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1.
Diagnostics (Basel) ; 14(4)2024 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-38396443

RESUMO

Introduction: Polycystic ovary syndrome (PCOS) is a multifactorial, heterogeneous endocrine and metabolic disorder in women. Due to its association with the menstrual cycle and fertility disorders, the importance of this problem is emphasized especially in patients of reproductive age. Based on a number of analyses, the effect of PCOS on altering the diversity of the microbiome (e.g., intestinal or vaginal) is suggested. Vaginal dysbiosis can result in BV (bacterial vaginosis). The purpose of this study was to assess the prevalence of BV in patients with PCOS, as well as to determine the most reliable diagnostic factors. Material and Methods: Retrospective analysis of microbiological findings (2018-2022) of PCOS patients (n = 594) of reproductive age. The present analysis focused on the results of patients with PCOS (n = 380) and vaginal discharge with pH ≥ 4.4 and suspected BV. Biological material was a vaginal swab/vaginal secretion. The most commonly used routine methods for assessing BV were the Amsel analysis and the Nugent scoring system. Results: Patients with PCOS and vaginal fluid pH ≥ 4.4 and suspected BV (n = 380) accounted for 64% of all PCOS patients (n = 594). The relationship between pH and detection of "clue cells" showed significant dependency and increased with leukocytes. The pH measurement also showed dependency on high G. vaginalis counts. In addition, the elimination of lactic acid bacteria (LAB) in vaginal secretions was associated with an increase in the number of leukocytes with increasing pH values. A marked increase in G. vaginalis was found in more than half (56.8%) of PCOS women (n = 380) with suspected BV. No dependency was observed between the absence of LAB and the diagnosis of BV on a positive G. vaginalis culture. Of the n = 380 patients with PCOS, 191 (50%) had a Nugent score ≥ 7 positive for BV. No dependency was observed between the number of patients with Candida sp. in vaginal secretions and pH, BV (with clue cells), or elevated leukocyte levels. The LRM was adjusted and the statistical model represented by the following formula was obtained: log(p/(1 - p)) = -1.18 + 1.24 × Group4.6 + 1.08 × Group4.8 + 1.66 × Group5.4. Conclusions: Based on the present analysis, BV appears to be more common in patients with PCOS than in the non-PCOS population. Chronic inflammation in PCOS patients and abnormalities in the vaginal microbiome may predispose to the development of BV. In women with PCOS, BV may be one of the unrecognized causes of infertility or complications of pregnancy. Despite the potential link between PCOS and the development of BV, the extent to which this syndrome contributes to vaginal dysbiosis and reproductive complications requires further study.

3.
J Clin Med ; 12(4)2023 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-36836184

RESUMO

Infestation with Demodex mites is a common occurrence, especially in adults and the elderly. More recent attention has been paid to the presence of Demodex spp. mites in children, even ones without comorbidities. It causes both dermatological and ophthalmological problems. The presence of Demodex spp. is often asymptomatic, thus it is suggested to include parasitological investigation tests in dermatological diagnostics, in addition to bacteriological analysis. Literature reports show that Demodex spp. are related to the pathogenesis of numerous dermatoses, including rosacea or demodicosis gravis, and common eye pathologies reported by patients such as dry eye syndrome or ocular surface inflammatory conditions, such as blepharitis, chalazia, Meibomian gland dysfunction, and keratitis. Treatment of patients is a challenge and is usually prolonged, therefore it is important to carefully diagnose and properly select the therapy regimen for the treatment to be successful, and with minimal side effects, especially for young patients. Apart from the use of essential oils, research is ongoing for new alternative preparations active against Demodex sp. Our review was focused on the analysis of the current literature data on the available agents in the treatment of demodicosis in adults and children.

4.
Nat Commun ; 13(1): 6842, 2022 11 11.
Artigo em Inglês | MEDLINE | ID: mdl-36369175

RESUMO

Helicobacter pylori lives in the human stomach and has a population structure resembling that of its host. However, H. pylori from Europe and the Middle East trace substantially more ancestry from modern African populations than the humans that carry them. Here, we use a collection of Afro-Eurasian H. pylori genomes to show that this African ancestry is due to at least three distinct admixture events. H. pylori from East Asia, which have undergone little admixture, have accumulated many more non-synonymous mutations than African strains. European and Middle Eastern bacteria have elevated African ancestry at the sites of these mutations, implying selection to remove them during admixture. Simulations show that population fitness can be restored after bottlenecks by migration and subsequent admixture of small numbers of bacteria from non-bottlenecked populations. We conclude that recent spread of African DNA has been driven by deleterious mutations accumulated during the original out-of-Africa bottleneck.


Assuntos
Infecções por Helicobacter , Helicobacter pylori , Humanos , Helicobacter pylori/genética , Infecções por Helicobacter/microbiologia , População Negra/genética , África , Mutação
5.
Diagnostics (Basel) ; 12(9)2022 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-36140507

RESUMO

Easy and robust antimicrobial susceptibility testing (AST) methods are essential in clinical bacteriology laboratories (CBL) in low-resource settings (LRS). We evaluated the Beckman Coulter MicroScan lyophilized broth microdilution panel designed to support Médecins Sans Frontières (MSF) CBL activity in difficult settings, in particular with the Mini-Lab. We evaluated the custom-designed MSF MicroScan Gram-pos microplate (MICPOS1) for Staphylococcus and Enterococcus species, MSF MicroScan Gram-neg microplate (MICNEG1) for Gram-negative bacilli, and MSF MicroScan Fastidious microplate (MICFAST1) for Streptococci and Haemophilus species using 387 isolates from routine CBLs from LRS against the reference methods. Results showed that, for all selected antibiotics on the three panels, the proportion of the category agreement was above 90% and the proportion of major and very major errors was below 3%, as per ISO standards. The use of the Prompt inoculation system was found to increase the MIC and the major error rate for some antibiotics when testing Staphylococci. The readability of the manufacturer's user manual was considered challenging for low-skilled staff. The inoculations and readings of the panels were estimated as easy to use. In conclusion, the three MSF MicroScan MIC panels performed well against clinical isolates from LRS and provided a convenient, robust, and standardized AST method for use in CBL in LRS.

6.
Nat Commun ; 13(1): 3215, 2022 06 09.
Artigo em Inglês | MEDLINE | ID: mdl-35680857

RESUMO

The effectiveness of the inactivated BBIBP-CorV vaccine against severe COVID-19 outcomes (hospitalization, critical care admission and death due to COVID-19) and its long-term effectiveness have not been well characterized among the general population. We conducted a retrospective cohort study using electronic health records of 3,147,869 adults, of which 1,099,886 vaccinated individuals were matched, in a 1:1 ratio to 1,099,886 unvaccinated persons. A Cox-proportional hazard model with time varying coefficients was used to assess the vaccine effectiveness adjusting for age, sex, comorbidity, ethnicity, and the calendar month of entry into the study. Our analysis showed that the effectiveness was 79.6% (95% CI, 77.7 to 81.3) against hospitalization, 86% (95% CI, 82.2 to 89.0) against critical care admission, and 84.1% (95% CI, 70.8 to 91.3) against death due to COVID-19. The effectiveness against these severe outcomes declined over time indicating the need for booster doses to increase protection against severe COVID-19 outcomes.


Assuntos
COVID-19 , Adulto , COVID-19/epidemiologia , COVID-19/prevenção & controle , Humanos , Estudos Retrospectivos , Emirados Árabes Unidos/epidemiologia
7.
Sci Rep ; 12(1): 490, 2022 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-35017530

RESUMO

Based on the findings from the Phase III clinical trials of inactivated SARS COV-2 Vaccine, (BBIBP-CORV) emergency use authorization (EUA) was granted for the vaccine to frontline workers in the UAE. A prospective cohort study was conducted among frontline workers to estimate the incidence rate and risk of symptomatic COVID-19 infection 14 days after the second dose of inoculation with BBIBP-CORV inactivated vaccine. Those who received two doses of the BBIBP-CORV vaccine in the period from 14th of September 2020 (first dose) to 21st of December 2020 (second dose) were followed up for COVID-19 infections. 11,322 individuals who received the two-dose BBIBP-CORV vaccine were included and were followed up post the second dose plus fourteen days. The incidence rate of symptomatic infection was 0.08 per 1000-person days (95% CI 0.07, 0.10). The estimated absolute risk of developing symptomatic infection was 0.97% (95% CI 0.77%, 1.17%). The confirmed seroconversion rate was 92.8%. There were no serious adverse events reported and no individuals suffered from severe disease. Our findings show that vaccinated individuals are likely to remain protected against symptomatic infection or becoming PCR positive for SARS COV 2 following the second dose of the vaccination.


Assuntos
Vacinas contra COVID-19/administração & dosagem , COVID-19/diagnóstico , Vacinas de Produtos Inativados/administração & dosagem , Adulto , COVID-19/epidemiologia , COVID-19/virologia , Vacinas contra COVID-19/efeitos adversos , Ensaios Clínicos Fase III como Assunto , Feminino , Seguimentos , Cefaleia/etiologia , Pessoal de Saúde , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , SARS-CoV-2/genética , SARS-CoV-2/isolamento & purificação , Emirados Árabes Unidos/epidemiologia , Vacinas de Produtos Inativados/efeitos adversos
8.
Am J Clin Pathol ; 157(4): 554-560, 2022 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-34643678

RESUMO

OBJECTIVES: Telemedicine can compensate for the lack of health care specialists in response to protracted humanitarian crises. We sought to assess the usability of a teleclinical microbiology (TCM) program to provide diagnostic services in a hard-to-reach region of Syria. METHODS: A semimobile station was equipped with conventional micrograph and macrograph digital imaging systems. An electronic platform (Telemicrobiology in Humanitarian Crises, TmHC) was created to facilitate sharing, interpreting, and storing the results. A pilot study was conducted to identify the bacterial species and antimicrobial susceptibility pattern of 74 urinary clinical isolates. An experience survey was conducted to capture the feedback of 8 participants in the program. RESULTS: The TmHC platform (https://sdh.ngo/tmhc/) enabled systematic transmission of the laboratory records and co-interpretation of the results. The isolates were identified as Escherichia coli (n = 61), Klebsiella pneumoniae (n = 12), and Proteus mirabilis(n = 1). All the isolates were multidrug resistant. The performance of our TCM module was rated 4 (satisfying) and 5 (very satisfying) by 6 and 2 users, respectively. Data security of and cost-effectiveness were the main perceived concerns. CONCLUSIONS: Although we encountered several context-related obstacles, our TCM program managed to reach a highly vulnerable population of 4 million people confined in the northwest region of Syria.


Assuntos
Klebsiella pneumoniae , Proteus mirabilis , Antibacterianos , Serviços de Diagnóstico , Humanos , Testes de Sensibilidade Microbiana , Projetos Piloto , Síria
9.
Eur J Clin Microbiol Infect Dis ; 40(12): 2543-2550, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34292453

RESUMO

Antimicrobial resistance surveillance data is lacking from many resource-limited settings mainly due to limited laboratory testing. Novel culture systems may address some of the limitations of conventional culture media and expand the availability of microbiology services. The aims of this study were to evaluate the performance of InTray COLOREX Screen/ESBL and Compact Dry for the detection of uropathogens and of extended-spectrum beta-lactamase (ESBL)-producing organisms from urine samples. Urines samples were collected from patients presenting with symptoms of urinary tract infection to primary care clinics in Harare. Performance of the InTray COLOREX Screen, ESBL and Compact Dry chromogenic media were compared to the reference of culture using Brilliance UTI agar and conventional antimicrobial susceptibility testing. A total of 414 samples were included in the analysis. Of the included samples, 98 were positive on Brilliance UTI agar and 83 grew Enterobacterales. The sensitivities and specificities for Enterobacterales were 89.2% (95% CI 80.4-94.9) and 98.2% (95% CI 96.1-99.3) for InTray Screen and 95.2% (95% CI 88.1-98.7) and 99.7% (95% CI 98.3-100) for Compact Dry. Extended-spectrum beta-lactamases were present in 22 isolates from the Brilliance UTI agar. The sensitivity of the InTray COLOREX ESBL culture plates for the detection of ESBL-producing organisms was 95.5% (95% CI 77.2-99.9) and specificity was 99.5% (95% CI 98.2-99.9%). Our findings show good performance of the novel culture systems for the detection of uropathogens and ESBL-producing organisms. Both systems have several advantages over conventional media and have the potential to expand and decentralize laboratory testing.


Assuntos
Antibacterianos/farmacologia , Contagem de Colônia Microbiana/métodos , Enterobacteriaceae/efeitos dos fármacos , Enterobacteriaceae/crescimento & desenvolvimento , Testes de Sensibilidade Microbiana/métodos , Infecções Urinárias/microbiologia , Adulto , Proteínas de Bactérias/genética , Proteínas de Bactérias/metabolismo , Contagem de Colônia Microbiana/instrumentação , Centros Comunitários de Saúde/estatística & dados numéricos , Estudos Transversais , Meios de Cultura/química , Meios de Cultura/metabolismo , Farmacorresistência Bacteriana , Enterobacteriaceae/classificação , Enterobacteriaceae/enzimologia , Feminino , Humanos , Masculino , Testes de Sensibilidade Microbiana/instrumentação , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Zimbábue , beta-Lactamases/genética , beta-Lactamases/metabolismo
10.
Clin Microbiol Infect ; 27(10): 1414-1421, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33932617

RESUMO

BACKGROUND: In low- and middle-income countries (LMICs), data related to antimicrobial resistance (AMR) are often inconsistently collected. Humanitarian, private and non-governmental medical organizations (NGOs), working with or in parallel to public medical systems, are sometimes present in these contexts. Yet, what is the role of NGOs in the fight against AMR, and how can they contribute to AMR data collection in contexts where reporting is scarce? How can context-adapted, high-quality clinical bacteriology be implemented in remote, challenging and underserved areas of the world? OBJECTIVES: The aim was to provide an overview of AMR data collection challenges in LMICs and describe one initiative, the Mini-Lab project developed by Médecins Sans Frontières (MSF), that attempts to partially address them. SOURCES: We conducted a literature review using PubMed and Google scholar databases to identify peer-reviewed research and grey literature from publicly available reports and websites. CONTENT: We address the necessity of and difficulties related to obtaining AMR data in LMICs, as well as the role that actors outside of public medical systems can play in the collection of this information. We then describe how the Mini-Lab can provide simplified bacteriological diagnosis and AMR surveillance in challenging settings. IMPLICATIONS: NGOs are responsible for a large amount of healthcare provision in some very low-resourced contexts. As a result, they also have a role in AMR control, including bacteriological diagnosis and the collection of AMR-related data. Actors outside the public medical system can actively contribute to implementing and adapting clinical bacteriology in LMICs and can help improve AMR surveillance and data collection.


Assuntos
Técnicas Bacteriológicas , Técnicas de Laboratório Clínico , Países em Desenvolvimento , Resistência Microbiana a Medicamentos , Organizações , Coleta de Dados , Humanos
12.
Cureus ; 12(12): e11851, 2020 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-33282606

RESUMO

Background Surgical site infection (SSI) after cardiac surgery is a major concern. A limited number of studies have addressed the relationship of preoperative glycemic control on the risk of developing SSI after cardiac surgery. We aim to determine the incidence, microbiological pattern, and impact of preoperative hemoglobin A1C (Hgb A1C) on the development of SSI after cardiac surgery. Methods This is a single-center retrospective chart review that was performed on adult patients undergoing cardiac surgery from January 2017 to December 2018. Results Two hundred and twenty-nine patients underwent 233 procedures. The median age was 60 years; 71% males, 64% were diabetic, and 67% had a Hb A1C above 7% preoperatively. Around 7% of patients developed deep SSI. For patients that developed SSI, 63% had gram-negative bacteria. Hb A1C >7% was not found to be associated with an increased incidence of SSI. Conclusion Our results show that there is no apparent relationship between pre-operative Hgb A1C levels and SSI after cardiac surgery. Although we follow a comprehensive SSI perioperative bundle based on international guidelines that advocates using antibiotics to cover gram-positive organisms, it is interesting that the rate of gram-negative organisms in our patients' cohort is unexpectedly high. We believe that adjusting the perioperative antibiotic regimen based on local microbiological patterns seems to be a reasonable and easily achievable target to decrease the incidence of SSI.

13.
Diagnostics (Basel) ; 10(10)2020 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-33081114

RESUMO

Medical diagnosis in low-resource settings is confronted by the lack of suitable guidelines, protocols and checklists. Online-accessible procedural documents are difficult to find, might be mistranslated or interpreted and usually do not address the needs of developing countries. Urinalysis, one of the most frequently performed diagnostic examinations worldwide, involves a series of tests aiming to detect particular disorders, such as urinary tract infections, kidney disease and diabetes. In this guideline, we present an alternative approach for clinical laboratories with limited resources to identify common bacterial uropathogens. We propose dividing the identification plan into two levels. The implicated pathogen will first be assigned into a bacterial group, basic identification, against which a suitable panel of antimicrobial agents shall be selected for the antimicrobial susceptibility testing (AST). Characterization of the pathogen to the genus or species level, advanced identification, will then be performed to ensure correct reading of the AST results and determine the epidemiology of clinically significant pathogens. Most of the proposed steps in our guideline are tailored to meet the needs of clinical laboratories in low-resource settings. Such guidelines are needed to strengthen the capacity of regional pathology laboratories and to enhance international initiatives on antimicrobial resistance and health equity.

15.
Thorax ; 70(11): 1070-7, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26347391

RESUMO

BACKGROUND: Ototoxicity is a severe side effect of aminoglycoside antibiotics. Aminoglycosides are recommended for the treatment of multidrug-resistant TB (MDR-TB). N-Acetylcysteine (NAC) appears to protect against drug- and noise-induced hearing loss. This review aimed to determine if coadministering NAC with aminoglycoside affected ototoxicity development, and to assess the safety and tolerability of prolonged NAC administration. METHODS: Eligible studies reported on the efficacy of concomitant NAC and aminoglycoside administration for ototoxicity prevention or long-term (≥ 6 weeks) administration of NAC regardless of indication. Pooled estimates were calculated using a fixed-effects model. Heterogeneity was assessed using the I(2) statistic. RESULTS: Three studies reported that NAC reduced ototoxicity in 146 patients with end-stage renal failure receiving aminoglycosides. Pooled relative risk for otoprotection at 4-6 weeks was 0.14 (95% CI 0.05 to 0.45), and the risk difference was -33.3% (95% CI 45.5% to 21.2%). Eighty-three studies (N=9988) described the administration of NAC for >6 weeks. Abdominal pain, nausea and vomiting, diarrhoea and arthralgia were increased 1.4-2.2 times. DISCUSSION: This review provides evidence for the safety and otoprotective effect of NAC when coadministered with aminoglycoside. It represents a strong justification for a clinical trial to investigate the effect of concomitant NAC treatment in patients receiving aminoglycosides as part of MDR-TB treatment.


Assuntos
Acetilcisteína/uso terapêutico , Aminoglicosídeos/efeitos adversos , Otopatias/induzido quimicamente , Otopatias/prevenção & controle , Tuberculose Resistente a Múltiplos Medicamentos/tratamento farmacológico , Sequestradores de Radicais Livres/uso terapêutico , Humanos
16.
J Clin Virol ; 66: 33-7, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25866333

RESUMO

BACKGROUND: Hepatitis delta virus (HDV) testing is recommended for all patients with hepatitis B virus (HBV) infection. HDV infection is associated with severe liver disease and interferon is the only available treatment. OBJECTIVES: To determine the rate of anti-HDV antibody testing in HBV patients; and to describe the epidemiology, clinical characteristics and management of HDV-infected patients at four hospitals in London. STUDY DESIGN: The anti-HDV testing rate was estimated by reviewing clinical and laboratory data. Cross-sectional data collection identified HDV-infected patients who had attended the study centres between 2005 and 2012. RESULTS: At a centre with clinic-led anti-HDV testing, 40% (67/168) of HBV patients were tested. Recently diagnosed HBV patients were more likely to be screened than those under long-term follow-up (62% vs 36%, P=0.01). At a centre with reflex laboratory testing, 99.4% (3543/3563) of first hepatitis B surface antigen positive samples were tested for anti-HDV. Across the four study centres there were 55 HDV-infected patients, of whom 50 (91%) had immigrated to the UK and 27 (49%) had evidence of cirrhosis. 31 patients received interferon therapy for HDV with an end of treatment virological response observed in 10 (32%). CONCLUSIONS: The anti-HDV testing rate was low in a centre with clinic-led testing, but could not be evaluated in all centres. The HDV-infected patients were of diverse ethnicity, with extensive histological evidence of liver disease and poor therapeutic responses. Future recommendations include reflex laboratory testing algorithms and a prospective cohort study to optimise the investigation and management of these patients.


Assuntos
Testes Diagnósticos de Rotina/estatística & dados numéricos , Anticorpos Anti-Hepatite/sangue , Hepatite D/diagnóstico , Hepatite D/terapia , Vírus Delta da Hepatite/imunologia , Programas de Rastreamento/estatística & dados numéricos , Adulto , Estudos Transversais , Feminino , Pesquisa sobre Serviços de Saúde , Hepatite B Crônica/complicações , Hepatite D/epidemiologia , Humanos , Fatores Imunológicos/uso terapêutico , Interferons/uso terapêutico , Londres/epidemiologia , Masculino , Pessoa de Meia-Idade
17.
J Clin Microbiol ; 53(1): 292-4, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25339392

RESUMO

Unbiased species-level identification of coagulase-negative staphylococci (CoNS) using matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) identified Staphylococcus lugdunensis to be a more commonly isolated CoNS in our laboratory than previously observed. It has also highlighted the possibility of vertical transmission.


Assuntos
Tipagem Molecular/métodos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Staphylococcus lugdunensis/química , Staphylococcus lugdunensis/classificação , Adulto , Antibacterianos/farmacologia , Coagulase , Feminino , Humanos , Masculino , Testes de Sensibilidade Microbiana , Estudos Retrospectivos , Staphylococcus/química , Staphylococcus/classificação , Staphylococcus/efeitos dos fármacos , Staphylococcus lugdunensis/efeitos dos fármacos
18.
J Clin Pathol ; 67(2): 173-5, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23986552

RESUMO

BACKGROUND: Training in microbiology is continuing to evolve. Standardisation of this process has, in part, been achieved through the development of a training curriculum by the Royal College of Pathologists (RCPath). A substantial proportion of microbiology training occurs through telephone consultations. AIMS: To ascertain the content of these interactions and the extent to which the necessary skills outlined by the curriculum are attainable via these consultations. METHODS: Records of telephone consultations made by microbiology registrars (SpR) on the Laboratory Information Management System (LIMS) over a 6 month period were analysed with regard to who initiated contact and the type of advice provided. RESULTS: An average of 426 SpR entries per month were made on the LIMS following telephone consultations. These consultations were predominantly initiated by fellow clinicians as opposed to the SpR. The majority (79%) of advice entailed guidance as to the use of antimicrobials which resulted in an alteration of the current regimen in 54% of cases. CONCLUSIONS: This study represents the first attempt to quantify the telephone consultations of microbiology trainees. It is concluded that although such interactions provide a means of attaining some of the competencies outlined by the RCPath curriculum, the bias towards antimicrobial advice reflects a discrepancy between the needs of the service users and the broad skill set advocated by the current microbiology training programme. Future modifications will need to take this into account to ensure both the training of SpRs and the microbiology service is fit for purpose.


Assuntos
Competência Clínica , Educação Médica Continuada/métodos , Microbiologia/educação , Consulta Remota/métodos , Competência Clínica/normas , Currículo , Humanos , Telefone
19.
PLoS Genet ; 9(9): e1003775, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24068950

RESUMO

Both anatomically modern humans and the gastric pathogen Helicobacter pylori originated in Africa, and both species have been associated for at least 100,000 years. Seven geographically distinct H. pylori populations exist, three of which are indigenous to Africa: hpAfrica1, hpAfrica2, and hpNEAfrica. The oldest and most divergent population, hpAfrica2, evolved within San hunter-gatherers, who represent one of the deepest branches of the human population tree. Anticipating the presence of ancient H. pylori lineages within all hunter-gatherer populations, we investigated the prevalence and population structure of H. pylori within Baka Pygmies in Cameroon. Gastric biopsies were obtained by esophagogastroduodenoscopy from 77 Baka from two geographically separated populations, and from 101 non-Baka individuals from neighboring agriculturalist populations, and subsequently cultured for H. pylori. Unexpectedly, Baka Pygmies showed a significantly lower H. pylori infection rate (20.8%) than non-Baka (80.2%). We generated multilocus haplotypes for each H. pylori isolate by DNA sequencing, but were not able to identify Baka-specific lineages, and most isolates in our sample were assigned to hpNEAfrica or hpAfrica1. The population hpNEAfrica, a marker for the expansion of the Nilo-Saharan language family, was divided into East African and Central West African subpopulations. Similarly, a new hpAfrica1 subpopulation, identified mainly among Cameroonians, supports eastern and western expansions of Bantu languages. An age-structured transmission model shows that the low H. pylori prevalence among Baka Pygmies is achievable within the timeframe of a few hundred years and suggests that demographic factors such as small population size and unusually low life expectancy can lead to the eradication of H. pylori from individual human populations. The Baka were thus either H. pylori-free or lost their ancient lineages during past demographic fluctuations. Using coalescent simulations and phylogenetic inference, we show that Baka almost certainly acquired their extant H. pylori through secondary contact with their agriculturalist neighbors.


Assuntos
Trato Gastrointestinal/microbiologia , Genética Populacional , Infecções por Helicobacter/genética , Helicobacter pylori/genética , África , Biópsia , População Negra , Variação Genética , Transtornos do Crescimento/microbiologia , Haplótipos , Infecções por Helicobacter/epidemiologia , Infecções por Helicobacter/microbiologia , Helicobacter pylori/patogenicidade , Humanos , Filogenia
20.
J Med Case Rep ; 4: 349, 2010 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-21034470

RESUMO

INTRODUCTION: Familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene. Disorders of calcium metabolism are very common in the elderly, and they can coexist with familial hypocalciuric hypercalcemia in affected families. CASE PRESENTATION: We describe an Irish family with hypercalcemia and hypocalciuria. The proband, an 80-year-old Irish woman, presented with hypercalcemia, relative hypocalciuria, and an elevated parathormone level. She also had chronic kidney disease stage 3 and vitamin D deficiency. Two of her sons were also found to be hypercalcemic and hypocalciuric. DNA sequencing identified a novel missense inactivating mutation in the calcium sensing-receptor gene of the proband and her two hypercalcemic sons. CONCLUSION: Familial hypocalciuric hypercalcemia due to a novel mutation in the calcium-sensing receptor gene was diagnosed in the proband and her two sons. Disorders of calcium metabolism can be multifarious in the elderly. We suggest that testing first degree relatives for calcium levels and DNA sequencing may have a role in the assessment of elderly patients with parathormone-related hypercalcemia.

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