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.

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.

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.

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.

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.

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.

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.

Cirugía de Young para el tratamiento quirúrgico de la epistaxis en telangiectasia hemorrágica hereditaria: reporte de un caso y revisión de la literatura

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.

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.

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)

Clinicopathological analysis of four cases of intravascular large B-cell lymphoma / 中华皮肤科杂志

Objective:To investigate clinicopathological features of 4 cases of intravascular large B-cell lymphoma (IVLBCL) .Methods:Clinical and pathological data were collected from 4 patients with histopathologically confirmed IVLBCL in Department of Dermatology, Peking Union Medical College Hospital from January 2020 to November 2020, and retrospectively analyzed.Results:The 4 patients were aged 57 - 76 years, including 2 males and 2 females. Of the 4 patients, all had neurological symptoms, 3 had fever, 3 exhibited impaired exercise tolerance and suffocation, and 3 exhibited pitting edema of the body. Case 1 presented with a cherry hemangioma-like papule measuring 0.2 cm in diameter on the back, and case 2 with telangiectasia on the left breast and upper abdomen. Six skin samples were taken from the 4 patients for histopathological and immunohistochemical studies, and tumor cells were found in 1 cherry hemangioma-like lesion and 1 lesion of telangiectasia, as well as in 2 of 4 normal skin samples. Histopathological findings mainly were dilated dermal blood vessels filled with large atypical mononuclear cells, and the atypical mononuclear cells were positive for CD20 immunohistochemically.Conclusion:For those patients with suspected IVLBCL, hemangioma-like and telangiectasia lesions tend to show characteristic histopathological and immunohistochemical findings, and a biopsy of normal skin can facilitate early diagnosis of IVLBCL.

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.

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.

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.

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.

Telangiectasia hemorrágica hereditaria durante el embarazo: Reporte de caso / Hereditary hemorrhagic telangiectasia during pregnancy: Case report

Resumen ANTECEDENTES: La telangiectasia hemorrágica hereditaria, o síndrome de Rendu-Osler-Weber, es una enfermedad vascular, hereditaria y autosómica caracterizada por telangiectasias mucocutáneas y malformaciones arteriovenosas en el pulmón, el cerebro e hígado. La prevalencia estimada es de 1.5 a 2 personas afectadas por cada 10,000 habitantes. El 90% de los casos se debe a una mutación en el gen endoglina y en el de la cinasa 1 similar al receptor de activina (ACVRL1). En la mujer embarazada, la telangiectasia hemorrágica hereditaria es de alto riesgo, sobre todo durante el segundo y tercer trimestre. OBJETIVO: Reportar un caso de telangiectasia hemorrágica hereditaria y exponer las complicaciones que pueden registrarse durante el embarazo. CASO CLÍNICO: Paciente de 23 años, con antecedente heredofamiliar de madre con diagnóstico de telangiectasia hemorrágica hereditaria (síndrome de Osler-Weber-Rendu) que falleció a los 38 años. Antecedente personal patológico de telangiectasia hemorrágica hereditaria, con diagnóstico a los 12 años luego de múltiples episodios de epistaxis. Recibió tratamiento con transfusiones sanguíneas en múltiples ocasiones y 200 mg de sulfato ferroso cada 24 horas. CONCLUSIÓN: La telangiectasia hemorrágica hereditaria condiciona, en la mujer embarazada, la aparición de complicaciones que pueden poner en riesgo la vida de la madre y el feto. Las mujeres con antecedente conocido deben valorarse antes de la concepción con el propósito de conocer el estado de la enfermedad.

Abstract BACKGROUND: Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal inherited vascular disease characterized by mucocutaneous telangiectasias and arteriovenous malformations in the lung, brain and liver. The estimated prevalence is 1.5 to 2 affected persons per 10,000 population. Ninety percent of cases are due to a mutation in the endoglin gene and in the activin receptor-like kinase 1 gene (ACVRL1). In pregnant women, hereditary hemorrhagic telangiectasia is high risk, especially during the second and third trimester. OBJECTIVE: To report a case of hereditary hemorrhagic telangiectasia and to expose the complications that can occur during pregnancy. CLINICAL CASE: 23-year-old patient, with hereditary family history of mother diagnosed with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) who died at 38 years of age. Personal pathological history of hereditary hemorrhagic telangiectasia, diagnosed at the age of 12 years after multiple episodes of epistaxis. She was treated with multiple blood transfusions and 200 mg of ferrous sulfate every 24 hours. CONCLUSION: Hereditary hemorrhagic telangiectasia conditions, in pregnant women, the appearance of complications that can put the life of the mother and fetus at risk. Women with a known history should be evaluated before conception in order to know the status of the disease.

Sangramento gastrointestinal em paciente portador de síndrome de Rendu-Osler-Weber: relato de caso / Gastrointestinal bleeding in a patient with Osler-Weber-Rendu syndrome: a case report / Sangrado gastrointestinal en paciente con síndrome de Rendu-Osler-Weber: reporte de caso

A síndrome de Rendu-Osler-Weber, ou telangiectasia hemorrágica hereditária (THH), é uma doença autossômica dominante de penetrância variável que altera a camada muscular e elástica da parede dos vasos sanguíneos, causando neles grande fragilidade e dilatação e tornando-os suscetíveis a sangramentos secundários, a traumatismos e malformações arteriovenosas (MAV) ­ sendo elas as mais comuns no cérebro, nos pulmões e no trato gastrointestinal e hepático. Este relato de caso tem como objetivo realizar uma revisão sobre essa síndrome, bem como a respeito da melhor terapia e do melhor manejo para sangramentos gastrointestinais por angiectasias. Trata-se de uma paciente de 62 anos de idade, com episódio de hematêmese e melena recorrentes, que foi admitida instável hemodinamicamente e com queda importante dos níveis de hemoglobina, necessitando de múltiplas transfusões sanguíneas. Após entrevista clínica, que chamou a atenção para o histórico familiar de quadros similares, epistaxes recorrentes associados ao exame físico e angiectasias gástricas à endoscopia digestiva alta, foi atribuído o diagnóstico de síndrome de Rendu-Osler-Weber. Angiectasias foram erradicadas com terapia endoscópica usando plasma de argônio. A THH é uma doença subdiagnosticada que merece atenção especial por conta do seu risco de causar hemorragias graves com expressão fenotípica mais aflorada com o avançar da idade. Por seu cunho hereditário, faz-se necessário um acompanhamento médico linear com a família para evitar complicações secundárias da doença, bem como para o manejo adequado de suas apresentações.

Osler-Weber-Rendu syndrome or hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that changes the muscular and elastic layer of the blood vessel wall, making them fragile and more susceptible to bleeding secondary to trauma and arteriovenous malformations (AVM) ­ a condition that commonly affects the brain, lungs, gastrointestinal tract, and liver. This study aims to perform a literature review on this syndrome, as well as on the best treatment and management for gastrointestinal bleeding from angioctasia. To this end, it reports the case of a 62-year-old female patient with recurrent episodes of hematemesis and melena, who was admitted to hospital with hemodynamic instability and low hemoglobin levels, requiring multiple blood transfusions. After clinical interview, which indicated family history of recurrent epistaxis, physical examination, and upper digestive endoscopy showing gastric angiectasias, the patient was diagnosed with Osler-Weber-Rendu syndrome. Angiectasias were treated with endoscopic argon plasma. Considering the risk of severe hemorrhages and its more pronounced phenotypic expression with advancing age, HHT is an underdiagnosed disease that deserves special attention. Due to its hereditary nature, a linear medical follow-up with the family is necessary to avoid secondary complications of the disease, as well as the proper management of its presentations.

El síndrome de Rendu-Osler-Weber o telangiectasia hemorrágica hereditaria (THH) es una enfermedad autosómica dominante de penetrancia variable, que modifica la capa muscular y elástica de la pared de los vasos sanguíneos, provocando una gran fragilidad y dilatación de estas, haciéndolas susceptibles a hemorragias secundarias a trauma y malformaciones arteriovenosas (MAV), que son las más comunes en el cerebro, pulmones, tracto gastrointestinal e hígado. Este estudio tiene como objetivo realizar una revisión de este síndrome, así como la mejor terapia y manejo del sangrado gastrointestinal por angioctasia en esta patología. Se trata de un paciente de 62 años, con episodio de hematemesis recurrente y melena, que ingresa hemodinámicamente inestable y con descenso significativo de los niveles de hemoglobina, requiriendo múltiples transfusiones sanguíneas. Tras entrevista clínica, destacando los antecedentes familiares de patologías similares, epistaxis recurrente, exploración física y angiectasias gástricas a endoscopia digestiva alta, se asignó el diagnóstico de síndrome de Rendu-Osler-Weber. Las angiectasias se erradicaron con terapia endoscópica con plasma de argón. La HHT es una enfermedad infradiagnosticada que merece una atención especial por su riesgo de hemorragias severas, con una expresión fenotípica más pronunciada con el avance de la edad. Además de su carácter hereditario, es necesario un seguimiento médico lineal con la familia para evitar complicaciones secundarias de la enfermedad, así como el adecuado manejo de sus presentaciones.

Epistaxis: aspectos nuevos a considerar / Epistaxis: new aspects to consider

La epistaxis es una de las urgencias otorrinolaringológicas más frecuentes, y se estima que un 6% requerirá algún tipo de intervención. Según la localización del sitio de sangrado puede clasificarse en anterior, posterior o superior. A lo largo de la historia su manejo ha seguido ciertos ejes que se mantienen vigentes, como son la compresión nasal, posicionamiento de la cabeza, taponamiento nasal, entre otros. Tras la implementación de la evaluación endoscópica sistemática del sitio de sangrado, estudios han descrito un nuevo punto de sangrado denominado S-point, que debiese ser especialmente considerado en epistaxis severa. Además, durante los últimos años la evidencia ha revelado ciertos aspectos especiales y relevantes en torno a la evaluación y/o manejo de pacientes con epistaxis y condiciones asociadas, como el uso de terapia antitrombótica, telangiectasia hemorrágica hereditaria o con hipertensión arterial. El objetivo de esta revisión es resumir aspectos novedosos en la evaluación, estudio y manejo de la epistaxis, donde se incluirán el uso de ácido tranexámico y de nuevos dispositivos intranasales.

Epistaxis is one of the most frequent otorhinolaryngological emergencies, and it is estimated that 6% require some type of intervention. Depending on the location of the bleeding site, it may be classified as anterior, posterior or superior. Throughout history, its treatment has remained the same, including nasal compression, head positioning, nasal packing, among others. After the implementation of the systematic endoscopic assessment of the bleeding site, studies have described a new point of bleeding called S-point, which should be especially considered in severe epistaxis. In addition, during the last years the evidence has revealed certain special and relevant aspects regarding the evaluation and/or management of patients with epistaxis and associated conditions, such as the use of antithrombotic therapy, hereditary hemorrhagic telangiectasia or arterial hypertension. The objective of this review is to summarize novel aspects in the evaluation, study and management of epistaxis, which include the use of tranexamic acid and new intranasal devices.

Coats disease with retinal neovascularization under subfoveal nodule: optical coherence tomography-angiography findings before and after ranibizumab treatment / Doença de Coats com neovascularização da retina sob nódulo subfoveal: achados da angiografia com tomografia de coerência óptica (OCT) antes e depois do ranibizumabe

ABSTRACT We conducted retinal neovascularization under subfoveal fibrotic nodule for Coats disease by using optic coherence tomography-angiography before and after ranibizumab treatment. Our patient was an 8-year-old boy who was referred with suspicious left retinal mass. His visual acuity was 20/400 in the left eye and 20/20 in the right eye at the time of admission. Posterior segment evaluation of the left eye revealed telengiectatic vessels at the inferotemporal region of the peripheral retina with hard exudates around the optic disc and macula typical for Coats disease. His optic coherence tomography revealed a subfoveal fibrotic nodule after ranibizumab injections and laser photocoagulation treatment. The optic coherence tomography-angiography results revealed neovascularization under the subfoveal nodule at the superficial vascular complex layer. After 3 intravitreal ranibizumab injections, his neovascularization regressed on optic coherence tomography-angiography and his visual acuity improved. To the best of our knowledge, this is the first report demonstrating neovascularization under the subfoveal fibrotic nodule in Coats disease on the basis of comparative with the help of optic coherence tomography-angiography before and after the treatment.

RESUMO Demonstramos uma neovascularização da retina sob o nódulo fibrótico subfoveal na doença de Coats com a ajuda da Angiotomografia de Coerência Óptica (OCT-A) antes e após o tratamento com ranibizumabe. Paciente do sexo masculino de 8 anos foi encaminhado com suspeita de massa retiniana no olho esquerdo. A acuidade visual foi de 20/400 no olho esquerdo e de 20/20 no olho direito. A avaliação do segmento posterior do olho esquerdo revelou vasos telengiectáticos na região inferotemporal da retina periférica e exsudados duros em torno do disco óptico e mácula típica da doença de Coats. A angiotomografia de coerência óptica apresentou nódulo fibrótico subfoveal após injeções de ranibizumabe e tratamento com fotocoagulação a laser. A angiotomografia de coerência óptica mostrou neovascularização sob o nódulo subfoveal na camada superficial do complexo vascular. Após três injeções de ranibizumabe intravítreo, a neovascularização regrediu na angiografia por tomografia de coerência óptica e a acuidade visual melhorou. onde sabemos, este é o primeiro relato a mostrar neovascularização sob nódulo fibrótico subfoveal na Doença de Coats com a ajuda da angiografia por tomografia de coerência óptica antes e após o tratamento.

Síndrome de Peutz-Jeghers, telangiectasias y prolapso de la válvula mitral. Presentación de caso y asesoramiento genético / Peutz-Jeghers syndrome, telangiectasias, and mitral valve prolapse. Case presentation and genetic counseling

Introducción: El síndrome de Peutz-Jeghers se caracteriza por hiperpigmentación mucocutánea y hamartomas gastrointestinales que pueden aparecer desde el estómago hasta el ano. Tiene un patrón de herencia autosómico dominante y expresividad variable. El diagnóstico se basa en los hallazgos clínicos y la apariencia histológica de los pólipos. No ha sido reportado hasta ahora asociación de esta entidad a telangiectasias y prolapso de la válvula mitral. Objetivo: Describir los hallazgos que permitieron establecer el diagnóstico de Síndrome de Peutz-Jeghers en un paciente y brindar asesoramiento genético. Presentación del caso: Paciente masculino de 36 años de edad con antecedentes de prolapso de la válvula mitral que acude a consulta de genética clínica con su esposa para solicitar asesoramiento genético, debido a que tienen una hija con diagnóstico de Síndrome de Peutz-Jeghers y desean conocer el riesgo de tener otro hijo afectado. Al examen físico se observa mácula hiperpigmentada en labio inferior y varias de estas en encías. Con tales hallazgos y el antecedente de tener la hija Síndrome de Peutz-Jeghers se emite el mismo diagnóstico en el padre. Como dato de interés se constatan en este individuo múltiples telangiectasias en tórax, cuello y espalda. Los estudios realizados en busca de la causa de estas fueron negativos. Conclusiones: Los antecedentes y los hallazgos encontrados en el paciente permitieron realizar el diagnóstico de Peutz-Jeghers y brindar asesoramiento genético. Se presenta el primer reporte de esta enfermedad asociada a telangiectasias y prolapso de la válvula mitral en la literatura científica(AU)

Introduction: Peutz-Jeghers syndrome is characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomas that can appear from the stomach to the anus. It has an autosomal dominant inheritance pattern and variable expressiveness. The diagnosis is based on clinical findings and histological appearance of the polyps. No association between this entity and telangiectasias and mitral valve prolapse has been reported so far. Objective: To describe the findings that made it possible to establish the diagnosis of Peutz-Jeghers syndrome in a patient and to provide genetic counseling. Case presentation: Thirty-six-year-old male patient with a history of mitral valve prolapse who attends a clinical genetics consultation with his wife to request genetic counseling due to the fact that their daughter was diagnosed with Peutz-Jeghers Syndrome and they want to know about the risk of having another affected child. On physical examination, a hyperpigmented macule on the lower lip and several of these on the gums were observed. With such findings and the antecedent of having a daughter with Peutz-Jeghers syndrome, the same diagnosis is made in the father. As data of interest, multiple telangiectasias on the thorax, neck and back were found in this individual. The studies carried out to identify the same cause were negative. Conclusions: The history and findings in this patient allowed us to make the diagnosis of Peutz-Jeghers syndrome as well as to provide genetic counselling. The first report of this disease associated with telangiectasias and mitral valve prolapse is presented in the scientific literature(AU)