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1.
Artigo em Inglês | MEDLINE | ID: mdl-38922777

RESUMO

WHAT IS KNOWN ON THE SUBJECT?: Continuous observation is often used in mental health wards to support the safety of service users, where they will be constantly watched by a member of staff. Evidence suggests that continuous observations may be unhelpful and restrictive, but not enough is known about the practice or the best ways to improve it. WHAT THIS PAPER ADDS TO EXISTING KNOWLEDGE?: This evaluation integrates the perspectives of service users, informal carers and staff to explore current continuous observation experiences and inform future improvements. While previous research highlights the importance of therapeutic engagement, this study additionally emphasizes how the observation procedure could be adapted to individual needs. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: Continuous observations could be more beneficial if they are therapeutic, proportional to the level of risk and co-developed with the service user, informal carer and staff. Further training about communication could support staff engagement and the observation process could be formalized to ensure regular collaborative reviews. ABSTRACT: INTRODUCTION: Continuous observation is a frequently used tool to manage high levels of risk on psychiatric wards. However, there is little previous research on its use in practice. AIM: This qualitative service evaluation aims to explore the continuous observation experiences of service users, informal carers and staff in a local NHS Mental Health Trust, informing suggested future improvements to current practice. METHOD: Five service users, three informal carers and seven healthcare staff completed semi-structured interviews, which were thematically analysed to create four themes. RESULTS: Positive interaction and engagement in activities were critical for a therapeutic approach to observations, supporting service users and staff to minimize the unproductive behaviours that can arise. Difficulties balancing safety with privacy could suggest the importance of proportionate and tailored observation procedures for each service user. Ensuring the voices of service users and informal carers remain central to decisions regarding care could further improve the observation experience. IMPLICATIONS FOR PRACTICE: This study highlights therapeutic, proportionate and co-produced observations as key characteristics to improve practice. Further training and formalization of the observation process could foster cultural changes towards more long-term approaches to risk management.

2.
Cureus ; 15(10): e46823, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37954733

RESUMO

BACKGROUND: Acute appendicitis is one of the most common surgical causes of acute abdominal pain in adults and children in the emergency department. It is treated by appendectomy by either an open or laparoscopic approach. Although laparoscopic appendectomy has been used for the last 35 years, there are still indications for an open approach in some cases. OBJECTIVES:  The aim of this study was to explore the awareness of the general population in Saudi Arabia of appendectomy according to the surgical approach. METHODS: A cross-sectional survey using a questionnaire constructed by an expert based on Google Forms (Google, Mountain View, CA) was used from February to March 2022. Variables were demographical data, general knowledge, history of appendectomy, its surgical approach, and postoperative complications, if any. RESULTS: The study included 162 participants. The awareness level of acute appendicitis was high (72.2%). History of appendectomy was almost 30% and was significantly more common in males than females (p = 0.045). The rate of postoperative complications showed a significant difference between open (4.3%) vs. laparoscopic approaches (8%) (p = 0.001). CONCLUSION:  Young, educated Saudis are aware of the importance of surgical intervention for acute appendicitis. However, further hospital-based studies are recommended concerning the role of the surgical approach and its various impacts on postoperative complications.

3.
Appl Radiat Isot ; 180: 110065, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34933226

RESUMO

The present study aimed to evaluate organ doses and related risk for cancer from scattered neutrons involving 3D Conformational Radiotherapy (3D-CRT) for patients with prostate cancer in Algeria based on Monte Carlo technique and to estimate the secondary cancer risks. To this purpose, a detailed geometric Monte Carlo (MC) modeling of the LINAC Varian 2100C combined with a computational whole-body phantom was carried out. The neutron equivalent doses were calculated in-field and out-of field of patient's organs using the phase-space method. The obtained neutron equivalent doses were used to estimate the Lifetime Attributable Risks (LARs) for cancer incidence in out of field organs. LARs was evaluated assuming Biological Effects of Ionizing Radiation VII (BEIR VII) risk model for exposure age in the range 35-70 years, according to the interval's age of treated patients in Algeria. The baselines cancer risks and survival data were associated with the statistical data for the Algerian population. The results showed that the neutrons equivalent doses per prescribed dose (Photon Dose) mostly depend on the distance of organs from the treated volume. The highest and lowest equivalent doses of 1.18 mSv/Gy and 0.25 mSv/Gy were recorded in the bladder and heart, respectively. The highest estimated lifetime attributable risk per 100,000 population was found for 35 yrs' exposure age in colon 49.94, lung 16.63 and stomach 11.17. The lowest risks were found for 70 yrs' age, in spine 0.06 and thyroid 0.14. The results showed that LARs values decrease with the increase of the exposure age and cancer incidence risk is lower than the baseline cancer risk incidence for all organs. The present study may help in providing a database on the impact of radiotherapy-induced secondary cancer incidence during 3D-CRT for prostate cancer in Algeria.


Assuntos
Neoplasias Induzidas por Radiação/etiologia , Neoplasias da Próstata/radioterapia , Radioterapia Conformacional , Adulto , Idoso , Argélia , Humanos , Masculino , Pessoa de Meia-Idade , Método de Monte Carlo , Nêutrons , Órgãos em Risco , Imagens de Fantasmas , Fótons , Dosagem Radioterapêutica , Espalhamento de Radiação
4.
Interv Cardiol ; 16: e06, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33897832

RESUMO

The optimal management of bifurcation lesions has received significant interest in recent years and remains a matter of debate among the interventional cardiology community. Bifurcation lesions are encountered in approximately 21% of percutaneous coronary intervention procedures and are associated with an increased risk of major adverse cardiac events. The Medina classification has been developed in an attempt to standardise the terminology when describing bifurcation lesions. The focus of this article is on the management of the Medina 0,0,1 lesion ('Medina 001'), an uncommon lesion encountered in <5% of all bifurcations. Technical considerations, management options and interventional techniques relating to the Medina 001 lesion are discussed. In addition, current published data supporting the various proposed interventional treatment strategies are examined in an attempt to delineate an evidence-based approach to this uncommon lesion.

5.
Biosaf Health ; 3(1): 4-7, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32935084

RESUMO

Following the emergence of COVID-19 outbreak, numbers of studies have been conducted to curtail the global spread of the virus by identifying epidemiological changes of the disease through developing statistical models, estimation of the basic reproduction number, displaying the daily reports of confirmed and deaths cases, which are closely related to the present study. Reliable and comprehensive estimation method of the epidemiological data is required to understand the actual situation of fatalities caused by the epidemic. Case fatality rate (CFR) is one of the cardinal epidemiological parameters that adequately explains epidemiology of the outbreak of a disease. In the present study, we employed two statistical regression models such as the linear and polynomial models in order to estimate the CFR, based on the early phase of COVID-19 outbreak in Nigeria (44 days since first reported COVID-19 death). The estimate of the CFR was determined based on cumulative number of confirmed cases and deaths reported from 23 March to 30 April, 2020. The results from the linear model estimated that the CFR was 3.11% (95% CI: 2.59% - 3.80%) with R 2 value of 90% and p-value of < 0.0001. The findings from the polynomial model suggest that the CFR associated with the Nigerian outbreak is 3.0% and may range from 2.23% to 3.42% with R 2 value of 93% and p-value of <0.0001. Therefore, the polynomial regression model with the higher R 2 value fits the dataset well and provides better estimate of CFR for the reported COVID-19 cases in Nigeria.

6.
World J Surg Oncol ; 8: 68, 2010 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-20704754

RESUMO

The association between schistosomiasis and colorectal malignancy has long been suggested in the literature, but it is not uniformly accepted. In the Far East, considerable evidence supports an etiological link between Schistosoma japonicum and colorectal cancer. However, the available data regarding the role of Schistosoma mansoni in colorectal carcinogenesis are conflicting and most often do not show causality. We report on a patient with sigmoid colonic cancer coexisting with schistosomiasis, and we provide a comprehensive review of the literature regarding the epidemiology and pathobiology of this association.


Assuntos
Adenocarcinoma Mucinoso/parasitologia , Neoplasias Colorretais/parasitologia , Schistosoma mansoni/patogenicidade , Esquistossomose mansoni/parasitologia , Neoplasias do Colo Sigmoide/parasitologia , Adenocarcinoma Mucinoso/cirurgia , Adulto , Animais , Neoplasias Colorretais/cirurgia , Humanos , Masculino , Prognóstico , Esquistossomose mansoni/cirurgia , Neoplasias do Colo Sigmoide/cirurgia
7.
Arch Gynecol Obstet ; 282(5): 529-33, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20049468

RESUMO

OBJECTIVE: Pregnancy associated with ovarian tumors was reviewed over a 20-year period to determine the maternal and fetal outcome in patients undergoing surgery during pregnancy. METHOD: A retrospective study of 94 cases of ovarian tumors treated surgically during pregnancy was investigated for incidence, clinico-pathological features and outcome in a teaching hospital between June 1987 and May 2007. RESULTS: The overall incidence of ovarian tumor in pregnant women was 1 in 505 (0.2%) deliveries. Diagnosis of 69.2% tumors resulted in the first and second trimesters of pregnancy. Twenty-two (23.4%) patients presented as an emergency at different periods of gestation and 16 (17.1%) tumors were incidentally discovered at cesarean section which underlines the significance of examining the ovaries routinely at cesarean section. Benign teratoma (39.4%) and serous cystadenoma (24.5%) were the most common types of ovarian tumors found in the study. The incidence of malignant tumors was 5.3%. Tumors with low malignant potential comprised 40% of malignancy. The miscarriage rate after surgery was 44.4% in the first trimester compared with 16.6% in the second trimester. The preterm birth rate was 4.3% in the series. CONCLUSION: The value of clinical and ultrasound examinations in early pregnancy as a diagnostic aid is highlighted. Whenever an ovarian tumor is detected in pregnancy, malignancy should always be suspected. Treatment of an ovarian tumor in pregnancy should be tailored according to the age, parity, clinical presentation, gestational age and histopathology of the tumor. Removal of persisting or enlarging ovarian masses as soon as possible is important to obtain a final histologic diagnosis and rule out malignancy. Early diagnosis and appropriate treatment of malignant tumors offers the best prognosis for the patient.


Assuntos
Cistadenocarcinoma/patologia , Neoplasias Ovarianas/patologia , Complicações Neoplásicas na Gravidez/patologia , Teratoma/patologia , Adulto , Cistadenocarcinoma/epidemiologia , Cistadenocarcinoma/cirurgia , Feminino , Humanos , Incidência , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/cirurgia , Gravidez , Complicações Neoplásicas na Gravidez/epidemiologia , Complicações Neoplásicas na Gravidez/cirurgia , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Teratoma/epidemiologia , Teratoma/cirurgia
8.
BMJ Case Rep ; 13(2)2020 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-32094234

RESUMO

A 72-year-old man presented to our service with sudden onset right-sided weakness, aphasia and gaze palsy with diplopia. CT angiogram demonstrated an acute thrombotic occlusion of the distal basilar artery, a basilar infarct and the patient underwent successful thrombectomy. ECG and telemetry demonstrated slow atrial fibrillation (AF). His transthoracic echocardiogram (TTE) showed a reduced ejection fraction of 25% with global hypo-kinesis, a dilated left ventricle (LV) and LV hypertrophy (LVH). Repeat TTE appeared suspicious for an infiltrative cardiomyopathy with LVH and a speckled appearance to the myocardium. Approximately 10 months later, he suffered another ischaemic stroke post-elective cardioversion for AF while on anticoagulation. Cardiac MRI demonstrated areas of delayed gadolinium enhancement consistent with amyloidosis. Fat pad biopsy was positive for amyloidosis. Our patient has made an excellent recovery from the ischaemic strokes and is being managed in our heart failure clinic.


Assuntos
Amiloidose/diagnóstico , Isquemia Encefálica/etiologia , Cardiopatias/etiologia , Idoso , Ecocardiografia , Coração/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino
9.
Arch Gynecol Obstet ; 280(5): 793-7, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19271230

RESUMO

OBJECTIVE: To evaluate the maternal and fetal outcome in pregnant women with sickle cell disease and to highlight the complications encountered during pregnancy and delivery at a university hospital in the Eastern Saudi Arabia. STUDY DESIGN: A retrospective study of 255 pregnancies in 145 patients with sickle cell disease (SCD) over an 8-year-period analyzed the perinatal complications and maternal and fetal outcomes compared with a control group of 500 Saudi females with the normal hemoglobin phenotype selected randomly that matched for age, parity and delivered during the study period. RESULTS: The incidence of SCD was 1.3% of all deliveries with one maternal death (0.4%) and a perinatal mortality rate of 78.2/1,000 deliveries in the series. The major maternal complications in the 255 pregnancies were anemia 84.3%, sickle cell crisis 44.3% (26.6% painful and 17.7% hemolytic crises), infection 45.9%, fetal growth restriction 20.1%, preterm delivery 12.6%, and pregnancy-induced hypertension 10.6%. Blood transfusion was necessary in 34% pregnancies. Stillbirths accounted for 63% of the perinatal mortality. CONCLUSIONS: Saudi women with SCD are at a greater risk of morbidity and mortality in pregnancy than previously reported, with a high perinatal mortality rate. Early booking, meticulous antenatal care and supervised hospital delivery will improve the maternal and fetal outcomes in these patients.


Assuntos
Anemia Falciforme/patologia , Complicações Hematológicas na Gravidez/patologia , Adulto , Anemia/patologia , Peso ao Nascer , Feminino , Retardo do Crescimento Fetal/patologia , Humanos , Hipertensão Induzida pela Gravidez/patologia , Recém-Nascido , Trabalho de Parto Prematuro/patologia , Gravidez , Resultado da Gravidez , Cuidado Pré-Natal/métodos , Estudos Retrospectivos , Arábia Saudita , Adulto Jovem
10.
Phys Med ; 62: 13-19, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31153393

RESUMO

PURPOSE: The present work aimed to evaluate organ doses and related risk for cancer from external beam radiation treatment (EBRT) and high-dose-rate (HDR) brachytherapy (BT) involving Co-60 source for patients with cervical carcinoma in Tanzania based on Monte Carlo methods and to evaluate the secondary cancer risks in their lifetime. METHODS: EBRT and HDR-BR were modelled by using the MCNPX Monte Carlo (MC) code. The MC simulations were performed by using validated models and isocentric irradiation of an adult female computational phantom. The organ doses and cancer risks estimates were obtained. RESULTS: The highest absorbed doses of 6.98 × 10-2 and 5.74 × 10-2 Sv/Gy were recorded in the bladder for BT and EBRT. The higher risk was found for colon at 1.06 × 10-3 in the HDR-BT and 9.75 × 10-5 in the EBRT per 100,000 population at exposure age of 35 years than in the other organs. The risk magnitude decreased with increasing age at exposure. In general, the secondary cancer risks in all sites considered from EBRT and HDR-BR for cervical cancer patient were lower than the baseline risks. CONCLUSIONS: The chances of developing secondary cancer take years following radiation therapy are extremely low, but the results of present study can support to establish a future database on secondary cancer risks involving radiation therapy in patients with cervical cancer by using HDR-BR and EBRT with Co-60 source in Tanzania and other developing countries.


Assuntos
Radioisótopos de Cobalto/efeitos adversos , Método de Monte Carlo , Neoplasias Induzidas por Radiação/etiologia , Fótons/efeitos adversos , Doses de Radiação , Espalhamento de Radiação , Neoplasias do Colo do Útero/radioterapia , Braquiterapia/efeitos adversos , Radioisótopos de Cobalto/uso terapêutico , Feminino , Humanos , Pessoa de Meia-Idade , Segunda Neoplasia Primária/etiologia , Órgãos em Risco/efeitos da radiação , Fótons/uso terapêutico , Dosagem Radioterapêutica , Risco , Tanzânia
11.
Am J Case Rep ; 20: 525-530, 2019 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-30988275

RESUMO

BACKGROUND Intraosseous cavernous skull hemangiomas are rare benign vascular tumors that are usually found incidentally on imaging, with an asymptomatic and slow-growing course. We present a case in which the patient had a mass on her forehead for many years, which began to grow rapidly after head trauma. Imaging characteristics play a crucial role in the diagnosis and description of this disease, and in differentiating it from other more common calvarial lesions that may present with a similar clinical picture. Here, we report an unusual presentation of a large skull hemangioma and discuss the different radiologic imaging findings and pathologic correlations. CASE REPORT A 58-year-old female with history of a lump on her forehead since childhood, which began to grow rapidly after experiencing a closed-head injury. Due to its large size, she went on to seek further management. Radiologic images revealed a frontal skull lesion suggestive of an intraosseous hemangioma. She underwent embolization of the tumor, and 2 days later underwent bilateral frontal craniectomy and cranioplasty. Histopathologic findings confirmed this diagnosis. CONCLUSIONS Intraosseous skull hemangioma may be confidently diagnosed and differentiated from other skull lesions by its imaging characteristics. An accurate diagnosis is essential to selecting correct management and avoiding complications.


Assuntos
Hemangioma Cavernoso/diagnóstico por imagem , Hemangioma Cavernoso/patologia , Neoplasias Cranianas/diagnóstico por imagem , Neoplasias Cranianas/patologia , Feminino , Traumatismos Cranianos Fechados/complicações , Hemangioma Cavernoso/cirurgia , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Neoplasias Cranianas/cirurgia , Tomografia Computadorizada por Raios X
12.
Radiat Prot Dosimetry ; 179(3): 263-270, 2018 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-29216393

RESUMO

The use of 60Co teletherapy unit for the treatment of unilateral retinoblastoma (Rb) patients is a very common procedure in many developing countries including Tanzania. The aim of this study was to estimate organ-specific absorbed doses from an external beam radiation therapy 60Co unit for unilateral Rb and to assess the risks of the patients developing a secondary primary cancer. The absorbed dose estimations were based on a Monte Carlo method and a set of age-dependent computational male phantoms. The estimated doses were used to calculate the secondary cancer risks in out-of-field organs using the Biological Effects of Ionising Radiation VII risk models. The survival information and baseline cancer risks were based on relevant statistics for the Tanzanian population. The resulting out-of-field organ doses data showed that organs which are close to the target volume, such as the brain, salivary glands and thyroid glands, received the highest absorbed dose from scattered photons during the treatment of Rb. It was also found that the resulting photons dose to specific organs depends on the patient's age. Younger patients are more sensitive to radiation and also received higher dose contributions from the treatment head due to a larger part of the body exposed to the photon radiation. In all sites considered, the overall risks associated with radiation-induced secondary cancer were relatively lower than the baseline risks. Thus, the results in this article can help to provide good estimations of radiation-induced secondary cancer after radiation treatment of unilateral Rb using 60Co teletherapy unit in Tanzania and other developing countries.


Assuntos
Radioisótopos de Cobalto/efeitos adversos , Método de Monte Carlo , Neoplasias Induzidas por Radiação/epidemiologia , Segunda Neoplasia Primária/epidemiologia , Órgãos em Risco/efeitos da radiação , Imagens de Fantasmas , Retinoblastoma/radioterapia , Adulto , Criança , Pré-Escolar , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Neoplasias Induzidas por Radiação/etiologia , Segunda Neoplasia Primária/etiologia , Dosagem Radioterapêutica , Tanzânia/epidemiologia
13.
J Pharm Anal ; 7(1): 48-55, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29404017

RESUMO

A suitable liquid chromatography quadrupole time-of-flight mass spectrometric (LC-Q-TOF-MS) method was developed for separation and characterization of related substances in bacitracin test drug. The separation was performed on LiChrospher RP-18 column using methanol as mobile phase A and 0.2% ammonium acetate buffer solution as mobile phase B in gradient elution. A total of 12 related substances were detected through high resolution mass spectrometric determination in a positive electrospray ionization mode. They were identified as co-existing active components and degradation products of bacitracin through the analysis and elucidation of both the protonated parents and the product ions of all the related substances and their fragmentation pathways were also proposed.

14.
PLoS Negl Trop Dis ; 10(6): e0004690, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-27336736

RESUMO

Surgical intervention is an integral component in the diagnosis and management of mycetoma. Surgical treatment is indicated for small, localised lesions and massive lesions to reduce the mycetoma load and to enable better response to medical therapy. It is also a life-saving procedure in patients with massive disease and sepsis. Surgical options for mycetoma treatment range from a wide local surgical excision to repetitive debridement excisions to amputation of the affected part. Adequate anaesthesia, a bloodless field, wide local excision with adequate safety margins in a suitable surgical facility, and expert surgeons are mandatory to achieve the best surgical outcome. Surgical intervention in mycetoma is associated with considerable morbidity, deformities, and disabilities, particularly in advanced disease. These complications can be reduced by educating patients to seek medical advice earlier when the lesion is small, localised, and amenable to surgery. There is no evidence for mycetoma hospital cross infection. This communication is based on the authors' experience in managing over 7,200 mycetoma patients treated at the Mycetoma Research Centre, University of Khartoum, Sudan.


Assuntos
Micetoma/cirurgia , Amputação Cirúrgica , Desbridamento , Humanos , Micetoma/epidemiologia , Sudão/epidemiologia
15.
Front Genet ; 6: 288, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26442106

RESUMO

The molecular basis of cancer and cancer multiple phenotypes are not yet fully understood. Next Generation Sequencing promises new insight into the role of genetic interactions in shaping the complexity of cancer. Aiming to outline the differences in mutation patterns between familial colorectal cancer cases and controls we analyzed whole exomes of cancer tissues and control samples from an extended colorectal cancer pedigree, providing one of the first data sets of exome sequencing of cancer in an African population against a background of large effective size typically with excess of variants. Tumors showed hMSH2 loss of function SNV consistent with Lynch syndrome. Sets of genes harboring insertions-deletions in tumor tissues revealed, however, significant GO enrichment, a feature that was not seen in control samples, suggesting that ordered insertions-deletions are central to tumorigenesis in this type of cancer. Network analysis identified multiple hub genes of centrality. ELAVL1/HuR showed remarkable centrality, interacting specially with genes harboring non-synonymous SNVs thus reinforcing the proposition of targeted mutagenesis in cancer pathways. A likely explanation to such mutation pattern is DNA/RNA editing, suggested here by nucleotide transition-to-transversion ratio that significantly departed from expected values (p-value 5e-6). NFKB1 also showed significant centrality along with ELAVL1, raising the suspicion of viral etiology given the known interaction between oncogenic viruses and these proteins.

16.
Fam Cancer ; 14(3): 415-25, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25782445

RESUMO

Lynch syndrome (LS) is an inherited form of colorectal cancer (CRC) caused by germline mutations in the mismatch repair (MMR) genes. It accounts for approximately 5% of all CRCs. The prevalence of LS among US Hispanics is unknown. The objective of this study was to describe the germline mutations of LS in Caribbean Hispanics from Puerto Rico and Dominican Republic. A total of 89 subjects were recruited through the Puerto Rico Familial Colorectal Cancer Registry and were classified according to Amsterdam and Bethesda clinical guidelines. For those tumors with lack of expression of MMR protein, gene sequencing was ordered. A total of 35 individuals with deficient MMR system were identified: 22 had MMR mutations and 13 had tumors with absent MMR protein expression. Our results show that the mutation spectrum of Caribbean Hispanic LS patients was composed mostly of MSH2 (66.7%) mutations, followed by MLH1 (25.0%). One mutation was identified in MSH6 (8.3%). A previously unidentified mutation in MLH1 gene c.2044_2045del was found in one Caribbean Hispanic family. MMR mutation-positive individuals were found to be more likely to have a prominent family history of CRC and tumors located at the proximal colon. Compared to MSH2 mutation carriers, MLH1 mutation-positive individuals were more likely to have a strong family history of CRC and LS associated cancers. Furthermore, insurance coverage for genetic testing was found to be limited in the study population with 65.1% of the individuals recruited were denied coverage. This report presents the first description of the mutation spectrum and clinicopathologic characteristics of LS Caribbean Hispanics patients.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/etiologia , Reparo de Erro de Pareamento de DNA/genética , Mutação , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Adulto , Região do Caribe , Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Feminino , Testes Genéticos/economia , Testes Genéticos/métodos , Mutação em Linhagem Germinativa , Hispânico ou Latino/genética , Humanos , Reembolso de Seguro de Saúde , Masculino , Instabilidade de Microssatélites , Pessoa de Meia-Idade , Síndrome de Muir-Torre/genética , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS/genética , Proteína 2 Homóloga a MutS/metabolismo , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Porto Rico
17.
J Reprod Med ; 48(9): 723-8, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-14562639

RESUMO

OBJECTIVE: To analyze the maternal and fetal outcomes of pregnancy and gynecologic problems in women with Marfan syndrome. STUDY DESIGN: The outcomes of 14 pregnancies in 4 women with Marfan syndrome were prospectively observed between January 1988 and December 2000. The cardiovascular and obstetric complications were analyzed. During pregnancy all the patients were carefully monitored with serial echocardiography and close attention to symptoms. RESULTS: Of the 14 pregnancies, 5 (35.7%) ended in abortion, and 3 of them occurred in the early second trimester due to cervical incompetence. Premature onset of labor occurred in 2 pregnancies at 31 and 34 weeks. Postpartum hemorrhage complicated 3 deliveries, and inversion of the uterus occurred in 1 patient. Significant cardiovascular complications occurred in 2 patients, who required surgical correction of the aortic aneurysm and replacement of the aortic valve. In one patient the operation was performed within hours of vaginal delivery, and the other patient underwent surgery 8 weeks postpartum. No maternal death occurred in the study. One infant in the series was diagnosed as having Marfan syndrome. A premature infant delivered at 31 weeks died on the second day of life. CONCLUSION: Women with Marfan syndrome are at high risk of aortic dissection in pregnancy even in the absence of preconceptional aortic root dilatation. Obstetric complications in patients with this condition have been underreported in the past. Women with aortic root dilatation of < 40 mm usually tolerate pregnancy well, with good maternal and fetal outcomes. Women with Marfan syndrome should be counseled regarding the risk of pregnancy to both mother and fetus. Patients who have cardiac decompensation or aortic dilatation > 40 mm are advised to avoid pregnancy.


Assuntos
Síndrome de Marfan/complicações , Complicações na Gravidez , Resultado da Gravidez , Aborto Espontâneo/etiologia , Adulto , Aneurisma Aórtico/complicações , Aneurisma Aórtico/cirurgia , Doenças da Aorta/complicações , Doenças da Aorta/diagnóstico por imagem , Valva Aórtica/cirurgia , Feminino , Idade Gestacional , Humanos , Trabalho de Parto Prematuro/complicações , Hemorragia Pós-Parto/complicações , Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal , Incompetência do Colo do Útero/complicações
18.
Ann Thorac Cardiovasc Surg ; 8(5): 286-90, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12472411

RESUMO

The aim of this study is to measure the level of both the superoxide dismutase (SOD) enzyme and its substrate, superoxide radicals, in the wall of varicose veins. A total of 44 vein specimens were collected from 24 patients who underwent surgery for varicose veins at Asir Central Hospital (ACH), Abha, Saudi Arabia during the period from October 1999 to November 2000. The patients were 4 males and 20 females with a mean age of 35.3+/-SD 10.4 years (15-62 years). At operation, vein specimens were collected from both the stripped, mid-thigh long saphenous vein (LSV) and the avulsed distal calf varicosities, as appropriate. The samples were processed and both the SOD level and the superoxide radicals concentration were estimated using spectrophotometry. The mean SOD level in the distal calf varicosities (14.7+/-6.0 units/mg protein) was significantly higher than that in the mid-thigh LSV (8.2+/-2.9 units/mg protein, P<0.05). The mean superoxide radical concentration in the distal calf varicosities (69.5+/-11.9 nmol/ml) was also significantly higher than that in the mid-thigh LSV (33.8+/-10.5 nmol/ml, P<0.05). These results suggest that superoxide radicals play an important role in the pathogenesis of varicose veins.


Assuntos
Superóxido Dismutase/metabolismo , Superóxidos/metabolismo , Varizes/metabolismo , Veias/química , Adolescente , Adulto , Feminino , Humanos , Peroxidação de Lipídeos , Masculino , Pessoa de Meia-Idade , Varizes/fisiopatologia , Veias/enzimologia
19.
J Matern Fetal Neonatal Med ; 22(12): 1140-3, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19916711

RESUMO

OBJECTIVE: The study evaluated the maternal and fetal outcome in 64 pregnancies complicated by HELLP syndrome. METHODS: A retrospective analysis of the medical records was performed of patients with HELLP syndrome managed at this tertiary Obstetric unit between January 1996 and December 2005, who were admitted for preeclamsia/eclampsia and had documented evidence of hemolysis, elevated liver enzymes and low platelet count. Maternal and neonatal complications were recorded and analyzed. RESULTS: The incidence of HELLP syndrome in the study was 8.3%. Mean gestational age at delivery was 32.4 +/- 4.2 weeks and mean birth weight was 1851 +/- 810 g. Forty-two percent of the patients had deliveries <32 weeks and 28% IUGR. Respiratory distress syndrome was the main indication for NICU admissions (33.9%). The PNM rate was 20%. Maternal morbidity rate was 34%. The most common maternal complications were abruptio placentae (36.4%) and DIC (31.8%). There was no maternal death. CONCLUSION: Once the diagnosis of HELLP syndrome is confirmed, the management depends on several obstetric and maternal variables like gestational age, severity of laboratory abnormalities and fetal status. As soon as the maternal condition is stabilized and fetal assessment is obtained, prompt delivery of the fetus is indicated. It is not yet established whether expectant management in preterm pregnancies with HELLP syndrome would improve perinatal outcome.


Assuntos
Feto , Síndrome HELLP/diagnóstico , Mães , Resultado da Gravidez , Adolescente , Adulto , Comorbidade , Parto Obstétrico/métodos , Feminino , Feto/fisiopatologia , Síndrome HELLP/epidemiologia , Síndrome HELLP/reabilitação , Síndrome HELLP/terapia , Humanos , Idade Materna , Gravidez , Prognóstico , Estudos Retrospectivos , Adulto Jovem
20.
Int J Rheum Dis ; 12(2): 100-6, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20374326

RESUMO

AIM: To measure the level of anti-nucleosome antibodies in systemic lupus erythematosus (SLE) patients, to determine the sensitivity and the specificity of these antibodies in the diagnosis of the disease and to evaluate the relationship between the levels of anti-nucleosome antibodies, anti-dsDNA (double-stranded DNA) and SLE disease activity. METHODS: A cross-sectional study was conducted. All patients attended either a medical specialist clinic or were admitted to the medical wards of Hospital Universiti Sains Malaysia with the diagnosis of SLE (n = 90), other connective tissue diseases (n = 45) or were normal controls (n = 90) within the period from July 2004 until September 2005. They were tested for anti-nucleosome antibodies by enzyme-linked immunosorbent assay and anti-DNA antibodies by immunofluorescence. SLE disease activity was evaluated by SLE disease activity index (SLEDAI) score. RESULTS: Out of 90 SLE patients, anti-nucleosome antibodies were positive in 47 (52.2%) patients, whereas these antibodies were positive in three (6.7%) patients with other connective tissue diseases. Anti-dsDNA antibodies were positive in 33 (36.7%) SLE patients, whereas these antibodies were positive in four (8.9%) patients with other connective tissue diseases. Anti-nucleosome antibodies were positive in 40 (97.6%) patients with active SLE, whereas these antibodies were positive in seven (14.3%) patients with inactive SLE. Anti-nucleosome antibodies had a stronger correlation than anti-dsDNA antibodies with SLEDAI score. There was a significant association between anti-nucleosome antibodies and disease activity. CONCLUSION: Anti-nucleosome antibodies test is highly sensitive and specific for the diagnosis of SLE, especially when the anti-dsDNA antibodies are absent. They are additional disease activity markers in the assessment of SLE disease activity.


Assuntos
Anticorpos Antinucleares/sangue , Biomarcadores/sangue , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/imunologia , Nucleossomos/imunologia , Adolescente , Adulto , Especificidade de Anticorpos , Estudos Transversais , DNA/imunologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Adulto Jovem
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