METHODS: Clinical and genetic data of a Chinese family with four patients who presented spontaneous pneumothorax in the absence of skin lesions or renal tumors were collected. CT scan of patient's lung was applied for observation of pneumothorax.[ncbi.nlm.nih.gov]
We present 7 patients in 2 families with 13 episodes of spontaneous pneumothorax. Neither congenital defect, alpha1-antitrypsin deficiency nor the described A2B40 HLA haplotype could be found in our patients.[ncbi.nlm.nih.gov]
Among them, spontaneous pneumothorax is the most common presentation of pulmonary involvement with BHDS.[qjmed.oxfordjournals.org]
Fibrofolliculomas are present in more than 80% of patients with BHD syndrome and typically appear after the age of 20 years.[hkmj.org]
Patients with a collapsed lung may experience a sudden onset of the following symptoms: Sharp chest pain, made worse by a deep breath or a cough Shortness of breath A larger pneumothorax will cause more severe symptoms, including: Chest tightness Easy fatigue[chop.edu]
Symptoms of a collapsed lung include: Sudden shortness of breath Painful breathing easy fatigue Sharp chest pain, often on one side stabbing sensation in the back pain in the arm Chest tightness Dry, hacking cough Rapid heart rate Symptoms[blebinfo.co.uk]
Subjective symptoms were reported by ten patients (18.5 %) during diving: shortness of breath (11.1 %), anxiety (3.7 %), dizziness (1.9 %), abnormal fatigue (1.9 %), abnormal chills (1.9 %), and hemoptysis (1.9 %).[springerplus.springeropen.com]
Symptoms of pneumothorax include: Sudden onset of chest pain (This is a sharp pain, which may lead to a feeling of tightness in the chest) Dyspnoea (shortness of breath) Tachycardia (rapid heart rate) Tachypnoeas (rapid respiration rate) Coughing (dry) Fatigue[physio-pedia.com]
Acute onset of chest pain - Severe and/or stabbing pain, radiating to ipsilateral shoulder and increasing with inspiration (pleuritic) Sudden shortness of breath Anxiety, cough, and vague presenting symptoms (eg, general malaise, fatigue) are less commonly[ernights.blogspot.com]
We investigated clinical and genetic data of an Indian family having two patients suffering from spontaneous pneumothorax in the absence of skinlesions or renal tumors.[ncbi.nlm.nih.gov]
METHODS: Clinical and genetic data of a Chinese family with four patients who presented spontaneous pneumothorax in the absence of skinlesions or renal tumors were collected. CT scan of patient's lung was applied for observation of pneumothorax.[ncbi.nlm.nih.gov]
Most mutations in FLCN cause a rare disease, Birt-Hogg-Dubé syndrome, characterized by autosomal dominant inheritance of multiple benign skinlesions, renal tumors, pulmonary blebs, and pneumothoraces.[ncbi.nlm.nih.gov]
Skinlesions and renal tumours of patient were excluded via a dermatologic examination and an abdominal CT scan, respectively. None of the family members had skinlesions or renal tumours.[qjmed.oxfordjournals.org]
lesions are predominantly located on the facial, cervical, and upper truncal regions as smooth, dome-shaped, and white to flesh-coloured papules. (2) Increased susceptibility to renal cell carcinoma of mixed histologies; the most frequent subtype is[hkmj.org]
In 2001, the gene responsible for BHD syndrome was mapped to the shortarm of chromosome 17 (17p11.2) and was named folliculin gene ( FLCN , OMIN 607273, GenBank accession number NM_144997).[jtd.amegroups.com]
Abstract We report two siblings with spinocerebellar ataxia type 1 (SCA1) who experienced frequent episodes of spontaneous pneumothorax. Radiologic findings indicated underlying degenerative changes in the lungs.[ncbi.nlm.nih.gov]
Premutations are also associated with a syndrome of tremor and ataxia. 62 Homocystinuria Homocystinuria is due to cystathionine beta-synthase deficiency (CBS).[nature.com]
Workup Laboratory Studies Arterial blood gas - In patients with severe underlying lung disease and in those with persistent respiratory distress despite treatment Hypoxemia occurs with increased alveolar-arterial oxygen tension gradient.[ernights.blogspot.com]
Currently, there is no curative treatment for BHD syndrome. For patients who develop spontaneous pneumothorax, VATS bullectomy combined with pleurodesis seems to be a more effective choice of treatment.[jtd.amegroups.com]
Seite 223 - American Thoracic Society/Centers for Disease Control and Prevention/Infectious Diseases Society of America: treatment of tuberculosis. Am J Respir Crit Care Med 2003;167:603-662. [books.google.de]
Bilateral bullectomy through thoracoscopic surgery has been a mainstay of definitive treatment in patients with SBSP ( 3, 6, 7 ).[ispub.com]
Your long-term outlook depends on the size of the pneumothorax, as well as the cause and treatment required. In general, a small pneumothorax that doesn’t cause significant symptoms can resolve with observation or minimal treatment.[healthline.com]
If the air leak in the lungs is occurring in one specific location, that area may be removed in a procedure called a pleurectomy.16 Prognosis for pneumothorax The prognosis for primary spontaneous pneumothorax is fair to good.[superpharmacy.com.au]
Treatment and prognosis Treatment depends on a number of factors: size of the pneumothorax symptoms background lung disease/respiratory reserve Estimating the size of pneumothorax is somewhat controversial with no international consensus.[radiopaedia.org]
Prognosis Up to 50% of patients who suffer from a pneumothorax will have another or a recurring pneumothorax. However, there are no long-term complications after successful treatment.[physio-pedia.com]
Prognosis in MVP syndrome is better than for MVP in Marfan syndrome, with significantly lower risk for mitral regurgitation.[nature.com]
To our knowledge, these are the first genetic data to support etiology of neonatal spontaneous familial pneumothorax.[ncbi.nlm.nih.gov]
The etiology of apical subpleural blebs is unknown but could be related to more negative pleural pressure at the apices which may cause a traction-effect on the adjacent lung. This pressure difference is more marked in taller patients.[advancedradteaching.com]
Most recent data: incidence 2.6 cases per 100,000 Primary vs Secondary SPtx Etiology of SPtx is, bascially, due to connective tissue alterations that predispose to leakage of air from the airways into the pleural space.[pedemmorsels.com]
From the clinical and etiological standpoint the pneumothorax is classified as: primary spontaneous pneumothorax if occurring without obvious reason or apparent lung disease, secondary spontaneous pneumothorax if due to a well known underlying lung or[mrmjournal.biomedcentral.com]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
Epidemiology pathogenesis pneumothorax Pneumothorax is defined as the presence of air in the pleural space.[err.ersjournals.com]
There are many causes of pneumothorax which makes it impossible to generalize the epidemiology.[radiopaedia.org]
Epidemiology of pneumothorax in England. Thorax. Aug 2000;55(8):666-671. Bense L, Eklund G, Wiman LG. Smoking and the increased risk of contracting spontaneous pneumothorax. Chest. Dec 1987;92(6):1009-1012.[superpharmacy.com.au]
In Stockholm, in one of the largest epidemiologic studies performed (reported by Bense et al), the annual incidence of PSP in 15,204 individuals was somewhat higher than in the Minnesota study: 18 per 100,000 men and 6 per 100,000 women.[razianesth.freeservers.com]
This suggests a possible pathophysiologic relationship between SCA1 and familial occurrence of spontaneous pneumothorax.[ncbi.nlm.nih.gov]
An overview of relevant and updated information on epidemiology, pathophysiology and cause(s) of spontaneous (primary and secondary) pneumothorax is described.[err.ersjournals.com]
An overview of relevant and updated information on epidemiology, pathophysiology, and management of spontaneous (primary and secondary), catamenial, and traumatic (iatrogenic and noniatrogenic) pneumothorax is given. 2008 S.[karger.com]
Pathophysiology: In PSP, subpleural bullae are found in 76-100% of patients during video-assisted thoracoscopic surgery and in virtually all patients during thoracotomy.[razianesth.freeservers.com]
Otherwise, his father and two elder sisters also had relapsed primary SP in spite of recurrent prevention therapies. This transmission pattern of the disease phenotype suggested an autosomal dominant inheritance.[ncbi.nlm.nih.gov]
Seite 223 - American Thoracic Society/Centers for Disease Control and Prevention/Infectious Diseases Society of America: treatment of tuberculosis. Am J Respir Crit Care Med 2003;167:603-662. [books.google.de]
In our study, both patients were treated with thoracoscopic surgery and apical pleurectomy was performed to prevent recurrence without complications.[ispub.com]
This prevents your lung from expanding properly when you try to breathe in, causing shortness of breath and chest pain.[northshore.org]