Diagnosis of Whipple's disease using molecular biology techniques.

The diagnosis of Whipple's disease (WD) is based on the existence of clinical signs and symptoms compatible with the disease and in the presence of PAS-positive diastase-resistant granules in the macrophages of the small intestine. If there is suspicion of the disease but no histological findings or only isolated extraintestinal manifestations, species-specific PCR using different sequences of the T. whippleii genome from different tissue types and biological fluids is recommended.This study reports two cases: the first patient had diarrhea and the disease was suspected after an endoscopic examination of the ileum, while the second patient had multi-systemic manifestations,particularly abdominal, thoracic, and peripheral lymphadenopathies. In both cases, the diagnosis was confirmed using molecular biology techniques to samples from the small intestine or from a retroperineal lymph node, respectively.

Diagnóstico de la enfermedad de Whipple por técnicas de biología molecular. Aportación de dos casos / Diagnosis of Whipple's disease using molecular biology techniques

El diagnóstico de la enfermedad de Whipple (EW) se basa en la existencia de una clínica compatible y en el hallazgo de gránulos PAS +, diastasa resistente, en los macrófagos del intestino delgado. Si hay sospecha de enfermedad pero no evidencia histológica o manifestaciones extraintestinales aisladas se precisa el estudio mediante PCR específicas de distintas secuencias del genoma de T. whippleii en tejidos y fluidos biológicos. Se presentan dos casos, uno con diarrea en el que se sospechó la enfermedad tras ileoscopia y otro con manifestaciones multisistémicas, sobre todo adenopatías abdominales, torácicas y periféricas. En ambos, el estudio molecular del intestino delgado y de una linfadenopatía retroperitoneal respectivamente confirmó el diagnóstico(AU)

The diagnosis of Whipple’s disease (WD) is based on the existence of clinical signs and symptoms compatible with the disease and in the presence of PAS-positive diastase-resistant granules in the macrophages of the small intestine. If there is suspicion of the disease but no histological findings or only isolated extraintestinal manifestations, species-specific PCR using different sequences of the T. whippleii genome from different tissue types and biological fluids is recommended. This study reports two cases: the first patient had diarrhea and the disease was suspected after an endoscopic examination of the ileum, while the second patient had multi-systemic manifestations, particularly abdominal, thoracic, and peripheral lymphadenopathies. In both cases, the diagnosis was confirmed using molecular biology techniques to samples from the small intestine or from a retroperineal lymph node, respectively(AU)

Características clínicas y moleculares de una familia con síndrome de neoplasia endocrina múltiple tipo 1 / Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome

INTRODUCCIÓN: Los rasgos clínicos del síndrome de neoplasia endocrina múltiple tipo 1 (NEM-1) son: hiperplasia o adenoma de las glándulas paratiroides, adenoma hipofisario y tumores endocrinos gastroenteropancreáticos. Se debe a mutaciones del gen MEN1, localizado en la región q13 del cromosoma 11. El pronóstico de los pacientes depende del crecimiento tumoral y de su potencial metastático.PACIENTES Y MÉTODO: Se revisan las historias clínicas de los miembros de esta familia (6 varones y 2 mujeres) con NEM-1 diagnosticados entre 1995 y 2007 en el Hospital Donostia de San Sebastián. El estudio familiar de todos los pacientes y familiares (19 casos de 2 generaciones) se hizo en dos fases. La primera, mediante técnica de cribado de mutaciones y la segunda, por multiplex ligation-dependent probe amplification (MLPA)para detectar deleciones del gen.RESULTADOS: El cribado de mutaciones no permitió identificar ninguna variante patogénica en el probando de esta familia. El estudio mediante MLPA reveló una deleción que afectaba al exón 1 y 2 del gen MEN1. De los 10 familiares con esta alteración molecular, 8 presentaron algún rasgo fenotipico del síndrome (8 con hiperparatiroidismo, 2 con prolactinomas y 3 con gastrinomas) tras 12 años de seguimiento.CONCLUSIÓN: Se comentan las formas clínicas del síndromeNEM-1 en esta familia y la alteración molecular encontrada. El estudio de deleciones del gen MEN1 debería incorporarse al cribado molecular sistemático

BACKGROUND: The clinical features of multiple endocrineneoplasia type-1 (MEN-1) syndrome are hyperplasia or adenoma of the parathyroid glands, pituitary adenoma and gastroenteropancreatic endocrine tumors. This syndrome isdue to mutations in the MEN1 gene, located on the q13 region of chromosome 11. Prognosis depends on tumoralgrowth and metastatic potential.PATIENTS AND METHOD: We reviewed the medical records ofthe members of a family (6 men and 2 women) with MEN-1syndrome diagnosed between 1995 and 2007 in Hospital Donostia, San Sebastian (Spain). Familial study of all patients and family members (19 cases from 2 generations) was performed in 2 phases. The first phase consisted of mutation screening and the second of multiplex ligation-dependent probe amplification (MLPA) to detect deletions.RESULTS: Screening of mutations identified no pathogenicvariants in the proband of this family. MLPA revealed a deletion affecting exons 1 and 2 of the MEN1 gene. Of the 10 family members with this molecular alteration, 8 had at least one phenotypic feature of this syndrome (hyperparathyroidism in 8, prolactinomas in 2, and gastrinomas in 3) after 12 years of follow-up.CONCLUSION: We discuss the clinical forms of MEN-1 syndrome in this family and the molecular alteration found. Study of MEN1 gene deletions should be incorporated into routine molecular screening

[Molecular and clinical characteristics of a family with Alagille syndrome]. / Características clínicas y moleculares de una familia con síndrome de Alagille.

BACKGROUND AND OBJECTIVE: The Alagille syndrome (AS) is characterized by biliary ductopenia and abnormalities of heart, eyes, face, bones, kidneys and brain with a dominant inheritability. Mutations of Jagged 1 gene are observed in individuals with the full syndrome and/or relatives with little or no phenotypic features. Prognosis of patients depends on the hepatic and cardiovascular involvement. PATIENTS AND METHOD: We present the cases of a woman and her 2 male nephews with AS. We performed a molecular study of the Jagged 1 gene in family members with and without the syndrome. RESULTS: The molecular study detected mutations in the position 2785+2 of TAAG (intron 19) of the Jagged 1 gene in 3 relatives with the full syndrome and in 2 other members with a partial syndrome. Other relatives, without mutation, have some of the phenotypic features of it. CONCLUSIONS: We comment on the clinical forms of AS in this family and the detected mutation. Molecular diagnosis allows to make a genetic counsel.

Características clínicas y moleculares de una familia con síndrome de Alagille / Molecular and clinical characteristics of a family with Alagille syndrome

Fundamento y objetivo: El síndrome de Alagille (SA) se caracteriza por ductopenia biliar y anomalías del corazón, ojos, cara, huesos, riñón y cerebro, junto a una herencia dominante. Las mutaciones del gen Jagged 1 se observan en sujetos con el síndrome completo y/o familiares que tienen pocos o ningún rasgo fenotípico del síndrome. El pronóstico de los pacientes depende de la afectación hepática y cardiovascular. Pacientes y método: Se presentan los casos de una mujer y sus 2 sobrinos (varones) con SA. Se realizó estudio molecular del gen Jagged 1 en los miembros de la familia con síndrome y sin él. Resultados: El estudio molecular detectó mutaciones en la posición 2785+2 del TAAG (intrón 19) del gen Jagged 1 en 3 familiares que tienen el síndrome completo y en otros 2 casos con síndrome parcial. Otros familiares, sin mutación, presentan alguno de los rasgos fenotípicos del síndrome. Conclusiones: Se comentan las formas clínicas del SA en esta familia y la mutación encontrada. El diagnóstico molecular permite realizar un consejo genético

Background and objective: The Alagille syndrome (AS) is characterized by biliary ductopenia and abnormalities of heart, eyes, face, bones, kidneys and brain with a dominant inheritability. Mutations of Jagged 1 gene are observed in individuals with the full syndrome and/or relatives with little or no phenotypic features. Prognosis of patients depends on the hepatic and cardiovascular involvement. Patients and method: We present the cases of a woman and her 2 male nephews with AS. We performed a molecular study of the Jagged 1 gene in family members with and without the syndrome. Results: The molecular study detected mutations in the position 2785+2 of TAAG (intron 19) of the Jagged 1 gene in 3 relatives with the full syndrome and in 2 other members with a partial syndrome. Other relatives, without mutation, have some of the phenotypic features of it. Conclusions: We comment on the clinical forms of AS in this family and the detected mutation. Molecular diagnosis allows to make a genetic counsel

[Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome]. / Características clínicas y moleculares de una familia con síndrome de neoplasia endocrina múltiple tipo 1.

BACKGROUND: The clinical features of multiple endocrine neoplasia type-1 (MEN-1) syndrome are hyperplasia or adenoma of the parathyroid glands, pituitary adenoma and gastroenteropancreatic endocrine tumors. This syndrome is due to mutations in the MEN1 gene, located on the q13 region of chromosome 11. Prognosis depends on tumoral growth and metastatic potential. PATIENTS AND METHOD: We reviewed the medical records of the members of a family (6 men and 2 women) with MEN-1 syndrome diagnosed between 1995 and 2007 in Hospital Donostia, San Sebastian (Spain). Familial study of all patients and family members (19 cases from 2 generations) was performed in 2 phases. The first phase consisted of mutation screening and the second of multiplex ligation-dependent probe amplification (MLPA) to detect deletions. RESULTS: Screening of mutations identified no pathogenic variants in the proband of this family. MLPA revealed a deletion affecting exons 1 and 2 of the MEN1 gene. Of the 10 family members with this molecular alteration, 8 had at least one phenotypic feature of this syndrome (hyperparathyroidism in 8, prolactinomas in 2, and gastrinomas in 3) after 12 years of follow-up. CONCLUSION: We discuss the clinical forms of MEN-1 syndrome in this family and the molecular alteration found. Study of MEN1 gene deletions should be incorporated into routine molecular screening.

Littoral-cell angioma of the spleen: a case report.

Littoral-cell angioma (LCA) is a primary splenic vascular tumor that arises from the normal littoral cells lining the sinus channels of the splenic red pulp. We report a case of LCA of the spleen, which has been infrequently communicated in the literature. A 76-year-old man with a 2-wk history of weight loss, abdominal pain and changes in bowel habits was admitted to our hospital. Imaging studies (CT and MRI) showed multiple lesions in the spleen. Splenectomy was performed. Lining cells were positive for CD31/CD68 markers. Our case was associated with a serrated colonic adenoma. LCA is a benign vascular tumor of the spleen that needs to be included in the differential diagnosis of multiple splenic nodules.

Síndrome de Sweet y artritis en una paciente con colitis ulcerosa / Sweet’s syndrome and arthritis in a patient with ulcerative colitis

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Linfohistiocitosis hemofagocítica desencadenada por el virus de Epstein-Barr en adulto con enfermedad de Still / Hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus in an adult with Still disease

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Sonographic findings of hepatic lesions in human fascioliasis.

PURPOSE: The aim of this retrospective study was to analyze the sonographic features of hepatic lesions in patients with fascioliasis to help determine the utility of sonography in diagnosing this disorder in patients from areas in which Fasciola hepatica infestation is endemic. METHODS: Seven patients with acute-phase (hepatic) fascioliasis had been identified among a previously reported series of 37 patients with fascioliasis who had been evaluated sonographically at Donostia Hospital in San Sebastián (Guipúzcoa), Spain. The 4 men and 3 women ranged in age from 29 to 69 years (mean, 49 years). A history of ingestion of watercress had been confirmed in 6 of the patients. RESULTS: Sonographically, the hepatic lesions appeared as focal areas of increased echogenicity in the right lobe (2 cases), multiple nodular or irregular lesions of variable echogenicity, ranging from 5 to 25 mm in diameter, in both lobes (4 cases), and a single 6-cm complex mass in the right hepatic lobe (1 case). Therapy with dehydroemetine, praziquantel, or bithionol resulted in complete remission, although 2 patients required an additional treatment cycle. One patient also underwent surgery. CONCLUSIONS: Sonography can be useful in the detection and follow-up of hepatic lesions in human fascioliasis and can facilitate the diagnosis of this condition, particularly in areas where it is endemic.

Hemorragia cerebral en el síndrome de Churg-Strauss / Cerebral hemorrhage in Churg-Strauss syndrome

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