keyword
https://read.qxmd.com/read/37053206/the-clinical-phenotype-of-koolen-de-vries-syndrome-in-turkish-patients-and-literature-review
#21
JOURNAL ARTICLE
Gokcen Karamik, Beyhan Tuysuz, Esra Isik, Aysegul Yilmaz, Yasemin Alanay, Evrim Cifci Sunamak, Enise Avci Durmusalioglu, Ferda Ozkinay, Gokhan Ozan Cetin, Nuray Ozturk, Ercan Mihci, Banu Nur
Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.31 including KANSL1 gene or intragenic pathogenic variants in KANSL1 gene. Here, we describe the clinical and genetic spectrum of eight Turkish children with KdVS due to a de novo 17q21.31 deletion, and report on several rare/new conditions. Eight patients from unrelated families aged between 17 months and 19 years enrolled in this study. All patients evaluated by a clinical geneticist, and the clinical diagnosis were confirmed by molecular karyotyping...
April 13, 2023: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/36915680/cord-serum-metabolic-signatures-of-future-progression-to-immune-mediated-diseases
#22
JOURNAL ARTICLE
Tuulia Hyötyläinen, Bagavathy Shanmugam Karthikeyan, Tannaz Ghaffarzadegan, Eric W Triplett, Matej Orešič, Johnny Ludvigsson
Previous prospective studies suggest that progression to autoimmune diseases is preceded by metabolic dysregulation, but it is not clear which metabolic changes are disease-specific and which are common across multiple immune-mediated diseases. Here we investigated metabolic profiles in cord serum in a general population cohort (All Babies In Southeast Sweden; ABIS), comprising infants who progressed to one or more immune-mediated diseases later in life: type 1 diabetes (n = 12), celiac disease (n = 28), juvenile idiopathic arthritis (n = 9), inflammatory bowel disease (n = 7), and hypothyroidism (n = 6); and matched controls (n = 270)...
March 17, 2023: IScience
https://read.qxmd.com/read/36899396/idiopathic-pulmonary-hemosiderosis-and-stroke-secondary-to-protein-c-deficiency-in-a-child-with-down-syndrome-a-case-report
#23
JOURNAL ARTICLE
Houda Ajmi, Chahra Bouafsoun, Nadia Arifa, Jalel Chemli, Saoussen Abroug
BACKGROUND: Patients with Down syndrome are at a higher risk of developing autoimmune disorders such as thyroiditis, diabetes, and celiac disease compared with the general population. Although some diseases are well known to be associated with Down syndrome, others such as idiopathic pulmonary hemosiderosis and ischemic stroke due to protein C deficiency remain rare. CASE PRESENTATION: We report a case of a 2.5-year-old Tunisian girl with Down syndrome and hypothyroiditis admitted with dyspnea, anemia, and hemiplegia...
March 11, 2023: Journal of Medical Case Reports
https://read.qxmd.com/read/36816790/gastric-perforation-secondary-to-t-cell-lymphoma
#24
Joaquin Fernandez-Alberti, Matías Mihura Irribarra, Agustín Rancati, Nicolas Panzardi, Maria Florencia Cora, Daniela Speisky, Daniel Enrique Pirchi
INTRODUCTION: Malignant primary lymphoma represents only 1%-5% of all gastric tumours. Spontaneous gastric perforation in the absence of chemotherapy in these cases is extremely rare. The vast majority of primary gastric lymphomas have a B-cell phenotype that originates from mucosa-associated lymphoid tissue and primary gastric lymphomas with a T-cell phenotype are rarely reported. This report describes a case of a primary gastric T-cell malignant lymphoma associated to spontaneous perforation and peritonitis...
2023: Ecancermedicalscience
https://read.qxmd.com/read/36601211/celiac-patient-with-new-episodes-of-diarrhea-a-case-report
#25
Joana Dias Antunes, Ivo Barreiro, Luísa Loureiro, Abílio Gonçalves
Celiac disease is a relatively common autoimmune disease that affects the gut's ability to process gluten. It is frequently associated with other autoimmune diseases. In this article, the authors present a clinical case of a 65-year-old female patient with a history of celiac disease and autoimmune hypothyroidism. This patient was admitted to the emergency room with generalized edema and chronic diarrhea with mucus as well as reports of unusual weight loss. A requested fecal analysis tested positive for fecal calprotectin...
December 2022: Curēus
https://read.qxmd.com/read/36562959/a-first-trimester-serum-tsh-in-the-4-10-miu-l-range-is-associated-with-obstetric-complications-in-thyroid-peroxidase-antibody-negative-women
#26
JOURNAL ARTICLE
F Magri, C Bellingeri, I De Maggio, L Croce, F Coperchini, M Rotondi, L Chiovato, A Spinillo, F Beneventi
PURPOSE: The impact of mild subclinical hypothyroidism on pregnancy outcomes in TPOAb-negative women is poorly explored. The aim of the present study was the evaluation in a wide cohort of TPOAb-negative pregnant women the role of subclinical hypothyroidism (SCH) on several pregnancy outcomes. METHODS: The study included women aged ≥ 18 years with a singleton pregnancy without known thyroid disease with serum TSH concentration between 0...
July 2023: Journal of Endocrinological Investigation
https://read.qxmd.com/read/36320440/epidemiology-of-disorders-associated-with-short-stature-in-childhood-a-20-year-birth-cohort-study-in-finland
#27
JOURNAL ARTICLE
Samuli Harju, Antti Saari, Reijo Sund, Ulla Sankilampi
Background: Many primary and secondary disorders disturb growth and cause short stature (height below -2 SDS) in childhood. Growth monitoring programs aim at their early detection but are not evidence-based: epidemiology of childhood growth disorders is poorly characterized, and no consensus exists on priority target conditions. Herein, we describe population-based epidemiological data on several primary and secondary growth disorders associated with short stature in childhood. Materials and Methods: This retrospective population-based 20-year birth cohort study examined 1 144 503 children (51% boys) born in Finland between 1998 and 2017, with 16...
2022: Clinical Epidemiology
https://read.qxmd.com/read/36294348/autoimmune-thyroid-disorders-are-more-prevalent-in-patients-with-celiac-disease-a-retrospective-case-control-study
#28
JOURNAL ARTICLE
Maria Pina Dore, Giuseppe Fanciulli, Malik Rouatbi, Sandro Mereu, Giovanni Mario Pes
BACKGROUND: Among patients with celiac disease (CD), there is an increased incidence of autoimmune thyroid disorders (AITDs), with hypothyroidism being more frequent than hyperthyroidism. This retrospective case-control study aimed to explore the prevalence of TDs in a population of adult celiac patients from Northern Sardinia, a geographic area with a high prevalence of autoimmune disorders. METHODS: Data were collected from consecutive patients with CD (cases) and without CD (controls) who were undergoing upper endoscopy and referred to a tertiary gastroenterology section of a teaching hospital (University of Sassari, Italy)...
October 12, 2022: Journal of Clinical Medicine
https://read.qxmd.com/read/36140482/new-approach-to-addison-disease-oral-manifestations-due-to-endocrine-dysfunction-and-comorbidity-burden
#29
REVIEW
Narcis Mihăiţă Bugălă, Mara Carsote, Loredana Elena Stoica, Dana Maria Albulescu, Mihaela Jana Ţuculină, Smaranda Adelina Preda, Ancuta-Ramona Boicea, Dragoș Ovidiu Alexandru
This review highlights oral anomalies with major clinical impact in Addison disease (AD), including dental health and dermatologic features, through a dual perspective: pigmentation issues and AD comorbidities with oral manifestations. Affecting 92% of AD patients, cutaneomucosal hyperpigmentation is synchronous with or precedes general manifestations by up to a decade, underlying melanocytic infiltration of the basal epidermal layer; melanophages in the superficial dermis; and, rarely, acanthosis, perivascular lymphocytic infiltrate, and hyperkeratosis...
August 28, 2022: Diagnostics
https://read.qxmd.com/read/36042558/continuing-medical-education-questions-september-2022
#30
JOURNAL ARTICLE
Srikrishna V Patnana
Article Title: Association of Celiac Serology Normalization With The Risk of Hypothyroidism: A Cohort Study.
September 1, 2022: American Journal of Gastroenterology
https://read.qxmd.com/read/36039251/the-prevalence-of-associated-autoimmune-diseases-among-adults-with-type-1-diabetes-mellitus-a-cross-sectional-study
#31
JOURNAL ARTICLE
Ahmed R Alibrahim, Yousef M Al-Saleh, Thamer O Basahih, Abdullah R Bukhari, Abdullah A Alqahtani, Mohammed Alqahtani, Emad Masuadi, Naif S Albudayri
Background The relationship between type 1 diabetes mellitus (T1DM) and other autoimmune diseases has been known; however, the actual prevalence in the adult population nor clinical symptoms has not been determined locally. Objectives We aim to determine the prevalence of associated autoimmune diseases (Hashimoto's thyroiditis, celiac disease (CD), and adrenal insufficiency (AI)) and evaluate the most reporting symptoms and glycemic control assessment, as well as microvascular complications and hypoglycemia episodes...
July 2022: Curēus
https://read.qxmd.com/read/35973169/association-of-celiac-serology-normalization-with-the-risk-of-hypothyroidism-a-cohort-study
#32
JOURNAL ARTICLE
Maya Aharoni Golan, Becca Feldman, Jacob E Ollech, Moshe Hoshen, Raanan Shamir, Rachel-Gingold Belfer, Zohar Levi
INTRODUCTION: We evaluated whether persistent-positive celiac serology is associated with the risk of hypothyroidism. METHODS: We extracted a cohort of subjects aged 1-80 with a positive IgA anti-tissue transglutaminase (Anti-tTG) between 1.1.2008 and 31.12.2012 and a repeat Anti-tTG test within 6-36 months from a large population-based electronic medical record database. Based on serology tests, we categorized the pediatric (age <21 years old) and adult cohorts into normalized or persistent-positive serology groups...
June 15, 2022: American Journal of Gastroenterology
https://read.qxmd.com/read/35783876/myxedema-secondary-to-levothyroxine-malabsorption-in-newly-diagnosed-celiac-disease
#33
Brandon Wiggins, Kyle T Knight, Fady Banno, Mark Minaudo
Celiac disease (CD) is an autoimmune disorder that predominantly affects the small intestine and is related to antibodies created against gluten when the substance is ingested. It is uncommon comorbidity in patients with Hashimoto's thyroiditis (HT). Myxedema is a severe form of hypothyroidism that is commonly related to new diagnoses, medication non-compliance, or malabsorption of thyroid supplementation that can have life-threatening associated conditions like heart failure and coma. In this article, we will describe a case of myxedema secondary to levothyroxine malabsorption in the setting of a newly diagnosed CD...
May 2022: Curēus
https://read.qxmd.com/read/35600201/autoimmune-polyglandular-syndrome-type-2-a-case-report
#34
Agyad Bakkour, Mohammed Deeb Zakkor, Lina Taha Khairy, Rostom Horo, Eman Mohammed Sharif Ahmed, Hachem Alhussein
INTRODUCTION: Autoimmune polyglandular syndrome 2(APS 2) is immune-mediated destruction that affects two or more endocrine glands and causes a constellation of multiple glands insufficiencies. CASE PRESENTATION: we reported a rare case 9 years old male diagnosed with APS 2; he had adrenal insufficiency three years ago due to leak adherence to hydrocortisone. He was admitted to the hospital for adrenal crises after hemodynamic stability; laboratory evaluation showed that he had Hashimoto's thyroiditis, celiac disease, and the glutamic acid decarboxylase antibody (GAD) Anti-islet cell antibodies were positive, so he was also predisposed to DM 1 later...
June 2022: Annals of Medicine and Surgery
https://read.qxmd.com/read/35504830/celiac-disease-in-chilean-adults
#35
JOURNAL ARTICLE
C von Mühlenbrock-Pinto, A M Madrid-Silva
INTRODUCTION AND AIM: To characterize a university hospital population of Chilean adult patients with celiac disease. PATIENTS AND METHOD: We retrospectively reviewed the records of patients under control that were diagnosed with celiac disease through clinical characteristics, serology, and histology. RESULTS: A total of 149 patients were included, 119 (79.9%) of whom were women. Mean patient age was 42 years at diagnosis and 13.4% of patients had a family history of celiac disease...
2023: Revista de Gastroenterología de México
https://read.qxmd.com/read/35340751/vitamin-b12-cobalamin-deficiency-in-overt-and-subclinical-primary-hypothyroidism
#36
JOURNAL ARTICLE
Mohamed Aon, Sherif Taha, Khaled Mahfouz, Mohamed M Ibrahim, Ahmed H Aoun
BACKGROUND: B12 (cobalamin) deficiency has been reported in hypothyroid patients with variable prevalence rates thus routine screening of hypothyroid patients was recommended by some and discouraged by others. We aimed to assess the prevalence of B12 deficiency among hypothyroid patients and to evaluate for pernicious anemia and celiac disease as etiologies. METHODS: A total 133 patients were included. Thyroid hormones and thyroid peroxidase (TPO) autoantibodies were measured...
2022: Clinical Medicine Insights. Endocrinology and Diabetes
https://read.qxmd.com/read/35077020/examining-health-outcomes-in-juvenile-idiopathic-arthritis-a-genetic-epidemiology-study
#37
JOURNAL ARTICLE
Sarah L N Clarke, Rebecca C Richmond, Jie Zheng, Wes Spiller, Athimalaipet V Ramanan, Gemma C Sharp, Caroline L Relton
OBJECTIVE: Juvenile idiopathic arthritis (JIA) is the most common pediatric rheumatic disease; however, little is known about its wider health impacts. This study explores health outcomes associated with JIA genetic liability. METHODS: We used publicly available genetic data sets to interrogate the genetic correlation between JIA and 832 other health-related traits using linkage disequilibrium score regression. Two-sample Mendelian randomization (2SMR) was used to examine four genetic correlates for evidence of causality...
January 25, 2022: ACR open rheumatology
https://read.qxmd.com/read/34969211/the-importance-of-gluten-exclusion-in-the-management-of-hashimoto-s-thyroiditis
#38
JOURNAL ARTICLE
Paulina Ihnatowicz, Paweł Wątor, Małgorzata Ewa Drywień
INTRODUCTION AND OBJECTIVE: There is a growing interest in a gluten-free diet (GFD) in the management of various autoimmune diseases, including Hashimoto's thyroiditis (HT). Even medical professionals claim that gluten elimination may improve a patient's treatment. Some studies suggest a relationship between gluten intake and HT development or progression. The aim of the study was to analyze and describe available knowledge regarding the effect of gluten or a gluten-free diet on thyroid autoimmunity in HT with or without celiac disease...
December 29, 2021: Annals of Agricultural and Environmental Medicine: AAEM
https://read.qxmd.com/read/34804528/dilated-cardiomyopathy-associated-with-celiac-disease-a-case-report
#39
Salma Elnour, Maram Hashim, Halah Ibrahim
BACKGROUND: Celiac disease, an immune-mediated inflammation of the small intestine, occurs in genetically predisposed individuals, and is caused by sensitivity to dietary gluten and related proteins. The global prevalence is approximately 1%. Celiac disease is frequently associated with extra-intestinal manifestations, including iron deficiency anemia, dermatologic eruptions, type 1 diabetes mellitus, thyroid disease, and connective tissue disorders, but is rarely associated with cardiomyopathy...
November 2021: Clinical Case Reports
https://read.qxmd.com/read/34500525/peak-growth-hormone-level-variability-during-insulin-tolerance-test-in-children-with-short-stature
#40
JOURNAL ARTICLE
Mohsina Noor Ibrahim, Nadeem Noor, Mehrun Nisa, Taj Muhammad Leghari, Yasir Naqvi Khan, Jamal Raza
OBJECTIVE: To determine the variations in peak growth hormone levels during insulin tolerance test (ITT) in diagnosis of growth hormone deficiency (GHD) in children presenting with short stature. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Endocrinology, National Institute of Child Health (NICH), from January to December 2018. METHODOLOGY: Clinical records of all children who underwent ITT during the above mentioned period were reviewed...
September 2021: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
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