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1.
J Bioeth Inq ; 2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38478325

RESUMO

In order to study early human development while avoiding the burdens associated with human embryo research, scientists are redirecting their efforts towards so-called human embryo-like structures (hELS). hELS are created from clusters of human pluripotent stem cells and seem capable of mimicking early human development with increasing accuracy. Notwithstanding, hELS research finds itself at the intersection of historically controversial fields, and the expectation that it might be received as similarly sensitive is prompting proactive law reform in many jurisdictions, including the Netherlands. However, studies on the public perception of hELS research remain scarce. To help guide policymakers and fill this gap in the literature, we conducted an explorative qualitative study aimed at mapping the range of perspectives in the Netherlands on the creation and research use of hELS. This article reports on a subset of our findings, namely those pertaining to (the degrees of and requirements for) confidence in research with hELS and its regulation. Despite commonly found disparities in confidence on emerging biotechnologies, we also found wide consensus regarding the requirements for having (more) confidence in hELS research. We conclude by reflecting on how these findings could be relevant to researchers and (Dutch) policymakers when interpreted within the context of their limitations.

2.
Sovrem Tekhnologii Med ; 14(2): 41-49, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-37065428

RESUMO

The aim of the study is to develop methods for the differentiation of mutations in the BRAF codon 600 and to increase the sensitivity of the K601E mutation detection. Materials and Methods: The nucleotide sequence of the BRAF codons 592-602 was identified using the PyroMark Q24 genetic analysis system. The mutations search in codon 600 was conducted using the 600-S primer in line with the following order of adding nucleotides: GCTGTCАTCTGCTAGCTAGAC (corresponding to nucleotides 1799-1786). The K601E mutation was detected using the 601-S primer in line with the following order of nucleotide addition: GCTACTCACTGTAG (corresponding to nucleotides 1801-1793). The analytical characteristics of the proposed methods for somatic mutations' detection were determined using dilutions of plasmid DNA samples containing the BRAF gene region without mutations or with one of the following mutations: V600E, V600R, V600K, V600M, and K601E. Validation was performed on 132 samples of biological material obtained from the thyroid nodules. Results: The developed methods allow to determine 2% of the V600E or V600M mutations, 1% of the V600K and V600R mutations, and 3% of the K601E mutations in samples with high DNA concentration; it is also possible to confidently detect at least 5% of the mutant allele for all mutations in low concentration samples (less than 500 copies/PCR). During biological material testing, 53 samples with the V600E mutation were detected; the proportion of the mutant allele was 4.9-50.0%. Conclusion: A complex of methods for determination of the nucleotide sequence of the BRAF codons 592-601 and the algorithm for testing samples and analyzing mutations in the BRAF codons 600-601 was developed. The method provides sufficient sensitivity to detect frequent mutations in codons 600 and 601 and allows them to be precisely differentiated.


Assuntos
Proteínas Proto-Oncogênicas B-raf , Nódulo da Glândula Tireoide , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Nódulo da Glândula Tireoide/genética , Mutação/genética , Códon/genética , Sequenciamento de Nucleotídeos em Larga Escala
3.
J Laryngol Otol ; 136(5): 427-432, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34702378

RESUMO

OBJECTIVE: Post-operative bleeding is one of the most common and severe complications of turbinate surgery. This study compared post-operative bleeding following partial turbinectomy, submucosal turbinate reduction and endoscopic turbinoplasty. METHODS: Post-operative bleeding was assessed in patients who underwent inferior turbinate intervention by partial turbinectomy, submucosal turbinate reduction or endoscopic turbinoplasty between January 2016 and November 2017 and had completed at least one month of follow up. RESULTS: Of 1035 patients who underwent inferior turbinate surgery during the study period, 751 were included. Of these, 56 (7.5 per cent) presented to the emergency room with post-operative bleeding; 31 (8.4 per cent) had undergone partial turbinectomy, 19 (10.7 per cent) had undergone submucosal turbinate reduction and 6 (3.0 per cent) had undergone endoscopic turbinoplasty. The odds ratio of requiring an intervention to control bleeding was significantly lower in the endoscopic turbinoplasty group than in the submucosal turbinate reduction group (odds ratio = 3.26, 95 per cent confidence interval = 1.02-10.43). CONCLUSION: Endoscopic turbinoplasty had the lowest rate of post-operative bleeding and the lowest rate of patients requiring intervention.


Assuntos
Obstrução Nasal , Rinoplastia , Endoscopia/efeitos adversos , Humanos , Hipertrofia/cirurgia , Obstrução Nasal/etiologia , Obstrução Nasal/cirurgia , Hemorragia Pós-Operatória/complicações , Hemorragia Pós-Operatória/etiologia , Rinoplastia/efeitos adversos , Resultado do Tratamento , Conchas Nasais/cirurgia
4.
Int J Pediatr Otorhinolaryngol ; 128: 109738, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31698244

RESUMO

OBJECTIVE: Tracheal mucosal damage is a well-known complication of endo-tracheal intubation and animal models are essential for studying the underlying cellular injury cascade. The novel rat model described here is based on retrograde intubation via tracheotomy and suture fixation of the tube. It aims to simulate the common clinical scenario of tube-related airway damage due to long term intubation. STUDY DESIGN: Prospective randomized control pilot study. METHODS: Male Sprague-Dawley were randomly assigned into two groups: control (no intubation, n = 10), one week of intubation (n = 13). The animals were then euthanized and the trachea was sent for histological analysis. Epithelial damage, mucosal thickness, mucosal gland hypertrophy and fibrosis were reviewed. RESULTS: Intubation procedure survival rate was 84.6% (11/13) and 100% in the control (10/10). The damaged ciliary mechanism was a common finding in the intubated group compared to the preserved normal ciliary architecture in almost all control rats. Average tracheal mucosal thickness was 119.0 ±â€¯21.8 µm for the control group and 254.6 ±â€¯22.8 µm for the intubated group, (p < 0.001). The ciliary damage score was 1.00 ±â€¯0.02 in the intubated group, and 0 ±â€¯0.02 in the control group. (p < 0.001). The (objective) average total tracheal mucosal gland area was 19,530 ±â€¯24,606 in the intubated group and 10,031 ±â€¯23,461 in the control group (p < 0,05). Collagen deposition seems higher in the intubated trachea compared to the control. CONCLUSIONS: We describe a novel rat-based animal model for simulating tracheal mucosal damage following long term intubation. This animal model is easy to carry out, reproducible and involves containable animal mortality rates. LEVEL OF EVIDENCE: I.


Assuntos
Intubação Intratraqueal/efeitos adversos , Mucosa Respiratória/lesões , Traqueia/lesões , Traqueia/patologia , Animais , Cílios/patologia , Colágeno/metabolismo , Modelos Animais de Doenças , Fibrose , Distribuição Aleatória , Ratos Sprague-Dawley , Mucosa Respiratória/patologia
5.
Transplant Proc ; 50(10): 3577-3581, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30577241

RESUMO

BACKGROUND: The advent of tumor-size-based criteria (Milan and University of California, San Francisco [UCSF]) for the transplantation of hepatocellular carcinomas (HCC) has facilitated tumor patients' access to transplantation. Recent success in transplanting patients with larger tumors (beyond UCSF) necessitates an understanding of the patient, the tumor, and biological criteria that determine successful outcomes for HCC transplantation across all size criteria. METHODS: We analyzed 11,928 patients who received OLT between 2002 and 2013 from the United Network for Organ Sharing Standard Transplant Analysis and Research file. Clinical outcomes were compared by tumor size at transplant; Milan (n = 11,555), beyond Milan within UCSF (n = 291), and beyond both Milan and UCSF (n = 82). A statistical analysis was conducted to determine the factors impacting survival. RESULTS: There were no statistically significant differences in the 1-, 3-, and 5-year survival rates between the 3 patient groups (within Milan 91.1%, 74.8%, and 60.3%; beyond Milan within UCSF, 92.7%, 71.1%, and 51.6%; and beyond Milan and UCSF 95.8%, 75.9%, and 58.1%). In a multivariate analysis, factors significantly affecting survival included, AA race, AFP >3000, and hepatitis C infection, while age, diabetes and largest tumor diameter had a more modest impact. Total tumor burden and time to transplantation were not significant predictors of survival. CONCLUSIONS: These data indicate that, based on current clinical selection criteria, a small number of large tumors can be successfully treated by transplantation and points to the need to include markers of HCC biologic behavior beyond size and tumor burden to transplant criteria.


Assuntos
Carcinoma Hepatocelular/patologia , Carcinoma Hepatocelular/cirurgia , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/cirurgia , Transplante de Fígado/métodos , Adulto , Idoso , Feminino , Humanos , Transplante de Fígado/mortalidade , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
6.
Transplant Proc ; 46(3): 870-2, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24767368

RESUMO

BACKGROUND: Among the many complications that can occur after liver transplantation are diabetes and hypertension. In this study, we evaluated the overall prevalence of and identified predictors for post-transplantation diabetes and hypertension. METHODS: This study was retrospective. We collected the data of the patients from the database in the liver transplant unit. RESULTS: Incidence of new-onset diabetes after transplantation (NODAT) was 25% and incidence of post-transplantation hypertension was 20%. No predictors were found for NODAT. Predictors of post-transplantation hypertension were body mass index and use of cyclosporine. CONCLUSIONS: Diabetes and hypertension are common after liver transplantation. Predictors of post-transplantation hypertension are high body mass index and use of cyclosporine.


Assuntos
Diabetes Mellitus/etiologia , Hipertensão/etiologia , Transplante de Fígado/efeitos adversos , Humanos , Estudos Retrospectivos
8.
J Water Health ; 9(3): 525-33, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21976199

RESUMO

Rain harvesting is becoming more common in the Palestinian Territories as a result of drinking water scarcity. Although it might pose serious human health risk, this water is being consumed without treatment in many areas of the West Bank. The present study evaluates the physicochemical and microbial quality of harvested rainwater that is used as potable water in the West Bank. Samples from roof-harvested rainwater storage tanks (n = 42) were collected in summer (SS) 2006/winter (WS) 2007. Physicochemical parameters measured were: temperature, pH, electrical conductivity, salinity, total dissolved solids, turbidity, nitrate, copper and lead. With few exceptions, all these parameters were within WHO guideline values. All samples (100%) were found to contain coliforms and to be heavily contaminated with heterotrophic bacteria. About 67% of all samples were contaminated with fecal coliforms. Specific PCR technique confirmed the presence of five pathogenic microorganisms that can be ordered according to their prevalence as: Citrobacter (83%) > Acinetobacter (78%) > Aeromonas (52%) > Pseudomonas and Campylobacter (7%). Prevalence of microorganisms in SS was higher than in WS. Although the physicochemical quality of most harvested rainwater samples was in accordance with WHO guidelines for drinking water, stored rainwater was significantly contaminated with bacteria resulting in significant human health risk from infectious diseases.


Assuntos
Água Potável/microbiologia , Enterobacteriaceae/isolamento & purificação , Chuva/química , Microbiologia da Água , Primers do DNA , Enterobacteriaceae/genética , Humanos , Oriente Médio , Reação em Cadeia da Polimerase , Qualidade da Água , Abastecimento de Água/análise
9.
J Immunotoxicol ; 6(1): 36-41, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19519161

RESUMO

Diabetes mellitus (DM), one of the commonest metabolic disorders, can impair the function of cells involved in cellular and/or humoral immunity. This study sought to define potential effects upon cell-mediated immune cells due to an acute hyperglycemic state (in vitro) for comparison against those that might be attributable to a diabetic phenotype itself. Peripheral blood mononuclear cells (PBMC) were isolated from ten diabetic patients (5 with Type I disease and 5 with Type II) and 10 healthy controls. The cells were then challenged with 1 of 3 different mitogens (concanavalin A, phytohemagglutinin, pokeweed mitogen) in the presence of differing glucose concentrations (0, 100, 200, 400, or 800 mg/dl), and proliferative responses assessed. Neutrophils (PMNC) from the blood samples, exposed to the same experimental conditions, were analyzed for respiratory burst activity using nitroblue tetrazolium. The results indicated that there was significant inhibition of the proliferative responses to mitogens among the stimulated PBMC and in respiratory burst activity among the PMNC obtained from the diabetic patients. However, these effects were not affected by either the added presence of increasing amounts of exogenous glucose, the type of diabetes the patients had, the length of time the patient had had the disease, or whether or not the patients had been receiving insulin treatments. In contrast, the PBMC from healthy individuals appeared to display dose-trend decreases in responsiveness to mitogens; interestingly, similar effects on their PMNC were not evident. It was thus concluded that in situ ongoing repeated hyperglycemic states caused changes in cells of the immune system that could have been caused by repeated "continuous" exposures to excess sugar. Further studies are needed to more clearly identify hyperglycemia (sugar)-sensitive targets on/in these cells that could contribute to the appearance of the diabetic immunodeficiency in these types of patients.


Assuntos
Diabetes Mellitus/imunologia , Diabetes Mellitus/metabolismo , Hiperglicemia/imunologia , Leucócitos Mononucleares/imunologia , Neutrófilos/imunologia , Adulto , Proliferação de Células/efeitos dos fármacos , Concanavalina A/farmacologia , Diabetes Mellitus Tipo 1/imunologia , Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus Tipo 2/imunologia , Diabetes Mellitus Tipo 2/metabolismo , Feminino , Glucose/farmacologia , Humanos , Hiperglicemia/metabolismo , Leucócitos Mononucleares/citologia , Leucócitos Mononucleares/efeitos dos fármacos , Masculino , Pessoa de Meia-Idade , Neutrófilos/efeitos dos fármacos , Neutrófilos/metabolismo , Nitroazul de Tetrazólio/metabolismo , Fito-Hemaglutininas/farmacologia , Mitógenos de Phytolacca americana/farmacologia , Explosão Respiratória/efeitos dos fármacos , Explosão Respiratória/imunologia
10.
Pharmacoepidemiol Drug Saf ; 17(11): 1123-30, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18816462

RESUMO

BACKGROUND: Information on prescribing practices in Palestine is lacking, however, still essential for strategic planning. PURPOSE: To characterise prescribing patterns and specific medicine use indicators in selected non-governmental organisations' (NGO) primary healthcare clinics/centres (PHC) in the West Bank (WB) in Palestine. METHODOLOGY: A prospective cross-sectional survey of prescribing practices based on medical records of 6032 patients with acute symptoms frequenting 41 NGO PHCs in the WB, between July and September 2004. A systematic random sample of every 10th patient appearing on the patient registration list was selected. Direct observation of consultation and dispensing practices and times in a sub-group of patients was completed utilising special forms. RESULTS: Respiratory tract infections were the most commonly occurring conditions. On average, 1.9 drugs were prescribed per encounter and antibiotics were the most commonly prescribed medications, followed by Analgesics and NSAIDs accounting for 46 and 20% of the total medications expenditures, respectively. Injections and combined medications use per encounter was 16 and 8%, respectively. Most commonly prescribed medications were of local production. Consultation (6.4 +/- 4.6 minutes) and dispensing times (1.6 +/- 1.5 minutes) were short with inadequate labelling. Provision of reference sources and treatment guidelines implementation were also inadequate. CONCLUSION: The results suggest that prescribing practices could be improved through wider implementation of treatment guidelines, a review of antibiotic prescribing, and increased time spent with patients to promote concordance. Strategies aimed at improving prescribing and dispensing practices should be addressed through new innovative capacity building models based on problem solving and feedback mechanisms.


Assuntos
Instituições de Assistência Ambulatorial , Árabes , Revisão de Uso de Medicamentos , Padrões de Prática Médica , Medicamentos sob Prescrição/uso terapêutico , Atenção Primária à Saúde , Setor Privado , Adolescente , Adulto , Instituições de Assistência Ambulatorial/economia , Instituições de Assistência Ambulatorial/estatística & dados numéricos , Árabes/estatística & dados numéricos , Estudos Transversais , Custos de Medicamentos , Rotulagem de Medicamentos , Feminino , Fidelidade a Diretrizes , Humanos , Masculino , Oriente Médio , Guias de Prática Clínica como Assunto , Padrões de Prática Médica/estatística & dados numéricos , Medicamentos sob Prescrição/economia , Atenção Primária à Saúde/economia , Atenção Primária à Saúde/estatística & dados numéricos , Setor Privado/economia , Setor Privado/estatística & dados numéricos , Estudos Prospectivos , Qualidade da Assistência à Saúde , Encaminhamento e Consulta , Adulto Jovem
11.
Scand J Immunol ; 65(2): 171-5, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17257222

RESUMO

This clinical study was conducted to evaluate the diagnostic value of C-reactive protein (CRP), interlekin-6 (IL-6) and immunoglobulin M (IgM) in the early diagnosis of neonatal sepsis. The diagnostic values of each marker separately or in combinations were evaluated. The optimal cut-off values of each marker in the diagnosis of neonatal sepsis were defined. Between December 2004 and March 2005, a total of 78 neonates at different ages with different diagnoses in a neonatal intensive care unit in North Jordan were enrolled. Patients were classified into 'sepsis' group, 'probable sepsis' group and 'no sepsis' group. Blood samples were collected for CRP, IL-6 and IgM determination. A CRP value of 5 mg/l was the best among the three parameters with 95% sensitivity and 98% negative predictive value. Combination between parameters was helpful in enhancing the ability to diagnose sepsis. The best combination was CRP > or = 5 mg/l and/or IgM of > or =20 mg/dl. We conclude that CRP, IL-6 and IgM are helpful in the early diagnosis of Gram-negative neonatal sepsis. However, CRP continues to be the best single test. The use of both CRP and IgM in combination was the most helpful in predicting Gram-negative neonatal sepsis. We speculate a significant role of this combination in making decisions regarding antibiotics treatment and upgrading the level of medical care and observation in a setting where Gram-negative micro-organisms are causing the majority of neonatal infections.


Assuntos
Proteína C-Reativa/análise , Infecções por Bactérias Gram-Negativas/diagnóstico , Imunoglobulina M/sangue , Interleucina-6/sangue , Sepse/diagnóstico , Biomarcadores/sangue , Feminino , Bactérias Gram-Negativas/isolamento & purificação , Humanos , Recém-Nascido , Jordânia , Masculino , Prognóstico
12.
Reprod Toxicol ; 21(1): 21-5, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16112540

RESUMO

BACKGROUND: Periconceptional folic acid supplementation is effective in preventing primary and secondary neural tube defects (NTDs) and other congenital defects. It is important to estimate folate intake and knowledge in women of child-bearing age, in relation to risk of congenital anomalies. AIM: The aim of this study was to determine the level of knowledge about the usefulness of periconceptional folic acid supplementation in a sample of women in the child-bearing age. DESIGN: This is a cross-sectional survey. SETTING: Eleven primary health care centers and women's hospital in Qatar. SUBJECTS: A multistage sampling design was used and a representative sample of 1,800 Qatari women aged between 18 and 45 years were surveyed during the period June to November 2004. One thousand four hundred and eighty women (82.2%) expressed their consent to participate in this study. METHODS: A confidential, anonymous questionnaire was completed by the selected subjects assessing folic acid awareness. Questionnaires were administered to women who were seeking routine antenatal care at health centers and Women's Hospital. Questions covered knowledge and use of folic acid supplements, pregnancy intention, and demographic and socioeconomic characteristics. Factors affecting study outcomes were examined individually by computing crude odd ratios and adjusted for other covariates using unconditional logistic regression. RESULTS: Out of 1480 women surveyed, 53.7% of them reported that they heard of folate. Of these, only half of the subjects knew that folate was something important. Overall, 20.3% of the respondents took folic acid. The most common information sources on folate were physicians (63.4%), and newspapers/magazine/books (21.7%). From those who heard of folate, only 14% knew that it can prevent birth defects. 40.6% of the subjects who heard folate were aware that green leafy vegetables were fortified with folic acid. In univariate analysis, awareness of folic acid was significantly associated with education of mother. Again, higher educated women (41.3%) knew more about folic acid and used it more often in the periconceptional and first trimester period. CONCLUSION: Awareness and use of folic acid was less prevalent among Qatari women. Educated women were aware of the importance of the intake of folic acid. The study findings suggested possible avenue for intervention to increase awareness and intake of folic acid.


Assuntos
Ácido Fólico/administração & dosagem , Conhecimentos, Atitudes e Prática em Saúde , Defeitos do Tubo Neural/prevenção & controle , Adulto , Árabes , Estudos Transversais , Escolaridade , Feminino , Humanos , Educação de Pacientes como Assunto , Cuidado Pré-Concepcional , Gravidez , Cuidado Pré-Natal , Fenômenos Fisiológicos da Nutrição Pré-Natal , Catar
13.
Seizure ; 14(7): 459-63, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16087357

RESUMO

OBJECTIVES: This study has been conducted to assess the efficacy and safety of topiramate in refractory epilepsies in infants and young children. METHODS: A prospective clinical trial was performed in three tertiary care hospitals, on 47 children aged 6-60 months with refractory epilepsy. Topiramate was added to at least two baseline anti-epileptic drugs. The efficacy was rated according to seizure type, frequency and duration. RESULTS: Children with refractory epilepsy were classified according to their clinical, neuro-imaging, and neurophysiological profile into infantile spasms (IS) (9 cases, 19%), Lennox-Gastaut syndrome (LGS) (25 cases, 53%) and other epilepsies (13 cases, 28%). Children were also classified into cryptogenic and symptomatic epilepsy. Topiramate was introduced as add-on therapy in a daily dose of 1 mg/kg/day for 2 weeks, followed by increments of 1-3 mg/kg/day at 2-week intervals, up to a maximum of 10 mg/kg/day. After a minimum treatment period of 6 months, 28 (60%) of the children had a satisfactory response (completely seizure free, or more than a 50% seizure reduction). The remaining 19 children (40%) had an unsatisfactory response (50% or less reduction in seizure frequency, no change or increased seizure frequency). Topiramate appeared to be equally effective in infantile spasms, Lennox-Gastaut syndrome and children with other types of epilepsy, with no significant difference between those with a satisfactory and an unsatisfactory response (p=0.089). There was also no significant difference in response between patients with cryptogenic and symptomatic epilepsy (p=0.360). Mild to moderate adverse effects, mainly somnolence, anorexia and nervousness, were present in 25 (53%) of children. One of the children developed hypothyroidism. CONCLUSION: Although the long term safety and possible adverse effects of topiramate have not been fully established in infants and young children, this study has shown that it is a useful option for children with frequent seizures unresponsive to standard anti-epileptic drugs.


Assuntos
Epilepsia/tratamento farmacológico , Frutose/análogos & derivados , Fármacos Neuroprotetores/uso terapêutico , Pré-Escolar , Demografia , Esquema de Medicação , Epilepsia/classificação , Feminino , Frutose/efeitos adversos , Frutose/uso terapêutico , Humanos , Lactente , Masculino , Fármacos Neuroprotetores/efeitos adversos , Estudos Prospectivos , Topiramato , Resultado do Tratamento
14.
Am J Med Genet B Neuropsychiatr Genet ; 133B(1): 25-30, 2005 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-15558715

RESUMO

Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for rare phenotypic subgroups. In the present study, homozygosity mapping was applied to 24 persons with bipolar disorder from 22 inbred families. The families were selected irrespective of whether other affected family members were present or not. A genome wide screen using genotypes from only a single affected person in each family was performed using the AFFYMETRIX GeneChip HuSNP Mapping Assay, which contains 1,494 single nucleotide polymorphisms. At chromosome 17q24-q25 a parametric multipoint LOD score of 1.96 was found at WIAF-2407 and WIAF-2405. When analyzing 19 additional microsatellite markers on chromosome 17q the maximum parametric multipoint LOD score was 2.08, 1.5 cM proximal to D17S668. The present study replicates a recent significant linkage finding.


Assuntos
Transtorno Bipolar/genética , Mapeamento Cromossômico/métodos , Predisposição Genética para Doença/genética , Genoma Humano , Polimorfismo de Nucleotídeo Único , Alelos , Cromossomos Humanos Par 17/genética , Consanguinidade , Cuba , Saúde da Família , Feminino , Frequência do Gene , Genótipo , Homozigoto , Humanos , Escore Lod , Masculino , Repetições de Microssatélites , Linhagem
15.
Neuro Endocrinol Lett ; 25(3): 178-83, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15349082

RESUMO

PURPOSE: A case control study was conducted to assess the effect of Sabril (Vigabatrin), Lamictal (Lamotrigine) and Neurontin (Gabapentin) on fertility in male rats. Their effect on the body and organs weight and certain biochemical profiles including total serum protein, cholesterol, triglycerides, serum glutamic oxaloacetic transaminase (SGOT), serum glutamic pyruvic transaminase (SGPT), serum testosterone, and FSH levels were also measured. METHODS: several parameters, concerning fertility were measured in 40 albino male rats of Sprague Dawley strain, they were divided into 4 groups, group one received vehicle (distilled water), group two received Vigabatrin in a dose of 200 mg/kg body weight, group three received Lamotrigine in a dose of 30 mg/kg body weight, and group four received Gabapentin 100 mg/kg body weight. All the male rats in these groups received the different medications for a complete reproductive cycle (60 days). After 24 hours of the last dose, the animals were weighed and autopsied under light ether anesthesia. Parameter of fertility that has been measured in this study includes: sperm count and motility, weight of different reproductive organs, germ cell and interstitial cell population, serum testosterone and FSH levels and assessment of pregnancies in females mixed with tested males. Biochemical profiles such as serum cholesterol, serum triglycerides, serum bilirubin, SGOT, SGPT level are all measured. The results of the histological, histometerical studies and biochemical profiles were compared to that of the control group, and the significance of these results was measured using student's "t" test. RESULTS: There was significant reduction in the body weight and the weight of the testes, epididymis, seminal vesicles, ventral prostate, and vas deferens in the antiepileptic fed male rats in comparison to the control group (p > 0.001). There was significant reduction in testicular cells population dynamics including both germinal cell types and interstitial cell types in the antiepileptic fed male rats in comparison to the control group. There was also significant reduction in histometrical parameters and sperm dynamics in the antiepileptic fed male rats histologies in comparison to the control group. There was significant reduction in both testosterone and FSH levels (p < 0.001) in the antiepileptics fed male rats in comparison to the control group. There was also significant reduction in pregnancy rate observed in female rats exposed to the tested male rats among antiepileptic fed male rats compared to controls. The results of biochemical profiles assessment showed significant reduction in serum glucose, serum cholesterol, serum triglycerides levels and significant increase in serum bilirubin, SGOT, and SGPT levels in antiepileptics fed male rats in comparison to the control group. CONCLUSIONS: Fertility rate and other parameters concerned with fertility, sex hormones and certain biochemical profiles were significantly disturbed in male rats fed with three of the second-generation antiepileptic drugs Vigabatrin, Lamotrigine, and Gabapentin, indicating a possible toxic effect of these three medications on sexual organs, liver, and lipid metabolism.


Assuntos
Aminas/farmacologia , Peso Corporal/efeitos dos fármacos , Ácidos Cicloexanocarboxílicos/farmacologia , Fertilidade/fisiologia , Hormônio Foliculoestimulante/sangue , Prenhez/efeitos dos fármacos , Testosterona/sangue , Triazinas/farmacologia , Vigabatrina/farmacologia , Ácido gama-Aminobutírico/farmacologia , Analgésicos/farmacologia , Animais , Antimaníacos/farmacologia , Feminino , Fertilidade/efeitos dos fármacos , Gabapentina , Lamotrigina , Masculino , Tamanho do Órgão/efeitos dos fármacos , Gravidez , Ratos , Ratos Sprague-Dawley
16.
Seizure ; 13(2): 99-103, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15129838

RESUMO

PURPOSE: There is wide variation in the reported recurrence rate after a first unprovoked seizure in children. We investigated the risk of recurrence after a first unprovoked seizure in Jordanian children and the risk factors associated with increased recurrence rate. METHODS: All consecutive patients aged 3 months-14 years who presented with their first unprovoked seizures between January 1997 and 2000, were included in a prospective study and followed up for 3 years for possible recurrence. Of the patients studied, there was slight male predominance (56.6%) and 55% of them were 2-9 years of age. Generalised seizures were reported in 75% and the remaining 25% had partial seizures. The duration of seizure was 1-4 minutes in 59%. Family history of epilepsy was positive in 31% and parental consanguinity in 32%. The role of these factors in increasing the risk of recurrence was also investigated. RESULTS: Two hundred sixty-five patients were included in the study and continued follow up for 3 years. Ninety-eight (37%) of them experienced seizure recurrence. Among the predictor factors for recurrence, partial seizure (P = 0.003) and positive family history (P = 0.000) were associated with a statistically significant increased risk. Sex, age, duration of seizure and consanguinity were not associated with increased risk of recurrence. CONCLUSION: Thirty-seven percent of the children studied experienced a second attack after a first unprovoked seizure over the 3 years follows up period. The risk of recurrence was significantly higher in children with a partial seizure (55%) and among those with a positive family history of epilepsy (59%). Age at first seizure, sex, duration of seizure and consanguinity were not significantly related to the risk of recurrence.


Assuntos
Convulsões/etnologia , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Jordânia/epidemiologia , Imageamento por Ressonância Magnética , Masculino , Prevalência , Estudos Prospectivos , Recidiva , Fatores de Risco , Convulsões/diagnóstico , Convulsões/epidemiologia , Distribuição por Sexo , Tomografia Computadorizada por Raios X
17.
Saudi Med J ; 24(4): 347-51, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12754531

RESUMO

OBJECTIVE: The aim of this study is to evaluate the response rate of hyperthyroidism to radioactive iodine (RAI) treatment, optimum effective dose, effect of pretreatment with thyrostatic medications, etiology, ophthalmopathy, mortality and cancer incidence post RAI treatment. METHODS: Retrospective study analysis of 360 patients records who received RAI treatment (dose 5-15 mCi) for hyperthyroidism in Hamad Medical Corporation, Qatar between 1984-1999, treated and analyzed. Follow-up data was available in 215 patients, with a follow-up range of 2-10 years, of these 84 were males and 131 were females, with an age range of 12-74 years. Eighty percent were toxic diffuse goiter, 13.5% were toxic multinodular goiter and 6.5% were toxic single nodule. Eighty-seven percent had been pre-treated with anti-thyroid medications. Free thyroxine4, and thyroid stimulating hormone were recorded at diagnosis; 6 months, one year and yearly post RAI treatment. RESULTS: The incidence of hypothyroidism was 55.8% at 6 months and 67.9% at one year. There was no significant difference in the response rate to different doses of RAI treatment groups (50-59%, p=0.46). The response rate was significantly higher in the group without pre-treatment with anti-thyroid medications (95% versus 80.9%, p<0.0001) and 27.4% of our patients had ophthalmopathy. There was no significant worsening or new development of ophthalmopathy post RAI treatment. Three of our patients developed cancer: one with colonic, one with breast and one with acute leukemia. The mortality rate according to the age group was linear in the positive direction of age and the highest was 74-year-old (10.5 per 10,0000 population). CONCLUSION: Radioactive iodine treatment is an effective modality for definitive treatment of hyperthyroidism with long-term cure approaching 80%. Response rate was not related to gender, etiology or RAI dosage. Pre-treatment with anti-thyroid medication reduces the response rate. Radioactive iodine treatment has no significant influence on ophthalmopathy, mortality or thyroid cancer.


Assuntos
Antitireóideos/uso terapêutico , Hipertireoidismo/radioterapia , Radioisótopos do Iodo/uso terapêutico , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Hipertireoidismo/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
18.
Seizure ; 12(3): 171-4, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12651084

RESUMO

OBJECTIVE: The goal of this case-control study is to identify the significance of certain risk factors for epilepsy in a population of epileptic children in Northern Jordan. The risk factors examined are febrile convulsions, head trauma, central nervous system infections, abnormal perinatal history, family history and parental consanguinity. METHODOLOGY: We designed a case-control study for patients attending the outpatient neurology clinic of Princess Rahma Teaching Hospital in Irbid, Jordan during a 7-month period. Controls were selected, matched for age and sex, from a group of non-epileptic patients attending the general paediatrics outpatient clinic in the same hospital and during the same period. Data about the investigated risk factors were obtained by personal interview and review of the medical records and were analysed statistically for significance. RESULTS: The total number of participants was 200 patients and controls each. History of febrile convulsions, head trauma, abnormal perinatal history and family history showed a statistically significant increase risk for developing epilepsy. Central nervous system infections and parental consanguinity did not add to the risk of developing epilepsy. CONCLUSION: Positive family history for epilepsy, head trauma, febrile convulsions and abnormal perinatal history were shown to have a statistically significant association with epilepsy in patients attending Princess Rahma Teaching Hospital in Northern Jordan. Although consanguinity is widely practised in Jordan, it appears that it does not increase the risk of epilepsy probably due to the small contribution of monogenic recessive epilepsies to the population with epilepsy.


Assuntos
Epilepsia/epidemiologia , Estudos de Casos e Controles , Viroses do Sistema Nervoso Central/complicações , Criança , Intervalos de Confiança , Traumatismos Craniocerebrais/complicações , Eletroencefalografia , Epilepsia/classificação , Epilepsia/etiologia , Feminino , Humanos , Lactente , Recém-Nascido , Jordânia/epidemiologia , Imageamento por Ressonância Magnética , Masculino , Anamnese/métodos , Razão de Chances , Medição de Risco , Fatores de Risco , Convulsões Febris/complicações , Tomógrafos Computadorizados
19.
Egypt J Immunol ; 10(2): 67-72, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-15719613

RESUMO

Binary ethyleneimine (BEI) was used to inactivate the local Egyptian strain of sheep pox virus. The inactivation process was applied using final concentrations of BEI at 0.5, 1, 2 and 3% for different incubation periods at 37 degrees C. The virus was completely inactivated after 7 hours incubation with by 2% BEI final concentration; the inactivated virus was adsorbed on aluminium hydroxide gel when incubated for 6 hours in a concentration 1:1. The antibody levels were estimated by virus neutralization test and ELISA. Specific antibodies appeared from the 1st week post vaccination and remained until the 4th week post challenge. The prepared vaccine was evaluated for safety, sterility and potency. The vaccine proved to be safe, sterile and inducing protection for the vaccinated lambs when challenged by the virulent sheep pox virus up to 6 months post vaccination.


Assuntos
Capripoxvirus/imunologia , Infecções por Poxviridae/veterinária , Doenças dos Ovinos/prevenção & controle , Vacinas Virais/isolamento & purificação , Animais , Aziridinas/farmacologia , Capripoxvirus/efeitos dos fármacos , Camundongos , Infecções por Poxviridae/imunologia , Infecções por Poxviridae/prevenção & controle , Segurança , Ovinos , Doenças dos Ovinos/imunologia , Vacinas de Produtos Inativados/isolamento & purificação , Vacinas de Produtos Inativados/farmacologia , Vacinas de Produtos Inativados/toxicidade , Vacinas Virais/farmacologia , Vacinas Virais/toxicidade , Inativação de Vírus/efeitos dos fármacos
20.
Egypt J Immunol ; 10(2): 73-9, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-15719614

RESUMO

Twenty-three blood samples were used in this study; five were from five naturally infected horses with Babesia equi (B. equi), while eighteen were from asymptomatic horses with equine babesiasis from different localities in Egypt. All samples were subjected to microscopic examination, indirect fluorescent antibody test (IFA) and polymerase chain reaction (PCR). The carrier animals were microscopically detected in 7 out of 18 samples (38.8%) and in 9 of 18 by using IFA (50%), whereas PCR revealed that 14 samples were positive (78%). Two synthetic oligonucleotide primers, based on the B. equi merozoite antigen gene (EMA-1) were used. A 819 bps DNA fragment is specifically amplified from the gene encoding EMA-1 of B. equi. Our results demonstrate that PCR is a valuable technique for routine detection of B. equi in chronically infected horses, even at low parasitaemia levels.


Assuntos
Babesia/genética , Babesia/isolamento & purificação , Babesiose/veterinária , Portador Sadio/veterinária , Doenças dos Cavalos/parasitologia , Animais , Babesiose/diagnóstico , Babesiose/parasitologia , Sequência de Bases , Portador Sadio/diagnóstico , Portador Sadio/parasitologia , Doença Crônica , DNA de Protozoário/genética , DNA de Protozoário/isolamento & purificação , Egito , Técnica Indireta de Fluorescência para Anticorpo , Genes de Protozoários , Doenças dos Cavalos/diagnóstico , Cavalos , Parasitemia/parasitologia , Parasitemia/veterinária , Reação em Cadeia da Polimerase
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