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3.
J Cardiothorac Surg ; 19(1): 432, 2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38987788

RESUMO

BACKGROUND: Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene. ATS is more likely to occur in Large and medium-sized arteries including the aorta and pulmonary arteries. This syndrome causes the arteries to be elongated and tortuous, This tortuosity disturbs the blood circulation resulting in stenosis and lack of blood flow to organs and this chronic turbulent flow increases the risk of aneurysm development, dissection and ischemic events. CASE PRESENTATION: A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension. After surgical repair the left pulmonary artery has a peak pressure gradient of 20 mmHg, with the right pulmonary artery having a peak pressure gradient of 20 mmHg. CONCLUSION: ATS is a rare genetic condition that affects the great arteries especially the pulmonary arteries causing stenotic and tortuous vessels that may be central branches or distal peripheral branches that leads to severe right ventricular dysfunction and hypertension. We believe that surgical treatment provides the optimum outcomes when compared to transcather approaches especially when the peripheral arteries are involved. Some challenges and hiccups might occur, especially lung reperfusion injury that needs to be diagnosed and treated accordingly.


Assuntos
Artéria Pulmonar , Dermatopatias Genéticas , Malformações Vasculares , Humanos , Artéria Pulmonar/cirurgia , Artéria Pulmonar/anormalidades , Feminino , Malformações Vasculares/cirurgia , Malformações Vasculares/complicações , Pré-Escolar , Dermatopatias Genéticas/cirurgia , Dermatopatias Genéticas/complicações , Dermatopatias Genéticas/genética , Procedimentos Cirúrgicos Vasculares/métodos , Estenose de Artéria Pulmonar/cirurgia , Instabilidade Articular/cirurgia , Instabilidade Articular/genética , Procedimentos de Cirurgia Plástica/métodos , Artérias/anormalidades
4.
Acta Neurochir (Wien) ; 166(1): 285, 2024 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-38977512

RESUMO

Cervicocerebral artery dissection stands out as a significant contributor to ischemic stroke in young adults. Several studies have shown that arterial tortuosity is associated with dissection. We searched Pubmed and Embase to identify studies on the association between arterial tortuosity and cervicocerebral artery dissection, and to perform a review on the epidemiology of cervicocerebral artery tortuosity and dissection, pathophysiology, measurement of vessels tortuosity, strength of association between tortuosity and dissection, clinical manifestation and management strategies. The prevalence of tortuosity in dissected cervical arteries was reported to be around 22%-65% while it is only around 8%-22% in non-dissected arteries. In tortuous cervical arteries elastin and tunica media degradation, increased wall stiffness, changes in hemodynamics as well as arterial wall inflammation might be associated with dissection. Arterial tortuosity index and vertebrobasilar artery deviation is used to measure the level of vessel tortuosity. Studies have shown an independent association between these two measurements and cervicocerebral artery dissection. Different anatomical variants of tortuosity such as loops, coils and kinks may have a different level of association with cervicocerebral artery dissection. Symptomatic patients with extracranial cervical artery dissection are often treated with anticoagulant or antiplatelet agents, while patients with intracranial arterial dissection were often treated with antiplatelets only due to concerns of developing subarachnoid hemorrhage. Patients with recurrent ischemia, compromised cerebral blood flow or contraindications for antithrombotic agents are usually treated with open surgery or endovascular technique. Those with subarachnoid hemorrhage and intracranial artery dissection are often managed with surgical intervention due to high risk of re-hemorrhage.


Assuntos
Dissecação da Artéria Vertebral , Humanos , Dissecação da Artéria Vertebral/diagnóstico por imagem , Artéria Vertebral/cirurgia , Artéria Vertebral/anormalidades , Artérias/anormalidades , Instabilidade Articular , Dermatopatias Genéticas , Malformações Vasculares
6.
J Plast Reconstr Aesthet Surg ; 95: 340-348, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38959620

RESUMO

BACKGROUND: Amyloidosis is characterized by extracellular amyloid protein deposition. When amyloidosis intersects with basal cell carcinoma (BCC), it introduces complex diagnostic challenges. This study explored the overlap between primary localized cutaneous amyloidosis (PLCA) and BCC, examining amyloid deposits in BCC, systemic amyloidosis risk in PLCA, and various treatment methods. METHODS: Two case studies were discussed, followed by a literature review, in which PubMed, Web of Science, EMBASE, and the Cochrane Library databases were utilized. The search, covering studies from infinity up to January 2024, focused on "cutaneous amyloidosis," "basal cell carcinoma," and related terms. Articles in English detailing the clinical presentation, diagnostic methods, treatment, and outcomes of cutaneous amyloidosis mimicking BCC were included. Data extraction and synthesis were performed by two independent reviewers. CASE SERIES: This study highlighted two cases exemplifying the complexity of diagnosing BCC and PLCA. The first case (a 64-year-old with a nodule on the cheek) and the second (a 67-year-old with a nodular lesion on the upper lip cheek) were initially suspected as BCC and were later identified as PLCA upon histopathological examination. DISCUSSION: The diagnosis of amyloidosis within BCC nodules remains a diagnostic challenge. Although their coexistence is relatively prevalent, their local recurrence rates remain debatable. Various diagnostic and therapeutic approaches have been suggested, such as topical creams and phototherapy. However, none have garnered conclusive and consistent evidence to establish reliable clinical application. CONCLUSION: The findings emphasized the importance of considering alternative pathologies in differential diagnoses. Future research should focus on understanding systemic amyloidosis risks and optimizing care for both conditions.


Assuntos
Carcinoma Basocelular , Neoplasias Cutâneas , Humanos , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/patologia , Diagnóstico Diferencial , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Pessoa de Meia-Idade , Idoso , Masculino , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/patologia , Feminino , Amiloidose/diagnóstico , Amiloidose Familiar/diagnóstico , Amiloidose Familiar/patologia
7.
Arch Dermatol Res ; 316(6): 333, 2024 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-38844593

RESUMO

BACKGROUND: Stiff skin syndrome (SSS) is a rare disease characterized by thickened, indurated skin and limited joint movement. Multiple diverse phenotypes have been reported, and the correlation of severity with the clinical heterogeneity and histopathological findings of SSS needs to be refined. OBJECTIVE: To define subtypes based on clinical features and predict the prognosis of a new SSS classification. METHODS: Eighty-three patients with SSS were retrospectively reviewed for clinicopathological manifestations and routine laboratory workup, including 59 cases obtained from a PubMed search between 1971 and 2022 and 24 cases diagnosed in our department between 2003 and 2022. RESULTS: Among the 83 patients, 27.7, 41, and 31.3% had classic widespread, generalized segmental, and localized SSS, respectively. Joint immobility was present in 100, 71, and 20% of classic, generalized, and localized cases, respectively. Histopathologic findings were common among the 3 groups, and based on that, we further found a difference in the distribution of proliferative collagen. 54.5% of classic and 50% of generalized cases occurred throughout the dermis or the subcutis, whereas 76% of localized cases were mainly involved in the reticular dermis or subcutis. In patients with incipient localized SSS, 42% (21/50) developed generalized SSS, and only 6% (3/50) progressed to classic SSS, whereas more than half of the incipient generalized SSS cases (60.6%, 20/33) developed classic SSS. LIMITATIONS: This retrospective study was limited to previously published cases with limited data. CONCLUSIONS: We propose a distinct clinical classification characterized by lesion distribution, including classic widespread, generalized segmental, and localized SSS, associated with disease severity and prognosis.


Assuntos
Pele , Humanos , Feminino , Masculino , Estudos Retrospectivos , Adulto , Pessoa de Meia-Idade , Adolescente , Pele/patologia , Adulto Jovem , Criança , Prognóstico , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/classificação , Dermatopatias Genéticas/patologia , Idoso , Índice de Gravidade de Doença , Pré-Escolar , Colágeno/metabolismo , Contratura
9.
Int J Mol Sci ; 25(11)2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38892036

RESUMO

The extracellular matrix is a complex network of proteins and other molecules that are essential for the support, integrity, and structure of cells and tissues within the human body. The genes ZNF469 and PRDM5 each produce extracellular-matrix-related proteins that, when mutated, have been shown to result in the development of brittle cornea syndrome. This dysfunction results from aberrant protein function resulting in extracellular matrix disruption. Our group recently identified and published the first known associations between variants in these genes and aortic/arterial aneurysms and dissection diseases. This paper delineates the proposed effects of mutated ZNF469 and PRDM5 on various essential extracellular matrix components, including various collagens, TGF-B, clusterin, thrombospondin, and HAPLN-1, and reviews our recent reports associating single-nucleotide variants to these genes' development of aneurysmal and dissection diseases.


Assuntos
Matriz Extracelular , Fatores de Transcrição , Humanos , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Matriz Extracelular/metabolismo , Matriz Extracelular/genética , Instabilidade Articular/genética , Instabilidade Articular/congênito , Histona-Lisina N-Metiltransferase/genética , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/patologia , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/patologia , Aneurisma Aórtico/genética , Mutação , Proteínas de Ligação a DNA/genética , Dermatopatias Genéticas/genética , Dermatopatias Genéticas/patologia , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Anormalidades do Olho , Anormalidades da Pele
10.
Adv Skin Wound Care ; 37(7): 387-391, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38899821

RESUMO

ABSTRACT: Intravenous plasminogen replacement therapy for patients with plasminogen deficiency type 1 (hypoplasminogenemia) was recently approved for marketing in the US. In this case report, the authors describe a 33-year-old man with hypoplasminogenemia who developed nonhealing postsurgical wounds following trauma to his right hand despite receiving standard treatment for 4 months. The patient was enrolled in a compassionate-use protocol with intravenous plasminogen replacement therapy and experienced prompt resolution of surgical wounds. He was the first human patient to receive replacement therapy with plasminogen, human-tvmh in the US and first to demonstrate cutaneous wound healing in addition to resolution of ligneous lesions attributable to plasminogen deficiency type 1.


Assuntos
Plasminogênio , Cicatrização , Humanos , Masculino , Adulto , Cicatrização/efeitos dos fármacos , Plasminogênio/deficiência , Plasminogênio/uso terapêutico , Administração Intravenosa , Resultado do Tratamento , Traumatismos da Mão/complicações , Traumatismos da Mão/cirurgia , Ferida Cirúrgica/tratamento farmacológico , Ferida Cirúrgica/complicações , Conjuntivite , Dermatopatias Genéticas
11.
J Am Heart Assoc ; 13(13): e035171, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38904248

RESUMO

BACKGROUND: Cervical arterial tortuosity is associated with adverse outcomes in Loeys-Dietz syndrome and other heritable aortopathies. METHODS AND RESULTS: A method to assess tortuosity based on curvature of the vessel centerline in 3-dimensional space was developed. We measured cervical carotid tortuosity in 65 patients with Loeys-Dietz syndrome from baseline computed tomography angiogram/magnetic resonance angiogram and all serial images during follow-up. Relations between baseline carotid tortuosity, age, aortic root diameter, and its change over time were compared. Patients with unoperated aortic roots were assessed for clinical end point (type A aortic dissection or aortic root surgery during 4 years of follow-up). Logistic regression was performed to assess the likelihood of clinical end point according to baseline carotid tortuosity. Total absolute curvature at baseline was 11.13±5.76 and was relatively unchanged at 8 to 10 years (fold change: 0.026±0.298, P=1.00), whereas tortuosity index at baseline was 0.262±0.131, with greater variability at 8 to 10 years (fold change: 0.302±0.656, P=0.818). Baseline total absolute curvature correlated with aortic root diameter (r=0.456, P=0.004) and was independently associated with aortic events during the 4-year follow-up (adjusted odds ratio [OR], 2.64 [95% CI, 1.02-6.85]). Baseline tortuosity index correlated with age (r=0.532, P<0.001) and was not associated with events (adjusted OR, 1.88 [95% CI, 0.79-4.51]). Finally, baseline total absolute curvature had good discrimination of 4-year outcomes (area under the curve=0.724, P=0.014), which may be prognostic or predictive. CONCLUSIONS: Here we introduce cervical carotid tortuosity as a promising quantitative biomarker with validated, standardized characteristics. Specifically, we recommend the adoption of a curvature-based measure, total absolute curvature, for early detection or monitoring of disease progression in Loeys-Dietz syndrome.


Assuntos
Artérias Carótidas , Angiografia por Tomografia Computadorizada , Síndrome de Loeys-Dietz , Angiografia por Ressonância Magnética , Humanos , Feminino , Masculino , Medição de Risco , Adulto , Síndrome de Loeys-Dietz/genética , Síndrome de Loeys-Dietz/complicações , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Loeys-Dietz/diagnóstico por imagem , Pessoa de Meia-Idade , Artérias Carótidas/diagnóstico por imagem , Artérias Carótidas/patologia , Fatores de Risco , Adulto Jovem , Valor Preditivo dos Testes , Dissecção Aórtica/diagnóstico por imagem , Dissecção Aórtica/diagnóstico , Dissecção Aórtica/cirurgia , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/diagnóstico , Imageamento Tridimensional , Reprodutibilidade dos Testes , Dermatopatias Genéticas/genética , Dermatopatias Genéticas/diagnóstico por imagem , Dermatopatias Genéticas/diagnóstico
12.
Photodiagnosis Photodyn Ther ; 48: 104227, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38821237

RESUMO

BACKGROUND: Dissecting cellulitis of the scalp (DCS) has a significant impact on the physical well-being and body image of the patient. Since DCS often responds poorly to conventional treatments, there is a need to identify alternative treatment strategies. This study aimed to explore the effectiveness of 5-aminolevulinic acid photodynamic therapy (ALA-PDT) in treating DCS. METHODS: Twelve male patients with DCS treated solely with ALA-PDT between June 2022 and June 2023 at our institution were enrolled in this study. Two patients underwent a biopsy before and after treatment for comparison. The efficacy of the treatments was assessed 10 days after treatment by evaluating the symptom scores recorded on medical records and by assessing the photographs acquired before and after treatment. In addition, the impact of the treatment on pain relief and median recurrence rate were also extracted. RESULTS: Out of the 12 enrolled patients, the majority of the patients (75%) had a significant reduction in the nodules or abscesses. The pain relief was significant in 3 patients (25%), and moderate in 7 patients (58.3%). For the subcutaneous sinus tract symptoms, 3 patients (27.3%) showed moderate improvement, and 7 (63.6%) had a mild improvement. Six patients (75%) had mild improvement in their alopecia. The pathology results showed a decrease in the number of lymphocytes, macrophages, and neutrophils within the skin lesions following the administration of ALA-PDT. CONCLUSION: ALA-PDT can effectively reduce the DCS symptoms and the number of lymphocytes, macrophages, and neutrophils within the skin lesions.


Assuntos
Ácido Aminolevulínico , Celulite (Flegmão) , Fotoquimioterapia , Fármacos Fotossensibilizantes , Dermatoses do Couro Cabeludo , Humanos , Ácido Aminolevulínico/uso terapêutico , Masculino , Fotoquimioterapia/métodos , Fármacos Fotossensibilizantes/uso terapêutico , Celulite (Flegmão)/tratamento farmacológico , Estudos Retrospectivos , Pessoa de Meia-Idade , Adulto , Dermatoses do Couro Cabeludo/tratamento farmacológico , Dermatopatias Genéticas/tratamento farmacológico , Idoso , Couro Cabeludo
15.
Sci Rep ; 14(1): 11318, 2024 05 17.
Artigo em Inglês | MEDLINE | ID: mdl-38760396

RESUMO

The effect of arterial tortuosity on intracranial atherosclerosis (ICAS) is not well understood. This study aimed to evaluate the effect of global intracranial arterial tortuosity on intracranial atherosclerotic burden in patients with ischemic stroke. We included patients with acute ischemic stroke who underwent magnetic resonance angiography (MRA) and classified them into three groups according to the ICAS burden. Global tortuosity index (GTI) was defined as the standardized mean curvature of the entire intracranial arteries, measured by in-house vessel analysis software. Of the 516 patients included, 274 patients had no ICAS, 140 patients had a low ICAS burden, and 102 patients had a high ICAS burden. GTI increased with higher ICAS burden. After adjustment for age, sex, vascular risk factors, and standardized mean arterial area, GTI was independently associated with ICAS burden (adjusted odds ratio [adjusted OR] 1.33; 95% confidence interval [CI] 1.09-1.62). The degree of association increased when the arterial tortuosity was analyzed limited to the basal arteries (adjusted OR 1.48; 95% CI 1.22-1.81). We demonstrated that GTI is associated with ICAS burden in patients with ischemic stroke, suggesting a role for global arterial tortuosity in ICAS.


Assuntos
Arteriosclerose Intracraniana , Angiografia por Ressonância Magnética , Humanos , Feminino , Masculino , Arteriosclerose Intracraniana/diagnóstico por imagem , Arteriosclerose Intracraniana/patologia , Arteriosclerose Intracraniana/complicações , Idoso , Pessoa de Meia-Idade , AVC Isquêmico/diagnóstico por imagem , AVC Isquêmico/patologia , Fatores de Risco , Artérias Cerebrais/diagnóstico por imagem , Artérias Cerebrais/patologia , Artérias/anormalidades , Instabilidade Articular , Dermatopatias Genéticas , Malformações Vasculares
16.
Khirurgiia (Mosk) ; (5): 146-151, 2024.
Artigo em Russo | MEDLINE | ID: mdl-38785251

RESUMO

The review is devoted to diagnosis and treatment of internal carotid artery tortuosity. The authors consider modern classification, epidemiology and diagnostic options using neuroimaging or ultrasound-assisted functional stress tests depending on medical history and complaints. In addition to standard Doppler ultrasound, rotational and orthostatic tests are advisable due to possible changes of local shape and hemodynamic parameters following body position changes, especially in patients with concomitant atherosclerotic stenosis. Thus, a personalized approach is especially important for treatment and diagnostics of internal carotid artery tortuosity.


Assuntos
Artéria Carótida Interna , Humanos , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/anormalidades , Artéria Carótida Interna/fisiopatologia , Aterosclerose/diagnóstico , Aterosclerose/complicações , Aterosclerose/fisiopatologia , Estenose das Carótidas/fisiopatologia , Estenose das Carótidas/complicações , Estenose das Carótidas/diagnóstico , Ultrassonografia Doppler/métodos , Malformações Vasculares/diagnóstico , Malformações Vasculares/fisiopatologia , Malformações Vasculares/complicações , Artérias/anormalidades , Instabilidade Articular , Dermatopatias Genéticas
17.
Arch Dermatol Res ; 316(6): 282, 2024 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-38796611

RESUMO

Skin cancers are associated with a large number of genodermatoses. Existing knowledge and guidelines on the presentations of these genodermatoses focus disproportionately on White patients. Our goal is to identify notable characteristics in location, frequency, and severity of cutaneous findings along with the median age of skin cancers in skin-of-color (SOC) patients with skin-cancer-associated genodermatoses to improve diagnosis rates. We searched for genodermatoses on six databases. Each case report or case series was reviewed, including reports, published in English, containing adult patient descriptions. Duplicate manuscripts were removed using EndNote. The following case-level data were collected from the manuscripts: age, gender, patient country or region of origin, author country/continent of residence, skin cancer-related, and other key dermatologic features. 381 published articles, with a total of 578 SOC patients, met criteria for inclusion. SOC patients can present with fewer classic findings, such as a lower incidence of basal cell carcinomas (44%) in SOC Gorlin syndrome patients than palmar pits (66%) and mandibular cysts (66%). Differences between SOC populations were also noted, such as leukoplakia being more common in Asian dyskeratosis congenita patients (80%) in comparison to African dyskeratosis congenita patients (44%). SOC patients also have varying onset of skin cancer depending on the genodermatosis, from a median of 25 years of age in Rothmund-Thomson syndrome to 53 in Muir-Torre syndrome. In this review, SOC patients with genodermatoses can have varying presentations. Being cognizant of these characteristics may lead to earlier diagnosis and interventions to mitigate skin-cancer-related morbidity in SOC patients.


Assuntos
Neoplasias Cutâneas , Feminino , Humanos , Masculino , Carcinoma Basocelular/epidemiologia , Carcinoma Basocelular/patologia , Carcinoma Basocelular/diagnóstico , Pele/patologia , Dermatopatias Genéticas/epidemiologia , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/patologia , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Minorias Étnicas e Raciais
18.
Khirurgiia (Mosk) ; (5): 95-100, 2024.
Artigo em Russo | MEDLINE | ID: mdl-38785244

RESUMO

A personalized approach with attention to anamnesis and specific symptoms is necessary in patients with internal carotid artery tortuosity. Neuroimaging (especially before elective surgery) or functional stress tests following ultrasound of supra-aortic vessels may be necessary depending on medical history and complaints. In addition to standard Doppler ultrasound, these patients should undergo rotational and orthostatic transformation tests. We analyze changes in shape and hemodynamic parameters within the tortuosity area in various body positions. This is especially valuable for patients with concomitant carotid artery stenosis. The article presents a clinical case illustrating the importance of such approach.


Assuntos
Artéria Carótida Interna , Estenose das Carótidas , Humanos , Artérias/anormalidades , Aterosclerose/complicações , Aterosclerose/diagnóstico , Aterosclerose/fisiopatologia , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/anormalidades , Artéria Carótida Interna/fisiopatologia , Estenose das Carótidas/fisiopatologia , Estenose das Carótidas/complicações , Estenose das Carótidas/diagnóstico , Estenose das Carótidas/cirurgia , Hemodinâmica/fisiologia , Instabilidade Articular , Dermatopatias Genéticas , Ultrassonografia Doppler/métodos , Malformações Vasculares/diagnóstico , Malformações Vasculares/complicações , Malformações Vasculares/fisiopatologia
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