scholarly journals Clinical profile of patients with Seronegative celiac disease

Author(s):  
Elham Rahmanipour ◽  
fahimeh attarian ◽  
Mohammad Ghorbani ◽  
Bijan Shahbazkhani ◽  
Vahid Ghavami ◽  
...  

Abstract Background Celiac disease (1) mostly diagnosed base on positive serology and duodenal mucosal atrophy, but some patients have negative serology and their diagnosis have some limitation, it delay in diagnosis likely accompanied a poor prognosis and high risk of developing complications of CD. The aim of this study was determent clinical profile of patients with Seronegative CD (SNCD). Methods in this retrospective study, 1115+8 patients, that evaluated for CD with mucosal atrophy included between 2010 to2020. All patients with IgA deficiency other IgG based serology for diagnosis of celiac was done and if these antibodies were negative consider as possible SNCD. If they had positive DQ2-DQ8, and clinical symptoms or had positive challenge test after12 months of GFD were considered as SNCD. Results of total 1115 patients 27 (2.4%) had seronegative mucosal atrophy of duodenum and diagnosed as a SNCD (96.2% marsh3), the mean age and BMI in SNCD patients were significantly higher than other CD patients (p<0.05). Conclusion The prevalence of SNCD was 2.4% that likely related to over weighting, so clinicians should be considered high possible of seronegative CD in patients with over weighting and mucosal atrophy of duodenum.

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Eli Magen ◽  
Viktor Feldman ◽  
Mishal Joseph ◽  
Hadari Israel

Selective IgM immunodeficiency (SIgMID) is a heterogeneous disorder with no known genetic background and may occur as a primary or a secondary condition. Celiac disease has been reported in association with several humeral immunodeficiencies, including isolated severe selective IgA deficiency, panhypogammaglobulinemia, and isolated combined IgA and IgM deficiency. There are only few reported cases of pediatric and adult patients with SIgMID and celiac disease. In this paper, we describe an adult patient with a symptomatic secondary SIgMID associated with undiagnosed celiac disease, with a resolution of clinical symptoms of immunodeficiency and serum IgM normalization following a gluten-free diet.


2020 ◽  
Vol 33 (1) ◽  
pp. 89-93 ◽  
Author(s):  
Omar I. Saadah ◽  
Nouf M. ALNosani

AbstractBackgroundCeliac disease (CeD) is an immune-mediated enteropathy induced by gluten exposure in individuals with genetic susceptibility. Short stature (SS) can be the sole clinical manifestation of CeD, in the absence of gastrointestinal (GI) symptoms. This study aimed to determine the prevalence of CeD in Saudi Arabian children with SS.Patients and methodsMedical records were reviewed in a total number of 275 retrospective cases (during the period 2002–2014) of children with isolated SS from King Abdulaziz University Hospital, Jeddah. Their serum samples were tested with tissue transglutaminase (tTG) antibodies. Patients with a positive serology were scheduled for an upper endoscopy and intestinal biopsy to confirm CeD diagnosis before starting a gluten-free diet (GFD). Clinical, anthropometric and laboratory data were recorded for all patients.ResultsA total of 275 children with SS were included. The mean age ± standard deviation (SD) was 9.4 ± 4.0 years (range, 2.6–16.9 years) and males constituted the predominant gender group (151/275; 54.9%) over females (124/275; 45.1%). The mean ± SD height for age z score (HAZ) was −2.9 ± 1.0.Thirty-eight (13.8%) had positive serology, and 16 (5.8%) had biopsy-proven CeD. Apart from the difference in duration of delayed bone age between CeD patients and CeD-negative serology subjects (mean ± SD, 39.6 ± 10.5 vs. 18.6 ± 16.8, p = 0.02), no other major difference in other clinical or laboratory parameters was evident.ConclusionsThe prevalence rate of CeD in Saudi Arabian SS children was 5.8%, which is comparable to published reports of a number of other countries. Regular screening of children with SS is therefore justifiable.


2021 ◽  
Vol 12 ◽  
Author(s):  
Klára Fekete ◽  
Judit Tóth ◽  
László Horváth ◽  
Sándor Márton ◽  
Máté Héja ◽  
...  

Introduction: Intracerebral hemorrhage (ICH) is a devastating disease, which may lead to severe disability or even death. Although many factors may influence the outcome, neurophysiological examinations might also play a role in its course. Our aim was to examine whether the findings of electroencephalography (EEG) and transcranial magnetic stimulation (TMS) can predict the prognosis of these patients.Methods: Between June 1 2017 and June 15 2021, 116 consecutive patients with ICH were enrolled prospectively in our observational study. Clinical examinations and non-Contrast computed tomography (NCCT) scan were done on admission for ICH; follow-up NCCT scans were taken at 14 ± 2 days and at 3 months ± 7 days after stroke onset. EEG and TMS examinations were also carried out.Results: Of the patients in the study, 65.5% were male, and the mean age of the study population was 70 years. Most patients had a history of hypertension, 50.8% of whom had been untreated. In almost 20% of the cases, excessive hypertension was measured on admission, accompanied with &gt;10 mmol/L blood glucose level, whereas their Glasgow Coma Scale was 12 on average. Presence of blood in the ventricles or subarachnoid space and high blood and perihematomal volumes meant poor prognosis. Pathological EEG was prognostic of a worse outcome. With TMS examination at 14 days, it might be possible to estimate outcome in a univariate model and the absence, or reduction of the amplitude of the motor evoked potentials was associated with poor prognosis.Conclusion: Together with the clinical symptoms, the volume of bleeding, perihematomal edema (or their combined volume), and neurophysiological examinations like EEG and TMS play an important role in the neurological outcome of patients with ICH. This might affect the patients' rehabilitation plans in the future, since with the help of the examinations the subset of patients with potential for recovery could be identified.


2021 ◽  
Vol 7 (6) ◽  
pp. 448
Author(s):  
Rebecca MacInnes ◽  
Adilia Warris

Histoplasmosis is an endemic fungal infection that is confined to specific geographical regions. Histoplasma spp. are primary pathogens that cause disease in both immunocompetent and immunocompromised patients, ranging from a single-organ (mostly affecting the lungs) infection to life-threatening disseminated disease. Knowledge about the clinical epidemiology relies on data from adult populations; little is known about the patient and disease characteristics in the paediatric population. Therefore, a structured review of published cases of paediatric histoplasmosis between 2000 and 2019 was performed. A literature search of PubMed was conducted and the epidemiological and clinical data from 83 cases were analysed. The mean age at presentation was 9.5 ± 5.5 years, and 51% were girls. Two-thirds of the children were immunocompromised. The majority of children presented with disseminated disease. The most frequently observed clinical symptoms were respiratory symptoms, alongside non-specific systemic features, including fever, myalgia, fatigue and weight loss. The mortality rate was 11%. Histoplasmosis affects children of any age. Being immunocompromised is a risk factor for severe and disseminated disease. The lack of specific presenting features leads to underreporting and delay in diagnosis. To improve the recognition and outcome of histoplasmosis in childhood, increased awareness and surveillance systems are warranted.


2018 ◽  
Vol 27 (3) ◽  
pp. 241-247 ◽  
Author(s):  
Fatemeh Heydari ◽  
Mohammad Rostami-Nejad ◽  
Ali Moheb-Alian ◽  
Mostafa Haji Mollahoseini ◽  
Kamran Rostami ◽  
...  

Background & Aims: There is increasing evidence regarding elevated serum levels of inflammatory cytokines in patients with celiac disease (CD), but little is known about their levels in patients with non-celiac gluten sensitivity (NCGS). The aim of this study was to evaluate the serum levels of inflammatory cytokines in Iranian patients with CD and NCGS and to compare them with those of healthy individuals. Methods: A total of 110 treated CD, 15 with NCGS, and 46 healthy subjects were enrolled during 2016. Serum levels of IL-1, IL-6, IL-8, IL-15 and IFN-γ were measured using ELISA, and compared between groups. The correlation of the severity of mucosal damage and clinical symptoms with serum levels of cytokines was also assessed. Results: The mean serum levels of IFN-γ (p = 0.04) and IL-6 (p = 0.007) were significantly different between the patients in the CD and control groups, and IL-8 was significantly higher in the CD group compared with patients in the NCGS group (p = 0.04). Statistically significant correlations were observed between the serum levels of IFN-γ and abortion (p = 0.01), IL-1 and weight loss (p = 0.043) and infertility (p = 0.0001) in CD patients, and between IFN-γ and abortion (p = 0.01) and infertility (p = 0.01) in the NCGS patients. Moreover, no significant relationship was observed between the severity of mucosal damage and the serum level of the studied cytokines. Conclusions: Inflammatory cytokines are implicated in the pathogenesis of CD, and their serum levels might help to identify a diagnostic marker to differentiate CD from NCGS. However, further studies with a larger sample size are recommended.


Author(s):  
Emilia Majsiak ◽  
Magdalena Choina ◽  
Alastair M. Gray ◽  
Mariusz Wysokinski ◽  
Bożena Cukrowska

The diagnosis of celiac disease (CD) may be delayed due to non-specific clinical symptoms. The aim of the study was to evaluate the clinical manifestation and diagnostic process of CD in Polish children and adults. Methods: The members of the Polish Coeliac Society (n=2 500) were asked to complete a questionnaire on socio-demographic factors, clinical and diagnostic aspects of CD. The analysis was based on 796 responses from patients with confirmed CD diagnosis, and included 224 (28.1%) children and 572 (71.9%) adults. Results: The mean duration of symptoms prior to CD diagnosis in children was significantly shorter than in adults (p &lt; 0.001), and amounted to 3.1 and 9 years respectively. The most frequent symptoms before CD diagnosis were abdominal pain and bloating in children (70.4%), and chronic fatigue in adults (74.5%). Although almost all CD patients claimed to strictly avoid gluten after CD diagnosis, symptoms were still present in the majority of these respondents. No comorbid diseases were reported by 29.8% of children and by 11.7% of adults (p &lt; 0.001). Conclusions: The results indicate that CD diagnosis is delayed in Poland, espe-cially in adults, and clinicians should be aware of the diversity in CD presentation.


2018 ◽  
Vol 5 (9) ◽  
pp. 3066
Author(s):  
Pramod S. ◽  
Ashwath Narayan Ramji

Background: Pelvi-ureteric junction obstruction (PUJO) is defined as anatomical or functional obstruction to the flow of urine from the pelvis to the upper ureter. With the advent of ultrasonography most of the cases of PUJO are identified in antenatal period. The treatment protocol for antenatal diagnosed PUJO is standardized. Few children present later in life. Present study was done to evaluate clinical profile and outcome of children presenting with PUJO above 1 year.Methods: A retrospective observational study conducted by the department of Paediatric Surgery, KIMS hospital Bangalore.  All children with PUJO above 1 year of age from January 2015 to January 2018 were included. Clinical, biochemical and imaging findings of these children were tabulated. A diuretic renogram was done to confirm the diagnosis. The children underwent either pyeloplasty or nephrectomy, depending on the function of the kidney. In children with calculi, pyelolithotomy with pyeloplasty was done. The children were followed up post-surgery.Results: Twenty-six children were included in the study. Mean age of presentation was 6.86±4.13years. Most common presentation was pain abdomen. Left kidney was commonly involved. The mean anteroposterior pelvic dimension (APPD) of involved kidney was 38.96±17.7 mm. 5 children presented with poorly functioning kidney with split renal function less than 10%. In three children PUJO was associated with pelvic calculi. Out of the 26 children simple nephrectomy was required in 4 (15%) children. The remaining 22 children underwent pyeloplasty. Mean duration of stay was 6.19±1.8 days. Post-pyeloplasty diuretic renogram showed improved drainage with improved function.Conclusions: PUJO is common cause of urinary obstruction in children. Delay in diagnosis or presentation leads to increased chances of renal damage and loss. Hence it is important to diagnose PUJ obstruction at the earliest and receive prompt treatment. 


Author(s):  
Lorete M S KOTZE ◽  
Shirley R R UTIYAMA ◽  
Luiz Roberto KOTZE ◽  
Renato NISIHARA

ABSTRACT BACKGROUND: Celiac disease (CD) is an autoimmune disease characterized by immune reaction mostly to wheat gluten. The diagnosis is based on clinical, serological and histological findings in patients ingesting gluten. Cases that the clinical profile indicates CD and the autoantibodies are negative bring so a dilemma for the professional, as the risk of missed the diagnosis or a delay at the same. OBJECTIVE: To show the importance of correct diagnosis of cases with seronegative celiac disease (SNCD). METHODS: Ten cases of SNCD Brazilian patients were retrospectively studied (2013 to 2019). Data of clinical complaints, autoantibodies, IgA serum levels, histological findings and HLA-DQ2/DQ-8 were compiled. Dual-X densitometry, delay at diagnosis, previous autoimmune diseases and family history of CD were also checked. RESULTS: All SNCD patients presented clinical symptoms of CD, with confirmed diagnosis by histological findings of the duodenal mucosa and HLA-DQ2 and/or HLA-DQ8 positivity. All patients had normal IgA levels and negative autoantibodies (IgA-anti-transglutaminase and anti-endomysial). Dual-X densitometry detected osteopenia in two women and osteoporosis in two males, all with low levels of vitamin D. Delay diagnostic ranged from 1 to 19 years. Familiar occurrence of CD was reported in 40% of the cases. After one year of gluten-free diet, eight patients refer improve of symptoms, while duodenal biopsies, done in five cases, showed histological improvement. CONCLUSION: Patients who demonstrate the clinical profile of celiac disease with negative serology and normal levels of IgA, especially those who have family members with celiac disease, should be submitted to duodenal biopsies to look for histological findings.


2018 ◽  
Vol 25 (05) ◽  
pp. 669-675
Author(s):  
Javaria Rasheed ◽  
Tajwer Khan ◽  
Muhammad Khalid ◽  
Fauzia Zafar

Background: Celiac disease (CD) is an immune-mediated enteropathy stimulatedby intake of gluten, rye and barley in genetically prone persons. In children, gastrointestinalsymptoms are usual if disease is diagnosed in first two years of life but as the age at onset of theillness advances to late years, extra-intestinal manifestations have been increasingly recognizedaffecting almost all organ systems. Objectives: To determine the prevalence of varied clinicalmanifestations of CD in children. To assess classical and non-classical features in patients withCD. Study Design: Cross sectional study. Setting: Nishtar Hospital Multan. Period: July 2016to July 2017. Material & Methods: Ninety-six patients with celiac disease were analyzed. Thediagnosis was confirmed by serological antibodies and positive biopsy wherever needed. Allthe cases were evaluated for different intestinal or extra-intestinal features. Also the cases werecategorized based on their primary clinical features into two groups. The classical group hadCD patients with usual symptoms. The non-classical group had atypical symptoms. Results:The mean age of CD patients at the time of diagnosis was 5.98 ± 3.19 years. Median valuefor duration of clinical symptoms was 24 months. The common typical clinical presentationsincluded failure to thrive 86 (89.6%), short stature 86 (89.6%), diarrhea 78 (81.3%), unexplainedanemia 78 (81.3%) and clubbing 41 (42.7%). The atypical features noted in our study wereconstipation 21 (21.9%), hypertransaminasemia 38 (39.6 %) and neurological symptoms likeirritability/ behavioral changes 41 (42.7%). Family history of gluten allergy or other autoimmunediseases was present in 29 (30.2%) of patients. Children presented with non-classical symptomswere older than 2 years of age and they showed high prevalence of associated immune andnon immune diseases compared to those in classical group. Conclusion: The knowledge ofvaried behavior of CD may prevent delay in diagnosis. CD must be particularly screened inpatients with unexpected anemia, rickets, clubbing, short stature and in cases with positivehistory in family.


Author(s):  
Khaldoon Thanoon Al-Abachi

Abstract Background Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. Celiac disease (CD), a treatable autoimmune enteropathy, with varied presentations, may simulate clinically symptoms of IBS. The aim of the present study is to screen for CD in patients with IBS diagnosed based on the Rome III criteria. Patients and Methods A cross-sectional study was conducted at a secondary care gastrointestinal unit in Al-Salam General Hospital in Mosul city, Iraq, from November 2015 to October 2016. All patients fulfilling the Rome III criteria for IBS were screened for CD using antitissue transglutaminase IgA antibodies (anti-tTG). Patients who tested positive were subjected to endoscopic duodenal biopsy to confirm the diagnosis of CD. Results A total of 100 patients were included in the present study (58 female and 42 male), the mean age of the participants was 40.8 years old (standard deviation [SD] ± 11.57). Ten patients (10/100, 10%) tested positive for anti-tTG antibodies. Five of the seropositive patients (5/10, 50%) showed positive biopsy results according to the Marsh classification, 3 of whom having diarrhea, and 2 with constipation. Conclusion Positive serology and biopsy results suggestive of CD are common among patients with IBS. Screening patients with IBS for CD is justified.


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