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Ear, Nose, & Throat Journal Apr 2024Epidermoid cysts are rare benign lesions that can derive from abnormally situated ectodermal tissue during embryological development or from implanted epithelium after...
Epidermoid cysts are rare benign lesions that can derive from abnormally situated ectodermal tissue during embryological development or from implanted epithelium after trauma or surgery. In the oral and maxillofacial regions, epidermoid cysts usually develop in the floor of the mouth and rarely in other sites. We describe a rare case of an epidermoid cyst arising in the right maxillary sinus. A 29-year-old man with a known diagnosis of Marfan syndrome presented with progressive swelling and tenderness in the right buccal region, mimicking facial cellulitis, and refractory to medical treatment. Computed tomography scan showed a cystic lesion extending widely into the right maxillary sinus. The cyst was successfully removed with a medial maxillectomy through inferior antrostomy approach under general anesthesia. Histological examination confirmed the diagnosis of an epidermoid cyst, showing a cystic wall lined with a thin layer of keratinizing squamous epithelium and fibroma connective tissue infiltrated with inflammatory cells, with no skin appendages. There has been no evidence of recurrence during the 4 year follow-up. We also conduct a review of the English literature for the reported cases of maxillary epidermoid cyst.
PubMed: 38676551
DOI: 10.1177/01455613241249054 -
Journal of Cardiovascular Development... Apr 2024Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents... (Review)
Review
Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.
PubMed: 38667733
DOI: 10.3390/jcdd11040114 -
Cureus Mar 2024Our purpose is to report a patient with a novel variant in the fibrillin-1 ()gene causing the Marfan syndrome (MFS). The 29-year-old female patient with musculoskeletal,...
Our purpose is to report a patient with a novel variant in the fibrillin-1 ()gene causing the Marfan syndrome (MFS). The 29-year-old female patient with musculoskeletal, cardiovascular, and ocular findings compatible with the MFS had a novel pathogenic mutation on the gene. We report on a patient whose clinical findings are compatible with the MFS. This patient's variant on the gene leading to the syndrome has not been previously described. Additional investigations are needed to determine whether this variant contributes to the development of camptodactyly in patients with the syndrome.
PubMed: 38665719
DOI: 10.7759/cureus.56948 -
Head & Face Medicine Apr 2024This study aims to analyze to what extent patients with Marfan syndrome (MFS) are affected by temporomandibular disorders (TMD) and its impact on oral health-related...
BACKGROUND
This study aims to analyze to what extent patients with Marfan syndrome (MFS) are affected by temporomandibular disorders (TMD) and its impact on oral health-related quality of life (OHRQoL). To collect data, an online questionnaire was created to recruit participants from Germany, Austria, and Switzerland through social media and support groups. The questionnaire consists of free-text questions, the German versions of the Oral Health Impact Profile (OHIP-G14), the Depression Anxiety Stress Scale (DASS), and the Graded Chronic Pain Status (GCPS).
RESULTS
A total of 76 participants with diagnosed MFS were included. Of these, 65.8% showed TMD symptoms, the most common being pain or stiffness of the masticatory muscles in the jaw angle (50.0%). Only 14.5% of the participants were already diagnosed with TMD. Of the participants with an increased likelihood of a depression disorder, 76.9% showed TMD symptoms. Of those with a critical score for an anxiety disorder, 90.9% showed TMD symptoms. 73.3% of participants with TMD symptoms reached the critical score for a stress disorder. TMD symptoms were associated with a higher risk for chronic pain. In the median, participants with TMD showed statistically notably higher OHIP-G14 scores than participants without TMD (11.5 [IQR 17] vs. 1 [IQR 3] points, p ≤ 0.001).
CONCLUSION
TMD symptoms had a noticeable impact on OHRQoL in patients with MFS, i.e., chronic pain and psychological impairment. TMD seems underdiagnosed, and more research is needed to prevent the associated chronification of pain and psychological burden to improve the OHRQoL.
Topics: Humans; Marfan Syndrome; Female; Male; Temporomandibular Joint Disorders; Adult; Quality of Life; Germany; Surveys and Questionnaires; Middle Aged; Switzerland; Austria; Young Adult; Oral Health
PubMed: 38659050
DOI: 10.1186/s13005-024-00427-z -
European Heart Journal. Case Reports Apr 2024Aortic regurgitation (AR) associated with detachment of the aortic valve commissure is extremely rare. We present a case of progressively worsening severe chronic AR due...
BACKGROUND
Aortic regurgitation (AR) associated with detachment of the aortic valve commissure is extremely rare. We present a case of progressively worsening severe chronic AR due to detachment of the aortic valve commissure during hospitalization that was confirmed with multimodality imaging.
CASE SUMMARY
A 50-year-old male with Marfan syndrome visited our hospital to receive treatment for cholelithiasis. Pre-operative examination revealed severe AR and aortic root aneurysm. Because the patient was asymptomatic, it was decided that cholecystectomy should be performed first. However, the patient's heart failure worsened acutely when his blood pressure increased just before induction of anaesthesia. The patient required intubation and management of heart failure. Five days later, the patient underwent cholecystectomy. He was treated for heart failure and underwent open heart surgery on the 35th hospital day. Intraoperative transoesophageal echocardiography revealed that his AR was caused by both enlargement of the aortic root and localized dissection of the aortic valve commissure, which was supported by intraoperative findings and histopathological evaluation. Aortic regurgitation was exacerbated by a new localized dissection, resulting in acute worsening of heart failure.
DISCUSSION
Aortic valve commissure detachment can easily lead to sudden onset of severe AR, deteriorating haemodynamics, and acute pulmonary oedema. Since delayed medical treatment leads to poor clinical outcomes, prompt and accurate diagnosis and appropriately timed surgical intervention are essential. This very rare case of severe AR worsening due to spontaneous aortic valve commissure dissection was evaluated with multiple modalities during hospitalization. Understanding this clinical condition will help cardiologists provide better medical care.
PubMed: 38651082
DOI: 10.1093/ehjcr/ytae178 -
Arteriosclerosis, Thrombosis, and... May 2024AGT (angiotensinogen) is the unique precursor for the generation of all the peptides of the renin-angiotensin system, but it has received relatively scant attention... (Review)
Review
AGT (angiotensinogen) is the unique precursor for the generation of all the peptides of the renin-angiotensin system, but it has received relatively scant attention compared to many other renin-angiotensin system components. Focus on AGT has increased recently, particularly with the evolution of drugs to target the synthesis of the protein. AGT is a noninhibitory serpin that has several conserved domains in addition to the angiotensin II sequences at the N terminus. Increased study is needed on the structure-function relationship to resolve many unknowns regarding AGT metabolism. Constitutive whole-body genetic deletion of in mice leads to multiple developmental defects creating a challenge to use these mice for mechanistic studies. This has been overcome by creating -floxed mice to enable the development of cell-specific deficiencies that have provided considerable insight into a range of cardiovascular and associated diseases. This has been augmented by the recent development of pharmacological approaches targeting hepatocytes in humans to promote protracted inhibition of AGT synthesis. Genetic deletion or pharmacological inhibition of has been demonstrated to be beneficial in a spectrum of diseases experimentally, including hypertension, atherosclerosis, aortic and superior mesenteric artery aneurysms, myocardial dysfunction, and hepatic steatosis. This review summarizes the findings of recent studies utilizing AGT manipulation as a therapeutic approach.
Topics: Animals; Humans; Cardiovascular Diseases; Angiotensinogen; Metabolic Diseases; Renin-Angiotensin System; Molecular Targeted Therapy
PubMed: 38572647
DOI: 10.1161/ATVBAHA.124.318374 -
Journal of Cardiothoracic Surgery Apr 2024Acute Type A aortic dissection (ATAAD) is a life-threatening cardiovascular disease associated with high mortality rates, where surgical intervention remains the primary...
BACKGROUND
Acute Type A aortic dissection (ATAAD) is a life-threatening cardiovascular disease associated with high mortality rates, where surgical intervention remains the primary life-saving treatment. However, the mortality rate for ATAAD operations continues to be alarmingly high. To address this critical issue, our study aimed to assess the correlation between preoperative laboratory examination, clinical imaging data, and postoperative mortality in ATAAD patients. Additionally, we sought to establish a reliable prediction model for evaluating the risk of postoperative death.
METHODS
In this study, a total of 384 patients with acute type A aortic dissection (ATAAD) who were admitted to the emergency department for surgical treatment were included. Based on preoperative laboratory examination and clinical imaging data of ATAAD patients, logistic analysis was used to obtain independent risk factors for postoperative in-hospital death. The survival prediction model was based on cox regression analysis and displayed as a nomogram.
RESULTS
Logistic analysis identified several independent risk factors for postoperative in-hospital death, including Marfan syndrome, previous cardiac surgery history, previous renal dialysis history, direct bilirubin, serum phosphorus, D-dimer, white blood cell, multiple aortic ruptures and age. A survival prediction model based on cox regression analysis was established and presented as a nomogram. The model exhibited good discrimination and significantly improved the prediction of death risk in ATAAD patients.
CONCLUSIONS
In this study, we developed a novel survival prediction model for acute type A aortic dissection based on preoperative clinical features. The model demonstrated good discriminatory power and improved accuracy in predicting the risk of death in ATAAD patients undergoing open surgery.
Topics: Humans; Hospital Mortality; Retrospective Studies; Aortic Dissection; Risk Factors; Marfan Syndrome
PubMed: 38566106
DOI: 10.1186/s13019-024-02687-x -
Advanced Science (Weinheim,... Jun 2024Aortic root aneurysm is a potentially life-threatening condition that may lead to aortic rupture and is often associated with genetic syndromes, such as Marfan syndrome...
Aortic root aneurysm is a potentially life-threatening condition that may lead to aortic rupture and is often associated with genetic syndromes, such as Marfan syndrome (MFS). Although studies with MFS animal models have provided valuable insights into the pathogenesis of aortic root aneurysms, this understanding of the transcriptomic and epigenomic landscape in human aortic root tissue remains incomplete. This knowledge gap has impeded the development of effective targeted therapies. Here, this study performs the first integrative analysis of single-nucleus multiomic (gene expression and chromatin accessibility) and spatial transcriptomic sequencing data of human aortic root tissue under healthy and MFS conditions. Cell-type-specific transcriptomic and cis-regulatory profiles in the human aortic root are identified. Regulatory and spatial dynamics during phenotypic modulation of vascular smooth muscle cells (VSMCs), the cardinal cell type, are delineated. Moreover, candidate key regulators driving the phenotypic modulation of VSMC, such as FOXN3, TEAD1, BACH2, and BACH1, are identified. In vitro experiments demonstrate that FOXN3 functions as a novel key regulator for maintaining the contractile phenotype of human aortic VSMCs through targeting ACTA2. These findings provide novel insights into the regulatory and spatial dynamics during phenotypic modulation in the aneurysmal aortic root of humans.
Topics: Humans; Phenotype; Aortic Aneurysm; Muscle, Smooth, Vascular; Marfan Syndrome; Myocytes, Smooth Muscle; Transcriptome; Aorta; Gene Expression Profiling
PubMed: 38552156
DOI: 10.1002/advs.202400444 -
The American Journal of Pathology Jul 2024Two major constituents of exfoliation material, fibrillin-1 and lysyl oxidase-like 1 (encoded by FBN1 and LOXL1), are implicated in exfoliation glaucoma, yet their...
Two major constituents of exfoliation material, fibrillin-1 and lysyl oxidase-like 1 (encoded by FBN1 and LOXL1), are implicated in exfoliation glaucoma, yet their individual contributions to ocular phenotype are minor. To test the hypothesis that a combination of FBN1 mutation and LOXL1 deficiency exacerbates ocular phenotypes, the pan-lysyl oxidase inhibitor β-aminopropionitrile (BAPN) was used to treat adult wild-type (WT) mice and mice heterozygous for a missense mutation in Fbn1 (Fbn1) for 8 weeks and their eyes were examined. Although intraocular pressure did not change and exfoliation material was not detected in the eyes, BAPN treatment worsened optic nerve and axon expansion in Fbn1 mice, an early sign of axonal damage in rodent models of glaucoma. Disruption of elastic fibers was detected only in Fbn1 mice, which increased with BAPN treatment, as shown by histologic and immunohistochemical staining of the optic nerve pia mater. Transmission electron microscopy showed that Fbn1 mice had fewer microfibrils, smaller elastin cores, and a lower density of elastic fibers compared with WT mice in control groups. BAPN treatment led to elastin core expansion in both WT and Fbn1 mice, but an increase in the density of elastic fiber was confined to Fbn1 mice. LOX inhibition had a stronger effect on optic nerve and elastic fiber parameters in the context of Fbn1 mutation, indicating the Marfan mouse model with LOX inhibition warrants further investigation for exfoliation glaucoma pathogenesis.
Topics: Animals; Protein-Lysine 6-Oxidase; Marfan Syndrome; Disease Models, Animal; Mice; Fibrillin-1; Aminopropionitrile; Optic Nerve; Elastic Tissue; Intraocular Pressure; Fibrillins; Mice, Inbred C57BL; Amino Acid Oxidoreductases; Glaucoma; Microfilament Proteins; Adipokines
PubMed: 38548269
DOI: 10.1016/j.ajpath.2024.03.002 -
Turk Gogus Kalp Damar Cerrahisi Dergisi Jan 2024A 30-year-old woman with ankylosing spondylitis was referred to our clinic with abnormal fetal echocardiography findings, including ascending aortic dilatation, giant...
A 30-year-old woman with ankylosing spondylitis was referred to our clinic with abnormal fetal echocardiography findings, including ascending aortic dilatation, giant main pulmonary artery aneurysm, and aortic and pulmonary valve stenosis at 22 weeks of gestation. The full-term male neonate was born by cesarean section and was transferred to the cardiac intensive care unit soon after delivery for respiratory distress with low percutaneous oxygen saturation. Based on cardiovascular and genetic analysis findings, the patient was diagnosed with Marfan syndrome. Surgery was performed; however, the patient died due to cardiac arrest. In conclusion, main pulmonary artery dilatation and aneurysms are uncommon in Marfan syndrome; therefore, presentation with these findings during the fetal life, as in the present case, is likely a sign of severe Marfan syndrome-related cardiac involvement.
PubMed: 38545352
DOI: 10.5606/tgkdc.dergisi.2024.24850