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1.

Background

Field walk tests such as the incremental shuttle walk test (ISWT) are simple tests for assessing the degree of disability in individuals with chronic obstructive pulmonary disease (COPD). In the present study, the correlations between exercise performance in the ISWT, lung function, and health status were examined in patients with COPD of varying severities.

Methods

A retrospective examination of 277 COPD patients was performed using the ISWT and lung function tests along with assessment of health status using St. George?s Respiratory Questionnaire (SGRQ). In addition, we assessed the correlations between the walking distance, lung function parameters, and SGRQ scores.

Results

ISWT distances were poorly correlated with lung function parameters and SGRQ scores in mild COPD patients. In contrast, ISWT distances were significantly correlated with pulmonary function parameters, such as vital capacity (%predicted) and forced expiratory volume in one second, and SGRQ scores in moderate and severe COPD patients.

Conclusions

The ISWT is more independent of health status and pulmonary function in patients with mild COPD compared to moderate or severe cases. Therefore, the exercise capacity of patients with mild COPD should be estimated by the ISWT.  相似文献   

2.

Background

Membranoproliferative glomerulonephritis (MPGN) is an uncommon form of glomerulonephritis and it can be particularly difficult to predict outcomes and manage women with this disorder during pregnancy.

Materials and Methods

The management of 3 successful pregnancies in women with MPGN from 1 center and previously described cases from the world literature are reviewed. This includes a number of large studies of pregnancy in women with underlying glomerular disease as well as small case series and individual reports. Courses of these pregnancies, maternal and fetal outcomes, and management, when described, were included in this review.

Results

Some successful outcomes used antiplatelet therapy and plasmapheresis, but high-dose intravenous, followed by oral, corticosteroid therapy was used most frequently in patients with successful outcomes.

Conclusions

The data provided is meant as a guide for clinicians who provide care for women with MPGN who are considering pregnancy or women who present with this disorder while pregnant.  相似文献   

3.

Background

Dyslipidemia is a risk factor for nonalcoholic fatty liver disease (NAFLD). The aim of our study was to determine the associations of serum lipid indexes with NAFLD in adult males.

Materials and Methods

In this cross-sectional study, 830 patients with NAFLD and 2,357 healthy individuals were assessed. Serum total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol and low-density lipoprotein cholesterol (LDL-C) levels were compared between patients with NAFLD and controls. The associations of dyslipidemia indexes with NAFLD occurrence were assessed by univariate analysis, and multivariate analysis was performed to identify independent dyslipidemia factors predictive of NAFLD.

Results

Of the 3,187 study subjects, NAFLD occurred in 830 (26.04%), there were 504 (60.72%) patients with mild disease and 326 (39.28%) patients with moderate-to-severe disease. Although the frequency of normal TC, TG, LDL-C and high-density lipoprotein cholesterol levels in patients with NAFLD was similar to the controls, the frequencies of patients with NAFLD with marginally high and high TC, TG and LDL-C levels were significantly different when compared with controls. Interestingly, the association of the number of abnormal serum lipid indexes and NAFLD was highly significant with 2 abnormalities (odds ratio = 1.977; 95% CI: 1.436-2.722; P < 0.001) and ≥3 abnormalities (odds ratio = 3.505; 95% CI: 2.466-4.982; P < 0.001).

Conclusions

A significant positive association was found between dyslipidemia characteristics and NAFLD in adult males.  相似文献   

4.

Background

Primary headaches include migraines, tension-type headaches and other primary headache syndromes. Migraines and tension-type headaches are associated with patient discomfort and other diseases. This study aimed to investigate the association between primary headaches and the risk of developing dementia, and to clarify the association between different types of headaches and dementia.

Materials and Methods

We conducted a nationwide matched cohort population-based study. A total of 3,620 patients with newly diagnosed primary headaches, including migraines and tension-type headaches, between January 1 and December 31, 2000 were selected from the National Health Insurance Research Database of Taiwan, along with 10,860 controls matched for sex and age. After adjusting for confounding factors, Fine and Gray?s competing risk analysis was used to compare the risk of developing dementia during 10 years of follow-up.

Results

Of the study subjects, 170 (4.70 %) developed dementia compared with 433 (3.99%) of the controls. Fine and Gray?s competing risk analysis revealed that the study subjects were more likely to develop dementia (hazard ratio = 2.057; 95% CI: 1.718-2.462; P < 0.001). After adjusting for sex, age, monthly income, urbanization level, geographic region of residence and comorbidities, the hazard ratio for dementia was 2.048 (95% CI: 1.705-2.461, P < 0.001). Migraines and tension-type headaches were associated with nonvascular dementia but not vascular dementia.

Conclusions

The patients with headaches had a 105% increased risk of dementia. Further studies are needed to elucidate the underlying mechanisms.  相似文献   

5.

Introduction

The relationship between bronchodilator responsiveness and eosinophilic airway inflammation has not been well documented in COPD. It has been investigated in this retrospective study. This issue has grown in importance due to increasing interest in the asthma-COPD overlap syndrome.

Methods

264 stable COPD patients with no past history of asthma were retrospectively analyzed. Correlation analyses between FEV1 reversibility and sputum eosinophil levels were conducted. Sputum eosinophil levels were dichotomized using FEV1 reversibility cut-off points (>0.4 L and >15% vs. >0.2 L and >12%) and compared. The effectiveness of FEV1 reversibility to predict sputum eosinophilia (>3%) was analyzed with a logistic regression and a ROC analysis.

Results

82 (31.1%) patients with higher FEV1 reversibility values (0.14 vs. 0.11 L, P=.01) presented sputum eosinophilia. FEV1 reversibility was weakly correlated with the sputum eosinophil level (r = 0.162, P=.008). Patients with FEV1 > 0.4 L and >15% increment had higher sputum eosinophil levels (6.11 vs. 1.02%, P=.049) whereas the level did not differ when dichotomized by FEV1 increment >0.2 L and >12%. Very positive FEV1 reversibility (>0.4 L and >15%) predicted sputum eosinophilia after adjustment forage, baseline FEV1 and FVC (OR: 4.262, P=.029). In the ROC analysis, the AUC was 0.58 (P=.034), and FEV1 increment > 0.4 L and >15% had a positive predictive value of 63.6% and an overall accuracy of 70.1%.

Conclusions

FEV1 reversibility was weakly correlated with sputum eosinophil levels in COPD. Positive FEV1 reversibility (>0.4 L and >15%) is moderately successful in predicting sputum eosinophilia (>3%).  相似文献   

6.

Objective

To explore a model of Internet-based integrated management of diabetes, we established a remote diabetes medical service platform (U-Healthcare) and evaluated its effectiveness and practicality.

Materials and Methods

In total, 212 patients with type 2 diabetes mellitus were randomly assigned to 2 groups. Data from the intervention group were automatically transmitted through a glucometer; furthermore, this group received information regarding medicines, diet, exercise and other management through U-Healthcare. The control group received conventional medical treatment without any additional intervention. All patients were regularly followed up every 3 months for half a year.

Results

At the 3-month follow-up, fasting plasma glucose levels of the intervention group were significantly lower than those at the baseline as well as those of the control group. Triglyceride levels of the intervention group were much lower than those at the baseline. At the 6-month follow-up, 2-hour postprandial plasma glucose levels of the intervention group significantly improved compared with those of the control group. HbA1c levels gradually decreased every 3 months in the intervention group, and the mean change in the levels was significantly greater in this group than in the control group (from 1.27-0.68%). At the end of the study, more than 80% of the patients in the intervention group adhered to blood glucose monitoring 2-3 days per week, and their compliance degree was 72%.

Conclusions

The Internet-based U-Healthcare system of integrated management in diabetes not only achieved better glycemic control, effectively improved HbA1c levels and decreased triglyceride levels but also enhanced patients’ adherence to the medical team’s instructions.  相似文献   

7.

Objective

To describe the evidence- and experience-based expert consensus on the use of single-agent bronchodilators in patients with stable mild-moderate chronic obstructive pulmonary disease (COPD).

Methods

Using Delphi methodology, a panel of 7 respiratory medicine experts was established, who, in the first nominal group meeting defined the scope, users, and document sections. The panel drew up 14 questions on the use of single-agent bronchodilators in patients with mild-moderate stable COPD to be answered with a systematic review of the literature. The results of the review were discussed in a second nominal group meeting and 17 statements were generated. Agreement/disagreement with the statements was tested among16 different experts including respiratory medicine experts and primary care physicians. Statements were scored from 1 (total disagreement) to 10 (total agreement). Agreement was considered if at least 70% voted ≥ 7. The level of evidence and grade of recommendation of the systematic literature review was assessed using the Oxford Centre for Evidence-based Medicine levels.

Results

A total of 12 of the 17 statements were selected. Specific statements were generated on different profiles of patients with stable mild-moderate COPD in whom single-agent bronchodilators could be prescribed.

Conclusions

These statements on the use of single-agent bronchodilators might improve the outcomes and prognosis of patients with stable mild-moderate COPD.  相似文献   

8.

Objectives

The purpose of this study was to compare the effects of skin cleaning with 5% NaHCO3 to 75% alcohol on the removal of skin grease and pain of patients with central venous catheters (CVC).

Materials and Methods

This was a randomized, controlled, single-blinded and prospective study. From January-September 2015, 143 consecutive patients who met the inclusion and exclusion criteria and who underwent elective cardiovascular surgery with placement of a CVC were selected. Patients were randomly divided into 2 groups according to the disinfection preparation procedure: experimental group (n = 60), in which 5% NaHCO3 and distilled water solution at 40-45°C were used, and the control group (n = 66), in which 75% alcohol was used. Main outcome measures were verbal rating scale pain score, satisfaction and bacterial count after 2 minutes of iodine disinfection.

Results

The verbal rating scale pain scores were lower in the experimental group than in the control group (P < 0.001). In the control group, 4.5% of patients and 43% of nurses were satisfied with 75% alcohol cleaning before disinfection procedure, compared to 74% and 78%, respectively, in the experimental group. The bacterial count did not show any difference between these 2 groups after iodine disinfection (P = 0.455).

Conclusions

Cleaning of the CVC before disinfection with 5% NaHCO3 and distilled water at 40-45°C alleviated pain and improved patient and nurse satisfaction compared with using 75% alcohol.  相似文献   

9.

Background

Organizing pneumonia (OP) is a histopathological response pattern to lung inflammation. It is clinically classified into cryptogenic OP and secondary OP, which is associated with various clinical conditions. Rapid resolution with corticosteroids and frequent relapses are common in OP. However, few studies have investigated the factors associated with OP relapse.

Methods

The medical records of 75 patients with biopsy-proven OP, diagnosed between January 2010 and August 2015, who underwent corticosteroid therapy were retrospectively reviewed. Initially, the patients were all treated successfully; however, 31 patients experienced relapse thereafter (R group), whereas the others did not (NR group; 44 patients). The clinical, radiological, and pathological characteristics and administered corticosteroid doses were compared between the two groups.

Results

The neutrophil percentage in the bronchoalveolar lavage (BAL) fluid and the level of fibrin deposition in lung biopsy specimens were higher in the R group than in the NR group (P=0.01 and P=0.002, respectively). The multivariate analysis demonstrated that both factors were statistically significant predictors of OP relapse.

Conclusions

A high neutrophil percentage in the BAL and the level of fibrin deposition in lung biopsy specimens are considered predictive factors of OP relapse during the tapering or after the cessation of steroid therapy. Patients without these findings may be treated with low-dose corticosteroids.  相似文献   

10.

Background

We attempted to clarify whether the presence of anti-aminoacyl-transfer RNA synthetase antibody (anti-ARS Ab) or anti-melanoma differentiation-associated gene 5 antibody (anti-MDA5 Ab) is associated with the therapeutic response of polymyositis/dermatomyositis-associated interstitial lung disease (PM/DM-ILD).

Methods

We retrospectively investigated 22 patients with PM/DM-ILD (10 positive for anti-ARS Ab and nine positive for anti-MDA5 Ab) for whom antibody analysis of conserved serum was possible. We assessed mortality in the first three months as the therapeutic response in the acute phase and compared changes in clinical data for up to one year considered as the chronic phase. We classified the clinical changes over the year into three groups: Improvement (increased % vital capacity [%VC] or diffusing capacity of the lung for carbon monoxide [%DLCO]≥10 or 15%), deterioration (decreased %VC or %DLCO≥10 or 15%), and no change (remainder of the changes). The extent of abnormality demonstrated by high-resolution computed tomography (HRCT) was scored.

Results

Positivity for anti-MDA5 Ab, but not for anti-ARS Ab, was associated with mortality in the first 3 months. Evaluation of the therapeutic response in the first year showed that positivity for the anti-ARS Ab, but not for the anti-MDA5 Ab, was associated with an improvement in %DLCO and a decline in the serum KL-6 levels. Positivity for the anti-ARS Ab or negativity for anti-MDA5 Ab was associated with a greater decrease in bronchial dilatation as seen by HRCT.

Conclusions

Anti-ARS and anti-MDA5 Abs are associated with the therapeutic response of PM/DM-ILD.  相似文献   

11.

Background

Percutaneous renal biopsy is essential for diagnosis of many renal diseases. Previous studies have revealed a variety of factors associated with bleeding complications of renal biopsy; however, data are not sufficient in the Chinese population. We aimed to investigate the risk factors for severe post-biopsy bleeding events in a large cohort of Chinese patients.

Materials and Methods

The data of patients who underwent percutaneous renal biopsy from January 2008 to December 2012 were collected. Severe bleeding complication was defined as requiring intervention, including blood transfusion or an invasive procedure (radiological or surgical) due to bleeding. Logistic regression analysis was used to assess risk factors.

Results

Over the 5-year period, 3,577 native kidney biopsies were performed. Severe bleeding complication occurred in 14 biopsies (0.39%). The patients with complications were older, had higher blood pressure, lower hemoglobin, lower platelet count and worse renal function. Multivariable logistic regression demonstrated that platelet level and the estimated glomerular filtration rate were independently associated with the risk of complications. Each 10 × 109/L increase of platelet count was associated with an 11% decrease of severe bleeding risk (odds ratio = 0.89; 95% CI: 0.80-0.98; P = 0.02). Each 1 mL/minute/1.73 m2 increase of the estimated glomerular filtration rate was associated with a 4% decrease of severe bleeding risk (odds ratio = 0.96; 95% CI: 0.94-0.99; P = 0.004).

Conclusions

Patients with worse renal function and lower platelet counts had a higher risk of developing severe bleeding events after renal biopsy.  相似文献   

12.

Background

Percutaneous coronary intervention (PCI) has been the main therapy in acute coronary syndromes, and early antithrombotic agents as well as 1-year dual antiplatelet therapy are required for adjuvant therapy. However, the development of post-PCI gastrointestinal (GI) bleeding may increase all-cause mortality. We compared the characteristics and outcomes of patients with GI bleeding within 1 year after PCI to those who did not develop bleeding.

Methods

A retrospective cohort study was conducted using data from 384 PCI procedures performed between January 2011 and December 2013 at our hospital. End points were identified after 30 days, 90 days and 1 year postprocedure for evidence of GI bleeding or new onset anemia. Variables were compared between patients with and without GI bleeding using t test and Fisher exact test. Kaplan-Meier curve was constructed for estimating bleeding-free survival probability.

Results

In a more than 1-year follow-up period, there were 39 cases (10.2%, 95% CI: 0.073-0.136) of documented GI bleeds. Females were found to have a significantly higher frequency of GI bleeding than males (16.8% vs. 8.0%, P = 0.018), and Hispanics more than non-Hispanics (11.7% vs. 1.7%, P = 0.017). All patients with GI bleeding survived at 1 year.

Conclusion

In our study of a predominantly Hispanic population, a high incidence of GI bleeding after PCI occurred. However, there was no association between the incidence of GI bleeding and all-cause mortality, whether PCI was performed in the setting of acute coronary syndrome or as an elective procedure. There is a need to conduct a larger prospective study to validate the findings of our study.  相似文献   

13.

Background

Although tobacco smoke is the main risk factor for chronic obstructive pulmonary disease (COPD), other inhaled toxics have also been associated with the disease. The present study analyzes data from exposure to these substances in a cohort of patients with COPD and assesses their impact on the clinical presentation of the disease.

Methods

This is a cross-sectional analysis of the Clinical presentation, diagnosis and course of chronic obstructive pulmonary disease (On-Sint) study. All patients were smokers or ex-smokers as per protocol. In addition, during the inclusion visit patients were enquired about their occupational and biomass exposure history. The clinical features of patients with and without an added risk factor to tobacco were compared and those significant were entered in a multivariate logistic regression analysis, expressed as odds ratio (OR).

Results

The sample size was 1214 patients with COPD, of which 1012 (83.4%) had tobacco as the only risk factor and 202 (16.6%) had additional ones, mainly 174 (14.3%) with occupational gases and 32 (2.6%) with biomass exposure. The geographical distribution of this exposure showed a preference for the northern parts of the country and the East coast. The biomass exposure was rather low. Male gender (OR: 2.180), CAT score (OR: 1.036) and the use of long-term oxygen therapy (OR: 1.642) were associated with having an additional risk factor in the multivariate analysis.

Conclusions

Occupational exposures are more common than biomass in Spain. COPD caused by tobacco plus other inhalants has some differential features and a more impaired quality of life.  相似文献   

14.

Introduction

The clinical benefits of adjunctive corticosteroids for Pneumocystis jirovecii (P. jirovecii) pneumonia in patients not infected with the human immunodeficiency virus (HIV) has not been evaluated by meta-analysis.

Methods

We conducted a systematic review of published studies describing the effects of adjunctive corticosteroids on outcome in non-HIV P. jirovecii pneumonia patients. Two investigators independently searched the PubMed and Cochrane databases for eligible articles written in English. A meta-analysis was performed using a random-effects model for measuring mortality as the primary outcome, and the need for intubation or mechanical ventilation as the secondary outcome.

Results

Seven observational studies were eligible. In these studies, adjunctive corticosteroids did not affect mortality in non-HIV patients (odds ratio [OR] 1.26; 95% CI 0.60-2.67) and there was no beneficial effect in patients with severe hypoxemia (PaO2 < 70 mmHg) (OR 0.90; 95% CI 0.44-1.83). No significant effect on the secondary outcome was observed (OR 1.34; 95% CI 0.44-4.11).

Conclusions

Although the studies were observational, meta-analysis showed that adjunctive corticosteroids did not improve the outcome of P. jirovecii pneumonia in non-HIV patients. The results warrant a randomized controlled trial.  相似文献   

15.

Objectives

Data regarding coexisting pulmonary thromboembolism (PTE) in patients with tuberculosis are limited. The aim of this study was to investigate the clinical features of coexisting PTE in patients with respiratory tuberculosis.

Methods

Clinical parameters were retrospectively compared between the tuberculosis group (PTE and coexisting respiratory tuberculosis) and unprovoked or provoked group selected from a single institution in South Korea, a country that has an intermediate tuberculosis burden.

Results

Twenty-four patients with PTE and concomitant respiratory tuberculosis were identified. These patients accounted for 1.0% of 2,386 patients with respiratory tuberculosis and 2.8% of 867 PTE patients who were enrolled over the same period. Compared with the unprovoked group, the tuberculosis group had significantly lower body mass index, higher levels of blood inflammatory markers and higher pulmonary embolism severity index (PESI) with a higher incidence of high PESI class (≥3). The tuberculosis group had a significantly lower incidence of central PTE than the unprovoked group, but the rate of right ventricular dilation on computed tomography scan was not significantly different between the 2 groups. Adverse outcomes, PTE-related in-hospital mortality and the recurrence of venous thromboembolism were not significantly different between the tuberculosis and unprovoked or provoked group.

Conclusions

The coexistence of PTE and respiratory tuberculosis rarely occurred in clinical practice. Compared with unprovoked PTE, PTE with respiratory tuberculosis is characterized by lower body mass index, higher levels of blood inflammatory markers, higher PESI and less frequent central PTE, but it is not associated with any differences in outcomes caused by PTE.  相似文献   

16.

Background

Pulmonary fibrosis (PF) is a destructive pulmonary disease and the molecular mechanisms underlying PF are unclear. This study investigated differentially expressed proteins associated with the occurrence and development of PF in rat lung tissue with bleomycin-induced PF.

Methods

Sixteen Sprague-Dawley rats were randomly divided into 2 groups: the PF model group (n = 8) and the control group (n = 8). After successfully establishing the rat PF model induced by bleomycin, the differentially expressed proteins in the 2 groups were identified through isobaric tag for relative and absolute quantitation coupled with liquid chromatography-mass spectrometry and bioinformatics analysis.

Results

A total of 146 differentially expressed proteins were identified; 88 of which displayed increased abundance and 58 were downregulated in the PF rat model group. Most functional proteins were associated with extracellular matrix, inflammation, damage response, vitamin A synthesis and metabolism. Critical proteins related to PF development and progression was identified, such as type V collagen-3, arachidonic acid 12-lipoxygenase, arachidonic acid 15-lipoxygenase and cytochrome P4501A1. Kyoto Encyclopedia of Genes and Genomes pathway analysis showed that these differentially expressed proteins were enriched in extracellular matrix receptor interaction pathway, renin-angiotensin system and metabolic pathway of retinol.

Conclusions

The proteins expressed in bleomycin-induced PF rat model provide important data for further functional analysis of proteins involved in PF.  相似文献   

17.

Introduction

Urine cultures are commonly ordered in geriatric patients presenting with fever in the emergency department, but it is unclear if indiscriminate urine culture testing is warranted.

Materials and Methods

We selected 708 consecutive geriatric patients with a chief complaint of fever to determine the clinical usage (changes in antibiotic therapy according to culture results) and the costs of culturing the urine that included the need for catheterization to obtain a sample for culture and complications from catheterization. We divided the patients into those with and without an extraurinary tract source for fever on admission.

Results

Urine cultures were performed in 74.9% (233/312) of the patients with a source for the fever outside the urinary tract and required urinary catheterization to obtain a sample in 36.8% (95/233) of those patients. Cultures were positive for bacteria 29.6% of the time (69/233), but did not result in the change of antibiotic treatment in any of the patients. Urine cultures were performed in 92.6% (326/352) of the patients without an extraurinary tract source for the fever, required catheterization in 49.7% (162/326) of the patients and 58.3% (190/326) of the cultures were positive for bacteria. Urine culture sensitivities changed antibiotic therapy in 24.2% (46/190) of the patients. There were no patients in either group with complications from urinary catheterization, but indwelling catheter rates increased inappropriately in both the groups.

Conclusions

We conclude that urine culture testing is unnecessary in hospitalized geriatric patients who on admission have an extraurinary tract source for their fever, but it has clinical usage when the source for the fever on admission is unclear.  相似文献   

18.

Background

The impact of central venous catheter (CVC) removal on the outcome of patients with candidemia is controversial, with studies reporting discrepant results depending on the time of CVC removal (early or any time during the course of candidemia).

Objective

Evaluate the effect of time to CVC removal, early (within 48 h from the diagnosis of candidemia) vs. removal at any time during the course of candidemia, on the 30-day mortality.

Methods

Retrospective cohort study of 285 patients with candidemia analyzing CVC removal within 48 h (first analysis) or at any time (second analysis).

Results

A CVC was in place in 212 patients and was removed in 148 (69.8%), either early (88 patients, 41.5%) or late (60 patients, 28.3%). Overall, the median time to CVC removal was one day (range 1–28) but was six days (range 3–28) for those removed later. In the first analysis, APACHE II score (odds ratio [OR] 1.111, 95% confidence interval [95% CI] 1.066–1.158), removal at any time (OR 0.079, 95% CI 0.021–0.298) and Candida parapsilosis infection (OR 0.291, 95% CI 0.133–0.638) were predictors of 30-day mortality. Early removal was not significant. In the second analysis APACHE II score (OR 1.122, 95% CI 1.071–1.175) and C. parapsilosis infection (OR 0.247, 95% CI 0.103–0.590) retained significance.

Conclusions

The impact of CVC removal is dependent on whether the optimal analysis strategy is deployed and should be taken into consideration in future analyses.  相似文献   

19.

Background

Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency).

Methods

A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature. Upon admission to our facility, her phenotype led to a suspicion of LS; accordingly, serum levels of IGF-1 and IGF binding protein 3 were analyzed and a GH stimulation test was performed. In addition, we used a next-generation sequencing approach for a molecular evaluation of FA disease-causing mutations and genes involved in the GH-IGF signaling pathway.

Results

Tests revealed low levels of IGF-1 and IGF binding protein 3 that remained within normal ranges, as well as a lack of response to GH stimulation. Sequencing confirmed a defect in the GH receptor signaling pathway.

Conclusions

To the best of our knowledge, this study is the first to suggest an association between FA and LS. We propose that IGF-1 administration might improve some FA complications and functions based upon IGF-1 beneficial actions observed in animal, cell and indirect clinical models: erythropoiesis modulation, immune function improvement and metabolic regulation.  相似文献   

20.

Introduction

Fabry disease is a lysosomal storage disorder linked to an alpha-galactosidase A deficiency that can lead to heart and kidney failure. There is little data about the prognosis of patients who undergo a combined heart and kidney transplantation.

Case reports

Two brothers who were diagnosed with Fabry disease after the age of 30 years underwent a combined heart and kidney transplantation at respectively 49 and 42 years of age because of a severe hypertrophic cardiomyopathy with end stage renal failure. They are alive respectively 4 and 9 years after the transplantation. No recurrence of the disease in the transplanted organs has been found.

Conclusion

Combined heart and kidney transplantation in Fabry disease is an efficient therapy for the cardiomyopathy and kidney failure. Its prognosis can be good when the patients are carefully selected. However, an early diagnosis is critical in order to avoid a procedure associated with a high perioperative mortality.  相似文献   

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