Publications by authors named "A Aldrie Amir"

476 Publications

Xeroderma Pigmentosum Associated with Squamous and Basal Cell Carcinoma in Pakistan: A Case Series.

Adv Skin Wound Care 2021 Nov;34(11):608-612

At the National Institute of Health, Islamabad, Pakistan, Mumtaz Ali Khan, MD, MsPH, MS, MSc, MPH, is Senior Scientific Officer (Epidemiology), Nighat Akbar, MBBS, MRCP, is Senior Scientific Officer, Asim Saeed, MBBS, MPhil, is Microbiologist, Afreenish Amir, MBBS, MPhil, PhD, is Technical Officer AMR, and Aamer Ikram, MBBS, DCP, MCPS, FCPS, PhD, is Executive Director. Zikria Saleem, PharmD, MPhil, PhD, is Assistant Professor, Department of Pharmacy Practice, Faculty of Pharmacy, University of Lahore, Pakistan. The authors have disclosed no financial relationships related to this article. Submitted November 4, 2020; accepted in revised form January 7, 2021.

Abstract: Xeroderma pigmentosum (XP) is an autosomal recessive condition characterized by an extreme sensitivity to UV rays from sunlight. It presents clinically with progressive pigmentary abnormalities and an increased incidence of skin and mucous membrane cancers at sun-exposed sites. Parental consanguinity is a significant risk factor. Previously, cases of XP have been reported from various regions of Pakistan including Larkana, Sibbi, Karachi, Lahore, and District Dir in 1993, 2009, and 2010. Genetic studies have been conducted on seven consanguineous families with XP belonging to the Khosa tribe of Baloch ethnicity. In May 2018, XP was reported in four siblings in a family from a small village in Sindh Province, Pakistan. Current surveillance has been carried out in the tribal village of Lundi Khosa, District Kachhi at Baluchistan, Pakistan. The disease has been endemic in the tribe since 1986, although it was brought under control in the last few years. This case report describes five patients (aged 3-12 years) with XP who have developed nonmelanoma skin malignancies.
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http://dx.doi.org/10.1097/01.ASW.0000792924.09969.64DOI Listing
November 2021

Wastewater based environmental surveillance of toxigenic Vibrio cholerae in Pakistan.

PLoS One 2021 30;16(9):e0257414. Epub 2021 Sep 30.

Public Health Laboratories Division, Department of Microbiology, National Institute of Health, Islamabad, Pakistan.

Background: Pakistan has been experiencing intervals of sporadic cases and localized outbreaks in the last two decades. No proper study has been carried out in order to find out the environmental burden of toxigenic V. cholerae as well as how temporal and environmental factors associated in driving cholera across the country.

Methods: We tested waste water samples from designated national environment surveillance sites in Pakistan with RT-PCR assay. Multistage sampling technique were utilized for samples collection and for effective sample processing Bag-Mediated Filtration system, were employed. Results were analysed by district and month wise to understand the geographic distribution and identify the seasonal pattern of V. cholera detection in Pakistan.

Results: Between May 2019, and February 2020, we obtained and screened 160 samples in 12 districts across Pakistan. Out of 16 sentinel environmental surveillance sites, 15 sites showed positive results against cholera toxigenic gene with mostly lower CT value (mean, 34±2) and have significant difference (p < 0.05). The highest number of positive samples were collected from Sindh in month of November, then in June it is circulating in different districts of Pakistan including four Provinces respectively.

Conclusion: V. cholera detection do not follow a clear seasonal pattern. However, the poor sanitation problems or temperature and rainfall may potentially influence the frequency and duration of cholera across the country. Occurrence of toxigenic V. cholerae in the environment samples showed that cholera is endemic, which is an alarming for a potential future cholera outbreaks in the country.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0257414PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8483414PMC
September 2021

Elevated liver enzymes of newly diagnosed pediatric celiac patients-a prospective-observational study.

Eur J Pediatr 2021 Sep 29. Epub 2021 Sep 29.

The Pediatric Gastroenterology, Hepatology & Nutrition Clinic, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Celiac disease clinical presentation is constantly changing. We set to determine the prevalence of elevated transaminases in newly diagnosed celiac patients and to evaluate this sub-group of patients for associated clinical and laboratory findings and assess their natural course of disease following therapeutic diet initiation. We conducted a prospective-observational study of all newly diagnosed pediatric celiac patients, between August 2016 and April 2018, in a pediatric gastroenterology clinic. Clinical data, anthropometrics, and blood test results were recorded at diagnosis and at 3, 6, and 12 months, respectively, of follow-up. We compared patients with normal and elevated transaminases at diagnosis. ALT threshold was set at 24 U/l. Of 125 newly diagnosed celiac patients, 31 (24.8%) had elevated ALT at diagnosis; two (1.6%) with over 3 × ULN. Patients with elevated ALT at diagnosis were significantly younger (mean age 5.5 (SD 3.4) vs. 7.3 (SD 3.7) years, p < 0.01) and more commonly presented with diarrhea (32.3% vs. 14.9%, p = 0.03). Eighty percent of patients with elevated ALT levels normalized their ALT within 3 months and all within 1 year. Following gluten-free diet initiation, patients with elevated ALT had similar clinical course, growth, serology normalization rate, and laboratory results, compared to patients with normal ALT over a 1-year follow-up. A single patient was simultaneously co-diagnosed with celiac disease and autoimmune hepatitis.Conclusion: Clinically significant ALT abnormalities are rare among newly diagnosed pediatric celiac patients. Significant elevations failing to normalize on a gluten-free diet should raise concern of a concomitant primary liver disease and warrant further investigations. What is Known: • Elevated liver enzymes may be an extra-intestinal manifestation of celiac disease. • Reported prevalences of ALT elevations among children with a new diagnosis of celiac disease ranges between 5 and 40%. What is New: • ALT elevations are present in 25% of children with a new diagnosis of celiac disease. • Significant elevations (>3 × ULN) are rare (1.6%). • Elevated liver enzymes are associated with earlier age at diagnosis. • The natural history of patients with elevated liver enzymes at diagnosis is comparable to those without.
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http://dx.doi.org/10.1007/s00431-021-04259-wDOI Listing
September 2021

Increasing rate of a positive family history of inflammatory bowel disease (IBD) in pediatric IBD patients.

Eur J Pediatr 2021 Sep 26. Epub 2021 Sep 26.

Pediatric Gastroenterology Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, 6 Weizmann Street, 6423906, Tel Aviv, Israel.

The role of a positive family history in pediatric inflammatory bowel disease (IBD) in the era of biologic therapy has not been elucidated. We retrospectively reviewed the medical records of children with IBD and retrieved demographic and clinical characteristics, including the presence of a positive family history of IBD, IBD phenotype, disease course, and therapy. Overall, 325 children (age range at diagnosis 11-15 years) were included, of whom 82 (25.2%) had a positive family history. Children diagnosed during 2016-2020 had a higher frequency of positive family history compared to those diagnosed during 2010-2015 (31.8% versus 20.7%, respectively, p = 0.024). Children with a positive family history had a higher risk for a stricturing phenotype than those with a negative family history (11.3% versus 2.8%, respectively, p = 0.052). They more often received nutritional therapy (53.7% versus 36.6%, p = 0.007) and less often received corticosteroids (36.6% versus 52.7%, p = 0.012). More children with a negative family history needed intensification of biologic therapy (p = 0.041).Conclusion: The rate of a positive family history of IBD in the pediatric IBD population is increasing. A positive family history may have some impact upon IBD phenotype but none on IBD outcome. What is Known: •Familial clustering of inflammatory bowel disease (IBD) has been reported in 5%-15% of IBD patients. •The investigation of the impact of a positive family history upon IBD characteristics and severity revealed conflicting results. What is New: •In this cohort of 325 children with IBD, 25.2% had a positive family history. •The rate of a positive family history of IBD in the pediatric IBD population is increasing. •A positive family history may have some impact upon IBD phenotype but none on IBD outcome.
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http://dx.doi.org/10.1007/s00431-021-04269-8DOI Listing
September 2021

Higher BMI predicts liver fibrosis among obese children and adolescents with NAFLD - an interventional pilot study.

BMC Pediatr 2021 09 3;21(1):385. Epub 2021 Sep 3.

Department of Pediatrics, Dana Dwek Children`s Hospital, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Background: Non-alcoholic fatty liver disease (NAFLD) can range from simple steatosis to steatohepatitis with or without fibrosis. The predictors for liver fibrosis and the effect of nutritional intervention on hepatic fibrosis in pediatric population are not well established. We aimed to investigate the predictors for liver fibrosis and the effects of short-term nutritional intervention on steatosis and fibrosis among obese adolescents with NAFLD.

Methods: Cross-sectional study among obese adolescents. Sociodemographic and clinical data were collected. Liver fibrosis was estimated by Shearwave elastography. All participants were recommended to consume a low carbohydrate diet and were followed biweekly. Blood tests and elastography were performed upon admission and repeated after 3 months.

Results: Fifty-seven pediatric patients were recruited (35 males, mean age 13.5±2.9 years, mean body mass index [BMI] 38.8±9.7). Liver fibrosis was diagnosed in 34 (60%) subjects, which was moderate/severe (F≥2) in 24 (70%). A higher BMI Z score and moderate/severe steatosis correlated with moderate/severe fibrosis (P < 0.05). Seventeen patients completed 3 months of follow-up and displayed a decrease in BMI Z score (from BMI Z score 2.6±0.5 before intervention to 2.4±0.5 after intervention), with a significant decrease in liver fibrosis (P = 0.001).

Conclusion: Pediatric patients with high BMIs and severe liver steatosis are at risk for severe liver fibrosis. Nutritional intervention with minimal weight loss may improves hepatic fibrosis among the pediatric population.

Trial Registration: TRN NCT04561804 (9/17/2020).
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http://dx.doi.org/10.1186/s12887-021-02839-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414665PMC
September 2021
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