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J L Roessler

Publications and source records attributed to J L Roessler.

6 recordsLinked to original sources
PubMed2001

[Celiac disease in adolescents and young adults. A challenge for gastroenterologists of children and adults].

BACKGROUND: Follow-up of celiac patients in Chile is often interrupted when adolescents are referred to adult gastroenterologists. AIM: To study the evolution of patients with celiac disease when they reach adolescence or young adulthood. PATIENTS AND METHODS: Current adherence to gluten-free diet and its relation to symptoms and circulating antiendomysial antibodies were evaluated in the 58 confirmed celiac patients older than 12 years of age controlled at 3 hospitals in Santiago. RESULTS: Mean age at the moment of this assessment was 17.8 +/- 5 years, 65.5% were women, 12.5% were at nutritional risk (-IDS) while 20% were overweight/obese. Although all patients declared themselves asymptomatic, a focused questionnaire revealed that 26% suffered some symptoms. Only 24.1% followed a strict gluten-free diet. Eight of 20 patients who ate gluten-containing diets had negative antiendomysial antibodies (EMA), three of whom turned positive within 6 to 9 months. In three of four (asymptomatic) cases that accepted a new jejunal biopsy, histology was abnormal. One patient who followed a strict diet had EMA (+) and normal histology. CONCLUSIONS: These results confirm that after childhood, symptoms abate significantly in celiac patients. The observed sensitivity and specificity of EMA makes necessary to maintain small intestinal biopsies as the gold standard for diagnosis and confirmation of the disease.

Adolescent↗
PubMed2000

Celiac disease in a Chilean population carrying Amerindian traits.

BACKGROUND: Although clinical manifestations of celiac disease may change throughout life, clinical, histologic, immunologic, and genetic studies show that there are incomplete forms of this condition, making it difficult to define the disease at a given moment. Because there is no information published in the Latin American-Amerindian population, this study was conducted to assess relations between these parameters in Chileans with celiac disease and their first-degree relatives. METHODS: Sixty-two persons with confirmed celiac disease (mean age, 17.9 +/- 5.1 years; 78.3% females) and 126 relatives (mean age, 27.9 +/- 17.2 years; 65.1% females) were evaluated. Clinical manifestations, antiendomysial antibodies (EMAs), and human leukocyte antigen (HLA) haplotypes were studied in patients. Additionally, jejunal biopsy specimens were assessed (light microscopy) in EMA-positive (EMA+) relatives. RESULTS: Of the patients, 24.1% adhered to a strict gluten-free diet; 26% were oligosymptomatic, and none were malnourished; 45% were EMA+; 13.8% who ingested gluten were EMA-negative (EMA-); one patient consuming a strict gluten-free diet was EMA+. The DQA1*0501 allele was present in the highest frequency (48%, P < 0.0005), whereas combinations of DQ8 were predominant. Of the relatives, 4.8% were EMA+; they had a significantly higher frequency of diarrhea, weight loss, and anorexia (P < 0.03); and all had abnormal histology in biopsy specimens. CONCLUSIONS: After childhood, celiac disease is oligosymptomatic and is often unrecognized by patients. Disease in 13.8% of patients and in 4.8% relatives appeared as incomplete forms of celiac disease. Predominance of DQ8 HLA haplotypes reflects the genetic Spanish-Mapuche heritage of this population.

Adolescent↗
PubMed1999

Genetic differences in HLA-DQA1* and DQB1* allelic distributions between celiac and control children in Santiago, Chile.

Celiac disease is a permanent gluten intolerance strongly associated with HLA class II antigens. The over presentation of particular HLA alleles and haplotypes has been described in several populations. Different lines of evidence obtained during the last years suggest that a particular HLA-DQ heterodimer, encoded by the DQA1*0501 and DQB1*0201 genes in cis or trans conformation, confers the primary disease susceptibility. We report the HLA class II allelic distribution and DQA1/ DQB1 genotypes in 62 Chilean celiac patients compared with 124 control subjects in Santiago, Chile. We found a pronounced increase of the "susceptible" alleles :DQA1*0501 (0.480 vs 0.169, Pc < 0.0005), DQB1*0302 (0.430 vs 0.242, Pc = 0.002) and DQB1*0201 (0.250 vs 0.125, Pc = 0.037) in celiac patients in comparison with control children. As for "protective" alleles, we detected a high frequency of DQA1*0101 (0.310 vs 0.160, Pc = 0.01), DQA1*0201 (0.105 vs 0.010, Pc < 0.0075) and DQB1*0301 (0.250 vs 0.100, Pc = 0.010) in controls. In relation to risk haplotypes, the main combination observed was the conformation DQ8 (DQB1*0302/DQA1*0301) over DQ2 (DQB1*0201/DQA1*0501). In conclusion, results show that celiac disease in Chilean patients is primarily associated with DQ8 conformation. This is concordant with the high frequency of DR4 alleles (in linkage disequilibrium with DQB1*0302) detected in Amerind groups in Chile, where DQB1*0302 is more frequent than DQB1*0201.

Adolescent↗
PubMed1995

[Wilson's disease: a review apropos of a clinical experience in 16 patients].

Wilson's Disease is an inherited disorder of copper metabolism. We report 16 patients (6 males) with the disease; 6 had hepatic involvement exclusively, 4 had neurological involvement, 3 had a neurological and hepatic involvement and 3 were asymptomatic. The age onset was 9 years for hepatic and 17 years for neurologic involvement. The mean delay in diagnosis was 14 months. Chronic hepatitis, cirrhosis and fulminant hepatic failure were the clinical forms of liver disease. Patients with neurologic disorders had behavioral disturbances and extrapyramidal manifestations such as dystonia and parkinsonism. Patients had a good response to penicillamine, except 3 that died of liver complications, in whom the treatment was delayed or discontinued. We conclude that this metabolic disease must be suspected in pubertal children and in adults of less than 30 years old with liver disease of unknown origin or behavioral alterations associated to an extrapyramidal syndrome.

Adolescent↗