Pulmonary arterio-venous malformation: a catastrophe

Pulmonary Arteriovenous Malformations (PAVM) are abnormal fistulous connections between a pulmonary artery and a pulmonary vein that generate a right-to-left shunt by avoiding the normal pulmonary capillary bed. We report an unusual case of a young female patient who presented to the department of Obstetrics and Gynaecology with Bleeding per vagina diagnosed as Failed intrauterine pregnancy; Unilateral pedal edema and Breathlessness. Pulmonary Thromboembolism was suspected and Computed Tomography pulmonary angiogram (CTPA) was advised for, which showed abnormal communication between dilated left main pulmonary artery and dilated tortuous superior pulmonary vein. Multiple adjacent solid and ground glass nodules were also noticed which were suggestive of initial telangiectatic state of PAVMs. Most of PAVMs are related to Hereditary Hemorrhagic Telangiectasia, whereas only 10 to 20% are isolated sporadic cases. Pregnancy has been considered as a precipitant factor for PAVMs in most of the cases, patients and pregnant women affected by PAVMs are asymptomatic, but when the clinical manifestations occur, they are often related to the right-to-left shunting and may include dyspnoea, hypoxia, and pulmonary hypertension. Moreover, presence of one or multiple PAVMs during pregnancy is associated with an increased risk of severe complications such as rupture, haemothorax, and hypovolemic shock. Hence this case reports highlights the necessity for the radiologists to think in terms of PAVM as a differential diagnosis beyond the suspicion of Pulmonary thromboembolism to look for any abnormal arteria venous communication while reporting CTPA in pregnant women with breathlessness and foresee the catastrophic complications in an already known case of PAVM during pregnancy. Also, the radiologists should identify subtle solid or ground-glass nodules adjacent to large PAVMS which are the initial telangiectatic stage of PAVMs.

Scleroderma and dental implications: a case series

Systemic sclerosis (SSC) is a rare, systemic autoimmune disease of unknown etiology, which is characterized by fibrosis of visceral organs, skin and blood vessels. This disorder can be localized or systemic. It is more common in women with estimated prevalence is 250 cases in a million. Oral manifestations include xerostomia, periodontitis, decayed tooth etc. Radiographically generalized loss of bone with resorption of the mandibular angle and coronoid process can be evident in patients with scleroderma. Pressure of fibrous mucocutaneous tissues is thought to be the cause of the resorption. Decreased number of wrinkles due to sclerosis and distinct facial features because of the atrophy of ala nasi are among common clinical characteristics of this condition. The aim of this case series is to present two female patients with scleroderma who presented with signs of oral manifestations along with resorption at the angle of mandible, as well as widening of the periodontal space.

Prevalence of hereditary hemorrhagic telangiectasia in a medical care program organization in Buenos Aires, Argentina / Prevalencia de telangiectasia hemorrágica hereditaria en un sistema privado de salud de Buenos Aires, Argentina

Abstract Introduction : Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia that might affect 1/5000-10 000 individuals worldwide. It is a rare and underdiagnosed condition. Population-based epidemiological studies are crucial for comprehending and quantifying the impact of this disease. We aim to estimate the prevalence in a Prepaid Health Care System of Buenos Aires, Argentina. Methods : A descriptive cross-sectional study was de signed, which included all patients over 18 years of age affiliated with the Hospital Italiano Medical Care Program (IHMCP), a prepaid health maintenance organization (HMO) of Buenos Aires. For case inclusion, individuals were required to have a clinical diagnosis of HHT. Case detection included the search in our Institutional Registry. The prevalence was calculated by dividing the number of cases of HHT by the total number of all active affiliates at January 2023. Age and gender specific prevalence rates were estimated. Results : 48 cases were reported. The prevalence was 3.2 in 10 000 (IC 95% 2.4-4.2). Specific prevalence in women was 3.9 in 10 000 (IC 95% 2.8-5.5) and in men 2.1 in 10 000 (IC 95% 1.2-3.6). The average age was 54.8 (19), 35 patients were women (72.9%) with an aver age age of 55 (19.9), and 55 (17.2) for men. The most common referrals were physicians (60.4%) followed by family history (18.7%). The 48 patients corresponded to 39 families. Discussion : The prevalence identified in our study is higher than the one documented in other studies.

Resumen Introducción : La telangiectasia hemorrágica heredita ria (HHT) es una displasia vascular que puede afectar a 1 de 5000 a 10 000 personas en el mundo. Es una afección rara y subdiagnosticada. Los estudios epidemiológicos son fundamentales para comprender y cuantificar el im pacto de esta enfermedad. Nuestro objetivo fue estimar la prevalencia en un Sistema Prepago de Atención de la Salud, en Buenos Aires, Argentina. Métodos : Estudio descriptivo transversal en pacientes mayores de 18 años afiliados al Programa de Atención Médica del Hospital Italiano en Buenos Aires (Plan de Sa lud). Para la inclusión de casos, se requería el diagnóstico de HHT. La detección de casos incluyó su búsqueda en nuestro Registro Institucional. La prevalencia se calculó dividiendo el número de casos por el número total de afiliados activos en enero de 2023. Se estimaron tasas específicas por edad y género. Resultados : Se reportaron 48 casos. La prevalencia fue de 3.2 por 10 000 personas (IC 95% 2.4-4.2). La específica en mujeres fue de 3.9 (IC 95% 2.8-5.5) y en hombres de 2.1 por 10 000 (IC 95% 1.2-3.6). La edad promedio fue de 55 años (19), con 35 pacientes mujeres (72.9%) con una edad promedio de 55 años (19.9) y 55 (17.2) para hom bres. La derivación más común fue de médicos (60.4%), seguidas por antecedentes familiares (18.7%). Los 48 pacientes correspondían a 39 familias. Discusión : La prevalencia identificada en nuestro es tudio es más alta que la documentada en otros estudios.

Un caso pediátrico de telangiectasia hemorrágica hereditaria (Síndrome de Rendu-Osler-Weber) con compromiso pulmonar / A pediatric case of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Syndrome) with pulmonary involvement

La telangiectasia hemorrágica hereditaria (HHT), o síndrome de Rendu-Osler-Weber, se considera dentro del grupo de las enfermedades raras, pues afecta a 1 de cada 3.000 a 8.000 individuos. Tiene un patrón de herencia autosómica dominante y la mayor parte de los casos se debe a una alteración en la codificación de los genes endoglina (ENG) y activina receptor-like kinase 1 (ALK1), dando origen a los tipos 1 y 2, respectivamente. Esta alteración genética se traduce en una displasia del endotelio de la pared vascular debido a haploinsuficiencia para endoglina y se manifiesta clínicamente con epistaxis a repetición, telangiectasias mucocutáneas y malformaciones arteriovenosas (MAV) viscerales. A continuación, se presenta el caso clínico de una paciente pediátrica de 11 años de edad que se manifestó por disnea e hipoxemia severa debido a múltiples fístulas arteriovenosas pulmonares.

Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is considered among rare diseases, as it affects 1 in every 3,000 to 8,000 individuals. It follows an autosomal dominant inheritance pattern, and most cases are due to alterations in the coding of the endoglin (ENG) and activin receptor-like kinase 1 (ALK1) genes, leading to types 1 and 2, respectively. This genetic alteration results in vascular endothelial dysplasia due to haploinsufficiency for endoglin and clinically manifests with recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations (AVMs). Herein, we present the clinical case of an 11-year-old pediatric patient who exhibited severe dyspnea and hypoxemia due to multiple pulmonary arteriovenous fistulas.

Influencing factors of telangiectasia secondary to diabetic retinopathy / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To investigate the influencing factors of abnormal telangiectasia secondary to diabetic retinopathy(DR).METHODS: Prospective studies. A total of 153 cases(240 eyes)with DR treated in our hospital from January 2021 to January 2023 were selected to analyze the risk factors of abnormal telangiectasia secondary to DR and its predictive efficacy.RESULTS: The patients were divided into dilated group(77 eyes of 40 cases)and non-dilated group(163 eyes of 113 cases)according to whether they had secondary abnormal telangiectasia. There were significant differences in diabetic macular edema, hard exudates grade and fasting blood glucose level between the two groups(P<0.05). Logistic regression analysis showed that diabetic macular edema, high hard exudates grade and high blood glucose level were the risk factors for abnormal telangiectasia secondary to DR(P<0.05).CONCLUSION: The occurrence of telangiectasia secondary to DR may be related to diabetic macular edema, grade 3 hard exudates and high blood glucose level.

Malformações arteriovenosas pulmonares na síndrome de Rendu-Osler-Weber / Pulmonary arteriovenous malformations in Rendu-Osler-Weber syndrome

Resumo A síndrome de Rendu-Osler-Weber, também conhecida como telangiectasia hemorrágica hereditária, é uma doença hereditária autossômica dominante. Ela é caracterizada pela presença de múltiplas malformações arteriovenosas e telangiectasias. Este artigo relata dois casos de pacientes com síndrome de Rendu-Osler-Weber que apresentaram malformações arteriovenosas pulmonares e foram submetidos a tratamento endovascular com sucesso. Uma breve revisão da literatura mostra que até 50% dos pacientes com a síndrome têm malformações arteriovenosas pulmonares e geralmente há um histórico familiar positivo nesses pacientes. Em 30% dos casos, elas são múltiplas e estão associadas a complicações mais graves da doença. A maioria dos pacientes é assintomática, mesmo na presença de malformações arteriovenosas com shunt direito-esquerdo. Quando esses shunts excedem 25% do volume total de sangue, podem surgir dispneia, cianose, baqueteamento digital e sopros extracardíacos. O tratamento endovascular oferece segurança e controle das complicações da telangiectasia hemorrágica hereditária, sendo atualmente o tratamento de escolha para essas lesões.

Abstract Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia, is an autosomal dominant hereditary disorder. It is characterized by presence of multiple arteriovenous malformations (AVMs) and telangiectasias. This article reports two cases of patients with Rendu-Osler-Weber syndrome who had pulmonary AVMs and underwent successful endovascular treatment. A brief review of the literature shows that up to 50% of patients with the syndrome have pulmonary AVMs and there is usually a positive family history in these patients. These pulmonary AVMs are multiple in 30% of cases and are associated with the most severe disease complications. Most patients are asymptomatic, even in the presence of AVMs with right-left shunts. When these shunts exceed 25% of the total blood volume, dyspnea, cyanosis, digital clubbing, and extracardiac murmurs may occur. Endovascular treatment is safe and offers control of complications from hereditary hemorrhagic telangiectasia and is currently the treatment of choice for these lesions.

Dexamethasone intravitreal implant as an adjuvant treatment for pediatric patients with Coats' disease / Implante intravítreo de dexametasona como tratamento adjuvante em pacientes pediátricos com doença de Coats

ABSTRACT We report two cases of stage 3A unilateral Coats' disease in pediatric patients. In both cases, disease control was achieved using a dexamethasone intravitreal implant in addition to other treatments. The treatment improved visual acuity in one patient and prevented the worsening of the decline in visual acuity in the other patient during follow-up periods of 7 and 3 years, respectively. One of the patients presented an increase in intraocular pressure, which was controlled with topical antiglaucoma medication, but developed a cataract that required surgery. In conclusion, dexamethasone intravitreal implant may be a useful adjuvant treatment to consider in some pediatric cases with Coats' disease.

RESUMO Relatamos dois casos de doença de Coats em estágio 3A unilateral em pacientes pediátricos. Em ambos os casos, o controle da doença foi obtido com implante intravítreo de dexametasona, além de outros tratamentos, com melhora da acuidade visual em um caso e sem piora da visão no outro, durante um período de acompanhamento de 7 e 3 anos. Um dos casos apresentou elevação da pressão intraocular controlada com medicação antiglaucoma tópica e desenvolveu catarata que exigiu cirurgia. Em conclusão, o implante intravítreo de dexametasona pode ser um tratamento adjuvante útil a ser considerado em alguns casos pediátricos com doença de Coats.

Case report of ataxia telangiectasia

Ataxia telangiectasia is rare inherited disorder characterized by progressive, neurodegenerative, variable immunodeficiency, celebral ataxia, ocular and cutaneous telangiectasia. They are prone for sinopulmonary infection also at risk of cancer development. Hallmark of disease is ataxia and telangiectasia. Incidence is 1 in 1,00,000 live births. 10-year-old presented to us with chief complaint of not able to Maintain balance and walk steady since 5 years of age. on examination bulbar telangiectasia was present. Also, dysdiadokinesia, past pointing, intention tremor was present. Magnetic resonance imaging (MRI) of the brain was done. Alpha fetoprotein was more than 1000. Vitamin E with balance exercise as supportive treatment starred. Ataxia begin during infancy when child start to walk, 2nd most hallmark of disease. In bulbar telangiectasia, average life span is 25-year-old. It is a multisystem genetic disorder. Death occurs due to cancer and infection. Counseling plays an important role as there is no cure for disease.

Cáncer de mama y mutación del gen ataxia telangiectasia: reporte de caso

Entre las mujeres, el cáncer de mama es el más frecuente en el mundo, con el 25,7 %, lo cual hace que sea un tema de interés en salud pública. El cáncer de mama es una enfermedad genética compleja, heterogénea y, en la gran mayoría de los casos, de etiología desconocida. Alrededor del 7 % de los casos de cáncer de mama en la población general presentan alteraciones en un gen de susceptibilidad de herencia mendeliana. La mutación del gen de ataxia telangiectasia (ATM) se encuentra en menos del 1 % de la población general, y los estudios de asociación con controles han demostrado que estos alelos se caracterizan por conferir un riesgo moderado (RR: 2‐4) de padecer cáncer hereditario. Las mutaciones en ATM cosegregan de manera incompleta la enfermedad, y se estima que un 15 % de las portadoras de mutación en este gen desarrollarán el cáncer. La penetrancia incompleta de ATM, y otros genes de riesgo moderado, apoya que estos actúen siguiendo un modelo poligénico de susceptibilidad al cáncer. Se reporta el caso de una mujer de 35 años, con diagnóstico de carcinoma de mama bilateral metacrónico estadio clínico IIIB cT4b N1 M0 mama izquierda y estadio clínico I cT1c N0 mama derecha, con subtipo intrínseco luminal B y sobreexpresión HER2, y con la variante patogénica del gen ATM c.7913 G>A, p. Trp2638*. La paciente fue tratada con quimioterapia neoadyuvante, seguida de mastectomía, ganglio centinela y radioterapia. El objetivo es describir las características clínico‐patológicas y la asociación del cáncer de mama con mutaciones de genes de riesgo moderado.

Among women, breast cancer is the most common cancer in the world, accounting for 25.7 % of all cancers and thus making it a topic of interest in public health. Breast cancer is a complex, heterogeneous genetic disease and, in the vast majority of cases, of unknown etiology. Around 7 % of breast cancer cases in the general population present a susceptibility gene mutation of Mendelian inheritance. The ataxia telangiectasia mutated (ATM) gene mutation is found in less than 1 % of the general population, and association studies conducted with controls have shown that these alleles are characterized by a moderate risk (RR: 2 ‐ 4) for hereditary cancer. Mutations in ATM incompletely cosegregate the disease, with an estimated 15 % of mutation carriers in this gene developing cancer. The incomplete penetrance of ATM, as well as other moderate‐risk genes, supports that they follow a polygenic model of cancer susceptibility. We report the case of a 35‐year‐old woman diagnosed with metachronous bilateral breast carcinoma-T4b N1 M0 stage IIIB left breast and T1c N0 stage I right breast, intrinsic luminal B subtype, HER2 overexpression and pathogenic variant of ATM gene c.7913 G>A, p. Trp2638*-who was treated with neoadjuvant chemotherapy, followed by mastectomy, sentinel node biopsy and radiotherapy. The objective of this case report is to describe the clinicopathological characteristics of breast cancer and its association with moderate‐risk gene mutations.

Ataxia-telangiectasia: una revisión desde la etiopatogenia al manejo actual con descripción de casos reportados en Perú / Ataxia telangiectasia: A review from etiopathogenesis to current management with a description of reported cases in Peru

La Ataxia-Telangiectasia (AT) es una rara enfermedad de herencia autosómica recesiva y de afección multisistémica, caracterizada por ataxia progresiva, inmunodeficiencia variable con infecciones recurrentes, riesgo incrementado de neoplasias con o sin telangiectasias óculo-cutáneas. La AT es causada por variantes patogénicas bialélicas en el gen ATM. Su diagnóstico se basa en la sospecha de un cuadro clínico compatible, niveles elevados de alfafetoproteína, atrofia cerebelosa y estudios genéticos. No existe tratamiento curativo de AT y su manejo se basa en medidas de soporte y prevención de complicaciones y asesoramiento genético. En esta revisión, actualizamos la epidemiología, manifestaciones clínicas, diagnóstico y tratamiento de AT incluyendo una búsqueda de casos publicados en el Perú.

Ataxia-Telangiectasia (AT) is a rare autosomal recessive disease with multisystemic involvement, characterized by slowly progressive ataxia, variable immunodeficiency with recurrent infections, increased risk of neoplasms with or without oculocutaneous telangiectasias. AT is caused by biallelic pathogenic variants within the ATM gene. Its diagnosis is based on suspicion of a compatible clinical symptomatology, increased levels of alpha-fetoprotein, cerebellar atrophy, and genetic testing. There is no curative treatment for AT and its management is based on supportive and preventive measures of eventual complications and genetic counseling. This review updates the epidemiology, clinical manifestations, diagnosis, and treatment of AT, including a search for cases published in Peru.

Virtual screening of potential ATR kinase inhibitors based on machine learning and molecular docking / 中国药科大学学报

@#Screening potential active compounds from molecular libraries is a common method for drug discovery.However, with the continuous exploration of chemical space, there are already compound libraries with more than billions of molecules, so molecular docking is no longer enough to quickly screen specific target inhibitors from the ultra-large compound libraries.This study proposes a method for screening potential active compounds, which involves filtering and selecting compounds from a candidate compound library containing over 5.5 billion molecules through a series of steps, including calculating physical and chemical property similarities, constructing machine learning prediction models, and molecular docking.In the end, 51 compounds with potential ataxia telangiectasia-mutated and rad3-related (ATR) inhibitory activity were obtained.This method is effective for rapidly screening novel potential active compounds from large compound libraries.

Telangiectasia macularis eruptiva perstans treated with narrow-band UVB phototherapy and heliotherapy during the COVID-19 pandemic

@#Telangiectasia macularis eruptiva perstans (TMEP) is a rare disease, previously classified as a variant of cutaneous mastocytosis. While no gold standard of treatment exists, several treatments have been studied. We report a case of a 63-year-old woman who presented with long-standing asymptomatic telangiectatic macules beginning on the upper chest, back, and bilateral arms, with occasional pruritus and no other systemic symptoms. Skin biopsy, along with Giemsa stain, revealed findings consistent with TMEP. The patient underwent testing for serum tryptase level, which was within normal limits. The patient was started on topical steroids for two weeks and antihistamine therapy, with a noted decrease in pruritus but no change in cutaneous lesions. She was then advised to start phototherapy, and subsequently underwent a total of five sessions of narrow-band ultraviolet B phototherapy, after which she noted lightening of the lesions. Due to the COVID pandemic, the patient was shifted to heliotherapy with continued lightening of lesions after two months of thrice weekly sessions. This rare case is supportive of narrow-band ultraviolet B phototherapy and heliotherapy as promising treatment options for cases of TMEP.

Update on pulmonary arteriovenous malformations / Atualização sobre malformações arteriovenosas pulmonares

ABSTRACT This review aimed to provide an overview of pulmonary arteriovenous malformations, including the major clinical and radiological presentations, investigation, and treatment algorithm of the condition. The primary etiology of pulmonary arteriovenous malformations is hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, with mutations in the ENG gene on chromosome 9 (HHT type 1) or in the ACVRL1/ALK1 complex (HHT type 2). Epistaxis should always be evaluated when repeated, when associated with anemia, and in some cases of hypoxemia. In the investigation, contrast echocardiography and chest CT are essential for evaluating this condition. Embolization is the best treatment choice, especially for correction in cases of hypoxemia or to avoid systemic infections. Finally, disease management was addressed in special conditions such as pregnancy. CT follow-up should be performed every 3-5 years, depending on the size of the afferent and efferent vessels, and antibiotic prophylactic care should always be oriented. Ultimately, knowledge of the disease by health professionals is a crucial point for the early diagnosis of these patients in clinical practice, which can potentially modify the natural course of the disease.

RESUMO Esta revisão teve como objetivo fornecer uma visão geral das malformações arteriovenosas pulmonares, incluindo as principais apresentações clínicas e radiológicas, investigação e algoritmo de tratamento da condição. A principal etiologia das malformações arteriovenosas pulmonares é a telangiectasia hemorrágica hereditária (THH), também conhecida como síndrome de Rendu-Osler-Weber, com mutações no gene ENG no cromossomo 9 (THH tipo 1) ou no complexo ACVRL1/ALK1 (THH tipo 2). A epistaxe sempre deve ser avaliada quando repetida, quando associada à anemia e em alguns casos de hipoxemia. Na investigação, a ecocardiografia e TC de tórax com contraste são essenciais para avaliar essa condição. A embolização é a melhor escolha terapêutica, especialmente para correção em casos de hipoxemia ou para evitar infecções sistêmicas. Por fim, o manejo da doença foi abordado em condições especiais, como a gravidez. O acompanhamento por TC deve ser feito a cada 3-5 anos, dependendo do tamanho dos vasos aferentes e eferentes, e a antibioticoprofilaxia deve sempre ser orientada. Em última análise, o conhecimento da doença pelos profissionais de saúde é um ponto crucial para o diagnóstico precoce desses pacientes na prática clínica, o que pode potencialmente modificar o curso natural da doença.

Cirugía por radiofrecuencia una alternativa terapéutica en la Insuficiencia Venosa Crónica / Radiofrequency surgery a therapeutic alternative in Chronic Venous Insufficiency / Cirurgia de Radiofrequência uma alternativa terapêutica na Insuficiência Venosa Crônica

La insuficiencia venosa crónica es una patología caracterizada por dificultar el retorno venoso hacia el corazón, se estima que el 90% de la población, padecerá de esta patología en algún momento de la vida, no obstante, su impacto toca la esfera socioeconómica, laboral e inclusive estética del paciente. Clínicamente se manifiesta con telangiectasias, venas varicosas e inclusive úlceras venosas por estasis, el cuadro se acompaña de dolor, cansancio, sensación de pesadez a nivel de miembros inferiores. Objetivo. Establecer los beneficios de la ablación por radiofrecuencia en el tratamiento de la insuficiencia venosa crónica estadificada de acuerdo con la CEAP (Clasificación clínica, etiológica, anatómica, fisiopatológica) en el Hospital Instituto Ecuatoriano de Seguridad Social en la ciudad de Riobamba, en el período 2018-2020. Materiales y Métodos. Se presenta un estudio retrospectivo de corte transversal, realizado en 75 pacientes intervenidos con radiofrecuencia en el Instituto Ecuatoriano de Seguridad Social (IESS) Riobamba, en el período 2018-2020 quienes voluntariamente decidieron participar en el estudio. Resultados. Se obtuvo que esta patología se presenta en un 68% en el sexo femenino y en un 32% en el sexo masculino, de la población total el 60% presentó sobrepeso y el 40% presentó obesidad, mediante la clasificación CEAP se categorizó en C3 al 58.7 % seguido de C2 al 32%, los pacientes de esta última categoría mostraron mejoría dentro de los 6 meses posteriores a la intervención. Conclusiones. La ablación por radiofrecuencia es una técnica quirúrgica efectiva en el tratamiento de los troncos safenos insuficientes, con excelentes resultados postquirúrgicos y en la calidad de vida del paciente.

Chronic venous insufficiency is a pathology characterized by hindering venous return to the heart, it is estimated that 90% of the population will suffer from this pathology at some point in life, however, its impact touches the socioeconomic, labor and even aesthetic sphere of the patient. Clinically it manifests with telangiectasias, varicose veins and even venous stasis ulcers, the picture is accompanied by pain, fatigue, feeling of heaviness in the lower limbs. Objective. To establish the benefits of radiofrequency ablation in the treatment of chronic venous insufficiency staged according to the CEAP (Clinical, etiological, anatomical, pathophysiological classification) in the Hospital Instituto Ecuatoriano de Seguridad Social in the city of Riobamba, in the period 2018-2020. Materials and Methods. A retrospective cross-sectional study is presented, performed in 75 patients intervened with radiofrequency at the Instituto Ecuatoriano de Seguridad Social (IESS) Riobamba, in the period 2018-2020 who voluntarily decided to participate in the study. Results. It was obtained that this pathology is presented in 68% in the female sex and 32% in the male sex, of the total population 60% presented overweight and 40% presented obesity, by CEAP classification was categorized in C3 to 58.7% followed by C2 to 32%, the patients of this last category showed improvement within 6 months after the intervention. Conclusions. Radiofrequency ablation is an effective surgical technique in the treatment of insufficient saphenous trunks, with excellent post-surgical results and in the patient's quality of life.

A insuficiência venosa crônica é uma patologia caracterizada pela dificuldade de retorno venoso ao coração. Estima-se que 90% da população sofrerá desta patologia em algum momento de suas vidas; entretanto, seu impacto afeta a esfera sócio-econômica, ocupacional e até estética do paciente. Clinicamente, manifesta-se com telangiectasias, varizes e até mesmo úlceras de estase venosa, acompanhadas de dor, cansaço e uma sensação de peso nos membros inferiores. Objetivo. Estabelecer os benefícios da ablação por radiofreqüência no tratamento da insuficiência venosa crônica encenada de acordo com a CEAP (classificação clínica, etiológica, anatômica, fisiopatológica) no Hospital Instituto Ecuatoriano de Seguridad Social na cidade de Riobamba, no período de 2018-2020. Materiais e métodos. É apresentado um estudo transversal retrospectivo, realizado em 75 pacientes que intervieram com radiofreqüência no Instituto Equatoriano de Seguridade Social (IESS) Riobamba, no período de 2018-2020, que voluntariamente decidiram participar do estudo. Resultados. Obteve-se que esta patologia ocorre em 68% no sexo feminino e 32% no sexo masculino, da população total 60% apresentava sobrepeso e 40% apresentava obesidade, pela classificação CEAP foi categorizada em C3 a 58,7% seguido por C2 a 32%, os pacientes desta última categoria apresentaram melhora em 6 meses após a intervenção. Conclusões. A ablação por radiofrequência é uma técnica cirúrgica eficaz no tratamento de troncos de safena insuficientes, com excelentes resultados pós-cirúrgicos e na qualidade de vida do paciente.

Cirugía de Young para el tratamiento quirúrgico de la epistaxis en telangiectasia hemorrágica hereditaria: reporte de un caso y revisión de la literatura / Young's procedure for surgical treatment of epistaxis in hereditary hemorrhagic telangiectasia: A case report and literature review

La telangiectasia hemorrágica hereditaria (THH) es una displasia vascular multisistémica, de herencia autosómica dominante, caracterizada por el desarrollo de telangiectasias mucocutáneas y malformaciones arteriovenosas viscerales. El diagnóstico se realiza mediante los criterios de Curasao publicados en el año 2000 y su manejo requiere de un equipo multidisciplinario donde el rol del otorrinolaringólogo(a) es fundamental, puesto que la epistaxis se presenta en un 90%-95% de los pacientes siendo una de las primeras manifestaciones clínicas de la enfermedad y pudiendo amenazar la vida del paciente. En la literatura se describen múltiples alternativas de tratamiento médico y quirúrgico para la epistaxis, sin existir un tratamiento definitivo para la enfermedad. A continuación, presentaremos el caso de una paciente de 56 años con THH y epistaxis recurrentes severas que, tras no responder al tratamiento médico conservador y múltiples procedimientos quirúrgicos, se realizó el cierre nasal mediante el procedimiento de Young, constituyendo el primer caso reportado en nuestro país.

Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia, of autosomal dominant inheritance, characterized by the development of mucocutaneous telangiectasias and visceral arteriovenous malformations. The diagnosis is made using the Curafao criteria published in 2000 and its management requires a multidisciplinary team where the role of the ENTs is fundamental, since epistaxis occurs in 90%-95% of patients, being one of the first clinical manifestations of the disease and may threaten the life of the patient. Multiple medical and surgical treatment alternatives for epistaxis are described in the literature without a definitive treatment for the disease. Here, we present the case of a 56-year-old patient with severe recurrent HHT and epistaxis who, after not responding to the initial conservative and surgical treatments, a nasal closure was performed, using the Young's procedure, constituting the first case reported in our country.

Enfermedad de Rendu-Osler-Weber con presentación inusual / Rendu-Osler-Weber´s disease with unusual presentation

La enfermedad de Rendu-Osler-Weber, también conocido como telangiectasia hemorrágica hereditaria, es una enfermedad genética de herencia autosómica dominante con penetrancia incompleta. Afecta por igual a ambos sexos y los síntomas se inician habitualmente entre los 20 y 40 años, pero se considera que la enfermedad está infradiagnosticada. Típicamente las formas clínicas y el debut de esta enfermedad se asocian a los órganos y tejidos que se afectan con mayor frecuencia: telangiectasias en mucosas y en piel, epistaxis, sangramiento gastrointestinal, pulmonar e intracerebral. En contraste, el caso clínico que se presenta se caracteriza porque las primeras manifestaciones clínicas que motivaron la consulta médica fueron crisis de dolores e inflamación ósea en el miembro superior derecho, lo cual es inusual y se inscribe como un elemento de novedad en la enfermedad. Es el objetivo de esta publicación exponer un caso de telangiectasia hemorrágica hereditaria con una forma de presentación atípica en una adolescente. Al alta hospitalaria, la paciente estaba estable, sin complicaciones. Se recomendó seguimiento hospitalario fundamentalmente por la especialidad de Neumología, por ser los pulmones los órganos más afectados(AU)

Rendu-Osler-Weber´s disease, also known as hereditary hemorrhagic telangiectasia, is a genetic disease of autosomal dominant inheritance with incomplete penetrance. It affects both sexes equally and symptoms usually begin between the ages of 20 and 40, but it is considered that the disease is underdiagnosed. Typically, the clinical forms and the onset of this disease are associated with the organs and tissues that are most frequently affected: mucosal and skin telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. In contrast, the clinical case that is presented is characterized because the first clinical manifestations that motivated the medical consultation were crises of pain and bone inflammation in the right upper limb, which is unusual and is inscribed as an element of novelty in the disease. The objective of this publication is to present a case of hereditary hemorrhagic telangiectasia with an atypical presentation in a female teenager(AU)

Chemical screen identifies shikonin as a broad DNA damage response inhibitor that enhances chemotherapy through inhibiting ATM and ATR

DNA damage response (DDR) is a highly conserved genome surveillance mechanism that preserves cell viability in the presence of chemotherapeutic drugs. Hence, small molecules that inhibit DDR are expected to enhance the anti-cancer effect of chemotherapy. Through a recent chemical library screen, we identified shikonin as an inhibitor that strongly suppressed DDR activated by various chemotherapeutic drugs in cancer cell lines derived from different origins. Mechanistically, shikonin inhibited the activation of ataxia telangiectasia mutated (ATM), and to a lesser degree ATM and RAD3-related (ATR), two master upstream regulators of the DDR signal, through inducing degradation of ATM and ATR-interacting protein (ATRIP), an obligate associating protein of ATR, respectively. As a result of DDR inhibition, shikonin enhanced the anti-cancer effect of chemotherapeutic drugs in both cell cultures and in mouse models. While degradation of ATRIP is proteasome dependent, that of ATM depends on caspase- and lysosome-, but not proteasome. Overexpression of ATM significantly mitigated DDR inhibition and cell death induced by shikonin and chemotherapeutic drugs. These novel findings reveal shikonin as a pan DDR inhibitor and identify ATM as a primary factor in determining the chemo sensitizing effect of shikonin. Our data may facilitate the development of shikonin and its derivatives as potential chemotherapy sensitizers through inducing ATM degradation.

Expression and functional SNP loci screen of ATM from coal worker's pneumoconiosis / 中华劳动卫生职业病杂志

Objective: To detect of gene expression and genotype of the ataxia telangiectasia mutated (ATM) from coal workers' pneumoconiosis (CWP) , It is explored whether CWP is related to ATM gene. Methods: In October 2020, the relevant information of 264 subjects who received physical examination or medical treatment in the Department of occupational diseases of Guiyang public health treatment center from January 2019 to September 2020 was collected. Through the occupational health examination, 67 healthy people with no history of exposure to occupational hazards were selected as the healthy control group; The coal miners with more than 10 years of coal dust exposure history and small shadow in the lung but not up to the diagnostic criteria were the dust exposure control group, a total of 66 people; The patients with the same history of coal dust exposure and confirmed stage I were coal worker's pneumoconiosis stage I group, a total of 131 people. The expression of ATM was detected by QRT PCR. ATM rs189037 and rs1801516 were genotyped by massarray. Results: There was significant difference in the expression of ATM among the groups (P<0.05) ; Compared with the healthy control group, the expression of ATM in the dust exposed control group was significantly increased (P<0.05) . With the occurrence and development of CWP, the GG of rs189037 wild type decreased, the GA of mutant heterozygote and AA of homozygote increased, but the difference was not statistically significant (P>0.05) ; Rs1801516 wild type GG and mutant heterozygote GA had no significant changes (P>0.05) . There were significant differences in age, neutrophils and basophils among rs189037 groups (all P<0.05) . There were no significant differences in blood pressure, eosinophils, lymphocytes, monocytes, smoking and drinking history among rs189037 groups (all P>0.05) . Compared with wild-type GG, the or of mutant heterozygotes and homozygotes increased, but the differences were not statistically significant (P>0.05) . Conclusion: ATM gene may be one of the early activation genes of CWP and rs189037 may be the functional loci which affects gene expression. ATM gene is related to inflammatory response, Neutrophils and basophils have an impact on the development of CWP.

Correlation analysis between ATM gene polymorphism and susceptibility of sporadic breast cancer / 中国医师杂志

Objective:To analyze the relationship between ataxia telangiectasia mutated (ATM) single nucleotide polymorphism (SNP) at rs1801516 and rs1800054 and sporadic breast cancer (SBC) in Inner Mongolia.Methods:A total of 102 patients with SBC (72 Han and 30 Mongolian) who were admitted to the Affiliated Hospital of Inner Mongolia Medical University from January 2018 to September 2019 were prospectively collected as case group and 102 healthy women (72 Han and 30 Mongolian) during the same period as control group. 2 ml of venous blood was collected to extract DNA. According to the Single Nucleotide Polymorphism Database (dbSNP), the highly polymorphic sites rs1801516 and rs1800054 of ATM gene were selected. The polymerase chain reaction (PCR) and direct sequencing were used to detect the polymorphism of the two sites, and the correlation between the single nucleotide polymorphism of the two sites and the susceptibility of SBC in Inner Mongolia was analyzed. The potential association between clinicopathological factors and ATM gene polymorphism in patients with SBC in Inner Mongolia were explored.Results:GG, GA and AA genotypes were detected in rs1801516 locus of ATM gene. Only CC genotype was detected in the rs1800054 locus of ATM gene. There was no significant difference in the distribution of genotype frequency and allele frequency between Mongolian breast cancer group and Han breast cancer group, Mongolian control group and Han control group, Mongolian breast cancer group and Mongolian control group, Han breast cancer group and Han control group (all P>0.05). Logistic regression analysis showed that allele G was the susceptibility gene of SBC in Inner Mongolia ( OR: 1.775, 95% CI: 1.04-3.03, P=0.04). ATM rs1801516 polymorphism may be associated with increased risk of breast cancer in patients with mass diameter ≤2 cm and/or without lymph node metastasis (all P<0.05). Conclusions:The polymorphism of ATM gene rs1801516 and rs1800054 may not be significantly correlated with the risk of SBC in Inner Mongolia. The rs1801516 locus may be associated with increased risk of breast cancer in patients with mass diameter ≤2 cm and/or without lymph node metastasis. Gene G may be one of the susceptible genes of SBC in Inner Mongolia.

Hereditary hemorrhagic telangiectasia complicated by aortic sinus aneurysm caused by a pathogenic mutation in the ACVRL1 gene: a family survey / 中华皮肤科杂志

Objective:To investigate clinical and genetic characteristics of a family with hereditary hemorrhagic telangiectasia complicated by aortic sinus aneurysm, and to analyze causative genes.Methods:Clinical data and peripheral blood samples were collected from the proband and her relatives, and genomic DNA was extracted. Causative genes were screened by whole-exome sequencing, and then verified by Sanger sequencing.Results:A heterozygous mutation c.137G>A was identified at position 137 in exon 3 of the ACVRL1 gene in the proband, her daughter, grandson and granddaughter, which led to the substitution of cysteine by tyrosine at amino acid position 46 (p.C46Y) . The mutation was not found in any of the other 5 family members without clinical symptoms.Conclusion:A causative mutation c.137G>A (p.C46Y) in the ACVRL1 gene was identified in the family with hereditary hemorrhagic telangiectasia type 2 complicated by aortic sinus aneurysm, which had not been previously reported in Asian populations.