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Expanded-access use of elamipretide in a patient with membrane protein-associated neurodegeneration.Clinical Case Reports Jul 2024This case report presents a progressively declining 17-year-old patient with membrane protein-associated neurodegeneration who demonstrated symptomatic improvements in...
This case report presents a progressively declining 17-year-old patient with membrane protein-associated neurodegeneration who demonstrated symptomatic improvements in her dysarthria, dysphagia, and gait, and objective improvements in her 6-minute walk test and 5 times sit-to-stand test during elamipretide treatment.
PubMed: 38919884
DOI: 10.1002/ccr3.9116 -
Oncoimmunology 2024Spartalizumab (PDR001) is a humanized IgG4 monoclonal antibody targeting programmed cell death protein 1 (PD-1). We conducted a single-arm, phase 2 trial to investigate...
UNLABELLED
Spartalizumab (PDR001) is a humanized IgG4 monoclonal antibody targeting programmed cell death protein 1 (PD-1). We conducted a single-arm, phase 2 trial to investigate the efficacy and safety of spartalizumab in patients with refractory esophageal squamous cell carcinoma (ESCC). Patients with histologically confirmed ESCC who experienced disease progression after platinum-based chemotherapy received 300 mg of intravenous spartalizumab every three weeks until disease progression or occurrence of unacceptable toxicity. The primary endpoint was centrally assessed objective response according to the Response Evaluation Criteria in Solid Tumors, version 1.1. Adverse events were closely monitored throughout the study. From March 2020 through April 2021, 44 patients with ESCC were enrolled. Of the 44 patients, the objective response rate was 20.5% (95% confidence interval: 8.5-32.4). With a median follow-up of 10.9 months, median progression-free survival and overall survival were 3.2 months and 11.2 months, respectively. In addition, the median duration of response was 24.7 months. The most common grade 3 or 4 adverse event was grade 3 dysphagia (eight [18%] patients). Biomarker analyses explored programmed cell death ligand 1 and CD20 as potential predictive markers for PD-1 blockade. Spartalizumab showed promising activity with a manageable safety profile, indicating its potential as a new treatment option for patients with refractory ESCC.
TRIAL REGISTRATION
The trial was registered at ClinicalTrials.gov under the identifier NCT03785496.
Topics: Humans; Male; Female; Esophageal Squamous Cell Carcinoma; Middle Aged; Aged; Esophageal Neoplasms; Antibodies, Monoclonal, Humanized; Neoplasm Recurrence, Local; Adult; Progression-Free Survival; Aged, 80 and over; Programmed Cell Death 1 Receptor
PubMed: 38919826
DOI: 10.1080/2162402X.2024.2371563 -
Annali Italiani Di Chirurgia 2024The primary aim of our study was to measure the effect of conventional open thyroidectomy performed for patients with multinodular goiter (MNG) on pulmonary volumes...
AIM
The primary aim of our study was to measure the effect of conventional open thyroidectomy performed for patients with multinodular goiter (MNG) on pulmonary volumes measured with respiratory function tests independent from surgical indications. A secondary aim was to determine whether there was a significant improvement in the complaints due to obstructive symptoms after MNG surgeries.
METHODS
This study was conducted between October 2020 and June 2022. Patients who were hospitalized to undergo surgery for giant multinodular goiter were prospectively included in the study. Patients were questioned about complaints of pressure, hoarseness, dyspnea, sleep apnea, snoring, and dysphagia before the surgery and during the follow-up 6 months after surgery. In addition, pulmonary function tests were performed preoperatively, 48 hours after surgery and 6 months after surgery. Forced expiratory volume in 0.5 seconds forced expiratory volume in 1 second and forced vital capacity values in pulmonary function test (PFT) measurements were recorded.
RESULTS
A total of 55 patients, 42 females and 13 males, mean age 49.54 ± 13.6 years, were included in the study. Although there was a significant decrease in clinical symptoms caused by the thyroid volume within 6 months in patients who were operated for giant MNG there was no significant change in pulmonary function tests. There was a positive correlation between the thyroid volume and nodule weight in patients with MNG.
CONCLUSIONS
Our results suggest that it is not necessary to follow up with patients without obstructive findings in preoperative pulmonary function tests with pulmonary function tests in the postoperative period.
Topics: Humans; Thyroidectomy; Male; Female; Middle Aged; Goiter, Nodular; Respiratory Function Tests; Prospective Studies; Adult; Treatment Outcome; Vital Capacity; Forced Expiratory Volume; Aged
PubMed: 38918957
DOI: 10.62713/aic.3507 -
Arthritis Research & Therapy Jun 2024To determine the relationship between gastroesophageal reflux disease (GORD) and its treatment and interstitial lung disease in patients with systemic sclerosis (SSc).
BACKGROUND
To determine the relationship between gastroesophageal reflux disease (GORD) and its treatment and interstitial lung disease in patients with systemic sclerosis (SSc).
METHODS
SSc patients from the Australian Scleroderma Cohort Study (ASCS) were included. GORD was defined as self-reported GORD symptoms, therapy with a proton pump inhibitor (PPI) or histamine 2 receptor antagonist (H2RA) and/or the presence of reflux oesophagitis diagnosed endoscopically. The impact of GORD and its treatment on ILD features (including severity and time to ILD development) and survival was evaluated.
RESULTS
GORD was a common manifestation affecting 1539/1632 (94%) of SSc patients. GORD affected 450/469 (96%) of those with SSc-ILD cohort. In SSc-ILD, there was no relationship between the presence of GORD or its treatment and time to ILD development or ILD severity. However, GORD treatment was associated with improved survival in those with ILD (p = 0.002). Combination therapy with both a PPI and a H2RA was associated with a greater survival benefit than single agent therapy with PPI alone (HR 0.3 vs 0.5 p < 0.050 respectively).
CONCLUSION
GORD is a common SSc disease manifestation. While the presence or treatment of GORD does not influence the development or severity of ILD, aggressive GORD treatment, in particular with a combination of PPI and H2RA, is associated with improved survival in those with SSc-ILD.
Topics: Humans; Gastroesophageal Reflux; Lung Diseases, Interstitial; Female; Male; Middle Aged; Scleroderma, Systemic; Proton Pump Inhibitors; Aged; Histamine H2 Antagonists; Adult; Cohort Studies; Treatment Outcome; Australia
PubMed: 38918847
DOI: 10.1186/s13075-024-03355-0 -
The Korean Journal of Gastroenterology... Jun 2024This case report presents the successful endoscopic submucosal dissection (ESD) of a well-differentiated esophageal liposarcoma in a 51-year-old male with persistent...
This case report presents the successful endoscopic submucosal dissection (ESD) of a well-differentiated esophageal liposarcoma in a 51-year-old male with persistent dysphagia. The cause was initially diagnosed as a 10 cm pedunculated lesion extending from the upper esophageal sphincter to the mid-esophagus. An ESD was chosen over traditional surgery because it is less invasive. The procedure involved a precise submucosal injection and excision with special techniques to manage bleeding from a central vessel. Despite the extraction challenges owing to the size of the lesion, it was successfully removed orally. A histopathological examination of the 8.3×4.2×2.3 cm specimen revealed the characteristic features of a well-differentiated liposarcoma, including MDM2 and CDK4 positivity. The follow-up revealed no recurrence, and active surveillance has been performed since. This report highlights the versatility of ESD in treating significant esophageal tumors and provides evidence for its efficacy as a minimally invasive alternative.
Topics: Humans; Male; Esophageal Neoplasms; Middle Aged; Endoscopic Mucosal Resection; Liposarcoma; Tomography, X-Ray Computed; Cyclin-Dependent Kinase 4; Proto-Oncogene Proteins c-mdm2; Esophagoscopy
PubMed: 38918037
DOI: 10.4166/kjg.2024.047 -
Endoscopy Dec 2024
Topics: Humans; Recurrence; Myotomy; Male; Esophageal Achalasia; Middle Aged; Female; Natural Orifice Endoscopic Surgery; Endoscopic Mucosal Resection
PubMed: 38917977
DOI: 10.1055/a-2336-6554 -
Frontiers in Neurology 2024This systematic review and meta-analysis aims to systematically evaluate the effectiveness and safety of acupuncture in the treatment of aspiration caused by post-stroke...
OBJECTIVE
This systematic review and meta-analysis aims to systematically evaluate the effectiveness and safety of acupuncture in the treatment of aspiration caused by post-stroke dysphagia.
METHODS
A computer search was conducted in nine databases, including the China National Knowledge Infrastructure (CNKI), China Science and Technology Journal (VIP), Wan-fang Database, China Biomedical Literature Database (CBM), PubMed, Web of Science, Cochrane Library, Embase, and Chinese Clinical Trial Registry (ChiCTR), from their inception until April 2024. Clinical randomized controlled trials comparing acupuncture combined therapy or single therapy with control interventions for the treatment of aspiration caused by post-stroke dysphagia were included. The primary outcome measure was the Penetration Aspiration Scale (PAS), and secondary outcome measures included the overall effective rate, video fluoroscopic swallowing study (VFSS), and hyoid bone displacement. The statistical analysis was performed using RevMan 5.3 and Stata 16.0.
RESULTS
A total of 16 articles involving 1,284 patients were included. The meta-analysis results showed that acupuncture combined therapy or single therapy was more effective in improving PAS scores compared to conventional rehabilitation therapy or balloon dilation of the catheter [WMD = -1.05, 95% CI (-1.30, -0.80), = 0.82, = 0.00 < 0.05]. It was also more effective in improving VFSS scores [WMD = 1.32, 95% CI (0.08, 2.55), = 2.09, = 0.04 < 0.05] and hyoid bone displacement [WMD = 2.02, 95% CI (0.86, 3.18), = 3.41, = 0.00 < 0.05]. Additionally, acupuncture had a higher overall effective rate [WMD = 1.21, 95% CI (1.14, 1.29), = 5.76, = 0.00 < 0.05] and a lower incidence of adverse events. Sensitivity analysis indicated that the literature had minimal impact on the results, and bias tests showed no publication bias.
CONCLUSION
Acupuncture combined therapy and acupuncture single therapy can effectively improve aspiration caused by post-stroke dysphagia with a low incidence of adverse events. However, due to the low quality of the included literature, more high-quality randomized controlled trials are still needed to confirm the effectiveness and safety of acupuncture in the treatment of aspiration caused by post-stroke dysphagia.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023462707, identifier CRD42023462707.
PubMed: 38915795
DOI: 10.3389/fneur.2024.1305056 -
BMJ Case Reports Jun 2024Nausea and vomiting during pregnancy are very common; however, when persistent symptoms lead to severe malnutrition, other conditions should be considered. We present a...
Nausea and vomiting during pregnancy are very common; however, when persistent symptoms lead to severe malnutrition, other conditions should be considered. We present a patient with severe postprandial nausea and vomiting resulting in 120 lb weight loss. She was treated for presumed hyperemesis gravidarum but diagnosed with achalasia type 1 upon further work-up. The pregnancy was further complicated by fetal growth restriction, shortened cervix and preterm premature rupture of membranes, and resulted in delivery at 26 weeks of gestation. Postpartum, she underwent a peroral endoscopic procedure and has returned to normal body mass index.The differential for nausea/vomiting is broad, and major medical conditions can manifest for the first time during pregnancy. Severe malnutrition adversely affects maternal and fetal health. Further work-up should be pursued when symptoms cannot otherwise be explained.
Topics: Humans; Female; Pregnancy; Esophageal Achalasia; Adult; Pregnancy Complications; Vomiting; Nausea; Diagnosis, Differential; Hyperemesis Gravidarum
PubMed: 38914522
DOI: 10.1136/bcr-2023-258792 -
BMJ Neurology Open 2024Dystonia is a genetic or non-genetic movement disorder with typical patterned and twisting movements due to abnormal muscle contractions that may be associated with...
BACKGROUND
Dystonia is a genetic or non-genetic movement disorder with typical patterned and twisting movements due to abnormal muscle contractions that may be associated with tremor. Genetic and phenotypic heterogeneity leads to variable clinical presentation.
METHODOLOGY
Next-generation sequencing technologies are being currently used in the workup of patients with inherited dystonia to determine the specific cause in the individuals with autosomal dominant, recessive, X-linked or mitochondrial inheritance patterns. Calcium voltage-gated channel subunit alpha1 A (CACNA1A) gene variants are rare in dystonias.
RESULTS
We here present a 20-year-old man with a history of delayed milestones, flexor posturing, dysarthria, dysphagia and a negative family history from consanguineous parents. Neurological examination revealed right lateral scoliosis of the neck and generalised dystonic posturing affecting both upper and lower limbs. MRI of the brain was unremarkable. Molecular genetic results revealed a heterozygous variant in the CACNA1A gene (CHR19: NM_023035.2, c. 1602G>A; p. Met534Ile). Segregation analyses in both the parents revealed wild-type CACNA1A gene suggesting de novo nature of the variant with a likely pathogenic classification.
CONCLUSION
Dystonia is one of the clinical phenotypes that can be associated with CACNA1A gene mutations and we recommend that this gene either be included in the dystonia panel offered or tested when the initial primary genetic result is negative.
PubMed: 38912174
DOI: 10.1136/bmjno-2024-000710 -
Clinical Interventions in Aging 2024Stroke-associated pneumonia (SAP) usually complicates stroke and is linked to adverse prognoses. Triglycerides, total cholesterol, and body weight index (TCBI) is a new...
PURPOSE
Stroke-associated pneumonia (SAP) usually complicates stroke and is linked to adverse prognoses. Triglycerides, total cholesterol, and body weight index (TCBI) is a new and simple calculated nutrition index. This study seeks to investigate the association between TCBI and SAP incidence, along with its predictive value.
PATIENTS AND METHODS
Nine hundred and sixty-two patients with acute ischemic stroke were divided into SAP group and Non-SAP group. The TCBI was divided into three layers: T1, TCBI < 948.33; T2, TCBI 948.33-1647.15; T3, TCBI > 1647.15. Binary Logistic regression analysis was used to determine the relationship between TCBI levels and the incidence of SAP. Furthermore, restricted cubic splines (RCS) analysis was utilized to evaluate the influence of TCBI on the risk of SAP.
RESULTS
TCBI in the SAP group was markedly lower compared to that in the Non-SAP group ( < 0.001). The Logistic regression model revealed that, using T3 layer as the reference, T1 layer had the highest risk for SAP prevalence (OR = 2.962, 95% CI: 1.600-5.485, = 0.001), with confounding factors being controlled. The RCS model found that TCBI had a linear relationship with SAP ( for nonlinear = 0.490, for overall = 0.004). Moreover, incorporating TCBI into the ADS (Age, atrial fibrillation, dysphagia, sex, and severity) model substantially enhanced the initial model's predictive accuracy.
CONCLUSION
Low TCBI was associated with a higher risk of SAP. In clinical practice, TCBI has shown predictive value for SAP, contributing to early intervention and treatment of SAP.
Topics: Humans; Male; Female; Aged; Ischemic Stroke; Middle Aged; Pneumonia; Triglycerides; Cholesterol; Logistic Models; Risk Factors; Body Weight; Incidence; Retrospective Studies; Aged, 80 and over; Body Mass Index
PubMed: 38911675
DOI: 10.2147/CIA.S467577