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Proceedings (Baylor University. Medical... 2024Lymphangioleiomyomatosis is a rare progressive disease characterized by abnormal smooth muscle cell proliferation leading to a diffuse cystic lung disease and...
Lymphangioleiomyomatosis is a rare progressive disease characterized by abnormal smooth muscle cell proliferation leading to a diffuse cystic lung disease and extrapulmonary manifestations. Most cases are caused by mutations in the and/or genes, which are also associated with tuberous sclerosis complex. We describe a case of sporadic lymphangioleiomyomatosis with autosomal dominant polycystic kidney disease and renal angiolipomas in a patient who tested negative for gene mutations on the and gene panel.
PubMed: 38910798
DOI: 10.1080/08998280.2024.2334629 -
Cureus May 2024Myocarditis is an inflammatory disease of the cardiac muscle that manifests as chest pain, dyspnea, and other signs of heart failure. ST segment changes with elevated...
Myocarditis is an inflammatory disease of the cardiac muscle that manifests as chest pain, dyspnea, and other signs of heart failure. ST segment changes with elevated cardiac biomarkers mimic acute coronary syndromes. It is most commonly caused by viruses like the Epstein-Barr virus (EBV) and Coxsackie B virus, but it can also be due to cardiotoxic drugs like cyclophosphamide and cocaine or caused by a systemic infiltrative process like sarcoidosis or collagen vascular diseases. One relatively common bacterial cause of myocarditis is beta-hemolytic Group A , which is well known to lead, two to three weeks later, to rheumatic fever and pancarditis. Less commonly, it can cause non-rheumatic myocarditis, which occurs faster, with the pathogenesis not very well understood. We will be reporting a case series of two brothers suffering at the same time from non-rheumatic streptococcal A-isolated myocarditis, questioning the possibility of bacterial toxin-mediated myocarditis or inter-linked genetic predisposition.
PubMed: 38910751
DOI: 10.7759/cureus.60990 -
Cureus May 2024Rhupus syndrome is an autoimmune disorder that combines the symptoms of lupus and rheumatoid arthritis. It is a rare condition that affects the connective tissues of the...
Rhupus syndrome is an autoimmune disorder that combines the symptoms of lupus and rheumatoid arthritis. It is a rare condition that affects the connective tissues of the body such as the joints, muscles, and skin. The symptoms of rhupus syndrome can be similar to those of lupus, including joint pain, fatigue, and skin rashes. However, rhupus syndrome can also cause symptoms of rheumatoid arthritis, such as joint stiffness and swelling. Treatment for rhupus syndrome usually involves a combination of medications and lifestyle changes to manage symptoms and improve the overall quality of life. A 24-year-old female patient was referred by a local physician for evaluation of pancytopenia. Her history dates back to six months when she developed progressive fatigue, dyspnea on mild exertion, and polyarthralgia. Initial laboratory investigations revealed pancytopenia, positive antinuclear antibodies (ANA), anti-double-stranded DNA (anti-dsDNA), and anti-cyclic citrullinated peptide (anti-CCP) antibodies. Bone marrow examination confirmed the diagnosis of aplastic anemia. She was started on cyclosporine with an aim to maintain a trough level between 200 and 250 ng/mL. She responded well with hematological recovery in three to four months. This case highlighted the excellent response to cyclosporine hematologically and clinically in rhupus syndrome complicated with aplastic anemia. Further studies are required to establish the long-term efficacy of cyclosporine in this patient population.
PubMed: 38910697
DOI: 10.7759/cureus.60875 -
Cureus May 2024Pectus excavatum (PE) is a congenital defect that presents with an anterior depression of the chest wall, which can impact cardiopulmonary function. A 25-year-old...
Pectus excavatum (PE) is a congenital defect that presents with an anterior depression of the chest wall, which can impact cardiopulmonary function. A 25-year-old hypermobile male presented with a history of PE and chronic dyspnea on exertion, chronic cough, and intermittent chest wall pain. This study explores osteopathic manipulative treatment (OMT) as a possible alternative to improve symptoms associated with PE. Osteopathic structural exam (OSE), volumetric measurements of the thoracic cavity, vitals, and pulmonary function tests were evaluated at baseline and after OMT. The patient was treated with 14 weeks of weekly OMT for his exertional dyspnea, cough, and chest wall pain. Somatic dysfunctions were addressed through OMT, which all improved by the end of the 14-week treatment. Notably, the excursion at the sternal angle increased by threefold after complete treatment. The patient reported subjective improvement in all symptoms, with durable improvement in chest wall pain at 10 months after cessation of treatment. The application of OMT can help alleviate symptoms of pectus excavatum and aid in the management of patients who have not received surgical interventions.
PubMed: 38910655
DOI: 10.7759/cureus.61005 -
Integrative Cancer Therapies 2024To observe the clinical efficacy of Chinese herbal medicine combined with Liuzijue exercise on the physiological symptoms and quality of life (QoL) in postoperative...
Chinese Herbal Medicine Combined With Liuzijue Exercise in Physiological Rehabilitation After Video-assisted Lung Lobectomy for Cancer: A Prospective Propensity Score Matching Study.
OBJECTIVE
To observe the clinical efficacy of Chinese herbal medicine combined with Liuzijue exercise on the physiological symptoms and quality of life (QoL) in postoperative patients with early-stage lung cancer.
METHODS
One hundred and eighty-three lung cancer patients who underwent video-assisted thoracoscopic surgery (VATS) were categorize into either a traditional Chinese medicine treatment group (CM) or a control group (non-traditional Chinese medicine treatment, NC), among whom 73 underwent Chinese herbal medicine and Liuzijue therapy, while 110 underwent no comprehensive treatment with traditional Chinese medicine. The propensity score matching (PSM) method with a 1:2 ratio was used to balance the baseline characteristics and evaluate the efficacy of CM in improving postoperative symptoms and QoL.
RESULTS
Cough, dyspnea, chest pain, and fatigue were the most common clinical symptoms after VATS. Except for chest pain, they were all correlated with the scope of operation ( < .05). After PSM, 165 patients were identified in the matched cohort, and the covariates of gender, age, operative site, and scope of operation were balanced between the 2 groups ( > .05). In the domain of global health status, the improvement in QoL in CM was greater than that in NC (6.06 ± 15.83 vs -1.06 ± 14.68, = .005). In terms of symptoms, improvements in cough (1.69 ± 3.15 vs 0.38 ± 2.63, = .006), dyspnea during climbing stairs (-10.30 ± 16.82 vs -1.82 ± 17.97, = .004), and pain (-0.76 ± 1.32 vs -0.08 ± 1.31, = .002) in CM were better than in NC.
CONCLUSION
Comprehensive treatment with traditional Chinese medicine (TCM) can provide therapeutic benefits in physiological rehabilitation after VATS for cancer.
Topics: Humans; Male; Female; Drugs, Chinese Herbal; Lung Neoplasms; Propensity Score; Middle Aged; Thoracic Surgery, Video-Assisted; Quality of Life; Prospective Studies; Aged; Exercise Therapy; Medicine, Chinese Traditional; Treatment Outcome; Combined Modality Therapy
PubMed: 38907709
DOI: 10.1177/15347354241261977 -
Journal of Cardiothoracic Surgery Jun 2024Pseudoaneurysm of the mitral-aortic intervalvular fibrosa (PMAIF) is a rare complication of infective endocarditis or aortic valve surgery. Surgical treatment is... (Review)
Review
BACKGROUND
Pseudoaneurysm of the mitral-aortic intervalvular fibrosa (PMAIF) is a rare complication of infective endocarditis or aortic valve surgery. Surgical treatment is suggested, but the long-term follow-up of conservative management remains unclear.
CASE PRESENTATION
A 33-year follow-up of a patient who developed PMAIF six years after aortic valve replacement is reported. The patient presented to our center with dyspnea, and the echocardiography revealed an ejection fraction of 20% and a PMAIF measuring 7 × 10 mm. Despite being advised to undergo surgery, the patient declined due to fear of surgical outcomes. Consequently, conservative treatment with close observation but without surgery was initiated. During the 33-year follow-up period, the patient did not experience any adverse health effects.
CONCLUSION
Surgical intervention should be considered whenever the PMAIF is diagnosed. However, in any case that the surgery was not applicable, conservative management might lead to long-term survival, based on this and similar case reports in the literature.
Topics: Humans; Aneurysm, False; Mitral Valve; Aortic Valve; Male; Follow-Up Studies; Heart Aneurysm; Echocardiography; Heart Valve Prosthesis Implantation; Middle Aged
PubMed: 38907323
DOI: 10.1186/s13019-024-02885-7 -
Journal of Cardiovascular Imaging Jun 2024
PubMed: 38907321
DOI: 10.1186/s44348-024-00007-4 -
Journal of Cardiothoracic Surgery Jun 2024Pulmonary arteriovenous malformation (PAVM), also known as pulmonary arteriovenous fistula, is a rare vascular developmental anomaly. Most cases of PAVM are associated... (Review)
Review
BACKGROUND
Pulmonary arteriovenous malformation (PAVM), also known as pulmonary arteriovenous fistula, is a rare vascular developmental anomaly. Most cases of PAVM are associated with hereditary hemorrhagic telangiectasia (HHT). Hemothorax associated with PAVM is even rarer, and management concerning this complication still challenges.
CASE PRESENTATION
A 55-year-old man with sudden onset of dyspnea and chest pain was admitted to our hospital. He had a medical history of epistaxis, intraperitoneal germ cell tumor and PAVM. Chest unenhanced CT revealed the left-sided pleural effusion together with partial passive atelectasis and gradual increase at the interval of six days. Diagnostic thoracocentesis further revealed hemorrhagic effusion. CT angiography (CTA) showed tortuously dilated lumen of the left lower pulmonary artery and PAVM with the formation of aneurysm. Due to his family's refusal of surgery, the patient underwent transcatheter embolization therapy. However, the left pleural effusion did not significantly reduce and there was a slow drop in hemoglobin value even after interventional treatment, indicating the possibility of ongoing active bleeding. Eventually, the patient received lobectomy of the left lower lobe with a satisfactory outcome.
CONCLUSIONS
Massive hemothorax resulting from PAVM rupture into the pleural space can lead to fatal outcomes. CTA can accurately diagnose this pathologic condition. Transcatheter embolization is frequently used in the treatment of PAVM, but it may be challenging to achieve the desirable effect in patients with hemothorax. Combined with our case and literature review, direct radical surgery can lead to a successful outcome when PAVM complicated with hemothorax and a large diameter of the draining vein.
Topics: Humans; Hemothorax; Male; Middle Aged; Pulmonary Artery; Pulmonary Veins; Arteriovenous Fistula; Arteriovenous Malformations; Computed Tomography Angiography; Embolization, Therapeutic; Rupture, Spontaneous; Tomography, X-Ray Computed
PubMed: 38907280
DOI: 10.1186/s13019-024-02867-9 -
BMC Neurology Jun 2024Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes.... (Review)
Review
BACKGROUND
Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7 CMS requires different treatment than other CMS types. Regarding DOK7's special considerations and challenges ahead of neurologists, we describe seven DOK7 patients and evaluate their response to treatment.
METHODS
The authors visited these patients in the neuromuscular clinics of Tehran and Kerman Universities of Medical Sciences Hospitals. They diagnosed these patients based on clinical findings and neurophysiological studies, which Whole Exome Sequencing confirmed. For each patient, we tried unique medications and recorded the clinical response.
RESULTS
The symptoms started from birth to as late as the age of 33, with the mean age of onset being 12.5. Common symptoms were: Limb-girdle weakness in 6, fluctuating symptoms in 5, ptosis in 4, bifacial weakness in 3, reduced extraocular movement in 3, bulbar symptoms in 2 and dyspnea in 2 3-Hz RNS was decremental in 5 out of 6 patients. Salbutamol was the most effective. c.1124_1127dupTGCC is the most common variant; three patients had this variant.
CONCLUSION
We strongly recommend that neurologists consider CMS in patients with these symptoms and a similar familial history. We recommend prescribing salbutamol as the first-choice treatment option for DOK7 patients.
Topics: Humans; Myasthenic Syndromes, Congenital; Male; Female; Muscle Proteins; Adult; Young Adult; Adolescent; Child; Mutation
PubMed: 38907197
DOI: 10.1186/s12883-024-03713-0 -
The Journal of Allergy and Clinical... Jun 2024Breathlessness is a disabling symptom, with complexity that is often under recognised and under treated in asthma.
BACKGROUND
Breathlessness is a disabling symptom, with complexity that is often under recognised and under treated in asthma.
OBJECTIVE
To highlight the burden of breathlessness in people with severe compared with mild-to-moderate asthma and identify psychophysiological correlates of breathlessness.
METHODS
This was a cross-sectional study of people with mild-to-severe asthma, who attended two in-person visits to complete a multidimensional assessment. The proportion of people with mild-to-moderate versus severe asthma who reported physically limiting breathlessness (modified Medical Research Council [mMRC] dyspnoea score ≥2) was compared. Psychophysiological factors associated with breathlessness in people with asthma were identified via a directed acyclic graph and explored with multivariate logistic regression to predict breathlessness.
RESULTS
144 participants were included, of which, 74 (51%) had mild-to-moderate asthma and 70 (49%) severe asthma. Participants were predominantly female (n=103, 72%) with a median (quartile 1, quartile 3) age of 63.4 (50.5,69.5) years and body mass index (BMI) of 31.3 (26.2, 36.0) kg/m. The proportion of people reporting mMRC ≥2 was significantly higher in those with severe- (n=37, 53%) compared with mild-to-moderate (n=21, 31%) asthma (p=0.013). Dyspnoea-12 Total (8.00 [4.75, 17.00] versus 5.00 [2.00, 11.00], p=0.037) score was also significantly higher in the severe asthma group. Significant predictors of physically limiting breathlessness were: BMI, asthma control, exercise capacity, and hyperventilation symptoms. Airflow limitation and type-2 inflammation were poor breathlessness predictors.
CONCLUSION
Over half of people with severe asthma experience physically limiting breathlessness despite treatment. Targeting psychophysiological factors, or traits, associated with breathlessness may help relieve this distressing symptom, which is of high priority to people with asthma.
PubMed: 38906398
DOI: 10.1016/j.jaip.2024.06.019