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2.
Arch. Soc. Esp. Oftalmol ; 98(12): 673-679, dic. 2023. tab
Artigo em Espanhol | IBECS | ID: ibc-228142

RESUMO

Objective To estimate the epidemiology of Leber's optic neuropathy (NOHL) in the Region of Madrid. Material and methodsThe neuro-ophthalmologists who work at public hospitals of the CAM were interviewed by telephone. They were asked about the number of patients with NOHL that they had diagnosed during the time that they had been responsible for the neuro-ophthalmology department of that public hospital. The time worked and the population attended by the hospital were used to calculate the number of patient-years in follow-up by each center during the corresponding period. The basic information of each case (date of birth, mutation, and date of visual loss) was registered to avoid duplications. Results Our work estimates a global incidence of 2.34 cases for 10,000,000 inhabitants-year and a prevalence estimated from incidence of one case for each 106,682 inhabitants. This prevalence was very similar in all the studied areas and considerably lower than that reported by other studies. Conclusion This work constitutes the first approach to the epidemiology of this disease in Spain. The prevalence of NOHL in the region of Madrid is probably lower than that reported in the literature in other regions. The prevalence and the incidence were homogeneously low in the 26 studied areas. (AU)


Objetivo Estimar la epidemiología (incidencia y prevalencia) de la neuropatía óptica de Leber (NOHL) en la comunidad autónoma de Madrid (CM). Material y métodosLos neuroftalmólogos que trabajan en los hospitales públicos de la CAM fueron entrevistados telefónicamente. Se les preguntó por el número de pacientes con NOHL que habían diagnosticados durante el tiempo que han sido responsables de la consulta de neuroftalmología de ese hospital público. El tiempo trabajado y la población atendida por el hospital se utilizaron para calcular el número de habitantes-años en seguimiento por cada centro durante el periodo correspondiente y estimar la incidencia en cada área. La prevalencia estimada a partir de la incidencia (PEI) se calculó considerando que un paciente con NOHL vive unos 40 años con la enfermedad. Se registró la información básica de cada caso cuando estaba disponible (sexo, fecha de nacimiento, mutación, fecha de la pérdida visual) para evitar duplicaciones. Resultados Nuestro trabajo estima una incidencia global de 2,34 casos por cada 10.000.000 habitantes-año y una PEI de 1 caso por cada 106.682 habitantes. Esta prevalencia es inferior a la referida por otros estudios. Conclusión Este trabajo constituye la primera aproximación a la epidemiología de esta enfermedad en España. La prevalencia estimada de la NOHL en la CM es probablemente inferior a la reportada en la literatura en otras regiones. La prevalencia y la incidencia fueron homogéneamente bajas en las 26 áreas estudiadas. (AU)


Assuntos
Humanos , Masculino , Feminino , Atrofia Óptica Hereditária de Leber/epidemiologia , Doenças do Nervo Óptico/epidemiologia , Doenças Raras , Inquéritos e Questionários , Espanha/epidemiologia , Prevalência , Incidência
3.
Hipertens. riesgo vasc ; 40(4): 215-221, oct.-dic. 2023. tab
Artigo em Inglês | IBECS | ID: ibc-228417

RESUMO

Primary aldosteronism (PA) is the most common cause of secondary arterial hypertension. For unilateral cases, surgery offers the possibility of cure, with unilateral adrenalectomy being the treatment of choice, whereas bilateral forms of PA are treated mainly with mineralocorticoid receptor antagonists (MRA). The goals of treatment for PA due to either unilateral or bilateral adrenal disease include reversal of the adverse cardiovascular effects of hyperaldosteronism, normalization of serum potassium in patients with hypokalemia, and normalization of blood pressure. The Primary Aldosteronism Surgery Outcome group (PASO) published a study defining clinical and biochemical outcomes based on blood pressure and correction of hypokalemia and aldosterone to renin ratio (ARR) levels for patients undergoing total unilateral adrenalectomy for unilateral PA. In this review, we provide several practical recommendations for the medical and surgical management and follow-up of patients with PA. (AU)


El hiperaldosteronismo primario (HAP) es la causa más frecuente de hipertensión arterial secundaria. Para los casos unilaterales, la cirugía ofrece la posibilidad de curación, siendo la adrenalectomía unilateral el tratamiento de elección, mientras que las formas bilaterales de HAP se tratan principalmente con antagonistas del receptor de mineralocorticoides (ARM). Los objetivos del tratamiento del HAP debido a enfermedad suprarrenal unilateral o bilateral incluyen la reversión de los efectos cardiovasculares adversos del hiperaldosteronismo, la normalización del potasio sérico en pacientes con hipopotasemia y la normalización de la presión arterial. El grupo Primary Aldosteronism Surgery Outcome (PASO) publicó un estudio que define los resultados clínicos y bioquímicos en función de la presión arterial y la corrección de la hipopotasemia y los niveles del cociente aldosterona/renina (ARR) para pacientes sometidos a adrenalectomía unilateral total por HAP unilateral. En esta revisión ofrecemos varias recomendaciones prácticas para el manejo y el seguimiento médico-quirúrgico de los pacientes con HAP. (AU)


Assuntos
Humanos , Hipertensão/terapia , Hiperaldosteronismo/terapia , Hipopotassemia/etiologia , Hipertensão/complicações , Hiperaldosteronismo/complicações , Aldosterona/uso terapêutico , Seguimentos , Adrenalectomia/efeitos adversos
4.
Hipertens Riesgo Vasc ; 40(4): 215-221, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37993292

RESUMO

Primary aldosteronism (PA) is the most common cause of secondary arterial hypertension. For unilateral cases, surgery offers the possibility of cure, with unilateral adrenalectomy being the treatment of choice, whereas bilateral forms of PA are treated mainly with mineralocorticoid receptor antagonists (MRA). The goals of treatment for PA due to either unilateral or bilateral adrenal disease include reversal of the adverse cardiovascular effects of hyperaldosteronism, normalization of serum potassium in patients with hypokalemia, and normalization of blood pressure. The Primary Aldosteronism Surgery Outcome group (PASO) published a study defining clinical and biochemical outcomes based on blood pressure and correction of hypokalemia and aldosterone to renin ratio (ARR) levels for patients undergoing total unilateral adrenalectomy for unilateral PA. In this review, we provide several practical recommendations for the medical and surgical management and follow-up of patients with PA.


Assuntos
Hiperaldosteronismo , Hipertensão , Hipopotassemia , Humanos , Aldosterona/uso terapêutico , Hipopotassemia/etiologia , Seguimentos , Hiperaldosteronismo/terapia , Hiperaldosteronismo/complicações , Hipertensão/terapia , Hipertensão/complicações , Adrenalectomia/efeitos adversos
5.
Arch Soc Esp Oftalmol (Engl Ed) ; 98(12): 673-679, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37866435

RESUMO

OBJECTIVE: To estimate the epidemiology of Leber's optic neuropathy (NOHL) in the Region of Madrid. MATERIAL AND METHODS: The neuro-ophthalmologists who work at public hospitals of the CAM were interviewed by telephone. They were asked about the number of patients with NOHL that they had diagnosed during the time that they had been responsible for the neuro-ophthalmology department of that public hospital. The time worked and the population attended by the hospital were used to calculate the number of inhabitant-years in follow-up by each center during the corresponding period. The basic information of each case (date of birth, mutation, date of visual loss) was registered to avoid duplications. RESULTS: Our work estimates a global incidence of 2.34 cases for 10,000,000 inhabitants-year and a prevalence estimated from incidence of one case for each 106.682 inhabitants. This prevalence was very similar in all the studied areas and considerably lower than that reported by other studies. CONCLUSION: This work constitutes the first approach to the epidemiology of this disease in Spain. The prevalence of LHON in the region of Madrid, is probably lower than that reported in the literature in other regions. The prevalence and the incidence were homogeneously low in the 26 studied areas.


Assuntos
Oftalmologistas , Atrofia Óptica Hereditária de Leber , Humanos , Atrofia Óptica Hereditária de Leber/diagnóstico , Atrofia Óptica Hereditária de Leber/genética , Mutação , Cegueira , Espanha/epidemiologia
6.
Rev. peru. biol. (Impr.) ; 30(4)oct. 2023.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1530338

RESUMO

Registramos la presencia de Dressleria dodsoniana y Galeandra minax en Caquetá, Colombia, basados en dos poblaciones encontradas en la vertiente oriental de la Cordillera Oriental de los Andes y en el piedemonte Andino-Amazónico, respectivamente. Estas especies han sido previamente reportadas para el país en documentos impresos y en bases de datos, pero, sin la mención de ejemplares de herbario, siendo los registros fotográficos la única evidencia para su registro. Nuestros reportes resaltan la necesidad de confirmar la identidad y ocurrencia de las especies con la inclusión de colecciones botánicas en herbarios. Categorizamos ambas especies para Colombia como Críticamente Amenazadas (CR), debido principalmente, al deterioro de su hábitat y por el conocimiento de una única población registrada.


We document the presence of Dressleria dodsoniana and Galeandra minax in Caquetá, Colombia, based on two populations found in the eastern slope of the Eastern Cordillera of the Andes and in the Andean-Amazonian Piedmont, respectively. These species were previously reported in the country through printed documents and databases, but without herbarium specimens mentioned, with photographic records being the only evidence for their record. Our reports emphasize the need to confirm the identity and occurrence of the species by including botanical collections in herbaria. Both species are categorized as Critically Endangered (CR) in Colombia, primarily due to habitat deterioration and the knowledge of a single recorded population.

8.
Phys Rev E ; 104(4-1): 044209, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34781469

RESUMO

Particle-type solutions are observed in out-of-equilibrium systems. These states can be motionless, oscillatory, or propagative depending on the injection and dissipation of energy. We investigate a family of localized standing waves based on a liquid-crystal light valve with spatiotemporal modulated optical feedback. These states are nonlinear waves in which energy concentrates in a localized and oscillatory manner. The organization of the family of solutions is characterized as a function of the applied voltage. Close to the reorientation transition, an amplitude equation allows us to elucidate the origin of these localized states and establish their bifurcation diagram. Theoretical findings are in qualitative agreement with experimental observations. Our results open the possibility of manipulating localized states induced by light, which can be used to expand and improve the storage and manipulation of information.

9.
Cells ; 10(9)2021 09 04.
Artigo em Inglês | MEDLINE | ID: mdl-34571962

RESUMO

Von Hippel-Lindau disease (VHL) is a rare hereditary disease characterized by the predisposal to develop different types of highly vascularized tumors. VHL patients carry a VHL mutation that causes partial lack of functional VHL protein (pVHL) in all cells, and a total lack thereof in cells harboring a second hit mutation. Absence of pVHL generates a prolonged state of pseudo-hypoxia in the cell due to accumulation of hypoxia inducible factor, an important transcription factor regulating pro-tumorigenic genes. The work here presented focuses on characterizing the endothelium of VHL patients, by means of blood outgrowth endothelial cells (BOECs). Transcriptome analysis of VHL-derived BOECs, further supported by in vitro assays, shows that these cells are at a disadvantage, as evidenced by loss of cell adhesion capacity, angiogenesis defects, and immune response and oxidative metabolic gene downregulation, which induce oxidative stress. These results suggest that the endothelium of VHL patients is functionally compromised and more susceptible to tumor development. These findings contribute to shedding light on the vascular landscape of VHL patients preceding the second hit mutation in the VHL gene. This knowledge could be useful in searching for new therapies for these patients and other vascular diseases.


Assuntos
Células Endoteliais/patologia , Neovascularização Patológica , Doença de von Hippel-Lindau/patologia , Estudos de Casos e Controles , Adesão Celular , Movimento Celular , Proliferação de Células , Células Cultivadas , Células Endoteliais/imunologia , Células Endoteliais/metabolismo , Regulação da Expressão Gênica , Predisposição Genética para Doença , Humanos , Mutação , Neovascularização Patológica/genética , Estresse Oxidativo , Fenótipo , Transdução de Sinais , Transcriptoma , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/genética , Doença de von Hippel-Lindau/imunologia , Doença de von Hippel-Lindau/metabolismo
12.
Urol J ; 18(3): 355-357, 2021 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-33931847

RESUMO

INTRODUCTION: The SARS-CoV-2 infection has resulted in an unprecedented pandemic. Patients undergoing surgery are a group at risk of exposure. Also, patients with ongoing infection undergoing surgery may be more susceptible to developing complications. There is no significant data on surgical safety in the pandemic period. MATERIAL AND METHODS: Observational study based in a prospective database of urological oncological surgery. Data were obtained during the 2020 mandatory confinement period compared to the same period in 2019. The records were reviewed 45 days post-surgery. The objective was to compare surgical morbidity and mortality during the pandemic versus an average year in urological cancer surgery. RESULTS: During confinement period (2020), 85 patients underwent uro-oncology surgery, while in 2019, during the same period, 165. The Clavien-Dindo morbidity ≥3 in 2020 was 2.3% (n=2), and in 2019, it reached 6% (n=10). In 2020, 9 patients were readmitted (10.5%). One patient (1.1%) was re-interfered, with a perioperative mortality of 1.1%. In 2019, 21 patients (12.7%) were readmitted. Seventeen patients (10.3%) were re-interfered, with a perioperative mortality of 1.8%. The median number of days hospitalized was 2 (IQR=2) in 2020 and 3 (IQR=3) in 2019. No significant differences were found in population or morbimortality, except for reoperation in a normal year. CONCLUSION: Postoperative morbidity and mortality reported are lower than those shown in the literature concerning COVID-19 and similar to that historically reported by our centers. This study suggests that it is safe to operate patients with urological cancer following the appropriate protocols during a pandemic.


Assuntos
COVID-19/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Neoplasias Urológicas/cirurgia , Procedimentos Cirúrgicos Urológicos/mortalidade , COVID-19/prevenção & controle , Chile/epidemiologia , Humanos , Incidência , Reoperação/estatística & dados numéricos , SARS-CoV-2 , Procedimentos Cirúrgicos Urológicos/estatística & dados numéricos
13.
J Investig Allergol Clin Immunol ; 31(4): 292-307, 2021 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-33461956

RESUMO

The consumption of quinolones as first-line treatment has increased in recent years, leading to an increase in the incidence of hypersensitivity reactions (HSRs) to this antibiotic group. Both diagnosis and management of HSRs to quinolones are complex and controversial. These practical guidelines aim to provide recommendations for effective clinical practice. The recommendations were drafted by an expert panel that reviewed the literature regarding HSRs to quinolones and analyzed controversies in this area. Most HSRs to quinolones are immediate and severe. The risk for HSRs is higher in patients who report allergy to ß-lactams, moxifloxacininduced anaphylaxis, and immediate reactions than in patients who report reactions to quinolones inducing other symptoms. The usefulness of skin tests in diagnosing HSRs to quinolones is controversial, with sensitivity and specificity varying between studies. Most in vitro tests are produced in-house, with no validated commercial options. The basophil activation test has proven useful for diagnosing immediate reactions, albeit with diverse results regarding sensitivity. Drug provocation testing is currently the gold standard for confirming or excluding the diagnosis and for finding safe alternatives, although it is contraindicated in patients with severe reactions. Cross-reactivity between quinolones has proven controversial in several studies, with the lowest cross-reactivity reported for levofloxacin. Desensitization may be considered in allergy to quinolones when no other alternatives are available.


Assuntos
Alérgenos/efeitos adversos , Antialérgicos/efeitos adversos , Dessensibilização Imunológica/métodos , Hipersensibilidade a Drogas/diagnóstico , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/diagnóstico , Quinolonas/efeitos adversos , Alérgenos/imunologia , Antialérgicos/uso terapêutico , Teste de Degranulação de Basófilos , Reações Cruzadas , Hipersensibilidade a Drogas/tratamento farmacológico , Hipersensibilidade a Drogas/etiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/tratamento farmacológico , Humanos , Guias de Prática Clínica como Assunto , Quinolonas/uso terapêutico , Testes Cutâneos
14.
Acta ortop. mex ; 34(6): 365-370, nov.-dic. 2020. tab
Artigo em Inglês | LILACS | ID: biblio-1383450

RESUMO

Abstract: Introduction: Glenoid track is used to assess the engagement of Hill-Sachs lesions. The objective of this study was to identify if off-track glenoid track was a risk factor for recurrence of anterior glenohumeral instability in postoperative patients with arthroscopic anterior labrum repair. Material and methods: Sixty patients with glenohumeral instability who underwent arthroscopic repair of the anterior labrum were studied. Study group (patients with recurrence of postoperative dislocation) and control (no dislocation). Radiographic measurements were made on magnetic resonance imaging and computed tomography. Measurements of glenoid diameter, glenoid bone loss, as well as the presence and size of Hill-Sachs lesions were obtained. Later they were classified as «on-track¼ or «off-track¼. Results: Seven (11.67%) patients suffered recurrence, of which six (10%) were carriers of an off-track injury and 1 (1.67%) on-Track. 53 (88.33%) patients did not experience recurrence, of which 11 (18.33%) were carriers of an off-track injury and 42 (70%) on track. A 23.47 increased risk of recurrence of instability was interpreted in patients with «off-track¼ lesions compared to patients with «On track¼ lesions. Conclusions: Off-track injuries were a risk factor for recurrence of instability in patients who underwent Bankart-type arthroscopic repair. This allows us to recommend that the presence of lesions be routinely studied and classified as «on-track¼ or «off-track¼ to provide a better therapeutic approach.


Resumen: Introducción: El encarrilamiento glenoideo se emplea para valorar el enganche de lesiones Hill-Sachs. El objetivo de este estudio fue identificar si el encarrilamiento glenoideo off-track fue un factor de riesgo de recidiva de inestabilidad glenohumeral anterior en pacientes postoperados de reparación de labrum anterior por vía artroscópica. Material y métodos: Se estudiaron 60 pacientes sometidos a reparación artroscópica del labrum anterior. Grupo de estudio (pacientes con recidiva de luxación postoperatoria) y control (sin luxación). Las mediciones radiográficas se realizaron en resonancia magnética y en tomografía axial computarizada. Se obtuvieron mediciones del diámetro glenoideo, pérdida ósea glenoidea así como la presencia y tamaño de lesiones de Hill-Sachs. Posteriormente se clasificaron como on-track u off-track. Resultados: Siete (11.67%) pacientes sufrieron recidiva, de los cuales seis (10%) eran portadores de lesión off-track y uno (1.67%) on-track. 53 (88.33%) pacientes sin recidiva, de los cuales 11 (18.33%) eran portadores de lesión off-track y 42 (70%) on-track. Se interpretó un aumento de riesgo de recidiva de inestabilidad de 23.47 en los pacientes portadores de lesión de tipo off-track en comparación con los pacientes portadores de lesiones on-track. Conclusiones: Las lesiones off-track fueron un factor de riesgo de recidiva de inestabilidad en los pacientes a quienes se realizó reparación artroscópica tipo Bankart, lo cual nos permite recomendar que de forma rutinaria se estudie la presencia de lesiones y clasificarlas como on-track u off-track para brindar un mejor abordaje terapéutico.


Assuntos
Humanos , Luxação do Ombro , Articulação do Ombro , Lesões de Bankart , Instabilidade Articular , Artroscopia , Recidiva , Luxação do Ombro/cirurgia , Luxação do Ombro/diagnóstico por imagem , Articulação do Ombro/cirurgia , Articulação do Ombro/diagnóstico por imagem , Fatores de Risco , Instabilidade Articular/cirurgia , Instabilidade Articular/etiologia , Instabilidade Articular/diagnóstico por imagem
15.
Rev. cir. (Impr.) ; 72(5): 449-454, oct. 2020. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-1138737

RESUMO

Resumen El nuevo coronavirus (SARS-CoV-2), causante de la enfermedad COVID-19, es una pandemia con alta morbimortalidad mundial. Uno de los factores más importantes es su alta tasa de transmisibilidad por gotitas, aerosoles y fómites. La tendencia actual es el aumento progresivo de pacientes contagiados en nuestro país y, por consiguiente, de mayor cantidad de enfermos en unidades de cuidados intensivos (UCI) con uso de ventilación mecánica invasiva (VMI). La traqueostomía (TQT) se utiliza en pacientes críticos para facilitar la VMI a largo plazo y el destete de la ventilación. Una TQT temprana, definida como la realizada en los primeros 7 días después de la intubación orotraqueal (IOT), se asocia a una reducción en el tiempo de la VMI, mortalidad y permanencia en UCI. La TQT es una técnica quirúrgica con alta generación de aerosoles la cual implica medidas especiales frente a la realización de ésta en pacientes con COVID-19. Para limitar el contagio del SARS-CoV-2 en los trabajadores de salud es necesario el uso de elementos de protección personal (EPP) adecuados según la intervención a realizar. Es por esta razón que en el presente artículo se propone utilizar el acrónimo C-O-RO-NA para no olvidar elementos y pasos fundamentales al momento de realizar esta técnica, minimizando de esta manera el contagio en los trabajadores de salud.


The new coronavirus (SARS-CoV-2), which causes COVID-19 disease, is a high mortality pandemic illness. One of the most important factors is its high rate of transmissibility by respiratory droplets, aerosols and fomites. The reigning trend of this disease is progressively increasing infected patients in our country, therefore, more patients in intensive care units (ICU) with invasive mechanical ventilation (IMV). Tracheostomy (TQT) is used in critical patients to facilitate long-term IMV and ventilation weaning. An early TQT, defined as performed in the first 7 days after orotracheal intubation (IOT) is associated with a reduction IMV duration, mortality rate and length of stay in ICU. TQT is a surgical procedure which generates a huge amount of aerosols that need special measures to perform in COVID-19 patients. It is necessary to use appropriate personal protection elements (PPE) according to the intervention, limiting the spread of SARS-CoV-2 in health workers. It is for this reason that this article proposes to use the acronym C-O-RO-NA to remember fundamental elements and steps when performing this technique in order to minimize health workers infection.


Assuntos
Humanos , Pneumonia Viral/prevenção & controle , Traqueostomia/métodos , Infecções por Coronavirus/prevenção & controle , Procedimentos Cirúrgicos Operatórios/normas , Protocolos Clínicos , Pandemias , Equipamento de Proteção Individual/normas , Betacoronavirus
16.
J Clin Med ; 9(9)2020 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-32854260

RESUMO

Von Hippel-Lindau (VHL), is a rare autosomal dominant inherited cancer in which the lack of VHL protein triggers the development of multisystemic tumors such us retinal hemangioblastomas (HB), CNS-HB, and clear cell renal cell carcinoma (ccRCC). ccRCC ranks third in terms of incidence and first in cause of death. Standard systemic therapies for VHL-ccRCC have shown limited response, with recurrent surgeries being the only effective treatment. Targeting of ß2-adrenergic receptor (ADRB) has shown therapeutic antitumor benefits on VHL-retinal HB (clinical trial) and VHL-CNS HB (in vitro). Therefore, the in vitro and in vivo antitumor benefits of propranolol (ADRB-1,2 antagonist) and ICI-118,551 (ADRB-2 antagonist) on VHL-/- ccRCC primary cultures and 786-O tumor cell lines have been addressed. Propranolol and ICI-118,551 activated apoptosis inhibited gene and protein expression of HIF-2α, CAIX, and VEGF, and impaired partially the nuclear internalization of HIF-2α and NFĸB/p65. Moreover, propranolol and ICI-118,551 reduced tumor growth on two in vivo xenografts. Finally, ccRCC patients receiving propranolol as off-label treatment have shown a positive therapeutic response for two years on average. In summary, propranolol and ICI-118,551 have shown antitumor benefits in VHL-derived ccRCC, and since ccRCCs comprise 63% of the total RCCs, targeting ADRB2 becomes a promising drug for VHL and other non-VHL tumors.

17.
Orphanet J Rare Dis ; 15(1): 132, 2020 06 02.
Artigo em Inglês | MEDLINE | ID: mdl-32487141

RESUMO

Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprecedented case of a VHL carrier who remains healthy at 72. Under the course of this study, it was discovered that this patient carries a mutation for a second rare disease, Neuronal Ceroid Lipofuscinosis (NCL or CNL). We hypothesize that the CLN mutation she carries offers a protective effect, preventing tumor development in the cells potentially suffering a VHL second hit mutation. To test this hypothesis, we ran a series of molecular experiments and confirmed that cell viability of primary endothelial cells decreases upon CLN5 silencing. Our results further elucidate the cell biology implications of two rare diseases interacting.


Assuntos
Hemangioblastoma , Neoplasias , Doença de von Hippel-Lindau , Células Endoteliais , Feminino , Humanos , Proteínas de Membrana Lisossomal , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/genética
18.
J Clin Med ; 9(6)2020 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-32517280

RESUMO

The diagnosis of hereditary hemorrhagic telangiectasia (HHT) is based on the Curaçao criteria: epistaxis, telangiectases, arteriovenous malformations in internal organs, and family history. Genetically speaking, more than 90% of HHT patients show mutations in ENG or ACVRL1/ALK1 genes, both belonging to the TGF-ß/BMP9 signaling pathway. Despite clear knowledge of the symptoms and genes of the disease, we still lack a definite cure for HHT, having just palliative measures and pharmacological trials. Among the former, two strategies are: intervention at "ground zero" to minimize by iron and blood transfusions in order to counteract anemia. Among the later, along the last 15 years, three different strategies have been tested: (1) To favor coagulation with antifibrinolytic agents (tranexamic acid); (2) to increase transcription of ENG and ALK1 with specific estrogen-receptor modulators (bazedoxifene or raloxifene), antioxidants (N-acetylcysteine, resveratrol), or immunosuppressants (tacrolimus); and (3) to impair the abnormal angiogenic process with antibodies (bevacizumab) or blocking drugs like etamsylate, and propranolol. This manuscript reviews the main strategies and sums up the clinical trials developed with drugs alleviating HHT.

19.
Acta Ortop Mex ; 34(6): 365-370, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-34020515

RESUMO

INTRODUCTION: Glenoid track is used to assess the engagement of Hill-Sachs lesions. The objective of this study was to identify if off-track glenoid track was a risk factor for recurrence of anterior glenohumeral instability in postoperative patients with arthroscopic anterior labrum repair. MATERIAL AND METHODS: Sixty patients with glenohumeral instability who underwent arthroscopic repair of the anterior labrum were studied. Study group (patients with recurrence of postoperative dislocation) and control (no dislocation). Radiographic measurements were made on magnetic resonance imaging and computed tomography. Measurements of glenoid diameter, glenoid bone loss, as well as the presence and size of Hill-Sachs lesions were obtained. Later they were classified as "on-track" or "off-track". RESULTS: Seven (11.67%) patients suffered recurrence, of which six (10%) were carriers of an off-track injury and 1 (1.67%) on-Track. 53 (88.33%) patients did not experience recurrence, of which 11 (18.33%) were carriers of an off-track injury and 42 (70%) on track. A 23.47 increased risk of recurrence of instability was interpreted in patients with "off-track" lesions compared to patients with "On track" lesions. CONCLUSIONS: Off-track injuries were a risk factor for recurrence of instability in patients who underwent Bankart-type arthroscopic repair. This allows us to recommend that the presence of lesions be routinely studied and classified as "on-track" or "off-track" to provide a better therapeutic approach.


INTRODUCCIÓN: El encarrilamiento glenoideo se emplea para valorar el enganche de lesiones Hill-Sachs. El objetivo de este estudio fue identificar si el encarrilamiento glenoideo. MATERIAL Y MÉTODOS: off-track fue un factor de riesgo de recidiva de inestabilidad glenohumeral anterior en pacientes postoperados de reparación de labrum anterior por vía artroscópica. Se estudiaron 60 pacientes sometidos a reparación artroscópica del labrum anterior. Grupo de estudio (pacientes con recidiva de luxación postoperatoria) y control (sin luxación). Las mediciones radiográficas se realizaron en resonancia magnética y en tomografía axial computarizada. Se obtuvieron mediciones del diámetro glenoideo, pérdida ósea glenoidea así como la presencia y tamaño de lesiones de Hill-Sachs. Posteriormente se clasificaron como. RESULTADOS: on-track u off-track. Siete (11.67%) pacientes sufrieron recidiva, de los cuales seis (10%) eran portadores de lesión. CONCLUSIONES: off-track y uno (1.67%) on-track. 53 (88.33%) pacientes sin recidiva, de los cuales 11 (18.33%) eran portadores de lesión off-track y 42 (70%) on-track. Se interpretó un aumento de riesgo de recidiva de inestabilidad de 23.47 en los pacientes portadores de lesión de tipo off-track en comparación con los pacientes portadores de lesiones on-track. Las lesiones.


Assuntos
Lesões de Bankart , Instabilidade Articular , Luxação do Ombro , Articulação do Ombro , Artroscopia , Humanos , Instabilidade Articular/diagnóstico por imagem , Instabilidade Articular/etiologia , Instabilidade Articular/cirurgia , Recidiva , Fatores de Risco , Luxação do Ombro/diagnóstico por imagem , Luxação do Ombro/cirurgia , Articulação do Ombro/diagnóstico por imagem , Articulação do Ombro/cirurgia
20.
Rev. otorrinolaringol. cir. cabeza cuello ; 79(4): 442-447, dic. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1058721

RESUMO

RESUMEN La estenosis faríngea es una complicación muy poco frecuente de la adenoamigdalectomía. Consiste en un estrechamiento de la vía aerodigestiva superior secundaria a la adhesión parcial o total de las estructuras que componen la orofaringe producto de una disección extensa al realizar amigdalectomía. El objetivo de este trabajo es presentar tres casos clínicos tratamiento y correspondiente técnica quirúrgica. Se describen tres pacientes operados durante la edad preescolar de adenoamigdalectomía, que cursaron en el posoperatorio con estenosis faríngea. Todos presentaron roncopatía severa, respiración oral y resonancia hiponasal. La nasofibroscopía evidenció estrechez faríngea en distintos grados. A todos se les realizó resección del tejido cicatricial y faringoplastía con colgajo miomucoso y posterior rehabilitación con bulbo faríngeo. El uso de colgajos faríngeos posterior a la liberación de adherencias posadenoamigdalectomía permite aportar tejido sano a zonas cruentas, evitando la formación de nuevas adherencias y restituyendo la permeabilidad oronasal. El bulbo faríngeo es fundamental para mantener un apropiado lumen y manejo de la cicatrización en el posoperatorio. La técnica de colgajo faríngeo lateral, que interpone mucosa faríngea sana para la cobertura del lecho cruento, constituye una alternativa quirúrgica eficaz para resolver la estenosis faríngea posquirúrgica.


ABSTRACT Pharyngeal stenosis is a very rare complication of adenotonsillectomy. It is caused by a narrowing of the upper aerodigestive pathway secondary to the total or partial adhesion of the retropharyngeal structures as a result of extensive dissection during tonsillectomy. Our aim is to present three consecutive clinical cases of pharyngeal stenosis after adenotonsillectomy, discuss its treatment and corresponding surgical technique. We present three infants with adenotonsillectomy with postoperative pharyngeal stenosis. All had severe snoring, oral breathing and hyponasal resonance. The nasofibroscopy showed pharyngeal obliteration in several degrees. All patients underwent scar tissue resection and pharyngoplasty with myomucosal flap and subsequent use of pharyngeal bulb. The use of pharyngeal flaps after release of pharyngeal adhesions allows to provide healthy tissue to row areas, avoiding new postoperative adhesions and providing adequate oronasal permeability. The pharyngeal bulb is essential to maintain permeability and management of scarring in the postoperative period. The technique of lateral pharyngeal flap, which aims to interpose healthy pharyngeal mucosa to cover the bloody bed, is an effective therapeutic alternative to solve post-surgical pharyngeal stenosis.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/patologia , Adenoidectomia/efeitos adversos , Orofaringe/patologia , Complicações Pós-Operatórias/cirurgia , Constrição Patológica
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