scholarly journals Prevalence of Birt-Hogg-Dubé Syndrome Determined Through Epidemiological Data on Spontaneous Pneumothorax and Bayes Theorem

2021 ◽  
Vol 8 ◽  
Author(s):  
Marie-Eve Muller ◽  
Cécile Daccord ◽  
Patrick Taffé ◽  
Romain Lazor
Keyword(s):  
General Population ◽  
Incidence Rate ◽  
Spontaneous Pneumothorax ◽  
Meta Analysis ◽  
Epidemiological Data ◽  
Bayes Theorem ◽  
Renal Tumors ◽  
Published Data ◽  
Pulmonary Cysts ◽  
Before And After

Background: Birt-Hogg-Dubé syndrome (BHD) is a rare inherited disorder characterized by cutaneous fibrofolliculomas, multiple pulmonary cysts, recurrent spontaneous pneumothorax (SP), and renal tumors. More than 40 years after its description, the prevalence of BHD in the general population remains unknown. This study aimed at determining the prevalence of BHD by applying the Bayes theorem of conditional probability to epidemiological data on SP.Methods: We performed a meta-analysis of published data on: (1) the probability of having BHD among patients with apparent primary SP (4 studies), (2) the incidence rate of primary SP in the general population (9 studies), and (3) the probability of experiencing a SP in BHD (16 studies). Results were corrected for SP relapses, stratified by gender and year of study publication (before and after 2000), and computed with the Bayes equation.Results: The probability of having BHD among patients with apparent primary SP was 0.09 (95% confidence interval: 0.07, 0.11) or 9%. It was 0.20 (0.14, 0.27) in women and 0.05 (0.04, 0.07) in men. The incidence rate of primary SP in the general population was 8.69 (6.58, 11.46) per 100,000 person-years (p-y). It was 3.44 (2.36, 4.99) per 100,000 p-y in women and 13.96 (10.72, 18.18) per 100,000 p-y in men, and was about 2 times higher in studies published after 2000 than in those published before 2000. The probability of experiencing at least one SP among patients with BHD was 0.43 (0.31, 0.54) or 43%, without gender difference. By combining these data in the Bayes equation, we found a prevalence of BHD in the general population of 1.86 (1.16, 3.00) per million, with values of 1.86 (1.02, 3.39) per million in men, and 1.88 (0.97, 3.63) per million in women.Conclusion: The prevalence of BHD in the general population is about 2 cases per million, without difference between genders.

scholarly journals Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xiaowen Hu ◽  
Guofeng Zhang ◽  
Xianmeng Chen ◽  
Kai-Feng Xu
Keyword(s):  
Spontaneous Pneumothorax ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Lower Lobe ◽  
Skin Lesions ◽  
Jiangsu Province ◽  
Chinese Patients ◽  
Renal Tumors ◽  
Pulmonary Cysts ◽  
Exon 11

Abstract Objective To clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients. Methods We identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2008 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded. Results Twenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0 ± 13.9 years (range, 18–84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1–6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%). Conclusions Although BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS.

Birt-Hogg-Dubé Syndrome in Chinese Patients: A Literature Review of 120 Families

2021 ◽  
Author(s):  
Guofeng Zhang ◽  
Xianmeng Chen ◽  
Kaifeng Xu ◽  
Xiaowen Hu
Keyword(s):  
Spontaneous Pneumothorax ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Lower Lobe ◽  
Skin Lesions ◽  
Jiangsu Province ◽  
Chinese Patients ◽  
Renal Tumors ◽  
Pulmonary Cysts ◽  
Exon 11

Abstract ObjectiveTo clarify the epidemiological and clinical features of Birt-Hogg-Dubé syndrome (BHDS) in Chinese patients. MethodsWe identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2006 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded. ResultsTwenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0±13.9 years (range, 18-84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1-6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%).ConclusionsAlthough BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS.

scholarly journals Epidemiology of injuries in professional football: a systematic review and meta-analysis

2019 ◽  
Vol 54 (12) ◽  
pp. 711-718 ◽  
Author(s):  
Alejandro López-Valenciano ◽  
Iñaki Ruiz-Pérez ◽  
Alberto Garcia-Gómez ◽  
Francisco J Vera-Garcia ◽  
Mark De Ste Croix ◽  
...  
Keyword(s):  
Systematic Review ◽  
Incidence Rate ◽  
Meta Analysis ◽  
Epidemiological Data ◽  
Pooled Analysis ◽  
Incidence Rates ◽  
Football Players ◽  
Injury Incidence ◽  
Lower Extremity Injuries ◽  
Trial Quality

ObjectiveWe performed a systematic review and meta-analysis of epidemiological data of injuries in professional male football.MethodForty-four studies have reported the incidence of injuries in football. Two reviewers independently extracted data and assessed trial quality using the Strengthening the Reporting of Observational Studies in Epidemiology statement and Newcastle Ottawa Scale. Studies were combined in a pooled analysis using a Poisson random effects regression model.ResultsThe overall incidence of injuries in professional male football players was 8.1 injuries/1000 hours of exposure. Match injury incidence (36 injuries/1000 hours of exposure) was almost 10 times higher than training injury incidence rate (3.7 injuries/1000 hours of exposure). Lower extremity injuries had the highest incidence rates (6.8 injuries/1000 hours of exposure). The most common types of injuries were muscle/tendon (4.6 injuries/1000 hours of exposure), which were frequently associated with traumatic incidents. Minor injuries (1–3 days of time loss) were the most common. The incidence rate of injuries in the top 5 European professional leagues was not different to that of the professional leagues in other countries (6.8 vs 7.6 injuries/1000 hours of exposure, respectively).ConclusionsProfessional male football players have a substantial risk of sustaining injuries, especially during matches.

Stereotactic radiosurgery of brainstem cavernous malformations: a systematic review and meta-analysis

2014 ◽  
Vol 120 (4) ◽  
pp. 982-987 ◽  
Author(s):  
Xin-Yu Lu ◽  
Hui Sun ◽  
Jian-Guo Xu ◽  
Qiao-Yu Li
Keyword(s):  
Systematic Review ◽  
Stereotactic Radiosurgery ◽  
Meta Analysis ◽  
Analysis Data ◽  
Scientific Publication ◽  
Neurological Deficits ◽  
Published Data ◽  
Cavernous Malformations ◽  
Before And After ◽  
High Operative Risk

Object Over the last two decades, stereotactic radiosurgery (SRS) has arisen as a promising approach in the management of brainstem cavernous malformations (CMs). In the present study, the authors report a systematic review and meta-analysis of the available published data regarding the radiosurgical management of brainstem CMs. Methods To identify eligible studies, systematic searches for brainstem CMs treated with SRS were conducted in major scientific publication databases. The search yielded 5 studies, which were included in the meta-analysis. Data from 178 patients with brainstem CMs were extracted. Hemorrhage rates before and after SRS were calculated, a meta-analysis was performed, and the risk ratio (RR) was determined. Results Four studies showed a statically significant reduction in the annual hemorrhage rate after SRS. The overall RR was 0.161 (95% CI 0.052–0.493; p = 0.001), and 21 patients (11.8%) had transient or permanent neurological deficits. Conclusions The present meta-analysis for the radiosurgical management of brainstem CMs shows that SRS can decrease the rate of repeat hemorrhage and has a low rate of adverse effects compared with surgery. The authors suggest that SRS may be considered as an alternative treatment for brainstem CMs that are inoperable or have a high operative risk.

scholarly journals Risk of Tuberculosis Infection and Disease for Health Care Workers: An Updated Meta-Analysis

2017 ◽  
Vol 4 (3) ◽  
Author(s):  
Lydia Uden ◽  
Ella Barber ◽  
Nathan Ford ◽  
Graham S Cooke
Keyword(s):  
General Population ◽  
Infection Control ◽  
Incidence Rate ◽  
Meta Analysis ◽  
Scale Up ◽  
Control Group ◽  
Interferon Gamma Release Assay ◽  
Screening Programs ◽  
Increased Risk ◽  
Latent Tb Infection

Abstract Background Tuberculosis (TB) remains a major challenge to global health. Healthcare workers (HCWs) appear to be at increased risk of TB compared with the general population, despite efforts to scale up infection control and reduce nosocomial TB transmission. This review aims to provide an updated estimate of the occupational risk of latent TB infection (LTBI) and active TB among HCWs compared with the general population. Methods A systematic review was performed to identify studies published over the last 10 years reporting TB prevalence or incidence among HCWs and a control group. Pooled effect estimates were calculated to determine the risk of infection. Results Twenty-one studies met the inclusion criteria, providing data on 30961 HCWs across 16 countries. Prevalence of LTBI among HCWs was 37%, and mean incidence rate of active TB was 97/100000 per year. Compared with the general population, the risk of LTBI was greater for HCWs (odds ratio [OR], 2.27; 95% confidence interval [CI], 1.61–3.20), and the incidence rate ratio for active TB was 2.94 (95% CI, 1.67–5.19). Comparing tuberculin skin test and interferon-gamma release assay, OR for LTBI was found to be 1.72 and 5.61, respectively. Conclusions The overall risk of both LTBI and TB to HCWs continues to be significantly higher than that of the general population, consistent with previous findings. This study highlights the continuing need for improvements in infection control and HCW screening programs.

scholarly journals Impact of the COVID-19 pandemic on hospitalizations for acute coronary syndromes: a multinational study

QJM ◽  
2021 ◽  
Author(s):  
D Araiza-Garaygordobil ◽  
C Montalto ◽  
P Martinez-Amezcua ◽  
A Cabello-Lopez ◽  
R Gopar-Nieto ◽  
...  
Keyword(s):  
Incidence Rate ◽  
Acute Coronary Syndromes ◽  
Epidemiological Data ◽  
Historical Period ◽  
Ischemic Time ◽  
Mechanical Complications ◽  
Grace Risk Score ◽  
Before And After ◽  
Coronary Syndromes ◽  
Door To Balloon

  Background: COVID-19 has challenged the health system organization requiring a fast reorganization of diagnostic/therapeutic pathways for patients affected by time-dependent diseases such as acute coronary syndromes (ACS). Aim: To describe ACS hospitalizations, management, and complication rate before and after the COVID-19 pandemic was declared. Design: Ecological retrospective study. Methods: We analyzed aggregated epidemiological data of all patients > 18 years old admitted for ACS in twenty-nine hub cardiac centers from 17 Countries across 4 continents, from December 1st, 2019 to April 15th, 2020. Data from December 2018 to April 2019 were used as historical period. Results: A significant overall trend for reduction in the weekly number of ACS hospitalizations was observed (20.2%; 95% confidence interval CI [1.6, 35.4] P = 0.04). The incidence rate reached a 54% reduction during the second week of April (incidence rate ratio: 0.46, 95% CI [0.36, 0.58]) and was also significant when compared to the same months in 2019 (March and April, respectively IRR: 0.56, 95%CI [0.48, 0.67]; IRR: 0.43, 95%CI [0.32, 0.58] p < 0.001). A significant increase in door-to-balloon, door-to-needle, and total ischemic time (p <0.04 for all) in STEMI patents were reported during pandemic period. Finally, the proportion of patients with mechanical complications was higher (1.98% vs. 0.98%; P = 0.006) whereas GRACE risk score was not different. Conclusions: Our results confirm that COVID-19 pandemic was associated with a significant decrease in ACS hospitalizations rate, an increase in total ischemic time and a higher rate of mechanical complications on a international scale.

Cardiovascular Mortality after Venous Thromboembolism: A Meta-Analysis of Prospective Cohort Studies

2021 ◽  
Author(s):  
Steve Raoul Noumegni ◽  
Thomas Grangereau ◽  
Arzu Demir ◽  
Luc Bressollette ◽  
Francis Couturaud ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Cardiovascular Diseases ◽  
General Population ◽  
Cohort Studies ◽  
Incidence Rate ◽  
Prospective Cohort ◽  
Meta Analysis ◽  
Cardiovascular Death ◽  
Prospective Cohort Studies ◽  
The Impact

AbstractMany studies from current literature show that cardiovascular diseases in patients with venous thromboembolism (VTE) are more frequent than in the general population without VTE. However, data summarizing the impact of cardiovascular diseases on mortality of patients with VTE are lacking. In this systematic review and meta-analysis, we aimed to determine the frequency and incidence rate of cardiovascular death in patients with VTE. MEDLINE and EMBASE were searched from January 1, 2000 to February 28, 2021. Eligible studies were observational prospective cohort studies including patients with VTE and reporting all causes of death. Cardiovascular death was defined as deaths that result from new or recurrent pulmonary embolism, death due to acute myocardial infarction, sudden cardiac death or heart failure, death due to stroke, death due to cardiovascular procedures or hemorrhage, death due to ruptured aortic aneurysm or aortic dissection and death due to other cardiovascular causes. Random-effect models meta-analysis served to determine all pooled effect size of interest with their 95% confidence interval (CI). Thirteen observational studies enrolling 22,251 patients were identified and included. The mean/median age varied between 49 and 75 years. The proportion of men ranged from 38.3 to 53.2%. The overall pooled frequency of cardiovascular death in patients with VTE was 3.9% (95% CI: 2.5–5.6%), while the overall pooled frequency of all-cause mortality was 12.0% (95% CI: 9.1–15.4%). The pooled proportion of cardiovascular death among all causes of deaths in patients with VTE was 35.2% (95% CI: 22.2–49.3%). The pooled incidence rate of cardiovascular death was 1.92 per 100 patient-years (95% CI: 0–4.1). The frequency of cardiovascular death in patients with VTE was significantly higher than in patients without VTE (risk ratio: 3.85, 95% CI: 2.75–5.39). Based on this updated meta-analysis from 13 prospective cohort studies, cardiovascular death in patients with VTE is more frequent than in the general population without VTE.

Systematic Review and Meta-analysis of the Change in Pharyngeal Bacterial Cultures After Pediatric Tonsillectomy

2020 ◽  
pp. 019459982094490
Author(s):  
Scott E. Brietzke ◽  
Steven M. Andreoli
Keyword(s):  
Systematic Review ◽  
Pathogenic Bacteria ◽  
Meta Analysis ◽  
Biomedical Literature ◽  
Published Data ◽  
Inclusion Criteria ◽  
Hemolytic Streptococcus ◽  
Beta Hemolytic Streptococcus ◽  
Before And After ◽  
Group A

Objective To review all available biomedical literature to assess published data regarding the effect of pediatric tonsillectomy on the culture results of potentially pathogenic respiratory pharyngeal bacteria before and after surgery. Data Sources Biomedical literature databases (PubMed, Embase, Web of Science) from January 1970 to December 2019. Review Methods A systematic review of the literature was performed with the assistance of a medical librarian. Inclusion criteria consisted of pediatric patients and extractable data regarding respiratory bacteria culture data before and after tonsillectomy. Meta-analysis with random effects modeling was used on a limited basis. Results Only 5 studies met the inclusion criteria. The grand mean age was 5.9 years; the sample size range was 31 to 134; and the range of follow-up was 1 to 12 months. Group A beta hemolytic Streptococcus was generally the least commonly cultured pathogenic bacteria on preoperative cultures. Qualitative culture data generally showed an overall decrease in potentially pathogenic bacteria and some increase in nonpathologic respiratory flora after tonsillectomy. Meta-analysis showed significant reductions in postoperative culture rates for group A beta hemolytic Streptococcus (positive post- vs preoperative culture: risk ratio [RR], 0.144; 95% CI, 0-0.342), Haemophilus influenzae (RR, 0.437; 95% CI, 0.266-0.608), and Streptococcus pneumoniae (RR, 0.268; 95% CI, 0-0.567) and mixed results for Moraxella catarrhalis (0.736; 95% CI, 0.446-1.03) but no significant reduction for Staphylococcus aureus (RR, 0.774; 95% CI, 0.157-1.39). Conclusion The majority of published evidence shows that pediatric tonsillectomy appears to reduce the quantity of most cultured potentially pathogenic respiratory bacteria in the pharynx after surgery. The implications and possible benefits of this favorable change in the microbiologic environment after surgery require further study.

Multiple Chromophobe and Clear Cell Renal Cancer in A Patient Affected by Birt-Hogg-Dubè Syndrome: A Case Report

2016 ◽  
Vol 84 (2) ◽  
pp. 116-120
Author(s):  
Roberto Castellucci ◽  
Michele Marchioni ◽  
Sergio Valenti ◽  
Giuseppe Sortino ◽  
Giulio Borgonovo ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cancer ◽  
Renal Cell ◽  
Spontaneous Pneumothorax ◽  
Clear Cell ◽  
Renal Tumors ◽  
Kidney Tumors ◽  
Pulmonary Cysts

Objectives Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The syndrome is linked to mutations in the FLCN gene, which is preferentially expressed in the skin, kidney, and lung. The aim of our paper is to describe a case of multiple bilateral renal cancer in a patient affected by BHDS. Case Presentation Patient subjected to enucleoresection seven kidney tumors discovered right after ultrasound performed for other reasons. Definitive histologic examination were as follows: multifocal type chromophobe renal cell carcinoma and clear cell. After 1 month, the patient was readmitted for spontaneous pneumothorax. After about a year, the patient was again subjected to resection of multiple renal tumors left. Histological examination proved that it was multifocal renal cell carcinoma, clear cell varieties. The genome analysis highlighted positive for mutation c. 1379_1380 of FLCN gene, BHDS gene. Currently, the patient is under close follow-up. After 1 year, the chest computed tomography (CT) confirmed the presence of minute air bubbles scattered on both sides. Instead, the abdominal CT was positive for a small round lesion 6 mm exophytic. Conclusions The BHDS is a rare syndrome whose management is extremely complex both in terms of oncological and functional. Kidney tumors associated with BHDS usually have a favorable clinical course. Present evidence suggests a close follow-up of the carriers of the genetic mutation patients whether or not they have expressed the lesions of disease given the high rate of recurrence of renal lesions.

scholarly journals A Young Man with Bilateral Spontaneous Pneumothorax

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Liese Lieve Willemien Verhaert
Keyword(s):  
Spontaneous Pneumothorax ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Sudden Onset ◽  
Renal Tumors ◽  
High Resolution Computed Tomography ◽  
Thoracic Pain ◽  
Pulmonary Cysts ◽  
Lower Lung ◽  
Wide Variability

Case.A 33-year-old male nonsmoker presented with sudden onset of dyspnoea and thoracic pain. Chest radiograph showed a left-sided pneumothorax. Few days later he developed a right-sided pneumothorax. He had a positive family history of pneumothorax. High-resolution computed tomography of the chest showed multiple pulmonary cysts predominantly located in the lower lung regions. We suspected Birt-Hogg-Dubé syndrome (BHD).Conclusion.Birt-Hogg-Dubé syndrome is a rare autosomal dominant inherited genodermatosis and characterised by clinical manifestations including hamartomas of the skin, renal tumors, and pulmonary cysts with spontaneous pneumothorax. BHD is probably underdiagnosed because of the wide variability in its clinical expression. It is important to recognize these patients because of the possibility of developing renal cancer.

Sign in / Sign up

Export Citation Format

Share Document