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1.
Genes (Basel) ; 15(8)2024 Aug 02.
Artículo en Inglés | MEDLINE | ID: mdl-39202375

RESUMEN

Alport syndrome (AS) is a hereditary glomerulopathy due to pathogenic variants in COL4A3, COL4A4, and COL4A5. Treatment with Renin-Angiotensin-Aldosterone System (RAAS) inhibitors can delay progression to end stage renal disease (ESRD). From 2018 until today, we performed Whole Exome Sequencing (WES) in 19 patients with AS phenotype with or without positive family history. Fourteen of these patients were children. Genetic testing was extended to family members at risk. All patients received a genetic diagnosis of AS: five X-linked AS (XLAS) males, five X-linked AS (XLAS) females, six autosomal dominant AS (ADAS), and one autosomal recessive AS (ARAS). After cascade screening four XLAS males and eight XLAS females, six ADAS and three ARAS heterozygotes were added to our initial results. Fifteen patients were eligible to start treatment with RAAS inhibitors after their diagnosis. All XLAS female patients, ARAS heterozygotes, and ADAS have been advised to be followed up, so that therapeutic intervention can begin in the presence of microalbuminuria. Genetic diagnosis of AS ensures early therapeutic intervention and appropriate follow up to delay progression to chronic kidney disease, especially in thet pediatric population.


Asunto(s)
Nefritis Hereditaria , Humanos , Nefritis Hereditaria/genética , Nefritis Hereditaria/diagnóstico , Femenino , Masculino , Niño , Preescolar , Adolescente , Pruebas Genéticas/métodos , Secuenciación del Exoma , Colágeno Tipo IV/genética , Diagnóstico Precoz , Lactante , Mutación , Adulto , Fallo Renal Crónico/genética , Fallo Renal Crónico/diagnóstico , Fenotipo
2.
J Endovasc Ther ; 30(2): 296-301, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-35098775

RESUMEN

PURPOSE: The purpose of the paper is to report the clinical outcomes of 4 patients with ruptured abdominal aortic aneurysm (AAA) during (3 patients) or immediately after (1 patient) moderate-severe SARS-CoV-2 infection. We discuss COVID-19-related mechanisms which could impact AAA rupture. PATIENTS AND METHODS: During the period of the pandemic (March 2020-May 2021), we performed surgery in 18 patients with ruptured AAA. Four patients were affected by moderate or severe SARS-CoV-2 infection (in 3 patients the rupture occurred during the infection and in 1 patient 3. months after discharge from the hospital). Two patients underwent open repair and 2 endovascular surgery. RESULTS: No postoperative mortality and no major complication occurred. Rapid growth of the AAA in comparison with a previous Duplex scan was evident in all 4 patients. CONCLUSIONS: Family doctors and vascular surgeons should be aware about the possibility of AAA degeneration in patients with moderate-severe COVID19 infection. The risk is increased by steroid therapy which is essential in more advanced stages of the infection. In this clinical setting, endovascular repair is a valid choice.


Asunto(s)
Aneurisma de la Aorta Abdominal , Rotura de la Aorta , Implantación de Prótesis Vascular , COVID-19 , Procedimientos Endovasculares , Humanos , Resultado del Tratamiento , COVID-19/complicaciones , SARS-CoV-2 , Aneurisma de la Aorta Abdominal/diagnóstico por imagen , Aneurisma de la Aorta Abdominal/cirugía , Rotura de la Aorta/diagnóstico por imagen , Rotura de la Aorta/etiología , Rotura de la Aorta/cirugía , Procedimientos Endovasculares/efectos adversos , Factores de Riesgo , Implantación de Prótesis Vascular/efectos adversos
3.
J Surg Res ; 272: 146-152, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-34973548

RESUMEN

BACKGROUND: The aim of our study was to compare COVID-19- and not-COVID-19-related mortality rates in two Italian regions during the pandemic period when the same isolation rules and therapeutic approaches were introduced for all hospitals in Italy. Risk factors for not-COVID-19-related deaths during the pandemic were analyzed; we tried to assess a possible correlation between reducing hospital visits and "deferrable" vascular operations and the increased cardiovascular mortality not related to COVID-19 infection. METHODS: We analyzed COVID-19- and not-COVID-19-related mortality rates in two Italian regions in the period January 2020-January 2021. We compared mortality rates during the pandemic period with those of the previous five years. We tried to determine the factors involved in increased mortality rates during the pandemic period. RESULTS: Despite the same isolation rules for people and the same therapeutic approaches for hospitals, mortality rates did not increase in the region Lazio, where the pandemic was not severe. In the region Lombardy, the mortality rate was doubled in comparison with the previous years, and 50% of the increase was related to not-COVID-19 deaths. CONCLUSIONS: The increase in mortality rates for not-COVID-19-related deaths in the region Lombardy was connected to the generalized turmoil in the acute phase of an overwhelming pandemic, including diffuse stress, inadequate communications, reluctance to ask for medical help unless symptoms were severe, and unexpected inadequate number of health workers, hospital beds, and intensive care unit beds. Reduced hospital visits may have had a fundamental role.


Asunto(s)
COVID-19 , Enfermedades Cardiovasculares , Enfermedades Cardiovasculares/mortalidad , Humanos , Italia/epidemiología , Pandemias , Factores de Riesgo , SARS-CoV-2
7.
Ann Vasc Surg ; 73: 525-528, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33503501
9.
Ann Vasc Surg ; 72: 191-195, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33333189

RESUMEN

INTRODUCTION: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection represents a serious threat to public health because it leads to a wide spectrum of clinical manifestations. The region Lombardia (Italy) has suffered from severe problems during the acute phase of the outbreak in Italy (March-April 2020). The aim of our analysis is to report the experience of the Department of Vascular Surgery of Pavia, including the learned lessons and future perspectives, considering that the COVID-19 outbreak is in its acute phase in other continents. MATERIAL AND METHODS: Single-center, retrospective, observational study based on extracted data from the medical records of all consecutive COVID-19 patients observed in our Vascular Department between March 1st and April 30th, 2020. We reviewed the records for demographic information, comorbidities, laboratory tests, and anticoagulation treatment at the time of hospital admission. RESULTS: We observed an important reduction in elective and urgent interventions compared to the same period of the previous year; in parallel, we observed an increase in the diagnosis of deep vein thrombosis (DVT) in hospitalized patients, especially with severe infection. In our department, four infections were reported among health workers. CONCLUSIONS: The impact of the COVID19 pandemic on health-care delivery has been massive. A wave of vascular-related complications is expected. Regular SARS-CoV-2 screening, adequate protection, and quick reorganization of health-care resources are still needed.


Asunto(s)
COVID-19/epidemiología , Servicio de Cirugía en Hospital/organización & administración , Procedimientos Quirúrgicos Vasculares/estadística & datos numéricos , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Pandemias , Complicaciones Posoperatorias/mortalidad , Estudios Retrospectivos , SARS-CoV-2
11.
Ann Vasc Surg ; 71: 535.e17-535.e20, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33160053

RESUMEN

The 10-30% of iliac aneurysms involve the internal iliac arteries (IIAs), and their repair still remains a challenge. The endovascular techniques have become the treatment of choice in relation to the improvement of materials, techniques, and less morbidity/mortality compared with open surgery. Regardless of the use of open or endovascular surgery, the preservation of hypogastric blood flow is strongly recommended in the case of occlusion of the contralateral. We describe a case of the use over the instructions for use (IFU), of the GORE Excluder iliac extension for the total successful endovascular exclusion of a voluminous IIA aneurysm in chronic contralateral occlusion. This use over the IFU is applicable and effective in selected patients.


Asunto(s)
Implantación de Prótesis Vascular/instrumentación , Prótesis Vascular , Procedimientos Endovasculares/instrumentación , Aneurisma Ilíaco/cirugía , Toma de Decisiones Clínicas , Humanos , Aneurisma Ilíaco/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Etiquetado de Productos , Diseño de Prótesis , Resultado del Tratamiento
12.
Surgery ; 168(6): 987-992, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33039110

RESUMEN

BACKGROUND: The Lombardy region suffered severely during the acute phase of the coronavirus disease 2019 outbreak in Italy (Mar-Apr 2020) with 16,000 diagnosed coronavirus disease 2019-related deaths (49% of the total coronavirus disease 2019-related deaths in Italy). In the area surrounding Pavia during the critical stage of the outbreak (Mar-Apr 2020), 1,225 of the documented 4,200 deaths were related to coronavirus disease 2019 infection, with a mortality rate of 181/100,000 inhabitants and an increase in deaths of 138% compared with the same period during previous years. Our aim was to report the experience of the Department of Vascular Surgery of Pavia (Lombardy, Italy), including the lessons learned and future perspectives regarding the management of coronavirus disease 2019 patients who developed severe acute ischemia with impending lower limb loss or deep vein thrombosis. MATERIALS AND METHODS: We carried out a retrospective data collection of coronavirus disease 2019 patients with severe acute ischemia of the lower limbs or deep vein thrombosis, which we observed in our department during the period March 1, 2020, to April 30, 2020. Primary outcomes of the analysis were postoperative mortality for all patients and amputation rates only in those coronavirus disease 2019 patients suffering from acute lower limb ischemia. Secondary outcomes were the prevalence of the disease among admitted coronavirus disease 2019 patients, and any possible correlation among inflammatory parameters, thrombolytic status, and the presence of acute ischemia or deep vein thrombosis. RESULTS: We observed 38 patients (28 male) with severe coronavirus disease 2019 infection (6 with lower limb arterial thrombosis and 32 with deep vein thrombosis). The median patient age was 64 years (range 30-94 y). In the arterial group, 3 had thrombosis on plaque and 3 on healthy arteries ("simple" arterial thrombosis). All underwent operative or hybrid (open/endo) revascularization; 1 patient died from major organ failure and 1 patient underwent major amputation. In the deep vein thrombosis group, 9 (28%) patients died from major organ failure, despite aggressive medical therapy. In patients with simple arterial thrombosis and those with deep vein thrombosis, we observed a decrease in inflammatory parameters (C-reactive protein) and in D-dimer and fibrinogen after aggressive therapy (P <.001). CONCLUSION: Our study confirms that critically ill, coronavirus disease 2019 patients who develop arterial and deep vein thrombosis have a high risk of mortality, but, if treated properly, there is an improvement in overall survival, especially in patients of 60 years of age or younger.


Asunto(s)
COVID-19/complicaciones , Pandemias , Medicina de Precisión/métodos , Medición de Riesgo/métodos , SARS-CoV-2 , Trombosis/etiología , Tromboembolia Venosa/etiología , Adulto , Anciano , Anciano de 80 o más Años , Arterias , COVID-19/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Riesgo , Trombosis/epidemiología , Procedimientos Quirúrgicos Vasculares , Tromboembolia Venosa/epidemiología
13.
Ann Vasc Surg ; 66: 11-13, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32335249

RESUMEN

Little or nothing is known about the correlation between the upper limb deep vein thrombosis (UL-DVT) and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We describe the increased risk of UL-DVT in 3 patients with SARS-CoV-2 who require continuous positive airway pressure with a hood and the need for early adequate antithrombotic prophylaxis.


Asunto(s)
Betacoronavirus , Presión de las Vías Aéreas Positiva Contínua/efectos adversos , Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/terapia , Neumonía Viral/complicaciones , Neumonía Viral/terapia , Extremidad Superior/irrigación sanguínea , Trombosis de la Vena/etiología , Anciano , COVID-19 , Humanos , Masculino , Persona de Mediana Edad , Pandemias , SARS-CoV-2 , Trombosis de la Vena/prevención & control
14.
BMC Nephrol ; 18(1): 113, 2017 03 31.
Artículo en Inglés | MEDLINE | ID: mdl-28359257

RESUMEN

BACKGROUND: Increased plasma Urotensin II (UII) levels have been found in adults with renal diseases. Studies in children are scarce. The objective of the study is to estimate plasma UII levels in subjects with chronic kidney disease (CKD) stages 3 to 5 and renal transplant recipients (RTR). In addition, the correlation of UII with anthropometric features and biochemical parameters was assessed. METHODS: Fifty-four subjects, aged 3 to 20 years old, 23 with CKD, 13 with end-stage kidney disease (ESKD) undergoing hemodialysis (HD) and 18 RTR were enrolled. A detailed clinical evaluation was performed. Biochemical parameters of renal and liver function were measured. Plasma UII levels were measured in all patients and in 117 healthy controls, using a high sensitive enzyme immunoassay (EIA) kit. All data were analyzed using STATA™ (Version 10.1). RESULTS: Median UII and mean log-transformed UII levels were significantly higher in CKD and RTR patients compared to healthy subjects (p < 0.001). HD patients had higher but not statistically significant UII and log-UII levels than controls. UII levels increased significantly at the end of the HD session and were higher than controls and in line to those of other patients. The geometric scores of UII in HD (before dialysis), CKD and RTR patients increased respectively by 42, 136 and 164% in comparison with controls. Metabolic acidosis was associated with statistical significant change in log-UII levels (p = 0.001). Patients with metabolic acidosis had an increase in UII concentration by 76% compared to those without acidosis. CONCLUSIONS: Children and adolescents with CKD, particularly those who are not on HD and RTR, have significantly higher levels of UII than healthy subjects. UII levels increase significantly at the end of the HD session. The presence of metabolic acidosis affects significantly plasma UII levels.


Asunto(s)
Fallo Renal Crónico/sangre , Trasplante de Riñón , Diálisis Renal , Insuficiencia Renal Crónica/sangre , Urotensinas/sangre , Acidosis/sangre , Acidosis/complicaciones , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Técnicas para Inmunoenzimas , Fallo Renal Crónico/terapia , Masculino , Insuficiencia Renal Crónica/complicaciones , Índice de Severidad de la Enfermedad , Adulto Joven
15.
Odontol. clín.-cient ; 10(2): 147-152, Abr.-Jun. 2011. ilus, tab
Artículo en Portugués | LILACS | ID: lil-725256

RESUMEN

O objetivo deste trabalho foi o de investigar a ocorrência da Síndrome de Burnout em estudantes, durante o período da formação acadêmica, em uma faculdade de odontologia do sistema público do estado de Pernambuco, através de um estudo do tipo coorte prospectivo, analítico, realizado com 65 estudantes regularmente matriculados e ingressantes em 2007.2 e 2008.1 e submetidos a dois modelos curriculares distintos. Os dados foram obtidos através de um questionário sociodemográfico e do Maslach Burnout Inventory - Student Survey (MBI-SS). O projeto foi aprovado pelo Comitê de Ética da Universidade de Pernambuco por meio do Parecer 031/2009. Os resultados indicaram que 6,1% dos entrevistados estão com a síndrome, e 4,5% estão em situação de risco para a SB, mas a maioria dos alunos dos currículos antigo e novo encontra-se sem síndrome de Burnout. O modelo curricular se associou significativamente à exaustão emocional e a eficácia profissional, enquanto que o sexo associou-se significativamente à dimensão de exaustão emocional na amostra geral.


The aim of this study was to investigate the occurrence of burnout syndrome among students during the academic training in a dental school of Pernambuco's public system through a prospective cohort study, analytical, accomplished with 65 enrolled students and freshmen at 2007.2 and 2008.1 and submitted to two diff erent curriculum models. Data were obtained from a sociodemographic questionnaire and the Maslach Burnout Inventory - Student Survey (MBI-SS). The project was approved by the Ethics Committee at the University of Pernambuco Opinion 031/2009. The results indicated that 6.1% of respondents are with the syndrome and 4.5% are at risk for SB but most students of the old and new curricula is without burnout. The model curriculum routed the period was significantly associated with emotional exhaustion and professional efficacy, whereas sex was significantly associated with the dimensions of emotional exhaustion in the overall sample.

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