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1.
Plants (Basel) ; 13(17)2024 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-39274006

RESUMEN

Pollen carries extensive genetic information, which may provide clues regarding the kinship of Malus, whose genetic relationships are complex. In this study, the phenotypic variation of pollen from 107 Malus taxa was investigated using combined methods of intraspecific/interspecific uniformity testing, cluster analysis, and Pearson correlation analysis. The family aggregation distributions in Malus sections, species, and cultivars were analyzed to infer their pedigree relationships. The results showed that (1) compared with pollen size and morphology, aberrant pollen rate and ornamentation were highly interspecifically differentiated, but ornamentation was also intraspecifically unstable, especially perforation densities (c.v.¯ > 15%). (2) The pollen alteration direction from the original to the evolutionary population of Malus was large to small, with elliptic to rectangular morphologies, large and compact to small and sparse ridges, and low to high perforation densities. However, there was no significant change in pollen size. (3) The 107 studied taxa were divided into four groups. Malus species were relatively clustered in the same section, while homologous cultivars showed evidence of family aggregation distribution characteristics (92.60% of cultivars were clustered with their parents). (4) M. baccata and M. pumilar var. neidzwetzkyana were high-frequency parents, participating in 38.7% and 20.7% of cross-breeding, respectively. Overall, this study provides a reference for identifying Malus' pedigree relationship.

2.
Int J Cardiol ; 407: 132028, 2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-38583593

RESUMEN

AIMS: To determine whether a family history of unexplained heart failure (HF) in first-degree relatives (children or sibling) increases the rate of unexplained HF. METHODS AND RESULTS: Using Danish nationwide registry data (1978-2017), we identified patients (probands) diagnosed with first unexplained HF (HF without any known comorbidities) in Denmark, and their first-degree relatives. All first-degree relatives were followed from the HF date of the proband and until an event of unexplained HF, exclusion diagnosis, death, emigration, or study end, whichever occurred first. Using the general population as a reference, we calculated adjusted standardized incidence ratios (SIR) of unexplained HF in the three groups of relatives using Poisson regression models. We identified 55,110 first-degree relatives to individuals previously diagnosed with unexplained HF. Having a family history was associated with a significantly increased unexplained HF rate of 2.59 (95%CI 2.29-2.93). The estimate was higher among siblings (SIR 6.67 [95%CI 4.69-9.48]). Noteworthy, the rate of HF increased for all first-degree relatives when the proband was diagnosed with HF in a young age (≤50 years, SIR of 7.23 [95%CI 5.40-9.68]) and having >1 proband (SIR of 5.28 [95%CI 2.75-10.14]). The highest estimate of HF was observed if the proband was ≤40 years at diagnosis (13.17 [95%CI 8.90-19.49]. CONCLUSION: A family history of unexplained HF was associated with a two-fold increased rate of unexplained HF among first-degree relatives. The relative rate was increased when the proband was diagnosed at a young age. These data suggest that screening families of unexplained HF with onset below 50 years is indicated.


Asunto(s)
Insuficiencia Cardíaca , Sistema de Registros , Humanos , Dinamarca/epidemiología , Insuficiencia Cardíaca/epidemiología , Insuficiencia Cardíaca/diagnóstico , Masculino , Femenino , Persona de Mediana Edad , Adulto , Estudios de Cohortes , Anciano , Incidencia , Análisis por Conglomerados , Adulto Joven , Adolescente , Familia , Niño , Predisposición Genética a la Enfermedad/epidemiología , Anciano de 80 o más Años
3.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1016434

RESUMEN

Objective To investigate the status of familial aggregation of Helicobacter pylori (Hp) infection in Jinniu District, Chengdu, and analyze its risk factors so as to provide a basis for developing prevention and control strategies of family aggregation of Hp infection. Methods A total of 172 subjects in the Second Affiliated Hospital of Chengdu Medical College · 416 Hospital of Nuclear Industry from January 2022 to January 2023 were selected as the research subjects. All subjects underwent 13C-urea breath test (13C-UBT) to diagnose whether there was Hp infection. Analyze the current situation of family aggregation of Hp infection in the region, collect general data of survey subjects, analyze the relevant factors affecting Hp family aggregation infection, and develop prevention and control strategies based on this. Results A total of 242 people from 97 households were surveyed, and the Hp family aggregation rate was 29.33%. Univariate analysis showed that there were statistically significant differences in family aggregation of Hp infection in terms of different age groups (χ2=9.719, P=0.008), marital status (χ2=8.496, P=0.014), occupations (χ2=19.462, P2=5.457, P=0.019), previous Hp test results (χ2 =4.131, P=0.042) and test results after treatment (χ2=12.000, P=0.001), with statistical significance (P<0.05). Multivariate logistic regression analysis showed that the frequency of dining out 2 days or more per week and a positive Hp test results in the past were risk factors for family aggregation of Hp infection, while the occupation of teachers/medical staff/management/technology personnel and a negative Hp results after treatment were protective factors (P<0.05). Conclusion Family aggregation of Hp infection is related to family members' occupation, frequency of dining out, previous Hp test results and Hp test results after eradication, which deserves attention in clinical practice.

4.
Case Rep Oncol ; 16(1): 734-738, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37900785

RESUMEN

Acute myeloid leukemia (AML) is a large class of heterogeneous hematological malignancies with the highest incidence rate in acute leukemia. Its pathogenesis is still unclear, which may be related to genetics. According to the latest AML NCCN guidelines, genes involved in AML family genetic changes include RUNX1, ANKRD26, CEBPA. Finding new genes related to AML genetics is of great significance for predicting the prognosis of patients, developing targeted drugs, and selecting transplant donors. Here, we report a case of adult female AML patient whose three relatives suffered from hematological malignancies, including Waldenstrom macroglobulinemia, NK/T-cell lymphoma, and angioimmunoblastic T-cell lymphoma. The screen for genetic susceptibility genes related to blood and immune system diseases was carried out, and the result showed that the patient herself, her son, her daughter, and her two cousins all had STK11 p.F354L and/or THBD p.D486Y mutations. At present, there is no research or case report on the relationship between STK11/THBD and family aggregation of hematological malignancies. We report for the first time that an AML patient with STK11 and THBD mutations has a family aggregation of hematological malignancies, and consider that STK11 and THBD may be related to family genetic changes which ultimately cause the family aggregation of hematological malignancies.

5.
Biomed J ; 46(4): 100549, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-35863666

RESUMEN

BACKGROUND: Family disease history plays a vital role in type 2 diabetes mellitus (T2DM) risk. However, the familial aggregation of T2DM among different kinship relatives warrants further investigation. METHODS: This nationwide kinship relationship study collected 2000-2016 data of two to five generations of the Taiwanese population from the National Health Insurance Research Database. Approximately 4 million family trees were constructed from the records of 20, 890, 264 Taiwanese residents during the study period. T2DM was diagnosed on the basis of ICD-9-CM codes 250.x0 or 250.x2, with three consecutive related prescriptions. The Cox proportional hazard model was used for statistical analysis. RESULTS: Compared with their counterparts, individuals who had first-degree relatives with T2DM were more likely to develop T2DM during the follow-up period (hazard ratio [HR], 2.37-27.75), followed by individuals who had second-degree relatives with T2DM (HR, 1.29-1.88). T2DM relative risk was higher in those with an affected mother than in those with affected father. The HR for T2DM was 20.32 (95%CI = 15.64-26.42) among male individuals with an affected twin brother, whereas among female individuals with an affected twin sister, it was 60.07 (95%CI = 40.83-88.36). The HRs presented a dose-response relationship with the number of affected family members. CONCLUSION: The study suggests a significant familial aggregation of T2DM occurrence; these findings could aid in identifying the high-risk group for T2DM and designing early intervention strategies and treatment plans.


Asunto(s)
Diabetes Mellitus Tipo 2 , Diabetes Mellitus Tipo 2/genética , Taiwán , Humanos , Familia , Linaje , Masculino , Femenino , Factores Sexuales , Factores de Edad , Riesgo , Interacción Gen-Ambiente , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años
6.
Arthritis Res Ther ; 24(1): 1, 2022 01 03.
Artículo en Inglés | MEDLINE | ID: mdl-34980262

RESUMEN

BACKGROUND: Ankylosing spondylitis is a progressive, disabling joint disease that affects millions worldwide. Given its unclear etiology, studies of ankylosing spondylitis relied heavily on drug-induced or transgenic rodent models which retain only partial clinical features. There is obviously a lack of a useful disease model to conduct comprehensive mechanistic studies. METHODS: We followed a group of cynomolgus monkeys having joint lesions reported of spinal stiffness for 2 years by conducting hematological testing, radiographic examination, family aggregation analysis, pathological analysis, and genetic testing. RESULTS: The results confirmed that these diseased animals suffered from spontaneous ankylosing spondylitis with clinical features recapitulating human ankylosing spondylitis disease progression, manifested by pathological changes and biochemical indicators similar to that of ankylosing spondylitis patients. CONCLUSION: The study offers a promising non-human primate model for spontaneous ankylosing spondylitis which may serve as an excellent substitute for its pre-clinical research.


Asunto(s)
Espondilitis Anquilosante , Animales , Progresión de la Enfermedad , Humanos , Macaca fascicularis , Modelos Animales , Columna Vertebral/patología , Espondilitis Anquilosante/diagnóstico por imagen , Espondilitis Anquilosante/genética
7.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-924160

RESUMEN

ObjectiveTo analyze the epidemiological characteristics of a family cluster of COVID-19 in a district of Shanghai, and to provide a scientific basis for prevention and control of cluster epidemic of COVID-19. MethodsField epidemiological survey was applied to study the cases and close contacts of a family cluster of COVID-19 in a district of Shanghai in 2021. Descriptive analysis of epidemiological survey data was conducted and real-time fluorescent quantification (RT-PCR) was used to detect new coronavirus nucleic acid for the collected specimens. ResultsCase A was the source of infection in the home aggregated epidemic. There were 2 second-generation cases infected in the whole incubation period. Case B and C were transmitted by case A through eating together. The PCR test results were negative both in the close contacts outside the family of primary contacts as well as in the close contacts to primary close contacts. ConclusionCOVID-19 is highly contagious and populations are generally susceptible. It is easy to cause family aggregated epidemic situation. Asymptomatic infection should be detected early and isolated. We should strengthen the tracking and management of close contacts of COVID-19 cases, and identify the second-generation cases as soon as possible.

8.
Int J Cardiol Hypertens ; 9: 100084, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34013183

RESUMEN

BACKGROUND: Gestational hypertension and preeclampsia are hypertensive disorders related to pregnancy that can cause maternal morbidity and fetal growth retardation. The association of these disorders with family history remains unclear. OBJECTIVES: To examine the degree of family aggregation of preeclampsia and gestational hypertension in Taiwan. METHODS: The study was conducted using the data from the National Health Insurance Database of Taiwan. Delivery events in Taiwan from 1999 to 2013 were collected. Preeclampsia was identified based on the hospital diagnosis of index delivery. The family aggregation pattern of preeclampsia was assessed and analyzed using the relationship registered in the database with the patients. RESULTS: A total of 60,314 preeclampsia events were identified among 4,091,641 deliveries, accounting for 1.5% of the cohort. The incidence of preeclampsia increased with maternal age. A total of 768 preeclampsia events occurred in mothers who had a sororal history of preeclampsia (n = 20,704), accounting for 1.3% of all preeclampsia events (n = 60,314). Mothers who had a sororal history of preeclampsia had a relative risk (RR) of 2.6 (95% confidence interval [CI]: 2.41-2.80) for preeclampsia compared with mothers who did not have a sororal history of preeclampsia. The RR for gestational hypertension was 2.79 (95% CI: 2.36-3.3) in mothers with a positive sororal history of gestational hypertension. CONCLUSIONS: Having a sororal history of preeclampsia was a strong risk factor for preeclampsia and gestational hypertension in mothers in Taiwan. The pattern of family aggregation was similar at all maternal ages.

9.
Rev. habanera cienc. méd ; 20(2): e3509, mar.-abr. 2021. tab
Artículo en Español | LILACS, CUMED | ID: biblio-1251801

RESUMEN

Introducción: La hipertensión arterial es una de las enfermedades crónicas causada por la interacción de los factores etiopatogénicos genéticos y ambientales. Objetivo: Determinar la existencia de agregación familiar en la hipertensión arterial. Material y Métodos: Se realizó un estudio observacional analítico de casos y controles, para determinar la agregación familiar de la hipertensión arterial. El universo estuvo constituido por todos los pacientes (257) con factores de riesgo de hipertensión arterial; la muestra quedó conformada por 60 pacientes distribuidos en 30 pacientes hipertensos (casos) y 30 pacientes sin el diagnostico (controles). La información recogida se procesó mediante la utilización del paquete estadístico Epinfo. Resultados: En el grupo casos, predominaron familiares de primer grado con antecedentes de hipertensión (43,9 por ciento) y para los controles, los familiares de grado 2 fueron los que representaron 44,1 por ciento. Los malos hábitos dietéticos se presentaron como el factor de riesgo de mayor frecuencia en ambos grupos con 28,7 por ciento y 47,5 por ciento, respectivamente. Para los pacientes con antecedentes familiares positivos (OR= 1,93, p= 0,008 IC 95 por ciento=1,18-3,16) tuvieron más riesgo de padecer hipertensión al igual que para el factor de riesgo obesidad (OR= 9,03, IC 95 por ciento= 2,80-29,1 p =0,0001). Conclusiones: Se determinó la existencia de agregación familiar para la hipertensión arterial, con mayor riesgo de padecer la enfermedad en las personas con historia familiar en primer grado positiva para la hipertensión y la presencia de obesidad(AU)


Introduction: Arterial hypertension is one of the chronic diseases caused by the interaction of genetic and environmental etiopathogenic factors. Objective: To determine the existence of family aggregation of arterial hypertension. Material and Methods: A cross-sectional analytical study of cases and controls was carried out to determine the family aggregation of arterial hypertension. The universe consisted of all (257) patients diagnosed with risk factors for high blood pressure; the sample was made up of 60 patients distributed in 30 hypertensive patients (cases) and 30 patients without diagnosis (controls). The information collected was processed using the Epi info statistical software. Results: In the group of cases, first-degree relatives with history of hypertension predominated (43.9 percent ). In the group of controls, second-degree relatives represented the 44.1 percent . Bad dietary habits were presented as the most frequent risk factor in both groups with 28.7 percent and 47.5 percent , respectively. Patients with positive family history (OR= 1.93, p = 0.008 95 percent CI = 1.18-3.16) and those suffering from obesity (OR = 9.03, 95 percent CI = 2.80-29.1 p = 0.0001) were at higher risk of developing hypertension. Conclusions: The existence of family aggregation of arterial hypertension was determined. People with first-degree positive family history of hypertension and presenting obesity were at higher risk of suffering from the disease(AU)


Asunto(s)
Humanos , Masculino , Femenino , Familia , Hipertensión/prevención & control , Anamnesis/estadística & datos numéricos , Estudios de Casos y Controles , Factores de Riesgo
10.
J Am Coll Cardiol ; 76(10): 1181-1192, 2020 09 08.
Artículo en Inglés | MEDLINE | ID: mdl-32883411

RESUMEN

BACKGROUND: Aortic dissection (AD) is a life-threatening emergency. However, the heritability and association of family history with late outcomes are unclear. OBJECTIVES: The purpose of this study was to evaluate the effect of family history of AD on the incidence and prognosis of AD and estimate the heritability and environmental contribution in AD in Taiwan. METHODS: Both cross-sectional and cohort studies were conducted using Taiwan National Health Insurance database. A registry parent-offspring relationship algorithm was used to reconstruct the genealogy of this population for heritability estimation. The cross-sectional study included 23,868 patients with a diagnosis of AD in 2015. The prevalence and adjusted relative risks (RRs) were evaluated, and the liability threshold model was used to examine the effects of heritability and environmental factors. Furthermore, a 1:10 propensity score-matched cohort comprising AD patients with or without a family history of AD was included to compare late outcomes in the cohort study. RESULTS: A family history of AD in first-degree relatives was associated with an RR of 6.82 (95% confidence interval [CI]: 5.12 to 9.07). The heritability of AD was estimated to be 57.0% for genetic factors, and 3.1% and 40.0% for shared and nonshared environmental factors, respectively. After excluding individuals with Marfan syndrome or bicuspid aortic valve, a family history of AD was associated with an RR of 6.56 (95% CI: 4.92 to 8.77) for AD. Furthermore, patients with AD and a family history of AD had a higher risk of later aortic surgery than those with AD without a family history (subdistribution hazard ratio: 1.40; 95% CI: 1.12 to 1.76). CONCLUSIONS: A family history of AD was a strong risk factor for AD. Furthermore, patients with AD with a family history of AD had a higher risk of later aortic surgery than those with no family history of AD.


Asunto(s)
Disección Aórtica/epidemiología , Disección Aórtica/genética , Anamnesis/métodos , Adulto , Anciano , Anciano de 80 o más Años , Disección Aórtica/diagnóstico , Estudios de Cohortes , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Taiwán/epidemiología , Resultado del Tratamiento , Adulto Joven
11.
12.
Zhonghua Yu Fang Yi Xue Za Zhi ; 54(8): 884-887, 2020 Aug 06.
Artículo en Chino | MEDLINE | ID: mdl-32842318

RESUMEN

To explore the relationship between parental hypertension history and hypertension in children and adolescents based on the relevant data of 6 049 children and adolescents aged 6 to 17 years old in Jinan city from September 2012 to September 2014. The results showed that the history of hypertension in parents was positively correlated with systolic blood pressure in children and adolescents, with the value of coefficient ß (95%CI) about 0.91 (0.23-1.59). Compared with children and adolescents whose parents had no history of hypertension, those with history of hypertension in one parent and both parents were more likely to develop hypertension, with OR values (95%CI) about 1.28 (1.01-1.61) and 2.24 (1.09-4.61), respectively. Therefore, it is suggested that prevention and intervention measures should be taken as soon as possible for children and adolescents whose parents have a history of hypertension.


Asunto(s)
Hipertensión/diagnóstico , Adolescente , Presión Sanguínea , Determinación de la Presión Sanguínea , Niño , Humanos , Padres
13.
J Clin Virol ; 127: 104360, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32305025

RESUMEN

BACKGROUND: Since December 2019, a new outbreak of the coronavirus disease 2019 (COVID-19) in Wuhan (Hubei, China) and rapidly spread throughout China, however, confirmed cases are still increasing worldwide. OBJECTIVES: To investigate the epidemiological history and initial clinical characteristics of 10 patients with family aggregation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in Western Chongqing, China. STUDY DESIGN: Ten patients positive for SARS-CoV-2 nucleic acid detection by real time Reverse Transcription-Polymerase Chain Reaction (RT-PCR), were collected from The People's Hospital of Dazu District, Chongqing. Epidemiological data and laboratory and imaging results were collected on the first day of admission, and analyzed based on the Diagnosis and Treatment Guideline for COVID-19 (5th edition, China). RESULTS: Of the 10 cases, case A had a history of a temporary stay in Wuhan and transmitted the virus to the others through family gathering, living together, and sharing vehicles. The average age was 56.5 years (± 11.16), six patients were males, and the incubation period was 2-14 days. Dry cough was the main symptom, followed by fever and fatigue. Most patients were clinically classified as ordinary-type, with three cases being severe-type. Chest computed tomography results were nonspecific, mainly with ground-glass attenuation and/or shadow images. Extensive lesion distribution was seen in severe cases. CD4+ lymphocyte counts were 61, 180, and 348 cells/uL in severe-type patients, respectively. Notably, viral nucleic acid values in nasopharyngeal swabs were lower (19, 25, and 26) than those of ordinary-type patients, suggesting a higher viral load. Neutrophil-lymphocyte ratio (NLR) was also higher in severe-type patients CONCLUSIONS: Initial examination results of lower CD4+ lymphocyte counts and RT-PCR-CT values coupled with higher NLR may indicate the severity of COVID-19 infection for these family clusters.


Asunto(s)
Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/transmisión , Salud de la Familia , Neumonía Viral/epidemiología , Neumonía Viral/transmisión , Anciano , Betacoronavirus , Recuento de Linfocito CD4 , COVID-19 , China/epidemiología , Infecciones por Coronavirus/diagnóstico , Tos/virología , Femenino , Fiebre/virología , Hospitalización , Humanos , Masculino , Persona de Mediana Edad , Neutrófilos/inmunología , Pandemias , Neumonía Viral/diagnóstico , SARS-CoV-2 , Tomografía Computarizada por Rayos X , Viaje , Carga Viral
14.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-788954

RESUMEN

Objective To investigate epidemic characteristics of a family aggregation COVID-19, and to provide scientific basis for prevention and control of family aggregation epidemic. Methods] Field epidemiological methods were used to investigate the cases and close contacts of a family aggregation COVID-19 in Y County, Chenzhou City, Hunan Province. Descriptive statistical analysis was used on epidemiological data . The 2019-nCoV nucleic acid was detected by real-time fluorescence quantitative RT-PCR. Results It was found that Ms. Deng was infected with COVID-19 and became the infectious source of the family aggregation epidemic , who had lived in Wuhan Hubei Province. Her boyfriend Mr. Cao became a second-generation case of COVID-19..Another two asymptomatic but infected persons were family members living with Ms.Deng . Conclusion COVID-19 easily spreads within families. The awareness of family members' protection, the education of new coronavirus pneumonia prevention and control in key groups should be strengthened to avoid the occurrence and spread of family aggregation epidemic.

15.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-876244

RESUMEN

Objective To explore the transmission pattern of corona virus disease 2019 (COVID-19) in the population by describing an imported case of novel coronavirus infected pneumonia epidemic situation. Methods Using the method of field investigation, epidemiological investigations were carried out for the imported COVID-19 case and the close contacts related to this epidemic cluster.Data were collected concerning the date of onset, isolation of the case and close contacts.The novel coronavirus nucleic acid was collected from the throat swabs of the case and close contacts.These samples were detected by real-time fluorescence quantitative RT-PCR. Results In this epidemic cluster, there was one confirmed case, that had been exposed to 36 people (12 in the family and 24 outside the family) and 2 in the family were nucleic acid positive and diagnosed as asymptomatic infections. Conclusion COVID-19 transmission proves to be mainly through respiratory droplets and close contact, which easily causes family aggregation epidemic.

16.
Rev. cuba. med. gen. integr ; 35(4): e881, oct.-dic. 2019. tab
Artículo en Español | LILACS, CUMED | ID: biblio-1093513

RESUMEN

Introducción: El cáncer de cuello uterino es una neoplasia maligna originada en el cuello del útero, principalmente en la zona de transformación donde confluyen células escamosas y glandulares. Objetivo: Determinar la existencia de agregación familiar para cáncer de cuello uterino. Métodos: Se realizó un estudio analítico transversal de casos y controles (estudio de agregación familiar) en pacientes atendidas en consulta de Oncología Ginecológica. Hospital General Universitario Vladimir Ilich Lenin, desde septiembre de 2017 a febrero de 2018. La muestra quedó conformada por 60 mujeres con el diagnóstico histológico de cáncer de cuello uterino (casos) y por 60 mujeres sin diagnóstico de enfermedad oncológica (controles). Ambos grupos fueron tomados de las áreas de salud pertenecientes al municipio Holguín y pareados por edad. Resultados: En el grupo casos existió una mayor frecuencia en el antecedente familiar para cáncer de cuello uterino, siendo más elevada para los familiares de 1er grado (31 familiares, 41,3 por ciento). El antecedente de infecciones vaginales se presentó como el factor de riesgo de mayor frecuencia, con 36,7 por ciento en el grupo casos y 37,1 por ciento en el grupo controles. Se determinó un riesgo aproximadamente 4 veces mayor de padecer cáncer de cuello uterino en aquellos individuos con historia familiar positiva de 1er grado, mientras que las mujeres con antecedentes de infecciones vaginales tenían 4,8 más riesgo de padecer cáncer de cuello uterino. Conclusiones: Mediante esta investigación se determinó que existe agregación familiar para cáncer de cuello uterino, mostraron un riesgo mayor de enfermar las pacientes con historia familiar positiva para la enfermedad y antecedentes de infecciones vaginales(AU)


Introduction: Cervical cancer is a malignant neoplasm originating in the cervix uteri, mainly in the transformation area where squamous and glandular cells converge. Objective: Determine the existence of family aggregation for cervical cancer. Methods: An analytical cross-sectional case-control family aggregation study was conducted of patients attending the Gynecologic Oncology Service at Vladimir Ilich Lenin General University Hospital from September 2017 to February 2018. The sample was 60 women with a histological diagnosis of cervical cancer (cases) and 60 women without an oncological diagnosis (controls). Both groups were recruited from the health areas in the municipality of Holguín and paired by age. Results: In the case group there was a greater frequency of family antecedents of cervical cancer, which was higher for first-degree relatives (31 relatives, 41.3 percent). A history of vaginal infection was the most common risk factor with 36.7 percent in the case group and 37.1 percent in the control group. It was determined that the risk for cervical cancer is approximately fourfold greater among individuals with a positive first-degree family history, whereas women with antecedents of vaginal infection were at 4.8 times greater risk for cervical cancer. Conclusions: The study determined the existence of family aggregation for cervical cancer, with a greater risk for the disease among women with a positive family history and antecedents of vaginal infection(AU)


Asunto(s)
Humanos , Femenino , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/epidemiología , Anamnesis , Estudios Transversales
17.
Neuron ; 98(4): 671-672, 2018 05 16.
Artículo en Inglés | MEDLINE | ID: mdl-29772195

RESUMEN

Rare variants cause Mendelian family aggregation in subsets of common diseases, and common variants may contribute to rare diseases. In this issue of Neuron, Gormley et al. (2018) report that the common variant burden in familial migraine is larger than in migraine of the general population.


Asunto(s)
Trastornos Migrañosos , Humanos
18.
Rev. cuba. med. gen. integr ; 33(3)jul.-set. 2017. tab
Artículo en Español | CUMED | ID: cum-74493

RESUMEN

Introducción: Actualmente, la hipertensión arterial es considerada como un trastorno poligénico y multifactorial, en el cual la interacción de múltiples genes entre sí y con el medio ambiente es importante. Objetivos: describir el comportamiento de la agregación familiar de la hipertensión arterial. Métodos: se realizó un estudio observacional, descriptivo, de corte transversal en el Policlínico Alex Urquiola en el periodo de enero a agosto de 2016. El universo de estudio estuvo constituido por los 54 pacientes y la muestra por 20, seleccionados a través de muestreo de tipo probabilístico aleatorio simple. Se les aplicó una encuesta estructurada y se realizó análisis informático de los resultados. Resultados: el grupo etario predominante fue el de 50 a 59 años (55 por ciento); mientras que el grupo menos representado fue el de 30 a 39 años (10 por ciento). En cuanto al grado de parentesco con los familiares hipertensos, predominaron los que tenían familiares de II grado (55 por ciento). El sedentarismo predominó como factor de riesgo. Conclusiones: se demostró agregación familiar para la hipertensión arterial en estas familias. Predominaron el grado de parentesco II y el factor de riesgo sedentarismo. Considerándose importante la prevención primaria en cada área de salud, para poder modificar factores de riesgo(AU)


Introduction: Hypertension is nowadays considered a polygenic and multifactorial disorder, in which the interaction of multiple genes with one other and with the environment is important. Objectives: To describe the behavior of family aggregation of arterial hypertension. Methods: An observational, descriptive, cross-sectional study was performed Alex Urquiola Polyclinic, from January to August 2016. The study universe consisted of 54 patients and the sample consisted of 20 patients, chosen by simple probabilistic randomization. They were given a structured survey, after which we carried out the computerized analysis of the results. Results: The predominant age group was 50-59 years (55 percent), while the least represented group corresponded to the ages 30-39 years (10 percent). As for the degree of kinship to hypertensive relatives, there was a predominance of those who had relatives of grade II (55 percent). The sedentary lifestyle predominated as a risk factor. Conclusions: Family aggregation for hypertension was proved in these families. The was a predominance of the second degree of relation and sedentary risk factors. We consider that primary prevention is important in each health area, for the modification of risk factors(AU)


Asunto(s)
Humanos , Familia/psicología , Hipertensión , Herencia Multifactorial/genética , Factores de Riesgo , Estudio Observacional , Epidemiología Descriptiva , Estudios Transversales
19.
Rev. cuba. med. gen. integr ; 33(3)jul.-set. 2017. tab
Artículo en Español | LILACS, CUMED | ID: biblio-901183

RESUMEN

Introducción: actualmente, la hipertensión arterial es considerada como un trastorno poligénico y multifactorial, en el cual la interacción de múltiples genes entre sí y con el medio ambiente es importante. Objetivos: describir el comportamiento de la agregación familiar de la hipertensión arterial. Métodos: se realizó un estudio observacional, descriptivo, de corte transversal en el Policlínico Alex Urquiola en el periodo de enero a agosto de 2016. El universo de estudio estuvo constituido por los 54 pacientes y la muestra por 20, seleccionados a través de muestreo de tipo probabilístico aleatorio simple. Se les aplicó una encuesta estructurada y se realizó análisis informático de los resultados. Resultados: el grupo etario predominante fue el de 50 a 59 años (55 por ciento); mientras que el grupo menos representado fue el de 30 a 39 años (10 por ciento). En cuanto al grado de parentesco con los familiares hipertensos, predominaron los que tenían familiares de II grado (55 por ciento). El sedentarismo predominó como factor de riesgo. Conclusiones: se demostró agregación familiar para la hipertensión arterial en estas familias. Predominaron el grado de parentesco II y el factor de riesgo sedentarismo. Considerándose importante la prevención primaria en cada área de salud, para poder modificar factores de riesgo(AU)


Introduction: Hypertension is nowadays considered a polygenic and multifactorial disorder, in which the interaction of multiple genes with one other and with the environment is important. Objectives: To describe the behavior of family aggregation of arterial hypertension. Methods: An observational, descriptive, cross-sectional study was performed Alex Urquiola Polyclinic, from January to August 2016. The study universe consisted of 54 patients and the sample consisted of 20 patients, chosen by simple probabilistic randomization. They were given a structured survey, after which we carried out the computerized analysis of the results. Results: The predominant age group was 50-59 years (55 percent), while the least represented group corresponded to the ages 30-39 years (10 percent). As for the degree of kinship to hypertensive relatives, there was a predominance of those who had relatives of grade II (55 percent). The sedentary lifestyle predominated as a risk factor. Conclusions: Family aggregation for hypertension was proved in these families. The was a predominance of the second degree of relation and sedentary risk factors. We consider that primary prevention is important in each health area, for the modification of risk factors(AU)


Asunto(s)
Humanos , Familia/psicología , Herencia Multifactorial/genética , Hipertensión , Epidemiología Descriptiva , Estudios Transversales , Factores de Riesgo , Estudio Observacional
20.
Am J Kidney Dis ; 70(5): 619-626, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28663061

RESUMEN

BACKGROUND: Aggregation of end-stage renal disease (ESRD) has been observed in families of European origin, as well as those of African origin. However, it is not well documented if this disease aggregates in Asian families. Furthermore, the contribution of genetic factors and shared environmental factors to family aggregation remains unclear. STUDY DESIGN: Population-based cross-sectional cohort study. SETTING & PARTICIPANTS: All 23,422,955 individuals registered in the Taiwan National Health Insurance Research Database in 2013. Among these, 47.45%, 57.45%, 47.29%, and 1.51% had a known parent, child, sibling, or twin, respectively. We identified 87,849 patients who had a diagnosis of ESRD. PREDICTOR: Family history of ESRD. OUTCOMES & MEASUREMENTS: ESRD and heritability defined as the proportion of phenotypic variance attributable to genetic factors. RESULTS: Having an affected first-degree relative with ESRD was associated with an adjusted relative risk of 2.46 (95% CI, 2.32-2.62). Relative risks were 96.38 (95% CI, 48.3-192.34) for twins of patients with ESRD, 2.15 (95% CI, 2.02-2.29) for parents, 2.78 (95% CI, 2.53-3.05) for offspring, 4.96 (95% CI, 4.19-5.88) for siblings, and 1.66 (95% CI, 1.54-1.78) for spouses without genetic similarities. Heritability in this study was 31.1% to 11.4% for shared environmental factors and 57.5% for nonshared environmental factors. LIMITATIONS: This was a registry database study and we did not have detailed information about clinical findings or the definite causes of ESRD. CONCLUSIONS: This whole population-based family study in Asia confirmed, in a Taiwanese population, that a family history of ESRD is a strong risk factor for this disease. Moderate heritability was noted and environmental factors were related to disease. Family history of ESRD is an important piece of clinical information.


Asunto(s)
Pueblo Asiatico/genética , Familia , Fallo Renal Crónico/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Pueblo Asiatico/estadística & datos numéricos , Niño , Preescolar , Estudios Transversales , Bases de Datos Factuales , Femenino , Predisposición Genética a la Enfermedad , Humanos , Lactante , Recién Nacido , Fallo Renal Crónico/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Riesgo , Taiwán/epidemiología , Adulto Joven
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