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1.
Psiquiatr. biol. (Ed. impr.) ; 12(3): 89-94, mayo-jun. 2005. ilus, tab
Article in Es | IBECS | ID: ibc-038670

ABSTRACT

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


Subject(s)
Female , Adult , Aged , Middle Aged , Humans , Bipolar Disorder/genetics , Cytogenetic Analysis/methods , Chromosome Fragility/genetics , Case-Control Studies , Diploidy , Genetic Predisposition to Disease
3.
Rev Neurol ; 35(8): 716-9, 2002.
Article in Spanish | MEDLINE | ID: mdl-12402221

ABSTRACT

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


Subject(s)
Anemia, Sickle Cell/complications , Cerebral Infarction/etiology , Adolescent , Cerebral Infarction/pathology , Child , Female , Gliosis/etiology , Gliosis/pathology , Humans , Lateral Ventricles/pathology , Magnetic Resonance Imaging , Male , Neuropsychological Tests
4.
Rev. neurol. (Ed. impr.) ; 35(8): 716-719, 16 oct., 2002.
Article in Es | IBECS | ID: ibc-22379

ABSTRACT

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)


Subject(s)
Child , Adolescent , Male , Female , Humans , Lateral Ventricles , Cerebral Infarction , Anemia, Sickle Cell , Magnetic Resonance Imaging , Gliosis , Neuropsychological Tests
5.
Rev Med Chil ; 129(10): 1121-9, 2001 Oct.
Article in Spanish | MEDLINE | ID: mdl-11775338

ABSTRACT

BACKGROUND: Neonates on exclusive breast feeding that do not receive vitamin K at birth are at higher risk hemorrhagic disease of the newborn. AIM: To compare the effect of oral or intramuscular administration of vitamin K1 (VK1), on clotting factors II, VII, IX, X and PIVKA II, in children until the 60 days of age with exclusive breast feeding or mixed feeding. PATIENTS AND METHODS: Forty healthy full term infants, distributed in two groups, A: 20 with mixed feeding (formula-feeding and breast-feeding) and B: 20 with exclusive breast feeding, were studied. Nine infants of each group received 1 mg of VK1 intramuscularly and eleven 2 mg VK orally 5 ml of cord blood was collected initially from each infant. Venous blood samples were taken on 15, 30 and 60 days of age. RESULTS: All factors increased in a progressive form reaching levels over 50% at 60 days of age, in both groups. PIVKA II decreased significantly during the study period (p < 0.01). Factor II increased more in children with mixed feeding that received intramuscular vitamin K, than in the rest of study groups. No other differences between groups were observed. No infant had an abnormal bleeding during the study period. CONCLUSIONS: Oral administration of vitamin K is as effective as the intramuscular route in the prevention of the hemorrhagic disease of the newborn.


Subject(s)
Biomarkers , Blood Coagulation Factors/metabolism , Breast Feeding , Protein Precursors/metabolism , Vitamin K Deficiency Bleeding/prevention & control , Vitamin K/administration & dosage , Administration, Oral , Blood Coagulation Factors/drug effects , Factor IX/metabolism , Factor VII/metabolism , Factor X/metabolism , Female , Humans , Infant , Infant, Newborn , Injections, Intramuscular , Male , Prothrombin/metabolism , Vitamin K Deficiency/drug therapy
6.
Invest Clin ; 41(2): 105-16, 2000 Jun.
Article in Spanish | MEDLINE | ID: mdl-10961046

ABSTRACT

The aim of the present study was to investigate the effect of the treadmill electrocardiogram (TMECG) on thrombotic risk factors in hypertensive patients and normal individuals. Twenty patients, 10 males and 10 females between 40 and 55 years of age, were studied and twenty normal persons of matching sex and age were chosen as controls. Blood samples were obtained before and immediately after the TMECG. Platelet counts and function as well as fibrinogen and von Willebrand factor (vWF) levels were determined in each sample. A significant increase in platelet number and aggregation with collagen and ristocetin was observed in all groups after the TMECG. Fibrinogen and von Willebrand factor levels were also significantly increased in all individuals. It is known that platelets play an important role in the formation of thrombi and the enhancement in their number and activity, in certain circumstances, might favor the development of a thrombotic episode. Elevated fibrinogen concentrations are considered an independent cardiovascular risk factor. The above changes in patients with other predisponent factors for cardiovascular events, such as arterial hypertension, enhances the possibility of a vasooclusive episode. It is recommended therefore, that before suggesting a physical activity to a hypertensive patient, other parameters, such as age, previous training and the existence of other cardiovascular risk factors should be considered.


Subject(s)
Electrocardiography , Exercise Test , Fibrinogen/analysis , Hypertension/blood , Platelet Aggregation , von Willebrand Factor/analysis , Adult , Female , Humans , Male , Middle Aged , Risk Factors
7.
Invest Clin ; 41(1): 29-36, 2000 Mar.
Article in Spanish | MEDLINE | ID: mdl-10758697

ABSTRACT

The Activated Protein C Resistance (APCR) is the common phenotype of Factor V Leiden (arg506gln), which is considered as a thrombotic risk factor. The aim of this study was to determine the prevalence of APCR and its association with Factor V Leiden in indian and black populations from Zulia State in western Venezuela. Blood samples were taken from 80 Yukpa indians from Sierra de Perijá and 91 black individuals from the southeast of Lago de Maracaibo. APCR was determined by the Dahlback's method with the modifications of Jorquera et al. and Trossaert et al. The results were expressed as n-APC-SR (positive value < or = 0.75). Factor V Leiden genotype was identified by PCR and restriction analysis standard methods at the Institute of Human Genetics (Greifswald, Germany). No significative difference was found between n-APC-SR from indians (mean +/- SEM 1.13 +/- 0.02, CI 95% = 1.07-1.19) and black people (1.07 +/- 0.02, CI 95% = 1.03-1.12). APCR prevalence from indians was 1.25% (1 out of 80) who was heterozygote case for F V Leiden and 4.4% (4 out of 91) from blacks (one case was heterozygous for F V Leiden). No thrombotic event personal or familial was demonstrate. Our data represent the first report related to the association between APCR and F V Leiden in venezuelan indian and black individuals. APCR without the Factor V Leiden expression suggest a different type of mutation in the Factor V molecule. In spite of high endogamy in the indian group, we can not discard the role of foreign genes in both populations. The determination of the prevalence of this phenotype and its molecular marker in various ethnic groups is important for the interpretation of their role as risk factors for thrombotic disease.


Subject(s)
Activated Protein C Resistance/genetics , Black People/genetics , Indians, South American/genetics , Activated Protein C Resistance/epidemiology , Factor V/genetics , Humans , Mutation , Phenotype , Prevalence , Thrombosis/epidemiology , Thrombosis/genetics , Venezuela/epidemiology
8.
Invest Clin ; 40(3): 191-202, 1999 Sep.
Article in Spanish | MEDLINE | ID: mdl-10531752

ABSTRACT

The purpose of the study was to investigate the frequency of nutritional anemia among western venezuelan indians. Three hundred and ninety nine Yucpa indians from the communities of Aroy, Marewa and Peraya were studied. The concentrations of hemoglobin, serum iron, total iron binding capacity, serum ferritin, serum folate and serum vitamin B12 and the frequency of anemia and nutrient deficiency were determined. Anemia was found in 71.7% of people from Aroy, 52.25 from Marewa and in 74.4% from Peraya. No nutrient deficiencies were found in 48.1% of cases with anemia, while iron deficiency anemia was present in 39% of the population studied, and folate and or vitamin B12 deficiency were associated with anemia in only 12.9% of cases. The high frequency of anemia, unrelated to nutrient deficiency, among the Yucpa indians, is attributed to the prevalence of chronic infectious diseases such as hepatitis and parasitic infections, as well as skin and respiratory infectious processes.


Subject(s)
Anemia/epidemiology , Indians, South American , Adolescent , Anemia/etiology , Anemia, Iron-Deficiency/epidemiology , Anemia, Iron-Deficiency/etiology , Child , Child, Preschool , Female , Humans , Infant , Male , Nutrition Disorders/complications , Nutrition Disorders/epidemiology , Prevalence , Venezuela/epidemiology
9.
Sangre (Barc) ; 44(1): 19-23, 1999 Feb.
Article in Spanish | MEDLINE | ID: mdl-10323092

ABSTRACT

PURPOSE: To identify carrier females in segregant families of haemophilia A from Zulia state-Venezuela. PATIENTS AND METHODS: The polymorphisms' analysis linked to the gene, independently of the mutation nature is the most suitable method to identify carriers, because it permits to track the mutated gene. This study is comprised of 139 ADN samples distributed in 20 families affected by haemophilia A. The diagnosis of carrier was made by polymerase chain reaction (PCR), a fragment of 142 pb corresponding to intron 18 of the factor VIII gene, which shows a restriction polymorphism for the Bcl I enzyme. RESULTS: The frequency of the Bcl I alleles in the 43 unrelated individuals was 0.35 and 0.65 for the 142 pb and 99 + 43 pb, respectively. In the 35 women that required diagnosis, we were able to establish the carrier status for 11, and 4 were excluded to be. CONCLUSIONS: The Bcl I polymorphism at the FVIII gene was useful in the 43% (15/35) of the women that required diagnosis. It's possible to identify carriers for haemophilia A in most of the families from Zulia state-Venezuela employing several polymorphisms at the Factor VIII gene.


Subject(s)
Factor VIII/genetics , Genes, bcl-1/genetics , Genetic Carrier Screening/methods , Hemophilia A/genetics , Female , Humans , Male , Pedigree , Polymorphism, Genetic , Venezuela
10.
Invest Clin ; 39(2): 77-83, 1998 Jun.
Article in Spanish | MEDLINE | ID: mdl-9707919

ABSTRACT

The purpose of the present work was to observe local hemostatic function during dental surgery in patients under oral anticoagulant therapy with an INR between 1.7 and 2.5. Thirty seven dental treatments were performed in 15 patients. Group A: nineteen dental treatments (13 scalings, 1 root canal therapy and 5 dental extractions), treated with oral rinse with tranexamic acid (250 mg dissolved in 10 ml of water). Group B: eighteen dental procedures (13 scaling, 1 root canal therapy and 14 dental extractions), in which oral rinse was utilized. Antibiotics were indicated for those patients with root canal therapy or with signs of infection. A cool soft diet was recommended to all patients during the three days following the surgical procedure. Only in five (13.5%) dental extractions (1 from group A and 4 from B) bleeding prolonged was observed, however periodontal disease was also present in those patients hone of them required blood products or withdrawal of the anticoagulant. The results suggest that mouth washing with tranexamic acid prevents excessive oral bleeding in patients treated with oral anticoagulants with an INR between 1.7 and 2.5.


Subject(s)
Anticoagulants/adverse effects , Antifibrinolytic Agents/therapeutic use , Blood Loss, Surgical/prevention & control , Dental Scaling , Gingival Hemorrhage/prevention & control , Hemostasis, Surgical/methods , Mouthwashes , Postoperative Hemorrhage/prevention & control , Root Canal Therapy , Tooth Extraction , Tranexamic Acid/therapeutic use , Warfarin/adverse effects , Antifibrinolytic Agents/administration & dosage , Blood Coagulation Disorders/complications , Blood Coagulation Disorders/drug therapy , Drug Evaluation , Gingival Hemorrhage/chemically induced , Gingival Hemorrhage/etiology , Gingivitis/complications , Humans , Periapical Abscess/complications , Periodontitis/complications , Postoperative Hemorrhage/chemically induced , Postoperative Hemorrhage/etiology , Tranexamic Acid/administration & dosage
11.
Invest Clin ; 38(4): 191-201, 1997 Dec.
Article in English | MEDLINE | ID: mdl-9450358

ABSTRACT

The hematological status of 406 Bari indians from two communities was studied. One hundred and seventy nine individuals were from Campo Rosario a village located in a low arid plain south to the Perijá mountain range and 287 were from Saimadoyi, a fertile valley in the heart of the mountain. Anemia was found in 54% and 31% of the people from Campo Rosario and Saimadoyi respectively. Low serum iron was present in 28% of the population in both communities while low serum ferritin levels were encountered in 20% of the population from Campo Rosario and 5% of the people from Saimadoyi. A high prevalence of serum folate and vitamin B12 deficiency (91% and 64% respectively) was found in Campo Rosario, in contrast only 5% of the population from Saimadoyi had low folate and none were vitamin B12 deficient. While there was a positive significant correlation between hemoglobin and serum iron concentrations (r = 0.517, p < 0.001), no significative correlation was found between the other parameters studied. The high prevalence of anemia and nutrient deficiency among the Bari indians, can be attributed to inadequate diets and the varied diseases encountered in the population.


Subject(s)
Anemia/epidemiology , Folic Acid Deficiency/epidemiology , Indians, South American , Iron Deficiencies , Nutrition Disorders/epidemiology , Vitamin B 12 Deficiency/epidemiology , Adolescent , Adult , Aged , Anemia/blood , Anemia, Hypochromic/blood , Anemia, Hypochromic/epidemiology , Antibodies, Bacterial/blood , Child , Child, Preschool , Diet , Ethnicity , Female , Ferritins/blood , Folic Acid Deficiency/blood , Helicobacter Infections/epidemiology , Helicobacter Infections/immunology , Helicobacter pylori/immunology , Humans , Infant , Iron/blood , Male , Middle Aged , Nutrition Disorders/blood , Parasitic Diseases/epidemiology , Prevalence , Venezuela/epidemiology , Vitamin B 12 Deficiency/blood
12.
Invest Clin ; 36(3): 117-30, 1995 Sep.
Article in Spanish | MEDLINE | ID: mdl-7548305

ABSTRACT

Concentrations of hemoglobin and serum nutrients that participate in the erythropoiesis (iron, folic acid and vitamin B12) were studied in 213 adolescents (112 male, 101 female) belonging to a medium income group that assisted at a private secondary educational institution. The purpose of the present work was to observe the hematologic and nutrient status in this group and its relationship with the academic achievement. The level of academic performance was determined using the Final mean grades (0 to 20 points scale) and the Academic Achievement index (A.A.I.) calculated as the ratio of approved courses over the total. A high prevalence of iron (16.6%) and folate (14.2%) deficiency was found in the total group with predominance in the female adolescents. It was noted a relationship between anemic men and A.A.I. (p < 0.05) and no other difference was observed between individuals with nutritional deficiency and their academic achievement. Therefore, when it was established as cut-off point 20 micrograms/L for ferritin, a good correlation was found between iron status and academic achievement index (r = 0.411, p < 0.01). The hematologic and biochemical data were correlated with academic parameters. A positive correlation was obtained between A.A.I. and hemoglobin, total iron binding capacity (TIBC) in males. When using Final mean grades, a positive correlation was shown with folic acid (males) and vitamin B12 (females). This work reveals a high incidence of iron and folate deficiency, specially in the female adolescent group. These findings may be due to a inadequate dietary intake combined with an increase of nutritional requirements and probably parasitic infestation. These factors may contribute to an impairement of the academic achievement. It will be important the assessment of iron and folate status of the adolescent for the normal and integral development of his cognitive and psychomotor functions.


Subject(s)
Folic Acid/blood , Hemoglobins/analysis , Iron/blood , Task Performance and Analysis , Vitamin B 12/blood , Adolescent , Female , Humans , Male , Social Class
13.
Invest Clin ; 36(2): 83-93, 1995 Jun.
Article in Spanish | MEDLINE | ID: mdl-7548303

ABSTRACT

The study was designed to know the effect of oral vitamin K (VK) treatment, on clotting factors II-VII-IX-X and the protein induced by VK absence from factor II (PIVCA II) on full term infants. Seventy healthy newborns were studied and each was randomly placed in one of two groups: Group A, newborns that received human milk and milk formula (mixed feeding)and group B, newborns that were exclusively breast fed. These groups were also divided in two subgroups: I received 2mg of VK1 orally and II (control) did not receive VK. Clotting activity of the coagulation factors and PIVCA II was determined from blood plasma obtained immediately after birth and 48 hours after VK administration. Basal activity of the factors analyzed was similar in all groups with values ranging from 25% to 40%. After 48 hours a significant increase in all factors studied and a decrease of PIVKA II was observed in those children who received oral VK. The results suggest that oral VK effectively increases VK dependent factors and prevents the risk of hemorrhagic disease in the newborn, with the advantage of being less traumatic and less risky to the infant than intramuscular VK.


Subject(s)
Factor VII/analysis , Factor X/analysis , Prothrombin/analysis , Vitamin K/pharmacology , Humans , Infant, Newborn
14.
Invest Clin ; 36(1): 13-21, 1995 Mar.
Article in English | MEDLINE | ID: mdl-7779940

ABSTRACT

In a group of 337 patients with a history of thrombotic episodes, pregnancy losses and/or thrombocytopenia, 66 cases of lupus anticoagulant (LA) were found. Spontaneous platelet aggregation and the aggregatory responses of platelet rich plasmas (PRP) from 14 patients, with a history of thrombotic episodes, with anticardiolipin (ACA) levels above 21 IgG antiphospholipid antibodies units and normal platelet counts were studied and compared with those of 8 patients with history of thrombosis and negative LA and ACA (controls). Epinephrine, adenosine diphosphate, collagen and ristocetin were used as platelet aggregation inducers. Early collagen-whole blood interaction (BASIC WAVE), as a measure of platelet recruitment, and the levels of von Willebrand factor were also determined. The results of each test were compared with those of nine patients, used as controls, with thrombotic antecedents but negative LA and ACA. None of the patients with LA, or the control group, showed spontaneous platelet aggregation. The aggregatory responses, when epinephrine, ADP or collagen were added to the patient's PRP, were within normal range in most cases (64.2%, 52% and 72% respectively). The highest rate of hyperaggregation after the above mentioned inducers, was 12% and corresponded to the response to collagen. On the contrary, platelet aggregation rate with ristocetin was higher than 100% in 61.0% of the problem group, with no significative difference from the controls. The BASIC WAVE was of low rate and similar in the two groups studied. The von Willebrand factor was significantly higher (150 +/- 55%) in the problem group than in the controls (98 +/- 25.6%) (p < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)


Subject(s)
Blood Platelets/physiology , Lupus Coagulation Inhibitor/blood , Platelet Aggregation/physiology , Thrombosis/blood , Case-Control Studies , Female , Humans , Male
15.
Invest Clin ; 34(2): 99-105, 1993.
Article in Spanish | MEDLINE | ID: mdl-8123712

ABSTRACT

Isla de Toas is an island on the north of the Maracaibo Lake, it is known in the scientific community, for the high frequency of sickle cell disease, in a population with caucasoid phenotype. The purpose of the present work was to determine the frequency of sickle cell anemia in the population of Cuatro Bocas, situated 35 km from the southwest of Isla de Toas. The town is the center of confluence of a rural population constituted mainly of farmers. The sample consisted of 870 persons of both sexes, aged from 8 months to 66 years. The presence of the sickling phenomenon was determined in all the individuals, and hemoglobin electrophoresis in agarose was performed in all the positive samples. The following results were obtained: fifty-six cases (6.4%), showed drepanocytic changes, and forty-six of them were haemoglobin A/S, 8 were S/S and 2 were S/C. The higher frequency of hemoglobin S was in adolescents and adults. The family backgrounds suggest an insular origin of the sickle cell gene. About 75% of the affected population was ignorant of this condition. The hemoglobin values were lower in the individuals with the sickle cell disease (p < 0.05), than in the normal persons. Iron deficiency in adolescents was suspected because or their low hemoglobin values. The results indicate that the sickle cell gen is expanding to the nearest communities of the Mara county. It is important to consider that the findings of the present work should serve as an alert to the Public Health authorities, and that education of the population is important in order to prevent the spreading of the disease.


Subject(s)
Anemia, Sickle Cell/epidemiology , Adolescent , Adult , Aged , Anemia, Sickle Cell/genetics , Anemia, Sickle Cell/prevention & control , Child , Child, Preschool , Ethnicity/genetics , Female , Gene Frequency , Globins/genetics , Hemoglobins/analysis , Humans , Infant , Male , Middle Aged , Prevalence , Sickle Cell Trait/epidemiology , Sickle Cell Trait/genetics , Venezuela/epidemiology
16.
Invest Clin ; 34(3): 113-8, 1993.
Article in Spanish | MEDLINE | ID: mdl-7512388

ABSTRACT

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.


Subject(s)
Hemophilia A/epidemiology , Hemophilia B/epidemiology , Hepatitis C/epidemiology , Adolescent , Adult , Child , Child, Preschool , Comorbidity , Factor VIII/adverse effects , Hepacivirus/immunology , Hepatitis Antibodies/blood , Hepatitis C/transmission , Hepatitis C Antibodies , Humans , Prevalence , Seroepidemiologic Studies , Transfusion Reaction , Venezuela/epidemiology
17.
Invest Clin ; 33(4): 165-74, 1992.
Article in Spanish | MEDLINE | ID: mdl-1338940

ABSTRACT

The present study compares the effect of the intramuscular injection of low doses of IgG anti-D or human polyvalent immunoglobulin (Ig) on the platelet count of patients with CATP. Forty patients (14 children, 26 adults), 11 who had undergone splenectomy, were divided in the following groups of treatment: 20 patients received a single injection of 300 micrograms of IgG anti-D, 6 patients received the same dose as above plus 0.5 mg/kg daily of prednisone v.o and 14 patients received 640 mg of polyvalent Ig. Each patient was sequentially studied by measuring peripheral blood parameters, reticulocyte index, direct Coombs' test and C3-C4 determinations. Their blood group and Rh factor had been previously determined. The platelet response was evaluated as refractory (no response) and favorable (platelet increment over 50,000/microliters compared with initial platelet count). Patients with a favorable response over a month were considered as a prolonged remission. The results showed a favorable platelet response in 74% of the patients that received a single injection of IgG anti-D alone (one of the patients was Rh negative) or associated to prednisone, and 42.8% of the cases when polyvalent Ig was used. The patients who had not undergone splenectomy obtained better results than the group with splenectomy (62% vs 45%) and children showed a better response than adults (78.5% vs 46.1%). Forty five percent of prolonged remissions (including the Rh negative patient) were obtained with both schemes of IgG anti-D administration and only 28.5% when polyvalent Ig was used. The remissions were significantly longer with IgG anti-D (p < 0.01). The hematological and serological parameters did not show any significant modifications in all the cases and there was no adverse effects with the treatment. In conclusion, the intramuscular injection of immunoglobulins, especially IgG anti-D, produce an increase in the platelet count in some patients with CATP, several of them can obtain prolonged remissions, particularly children and patients that had not received immunoglobulins previously. This treatment is safe, ambulatory, easy to administer, and relatively inexpensive.


Subject(s)
Autoimmune Diseases/therapy , Immunization, Passive , Immunoglobulin G/therapeutic use , Immunoglobulins , Isoantibodies/therapeutic use , Purpura, Thrombocytopenic/therapy , Rh-Hr Blood-Group System/immunology , Adolescent , Adult , Aged , Child , Child, Preschool , Chronic Disease , Combined Modality Therapy , Female , Humans , Immunoglobulin G/immunology , Injections, Intramuscular , Isoantibodies/immunology , Male , Middle Aged , Platelet Count , Prednisone/therapeutic use , Remission Induction , Rho(D) Immune Globulin , Splenectomy , Treatment Outcome
18.
Invest Clin ; 32(3): 123-9, 1991.
Article in Spanish | MEDLINE | ID: mdl-1814475

ABSTRACT

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.


Subject(s)
Fibrinolysis , Gingival Crevicular Fluid/chemistry , Gingival Hemorrhage/etiology , Hemophilia A/metabolism , Adult , Child , Gingival Hemorrhage/physiopathology , Gingival Pocket/etiology , Hemophilia A/complications , Humans , Male
19.
Invest Clin ; 32(4): 187-99, 1991.
Article in Spanish | MEDLINE | ID: mdl-1822722

ABSTRACT

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.


Subject(s)
von Willebrand Diseases/epidemiology , Adolescent , Adult , Anemia, Sickle Cell/complications , Child , Child, Preschool , Female , Hemorrhagic Disorders/diagnosis , Humans , Incidence , Infant , Male , Middle Aged , Mitral Valve Prolapse/complications , Mucopolysaccharidosis II/complications , Pregnancy , Pregnancy Complications, Hematologic , Prevalence , Purpura, Thrombocytopenic, Idiopathic/complications , Venezuela/epidemiology , von Willebrand Diseases/diagnosis
20.
Invest Clin ; 31(1): 45-55, 1990.
Article in Spanish | MEDLINE | ID: mdl-2128614

ABSTRACT

The frequency of "Lupus anticoagulant" (LA), was studied in 51 patients with systemic lupus erythematosus (SLE), 15 patients with chronic immune thrombocytopenic purpura (ITP) and 3 other patients with prolonged partial thromboplastin time (PTT), two of which had suffered episodes of CVA, and the other had a diagnosis of Paroxysmal Nocturnal Hemoglobinuria. Lupus anticoagulant was determined in each patient by the plasma recalcification time and the Russell's viper venom clotting time. Eight patients with SLE, (15.6%) 6 with chronic ITP (40%) and the three patients with prolonged PTT were positive for LA. All patients with LA were female, whose ages ranged from 19 to 59 years, and all except two patients were under steroid therapy. Thrombocytopenia was the most frequent manifestation in the patients with LA, followed by recurrent fetal death and thrombosis. Only the patients with ITP had hemorrhagic complications and one of them also had CVA in one occasion. The immunosupressory therapy may have played a role in diminishing the frequency of LA in the patients studied.


Subject(s)
Blood Coagulation Factors/immunology , Lupus Erythematosus, Systemic/blood , Adolescent , Adult , Blood Coagulation Factors/analysis , Child , Female , Humans , Lupus Coagulation Inhibitor , Male , Middle Aged
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