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1.
Methods Cell Biol ; 179: 113-126, 2023.
Article in English | MEDLINE | ID: mdl-37625869

ABSTRACT

Accurate celiac disease (CD) diagnosis must be performed in individuals following a gluten containing diet. Diagnostic procedures for individuals already on a gluten-free diet (GFD) avoiding long gluten reintroductions are still challenging. To deal with this issue, we developed an accurate but simple method that requires only a 3-day gluten challenge and circumvents the main limitations of previously suggested proposals such as requirement of specific peptides and unusual specialized lab facilities or high cost. In an attempt to standardize this methodology to be used in daily clinical practice, we describe here an optimized protocol for assessing activated gut-homing CD8+ T cells in blood combined with a short gluten challenge. Details about the amount and type of gluten antigen and the starting material are included, as well as the strategy to easily characterize and identify the cells of interest using flow cytometry. This methodology constitutes a diagnostic tool for CD diagnosis of high specificity and sensitivity for seropositive disease (>95%) as an alternative to long-term gluten challenge and open new possibilities to test the response to gluten in research and clinical trials.


Subject(s)
CD8-Positive T-Lymphocytes , Glutens , Humans , Flow Cytometry
2.
Rev Esp Quimioter ; 34(3): 220-227, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33926180

ABSTRACT

OBJECTIVE: Main objective was whether the combination of C-Reactive Protein (CRP) and Alvarado Score (AS) increase the diagnosis accuracy of AS among 2-to-20-year-old patients with suspected acute appendicitis presenting to Emergency Departments. METHODS: This is a secondary analysis of prospective cohort study consecutively including all patients from 2 to 20 years of age attended for suspected acute appendicitis in 4 Spanish Emergency Departments during 6-month period. We collected demographic, clinical, analytic and radiographic, and surgical data. AS categories were retrospectively calculated as low (0-4 points), intermediate (5-6 points) or high (7-10 points). The cut-off levels were >0.5 mg/dl for CRP. The outcome was diagnosis of acute appendicitis within 14 days of the index visit. RESULTS: A total of 331 patients with suspected of acute appendicitis (mean age 11.8 (SD 3.8) years; 52.9% males) were recruited. According to AS, 108 (32.6%) were at low risk, 76 at (23.0%) intermediate risk and 147 (44.4%) at high risk of acute appendicitis. One hundred and sixteen (35.0%) cases had confirmed histopathological diagnosis of acute appendicitis. The AUCs of ROC were 0.76 (0.70-0.81) for AS and 0.79 (95% CI 0.75-0.84) for CRP-AS being the difference statistically significant (p=0.003). The CRP for diagnosis acute appendicitis in low risk AS group had negative predictive value of 95.8% (95%CI 87.3-98.9) and likelihood ratio negative of 0.4 (95%CI 0.2-1.0).. CONCLUSIONS: CRP-AS has shown to increase the diagnostic accuracy of AS for acute appendicitis. This approach may be useful to rule out the diagnosis of acute appendicitis in paediatric patients attended for abdominal pain suggestive of acute appendicitis.


Subject(s)
Appendicitis , C-Reactive Protein , Acute Disease , Adolescent , Adult , Appendicitis/diagnosis , C-Reactive Protein/analysis , Child , Child, Preschool , Emergency Service, Hospital , Female , Humans , Male , Prospective Studies , Retrospective Studies , Sensitivity and Specificity , Young Adult
4.
PLoS One ; 11(2): e0146276, 2016.
Article in English | MEDLINE | ID: mdl-26859134

ABSTRACT

Celiac disease (CD) is developed after gluten ingestion in genetically susceptible individuals. It can appear at any time in life, but some differences are commonly observed between individuals with onset early in life or in adulthood. We aimed to investigate the molecular basis underlying those differences. We collected 19 duodenal biopsies of children and adults with CD and compared the expression of 38 selected genes between each other and with the observed in 13 non-CD controls matched by age. A Bayesian methodology was used to analyze the differences of gene expression between groups. We found seven genes with a similarly altered expression in children and adults with CD when compared to controls (C2orf74, CCR6, FASLG, JAK2, IL23A, TAGAP and UBE2L3). Differences were observed in 13 genes: six genes being altered only in adults (IL1RL1, CD28, STAT3, TMEM187, VAMP3 and ZFP36L1) and two only in children (TNFSF18 and ICOSLG); and four genes showing a significantly higher alteration in adults (CCR4, IL6, IL18RAP and PLEK) and one in children (C1orf106). This is the first extensive study comparing gene expression in children and adults with CD. Differences in the expression level of several genes were found between groups, being notorious the higher alteration observed in adults. Further research is needed to evaluate the possible genetic influence underlying these changes and the specific functional consequences of the reported differences.


Subject(s)
Celiac Disease/genetics , Gene Expression Profiling , Adult , Case-Control Studies , Celiac Disease/immunology , Child , Genetic Loci/genetics , Genetic Predisposition to Disease/genetics , Humans , Th17 Cells/immunology
6.
Int J Clin Pharmacol Ther ; 48(3): 230-2, 2010 Mar.
Article in English | MEDLINE | ID: mdl-20197018

ABSTRACT

Familial Adenomatous Polyposis (FAP) is an autosomal dominant disorder characterized by colonic polyps in early adult life. Children with this disease are at risk for colonic cancer, so prophylactic colectomy is the standard treatment to prevent this complication. Chemoprevention experience with NSAIDs in children is exceptional. This case report describes our experience with Celecoxib, a COX-2 inhibitor, in a 12-year-old boy.


Subject(s)
Adenomatous Polyposis Coli/drug therapy , Cyclooxygenase 2 Inhibitors/therapeutic use , Pyrazoles/therapeutic use , Sulfonamides/therapeutic use , Celecoxib , Child , Humans , Male , Treatment Outcome
7.
Eur J Pediatr ; 167(10): 1213-5, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18183421

ABSTRACT

Hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch syndrome, dominantly inherited, is characterized by the development of a variety of cancers due to germline mutations in DNA mismatch repair genes (MMR). This syndrome was diagnosed in a 15-year-old boy because his father and grandmother were also found to have the same kind of cancer. Microsatellite instability prompted a search for germline mutations in the MLH1, MSH2, MSH6, and PMS2 genes. Use of immunohistochemical staining for MMR proteins, genomic sequencing, and deletion studies, evidenced MSH2 axonal deletion. Neoplastic lesions of colon are most often encountered in the adult population but can, on rare occasions, be found in younger patients. We would like to emphasize the importance of suspecting Lynch syndrome and performing genetic studies, even in young patients, when there is a family history of colorectal cancer.


Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Adenosine Triphosphatases/genetics , Adolescent , Arabidopsis Proteins/genetics , DNA Repair Enzymes/genetics , DNA-Binding Proteins/genetics , Humans , Male , Microsatellite Instability , Mismatch Repair Endonuclease PMS2 , MutL Protein Homolog 1 , MutS Homolog 2 Protein/genetics , Pedigree
10.
Gynecol Endocrinol ; 14(4): 245-7, 2000 Aug.
Article in English | MEDLINE | ID: mdl-11075293

ABSTRACT

Autoimmune progesterone dermatitis is a rare cutaneous disorder characterized by recurrent and cyclic skin eruption with variable morphology, occurring during the luteal phase. A case of autoimmune progesterone urticaria in a 47-year-old woman is reported. An intradermal progestin test revealed a strong reactivity against this hormone. Treatment with tamoxifen and leuprolide acetate induced only a partial remission of urticaria. Bilateral oophorectomy was performed with absolute clearing of cutaneous lesions.


Subject(s)
Progesterone/pharmacology , Urticaria/chemically induced , Urticaria/diagnosis , Autoimmune Diseases/diagnosis , Diagnosis, Differential , Female , Humans , Intradermal Tests , Middle Aged , Ovariectomy , Urticaria/surgery
13.
Respiration ; 50 Suppl 2: 258-61, 1986.
Article in English | MEDLINE | ID: mdl-2951818

ABSTRACT

Until now very few studies have been performed on the prevention of exercise-induced asthma (EIA) in children with ipratropium bromide + fenoterol. This is why we decided to study 30 children aged between 6 and 15 years, whose EIA was confirmed by a test including a 6-min free race on day 1 of the study. The criterion was a decrease of more than 20% of the basal values of forced expiratory volume in 1 s (FEV1) or FMF. Children whose FEV1 or FMF baseline values were under 60% of those expected according to Polgard tables were excluded. Three tests were performed, the first to determine EIA, the second was performed 72 h later after inhalation of placebo. 72 h after day 2 the patients returned in order to repeat the test, but this time, aerosol therapy with the combination ipratropium + fenoterol was applied prior to the race. The dosage of the combination was 1 puff of aerosol per 10 kg body weight, up to a maximum of 4 puffs. Each puff of the combination contains 0.02 mg of ipratropium bromide and 0.05 mg fenoterol. Functional assessment of children was carried out by means of forced spirometry. There were no significant differences between the placebo group and the group which received no medication, but there was a significant difference between the treated group and the other two, not only in the FEV1 and FMF values but also in forced vital capacity TEST.(ABSTRACT TRUNCATED AT 250 WORDS)


Subject(s)
Asthma, Exercise-Induced/prevention & control , Asthma/prevention & control , Atropine Derivatives/therapeutic use , Fenoterol/therapeutic use , Ipratropium/therapeutic use , Adolescent , Asthma, Exercise-Induced/physiopathology , Child , Drug Combinations , Female , Forced Expiratory Volume , Humans , Male , Vital Capacity
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