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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 -
European Clinical Respiratory Journal 2024Pulmonary lymphangitis carcinomatosa is a rare and severe manifestation of metastatic disease that causes pulmonary symptoms and radiologic patterns similar to...
INTRODUCTION
Pulmonary lymphangitis carcinomatosa is a rare and severe manifestation of metastatic disease that causes pulmonary symptoms and radiologic patterns similar to interstitial lung diseases.
CASE PRESENTATION
We report a case of a 78-year-old woman who presented to our department with insidiously developed symptoms of fatigue, dry cough, and severe dyspnea for 3 months. Chest radiography showed bilateral interstitial changes. On suspicion of interstitial lung disease, bronchoscopy and transbronchial cryobiopsy were carried out. Surprisingly, histopathological investigation revealed pulmonary lymphangitis carcinomatosa originating from primary breast adenocarcinoma.
CONCLUSION
To achieve an accurate diagnosis and prevent delay of initiation of proper treatment a thorough diagnostic approach is necessary. In case of doubt, biopsy should be performed to secure clarification. In this case report we discuss the diagnostic value of transbroncial cryobiopsy for this purpose.
PubMed: 38903731
DOI: 10.1080/20018525.2024.2365510 -
Frontiers in Oncology 2024SMARCA4-deficient undifferentiated thoracic tumor (SMARCA4-UT) is a rare malignant tumor characterized by inactivation of the gene and the presence of undifferentiated...
SMARCA4-deficient undifferentiated thoracic tumor (SMARCA4-UT) is a rare malignant tumor characterized by inactivation of the gene and the presence of undifferentiated or rhabdoid morphology in the tissue. This tumor is highly invasive, typically diagnosed at advanced stages III or IV, and commonly involves thoracic structures, such as the mediastinum and chest wall. Reported cases are limited and treatment guidelines have not yet been established. Here, we present a rare case of surgically treated non-metastatic SMARCA4-UT. The patient presented with blood-tinged sputum, dyspnea, and a history of heavy smoking, and underwent surgery after preoperative evaluation ruled out contraindications. The tumor was successfully removed along with the relevant lymph nodes; analysis determined it to be stage IIB T3N0M0. No recurrence was detected at two months post-surgery. However, four months after surgery, the tumor recurred and invaded the adjacent ribs. The diagnosis, differential diagnosis, and treatment of SMARCA4-deficient undifferentiated lung tumors is considered. The combination of chemotherapy and immunotherapy has shown efficacy, and other treatments such as anti-angiogenic drugs, histone deacetylase inhibitors (HDACi), enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) inhibitors, and oxidative phosphorylation (OXPHOS) inhibitors may also be beneficial in treating SMARCA4-UT.
PubMed: 38903719
DOI: 10.3389/fonc.2024.1399868 -
SAGE Open Medical Case Reports 2024Midventricular obstruction (MVO) is a rare form of hypertrophic cardiomyopathy (HCM). While surgical treatment for HCM is among the most technically challenging cardiac...
Midventricular obstruction (MVO) is a rare form of hypertrophic cardiomyopathy (HCM). While surgical treatment for HCM is among the most technically challenging cardiac operations for acquired disease, surgery for MVO is rarely reported. A 38-year-old man was admitted to our hospital with a cough and dyspnea. Transthoracic and transesophageal echography and computed tomography revealed extensive left ventricular hypertrophy, extending from the anteroseptal wall to the apex, and marked papillary muscle hypertrophy. We underwent septal myectomy via aortotomy (Morrow procedure) and apical surgery. Extended myectomy provides the best exposure to the hypertrophied septum and improves the functional status of patients.
PubMed: 38903183
DOI: 10.1177/2050313X241263704 -
Ugeskrift For Laeger Jun 2024About 40 % of new-onset epilepsy is drug refractory. If epilepsy surgery is not an option or fails, vagal nerve stimulation (VNS) can be considered. VNS efficacy is... (Review)
Review
About 40 % of new-onset epilepsy is drug refractory. If epilepsy surgery is not an option or fails, vagal nerve stimulation (VNS) can be considered. VNS efficacy is reported as more than 50 % seizure frequency reduction in 50-56 % of patients. Features in the newer models offer additional treatment optimization possibilities. Side effects include hoarseness, cough, and dyspnoea. Caution is advised for patients with sleep apnoea or lung disease. VNS has specific limitations concerning MRI. This review presents an overview of VNS treatment in Denmark and discusses future challenges.
Topics: Humans; Vagus Nerve Stimulation; Drug Resistant Epilepsy
PubMed: 38903031
DOI: 10.61409/V10230638 -
World Journal of Surgical Oncology Jun 2024Thymic mucosa-associated lymphoid tissue (MALT) lymphoma is rare and is known to be associated with Sjögren's syndrome (SjS). SjS is rarely accompanied by serositis....
BACKGROUND
Thymic mucosa-associated lymphoid tissue (MALT) lymphoma is rare and is known to be associated with Sjögren's syndrome (SjS). SjS is rarely accompanied by serositis. Here, we describe the first case of postoperative cardiac tamponade and acute pleuritis in a patient with thymic MALT lymphoma associated with SjS.
CASE PRESENTATION
A 33-year-old woman with SjS presented with an anterior mediastinal mass on chest computed tomography, which was performed for further examination of the condition. Suspecting a thymic MALT lymphoma or thymic epithelial tumor, total thymectomy was performed. The mediastinal mass was histopathologically diagnosed as a thymic MALT lymphoma. The patient was discharged with a good postoperative course but visited the hospital 30 days after surgery for dyspnea. Cardiac tamponade was observed and drainage was performed. Four days after pericardial drainage, chest radiography revealed massive left pleural effusion, and thoracic drainage was performed. The patient was diagnosed with serositis associated with SjS and treated with methylprednisolone, which relieved cardiac tamponade and pleuritis.
CONCLUSIONS
Surgical invasion of thymic MALT lymphomas associated with SjS may cause serositis. Postoperative follow-up should be conducted, considering the possibility of cardiac tamponade or acute pleuritis due to serositis as postoperative complications.
Topics: Humans; Lymphoma, B-Cell, Marginal Zone; Female; Adult; Cardiac Tamponade; Sjogren's Syndrome; Pleurisy; Thymus Neoplasms; Postoperative Complications; Thymectomy; Prognosis; Tomography, X-Ray Computed; Acute Disease
PubMed: 38902721
DOI: 10.1186/s12957-024-03442-1 -
Chest Jun 2024Cognitive and physical limitations are common in individuals with chronic lung diseases, but their interactions with physical function and activities of daily living are... (Review)
Review
Translating the Interplay of Cognition and Physical Performance in Chronic Obstructive Pulmonary Disease and Interstitial Lung Disease: Meeting Report and Literature Review.
TOPIC IMPORTANCE
Cognitive and physical limitations are common in individuals with chronic lung diseases, but their interactions with physical function and activities of daily living are not well characterized. Understanding these interactions and potential contributors may provide insights on disability and enable more tailored rehabilitation strategies.
REVIEW FINDINGS
This review summarizes a 2-day meeting of patient partners, clinicians, researchers, and lung associations to discuss the interplay between cognitive and physical function in people with chronic lung diseases. This report covers four areas: 1) cognitive-physical limitations in patients with chronic lung diseases, 2) cognitive assessments, 3) strategies to optimize cognition and motor control and 4) future research directions. Cognitive and physical impairments have multiple effects on quality of life and daily function. Meeting participants acknowledged the need for a standardized cognitive assessment to complement physical assessments in patients with chronic lung diseases. Dyspnea, fatigue, and age were recognized as important contributors to cognition that can affect motor control and daily physical function. Pulmonary rehabilitation was highlighted as a multidisciplinary strategy that may improve respiratory and limb motor control through neuroplasticity, and has the potential to improve physical function and quality of life.
SUMMARY
There was consensus that cognitive function and the cognitive interference of dyspnea in people with chronic lung diseases contribute to motor control impairments that can negatively impact daily function, which may be improved with pulmonary rehabilitation. The meeting generated several key research questions related to cognitive-physical interactions in individuals with chronic lung diseases.
PubMed: 38901488
DOI: 10.1016/j.chest.2024.05.027 -
Cureus May 2024pneumonia (PCP) is a life-threatening condition found in immunocompromised individuals, especially in human immunodeficiency virus (HIV) positive patients. Here, we...
pneumonia (PCP) is a life-threatening condition found in immunocompromised individuals, especially in human immunodeficiency virus (HIV) positive patients. Here, we report a case of PCP in a presumably immunocompetent 25-year-old male patient who presented with a one-month history of chest pain, dyspnea, and a nonproductive cough with recent development of night sweats. The patient recently immigrated to the United States without any known medical or family history. A chest radiograph revealed moderate pneumothorax for which a chest tube was placed. A chest computed tomography (CT) scan revealed diffuse lung disease with multiple thin- and thick-walled cystic lesions on a background of diffuse ground-glass opacities. Based on these radiologic findings and subsequent positive HIV serology, there was a high suspicion of PCP. Bronchoalveolar lavage was performed, and PCR for was positive. Appropriate treatment was initiated, and the patient recovered well. Through this report, we aim to highlight the importance of recognizing the various clinical and radiologic findings of PCP even in patients with no overt risk factors. Prompt and targeted treatment could mitigate morbidity and mortality associated with this opportunistic pathogen.
PubMed: 38899257
DOI: 10.7759/cureus.60697 -
Internal Medicine (Tokyo, Japan) Jun 2024An 86-year-old woman was admitted to our hospital with cryptogenic progressive dyspnea and dysphagia following a tracheostomy procedure 4 months prior to presentation....
An 86-year-old woman was admitted to our hospital with cryptogenic progressive dyspnea and dysphagia following a tracheostomy procedure 4 months prior to presentation. She exhibited fluctuating diplopia, bilateral vocal fold paralysis, normal nerve test results, negative findings for serum anti-acetylcholine receptor and anti-muscle-specific kinase antibodies, and positive findings for anti-LDL-receptor related protein 4 (LRP4). A videofluoroscopic swallowing study (VFSS) with edrophonium revealed an improvement in bulbar paralysis. Consequently, the patient was diagnosed with double-seronegative myasthenia gravis (DSN-MG) and began immunomodulatory therapy. This case emphasizes the diagnostic challenges of bulbar-type DSN-MG and underscores the value of a VFSS with edrophonium for diagnosing this condition.
PubMed: 38897960
DOI: 10.2169/internalmedicine.3348-23