This page has only limited features, please log in for full access.
Autoimmune enteropathy (AIE) is a complex disease affecting both children and adults. Although associated with significant morbidity and mortality, the pathophysiology of the disease and its treatment have not been well characterized. This study aims to review the medical literature available on this rare but clinically significant ailment, to help establish a better understanding of its pathophysiology and enumerate the available diagnostic and treatment modalities. A literature search was conducted on PubMed using key terms related to autoimmune enteropathy and intractable diarrhea, with no restrictions on the date of publication or language. We found a total of 98 reports of AIE published in the form of case reports and case series. The evidence reviewed suggests that AIE is a multifaceted disorder that requires a high index of suspicion in the appropriate clinical setting to be able to make an early diagnosis. Current evidence supports the use of supportive care to correct nutritional and metabolic deficiencies, and immunosuppressives and immunomodulators as directed therapies. Hematopoietic stem cell transplant is an aggressive, but successful curative modality for patients with AIE as part of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Cumulative clinical experience with management of AIE has allowed improved outcomes in transplanted and non-transplanted AIE patients even though morbidity and mortality with are still high in patients with this condition. More research is needed to further define the role of new therapies for AIE, and a central registry with participation of multiple institutions might help share and standardize care of patients with this rare but serious condition.
Zunirah Ahmed; Aamer Imdad; James A. Connelly; Sari Acra. Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy. Digestive Diseases and Sciences 2018, 64, 643 -654.
AMA StyleZunirah Ahmed, Aamer Imdad, James A. Connelly, Sari Acra. Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy. Digestive Diseases and Sciences. 2018; 64 (3):643-654.
Chicago/Turabian StyleZunirah Ahmed; Aamer Imdad; James A. Connelly; Sari Acra. 2018. "Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy." Digestive Diseases and Sciences 64, no. 3: 643-654.
Resting metabolic rates (RMR) vary across individuals. Understanding the determinants of RMR could provide biological insight into obesity and its metabolic consequences such as type 2 diabetes and cardiovascular diseases. The present study measured RMR using reference standard indirect calorimetry and evaluated genetic variations from an exome array in a sample of children and adults (N = 262) predominantly of African and European ancestry with a wide range of ages (10 - 67 years old) and body mass indices (BMI; 16.9 - 56.3 kg/m2 for adults, 15.1 - 40.6 kg/m2 for children). Single variant analysis for RMR identified suggestive loci on chromosomes 15 (rs74010762, TRPM1, p-value = 2.7 × 10-6), 1 (rs2358728 and rs2358729, SH3D21, p-values < 5.8x10-5), 17 (AX-82990792, DHX33, 5.5 × 10-5) and 5 (rs115795863 and rs35433829, C5orf33 and RANBP3L, p-values < 8.2 × 10-5). To evaluate the effect of low frequency variations with RMR, we performed gene-based association tests. Our most significant locus was SH3D21 (p-value 2.01 × 10-4), which also contained suggestive results from single-variant analyses. A further investigation of all variants within the reported genes for all obesity-related loci from the GWAS catalog found nominal evidence for association of body mass index (BMI- kg/m2)-associated loci with RMR, with the most significant p-value at rs35433754 (TNKS, p-value = 0.0017). These nominal associations were robust to adjustment for BMI. The most significant variants were also evaluated using phenome-wide association to evaluate pleiotropy, and genetically predicted gene expression using the summary statistics implicated loci related to in obesity and body composition. These results merit further examination in larger cohorts of children and adults.
Jacklyn N. Hellwege; Digna R. Velez Edwards; Sari Acra; Kong Chen; Maciej S. Buchowski; Todd L. Edwards. Association of gene coding variation and resting metabolic rate in a multi-ethnic sample of children and adults. BMC Obesity 2017, 4, 12 .
AMA StyleJacklyn N. Hellwege, Digna R. Velez Edwards, Sari Acra, Kong Chen, Maciej S. Buchowski, Todd L. Edwards. Association of gene coding variation and resting metabolic rate in a multi-ethnic sample of children and adults. BMC Obesity. 2017; 4 (1):12.
Chicago/Turabian StyleJacklyn N. Hellwege; Digna R. Velez Edwards; Sari Acra; Kong Chen; Maciej S. Buchowski; Todd L. Edwards. 2017. "Association of gene coding variation and resting metabolic rate in a multi-ethnic sample of children and adults." BMC Obesity 4, no. 1: 12.
Note: In lieu of an abstract, this is an excerpt from the first page. I am very excited about the upcoming launch of Children, a journal dedicated to the streamlined yet scientifically rigorous electronic dissemination of peer-reviewed science related to childhood health and disease in developed and developing countries. The future of our world depends on the health and well-being of all its children. Thus, the global health issues facing children today will determine medical history. Unfortunately, as the world becomes more of a global information village in many respects, there have remained impediments to eliminating regional disparities in sharing health information, be it in the fields of infectious diseases, nutrition or cancer risks, to name but a few. It is my hope that Children will be a forum for sharing information, and engaging in discussions and dialogue relevant to the care of children, unimpeded by limitations imposed by traditional print media. We also hope to dedicate entire issues to timely and relevant single-topic publications.
Sari Acra. Welcome to Children — A New Open Access Journal Dedicated to Sharing Medical Research Relevant to Children’s Health. Children 2013, 1, 1 -2.
AMA StyleSari Acra. Welcome to Children — A New Open Access Journal Dedicated to Sharing Medical Research Relevant to Children’s Health. Children. 2013; 1 (1):1-2.
Chicago/Turabian StyleSari Acra. 2013. "Welcome to Children — A New Open Access Journal Dedicated to Sharing Medical Research Relevant to Children’s Health." Children 1, no. 1: 1-2.
Because of the paucity of effective evidence-based therapies for children with recurrent abdominal pain, we evaluated the therapeutic effect of guided imagery, a well-studied self-regulation technique. 22 children, aged 5 – 18 years, were randomized to learn either breathing exercises alone or guided imagery with progressive muscle relaxation. Both groups had 4-weekly sessions with a therapist. Children reported the numbers of days with pain, the pain intensity, and missed activities due to abdominal pain using a daily pain diary collected at baseline and during the intervention. Monthly phone calls to the children reported the number of days with pain and the number of days of missed activities experienced during the month of and month following the intervention. Children with ≤ 4 days of pain/month and no missed activities due to pain were defined as being healed. Depression, anxiety, and somatization were measured in both children and parents at baseline. At baseline the children who received guided imagery had more days of pain during the preceding month (23 vs. 14 days, P = 0.04). There were no differences in the intensity of painful episodes or any baseline psychological factors between the two groups. Children who learned guided imagery with progressive muscle relaxation had significantly greater decrease in the number of days with pain than those learning breathing exercises alone after one (67% vs. 21%, P = 0.05), and two (82% vs. 45%, P < 0.01) months and significantly greater decrease in days with missed activities at one (85% vs. 15%, P = 0.02) and two (95% vs. 77%. P = 0.05) months. During the two months of follow-up, more children who had learned guided imagery met the threshold of ≤ 4 day of pain each month and no missed activities (RR = 7.3, 95%CI [1.1,48.6]) than children who learned only the breathing exercises. The therapeutic efficacy of guided imagery with progressive muscle relaxation found in this study is consistent with our present understanding of the pathophysiology of recurrent abdominal pain in children. Although unfamiliar to many pediatricians, guided imagery is a simple, noninvasive therapy with potential benefit for treating children with RAP.
Joy A Weydert; Daniel E Shapiro; Sari A Acra; Cynthia J Monheim; Andrea S Chambers; Thomas M Ball. Evaluation of guided imagery as treatment for recurrent abdominal pain in children: a randomized controlled trial. BMC Pediatrics 2006, 6, 29 -29.
AMA StyleJoy A Weydert, Daniel E Shapiro, Sari A Acra, Cynthia J Monheim, Andrea S Chambers, Thomas M Ball. Evaluation of guided imagery as treatment for recurrent abdominal pain in children: a randomized controlled trial. BMC Pediatrics. 2006; 6 (1):29-29.
Chicago/Turabian StyleJoy A Weydert; Daniel E Shapiro; Sari A Acra; Cynthia J Monheim; Andrea S Chambers; Thomas M Ball. 2006. "Evaluation of guided imagery as treatment for recurrent abdominal pain in children: a randomized controlled trial." BMC Pediatrics 6, no. 1: 29-29.
JPHP provides a medium for publication of scholarly articles on the epidemiologic and social foundations of public health policy; presents the results of research bearing on such policy; evaluates administrative experience in the implementation of specific public health policies and programs; and helps make more effective the services provided by health departments, other health agencies, and public health workers in protecting and improving the health of the public.
Sari A Acra. Impact of War on the Household Environment and Domestic Activities: Vital Lessons from the Civil War in Lebanon. Journal of Public Health Policy 2006, 27, 136 -145.
AMA StyleSari A Acra. Impact of War on the Household Environment and Domestic Activities: Vital Lessons from the Civil War in Lebanon. Journal of Public Health Policy. 2006; 27 (2):136-145.
Chicago/Turabian StyleSari A Acra. 2006. "Impact of War on the Household Environment and Domestic Activities: Vital Lessons from the Civil War in Lebanon." Journal of Public Health Policy 27, no. 2: 136-145.