Evaluación cromosómica en pacientes con enfermedad bipolar / Chromosomal evaluation in patients with bipolar disorder

Introducción: Hay pocas noticias sobre estudios de citogenética convencional en pacientes con enfermedad bipolar, no así de estudios moleculares donde se señala la ubicación de genes de susceptibilidad en diversos cromosomas. El objetivo del presente trabajo es evaluar la estructura cromosómica a través de estudios convencionales en pacientes con enfermedad bipolar. Materiales y métodos: Se estudió a 40 pacientes mujeres, con diagnóstico de enfermedad bipolar, con un promedio de edad de 42,65 años (20-67 años). Se utilizó como control a 40 individuos adultos con las mismas edades, sin enfermedad psiquiátrica. Se evaluó la estructura cromosómica mediante estudios convencionales. Resultados: No se observaron alteraciones citogenéticas en las pacientes con enfermedad bipolar, salvo una, en la que en una metafase se evidenció hiperdiploidía con ganancia de los cromosomas 8 y 9. En 26/40 pacientes (65%) y en 4/40 controles (10%) se observó una alta expresión de sitios frágiles (p < 0,05). La ubicación cromosómica de estas fragilidades identifican un patrón de distribución concentrado principalmente en las bandas 1(p32), 1(q21), 1(q22), 2(p12), 2(q31), 3(p14), 3(q21), 3(q25), 7(p14), 14 (q22) y 19(p13). Se apreció que los 54 puntos de ruptura expresados están distribuidos en 17 de los 22 pares de autosomas, y no se observa ninguno en el par de cromosomas sexuales. Conclusiones: Los resultados muestran una frecuencia inesperadamente alta de fragilidad cromosómica en pacientes con enfermedad bipolar, sin que se tenga hasta ahora una explicación lógica para tal alteración, sus consecuencias futuras y su posible relación con el pronóstico y el tratamiento. Se deben llevar a cabo nuevos estudios a fin de dilucidar estos interrogantes

Introduction: The studies on genetic changes are aimed at the molecular level of alterations and have identified the location of the disease susceptible genes, some of wich are shared with schizophrenia. In the bipolar disease, there is little evidence from conventional cytogenetic studies in comparison with other mental pathologies. The purpose of this research was to evaluate the chromosome structure through conventional studies. Materials and methods: This research is prospective and descriptive. 40 female patients with an average age of 42.65 years and 40 adult controls without psychiatric disease were examined. Results: No cytogenetic alterations were observed in the bipolar disorder (BPD) patients, except for one patient in whom one mataphase evidenced hyperdiploidy with a gain of chromosomes 8 and 9. An unexpected high fragile site expression was noted in 26/40 patients (65%) and 4 /40 controls (10%). The chromosomal location of the fragilities observed identifies a distribution pattern concentrated mainly in bands 1(p32), 1(q21), 1(q22), 2(p12), 2(q31), 3(p14), 3(q21), 3(q25), 7(p14), 14 (q22) y 19(p13). It was observed that the 54 breakage points expressed are distributed on 17 of the 22 autosome pairs, with none observed on the sex chromosome pair. Conclusions: The presents results evidence an unexpected high frecuence of chromosomal fragility in BPD patients, without a logic explanation thus far such alteration, its future consecuences and possible relationship with prognosisi and treatment. New studies must be conducted in order to elucidate these questions

[Silent cerebral infarct in patients with sickle cell anemia]. / Infarto cerebral silente en pacientes con anemia falciforme.

INTRODUCTION: Ictus is a complication in patients with Sickle Cell Anemia (SCA), in these is of importance the precocious diagnosis of Silent Cerebral Infarcts (SCI). OBJECTIVE: To determine the incidence of ICS in patients with SCA without neurological symptoms but with images in Cerebral Magnetic Resonance (RMC). PATIENTS: A total of 18 patients (13 males, 5 females) with ages between 5 and 24 years (11.5 4,9), without history of neurological alterations, taken care at the Instituto Hematol gico de Occidente Banco de Sangre, Estado Zulia Venezuela. Methods. A clinical history was made to each patient in addition to detailed physical and neurological examinations that included the state of mind, conscience, language, sensitivity, cranial pairs, muscular force, reflexes, cerebella tests, neck and march. Later, RMC studies were carried out. RESULTS: It was found that 2/18 (11,1%) patients without neurological manifestations showed alterations in the RMC and they were diagnosed as ICS. The findings by images showed asymmetry of lateral ventricles and one of them showed gliosis as well. CONCLUSION: 11,1% of the all the studied cases (2/18) showed SCI, for what is suggested to carry out neurological evaluation and images, once a year, and to offer opportune therapies, for their impact in the function neurocognitive

Infarto cerebral silente en pacientes con anemia falciforme / Silent cerebral infarct in patients with sickle cell anemia

Introducción. El ictus es una grave complicación en pacientes con anemia falciforme (AF) y, dentro de éstos, es de gran importancia el diagnóstico precoz de infarto cerebral silente (ICS).Objetivos. Determinar la incidencia de ICS en pacientes con AF sin síntomas neurológicos, pero con imágenes en la resonancia magnética cerebral (RMC). Pacientes y métodos. Se estudiaron 18 pacientes (13 masculinos y cinco femeninos), con edades entre 5 y 24 años (11,5ñ4,9), sin historia de manifestaciones neurológicas, atendidos en el Instituto Hematológico de Occidente-Banco de Sangre del Estado Zulia, en Venezuela. A cada paciente se le realizó una historia clínica, examen físico y neurológico, que comprendió: estado de conciencia, mental, lenguaje, sensibilidad, pares craneales, fuerza muscular, reflejos, pruebas cerebelosas, cuello y marcha. Posteriormente se realizó RMC. Resultados. 2/18 (11,1 por ciento) pacientes que no tenían manifestaciones clínicas neurológicas evidenciaron alteraciones en la RMC, y se diagnosticaron como ICS. Los hallazgos por imágenes fueron: asimetría de ventrículos laterales y uno de ellos, además, presentó gliosis. Conclusiones. Los presentes resultados muestran que el 11,1 por ciento de todos los casos estudiados (2/18) mostraron ICS, por lo que se sugiere realizar evaluación neurológica e imágenes una vez al año, y ofrecer terapias oportunas, por su impacto en la función neurocognitiva (AU)

[Hypertriglyceridemia following treatment with interferon alpha in essential thrombocythemia]. / Hipertrigliceridemia posterior a terapia con interferon alfa en trombocitemia esencial.

A case of essential thrombocytemia treated with alpha interferon is reported, with hematological remission, but as a side effect hypertriglyceridemia is relevant. It was normalized when alpha interferon was stopped. This is the first case of essential thrombocythemia in Venezuela treated with biological modifiers, with hematological remission, but with hypertriglyceridemia as side effect.

[Antineutrophil cytoplasmic antibodies (ANCA): study of their presence in diseases not associated with arteritis]. / Anticuerpos anticitoplasmáticos de neutrófilos (ANCA): un estudio sobre su presencia en patologías no asociadas con arteritis.

Our study describes the presence of antineutrophil cytoplasmic antibodies (ANCA) in a group of different pathologies comprising 101 patients. Rheumatoid arthritis, systemic lupus erithematosus, idiopatic neutropenia, acute post-streptoccocal glomerulonephritis, minimal change nephrotic syndrome, Downs syndrome, adult periodontitis, tumoral calcinosis, monoartheritis and lipodystrophy were investigated for ANCA, through indirect immunofluorescence and an indirect solid-phase immunoassay (ELISA). Our results show the pattern of distribution of ANCA in the diseases investigated, and allowed us to make the first description of ANCA in diseases such as Downs syndrome, acute post-streptococcal glomerulonephritis and adult periodontitis. The high percentage of reactivity for ANCA detected in adult periodontitis, raise important questions about the possibility of reporting inaccurate percentages of positivity for some diseases, due to the presence of a concurrent disease such as adult periodontitis.

[Hepatitis C in hemophiliac patients in Maracaibo, Venezuela]. / Hepatitis C en pacientes hemofílicos en Maracaibo, Venezuela.

Infection with the hepatitis C virus is one of the risks of transfusion therapy. Considering that in Venezuela, there are not enough data that permit one to establish the frequency of hepatitis C in transfused patients, the purpose of this work was to investigate the presence of anti hepatitis C virus (HCV) antibodies in 56 hemophilic patients from Zulia State, Venezuela. Thirty six (64%) had received fresh frozen plasma and/or cryoprecipitate. Another fourteen (25%) also received lyophilized F VIII or prothrombin complex; six patients (10%) were never transfused. The positive samples (EIA 2nd. generation) were reconfirmed by RIBA-2. Twenty two of the patients were positive for HCV. The presence of anti-HCV antibodies was mainly detected in patients that received more than 10.000 U of the deficient factor. Four of the patients with HCV were also positive for the Human Immunodeficiency Virus (HIV). The results suggest that although the transfusion of blood derivatives carries the risk of HCV transmission, our patients show a low prevalence of this disease, probably due to the infrequent use of clotting factors lyophilizates.

[Epidemiology of von Willebrand's disease in the state of Zulia, Venezuela]. / Epidemiología de la enfermedad de von Willebrand en el Estado Zulia. Venezuela.

The prevalence of von Willebrand's disease (vWd) in Zulia State, Venezuela, was studied among patients referred because of hemorrhagic symptoms. Ninety six cases out of 684 patients aged six months to fifty years, were diagnosed as vWd by measuring FvW, FVIII and Ristocetin cofactor in plasma, along with determinations of the bleeding time and platelet aggregation with ristocetin. Crossed immune electrophoresis and determination of FvW concentration in platelets were also carried out in several patients. The prevalence of the disease in Zulia State was 42.9/10(6) inhabitants and in the metropolitan area of Maracaibo (capital city of Zulia State) was 73/10(6) inhabitants. Eighty eight per cent of the patients were classified as vWd Type I, 2% as vWd Type IIb and 4.1% as Type III. Five cases were not classified. Three patients with Type I vWd also suffered from Autoimmune Thrombocytopenic Purpura, one had a SC hemoglobinopathy and in one patient the disease coexisted with mitral valve prolapse. The need for a proper attention to the patients with vWd is emphasized, as its prevalence in the region is similar to that found in european countries, where a great effort is applied to assure the adequate therapy and social support.

[Fibrinolytic activity of gingival fluid in hemophiliac patients]. / Actividad fibrinolítica del fluído gingival en pacientes hemofílicos.

The purpose of this investigation is to compare the fibrinolytic activity in the gingival fluid, of 32 hemophilic patients with 36 normal subjects. Oral examination was carried out in both groups in order to determine the extent of periodontal disease, using the Ramfjord Periodontal Index. The disease was classified in three grades according to the depth of the gingival crevices: grade I: 0 to 3 mm (Normal Deepness); grade II: from 3 to 6 mm; grade III higher than 6 mm. The fibrinolytic activity was measured in fibrin plates, prepared with thrombin and fibrinogen with and without plasminogen. It was found that the fibrinolytic activity was similar in the groups studied and related to the depth of the gingival crevices, with the exception of hemophilic patients with grade I disease, who showed higher fibrinolytic activity in the fibrin plates with plasminogen, than in the corresponding controls (p less than 0.001). This result could possibly be due to mucosal traumatism during the withdrawal of the sample, which permitted the release of plasminogen activators from the damaged vessels. It is important to mention the absence of grade III periodontal disease in the hemophilic group. The reason for this result could be due to the important bleeding occurring in grade II, which induces the patient to seek immediate professional attention. The above mentioned results suggest that the fibrinolytic activity of the gingival fluid in hemophilic and control patients is directly related to the degree of periodontal disease.

[Acute promyelocytic leukemia in the west of Venezuela]. / Leucemia promielocítica aguda en el occidente de Venezuela.

Twenty-nine cases of acute promyelocytic leukaemia of children and adults are reported. This figure represents 13.61% of all the acute leukaemias and 27.88% of the acute non-lymphoblastic leukaemias found in Zulia State between 1982 and 1987. Those findings mean a higher frequency than reported in other childhood as well as adult series. So, Zulia State appears as an important geographic area for the occurrence of this type of leukaemia.

Uncommon lymphocytic leukemias in patients from the state of Zulia, Maracaibo, Venezuela: I. The coexpression of lymphocytes B-cell and T-cell markers in two patients with chronic lymphocytic leukemia

In this report we describe the coexpression of T- and B-cell markers on lymphocytes from two patients with B-cell, chronic lymphocytic leukemia. The t-cell markers tested included the sheep red blood cell (SRBC) receptor and the T1 and T11 antigens; the B-cell markers included B4, B1, B2 and Dr (la); surface immunoglobulin IgM, IgD, IgG Kappa and lambda chains. Analysis of the result by independent multiplicative probability showed a minimum coexpression of T- and B-markers on 18.83% and 29.15% of the cells from patients 1 and 2, respectively. Two findings stand out from the result reported here. First, the report documents two additional cases of rare form of CLL. Second, the cases were detected in patients from the state of Zulia, Venezuela, where the incidence of chronic lymphocytic leukemia is low