Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

Birt-Hogg-Dub é syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research

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Pneumothorax may recur during pulmonary Langerhans cell histiocytosis (PLCH) patients ’ follow-up and its management is not standardised. The factors associated with pneumothorax recurrence are unknown.
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
AbstractTuberous sclerosis complex lymphangioleiomyomatosis (TSC-LAM) is a rare disease, which may develop an intractable pneumothorax. Chemical or mechanical pleurodesis is a general management to prevent recurrence of pneumothorax, rendering it difficult to later dissect the pleura and control intraoperative bleeding. Since total pleural coverage (TPC) alternative to pleurodesis has been firstly reported by Kurihara et al. (Jpn J Thorac Cardiovasc Surg 54:274,2006), TPC was performed in case of a 46-year-old female with a secondary spontaneous pneumothorax caused by TSC-LAM and followed by lung transplantation. Final pat...
Source: General Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
We present an interesting case of ECD that was presented by spontaneous pneumothorax and neurological involvement. PMID: 31709955 [PubMed - in process]
Source: Tuberkuloz ve Toraks - Category: Respiratory Medicine Authors: Tags: Tuberk Toraks Source Type: research
Conclusions: Although BHDS is considered a rare disease, BHDS underlies spontaneous pneumothorax more often than usually believed, especially whenever a family history of pneumothorax is present. Diagnosis of BHDS is essential to start monitoring patients for the risk of developing renal malignancies.Respiration
Source: Respiration - Category: Respiratory Medicine Source Type: research
AbstractPrimary spontaneous pneumothorax (PSP) is not an uncommon disease, especially in patients with risk factors such as male gender, history of smoking, and low body mass index (BMI). Amyotrophic lateral sclerosis (ALS) is a rare disease caused by neurodegeneration of the motor neurons that share risk factors with PSP. The aim of this study was to determine the prevalence of PSP in ALS and find the significant risk factors related to PSP. We retrospectively reviewed the data from 86 patients with clinically probable or definite ALS from three different centers. Clinical characteristics, including age, sex, subtype, dis...
Source: Neurological Sciences - Category: Neurology Source Type: research
Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of women characterized by multiple lung cysts leading to respiratory insufficiency and frequent pneumothorax (PT). Air travel (AT) could increase the ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Conclusion: CLO in adults is rare and is associated with a broad spectrum of symptoms. Precise anamnesis and radiological findings confirm the diagnosis. Surgical resection is the treatment of choice in symptomatic patients.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Clinical Problems Source Type: research
Pneumothorax is one of the most common symptoms in patients with lymphangioleiomyomatosis (LAM). However, current management strategies for patients with LAM who present with recurrent pneumothorax remain inad...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
Conclusions: PLCH is a rare disease and should be considered in young, smokers with spontaneous pneumothorax and cystic lung disease in the differential diagnosis. As more diffusions are affected in patients, respiratory functions for follow-up should be evaluated with diffusion tests. It is essential to quit smoking in therapy. PMID: 30479227 [PubMed - in process]
Source: Tuberkuloz ve Toraks - Category: Respiratory Medicine Authors: Tags: Tuberk Toraks Source Type: research
Birt-Hogg-Dub é syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with lymphangioleiomyomatosis (LAM), the pu...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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