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Loeys-Dietz syndrome is an autosomal dominant genetic disorder which is associated with significant and often crucial vascular manifestations. This review is aimed to examine current evidence on pathophysiology and management of Loeys-Dietz syndrome in current era. A comprehensive electronic search was done to identify the articles that discussed all the aspects of Loeys-Dietz syndrome, combined key words and Medical Subject Headings (MeSH) terms were used. Relevant articles have been summarized in each relevant section. Loeys-Dietz syndrome is an autosomal dominant genetic disorder which has combined and multi-systemic manifestations. The increased breakdown of extracellular matrix predisposes an individual to developing aneurysms in the aortic tree which is undoubtedly the most significant complication of this disorder. Understanding the pathophysiology and natural history of Loeys-Dietz syndrome and regular surveillance is important to plan prophylactic interventions to prevent life-threatening aortic emergencies which can be fatal. Loeys-Dietz syndrome is an aggressive genetic condition that predisposes an individual to the development of life-threatening aortic aneurysms. Our understanding of Loeys-Dietz syndrome remains ever-changing and it is likely that the knowledge regarding its diagnosis and treatment will become more clearly defined in the coming years with deeper genetic studies.
Assuntos
Aorta/cirurgia , Implante de Prótese Vascular , Procedimentos Endovasculares , Síndrome de Loeys-Dietz/cirurgia , Remodelação Vascular , Adulto , Idoso , Aorta/patologia , Implante de Prótese Vascular/efeitos adversos , Implante de Prótese Vascular/mortalidade , Dilatação Patológica , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/mortalidade , Feminino , Predisposição Genética para Doença , Humanos , Síndrome de Loeys-Dietz/genética , Síndrome de Loeys-Dietz/mortalidade , Síndrome de Loeys-Dietz/patologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Fatores de Risco , Resultado do TratamentoRESUMO
OBJECTIVES: To assess the gaps in the diagnosis and management of dengue fever cases. METHODS: The retrospective descriptive analytical study was done with a case record analysis of patients with dengue fever admitted from January to December 2010 at five tertiary care hospitals in different Pakistani cities. Using a questionnaire, information was gathered on demography, haematological profile, management, use of blood and platelet transfusions and the outcome. For comparison, data of serologically-confirmed dengue patients from a private laboratory in Islamabad was collected to see the age, gender and month-wise distribution of cases tested over the same period. SPSS 16 was used for statistical analysis. RESULTS: Out of the 841 confirmed dengue cases, 514 (79%) were males and 139 (21%) females. The overall mean age was 31.3 +/- 14.0 years. Dengue fever was seen in 653 (78%) and dengue haemorrhagic fever (DHF) in 188 (22%) patients. Most cases were between 20 and 49 years of age. A gradual increase in dengue fever and dengue haemorrhagic fever was seen from August, with a peak in October/November. Tourniquet test was done only in 20 (2.3%) cases, out of which 11 (55%) were positive and 9 (45%) were negative. Serial haematocrit was not done in any case. Total deaths were 5 (0.6%). CONCLUSIONS: Most cases were seen in October/November with the majority being in the 20-39 age group. Tourniquet test and serial haematocrit were infrequently used. No standard national guidelines were employed.
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Dengue/diagnóstico , Dengue/terapia , Adulto , Dengue/epidemiologia , Feminino , Hematócrito , Humanos , Masculino , Pessoa de Meia-Idade , Paquistão/epidemiologia , Estudos Retrospectivos , Estações do Ano , Centros de Atenção Terciária/estatística & dados numéricos , Adulto JovemRESUMO
OBJECTIVE: To evaluate outcomes in cancer patients with ureteral obstruction by comparison of retrograde stenting and percutaneous nephrostomy techniques. METHODS: Systematic review of all studies up to October 2023. Studies were identified from all major databases including MEDLINE, Cochrane, and EMBASE. All comparative studies between retrograde stenting and percutaneous nephrostomy were searched; studies with paediatric populations were excluded. Primary outcomes were procedure and intervention failure rates; secondary outcomes were infection, blockage, displacement, and unplanned exchange rates along with procedure time and length of stay. RESULTS: Eighteen studies with 1228 patients contributed to the summative outcome. Percutaneous nephrostomy was statistically superior to retrograde stenting for procedure failure rate (P <.00001) and intervention failure rate (P =.0004). Retrograde stenting was statistically superior to percutaneous nephrostomy for displacement rates (P = .003), procedure time (P <.00001), and length of stay (P <.00001). Retrograde stenting showed no difference to percutaneous nephrostomy for infection rates (P = .94), blockage rates (P = .93), unplanned exchange rates (P = .48), CONCLUSION: There is no absolute superiority for retrograde stenting or percutaneous nephrostomy for malignant ureteral obstruction. Both techniques have their advantages and disadvantages, with some comparable outcomes; patients are key when selecting the best technique. Larger studies are required to assess the outcomes of both techniques.
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Previous studies widely report the optimization of performance predictions to highlight at-risk students and advance the achievement of excellent students. They also have contributions that overlap different fields of research. On the one hand, they have insightful psychological studies, data mining discoveries, and data analysis findings. On the other hand, they produce a variety of performance prediction approaches to assess students' performance during cognitive tasks. However, the synchronization between these studies is still a black box that increases prediction systems' dependency on real-world datasets. It also delays the mathematical modeling of students' emotional attributes. This review paper performs an insightful analysis and thorough literature-based survey to draw a comprehensive picture of potential challenges and prior contributions. The review consists of 1497 publications from 1990 to 2022 (32 years), which reported various opportunities for future performance prediction researchers. First, it evaluates psychological studies, data analysis results, and data mining findings to provide a general picture of the statistical association among students' performance and various influential factors. Second, it critically evaluates new students' performance prediction techniques, modifications in existing techniques, and comprehensive studies based on the comparative analysis. Lastly, future directions and potential pilot projects based on the assumption-based dataset are highlighted to optimize the existing performance prediction systems.
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Mineração de Dados , Estudantes , Mineração de Dados/métodos , HumanosRESUMO
Endovascular repair of thoracic aortic diseases can provide satisfactory outcomes in elective and certain emergency cases involving the descending thoracic and aortic arch. However, open repair remains the gold standard method of aortic root pathologies and certain aortic arch pathologies, such as extended dissection. Nevertheless, the use of endovascular stenting in patients with connective tissue disorders has not been fully explored because the aortic tissues are fragile and the likelihood of keeping the stent in place is low because of its progressive dilatation and subsequent requirement for open repair at a later stage when the stent graft fails. Our brief review focuses on current evidence of the use of stents in patients with connective tissue disorders and whether such practice can be expanded further.
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Aneurisma da Aorta Torácica , Dissecção Aórtica , Implante de Prótese Vascular , Procedimentos Endovasculares , Dissecção Aórtica/cirurgia , Aorta Torácica/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Prótese Vascular , Tecido Conjuntivo/cirurgia , Humanos , Complicações Pós-Operatórias/cirurgia , Desenho de Prótese , Fatores de Risco , Stents , Resultado do TratamentoRESUMO
More and more Single Nucleotide Polymosrphisms of interest among pathogenic organisms are described with the advent of Whole Genome Sequencing but WGS approach is still too expensive, time consuming, and relying on bioinformatical means that are not available in many developing countries. This study presents a low-cost reverse hybridization line probe technique for detecting SNPs in Mycobacterium tuberculosis. The proposed test is able to detect mutations in the RRDR of rpoB gene in M. tuberculosis with specificity and sensitivity of 98% and 100%, respectively and for an average cost of less than 3 per sample. The technique proved efficient not only on pure DNA samples extracted from culture isolates but also on crude extracts from clinical samples. The flexibility of the platform allows to get it transformed to any kind of test detection, hence, building a bridge between rich countries performing SNP discovery and countries with high burden that can target these SNPs on the collected samples.
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Mycobacterium tuberculosis/genética , Polimorfismo de Nucleotídeo Único , Tuberculose Resistente a Múltiplos Medicamentos/microbiologia , Antituberculosos/farmacologia , Proteínas de Bactérias/genética , DNA Bacteriano/genética , RNA Polimerases Dirigidas por DNA/genética , Humanos , Testes de Sensibilidade Microbiana/métodos , Mutação , Mycobacterium tuberculosis/efeitos dos fármacos , Hibridização de Ácido Nucleico/genética , Reação em Cadeia da Polimerase/métodos , Sensibilidade e Especificidade , Análise de Sequência de DNARESUMO
OBJECTIVE: To determine the asymptomatic dengue infection in adults of Pakistani population. METHODS: This study was conducted in five major cities (Islamabad, Karachi, Lahore, Multan, and Peshawar) of Pakistan. A total of 5 230 adults aged 18 years and above without a history of dengue fever at any point in their life were enrolled from participating laboratories. Those who were confirmed for dengue previously were excluded. Of the total, 62.6% (n = 3 276) were male with an average age of 34.6 years. Participants were briefed about the objectives of the study, and written consent was obtained to perform dengue IgG test using enzyme linked immunosorbent assay. The brief information related to age, gender and area was also taken on proforma. RESULTS: Overall 32.3% (n = 1 691) was having asymptomatic dengue infection which was 67.5% (n = 756) in Karachi followed by 39.1% (n = 391) in Islamabad, 29.9% (n = 316) in Lahore and 21% (n = 228) in Peshawar and none from Multan. More males were affected with asymptomatic dengue infection than females. The asymptomatic dengue infection was significantly higher in different cities; however, there was no significant difference with respect to age groups. CONCLUSIONS: The asymptomatic dengue infection is higher in cities i.e. Karachi, Islamabad and Lahore which are at risk of developing secondary dengue infections. There is a need of awareness among the public about secondary dengue infection.
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Situs inversus abdominus with rotational anomaly of the intestines is an extremely rare condition. Although intestinal malrotation has been recognized as a cause of obstruction in infants and children and may be complicated by intestinal ischaemia, it is very rare in adults. When it occurs in the adult patient, it may present acutely as bowel obstruction or intestinal ischaemia or chronically as vague intermittent abdominal pain. Herein, we present an acute presentation of a case of situs inversus abdominus and intestinal malrotation with Ladd's band leading to infarction of the intestine in a 32 year old woman.
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Intestinos/irrigação sanguínea , Isquemia/etiologia , Situs Inversus/complicações , Adulto , Evolução Fatal , Feminino , Humanos , Intestinos/anormalidades , Situs Inversus/diagnósticoRESUMO
INTRODUCTION: Biosafety during lab work is an important concern in developing countries. Some critical issues concerning biosafety are lack of training, exceeding workload, working too fast, deciding not to follow safe practices, and skepticism about biohazards. This study aimed to determine biosafety perception and practices of laboratory technicians during routine work in clinical laboratories of Pakistan. METHODOLOGY: A total of 1,782 laboratory technicians were interviewed from major public sector hospitals and a few private hospital laboratories throughout Pakistan. RESULTS: A total of 1,647 (92.4%) males and 135 (7.6%) females participated in the study, with over half (59.7%) having more than five years of work experience. Results showed that 28.4% of the laboratory technicians from Punjab, 35.7% from Sindh, 32% from Balochistan and 38.4% from Khyber Pakhtoon Khawa (KPK) did not use any personal protective equipment. Almost 46% of the respondents (34.2% from Punjab, 61.9% from Sindh, 25.2% from Balochistan and 85% from KPK) said they reused syringes either occasionally or regularly. Furthermore, 30.7% of the respondents said they discard used syringes directly into municipal dustbins. The majority (66.7%) claimed there are no separate bins for sharps, so they throw these in municipal dustbins. Mouth pipetting was reported by 28.3% technicians. Standard operating procedures were not available in 67.2% labs, and accident records were not maintained in 83.4%. No formal biosafety training had been provided to 84.2% of the respondents. CONCLUSION: Laboratory technicians in Pakistan lack awareness of good laboratory practices and biosafety measures, and also face a lack of resources.