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Showing results for tags 'pediatric'.
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Celiac.com 04/26/2022 - Celiac disease research, diagnosis, support and treatment just got a big shot in the arm with the launch of Stanford's new Center for Pediatric Inflammatory Bowel Disease (IBD) and Celiac Disease. Made possible by a $70 million gift from an anonymous donor, the center aims to make a major contribution to improving the lives of young patients who suffer from inflammatory bowel and celiac disease. Because many kids with IBD and celiac disease need comprehensive and dedicated care to get the best results, the new center will unite expert clinicians, researchers, IBD and celiac disease nurses, dietitians, psychologists, and social workers, to offer world-class clinical care for kids with IBD and celiac disease. In addition, the center will provide treatment for Crohn’s disease, ulcerative colitis, indeterminate colitis and very-early-onset IBD. To meet the wide-ranging care needs of children across the spectrum of IBD and celiac disease severity, the center will work closely with top pediatric specialists in a number of areas, including advanced endoscopy, surgery, pain management, mental health, nutrition and integrative medicine at Stanford. Researchers and clinicians will work with Stanford Medicine scientists in microbiome science, human immunology, genetics, epithelial biology, biomedical engineering and data science to explore the origins of IBD and celiac disease in children, improve drugs, and help develop new treatments. One advantage of this approach is that the "collaboration with expert clinical immunologists and geneticists enables us to provide advanced diagnostic and treatment options to children with IBD and celiac disease disorders that do not respond to standard treatment,” said Center director, Dr. Michael J. Rosen. Dr. Rosen describes the center as the “...nation’s destination center for innovation in pediatric IBD and celiac disease care, as well as a major research hub for these conditions,” adding that the center's joint services "will give children from birth to age 22 the best chance to live full and productive lives,” Dr. Rosen said. In addition to being a pediatric gastroenterologist at Stanford Children’s Health, Dr. Rosen is also the Stanford University Endowed Professor for Pediatric IBD & Celiac Disease. Experts in the center will also work to speed up knowledge of these chronic diseases, collect and share data, and synchronize approaches to improve diagnosis and treatment. This collaborative approach can help the center to "personalize treatment, curate biospecimens and patient-reported outcomes data for the world’s investigators and develop clear guidance on which drugs are safest and most effective for each child,” adds Dr. Rosen. For more information, check the website for the Center for Pediatric IBD and Celiac Disease Read more at Stanford.edu -
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Celiac.com 07/29/2019 - Gluten and related prolamines trigger celiac disease in people who are genetically susceptible. The role of HLA-DQ genotypes is not well understood. A team of researchers recently set out to investigate the influence of HLA-DQ genotypes in clinical, serological and histological features related to celiac disease. The research team included Eva Martínez-Ojinaga, Marta Fernández-Prieto, Manuel Molina, Isabel Polanco, Elena Urcelay and Concepción Núñez. They are variously affiliated with the Servicio de Gastroenterología y Nutrición Pediátrica, Hospital Universitario La Paz in Madrid, Spain; and the Laboratorio de investigación en Genética de enfermedades complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC) in Madrid, Spain. The researchers conducted a retrospective observational study that included 463 Spanish patients with biopsy-proven celiac disease. The team collected clinical, serological, histological and HLA-DQ genetic data from each patient. They considered each patient's family history of celiac disease. They analyzed the data using chi-square tests or the Fisher’s exact test, along with multivariate logistic regression (after adjusting for age and sex) to assess the association between clinical and laboratory parameters with HLA-DQ. The team's sample group was 62% females, with 86% showing classical clinical celiac presentation, and 99% showing positive anti-transglutaminase 2/endomysium antibodies. Patients averaged about 30 months old at disease onset. This study puts the rate of celiac disease in first-degree relatives at about five percent of total patients, while HLA-DQ genetics showed increased homozygosity of HLA-DQ2.5 and HLA-DQ8. In the non-celiac disease family history group, an association between delayed disease onset and HLA-DQ8 carriage was observed (p < 0.001), besides an influence of HLA-DQB1*02 gene dosage on clinical presentation and severity of histological damage (after adjusting for age and sex, p = 0.05 and p = 0.02, respectively) and a trend towards presence of specific antibodies (p = 0.09). Due to the small sample size, these associations could not be properly assessed in the group of patients with affected first-degree relatives. For people with celiac disease, HLA-DQ genotypic frequency varies depending on the close family history of the disease. For people who do not have first-degree relatives with celiac disease, carrying the HLA-DQ2.5 gene with double dose of HLA-DQB1*02 seems correspond to classical clinical celiac presentation and more severe gut damage. Clearly more study is needed to get a better picture of the connections between HLA-DQ genotypes and particular manifestations of celiac disease. However, this study offers one more piece of the celiac disease and genetics puzzle. Stay tuned as more information becomes available. Read more in BMC Gastroenterology 201919:91 -
Hello! I am a new mom of a 7 month old baby. At the age of 6 months I began to feed my daughter vegetable based foods and also cereal with wheat, she developed two small dots on her face (one near chin, the other on her cheek.) I thought it was just baby acne since she had had it before.. Little did i know this "acne" would spread. Within a weekend of being on vacation and having limited access to her vegetable based food, I opted to feeding her mostly the cereal. My mistake. The two dots began getting larger and spreading to her cheeks. I began to research to try and find a skin condition that matched hers, the closes thing was Celiac Disease and DH Dermatitis Herpetiformis. I could see the areas being affected were on the back of her neck, cheeks, arms and elbows, and her ankles. It became blistery obviously itchy and uncomfortable. My husband did a DNA test that showed that he carries the genetic trait for Celiac Disease, so I have no doubt thats what it is. I stopped the cereal within immediate realization that she could have a gluten intolerance. Which I suppose I shouldn't have done because thats the only way to find out if they are indeed intolerant. Within a few days of gluten being withheld from her diet her face began to clear up again, but still from time to time will flair back up. (its only been about two weeks.) Is there a chance gluten is still in her system?? I also am breastfeeding, which I have read different things about it passing through the milk. As of now I am trying to keep my gluten intake level at a 0. Is there anyone who knows more information about Celiac in infants and how long a rash will last? or where I can find information for my sweet baby girl? Thank you in advance <3
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Hi Everyone, I am looking for any relevant medical studies, and some general support, that may help me sort out contradictory test results and follow up for my daughter. First family history: My husband presented with pediatric DH and was confirmed through skin biopsy at age 11. His younger sister had GI issues forever, but no rashes. She was given the TTG blood test seven times over many years and it was always negative, with normal total IgA levels . She final convinced someone to do an endoscopy anyway, at age 35, and had full-blown biopsy confirmed celiac with severe intestinal damage and a concurrent diagnosis of hashimoto's thyroiditis. So she is in the tiny percentage where TTG test and IGA never worked. DH's father is also now diagnosed as a celiac - after developing psoriasis and diabetes, he finally took the standard blood test at a free celiac awareness event in his 60s (TTG positive-but late in life) and later endoscopic biopsy confirmed celiac disease. His brother and multiple first cousins on husbands side are also being diagnosed as celiac (biopsy) or have adopted a gluten-free diet without diagnosis because of symptoms. (In other words...the genetic link on that side seems to be...stronger? than reported risk rates). BTW, there are also autoimmune disorders on my side (my dad has churgg-strauss, both sisters hashimotos thyroiditis) though no diagnosed gluten issues. So... my eldest daughter is seven. She had the TTG test at three (negative) and six (negative) ordered by her regular pediatrician at our request. She has ??symptoms??. It is HARD to tell with kids, and I am trying to check my own anxiety - I don't want to overreact needlessly. However, I think it is fair to say she exhibits: heightened irritability, sensory issues, strange recurring rashes on legs, face, and buttocks with no identified contact allergens, (husband says they didn't look like his DH, so ?), inconsistent (but frequent) reports of stomach pain, and inconsistent toileting issues. After a spike in these symptoms, to alleviate worry, we went to a GI celiac specialist for testing at a very well respected celiac center. The Doc recommended TTG, total IGA, DGP-IgG, and the genetic test. At age 7 she came back negative for TTG, normal for total IgA levels, and a strong positive on DGP-IgG. The range for her test - 20-30 considered a weak positive, over 30 a positive. Her results were over 100. He said based on this 'remarkable' serology result and the family history, she should have an endoscopy (multiple biopsies). However, he also told us her genetic results were negative, and her genes were incompatible with celiac disease. He followed up by saying that because her tests were contradictory we should do the endoscopy. We never saw the full genetic test results, and I need to figure out how to request them, but I assumed this meant she was negative for HLA DQ2 and DQ8 (I don't know this for sure.) Her endoscopy results were completely clean. No evidence of any damage. He calls them 'grossly unremarkable' in his lab report. He then told us that celiac disease was definitely excluded. I tried to ask about whether or not we should follow up on the high DGP-IgG result (I am concerned about other immune system implications) and he said no, and added that is could have been a false positive or it could be meaningless. IMHO, he was disappointingly snippy about it. (This totally surprised me, because we were at a celiac disease research center, and it annoyed me a bit, because in a phone conversation two weeks early he used that same test result as a strong reason for doing an endoscopy on a seven year old??) He also told me, "you can put her of a gluten-free diet if you want, but I don't recommend it." So...I would like to celebrate because she is NOT a CELIAC (yay?) but from what I understand (and if you know more please correct me !) - if she had that serology, negative biopsies, and no genetic testing they wold have considered her a 'potential celiac' and urged a gluten free diet. So.....she continues to have symptoms (inconsistent pain, rashes, toilet, sensory) that I think are not normal for a kid her age. (Example: urgent and unforeseen need to use toilet / evidence left in her underpants by the time she get there). My questions to the community: *How concerned should I be with that DGP-IgG result? Should I dismiss it as this expert suggested, given the family history? (Would you retest? Follow up with an immunologist? an allergist? Can people point me to med literature that clearly speaks to the accuracy and specificity of this test? I am confused by what I've read.) *Does anyone know of any medical lit that addresses why a kid might have an elevated DGP-IgG level if it isn't celiac disease? (I saw one study that seemed to suggest that in infants this might self resolve, but the same study pointed out that half the infants with elevated DGP-IgG and no measurable TTG results did have biopsy confirmed celiacs....) *Does anyone know of any studies that tracked DGP-IgG levels in DH patients vs other celiacs? *Does anyone know of other specific links between elevated DGP-IgG and other autoimmune disorders? *Are there other genetic markers I should check for, (including for DH instead of celiac), I should look for on her genetic report if I do manage to get a copy of it? (BTW, do you think it is worth it to try to have my husband genetically tested??? No one in his immediate family has done it because they were all diagnosed other ways.) *Are you a person that had biopsy confirmed DH and a negative genetic test? Or endoscopy confirmed celiac with a negative genetic test? (If so please please tell me you exist!) And last but not least, there are two younger sisters at elevated risk because of family history. What tests would you request for them? (I kinda want to chuck the genetic test through a window but I am trying to keep my faith in science and medicine and not be that mom-on-the-internet!) Finally -- I know I can just put her on a gluten-free diet. We are familiar with it and she already eats lots of gluten-free foods because of her dads diagnosis. However, we aren't a gluten-free household (yet) though I suspect we may be moving in that direction. The thing is, I do believe there are good lifetime reasons to have a clear diagnosis if possible. I appreciate any insights and relevant (especially reliable and evidence-based!) feedback or links. Thank you for reading such a long post! -
Hello everyone! My son is 6 years old and he is very small. He is the lower 5% of his age group for height and weight. He will be 7 years old on November 2nd and he only weighs 41pounds. I don't think he has gained weight in 2-3 years. He is a picky eater...very picky! He does not even like ice cream. He was diagnosed with hypothyroidism, which explains his short stature. He has been on synthroid for 6 months and is doing great. I do not know if he has hashimotos as he has not been tested for that. His endocrinologist did a celiac blood panel despite no digivestive issues (only poor appetite) or family history of celiac. His labwork is the following... DUAL AG SCREEN 31 (ABNORMAL normal is 0-19) TISSUE TRANSGLUTAMINASE IGA 0 TISSUE TRANSGLUTAMINASE IGG 1 IGA IMMUNOGLOBULIN ASSAY 65 DEAMIDATED GLIADIN IGA 62 (ABNORMAL normal is 0-19) DEAMIDATED GLIADIN IGG 3 ENDOMYSIAL ANTIBODY IGA <1:10 He only had two abnormal labs. Endocrinology told us to go to GI and GI did a scope on Monday. We are still waiting on biopsy results. The GI doctor said the scope looked great visually, but biopsy will be the final answer. What do y'all think? Can someone have celiac with mostly negative blood work? How accurate is the blood Work? What are the chances of this biopsy being positive? I feel like I have been waiting a lifetime for these results. Doctor said if biopsy is negitive, we should repeat blood work in two years. -
Celiac.com 09/16/2015 - Autoimmune disease, such as type 1 diabetes, Crohn's disease, and juvenile idiopathic arthritis, affect about 7 to 10 percent of the population in the Western Hemisphere. Using genome-wide association studies (GWASs), researchers have identified hundreds of susceptibility genes, including shared associations across clinically distinct autoimmune diseases. A team of researchers recently conducted an inverse χ2 meta-analysis across ten pediatric-age-of-onset autoimmune diseases (pAIDs) in a case-control study including more than 6,035 cases and 10,718 shared population-based controls. The research team included Yun R Li, Jin Li, Sihai D Zhao, Jonathan P Bradfield, Frank D Mentch, S Melkorka Maggadottir, Cuiping Hou, Debra J Abrams, Diana Chang, Feng Gao, Yiran Guo, Zhi Wei, John J Connolly, Christopher J Cardinale, Marina Bakay, Joseph T Glessner, Dong Li, Charlly Kao, Kelly A Thomas, Haijun Qiu, Rosetta M Chiavacci, Cecilia E Kim, Fengxiang Wang, James Snyder, and Marylyn D Richie. The are variously affiliated with The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Medical Scientist Training Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; the Department of Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; the Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; the Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York, USA; the Program in Computational Biology and Medicine, Cornell University, Ithaca, New York, USA, and the Department of Computer Science, New Jersey Institute of Technology, Newark, New Jersey, USA. For their study, the team identified 27 genome-wide significant loci associated with one or more pAIDs, mapping to in silico–replicated autoimmune-associated genes (including IL2RA) and new candidate loci with established immunoregulatory functions such as ADGRL2, TENM3, ANKRD30A, ADCY7 and CD40LG. The team functionally enriched the pAID-associated single-nucleotide polymorphisms (SNPs) for deoxyribonuclease (DNase)-hypersensitivity sites, expression quantitative trait loci (eQTLs), microRNA (miRNA)-binding sites and coding variants. They also identified biologically correlated, pAID-associated candidate gene sets on the basis of immune cell expression profiling and found evidence of genetic sharing. Network and protein-interaction analyses demonstrated converging roles for the signaling pathways of type 1, 2 and 17 helper T cells (TH1, TH2 and TH17), JAK-STAT, interferon and interleukin in multiple autoimmune diseases. Source: Nature Medicine 21, 1018–1027 (2015) doi:10.1038/nm.3933
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Celiac.com 03/29/2005 - The Childrens Digestive Health and Nutrition Foundation (CDHNF) with the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) announced today the findings from a survey of 200 pediatricians, family practitioners, and endocrinologists revealing the lack of understanding about celiac disease (celiac disease) in children. The survey was conducted by CDHNF in partnership with Epocrates, Inc., using the Epocrates Honors® Market Research Panel. The survey results supported the clear and urgent need to promote awareness of the individuals at risk, the associated conditions, the proper method of screening for celiac disease, and the necessary step of confirming the diagnosis with a small intestinal mucosal biopsy. Regarding the diagnosis of celiac disease, only 16% of respondents chose the most appropriate first line serological screening test for celiac disease, which is the IgA-anti-human tissue transglutaminase antibody. If the patient has positive serology for celiac disease, the majority of the survey respondents did not recognize the need to confirm the diagnosis with an intestinal biopsy before starting a gluten free diet. Up to 50% of individuals screened with an anti-gliadin antibody test may not have celiac disease at all, particularly if the person has atypical symptoms. The survey suggests that some people unnecessarily are recommended a gluten free diet, while others at risk are not being properly screened, identified and placed on a gluten free diet, said survey co-author and CDHNF Celiac Campaign Scientific Advisor Martha Dirks, MD, Sainte-Justine Hospital, University of Montreal, Canada. It is also of concern that the permanent nature of celiac disease is not emphasized by our physician respondents. Less than 65% of respondents recognized that a life-long adherence to a gluten free diet had to be maintained, added Dr. Dirks. In terms of recognizing symptoms, two thirds of the respondents felt that they were aware of at least three GI related symptoms of celiac disease and could correctly identify short stature and iron deficient anemia resistant to oral iron as manifestations of celiac disease. However, the survey also revealed there is a lack of awareness about associated conditions with celiac disease. For example, an average of 5% of people with Type I diabetes have celiac disease. However, less than 50% of respondents were aware of the association and almost 30% of respondents were against screening individuals with Type I diabetes. In addition, greater than 75% of respondents were unable to identify the condition NOT associated with celiac disease among a list of associated conditions. The level of knowledge of celiac disease is not what we like it to be. The survey illustrates that clear educational initiatives are needed to promote appropriate testing of persons at risk for celiac disease such as the recently released NASPGHAN Celiac Guidelines, NIH Consensus Conference, and our CDHNF grand rounds program, said survey co-author and CDHNF Celiac Campaign Scientific Advisor Stefano Guandalini, MD, University of Chicago. Dr. Guandalini added that an area definitely in need to be better known is that of screening for family members of patients with celiac disease. With an incidence higher than 5%, first-degree relatives must be screened for celiac disease, something that is only sporadically recommended. The survey indicates the need to provide medical professionals with as much information as possible about celiac disease. As a result, Epocrates has teamed up with CDHNF to distribute the CDHNFCD guidelines, gluten free diet guide and other educational resources to over 140,000 medical professionals via their DocAlert® messaging technology which will allow medical professionals to save the guidelines summary to their hand-held device and request additional information via e-mail. Epocrates continues to focus on patient care and safety, and our members look to us to provide the latest, most current information on drugs and diseases such as that provided through this campaign. We are pleased to support this effort to promote child health and wellness, said Kirk Loevner, Epocrates President and CEO. The NASPGHAN and CDHNF survey was conducted through the Epocrates Honors market research panel, which enables healthcare professionals to share their clinical expertise. Typically, this research consists of online surveys that take between 10 to 45 minutes to complete. Criteria to participate vary by study. In exchange for their participation, users receive an honorarium. Fifty-seven of the nations largest healthcare market research companies conduct hundreds of studies annually by accessing the industry-leading Epocrates Honors panel of more than 121,000 U.S. physicians and 254,000 allied healthcare professionals including physician assistants, nurse practitioners, RNs, dentists, pharmacists and others. About NASPGHAN and CDHNF The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition, founded in 1972, is the only society in North America and the largest in the world, dedicated to serving the Pediatric Gastroenterology and nutrition communities. NASPGHAN was established to advance the understanding of the normal development and physiology of diseases of the gastrointestinal tract and liver in infants, children, and adolescents, and to foster the dissemination of this knowledge through scientific meetings, professional education, public education, and interaction with other organizations concerned with Pediatric Gastroenterology and nutrition. Visit our website at www.naspghan.org. The Childrens Digestive Health and Nutrition Foundation was established in 1998 by NASPGHAN. CDHNF is the leading physician source of information on pediatric gastrointestinal, liver and nutritional issues. CDHNF is dedicated to improving the care of infants, children and adolescents with digestive disorders by promoting advances in clinical care, research and education. In addition to the pediatric GERD education campaign, CDHNF also leads a campaign on Celiac Disease. Additional information on CDHNF and its campaigns can be found at www.cdhnf.org. About Epocrates, Inc. San Mateo, CA-based Epocrates is transforming the practice of medicine by providing innovative clinical tools at the point of care and deploying leading-edge technologies that enable communication. The company has built a clinical network connecting more than 1 in 4 U.S. physicians, students at every U.S. medical school and hundreds of thousands of other allied healthcare professionals with other healthcare stakeholders. Epocrates products have shown a positive impact on patient safety, health care efficiency and patient satisfaction. -
The Journal of Pediatric Gastroenterology and Nutrition (1996;22:414) published the abstracts of the forthcoming ESPGAN Meeting (June 4-8, 1996 in Munich, Germany). Troncone et al will present their work: Oat prolamines activate mucosal immune response in the in vitro cultured treated coeliac mucosa The conclusion is that oat prolamines are able to activate the T-cell mediated mucosal immune response in the coeliac jejunum, and represent a warning against the inclusion of oats in the diet of coeliac patients.
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