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1.
Emerg Microbes Infect ; 12(1): 2175593, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36881645

RESUMEN

Recent research have shown that influenza C virus (ICV) has a possible higher clinical impact than previously thought. But knowledge about ICV is limited compared with influenza A and B viruses, due to poor systematic surveillance and inability to propagate. Herein, a case infected with triple reassortant ICV was identified during an influenza A(H3N2) outbreak, which was the first report of ICV infection in mainland China. Phylogenetic analysis showed that this ICV was triple reassortant. Serological evidence revealed that the index case might be related to family-clustering infection. Therefore, it is essential to heighten surveillance for the prevalence and variation of ICV in China, during the COVID-19 pandemic.


Asunto(s)
COVID-19 , Gammainfluenzavirus , Gripe Humana , Humanos , Gripe Humana/epidemiología , Subtipo H3N2 del Virus de la Influenza A/genética , Pandemias , Filogenia , China/epidemiología , Brotes de Enfermedades
2.
Artículo en Inglés | MEDLINE | ID: mdl-36422730

RESUMEN

The siblings of children with mental disorders are more likely to experience mental health issues themselves, but there has been a lack of sibling studies on selective mutism (SM). The aim of this population-based study was to use national registers to examine associations between children with SM and diagnoses of various mental disorder in their siblings. All singleton children born in Finland from 1987 to 2009, and diagnosed with SM from 1998 to 2012, were identified from national health registers and matched with four controls by age and sex. Their biological siblings and parents were identified using national registries and the diagnostic information on the siblings of the subjects and controls was obtained. The final analyses comprised 658 children with SM and their 1661 siblings and 2092 controls with 4120 siblings. The analyses were conducted using generalized estimating equations. Mental disorders were more common among the siblings of the children with SM than among the siblings of the controls. The strongest associations were observed for childhood emotional disorders and autism spectrum disorders after the data were adjusted for covariates and comorbid diagnoses among SM subjects. The final model showed associations between SM and a wide range of disorders in siblings, with strongest associations with disorders that usually have their onset during childhood. Our finding showed that SM clustered with other mental disorders in siblings and this requires further research, especially the association between SM and autism spectrum disorders. Strong associations with childhood onset disorders may indicate shared etiologies.

3.
World J Gastroenterol ; 28(28): 3706-3719, 2022 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-36161052

RESUMEN

BACKGROUND: Helicobacter pylori (H. pylori) has characteristics of family cluster infection; however, its family-based infection status, related factors, and transmission pattern in central China, a high-risk area for H. pylori infection and gastric cancer, have not been evaluated. We investigated family-based H. pylori infection in healthy households to understand its infection status, related factors, and patterns of transmission for related disease prevention. AIM: To investigate family-based H. pylori infection status, related factors, and patterns of transmission in healthy households for related disease prevention. METHODS: Blood samples and survey questionnaires were collected from 282 families including 772 individuals. The recruited families were from 10 selected communities in the greater Zhengzhou area with different living standards, and the family members' general data, H. pylori infection status, related factors, and transmission pattern were analyzed. H. pylori infection was confirmed primarily by serum H. pylori antibody arrays; if patients previously underwent H. pylori eradication therapy, an additional 13C-urea breath test was performed to obtain their current infection status. Serum gastrin and pepsinogens (PGs) were also analyzed. RESULTS: Among the 772 individuals examined, H. pylori infection rate was 54.27%. These infected individuals were from 246 families, accounting for 87.23% of all 282 families examined, and 34.55% of these families were infected by the same strains. In 27.24% of infected families, all members were infected, and 68.66% of them were infected with type I strains. Among the 244 families that included both husband and wife, spouse co-infection rate was 34.84%, and in only 17.21% of these spouses, none were infected. The infection rate increased with duration of marriage, but annual household income, history of smoking, history of alcohol consumption, dining location, presence of gastrointestinal symptoms, and family history of gastric disease or GC did not affect infection rates; however, individuals who had a higher education level showed lower infection rates. The levels of gastrin-17, PGI, and PGII were significantly higher, and PGI/II ratio was significantly lower in H. pylori-infected groups than in H. pylori-negative groups. CONCLUSION: In our study sample from the general public of central China, H. pylori infection rate was 54.27%, but in 87.23% of healthy households, there was at least 1 H. pylori-infected person; in 27.24% of these infected families, all members were infected. Type I H. pylori was the dominant strain in this area. Individuals with a higher education level showed significantly lower infection rates; no other variables affected infection rates.


Asunto(s)
Infecciones por Helicobacter , Helicobacter pylori , Neoplasias Gástricas , Gastrinas , Infecciones por Helicobacter/diagnóstico , Infecciones por Helicobacter/epidemiología , Humanos , Pepsinógeno A , Pepsinógenos/uso terapéutico , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/epidemiología , Neoplasias Gástricas/prevención & control , Urea
4.
Med J Islam Repub Iran ; 36: 29, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35999931

RESUMEN

Background: Human infection affected by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been recognized as a global health concern. We report the epidemiological and clinical characteristics of patients with a familial cluster of SARS-CoV-2 from Qazvin province (located in the northwest of Iran). Methods: In this cross-sectional study, we enrolled 332 hospitalized patients that were confirmed SARS-CoV-2 diseases with laboratory-based (PT-PCR) test in Qazvin province, Iran. Having family infection transmission and subsequently, family clustering of SARS-COV-2 disease was assessed with the Generalized Estimating Equation model in patients. Results: Crude odds ratio estimates of creating family clustering of SARS-CoV-2 infection was 0.47 times [95% CI: 0.23, 0.98, p=0.045] less for female compared to the males; 2.26 [95% CI: 1.11, 4.58, p=0.024] and 2.69 [95% CI: 1.47, 4.93, p=0.001] for SARS-CoV-2 patients that had digestive and muscle pain in comparison with those did not this mentioned symptoms, respectively. 1.52 [95% CI: 1.05, 2.23, p=0.024] for patients with a longer hospitalization compared with patients that had shorter duration of hospitalization and adjusted odds ratio estimates were 2.13 [95% CI: 1.12, 4.03, p=0.020] for patients who receive public health services in comparison those did not receive public health services. Conclusion: Our findings confirm the person-to-person transmission of this novel coronavirus in family settings and hospitals, and the reports of infected travelers in other geographical regions. Major gaps in our knowledge about the potential factors in creating family clustering of SARS-CoV-2 infection, epidemiology, duration of human transmission and etc. need fulfillment by future studies.

5.
Hastings Cent Rep ; 51(2): 16-21, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33840101

RESUMEN

Harrowing stories reported in the media describe Covid-19 ravaging through families. This essay reports professional experiences of this phenomenon, family clustering, as encountered during the pandemic's spread across Southern California. We identify three ethical challenges following from it: Family clustering impedes shared decision-making by reducing available surrogate decision-makers for incapacitated patients, increases the emotional burdens of surrogate decision-makers, and exacerbates health disparities for and the suffering of people of color at increased likelihood of experiencing family clustering. We propose that, in response to these challenges, efforts in advance care planning be expanded, emotional support offered to surrogates and family members be increased, more robust state guidance be issued on ethical decision-making for unrepresented patients, ethics consultation be increased in the setting of conflict following from family clustering dynamics, and health care professionals pay more attention to systemic and personal racial biases and inequities that affect patient care and the surrogate experience.


Asunto(s)
Planificación Anticipada de Atención , COVID-19/epidemiología , Salud de la Familia , Familia/psicología , Salud de las Minorías , Atención al Paciente , Planificación Anticipada de Atención/ética , Planificación Anticipada de Atención/legislación & jurisprudencia , California/epidemiología , Análisis por Conglomerados , Toma de Decisiones Conjunta , Salud de la Familia/ética , Salud de la Familia/etnología , Disparidades en el Estado de Salud , Humanos , Salud de las Minorías/ética , Salud de las Minorías/etnología , Atención al Paciente/ética , Atención al Paciente/psicología , SARS-CoV-2 , Apoyo Social , Consentimiento por Terceros/ética
6.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-960736

RESUMEN

Background As a new type of vegetable production method, solar greenhouse has been widely promoted nationwide. The influence of solar greenhouse working on blood lipid cannot be ignored. Objective The aim of the study is to explore the relationship between solar greenhouse working and blood lipid and family clustering. Methods A total of 744 solar greenhouse workers in northwestern China were selected as the greenhouse group, and 231 general open field farmers in the same area were selected as the non-greenhouse group. The levels of serum total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDLC), and low-density lipoprotein cholesterol (LDLC) in the two groups were detected. Dyslipidemia was determined by a two-classification criteria in the national guideline of 2007. Multiple logistic regression model and multilevel multiple linear regression model were used to explore the relationship of blood lipid with solar greenhouse working, and its family clustering. Results The number of dyslipidemia cases in the greenhouse group and non-greenhouse group was 142 (19.1%) and 43 (18.6%), respectively, and the difference was not statistically significant (P>0.05). The results of multiple logistic regression analysis showed that increasing age (OR=1.019, 95% CI: 1.001-1.038) and increased BMI (OR=1.162, 95% CI: 1.106-1.220) were related to elevated risk of dyslipidemia (all Ps<0.05). The results of multilevel multiple linear regression model showed that the changes of TC, HDLC, and TG/HDLC had family clustering (b=0.238, 95%CI: 0.132-0.430; b=0.044, 95%CI: 0.033-0.065; b=1.003, 95%CI: 0.947-1.059) (all Ps<0.05). Conclusion Solar greenhouse working does not significantly increase the incidence of dyslipidemia, but the levels of TC, HDLC, and TG/HDLC levels in the solar greenhouse workers have family clusters.

7.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(5): 629-633, 2020 May 10.
Artículo en Chino | MEDLINE | ID: mdl-32149484

RESUMEN

Objective: To investigate the epidemiological characteristics of a family clustering of COVID-19. Methods: Field epidemiological survey was conducted. Results: Case 1 of the long-term residents from Hubei province was the source of infection of this family clustering. There were 6 cases (from case 2 to case 7) infected in the whole incubation period. The incubation period was more than 14 days for 3 of the second-generation cases. Routes of transmission included respiratory droplets (from case 1 transmitted to case 6, from case 1 to her family members) and close contact (from case 1 to other cases in her family). All the age groups were generally susceptible, while elderly were easier to progress to critically ill. Besides respiratory symptoms, there were also gastrointestinal symptoms, of which diarrhea was the most common one. Conclusions: Family clustering had been an important part for COVID-19 cases.


Asunto(s)
Infecciones por Coronavirus/epidemiología , Familia , Neumonía Viral/epidemiología , COVID-19 , China/epidemiología , Análisis por Conglomerados , Humanos , Pandemias
8.
Chinese Journal of Epidemiology ; (12): 629-633, 2020.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-821111

RESUMEN

Objective To investigate the epidemiological characteristics of a family clustering of COVID-19. Methods Field epidemiological survey was conducted. Result Case 1 of the long-term residents from Hubei province was the source of infection of this family clustering. There were 6 cases (from case 2 to case 7) infected in the whole incubation period. The incubation period was more than 14 days for 3 of the second-generation cases. Routes of transmission include respiratory droplets (from case 1 transmitted to case 6, from case 1 to her family members) and closecontact (from case 1 to other cases in her family). All the age groups were generally susceptible, while elderly were easier to progress to critically ill. Besides respiratory symptoms, there were also gastrointestinal symptoms, of which diarrhea was the most common one. Conclusion Family clustering had been an important part for COVID-19 cases.

9.
Rev. Soc. Bras. Med. Trop ; 53: e20190560, 2020. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1101445

RESUMEN

Abstract INTRODUCTION: Congenital transmission (CT) of Trypanosoma cruzi has led to globalization of Chagas disease and its growing relevance as a public health problem. Although the occurrence of CT has been associated with several factors, its mechanisms are still unknown. This study aimed to analyze the geographical and familiar variables of mothers and their association with CT of Chagas disease in a population living in non-endemic areas of Argentina for the last decades. METHODS: We developed a retrospective cohort study in a sample of 2120 mother-child pairs who attended three reference centers in the cities of Buenos Aires, Santa Fe, and Salta between 2002 and 2015. RESULTS: The highest CT rates were observed in children born to Argentinean mothers (10.7%) and in children born to mothers from Buenos Aires (11.7%). Considering the areas of origin of the mothers, those from areas of null-low risk for vector-borne infection had higher CT rates than those from areas of medium-high risk (11.1% vs 8.2%). We also observed a significant intra-familiar "cluster effect," with CT rates of 35.9% in children with an infected sibling, compared to 8.2% in children without infected siblings (RR=4.4 95% CI 2.3-8.4). CONCLUSIONS: The associations observed suggest a higher CT rate in children born to mothers who acquired the infection congenitally, with familiar antecedents, and from areas without the presence of vectors. These observations are considered new epidemiological evidence about Chagas disease in a contemporary urban population, which may contribute to the study of CT and may also be an interesting finding for healthcare professionals.


Asunto(s)
Humanos , Animales , Masculino , Femenino , Embarazo , Recién Nacido , Adolescente , Adulto , Adulto Joven , Enfermedad de Chagas/transmisión , Enfermedad de Chagas/epidemiología , Complicaciones Parasitarias del Embarazo/epidemiología , Transmisión Vertical de Enfermedad Infecciosa/estadística & datos numéricos , Argentina/epidemiología , Población Urbana , Estudios Retrospectivos , Factores de Riesgo , Persona de Mediana Edad
10.
Am J Hum Genet ; 105(2): 364-372, 2019 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-31327509

RESUMEN

Vitiligo is an autoimmune disease that results in patches of depigmented skin and hair. Previous genome-wide association studies (GWASs) of vitiligo have identified 50 susceptibility loci. Variants at the associated loci are generally common and have individually small effects on risk. Most vitiligo cases are "simplex," where there is no family history of vitiligo, though occasional family clustering of vitiligo occurs, and some "multiplex" families report numerous close affected relatives. Here, we investigate whether simplex and multiplex vitiligo comprise different disease subtypes with different underlying genetic etiologies. We developed and compared the performance of several different vitiligo polygenic risk scores derived from GWAS data. By using the best-performing risk score, we find increased polygenic burden of risk alleles identified by GWAS in multiplex vitiligo cases relative to simplex cases. We additionally find evidence of polygenic transmission of common, low-effect-size risk alleles within multiplex-vitiligo-affected families. Our findings strongly suggest that family clustering of vitiligo involves a high burden of the same common, low-effect-size variants that are relevant in simplex cases. We furthermore find that a variant within the major histocompatibility complex (MHC) class II region contributes disproportionately more to risk in multiplex vitiligo cases than in simplex cases, supporting a special role for adaptive immune triggering in the etiology of multiplex cases. We suggest that genetic risk scores can be a useful tool in analyzing the genetic architecture of clinical disease subtypes and identifying subjects with unusual etiologies for further investigation.


Asunto(s)
Enfermedades Autoinmunes/patología , Genes/genética , Predisposición Genética a la Enfermedad , Herencia Multifactorial , Polimorfismo de Nucleótido Simple , Vitíligo/patología , Alelos , Enfermedades Autoinmunes/genética , Estudios de Casos y Controles , Familia , Femenino , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Masculino , Factores de Riesgo , Vitíligo/genética
11.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-837918

RESUMEN

Objective To explore the infection status of hepatitis B virus (HBV) in families of hepatitis B surface antigen (HbsAg) positive students and the mutations of HBV related to hepatocellular carcinoma, so as to provide theoretic evidence for the prevention and control of HBV infection and hepatocellular carcinoma. Methods A total of 1 611 students were investigated; they were from 60 classes of 15 schools and kindergartens in Pudong New Area, Shanghai, China, and 8 HBsAg positive students were found. These 8 students and their 18 first-degree relatives were enrolled in this study. Venous blood samples were collected to test the 5 markers of hepatitis B using enzyme linked immunosorbent assay. HBV DNA was detected by fluorescent PCR. HBV genome, basic core promoter (BCP) region and PreS region were detected using multiplex-PCR and nested PCR combined with cloning and sequencing. Results The positive rates of HBsAg and HBcAb in the first-degree relatives were 33.3% (6/18) and 38.9% (7/18), respectively. Both HBsAg and HBcAb positive rates in the mothers were 71.4% (5/7), which were significantly higher than those of the other first-degree relatives (P0.05). Seven of 8 families (87.5%) had 2 or more members infected or had ever infected with HBV. Fourteen of 26 members in 8 families had positive HBsAg, with a positive rate of 53.8%. A total of 4 groups of mothers and children received gene detection. Three groups of them had type C HBV gene, and 1 group had type C in mother and type B in child. Among the hepatocellular carcinoma-related HBV mutations, the mutation frequency of hot spots in BCP region was lower in the children than that in the mothers. Eight HBV mutation sites of type C in PreS region were found in both the mothers and children, and none of the remaining key sites were found in the children. Conclusion There is obvious family clustering of HBV infection, suggesting that HBV infection of students is more likely to be transmitted through mother-to-child transmission, but there are other ways of infection, such as acquired blood. The evolution degree of HBV gene in children is lower than that in mothers, which conforms to the rule of HBV evolution.

12.
BMJ Open ; 8(2): e018968, 2018 02 21.
Artículo en Inglés | MEDLINE | ID: mdl-29467133

RESUMEN

OBJECTIVES: Spousal clustering of cancer warrants attention. Whether the common environment or high-age vulnerability determines cancer clustering is unclear. The risk of clustering in couples versus non-couples is undetermined. The time to cancer clustering after the first cancer diagnosis is yet to be reported. This study investigated cancer clustering over time among couples by using nationwide data. METHODS: A cohort of 5643 married couples in the 2002-2013 Taiwan National Health Insurance Research Database was identified and randomly matched with 5643 non-couple pairs through dual propensity score matching. Factors associated with clustering (both spouses with tumours) were analysed by using the Cox proportional hazard model. RESULTS: Propensity-matched analysis revealed that the risk of clustering of all tumours among couples (13.70%) was significantly higher than that among non-couples (11.84%) (OR=1.182, 95% CI 1.058 to 1.321, P=0.0031). The median time to clustering of all tumours and of malignant tumours was 2.92 and 2.32 years, respectively. Risk characteristics associated with clustering included high age and comorbidity. CONCLUSIONS: Shared environmental factors among spouses might be linked to a high incidence of cancer clustering. Cancer incidence in one spouse may signal cancer vulnerability in the other spouse. Promoting family-oriented cancer care in vulnerable families and preventing shared lifestyle risk factors for cancer are suggested.


Asunto(s)
Neoplasias/epidemiología , Esposos/estadística & datos numéricos , Adolescente , Adulto , Distribución por Edad , Anciano , Estudios de Casos y Controles , Análisis por Conglomerados , Estudios de Cohortes , Comorbilidad , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Puntaje de Propensión , Modelos de Riesgos Proporcionales , Factores de Riesgo , Distribución por Sexo , Taiwán/epidemiología , Factores de Tiempo , Adulto Joven
13.
Open Biol ; 7(9)2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-28878041

RESUMEN

Solute carriers (SLCs) are vital as they are responsible for a major part of the molecular transport over lipid bilayers. At present, there are 430 identified SLCs, of which 28 are called atypical SLCs of major facilitator superfamily (MFS) type. These are MFSD1, 2A, 2B, 3, 4A, 4B, 5, 6, 6 L, 7, 8, 9, 10, 11, 12, 13A, 14A and 14B; SV2A, SV2B and SV2C; SVOP and SVOPL; SPNS1, SPNS2 and SPNS3; and UNC93A and UNC93B1. We studied their fundamental properties, and we also included CLN3, an atypical SLC not yet belonging to any protein family (Pfam) clan, because its involvement in the same neuronal degenerative disorders as MFSD8. With phylogenetic analyses and bioinformatic sequence comparisons, the proteins were divided into 15 families, denoted atypical MFS transporter families (AMTF1-15). Hidden Markov models were used to identify orthologues from human to Drosophila melanogaster and Caenorhabditis elegans Topology predictions revealed 12 transmembrane segments (for all except CLN3), corresponding to the common MFS structure. With single-cell RNA sequencing and in situ proximity ligation assay on brain cells, co-expressions of several atypical SLCs were identified. Finally, the transcription levels of all genes were analysed in the hypothalamic N25/2 cell line after complete amino acid starvation, showing altered expression levels for several atypical SLCs.


Asunto(s)
Evolución Molecular , Proteínas de Transporte de Membrana/química , Proteínas de Transporte de Membrana/clasificación , Neuronas/metabolismo , Secuencia de Aminoácidos , Animales , Transporte Biológico , Caenorhabditis elegans/genética , Caenorhabditis elegans/metabolismo , Pollos/genética , Pollos/metabolismo , Secuencia Conservada , Drosophila melanogaster/genética , Drosophila melanogaster/metabolismo , Humanos , Hipotálamo/citología , Hipotálamo/metabolismo , Cadenas de Markov , Proteínas de Transporte de Membrana/genética , Proteínas de Transporte de Membrana/metabolismo , Ratones , Neuronas/citología , Filogenia , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/metabolismo , Alineación de Secuencia , Análisis de Secuencia de ARN , Homología de Secuencia de Aminoácido , Análisis de la Célula Individual , Transcripción Genética , Pez Cebra/genética , Pez Cebra/metabolismo
14.
J Allergy Clin Immunol ; 140(4): 1138-1143, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28192145

RESUMEN

BACKGROUND: Prior familial clustering studies have observed an increased risk of eosinophilic esophagitis (EoE) mostly among first-degree relatives, suggesting a genetic contribution to EoE, and twin studies have suggested a powerful contribution from environmental factors. OBJECTIVE: This study sought to clarify the contribution of genetic factors to EoE through estimation of familial aggregation and risk of EoE in extended relatives. METHODS: The Utah Population Database, a population-based genealogy resource linked to electronic medical records for health care systems across the state of Utah, was used to identify EoE cases and age, sex, and birthplace-matched controls at a 5:1 ratio. Logistic regression was used to determine the odds of EoE among relatives of EoE probands compared with the odds of EoE among relatives of controls. RESULTS: There were 4,423 EoE cases and 24,322 controls. The population-attributable risk of EoE was 31% (95% CI, 28% to 34%), suggesting a relatively strong genetic contribution. Risks of EoE were significantly increased among first-degree relatives (odds ratio [OR], 7.19; 95% CI, 5.65-9.14), particularly first-degree relatives of EoE cases diagnosed <18 years of age (OR, 16.3; 95% CI, 9.4-28.3); second-degree relatives (OR, 1.99; 95% CI, 1.49-2.65); and first cousins (OR, 1.35; 95% CI, 1.03-1.77), providing evidence of a genetic contribution. However, spouses of EoE probands were observed to be at increased risk of EoE (OR, 2.86; 95% CI, 1.31-6.25), suggesting either positive assortative mating or a shared environmental contribution to EoE. CONCLUSIONS: This study supports a significant genetic contribution to EoE as evidenced by increased risk of EoE in distant relatives.


Asunto(s)
Esofagitis Eosinofílica/genética , Familia , Familia de Multigenes , Linaje , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Interacción Gen-Ambiente , Genealogía y Heráldica , Humanos , Masculino , Anamnesis , Persona de Mediana Edad , Familia de Multigenes/genética , Polimorfismo Genético , Grupos de Población , Riesgo , Utah , Adulto Joven
15.
Proteins ; 84(7): 869-74, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27018773

RESUMEN

ScaffoldSeq is software designed for the numerous applications-including directed evolution analysis-in which a user generates a population of DNA sequences encoding for partially diverse proteins with related functions and would like to characterize the single site and pairwise amino acid frequencies across the population. A common scenario for enzyme maturation, antibody screening, and alternative scaffold engineering involves naïve and evolved populations that contain diversified regions, varying in both sequence and length, within a conserved framework. Analyzing the diversified regions of such populations is facilitated by high-throughput sequencing platforms; however, length variability within these regions (e.g., antibody CDRs) encumbers the alignment process. To overcome this challenge, the ScaffoldSeq algorithm takes advantage of conserved framework sequences to quickly identify diverse regions. Beyond this, unintended biases in sequence frequency are generated throughout the experimental workflow required to evolve and isolate clones of interest prior to DNA sequencing. ScaffoldSeq software uniquely handles this issue by providing tools to quantify and remove background sequences, cluster similar protein families, and dampen the impact of dominant clones. The software produces graphical and tabular summaries for each region of interest, allowing users to evaluate diversity in a site-specific manner as well as identify epistatic pairwise interactions. The code and detailed information are freely available at http://research.cems.umn.edu/hackel. Proteins 2016; 84:869-874. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Evolución Molecular Dirigida , Proteínas/genética , Análisis de Secuencia de ADN , Programas Informáticos , Algoritmos , Animales , Análisis por Conglomerados , Evolución Molecular Dirigida/métodos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Proteínas/química , Alineación de Secuencia/métodos , Análisis de Secuencia de ADN/métodos
16.
Oman Med J ; 29(1): 51-4, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24498483

RESUMEN

OBJECTIVE: The aim of this study was to screen Omani individuals for the familial aggregation of type 2 diabetes mellitus. METHODS: A random cohort of 1182 Omani individuals visiting the Family Medicine Clinic at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, for regular medical checkup, aged ≥40 years, were sampled. Patients were categorized into three groups: (1) individuals who claim not to have diabetes and had no family history of diabetes; (2) individuals who claim not to have diabetes but had family history of diabetes; (3) individuals with diabetes. Only 16% of these Omani individuals had no diabetes and no family history of diabetes. Another separate random cohort of 234 Omani type 2 diabetes mellitus patients, from the Diabetes Clinic at SQUH, were interviewed and questioned about their family history of type 2 diabetes mellitus. RESULTS: Ninety five percent of the patients had a family history of diabetes. Eighty percent had first degree relatives with diabetes and 46% had second degree relatives with diabetes. At least one parent with diabetes was reported among 55% of these diabetics, while maternal diabetes (55%) was found to be higher than paternal diabetes (47%). However, only 15% had both parents with diabetes. Furthermore, almost half of the 234 diabetics were having at least one of the following relatives with diabetes: brother, sister, aunt or an uncle. CONCLUSION: The findings of this study confirm familial aggregation of diabetes among the Omani population. Compared to other populations, familial aggregation of type 2 diabetes mellitus among Omanis is relatively very high, and is perhaps due to the very high degree of consanguinity among Omanis. Since almost everyone seems to have a genetic predisposition to diabetes, the dramatic lifestyle changes over the past 25 years, could tip the population into an epidemic of type 2 diabetes mellitus.

17.
J Med Virol ; 85(11): 1893-9, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23934703

RESUMEN

Hepatitis B virus (HBV) infection and its associated liver diseases have characteristics of familial clustering in China. However, the reasons for this are not understood fully. To address this issue, the prevalence HBV infection and the characteristics of unfavorable prognoses in clustering of infection in families in northwest China were investigated. Families with clustering of infection and unfavorable prognoses were enrolled, and general information and serum samples were collected. The clinical features and sequelae of HBV infection were compared among the blood relatives (including the first-, second-, and third-degree blood relatives) and spouses using the chi-square test or Fisher's exact test. A total of 102 clusterings of infection families with unfavorable prognoses were interviewed. In the first-, second-, and third-degree blood relatives and spouses, the prevalences of cirrhosis of the liver were 29.2%, 11.9%, and 8.7%, respectively, while those of hepatocellular carcinoma (HCC) were 21.8%, 1.4%, and 4.3%, respectively (P<0.05). The mean ages of the onset of cirrhosis of the liver in the first-, second-, and third-degree blood relatives and spouses were 57 ± 9.91, 47 ± 9.96, 38 ± 10.35, and 57 ± 8.49 years, respectively, while the mean ages of the onset of HCC were 60 ± 7.92, 49 ± 8.57, 41 ± 3.54, and 50 ± 0 years, respectively, (P<0.05). The first-, second-, and third-degree blood relatives from clustering of infection in families with unfavorable prognoses had prevalences of cirrhosis or HCC in descending order of relationship. The findings suggest that genetic factors may be associated with a familial tendency for cirrhosis of the liver and HCC.


Asunto(s)
Análisis por Conglomerados , Salud de la Familia , Hepatitis B Crónica/epidemiología , Adolescente , Anciano , Carcinoma Hepatocelular/epidemiología , Carcinoma Hepatocelular/genética , Niño , China/epidemiología , Femenino , Predisposición Genética a la Enfermedad , Hepatitis B Crónica/complicaciones , Hepatitis B Crónica/genética , Humanos , Cirrosis Hepática/complicaciones , Cirrosis Hepática/epidemiología , Cirrosis Hepática/genética , Neoplasias Hepáticas/epidemiología , Neoplasias Hepáticas/genética , Masculino , Persona de Mediana Edad , Prevalencia , Pronóstico , Adulto Joven
18.
Chinese Journal of Epidemiology ; (12): 205-209, 2013.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-327642

RESUMEN

Objective To understand the status of HBV infection among family members with HBV infected persons in Shanghai and to probe the determinants of HBV infection so as to provide evidence for improving the related strategies on hepatitis B prevention and control.Methods Three hundred and four hepatitis B patients together with 288 HBsAg carriers from 6 districts in Shanghai were randomly sampled in 2010.All the said persons and their families members were asked to fill in questionnaires and to be drawn 5 ml venous blood for HBV serologic indicators detection.The subjects were divided into case group and control group according to their status of HBV infection.Univariate analysis and multivariate logistic regression analysis were carried out to identify the determinants of HBV infection among family members.Results Among 1485 subjects from 592 households,a total of 1137 persons were infected by HBV,with the overall infection rate as 76.57%.Fifteen infection modes were noticed,in which double positive of anti-HBs and anti-HBc,triple positive of HBsAg,anti-HBe and anti-HBc,together with triple positive of anti-HBs,anti-HBe and anti-HBc accounted for the top three,with the proportions as 30.69%,26.65% and 10.03% respectively.The differences between the years of carrying HBV and the proportions of numbers that carrying HBV in families,were not statistically significant.The infection rate among children (42.86%) was significantly lower than that of their parents (87.54%)(P<0.001).Results from both univariate and multivariate analysis showed that gender,age,utensil sharing,histories of receiving hepatitis B vaccines and dental outpatient service were determinants of HBV infection among families members (P<0.05),with OR values being 9.009 for persons without immunization history of hepatitis B vaccines,3.817 for persons above 40 years old and 2.283 for persons of 21-40 years old,2.222 for families members who sharing utensil,2.124 for persons with history of dental outpatient service and 1.339 for male members,respectively.Conclusion Family clustering of HBV infection in was seen in Shanghai.In order to reduce the number of HBV infection in families,hepatitis B vaccination program need to be carried out.Healthy lifestyle should be emphasized to prevent HBV infection due to close contact.The risk of iatrogenic HBV transmission should also be prevented.

19.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-839700

RESUMEN

Objective To investigate the distribution of HBV genotypes and the mutations in basic core gene promoter (BCP), pre C/C region in clustering family patients infected with chronic hepatitis B (CHB), and to discuss the related clinical significance. Methods A total of 98 CHB patients from 38 family with family clustering features were included in the experimental group, and 110 CHB patients without family clustering features were taken as controls. HBV genotypes were detected in CHB patients by nested PCR with genotype-specific primers. The mutations in BCP and pre C/C region were detected using PCR. Serum ALT, TBIL, ALB, HBV-DNA levels, and hepatitis B antigen and antibody were all examined. Results HBV genotype C was the predominant genotype (52. 9%, 36/68) in group of parents and their children, and genotype B was the predominant genotype in group of other infected family members (73. 3%, 22/30) and control group (67. 3%, 74/110); the frequency of HBV genotype C in group of parents and their children was significantly higher than other infected family members and control group (P<0. 01). There were only a few B+C and B+D mixed types. On the whole, HBV genotypes from the same family were basically the same. The frequency of BCP A1762T/G1764A mutations in clustering family CHB patients with genotype C (61. 9%, 26/42) was significantly higher than that in CHB patients with genotype C without family clustering features (35. 7%, 10/28) (P<0. 05), so was the HBV-DNA level (P<0. 01). Conclusion HBV genotype in clustering family is probably associated with the transmission route of virus. HBV genotype C may be easier to transmit from parents to their children. Genotype C and BCP A1762T/G1764A mutations may be associated with the development of clustering family.

20.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-554357

RESUMEN

Objective To investigate the family clustering of Toxoplasma infections. Methods The enzyme-linked immunosorbent assay (ELISA) and indirect hemagglutination test (IHA) were performed to detect antibodies to To.xoplasma in sera of 1 436 people from 487 families with clinical cases. The data were analysed with G test of homogeneous in statistical binomial distribution. Results Three hundred and forty-two people of 237 families showed sera positive, with rates of 48.7% of family and 23.8% of population. A saliva trophozoite in one of 30 rats was found and so were two typical saliva parasites in one of 10 cases, Conclusion There is a significant evidence of family clustering of Toxoplasma infections (T=6.48,P

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