RESUMO
PURPOSE: Worldwide publications follow the gold standard method-the polymerase chain reaction (PCR)-for detecting Y-chromosome microdeletions; however, markers are frequently variable between the studies. Can we detect the deletions by another molecular method with more genomic coverage? The Y chromosome harbors several different genes responsible for testicular development and spermatogenesis, and its repetitive conformation predisposes it to complex rearrangements that have clinical impact. Our aim was to evaluate a molecular diagnostic method, the Multiplex Ligand Probe-dependent Amplification (MLPA), which is also a valuable ancillary method for the identification of deletions, duplications, and rearrangements in a single and faster reaction, leading to a better comprehension of patients' phenotypes, and should be considered a useful tool for detection of Y chromosome deletions. METHODS: This is a study of diagnostic accuracy (transversal prospective study) conducted to investigate Y-chromosome deletions in 84 individuals through PCR and MLPA methods. Forty-three infertile men (azoospermic and oligozoospermic) and 41 controls (40 fertile men and 1 normal karyotyped woman) were analyzed by PCR and MLPA techniques. RESULTS: We diagnosed seven (7) deletions (16.2%) by PCR and 9 with MLPA (21%). In addition, we found five (5) duplications and a suggestive mosaic. CONCLUSION: Our results demonstrate that MLPA technique is valuable in the investigation of microdeletions and microduplications. Besides deletions, duplications can cause instability of chromosome genes, possibly leading to infertility. Both studied techniques provide an advantageous diagnostic strategy, thus enabling a better genetic counseling.
Assuntos
Infertilidade Masculina/diagnóstico , Técnicas de Diagnóstico Molecular , Reação em Cadeia da Polimerase Multiplex , Oligospermia/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Adolescente , Adulto , Azoospermia/diagnóstico , Azoospermia/epidemiologia , Azoospermia/genética , Azoospermia/patologia , Brasil/epidemiologia , Deleção Cromossômica , Cromossomos Humanos Y/genética , Humanos , Infertilidade Masculina/epidemiologia , Infertilidade Masculina/genética , Infertilidade Masculina/patologia , Masculino , Pessoa de Meia-Idade , Oligospermia/epidemiologia , Oligospermia/genética , Oligospermia/patologia , Fenótipo , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/epidemiologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologia , Espermatogênese/genética , Adulto JovemRESUMO
Evidence shows that an increased width and thickness of the keratinized mucosa favours peri-implant health. The aim of this network meta-analysis was to compare the clinical effects of alternative biomaterials for peri-implant soft tissue phenotype modification (PSPM) in patients with dental implants when compared to autologous tissue grafts. An electronic search without language or date limitations was performed in four databases and the grey literature for articles published until November 2020. The eligibility criteria included randomized clinical trials (RCTs) evaluating the clinical outcomes of biomaterials for PSPM. A pairwise and network meta-analysis was conducted for each parameter to assess and compare the outcomes between the different treatment arms for the primary and secondary outcomes. A total of 11 RCTs were included in this review. The free gingival graft (FGG) showed the best clinical effect for increasing keratinized mucosa width (KMW). When compared in a network, the FGG demonstrated the best treatment ranking of probability results, followed by connective tissue graft (CTG), acellular dermal matrix (ADM), and xenogeneic collagen matrix (XCM). For the parameters 'mucosa thickness' and 'participant satisfaction with aesthetics', the results were CTG > ADM > XCM and XCM > ADM > CTG, respectively. Autogenous tissue grafts (FGG/CTG) demonstrate the best results in increasing KMW and mucosa thickness when compared to the other biomaterials.
Assuntos
Implantes Dentários , Gengiva , Materiais Biocompatíveis , Tecido Conjuntivo , Estética Dentária , Gengiva/cirurgia , Humanos , Metanálise em Rede , FenótipoRESUMO
An estimated quarter of the world's population possesses an infection caused by gastrointestinal nematodes, which induce a Th2 type immune response. Concomitant infection of nematodes with Mycobacterium tuberculosis, which induces a predominantly Th1 type response, is very frequent in tropical and subtropical regions. This study examined immune responses of BALB/c mice infected with Strongyloides venezuelensis and then co-infected with Mycobacterium bovis. The number of worms in the intestine, eggs in feces, cytokine production in lungs and intestine and the expression of CD80, CD86, CTLA-4 and CD28 cell markers on pulmonary cells were analysed. Our results indicate that co-infected mice had an increased parasite burden, which correlates with elevated IFN-gamma and IL-10 cytokine production and decreased IL-4 and IL-13. Moreover, decreased expression of CD80 and increased expression of CTLA-4 were observed in co-infected mice. Our data point out that susceptibility to Strongyloides venezuelensis infection is increased by Mycobacterium bovis co-infection, resulting in higher parasite survival.
Assuntos
Citocinas/metabolismo , Infecções por Mycobacterium/complicações , Mycobacterium bovis , Strongyloides/patogenicidade , Estrongiloidíase/complicações , Células Th2/imunologia , Animais , Suscetibilidade a Doenças , Fezes/parasitologia , Interferon gama/metabolismo , Interleucina-10/metabolismo , Intestinos/imunologia , Intestinos/parasitologia , Pulmão/imunologia , Pulmão/parasitologia , Masculino , Camundongos , Camundongos Endogâmicos BALB C , Infecções por Mycobacterium/imunologia , Infecções por Mycobacterium/microbiologia , Mycobacterium bovis/imunologia , Mycobacterium bovis/patogenicidade , Contagem de Ovos de Parasitas , Ratos , Ratos Wistar , Strongyloides/classificação , Estrongiloidíase/imunologia , Estrongiloidíase/parasitologiaRESUMO
Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and to apply the chromosomal microarray (CMA) methodology in selected cases. The samples were analyzed by MLPA kits P064, P036, P070 and P250. Positive results were found in 97/416 (23.3%) patients. CMA was applied in 14 selected cases. In 6/14 (42.85%) patients, CMA detected other copy number variations not detected by the MLPA studies. Although CMA is indispensable for genotype refinement, the technique is still unfeasible in some countries as a routine analysis due to economic and technical limitations. In these cases, clinical evaluation followed by karyotyping and MLPA analysis is a helpful and affordable solution for diagnostic purposes.
Assuntos
Anormalidades Congênitas/genética , Deficiência Intelectual/genética , Adolescente , Adulto , Brasil , Criança , Pré-Escolar , Feminino , Dosagem de Genes , Humanos , Lactente , Masculino , Reação em Cadeia da Polimerase MultiplexRESUMO
The majority of children with Down syndrome (DS) tend to have frequent bacterial infections including recurrent respiratory infections. Our objective was to evaluate the production of antibodies to pneumococcal polysaccharide antigens after active immunization in DS subjects. IgG antibodies to pneumococcal serotypes (1, 3, 6B, 9V, and 14) were measured before and 6 weeks after immunization with a 23-valent pneumococcal vaccine (Pneumo23, Pasteur-Merrieux) in 6- to 13-year-old DS children (N = 17) and in aged-matched normal controls (N = 30). An adequate response was defined as a 4-fold increase over baseline or a post-immunization level of specific pneumococcal serotype antibody > or = 1.3 microg/mL. After immunization, all DS children had an increase in post-immunization levels against all serotypes analyzed. A 4-fold or more increase was observed in all DS children concerning serotypes 1 and 14, in 90% of subjects for serotypes 3 and 9V, and in 65% for serotype 6B. Regarding this increase, 8 of the 17 DS children had an adequate response to all serotypes analyzed, 8/17 patients to 4 serotypes and 1/17 to 3 serotypes. However, when we compared post-immunization levels between DS children and controls, we observed lower levels in the former group (P < 0.05) for all serotypes except serotype 3. We conclude that pneumococcal polysaccharide immunization could be beneficial for these DS children.
Assuntos
Anticorpos Antibacterianos/imunologia , Síndrome de Down/imunologia , Imunoglobulina G/imunologia , Infecções Pneumocócicas/prevenção & controle , Vacinas Pneumocócicas/imunologia , Adolescente , Anticorpos Antibacterianos/sangue , Estudos de Casos e Controles , Criança , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Imunoglobulina G/sangue , MasculinoRESUMO
This article presents a technique for making and using disposable standardized silicone stops. The stops have several diameters, colors, and thicknesses in order to make nonsurgical endodontics more efficient and improve the quality of therapy.
Assuntos
Preparo da Cavidade Dentária/instrumentação , Tratamento do Canal Radicular/instrumentação , Elastômeros de Silicone , Humanos , Tratamento do Canal Radicular/métodosRESUMO
Drug allergy is a type B adverse drug reaction, which is unpredictable and difficult to prevent or manage. In patients who have a previous history of drug allergy it must be confirmed by laboratorial diagnosis. However, the diagnostic test remains a major problem in clinical practice. Skin testing is validated for some drugs, such as penicillin, but not for others. Provocation test is a confirmatory test but bears the risk of severe reactions. Lymphocyte transformation test is a reliable test but is considered as a research tool. This review addresses the most recent published literature regarding the techniques which have already been developed as well as the new tests that can be promising alternatives for diagnosis of drug allergy.
Assuntos
Alérgenos , Usos Diagnósticos de Compostos Químicos , Hipersensibilidade a Drogas/diagnóstico , Preparações Farmacêuticas , Alérgenos/imunologia , Antígenos CD/imunologia , Antígenos de Diferenciação de Linfócitos T/imunologia , Basófilos/imunologia , Basófilos/metabolismo , Hipersensibilidade a Drogas/imunologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Humanos , Imunoglobulina E/sangue , Interleucina-5/biossíntese , Interleucina-5/imunologia , Lectinas Tipo C , Ativação Linfocitária/imunologia , Diester Fosfórico Hidrolases/imunologia , Glicoproteínas da Membrana de Plaquetas/imunologia , Pirofosfatases/imunologia , Testes Cutâneos , Subpopulações de Linfócitos T/imunologia , Subpopulações de Linfócitos T/metabolismo , Tetraspanina 30RESUMO
The majority of children with Down syndrome (DS) tend to have frequent bacterial infections including recurrent respiratory infections. Our objective was to evaluate the production of antibodies to pneumococcal polysaccharide antigens after active immunization in DS subjects. IgG antibodies to pneumococcal serotypes (1, 3, 6B, 9V, and 14) were measured before and 6 weeks after immunization with a 23-valent pneumococcal vaccine (Pneumo23®, Pasteur-Merrieux) in 6- to 13-year-old DS children (N = 17) and in aged-matched normal controls (N = 30). An adequate response was defined as a 4-fold increase over baseline or a post-immunization level of specific pneumococcal serotype antibody > or = 1.3 æg/mL. After immunization, all DS children had an increase in post-immunization levels against all serotypes analyzed. A 4-fold or more increase was observed in all DS children concerning serotypes 1 and 14, in 90 percent of subjects for serotypes 3 and 9V, and in 65 percent for serotype 6B. Regarding this increase, 8 of the 17 DS children had an adequate response to all serotypes analyzed, 8/17 patients to 4 serotypes and 1/17 to 3 serotypes. However, when we compared post-immunization levels between DS children and controls, we observed lower levels in the former group (P < 0.05) for all serotypes except serotype 3. We conclude that pneumococcal polysaccharide immunization could be beneficial for these DS children.