Síndrome de Bean y albinismo: reporte del primer caso en Ecuador / Bean Syndrome and Albinism: First Case Report in Ecuador

El síndrome de Blue Rubber Bleb Nevus (BRBNS) o su acrónimo Síndrome de Bean se caracteriza por malformaciones venosas (MV) distribuidas en múltiples zonas anatómicas, con predominio en piel y tracto gastrointestinal (GI). La sintomatología se manifesta comúnmente con episodios hemorrágicos y consecuente anemia crónica secundaria por défcit. Se presenta el caso clínico de una paciente albina de sexo femenino de 68 años de edad, quien acudió por dolor abdominal agudo más rectorragia crónica, al realizar el examen físico llama la atención la presencia de malformaciones venosas (MV) caracterizadas por nódulos azulados, compresibles y heterogéneos, localizados en labio inferior, mentón, región perianal y extremidades, además de dolor a la palpación en hipocondrio derecho. El análisis de laboratorio reveló valores de hemoglobina y hematocrito bajos y otros parámetros sugerentes de anemia por défcit de hierro, en el reporte de colonoscopia se lograron evidenciar múltiples malformaciones venosas (MV), diseminadas con predominio rectal, el diagnóstico fue compatible con Síndrome de Bean por la asociación de MV en piel y tracto Gastrointestinal, además de anemia crónica secundaria. El manejo fue clínico sintomático y quirúrgico paliativo, con una evolución favorable. La asociación de albinismo y el síndrome de Bean no están reportadas en la literatura médica internacional, considerándose este el primer caso en Ecuador como una patología no muy frecuente, pero con complicaciones secundarias importantes. Se debería incluir este síndrome como una causa de malformaciones venosas inocuas, sangrado digestivo, anemia crónica y efectos oclusivos de vísceras huecas.

Blue Rubber Bleb Nevus syndrome (BRBNS) or its acronym Bean syndrome is characterized by venous malformations (MV) distributed in multiple anatomical areas, predominantly in the skin and gastrointestinal (GI) tract. Symptomatology is commonly manifested with hemorrhagic episodes and consequent chronic secondary anemia due to defcit. We present the clinical case of a female albino patient of 68 years of age, who came for acute abdominal pain to this we add a chronic rectorrhagia, when performing the physical examination, the presence of venous malformations (MV) characterized by bluish, compressible and heterogeneous nodules, located in the lower lip, chin, perianal region and extremities, as well as pain on palpation in the right hypochondrium. The laboratory analysis revealed low hemoglobin and hematocrit values and other parameters suggestive of iron defciency anemia, in the colonoscopy report multiple venous malformations (MV) were disseminated, disseminated with rectal predominance, the diagnosis was compatible with Bean Syndrome by the association of MV in skin and Gastrointestinal tract and secondary chronic anemia. The management was clinical symptomatic and palliative surgery, with a favorable evolution. The association of albinism and Bean syndrome are not reported in the international medical literature, considering this the frst case in Ecuador as a not very frequent pathology but with important secondary complications, this syndrome should be included as a cause of harmless venous malformations, digestive bleeding, chronic anemia and occlusive effects of hollow viscera.

DTNBP1 gene is associated with some symptom factors of schizophrenia in Chinese Han nationality / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To study the association of DTNBP1 gene with some symptom factors of schizophrenia.</p><p><b>METHODS</b>A total of 285 unrelated schizophrenic individuals were recruited from December 2004 to January 2009 for genetic analysis, and their symptom factors were assessed based on the Positive and Negative Syndrome Scale (PANSS). The quantitative trait test was performed by the UNPHASED program (version 3.0.12) to investigate the association between scored positive and negative symptoms and the single nucleotide polymorphisms (SNPs) in DTNBP1 gene.</p><p><b>RESULTS</b>The quantitative trait test showed allelic association of rs909706 with the excitement symptom of schizophrenia (P<0.05, adjusted by 10,000 permutations), while the genotype C/G of rs2619539 with a negative symptom, lack of spontaneity and flow of conversation (P<0.05, adjusted by 10,000 permutations).</p><p><b>CONCLUSION</b>DTNBP1 variations are possibly associated with some symptoms of schizophrenia, which could partly explain the relationship between the susceptibility gene DTNBP1 and that disease.</p>

Advances in the studies of the dysbindin gene in schizophrenia / 中华医学遗传学杂志

Recent reports indicate that the dysbindin gene located on chromosome 6p22.3 is a major susceptibility gene for schizophrenia. In the brain, the dysbindin gene may influence glutamatergic neurotransmission by multiple post- and pr- synaptic mechanisms. This paper reviews the research progress on the dysbindin gene in schizophrenia, including the dysbindin gene and its product, the possible pathogenic mechanisms, the association study of the dysbindin gene with schizophrenia, and the cognitive decline caused by the dysbind in variations.

Advances in molecular genetics of schizophrenia / 中国医学科学院学报

Schizophrenia (MIM 181500) is a complex disorder affecting approximately 1% of the population worldwide. Epidemiologic evidences, together with recent linkage and association studies, have clearly demonstrated the high heritability of schizophrenia (up to 80%). Uncovering the genetic mechanism of schizophrenia has became one of the greatest challenges for both psychiatry and genetics. In recent years, remarkable advances in the genetics of this disorder has been achieved with the rapid growth of human genome information and experiment technologies. Several candidate genes within some of the best-supported linkage regions have been reported and, more importantly, replicated. Moreover, these genes present a significant connection in the signaling pathways implicated in the development of schizophrenia, especially NMDA receptor-mediated glutamate transmission. In this review, we summarize the recent advances in the genetics of schizophrenia, focusing particularly on linkage disequilibrium analysis and the latest understanding of the neurobiology of the disorder.