor outcome.
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http://dx.doi.org/10.1016/j.jpurol.2020.03.001DOI Listing
June 2020

Use of Mobile Phones to Aid Learning in Medical Undergraduates.

Authors:
Sumaira Khalil

Indian Pediatr 2020 03;57(3):273

Department of Pediatrics, VMMC and Safdarjang Hospital, New Delhi, India.

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March 2020

Indian Academy of Pediatrics Guidelines on the Fast and Junk Foods, Sugar Sweetened Beverages, Fruit Juices, and Energy Drinks.

Indian Pediatr 2019 10 10;56(10):849-863. Epub 2019 Aug 10.

Department of Pediatrics and Clinical Epidemiology, Sitaram Bhartia Institute of Sciences and Research, New Delhi.

Justification: In view of easy availability and increasing trend of consumption of fast foods and sugar sweetened beverages (fruit juices and drinks, carbonated drinks, energy drinks) in Indian children, and their association with increasing obesity and related non-communicable diseases, there is a need to develop guidelines related to consumption of foods and drinks that have the potential to increase this problem in children and adolescents.

Objectives: To review the evidence and formulate consensus statements related to terminology, magnitude of problem and possible ill effects of junk foods, fast foods, sugar-sweetened beverages and carbonated drinks; and to formulate recommendations for limiting consumption of these foods and beverages in Indian children and adolescents.

Process: A National Consultative group constituted by the Nutrition Chapter of the Indian Academy of Pediatrics (IAP), consisting of various stakeholders in private and public sector, reviewed the literature and existing guidelines and policy regulations. Detailed review of literature was circulated to the members, and the Group met on 11th March 2019 at New Delhi for a day-long deliberation on framing the guidelines. The consensus statements and recommendations formulated by the Group were circulated to the participants and a consensus document was finalized.

Conclusions: The Group suggests a new acronym 'JUNCS' foods, to cover a wide variety of concepts related to unhealthy foods (Junk foods, Ultra-processed foods, Nutritionally inappropriate foods, Caffeinated/colored/carbonated foods/beverages, and Sugar-sweetened beverages). The Group concludes that consumption of these foods and beverages is associated with higher free sugar and energy intake; and is associated with higher body mass index (and possibly with adverse cardiometabolic consequences) in children and adolescents. Intake of caffeinated drinks may be associated with cardiac and sleep disturbances. The Group recommends avoiding consumption of the JUNCS by all children and adolescents as far as possible and limit their consumption to not more than one serving per week. The Group recommends intake of regional and seasonal whole fruits over fruit juices in children and adolescents, and advises no fruit juices/drinks to infants and young children (age <2y), whereas for children aged 2-5 y and >5-18 y, their intake should be limited to 125 mL/day and 250mL/day, respectively. The Group recommends that caffeinated energy drinks should not be consumed by children and adolescents. The Group supports recommendations of ban on sale of JUNCS foods in school canteens and in near vicinity, and suggests efforts to ensure availability and affordability of healthy snacks and foods. The Group supports traffic light coding of food available in school canteens and recommends legal ban of screen/print/digital advertisements of all the JUNCS foods for channels/magazines/websites/social media catering to children and adolescents. The Group further suggests communication, marketing and policy/taxation strategies to promote consumption of healthy foods, and limit availability and consumption of the JUNCS foods.
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October 2019

Blowing Your Own Trumpet: How to Increase the Online Visibility of Your Publication?

Indian Pediatr 2018 01;55(1):49-54

Department of Commerce, Christ University, Bengaluru, Karnataka, India.

After seeing one's manuscript in the print form in a journal, the author feels a sense of elation which is indescribable. However, if one really want peers and other researchers to take note of the work, some more effort is needed. With the massive increase in the number of biomedical journals in print - supplemented by another large chunk online - quite a few published papers remain unread by majority of the readers. The availability of social sites, persistent identifiers, and manuscript-sharing sites has simplified the job of increasing the impact of an article. We herein share some of these tricks-of-the-trade.
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January 2018

Factors Affecting Subsequent Full-text Publication of Papers Presented at the Annual Conference of the Indian Academy of Pediatrics.

Indian Pediatr 2017 Feb;54(2):128-131

Departments of Pediatrics; Maulana Azad Medical College, *ESI Hospital and Medical College, Basai Darapur, and #Lady Harding Medical College; New Delhi, India. Correspondence to: Dr Ruchi Mishra, Specialist, Department of Pediatrics, ESI Hospital and Medical College, Basai Darapur, Delhi, India.

Objective: To study the factors associated with the subsequent (over next 9 years) full-text publication of papers presented at the 44th National Conference of Indian Academy of Pediatrics (PEDICON), 2007.

Methods: All papers presented at PEDICON 2007 were searched for subsequent full-text publication over the next 9 years in English-language journals by an internet-based search. The published papers were compared with the conference-abstracts.

Results: 74 (16%) of the 450 abstracts presented were subsequently published; 61 (82.4%) in Medline-indexed journals. Majority (50, 67.6%) of the papers was published within the first 36 mo in journals with mean (SD) impact factor of 2.62 (1.63). The factors significantly associated with subsequent publication were papers presented as award papers (P<0.001), those reporting on Interventional trials (P<0.001), and those from medical colleges (P<0.05). On comparison of the conference abstracts with the subsequently published full-papers, 55% had a change in title; authors were changed in 65%, and participants' numbers were dissimilar in 8.6%.

Conclusion: There is a need to identify the factors responsible for this low rate of subsequent publication, and interventions to improve it both at institutional and researchers' level.
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http://dx.doi.org/10.1007/s13312-017-1015-4DOI Listing
February 2017

Implementation of a Mini-Clinical Evaluation Exercise (Mini-CEX) Program to Assess the Clinical Competence of Postgraduate Trainees in Pediatrics.

Indian Pediatr 2017 Apr 2;54(4):284-287. Epub 2017 Feb 2.

Departments of *Pediatrics and #Medical Education, Maulana Azad Medical College, New Delhi, India. Correspondence to: Dr Devendra Mishra, Department of Pediatrics, Maulana Azad Medical College, Delhi 110002. India.

Objective: To implement Mini-CEX, a Workplace-based assessment tool, for formative assessment of clinical skills of final year pediatric post-graduate residents.

Methods: All final-year postgraduate residents at the Department of Pediatrics of a public medical college in India underwent mini-CEX assessment by rotation among six faculty members. Outcome was assessed by an anonymous questionnaire-based feedback from the participating students and faculty members, collected after the completion of all the mini-CEX encounters.

Results: 20 final year postgraduate students (12 males, 15 MD and 5 DCH) were assessed. Data gathering (68.7%) and counseling (63.3%) were the most common areas assessed. 84% and 58% of the students and faculty, respectively were satisfied with their Mini-CEX encounter (score > 8 on a 10-point Likert scale). 90% of the participating students felt that Mini-CEX should be included as a routine in postgraduate teaching. All six faculty thought they had a good experience, but 50% were unsure whether it was a valid method of assessment.

Conclusion: The involved faculty and residents had high satisfaction levels with mini-CEX evaluation. Mini-CEX has a potential to be incorporated in the formative evaluation of postgraduate pediatric students as part of the workplace-based assessment.
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http://dx.doi.org/10.1007/s13312-017-1089-zDOI Listing
April 2017

Sharing Clinical Experience with the Scientific Community: How to Write a Case Report?

Indian Pediatr 2016 Jun;53(6):513-6

Department of Pediatrics, Maulana Azad Medical College, New Delhi, India. Correspondence to: Dr Devendra Mishra, Professor, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-016-0881-5DOI Listing
June 2016

Evaluation of the impact of celiac disease and its dietary manipulation on children and their caregivers.

Indian J Gastroenterol 2015 Mar 9;34(2):112-6. Epub 2015 May 9.

Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Associated Lok Nayak Hospital, Bahadur Shah Zafar Marg, New Delhi, 110 002, India.

Background: Lifelong dietary abstinence of gluten is the only treatment available for celiac disease. This is not only challenging but also leads to several psychosocial morbidities and affects the quality of life of children and their parents.

Methods: An observational study was conducted on 50 children (5-18 years) diagnosed with celiac disease on gluten-free diet for at least 6 months and their parents to evaluate of the impact of celiac disease and its dietary manipulation on them. The quality of life was assessed by applying celiac disease-specific questionnaire. Dietary compliant and noncompliant groups were compared to assess the factors leading to poor compliance. Anthropometric parameters were utilized to ascertain clinical response.

Results: Fifty children with a mean age of 9.06 years were enrolled. Seventy-four percent of the children were compliant. In the compliant group, height and weight correlated with dietary compliance (p = 0.0087 and p = 0.023). Dietary compliance was found to be better in adolescent males and single child and those living in nuclear families. Quality of life was found to be higher among parents of noncompliant children (quality of life score: 63) as compared to the compliant children (quality of life score: 59). The acceptance of celiac disease was better among children whose parents had a higher level of education. The scale diet proved to be a useful indicator for evaluating compliance among children (p = 0.0036).

Conclusions: Noncompliance to gluten-free diet was noted in 24 % of children with celiac disease.
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http://dx.doi.org/10.1007/s12664-015-0563-6DOI Listing
March 2015

Electrical injuries in urban children in New Delhi.

Pediatr Emerg Care 2013 Mar;29(3):342-5

Department of Plastic Surgery, University College of Medical Sciences, Associated Guru Teg Bahadur Hospital, India.

Aim: The objective of this study was to analyze the epidemiology, presentation, management, and complications of electrical burn injuries in urban children.

Methods: Data from records and clinical data were collected retrospectively and prospectively during 2008 to 2010.

Results: Of 41 children enrolled, the mean age of children enrolled was 8.1 ± 4.5 years. Low-voltage injury was seen in 28 (68.2%), and 13 (31.8%) had high-voltage injuries. Low-voltage injuries were most commonly (52.45%) secondary to direct contact with live wire, whereas high-voltage injuries in 70% were due to direct contact with broken wires lying in fields/rooftops. Fourteen children of the 41 enrolled had associated injuries. Low-voltage injuries were associated with minor burns, seizures, tibial fracture, eyelid burn, scalp hematoma, and speech and visual impairment, whereas high-voltage injuries were associated with cardiac arrest, extradural hematoma, visceral burns, pulmonary hemorrhage and hypoxic encephalopathy, and postelectrocution acute respiratory distress syndrome. Surgical interventions done included split-thickness skin grafting, fasciotomy, and amputation procedures. The mean duration of hospital stay of all the children enrolled was 9.02 days with 35 children discharged, 71.4% of them having low-voltage injuries. Four children died, 75% of them having high-voltage injury, whereas 2 children left without medical advice, both having low-voltage injuries.

Conclusions: Children are a major group susceptible to electrical injuries in our country. Most of the mechanisms leading to them are easily preventable, but occur because of lack or awareness among the children and their guardians. Burn prevention program should be implemented incorporating these epidemiological data.
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http://dx.doi.org/10.1097/PEC.0b013e3182852f71DOI Listing
March 2013

Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.

Eur J Pediatr 2013 Aug 19;172(8):1131-5. Epub 2013 Jan 19.

Department of Pediatrics, PGIMER and Associated RML Hospital, New Delhi 110001, India.

The Greig cephalopolysyndactyly syndrome (GCPS) is a rare, autosomal dominant, pleiotropic, multiple congenital anomaly syndrome. The typical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. We present two families, with GCPS with a non-syndromic phenotype, without the characteristic craniofacial anomalies and with the presence of complex digital anomalies including various types of polydactyly and syndactyly of the fingers and toes. The cases were proven to be GCPS by mutational analysis of GL13 gene. Our patients support the fact that the phenotypic spectrum of GL13 mutations is broader than that encompassed by the usual clinical diagnostic criteria. Individuals with features of familial polysyndactyly should be screened for mutations in GL13 even if they do not fulfill clinical criteria.
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http://dx.doi.org/10.1007/s00431-013-1938-2DOI Listing
August 2013

Prevalence and outcome of hepatobiliary dysfunction in neonatal septicaemia.

J Pediatr Gastroenterol Nutr 2012 Feb;54(2):218-22

Department of Paediatrics, University College of Medical Sciences, University of Delhi and GTB Hospital, Delhi, India.

Background: Cholestatic jaundice and liver enzyme abnormalities have been reported in neonatal septicaemia; the course, pattern, and outcome of such hepatobiliary dysfunction have not been described.

Methods: One hundred fifty-three neonates with blood culture-positive sepsis were recruited from the neonatal intensive care unit of an urban hospital. Liver function tests were done on day 3 and day 10 in all of the cases. In babies with abnormal results (direct bilirubin >20% of total with a minimum level of 2/dL or alanine aminotransferase [ALT] >50  U/L), tests were repeated weekly for 1 month and then fortnightly for 3 months or until normalization of values. Anthropometry was recorded at all of these visits.

Results: Klebsiella pneumoniae was the commonest organism, isolated in 95.4% of subjects. Eighty-three (54.2%) subjects had hepatobiliary dysfunction in the form of either cholestatic jaundice (n = 65 [42.5%]) or derangement in ALT (n = 57 [37.3%]). The onset of cholestasis was seen by day 3 of sepsis in 80% (n = 52), with maximum value of direct bilirubin seen by the 10th day in 90% (n = 58). Only 15% (n = 10) continued to have cholestatic jaundice beyond 30 days of onset of sepsis, and it resolved by 60 days. Hepatic enzyme abnormalities followed a more protracted course: onset by day 10 in 95%, peak value by day 38 in 90%, and normalisation by 60 days in 82% of subjects. The prevalence of any hepatobiliary dysfunction was found less frequently in babies who died as compared with survivors (43.4% vs 56.7%; P < 0.01). The weight, length, and head circumference during follow-up visits were comparable between neonates with or without hepatobiliary dysfunction.

Conclusions: Hepatobiliary dysfunction is common in Gram-negative neonatal septicaemia. The onset of abnormalities is early in most cases but ultimately resolve within 2 to 3 months after sepsis. The presence of conjugated hyperbilirubinemia in neonatal sepsis may carry a better prognosis in terms of survival and has no significant effect on growth during early infancy.
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http://dx.doi.org/10.1097/MPG.0b013e318233d33dDOI Listing
February 2012

Unusual renal manifestations in a girl with hyperthyroidism.

Indian J Pediatr 2012 Feb 27;79(2):260-1. Epub 2011 May 27.

Department of Pediatrics, PGIMER, Dr RML Hospital, New Delhi 110001, India.

A 16-year-girl, a known case of hyperthyroidism since last 6 months, presented to the emergency with complaints of acute gastroenteritis of 5 days duration. At admission the child was found to be hypovolemic with acidotic breathing, which was thought to be due to dehydration. However, despite fluid correction she remained acidotic. A diagnosis of distal renal tubular acidosis (RTA) was suspected when her renal scan, for the cause of metabolic acidosis, revealed nephrocalcinosis. This was later confirmed by relevant investigations. She was started on treatment for distal RTA on which she symptomatically improved. The association of distal RTA and thyroid disorders is rarely reported in children. Till date there is only one report of distal RTA and hypothyroidism, but none with hyperthyroidism in this age group. The authors chose to report this case to highlight the fact that one should have a high index of suspicion for renal tubular disorders in children with thyroid hormone abnormalities, as these are treatable conditions if diagnosed early.
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http://dx.doi.org/10.1007/s12098-011-0482-1DOI Listing
February 2012

Short-term outcomes of acute fulminant myocarditis in children.

Pediatr Cardiol 2011 Oct 17;32(7):885-90. Epub 2011 May 17.

Department of Pediatrics, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi, India.

Data on the clinical profile, echocardiographic findings, and outcome of acute fulminant myocarditis (AFM) in children from resource limited countries are limited. To study the clinical profile and short-term outcomes of children aged 2 months to 17 years with AFM managed with only supportive care. We enrolled all children admitted with AFM in our hospital from January 2009 to October 2010. Although the information on patients admitted from January 2009 to March 2010 were retrieved from the case records, data of children admitted from April 2010 were recorded prospectively. AFM was diagnosed based on clinical and echocardiographic criteria. We collected information regarding clinical course, treatment details, and echocardiography findings using a structured performa. All of the children, including those for whom baseline information was collected from the records, were followed-up prospectively to determine short-term outcomes. A total of 10 children, of whom 6 were male, presented with AFM. Their median age was 7.5 (interquartile range [IQR] 2 to 13) years, and the mean left-ventricular ejection fraction (LVEF) was 26% (SD 11.5). Of the 10 children, 9 were discharged, and 1 child died. At discharge, all children showed improvement in the symptoms, but only 4 had improvement in LV function on echocardiography. Factors associated with poor recovery of LV function at discharge were anasarca, low LVEF, and increased serum glutamate pyruvate transaminase levels at admission. One child had died at 2-month follow-up, and another child developed dilated cardiomyopathy at 15 months after discharge. Children with AFM had good immediate- and short-term outcomes even without the use of mechanical assist devices. Decreased LVEF at admission was found to be one of the most important determinants of poor immediate outcomes in these children.
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http://dx.doi.org/10.1007/s00246-011-0007-8DOI Listing
October 2011

Homocysteine, fibrinogen and lipid profile in children of young adults with coronary artery disease.

Indian Pediatr 2011 Feb;48(2):156-7

Department of Pediatrics and Biochemistry, Maulana Azad Medical College and GB Pant Hospital, New Delhi, India.

Plasma homocysteine (9.05 ± 4.78 vs 5.93 ± 1.46 umol/L, P<0.01), plasma fibrinogen (313.76 ± 80.02 vs 275.47 ± 53.77 mg/dL, P<0.01), serum total cholesterol (171.64 ± 35.48 vs 152.62 ± 25.40 mg/dL, P<0.01), serum LDL cholesterol (109.51 ± 36.93 vs 87.6 ± 21.6 mg/dL, P<0.01) and fasting blood sugar (99.89 ± 7.46 vs 90.29 ± 9.85 mg/dL, ;were significantly higher in children (n=45) of young adults (<45 y) with coronary artery disease as compared to control group (n=45). No significant correlation was found for plasma homocysteine level of children with that of their parents in either group, whereas significant correlation was found for plasma fibrinogen of children with their parents in both the groups.
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February 2011

Amniotic band syndrome.

Indian J Pediatr 2008 Jul 21;75(7):754. Epub 2008 Aug 21.

Department of Paediatrics, University College of Medical Sciences and GTB Hospital, Delhi, India.

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http://dx.doi.org/10.1007/s12098-008-0144-0DOI Listing
July 2008