The extremely rare case of aortic chordae tendineae strands: A case report with literature review
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ABSTRACT:
SUBMITTER: Khansari N
PROVIDER: S-EPMC10565095 | biostudies-literature | 2023 Oct
REPOSITORIES: biostudies-literature
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Project description:BackgroundParachute mitral valve with reticular chordae tendineae is an extremely rare anomaly.Case presentationWe present a case of parachute mitral valve associated with distinctive reticular chordae tendineae in an adult. It was diagnosed from the echocardiogram. The patient was referred for surgery. Valve analysis showed thickened mitral valve leaflets and commissures. The chordae tendinae were lengthy and thick. All the chordae tendinae merged into a solitary papillary muscle. A distinctive reticular fibrous tissue was found on mitral valve apparatus as the chordae tendinae intermixed each other. The only functional communication between the left atrium and the left ventricle was through the reticular spaces. This anomaly was considered to be unrepairable and was replaced with a mechanical valve.ConclusionsAn extremely rare and unique case of parachute mitral valve associated with reticular chordae tendineae was reported. Mitral valve replacement is a reasonable choice in patients with parachute mitral valve with reticular chordae tendineae.
| S-EPMC8034194 | biostudies-literature
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:Cutaneous-pericardial fistula is a rare complication of transapical aortic valve replacement; only a few cases are reported in the literature. It is part of a wide range of surgical site infection manifestations that could emerge after surgery. Due to its proximity to the heart, the risk of infectious lesions of adjacent structures and inoculation of pathogens on the prosthetic valve can lead to life-threatening complications. We report here a case of successful surgical treatment through reduced ribs and soft tissue operative trauma.
| S-EPMC7396047 | biostudies-literature
Project description:Hemoptysis caused by Parvimonas micra: case report and literature review
| PRJEB72347 | ENA
Project description:Aims: This study aimed to investigate the pathology, classification, diagnosis, and surgical prognosis of UCMV. Methods and Results: Consecutive paediatric patients with ≥ moderate-severe mitral regurgitation (MR) and mitral stenosis (MS) were recruited between October 2016 and July 2020. UCMV was diagnosed and classified into three grades according to the involvement of chorda groups and MS presence or absence; other mitral lesions were included as controls. Of 207 eligible patients, 75 with UCMV (10.0 m [interquartile range (IQR): 6.0-21.5]) and 110 with other mitral lesions (16.0 m [IQR: 5.0-43.5]) were diagnosed using echocardiography and surgical exploration. The associated chorda groups of UCMV were confirmed to show high agreement between echocardiography and surgery (kappa = 0.857, p < 0.001). At baseline surgery assessment, the UCMV group exhibited worse New York Heart Association functional class, more severe MR and MS grades, and fewer associated complex anomalies (all, p < 0.05) than the control group. After a mean follow-up of 8.3 (IQR:2.7-14.4) months and adjustment for covariates, the UCMV group required longer cardiopulmonary bypass and aortic clamp times, but there were no differences in the incidence of adverse events (p = 0.584). Class III was associated with higher risk of adverse events than classes I and II (p = 0.002). Conclusions: The UCMV spectrum constitutes a primary pathogenesis of paediatric MV dysfunction, which can be optimally diagnosed using echocardiography. Classification based on mitral anatomy and dysfunction can predict the risk of postoperative adverse events.
| S-EPMC8353112 | biostudies-literature
Project description:Sellar gangliocytomas (SGs) are rare, well-differentiated, low-grade neoplasias that commonly present along with a pituitary adenoma (PA). We describe a case of a 52-year-old woman with a 2-year history of headache, body weight increase, and recent onset of arterial hypertension and type 2 diabetes mellitus. Work-up tests revealed a normal hypophyseal profile, except for mild ACTH elevation, and a sellar mass on magnetic resonance imaging (MRI). A diagnosis of an enlarging pituitary macroadenoma was established, and to prevent symptom progression, the tumour was resected. Pathology showed 2 cell populations: ganglion and corticotrope cells. Three years after surgery, the patient no longer had a headache but persisted with arterial hypertension and type 2 diabetes mellitus. A literature review produced 207 cases of SGs. They typically present in women at 40 years of age and the most common clinical presentation are symptoms of acromegaly. Of the documented cases, 74 and 93% were treated with surgery alone or combined treatments (radiotherapy, radiosurgery, or pharmacotherapy), respectively. The majority of deaths associated with a SG came from the first half of the 20th century. In conclusion, this patient presented with a silent SG with likely pituitary hyperplasia. SGs are a challenging diagnosis, have a benign course, and may provide insights into PA tumourigenesis.
| S-EPMC8339522 | biostudies-literature
Project description:IntroductionMucocele is a slow growing, benign but locally aggressive cystic structure lined by true epithelium. It often results due to obstructed sinus outflow or obstruction of gland-like mucous retention cyst. It can cause bony destruction and might result in orbital symptoms like diplopia, orbital displacement, visual disturbances. Other clinical features are facial numbness, dental problems, etc. Radiological evaluation is the preferred diagnostic modality. Surgical removal is the treatment of choice both endoscopic and open (could well luc) approach or combined approach are preferred. Here we report a very typical case of maxillary mucocele who presented with subtle symptoms of nasal obstruction. The study was done in compliance with SCARE guidelines.[1].Case presentationWe present a very unique case of 24 years man with complaints of nasal obstruction and swelling over the right cheek for 2 years. He had a history of facial trauma two years back. Diagnosis was made on the basis of radiological examination CT (Computed Tomography) scan. He underwent enucleation via Cold well Luc's approach with good postoperative results.ConclusionMaxillary mucoceles are slow growing benign lesions. However, they are locally aggressive and cause bony destruction resulting into orbital and dental symptoms. Thus early recognistion with regular folllowr up and planning for surgical intervention can help avoid complications.
| S-EPMC6556524 | biostudies-literature
Project description:BackgroundIn most cases, the onset of frontotemporal dementia (FTD) occurs between the ages of 45 and 65 years. However, some patients experience an extremely early disease onset.ObjectiveTo investigate the clinical, genetic, and pathological features of extremely early-onset FTD.MethodsWe conducted a comprehensive clinical, genetic, and neuropathological analysis of a 25-year-old patient experiencing the onset of behavioral variant frontotemporal dementia (bvFTD). In addition, we conducted a literature review and summarized the clinical, genetic, and pathological features of patients with FTD with onset age≤25 years.ResultsThe patient was diagnosed with bvFTD; however, there was no family history of FTD, no positive genetic test results and no deposition of TDP43, tau, ubiquitin, and synuclein in the brain. Literature screening identified 18 patients with onset age ≤25 years with FTD. The youngest patient was 14 years of age. Most patients (8/14) had a positive family history. The most common clinical phenotype was the behavioral variant (12/14). Genetic results were reported for 11 patients; the most common pathogenic gene was MAPT (10/12), with four cases of G389 R, two cases of P301 S, one case of G335 S, one case of G335A, one case of G335 V, and one case of L315 R. Pathological results were reported for 13 patients; the most common pathological subtype was tau (8/13).ConclusionFTD can start at an extremely early age. The most common phenotype of extremely early onset FTD was the behavioral variant, the most common pathogenic gene was MAPT, and the most common neuropathological type was tau.
| S-EPMC9741737 | biostudies-literature
Project description:Pseudoaneurysms of the aortic root are rare. A case of prosthetic aortic valve infection progressing from a confined intramural abscess to a ruptured abscess communicating with the aorta and forming a large pseudoaneurysm is described. Additionally, data from all cases and case series, published between 2000 and 2021, was analyzed. A PUBMED search for the keywords "aortic root mycotic aneurysm," "aortic root abscess AND infective endocarditis," and "aortic root mycotic aneurysm AND infective endocarditis" yielded 152 publications (with 157 cases described): Aortic pseudoaneurysm is more common in males (80.9%, n = 127). Mean age is 51 years (4 months-84 years). The most common symptom is fever (68.5%, n = 102). Mean time until diagnosis is 27.2 days. Embolic complications are present in 17.8% (n = 28) at diagnosis. Most cases are due to valvular infections (n = 72 cases, 45.9%). Prior cardiac surgery is documented in 49.0% (n = 77). The mean time interval for developing aortic root abscess following heart surgery is 32.2 months. 22.3% (n = 35) are immunocompromised. Aetiological agents were Staphylococcus sp. (34.1%, n = 47) and Streptococcus sp. (23.2%, n = 32). Mean antimicrobial therapy lasts 58.5 days. Outcome with surgery is superior to medical treatment: overall inpatient mortality 18.5% (n = 27); with surgery 12.2% (n = 15 out of 123 patients), with only medical management 47.8% (n = 11 out of 23 patients). In conclusion, aortic root pseudoaneurysm occurs most commonly in middle-aged male patients. History of prior aortic procedures is commonly present. Correct diagnosis hinges on detailed history, transoesophageal echocardiography, and computed tomography (CT) aorta. Surgery is the preferred therapeutic option.Supplementary informationThe online version contains supplementary material available at 10.1007/s12055-023-01580-x.
| S-EPMC10728390 | biostudies-literature
Project description:BackgroundAortic dissection is rare in both children and adults. Misdiagnosis is common because of hidden symptoms, insufficient knowledge among pediatricians, and lack of consensus and guidelines. We aimed to report the clinical features of patients and enhance the diagnostic awareness of aortic dissection in children with acute chest pain or trauma, avoid delayed diagnosis and the subsequent worsening of clinical outcomes.Case descriptionWe presented three cases of pediatric aortic dissection and summarized our findings from the literature. We treated a 13-year-old boy with Stanford Type A aortic dissection, a 9-year-old boy with Stanford Type B aortic dissection, and an 11-year-old boy with Stanford Type A aortic dissection. Two patients had spontaneous aortic lesions, one had a traumatic aortic lesion, and all three were discharged from our hospital after thoracotomy. We searched the Medline database using PubMed and platforms such as Springer Link and Google Scholar with the search terms "aortic dissection" and "pediatric" or "children". We retrieved 27 reports describing 34 cases of aortic dissection in patients aged ≤16 years published from 1990 to 2024 to summarize the characteristics of precipitating factors, aortic dissection status, and clinical presentations.ConclusionsThe prognosis of children with aortic dissection after treatment is generally better than that of adults. In pediatric emergency settings, persistent chest pain that does not alleviate and cannot be attributed to common illnesses warrants heightened suspicion of aortic dissection. Surgical treatment should be promptly performed once the condition is diagnosed.
| S-EPMC11921325 | biostudies-literature