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1.
Journal of Zhejiang University. Science. B ; (12): 83-90, 2024.
Artigo em Inglês | WPRIM | ID: wpr-1010599

RESUMO

Hepatocellular carcinoma (HCC) is one of the most common malignancies and is a major cause of cancer-related mortalities worldwide (Forner et al., 2018; He et al., 2023). Sarcopenia is a syndrome characterized by an accelerated loss of skeletal muscle (SM) mass that may be age-related or the result of malnutrition in cancer patients (Cruz-Jentoft and Sayer, 2019). Preoperative sarcopenia in HCC patients treated with hepatectomy or liver transplantation is an independent risk factor for poor survival (Voron et al., 2015; van Vugt et al., 2016). Previous studies have used various criteria to define sarcopenia, including muscle area and density. However, the lack of standardized diagnostic methods for sarcopenia limits their clinical use. In 2018, the European Working Group on Sarcopenia in Older People (EWGSOP) renewed a consensus on the definition of sarcopenia: low muscle strength, loss of muscle quantity, and poor physical performance (Cruz-Jentoft et al., 2019). Radiological imaging-based measurement of muscle quantity or mass is most commonly used to evaluate the degree of sarcopenia. The gold standard is to measure the SM and/or psoas muscle (PM) area using abdominal computed tomography (CT) at the third lumbar vertebra (L3), as it is linearly correlated to whole-body SM mass (van Vugt et al., 2016). According to a "North American Expert Opinion Statement on Sarcopenia," SM index (SMI) is the preferred measure of sarcopenia (Carey et al., 2019). The variability between morphometric muscle indexes revealed that they have different clinical relevance and are generally not applicable to broader populations (Esser et al., 2019).


Assuntos
Humanos , Idoso , Sarcopenia/diagnóstico por imagem , Carcinoma Hepatocelular/diagnóstico por imagem , Músculo Esquelético/diagnóstico por imagem , Aprendizado Profundo , Prognóstico , Radiômica , Neoplasias Hepáticas/diagnóstico por imagem , Estudos Retrospectivos
2.
J Indian Med Assoc ; 2022 Nov; 120(11): 59-62
Artigo | IMSEAR | ID: sea-216633

RESUMO

Although Compartment Syndrome is a common surgical emergency with a plethora of aetiologies, Intravenous extravasation of Computed Tomography (CT) contrast medium causing acute compartment syndrome has been reported very rarely. We present a 61-year-old female who underwent abdominal CT with Intravenous contrast for irreducible, recurrent incisional hernia, presented with persistent excruciating pain and progressive multiple blister formation over the left forearm and hand following intravenous contrast material injection via the left dorsum of the hand. Clinical diagnosis of compartment syndrome was made, X-ray left forearm and hand confirmed soft tissue contrast extravasation. She was taken for emergency decompression fasciotomy of the left forearm and hand compartments, and later partial wound closure and split skin graft into remaining areas were carried out. Clinicians and radiologist should aware of this potential complication for its early recognition, management and prevention.

3.
Annals of the Academy of Medicine, Singapore ; : 236-240, 2022.
Artigo em Inglês | WPRIM | ID: wpr-927477

RESUMO

The prevalence of end-stage kidney disease (ESKD) in Singapore remains high and continues to rise. We continue to face major challenges in containing the rising incidence of ESKD and providing sustainable kidney replacement therapy. Our cost projections provide an insight into the present and future, urging a call to action to augment existing initiatives to address the emergent issues.


Assuntos
Feminino , Humanos , Masculino , Incidência , Falência Renal Crônica/terapia , Prevalência , Terapia de Substituição Renal/efeitos adversos , Singapura/epidemiologia
4.
Annals of Dentistry ; : 34-39, 2021.
Artigo em Inglês | WPRIM | ID: wpr-906567

RESUMO

@#This study is aimed to provide an insight into the types of treatment carried out by postgraduate students in the past 10 years. A retrospective study was carried out between November 2019 and February 2020 by deriving data from postgraduate students’ clinical logbooks of three different cohorts of Master of Clinical Dentistry (Restorative Dentistry in Conservative Dentistry) in 2010, 2013 and 2016. This retrospective data was systematically extracted from the records and tabulated categorically using an Excel spreadsheet (Microsoft Office Excel 2019). A descriptive analysis was carried out to further evaluate the results. Overall, the types of treatment carried out in the field of endodontics and fixed prosthodontics has changed in the past 10 years. An increasing trend is seen in the placement of all ceramic crowns and primary root canal treatment procedures, while a decreasing pattern is evident for secondary root canal procedures and placement of dental bridges.

5.
Mycobiology ; : 406-420, 2021.
Artigo em Inglês | WPRIM | ID: wpr-902741

RESUMO

Gloeostereum incarnatum has edible and medicinal value and was first cultivated and domesticated in China. We sequenced the G. incarnatum monokaryotic strain GiC-126 on an Illumina HiSeq X Ten system and obtained a 34.52-Mb genome assembly sequence that encoded 16,895 predicted genes. We combined the GiC-126 genome with the published genome of G. incarnatum strain CCMJ2665 to construct a genetic linkage map (GiC-126 genome) that had 10 linkage groups (LGs), and the 15 assembly sequences of CCMJ2665 were integrated into 8 LGs. We identified 1912 simple sequence repeat (SSR) loci and detected 700 genes containing 768 SSRs in the genome; 65 and 100 of them were annotated with gene ontology (GO) terms and KEGG pathways, respectively. Carbohydrate-active enzymes (CAZymes) were identified in 20 fungal genomes and annotated; among them, 144 CAZymes were annotated in the GiC-126 genome. The A mating-type locus (MAT-A) of G. incarnatum was located on scaffold885 at 38.9 cM of LG1 and was flanked by two homeodomain (HD1) genes, mip and beta-fg. Fourteen segregation distortion markers were detected in the genetic linkage map, all of which were skewed toward the parent GiC-126. They formed three segregation distortion regions (SDR1–SDR3), and 22 predictive genes were found in scaffold1920 where three segregation distortion markers were located in SDR1. In this study, we corrected and updated the genomic information of G. incarnatum. Our results will provide a theoretical basis for fine gene mapping, functional gene cloning, and genetic breeding the follow-up of G. incarnatum.

6.
Clinical Endoscopy ; : 534-541, 2021.
Artigo em Inglês | WPRIM | ID: wpr-897725

RESUMO

Background/Aims@#More than 100 million people to date have been affected by the coronavirus disease-2019 (COVID-19) pandemic. Patients with COVID-19 have a higher risk of bleeding complications. We performed a systematic review and meta-analysis to evaluate the outcomes of COVID-19 patients with signs and symptoms of acute gastrointestinal bleeding (GIB). @*Methods@#A systematic literature search was carried out for articles published until until November 11, 2020, in the Embase, MEDLINE, Web of Science, and Cochrane Library databases. We included studies on COVID-19 patients with signs and symptoms of GIB. @*Results@#Our search yielded 49 studies, of which eight with a collective 127 patients (86 males and 41 females) met our inclusion criteria. Conservative management alone was performed in 59% of the patients, endoscopic evaluation in 31.5%, and interventional radiology (IR) embolization in 11%. Peptic ulcer disease was the most common endoscopic finding, diagnosed in 47.5% of the patients. Pooled overall mortality was 19.1% (95% confidence interval [CI]; 12.7%-27.6%) and pooled mortality secondary to GIB was 3.5% (95% CI; 1.3%–9.1%). The pooled risk of rebleeding was 11.3% (95% CI; 6.8%–18.4%). @*Conclusion@#The majority of COVID-19 patients with GIB responded to conservative management, with a low mortality rate associated with GIB and the risk of rebleeding. Thus, we suggest limiting endoscopic and IR interventions to those with hemodynamic instability and those for whom conservative management was unsuccessful.

7.
Mycobiology ; : 406-420, 2021.
Artigo em Inglês | WPRIM | ID: wpr-895037

RESUMO

Gloeostereum incarnatum has edible and medicinal value and was first cultivated and domesticated in China. We sequenced the G. incarnatum monokaryotic strain GiC-126 on an Illumina HiSeq X Ten system and obtained a 34.52-Mb genome assembly sequence that encoded 16,895 predicted genes. We combined the GiC-126 genome with the published genome of G. incarnatum strain CCMJ2665 to construct a genetic linkage map (GiC-126 genome) that had 10 linkage groups (LGs), and the 15 assembly sequences of CCMJ2665 were integrated into 8 LGs. We identified 1912 simple sequence repeat (SSR) loci and detected 700 genes containing 768 SSRs in the genome; 65 and 100 of them were annotated with gene ontology (GO) terms and KEGG pathways, respectively. Carbohydrate-active enzymes (CAZymes) were identified in 20 fungal genomes and annotated; among them, 144 CAZymes were annotated in the GiC-126 genome. The A mating-type locus (MAT-A) of G. incarnatum was located on scaffold885 at 38.9 cM of LG1 and was flanked by two homeodomain (HD1) genes, mip and beta-fg. Fourteen segregation distortion markers were detected in the genetic linkage map, all of which were skewed toward the parent GiC-126. They formed three segregation distortion regions (SDR1–SDR3), and 22 predictive genes were found in scaffold1920 where three segregation distortion markers were located in SDR1. In this study, we corrected and updated the genomic information of G. incarnatum. Our results will provide a theoretical basis for fine gene mapping, functional gene cloning, and genetic breeding the follow-up of G. incarnatum.

8.
Clinical Endoscopy ; : 534-541, 2021.
Artigo em Inglês | WPRIM | ID: wpr-890021

RESUMO

Background/Aims@#More than 100 million people to date have been affected by the coronavirus disease-2019 (COVID-19) pandemic. Patients with COVID-19 have a higher risk of bleeding complications. We performed a systematic review and meta-analysis to evaluate the outcomes of COVID-19 patients with signs and symptoms of acute gastrointestinal bleeding (GIB). @*Methods@#A systematic literature search was carried out for articles published until until November 11, 2020, in the Embase, MEDLINE, Web of Science, and Cochrane Library databases. We included studies on COVID-19 patients with signs and symptoms of GIB. @*Results@#Our search yielded 49 studies, of which eight with a collective 127 patients (86 males and 41 females) met our inclusion criteria. Conservative management alone was performed in 59% of the patients, endoscopic evaluation in 31.5%, and interventional radiology (IR) embolization in 11%. Peptic ulcer disease was the most common endoscopic finding, diagnosed in 47.5% of the patients. Pooled overall mortality was 19.1% (95% confidence interval [CI]; 12.7%-27.6%) and pooled mortality secondary to GIB was 3.5% (95% CI; 1.3%–9.1%). The pooled risk of rebleeding was 11.3% (95% CI; 6.8%–18.4%). @*Conclusion@#The majority of COVID-19 patients with GIB responded to conservative management, with a low mortality rate associated with GIB and the risk of rebleeding. Thus, we suggest limiting endoscopic and IR interventions to those with hemodynamic instability and those for whom conservative management was unsuccessful.

9.
Artigo | IMSEAR | ID: sea-206297

RESUMO

Schizophrenia is a severe neuro-developmental psychiatric disorder. Curcumin is a polyphenolic compound extracted from turmeric. It is known for its antioxidant, anti-inflammatory, neuroprotective, and precognitive properties. The purpose of the current study was to evaluate the role of curcumin in scopolamine induced cognitive impairment in animal model of schizophrenia. The elevated plus-maze test was utilised to study the curcumin effect on learning and memory. Curcumin (100 mg/kg, i.p.) was administered daily for 28 days in animals. Behavioural tests such as transfer latency (TL) and spontaneous alteration behaviour was assessed after the last dose of curcumin on the 28th day, followed by biochemical estimations. Present study reported that curcumin showed anti-amnesic effect in animal models of cognitive impairment of schizophrenia. Curcumin reduced the TL compared to toxic control group (scopolamine per se) (P <0.001) in elevated plus maze. In spontaneous alteration behaviour test, curcumin significantly increased percentage alteration and possible alteration as compared to toxic control group (P <0.001). A significant change in acetyl cholinesterase activity, nitrate and oxidative parameters was observed, thus, confirming its anti acetyl cholinesterase, NOS (nitric oxide synthase) inhibition and antioxidant properties (P <0.05). The present study put forward the claim of curcumin as a new and safer therapeutic alternative for the treatment of cognitive impairment in Schizophrenia. The underlying mechanism of this potential effect may be related to anticholinesterase and nitric oxide synthase inhibition activity of curcumin. Further research is warranted for confirming the suggested pathways accountable for memory alleviating effects of curcumin in Schizophrenia.

10.
Osong Public Health and Research Perspectives ; (6): 351-364, 2020.
Artigo em Inglês | WPRIM | ID: wpr-902984

RESUMO

Objectives@#To assess the prevalence of noncommunicable disease (NCD) risk factors and the factors associated with the coexistence of multiple risk factors (≥ 2 risk factors) among adolescent boys and girls in Bangladesh. @*Methods@#Data on selected NCD risk factors collected from face to face interviews of 4,907 boys and 4,865 girls in the national Nutrition Surveillance round 2018-2019, was used. Descriptive analysis and multivariable logistic regression were performed. @*Results@#The prevalence of insufficient fruit and vegetable intake, inadequate physical activity, tobacco use, and being overweight/obese was 90.72%, 29.03%, 4.57%, and 6.04%, respectively among boys; and 94.32%, 50.33%, 0.43%, and 8.03%, respectively among girls. Multiple risk factors were present among 34.87% of boys and 51.74% of girls. Younger age (p < 0.001), non-slum urban (p < 0.001) and slum residence (p < 0.001), higher paternal education (p = 0.001), and depression (p < 0.001) were associated with the coexistence of multiple risk factors in both boys and girls. Additionally, higher maternal education (p < 0.001) and richest wealth quintile (p = 0.023) were associated with the coexistence of multiple risk factors in girls. @*Conclusion@#The government should integrate specific services into the existing health and non-health programs which are aimed at reducing the burden of NCD risk factors.

11.
Osong Public Health and Research Perspectives ; (6): 351-364, 2020.
Artigo em Inglês | WPRIM | ID: wpr-895280

RESUMO

Objectives@#To assess the prevalence of noncommunicable disease (NCD) risk factors and the factors associated with the coexistence of multiple risk factors (≥ 2 risk factors) among adolescent boys and girls in Bangladesh. @*Methods@#Data on selected NCD risk factors collected from face to face interviews of 4,907 boys and 4,865 girls in the national Nutrition Surveillance round 2018-2019, was used. Descriptive analysis and multivariable logistic regression were performed. @*Results@#The prevalence of insufficient fruit and vegetable intake, inadequate physical activity, tobacco use, and being overweight/obese was 90.72%, 29.03%, 4.57%, and 6.04%, respectively among boys; and 94.32%, 50.33%, 0.43%, and 8.03%, respectively among girls. Multiple risk factors were present among 34.87% of boys and 51.74% of girls. Younger age (p < 0.001), non-slum urban (p < 0.001) and slum residence (p < 0.001), higher paternal education (p = 0.001), and depression (p < 0.001) were associated with the coexistence of multiple risk factors in both boys and girls. Additionally, higher maternal education (p < 0.001) and richest wealth quintile (p = 0.023) were associated with the coexistence of multiple risk factors in girls. @*Conclusion@#The government should integrate specific services into the existing health and non-health programs which are aimed at reducing the burden of NCD risk factors.

12.
Natural Product Sciences ; : 158-164, 2020.
Artigo | WPRIM | ID: wpr-836969

RESUMO

Helicobacter pylori is a well-known pathogen that is responsible for gastric disorders. Overcoming of the antibiotic-resistance is a main barrier to treat H. pylori infection. In our search for anti-H. pylori compounds from natural resources, bioactivity-guided isolation on the ethyl acetate fraction of Fraxinus mandshurica bark that had shown anti-H. pylori activity gave twelve compounds (1 - 12) of six coumarins, three phenylethanoids, two secoiridoids, and a lignan using silica gel column chromatography, Sephadex-LH 20, and recrystallization.The chemical structures were identified by spectroscopic data analysis, including 1D, 2D NMR, and mass spectrometry. Among them, compounds 2, 10, and 11 showed moderate growth inhibitory activity against three strains ofH. pylori, compared with positive controls of quercetin and metronidazole. Compounds 5, 6, 8, and 12 exhibited the inhibitory activity against strains 26695 or 43504. This is the first report on the anti-H. pylori activity of this plant and the isolated compounds.

13.
Rev. bras. farmacogn ; 29(6): 695-701, Nov.-Dec. 2019. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1057853

RESUMO

ABSTRACT "Sasam (沙參)" is a crude drug that is defined in the in Korean Herbal Pharmacopoeia as the root of Adenophora triphylla var. japonica (Regel.) Hara or A. stricta Miq., Campanulaceae. The dried roots of the Adenophora spp. are available in markets, and the roots of various species are similar to each other in shape, making it difficult to distinguish one from another using only the outer morphological appearance. Therefore, the present study aimed to establish quality control parameters for pharmacognostic evaluation and differentiation of five Adenophora species and two varieties grown in Korea. Inner morphological evaluation of the root of these plants was accomplished and preliminary chemical analysis was performed by liquid chromatography-mass spectrometry profiling. As a result, significant differences among samples were found in anatomical characteristics such as number and thickness of cork layer, existence of stone cell in cork layer, frequency of vessels, and area of intercellular space. Significant differences were found among the samples in the content of three components including shashenoside I and a new alkyl glycoside, adenophoroside I. These findings could provide the scientific criteria for the proper identification and establishment of standards for the use of "Sasam".

14.
Artigo | IMSEAR | ID: sea-190881

RESUMO

Emphysematous cholecystitis (EC), uncommon but potentially fatal sequelae of acute cholecystitis mainly seen in old-aged patients with high mortality rate, caused by secondary infection of gall bladder with gas-forming enteric organisms. Herein, we report a case of emphysematous gangrenous cholecystitis with perforation and biliary peritonitis in a 76-years-old non-diabetic lady that was successfully managed by surgical intervention coupled with medical. The report of this case highlights the risk of missing this extremely rare but potentially fatal condition once the patient presents in late-stage with concurrent complications like perforation and peritonitis. Therefore, prompt diagnosis and early surgical intervention is imperative are imperative to avoid undesired outcomes.

15.
Artigo | IMSEAR | ID: sea-211260

RESUMO

Background: It is very important to keep the Glucose levels under control continuously and without any holidays. Type 2 diabetes is increasingly common in the industrialized world. Tight glycemic control attempts to rigidly glucose control levels (A1c: 6.5% -7.0% or lower). Maintaining tight glycemic control is lifesaving. Proper counselling, proper nutrition and if regular exercise is done it can result is good glycemic control.Methods: In the present study a total of 350 diabetic patients were selected out of which only 208 participants were eligible for study. Inclusion criteria in the study were 1) Age: men and women between age group 30 years to 70 years and 2) Type 2 Diabetes mellitus with HbA1c between 8 to 10%. Exclusion criteria in the study were 1) Type 1diabetes mellitus, Pre-existing renal, hepatic or cardiac disease, Hba1c >10%. A quadriad was established between patients, personal health worker, dietician and doctor.Results: Participants had regularly followed up and were divided randomly into cases (n = 112) and controls (n = 96). Patient were followed up as per study design it was observed that at the end of 3 months period mean FBS (case group 168.2±26.4 control group 200.8±38.3 p value <0.001) , Mean PPBS (case group 204.8±53.0 control group 271.0±45.5 p value <0.001) and Mean Hba1c (case group 8.7±0.5 control group 8.9±0.6 p value .003) in cases was significantly lower than control group.at the end 6 months it was observed that the mean cholesterol, mean triglyceride, mean LDL and mean VLDL was significantly lower in the cases compared to controls.Conclusions: A systematic approach and close monitoring that increased the adherence to medication, diet, and counselling would help in better glycemic control and prevent long term complication.

16.
Chinese Journal of Traumatology ; (6): 364-367, 2019.
Artigo em Inglês | WPRIM | ID: wpr-805337

RESUMO

A below knee amputation (BKA) requires sufficient stump length for the fitting of a modern prosthesis. In cases of trauma where the levels of injury are unpredictable, achieving sufficient stump length can be a challenge. We described a case report of using the Ilizarov technique for bone lengthening at the residual BKA stump for a patient who sustained a mangled limb following a road traffic accident. Using this technique, we have successfully lengthened the tibial stump adequately for a functioning prosthesis. As shown in this case, we believe that this technique could attain an excellent outcome for a selected group of patients with short residual BKA stump.

17.
Malaysian Journal of Nutrition ; : 309-320, 2019.
Artigo em Inglês | WPRIM | ID: wpr-751261

RESUMO

@# Introduction: This study aimed to determine the relationship of maternal dietary intake with human milk nutritional composition, among Malay mothers during the postpartum period of exclusive breastfeeding. Methods: Human milk samples (20- 30ml) were collected from mothers (n=32) at least once monthly for six months postpartum. Macronutrients and fatty acids contents were determined using proximate analysis and gas chromatography methods, respectively. Maternal dietary intakes were recorded using the multiple-pass diet recall method prior to each milk sampling and were analysed using the Nutritionist ProTM software. Associations between the milk composition and maternal diet were tested using Spearman correlation. Results: The energy content ranged between 49.6-59.2 kcal/100ml, protein 1.3-1.4 g/100ml, carbohydrate 6.5-9.7 g/100ml and total fat 6.5-9.7 g/100ml. The polyunsaturated, monounsaturated, and saturated fatty acids concentrations were 10.5-19.1 %, 40.6-43.5 %, and 38.0-49.7 %, respectively. During confinement (first month postpartum), total energy and total fat content of human milk were the highest whereas total carbohydrate was the lowest, compared to the rest of the exclusive breastfeeding period. In contrast, intakes of total calorie and total fat were the lowest, whereas protein was the highest during this period. However, no associations were detected between human milk nutritional contents and maternal dietary intake. Conclusion: In our study population, the composition of maternal diet and nutritional content of human milk differed between confinement and post-confinement periods. However, the association between maternal diet and human milk composition itself warrants further investigation.

18.
Chinese Journal of Traumatology ; (6): 99-102, 2019.
Artigo em Inglês | WPRIM | ID: wpr-771631

RESUMO

PURPOSE@#There are no previous epidemiological studies to represent the trends of tibia fractures in the urban setting. The purpose of our study was to provide unique epidemiological information on the incidence of tibia fractures requiring admission in the urban population of Singapore.@*METHODS@#This is a retrospective review of clinical and radiological records encompassing three years period from 2012 to 2014 in a tertiary hospital in Northern Singapore, which covers an adult population of 550,000. Clinical information included demographics, mechanism of injury, and Gustillo-Anderson classification. Radiological records were evaluated by two of the authors and fractures were classified using the AO classification after consensus was reached.@*RESULTS@#There were 214 cases of tibia fractures with a population incidence of 13 in 100,000. Among the tibia fractures, 47% were diaphyseal, 43% proximal and 10% distal. Majority of patients were males with a male to female ratio of 3 to 1. The mean age of females was 64 years while that of males was 40 years. The commonest mechanism of injury was road traffic accident, which contributed to 42% of cases, with motorcyclists making up 78% of all road traffic accidents. Compound fractures made up 23% of all fractures, most of which were Gustillo-Anderson type III; 69% of patients underwent surgical intervention.@*CONCLUSION@#The incidence of tibia fractures is 13/100,000 with a male-to-female ratio of 3:1. This incidence is lower than other studies, but the proportion of open fractures were surprisingly high at 23%. Distribution of fractures was unimodal with a peak in younger men and older women. This may signify a component of fragility among tibia fractures, especially proximal and distal fractures, which peaks above the age of 80 years old.


Assuntos
Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Acidentes de Trânsito , Fatores Etários , Hospitalização , Incidência , Pacientes Internados , Radiografia , Estudos Retrospectivos , Fatores Sexuais , Singapura , Epidemiologia , Tíbia , Diagnóstico por Imagem , Fraturas da Tíbia , Classificação , Diagnóstico por Imagem , Epidemiologia , Cirurgia Geral , Fatores de Tempo , População Urbana
19.
Cancer Research and Treatment ; : 992-1000, 2019.
Artigo em Inglês | WPRIM | ID: wpr-763180

RESUMO

PURPOSE: Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of PALB2 mutations in early-onset and familial breast/ovarian cancer patients from Pakistan. MATERIALS AND METHODS: PALB2 mutation screening was performed in 370 Pakistani patients with early-onset and familial breast/ovarian cancer, who were negative for BRCA1, BRCA2, TP53, CHEK2, and RAD51C mutations, using denaturing high-performance liquid chromatography analysis. Mutations were confirmed by DNA sequencing. Novel PALB2 alterations were analyzed for their potential effect on protein function or splicing using various in silico prediction tools. Three-hundred and seventy-two healthy controls were screened for the presence of the identified (potentially) functional mutations. RESULTS: A novel nonsense mutation, p.Y743*, was identified in one familial breast cancer patient (1/127, 0.8%). Besides, four in silico-predicted potentially functional mutations including three missense mutations and one 5' untranslated region mutation were identified: p.D498Y, novel p.G644R, novel p.E744K, and novel c.-134_-133delTCinsGGGT. The mutations p.Y743* and p.D498Y were identified in two familial patients diagnosed with unilateral or synchronous bilateral breast cancer at the ages of 29 and 39, respectively. The other mutations were identified in an early-onset (≤ 30 years of age) breast cancer patient each. All five mutations were absent in 372 healthy controls suggesting that they are disease associated. CONCLUSION: Our findings show that PALB2 mutations account for a small proportion of early-onset and hereditary breast/ovarian cancer cases in Pakistan.


Assuntos
Humanos , Regiões 5' não Traduzidas , Neoplasias da Mama , Cromatografia Líquida , Códon sem Sentido , Simulação por Computador , Reparo do DNA , Mutação em Linhagem Germinativa , Programas de Rastreamento , Mutação de Sentido Incorreto , Paquistão , Prevalência , Análise de Sequência de DNA
20.
Safety and Health at Work ; : 115-124, 2018.
Artigo em Inglês | WPRIM | ID: wpr-713287

RESUMO

BACKGROUND: Substantial empirical research has shown conflicting results regarding the influence of organizational external factors on construction risk management, suggesting the necessity to introduce a moderator into the study. The present research confirmed whether rules and regulations matter on the relationships between organizational external factors and construction risk management. METHODS: Based on discouragement and organizational control theory, this research examined the effects of organizational external factors and rules and regulations on construction risk management among 238 employees operating in construction companies in Abuja and Lagos, Nigeria. A personally administered questionnaire was used to acquire the data. The data were analyzed using partial least squares structural equation modeling. RESULTS: A significant positive relationship between organizational external factors and construction risk management was asserted. This study also found a significant positive relationship between rules and regulations and construction risk management. As anticipated, rules and regulations were found to moderate the relationship between organizational external factors and construction risk management, with a significant positive result. Similarly, a significant interaction effect was also found between rules and regulations and organizational external factors. Implications of the research from a Nigerian point of view have also been discussed. CONCLUSION: Political, economy, and technology factors helped the construction companies to reduce the chance of risk occurrence during the construction activities. Rules and regulations also helped to lessen the rate of accidents involving construction workers as well as the duration of the projects. Similarly, the influence of the organizational external factors with rules and regulations on construction risk management has proven that most of the construction companies that implement the aforementioned factors have the chance to deliver their projects within the stipulated time, cost, and qualities, which can be used as a yardstick to measure a good project.


Assuntos
Humanos , Pesquisa Empírica , Análise dos Mínimos Quadrados , Nigéria , Gestão de Riscos , Controle Social Formal
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