An anomalous origin of the left main coronary artery arising from the left ventricular outflow tract is an exceedingly rare congenital coronary anomaly, typically associated with impaired myocardial perfusion. Here, we report the case of a 67-year-old asymptomatic woman in whom an anomalous origin of the left main coronary artery, arising from the left ventricular outflow tract below the aortic valve, was incidentally identified during routine preoperative cardiac evaluation. Despite the anatomical abnormality, the patient exhibited no clinical or imaging evidence of myocardial ischemia.
View Article and Find Full Text PDFBackground: Barlow's disease is characterized by excess myxomatous degenerative tissue, leaflets prolapse and/or billowing, chordal-elongation, and annular dilation. Various mitral valve repair techniques are in use. Resection techniques were conventionally performed.
View Article and Find Full Text PDFCatamenial pneumothorax is defined as spontaneous, recurrent pneumothorax occurring in women of reproductive age and associated with the menstrual cycle. This condition is rare and challenging to diagnose, despite increasing awareness due to case and series reports in recent years. Here, we present a clinical case of a 47-year-old woman with a history of recurrent right-sided pneumothorax requiring chest drainage multiple times from 2016 to 2022.
View Article and Find Full Text PDFBackground: Juvenile nasopharyngeal angiofibroma (JNA) is a rare, highly vascular tumor posing a significant challenge for endoscopic excision due to excessive intraoperative bleeding. Exploring feeding vessels and preoperative embolization could reduce intraoperative blood loss and improve surgical outcomes for JNA. This study investigates the vascularization patterns of JNA and the impact of preoperative embolization on surgical excision.
View Article and Find Full Text PDFPOLR3-related hypomyelinating leukodystrophy (POLR3-HLD) is a rare inherited neurological disorder caused by biallelic pathogenic variants in specific genes encoding subunits of RNA polymerase III (Pol III). Here, we report the third patient worldwide with pathogenic variants in and clinical features consistent with POLR3-HLD. The female patient presented with mild intellectual and behavioural disturbances in childhood, as well as growth delay, with brain MRI revealing diffuse hypomyelination and a pattern consistent with POLR3-HLD.
View Article and Find Full Text PDFTriple primary malignancies are rare, involving the occurrence of three distinct, unrelated cancers in a single patient, requiring a personalized, multidisciplinary treatment approach. A 69-year-old male was diagnosed with dermatofibrosarcoma protuberans (DFSP), lung adenocarcinoma, and papillary thyroid carcinoma. After amputation for DFSP, following staging and genetic evaluation, a multidisciplinary tumor board designed a tailored treatment plan, adjuvant chemotherapy for lung adenocarcinoma while monitor regularly the thyroid carcinoma via ultrasound.
View Article and Find Full Text PDFVertebro-vertebral arteriovenous fistula (VV-AVF) is an uncommon vascular disorder characterized by an abnormal direct connection between the extracranial vertebral artery (VA), as well as the first and second branches of subclavian arteries, and the draining veins of the paravertebral venous plexus. Endovascular occlusion or surgical ligation of the high-flow arteriovenous fistula is the main goal of treatment for VV-AVF, but there are no guidelines for the best treatment to date. Endovascular treatment is the primary treatment procedure due to its safety, effectiveness, and simplicity.
View Article and Find Full Text PDFRadiol Case Rep
February 2025
Environ Monit Assess
December 2024
This research investigates the empirical effects of the laser land leveling (LLL) adoption on irrigation water and water efficiency in paddy production in the Mekong Delta region (MDR), using the randomized controlled trial (RCT) approach incorporated into input demand function models. The descriptive analysis highlights the potential for water reuse through farmers' drainage practices. However, the dependence on experiential methods for applying technology in paddy production poses challenges that could compromise long-term sustainability.
View Article and Find Full Text PDFLeft ventricular thrombus (LVT) is a severe consequence that typically follows acute myocardial infarction (MI) and can occur in nonischemic cardiomyopathies. In patients who have experienced an ST-segment elevation acute myocardial infarction (STEMI), LVT is seen up to 15% of the time; for patients without an ischemic cardiomyopathy, it is only 2% to 36% of the time. According to Virchow's triad, the cornerstone of LVT formation includes endothelial injury, blood stasis, and hypercoagulability.
View Article and Find Full Text PDFRadiol Case Rep
October 2024
Spontaneous isolated superior mesenteric artery dissection (SISMAD) is a rare cause of acute abdominal pain, but could potentially be fatal to patients, and should be recognized soon in the emergency department after excluding other common causes. Computed tomography (CT) is the modality of choice for initial diagnosis and follow-up. Currently there is no evidence-based guidelines for managing SISMAD.
View Article and Find Full Text PDFInt Arch Otorhinolaryngol
July 2024
Facial trauma can cause damage to the facial nerve, which can have negative effects on function, aesthetics, and quality of life if left untreated. To evaluate the effectiveness of peripheral facial nerve direct end-to-end anastomosis and/or nerve grafting surgery for patients with facial nerve injury after facial trauma. Fifty-nine patients with peripheral facial nerve paralysis after facial injuries underwent facial nerve rehabilitation surgery from November 2017 to December 2021 at Ho Chi Minh City National Hospital of Odontology.
View Article and Find Full Text PDFPlast Reconstr Surg Glob Open
July 2024
Background: Rhinoplasty in patients with previous unilateral cleft lip repair is a surgical challenge due to complex nasal deformities, including a horizontally positioned nasal wing, wide cleft side nostrils, nasal base defects, and a short and deviated nasal columella. To comprehensively address these complexities, we exclusively utilized autologous costal cartilage in rhinoplasty procedures, using various surgical techniques.
Methods: This study presents a comprehensive case series of 39 patients who had previously undergone unilateral cleft lip surgery but still had nasal deformities.
Background: Chronic limb-threatening ischemia (CLTI) is the most severe clinical form of peripheral artery disease (PAD), accounting for approximately 11%, and is strongly associated with the incidence of amputation, cardiovascular events, and mortality. The Global Vascular Guideline (GVG) proposed a new Global Anatomic Staging System (GLASS) for evaluating the anatomic complexity of arterial lesions. However, more research is required to evaluate outcomes after endovascular intervention in CLTI patients using the GLASS.
View Article and Find Full Text PDFRNA polymerase III-related leukodystrophy (POLR3-related leukodystrophy) is a rare, genetically determined hypomyelinating disease arising from biallelic pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III). Here, we describe the first reported case of POLR3-related leukodystrophy caused by biallelic pathogenic variants in , encoding the RPC4 subunit of Pol III. The individual, a female, demonstrated delays in walking and expressive and receptive language as a child and later cognitively plateaued.
View Article and Find Full Text PDFMicrogravity-induced bone loss results in a 1% bone mineral density loss monthly and can be a mission critical factor in long-duration spaceflight. Biomolecular therapies with dual osteogenic and anti-resorptive functions are promising for treating extreme osteoporosis. We previously confirmed that NELL-like molecule-1 (NELL-1) is crucial for bone density maintenance.
View Article and Find Full Text PDFPediatr Neurol
November 2023
Background: Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categorized based on severity from least to most severe: Salla disease, intermediate-severe Salla disease, and infantile free sialic acid storage disease. Intermediate-severe Salla disease is the most recently described form. Here, we report a longitudinal characterization of intermediate-severe Salla disease progression in two sisters carrying the following biallelic variants in SLC17A5: c.
View Article and Find Full Text PDFBackground: Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized by psychomotor regression, epilepsy, and a hypomyelinating leukodystrophy on magnetic resonance imaging. If left untreated, progressive neurodegeneration occurs.
View Article and Find Full Text PDFIBRO Neurosci Rep
June 2023
Mindfulness is an intervention that was used in many psychiatry treatments. In this study, the subject experienced two different states: (1) attention (i.e.
View Article and Find Full Text PDFParents of children with genetically determined leukoencephalopathies play a major role in their children's health care. We sought to gain a better understanding of their experience with the public health care system in Quebec, Canada, to obtain suggestions for improving their services, and to identify modifiable factors to improve their quality of life. We conducted interviews with 13 parents.
View Article and Find Full Text PDFUnderstanding the axis of the human microbiome and physiological homeostasis is an essential task in managing deep-space-travel-associated health risks. The NASA-led Rodent Research 5 mission enabled an ancillary investigation of the gut microbiome, varying exposure to microgravity (flight) relative to ground controls in the context of previously shown bone mineral density (BMD) loss that was observed in these flight groups. We demonstrate elevated abundance of Lactobacillus murinus and Dorea sp.
View Article and Find Full Text PDFIntroduction: Rare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes. This study aims to demonstrate the challenges and lessons learned in the genetic investigations of leukodystrophies through presentation of a series of cases solved using exome or genome sequencing.
Methods: Each of the six patients had a leukodystrophy associated with hypomyelination or delayed myelination on MRI, and inconclusive clinical diagnostic genetic testing results.
Purposes: The purpose of this study was to present and analyze the etiologic factors, clinical manifestations, bacteriology, and treatment outcomes of nasal septal abscess in a large cohort of adult patients.
Material And Methods: Retrospective analysis.
Results: 36 adult patients, age from 19 to 85 (mean age, 51.