RESUMO
Oocyte maturation defect is a challenging situation in the management of infertility, the etiology may be related to endocrine causes, protocols used in ovarian stimulation, oocyte intrinsic defects or procedures in embryology laboratory. We report three Mexican females in treatment for primary infertility with non-mature oocytes after ovary stimulation and oocyte capture in whom a genetic diagnosis of TUBB8-oocyte maturation defect was revealed by exome sequencing. Two couples achieved pregnancies though oocyte donation after establishing the genetic etiology. Our results expand the role of TUBB8-disorders in patients of non-Asian ethnicity. Oocyte maturation defects of monogenic origin are a growing group of disorders that endocrinologists and reproductive medicine specialists should be aware in order to provide referral to genetics for establish a correct and opportune diagnosis.
Assuntos
Doenças Genéticas Inatas/terapia , Infertilidade Feminina/diagnóstico , Infertilidade Feminina/terapia , Oogênese/genética , Tubulina (Proteína)/genética , Adulto , Análise Mutacional de DNA , Feminino , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia , Humanos , Infertilidade Feminina/epidemiologia , Infertilidade Feminina/genética , México , Mutação , Linhagem , Gravidez , Prognóstico , Técnicas de Reprodução Assistida/estatística & dados numéricos , Resultado do TratamentoRESUMO
BACKGROUND: Propolis is a complex mixture that honey bees produce from the exudates of various plants and presents many medicinal properties. Its chemical composition varies according to the phytogeography characteristics of each region, among others. The aim of this study was to identify and characterize the volatile organic compounds (VOCs) present in Venezuelan propolis and compare with reference samples such as Brazilian and Argentinian propolis. RESULTS: A total of 90 VOCs were identified in a series of propolis samples using both solid-phase microextraction and dynamic headspace (DHS), both coupled to a gas chromatograph-electron ionization mass spectrometer. In the case of Venezuelan propolis, sesquiterpenes, esters, aromatic compounds, and aliphatic hydrocarbons were identified. Limonene was found only in Venezuelan samples, this being the first time it has been identified in samples from this country. In the case of green propolis, ß-caryophyllene and nerolidol were the major compounds. As for the Argentinian samples, prenyl acetate, benzyl acetate, and 2-phenylethyl acetate were detected only in these samples. CONCLUSIONS: Possible chemical markers of natural sources such as limonene were detected using DHS extraction. Several compounds have also been identified for the first time in Venezuelan propolis. Cluster analysis allowed the relating of the propolis VOCs profile to their provenance. © 2017 Society of Chemical Industry.
Assuntos
Própole/química , Compostos Orgânicos Voláteis/análise , Animais , Argentina , Abelhas , Brasil , Cicloexenos/análise , Cromatografia Gasosa-Espectrometria de Massas/métodos , Limoneno , Sesquiterpenos/análise , Microextração em Fase Sólida , Espectrometria de Massas por Ionização por Electrospray/métodos , Terpenos/análise , VenezuelaRESUMO
Prostate cancer is the second most common cancer among men in western populations, and despite its high mortality, its etiology remains unknown. Inflammatory processes are related to the etiology of various types of tumors, and prostate inflammation, in particular, has been associated with prostate cancer carcinogenesis and progression. Human papillomavirus (HPV) is associated with benign and malignant lesions in the anogenital tract of both females and males. The possible role of HPV in prostate carcinogenesis is a subject of great controversy. In this study, we aimed to examine the prevalence of HPV infections in prostate carcinomas of patients from northeastern Brazil. This study included 104 tissue samples from primary prostate carcinoma cases. HPV DNA was purified and then amplified using MY09/11 and GP5+/GP6+ degenerate primer sets that detect a wide range of HPV types, and with specific PCR primers sets for E6 and E7 HPV regions to detect HPV 16. None of the samples showed amplification products of HPV DNA for primer sets MY09/11 and GP5+/GP6+, or the specific primer set for the E6 and E7 HPV regions. HPV infection, thus, does not seem to be one of the causes of prostate cancer in the population studied.
RESUMO
BACKGROUND: In this paper we study the distribution of leukocyte populations and of cytokine-producing cells in the spleen of a patient with visceral leishmaniasis resistant to clinical treatment. It is the first attempt to compare the distribution of leukocyte populations and cytokine-producing cells in the splenic compartments of a patient with visceral leishmaniasis with those observed in patients without the disease. CASE PRESENTATION: A 25-year-old male, farmer, was hospitalized on several occasions with diagnosis of visceral leishmaniasis and received all recommended treatments for the disease with only transient improvement followed by relapse. He was eventually subjected to splenectomy in order to control the effects of hypersplenism and to potentially overcome infection. After surgery and combined chemotherapy, the disease evolved to cure. In comparison with the spleens of the other two patients without visceral leishmaniasis, an increase was observed in the CD4/CD8 ratio and in the number of IL-10- and FoxP3-producing cells, while the number of IL-17-producing cells was lower in the spleen of the patient with visceral leishmaniasis. CONCLUSION: This report confirms previous data on changes in the CD4/CD8 ratio in the spleens of patients with visceral leishmaniasis. Additionally the data presented herein suggests that splenic FoxP3- and IL-17-producing cells are involved in the chronicity of visceral leishmaniasis.
Assuntos
Citocinas/genética , Leishmaniose Visceral/terapia , Leucócitos/citologia , Baço/imunologia , Adulto , Citocinas/imunologia , Humanos , Leishmania infantum/fisiologia , Leishmaniose Visceral/tratamento farmacológico , Leishmaniose Visceral/genética , Leishmaniose Visceral/imunologia , Contagem de Leucócitos , Leucócitos/imunologia , Masculino , Pessoa de Meia-Idade , Baço/citologia , Falha de TratamentoRESUMO
OBJECTIVE: This study aims to evaluate the effect of raloxifene on the expression of human telomerase reverse transcriptase (hTERT) in invasive ductal breast carcinoma of postmenopausal women. STUDY DESIGN: This study included 20 postmenopausal women with invasive, stage II, estrogen receptor-positive ductal carcinoma diagnosed by incisional biopsy, who received 60 mg of raloxifene orally for 28 days prior to definitive surgery. On the 29th day of treatment, definitive surgery was performed and a second tumor sample was taken for analysis. The catalytic subunit of telomerase (hTERT) was evaluated semiquantitatively by immunohistochemistry in the tumor samples obtained prior to and following raloxifene use and the results were analyzed using the McNemar test (p<0.05). RESULTS: The samples of 17 patients (85%) were classified as positive for telomerase expression prior to raloxifene treatment, while only 6 (30%) remained positive following raloxifene treatment (p<0.0026). CONCLUSION: In the present study, raloxifene significantly reduced the expression of hTERT in estrogen receptor-positive breast tumors from postmenopausal women.
Assuntos
Neoplasias da Mama/tratamento farmacológico , Carcinoma Ductal de Mama/tratamento farmacológico , Regulação para Baixo/efeitos dos fármacos , Pós-Menopausa , Cloridrato de Raloxifeno/uso terapêutico , Moduladores Seletivos de Receptor Estrogênico/uso terapêutico , Telomerase/metabolismo , Idoso , Antineoplásicos/uso terapêutico , Biópsia , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Carcinoma Ductal de Mama/metabolismo , Carcinoma Ductal de Mama/patologia , Carcinoma Ductal de Mama/cirurgia , Terapia Combinada , Feminino , Humanos , Imuno-Histoquímica , Glândulas Mamárias Humanas/efeitos dos fármacos , Glândulas Mamárias Humanas/metabolismo , Pessoa de Meia-Idade , Proteínas de Neoplasias/metabolismo , Estadiamento de Neoplasias , Receptores de Estrogênio/metabolismoRESUMO
OBJECTIVES: To analyze concordance between preoperative lymphoscintigraphy and intraoperative lymphatic mapping (ILM) for sentinel lymph node identification using technetium 99m-labeled-dextran 500 (99m-Tc) and patent blue dye in patients with early cervical cancer undergoing radical hysterectomy and pelvic lymphadenectomy, as well as to evaluate sentinel lymph node (SLN) detection. STUDY DESIGN: Forty-seven patients underwent surgical treatment for cervical cancer. For SLN identification, 99m-Tc and blue patent were injected into the cervix on the eve and day of surgery, respectively. Preoperative pelvic lymphoscintigraphy was performed in all patients after 99m-Tc injection. Concordance between preoperative lymphoscintigraphy and ILM was evaluated. RESULTS: Of the 56 patients who underwent preoperative lymphoscintigraphy, 43 (81.13%) had at least one lymph node identified. Bilateral lymph nodes were identified in 21 (37.5%) patients. Sentinel lymph nodes detected on ILM had been previously found on preoperative lymphoscintigraphy in 66.7%, 67.2% and 0% in the right, left and central locations, respectively. In 14 patients (25%), only one lymph node was identified on preoperative lymphoscintigraphy, but more than one sentinel lymph node was detected on intraoperative mapping. In nine (16.1%) patients, lymphoscintigraphy showed only unilateral lymph nodes, but ILM identified bilateral sentinel lymph nodes. CONCLUSION: The combination of patent blue and radionuclide techniques produced excellent results for SLN detection in cervical cancer. Preoperative lymphoscintigraphy does not offer any advantage over ILM for SLN identification.
Assuntos
Linfonodos/diagnóstico por imagem , Pelve/diagnóstico por imagem , Cuidados Pré-Operatórios/métodos , Cintilografia/métodos , Neoplasias do Colo do Útero/diagnóstico por imagem , Dextranos , Feminino , Humanos , Histerectomia , Excisão de Linfonodo , Linfonodos/patologia , Linfonodos/cirurgia , Estudos Retrospectivos , Biópsia de Linfonodo Sentinela , Tecnécio , Neoplasias do Colo do Útero/patologia , Neoplasias do Colo do Útero/cirurgiaRESUMO
Na prática fisioterapêutica, pressupõe-se que alterações posturais do membro inferior influenciem a biomecânica e função dos demais complexos durante o movimento. No entanto, a literatura sobre a relação entre desalinhamentos estáticos do joelho e possíveis alterações dinâmicas ainda é escassa e inconclusiva. Assim, buscou-se avaliar o efeito do alinhamento frontal estático do joelho sobre a distribuição da pressão plantar durante a marcha. Foram avaliados inicialmente 44 adultos jovens assintomáticos. Por fotogrametria digital, mediu-se o ângulo frontal do joelho, classificado como normal (170° a 175°), valgo <170º e varo >175°. Dado o baixo número de valgos, foram analisados dois grupos: de joelhos normais (n=18) e de joelhos varos (n=23). A distribuição da pressão plantar foi avaliada durante a marcha em cinco áreas. Os grupos mostraram-se estatistica-mente semelhantes em todas as variáveis cinéticas avaliadas em todas as áreas plantares. Joelhos normais apresentaram significativa correlação com o tempo de contato no antepé lateral e médio-pé; e os varos, correlação com a área e tempo de contato em duas e três áreas plantares, e com a pressão integral no antepé lateral. Os resultados mostraram que o desalinhamento frontal de 3° do joelho, embora com moderada correlação, não influencia a distribuição de cargas na superfície plantar durante a marcha. Sugere-se pois que a avaliação clínica não se limite à avaliação articular estática do joelho, mas inclua atividades dinâmicas...
In physical therapy practice, it is assumed that lower-limb posture changes may influence other complexes biomechanics or function during movement. However, literature on the relationship between static knee alignment and possible dynamic changes is still scarce and inconclusive. This study assessed the effect of static frontal knee alignment on plantar pressure distribution during gait. At first 44 young asymptomatic adults were evaluated. Front knee angles were measured by digital photogrammetry and classified as normal (170° to 175°), valgus <170°, or varus >175°. Given the low number of valgus found, two groups were analysed: normal knees (n=18) and varus knees (n=23). Plantar pressure distribution was measured during gait in five plantar surface areas. Groups were found to be statistically similar in all kinetic variables assessed in all plantar surface areas. Normal knees showed significant correlation with the contact time at lateral forefoot and midfoot. Varus knees showed correlation with contact area and time at respectively two and three plantar areas, and with full pressure at lateral forefoot. Results thus show that a 3° frontal knee malalignment, though with moderate correlation, does not influence pressure distribution on plantar surface during gait. It is hence suggested that clinical evaluation should not be limited to static knee assessment, but rather include dynamic activities.
Assuntos
Humanos , Masculino , Feminino , Adulto , Fenômenos Biomecânicos , Marcha , Articulação do Joelho , Equilíbrio Postural , PosturaRESUMO
While there have been significant advances in understanding the genetic etiology of human hair loss over the previous decade, there remain a number of hereditary disorders for which a causative gene has yet to be identified. We studied a large, consanguineous Brazilian family that presented with woolly hair at birth that progressed to severe hypotrichosis by the age of 5, in which 6 of the 14 offspring were affected. After exclusion of known candidate genes, a genome-wide scan was performed to identify the disease locus. Autozygosity mapping revealed a highly significant region of extended homozygosity (lod score of 10.41) that contained a haplotype with a linkage lod score of 3.28. Results of these two methods defined a 9-Mb region on chromosome 13q14.11-q14.2. The interval contains the P2RY5 gene, in which we recently identified pathogenic mutations in several families of Pakistani origin affected with autosomal recessive woolly and sparse hair. After the exclusion of several other candidate genes, we sequenced the P2RY5 gene and identified a homozygous mutation (C278Y) in all affected individuals in this family. Our findings show that mutations in P2RY5 display variable expressivity, underlying both hypotrichosis and woolly hair, and underscore the essential role of P2RY5 in the tissue integrity and maintenance of the hair follicle.
Assuntos
Genes Recessivos , Predisposição Genética para Doença , Hipotricose/genética , Mutação , Receptores Purinérgicos P2/genética , Sequência de Aminoácidos , Animais , Brasil , Mapeamento Cromossômico , Cromossomos Humanos Par 13/genética , Feminino , Ligação Genética , Humanos , Escore Lod , Masculino , Camundongos , Modelos Moleculares , Dados de Sequência Molecular , Linhagem , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
This report describes a well-documented case of primary, nodular-form tuberculosis of the breast that mimicked cancer in a 73-year-old patient. This is a disease that rarely affects the breast.
Assuntos
Neoplasias da Mama/diagnóstico , Carcinoma/diagnóstico , Mastite/diagnóstico , Tuberculose/diagnóstico , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Mastite/microbiologia , Mycobacterium tuberculosis , Tuberculose/microbiologiaRESUMO
CD34 is an antigen present in hematopoietic progenitor cells and endothelial cells. Anti-CD34 antibody is a highly sensitive marker for endothelial cell differentiation and has also been studied as a marker for vascular tumors. However, there are few studies relating it to cervical carcinoma. The aim of this study was to evaluate the association between angiogenesis and the pathoanatomical features of cervical carcinoma using anti-CD34 monoclonal antibody. Sixty-two patients with invasive carcinoma of the uterine cervix in stages Ib-IIa were included. A primary monoclonal antibody specific for CD34 (Anti-Human Hemapoietic Progenitor Cell, CD34 Class II, Clone QBEnd 10, Code M7165, DAKO Corporation) was used in a dilution of 1:25. Microvessel density varied from 4.8 to 20 and was higher in undifferentiated carcinomas (p = 0.03; Mann-Whitney test). Higher microvessel density was associated with squamous cell carcinoma, odds ratio (OR) 8.8 (95% CI: 1.0-76.1), while the presence of lymphatic invasion yielded an OR of 2.6 (95% CI: 0.9-7.4). This study suggested that anti-CD34 antibody reactivity in cervical carcinoma is associated with pathoanatomical features indicative of poorer prognosis.
Assuntos
Adenocarcinoma/irrigação sanguínea , Antígenos CD34/metabolismo , Carcinoma de Células Escamosas/irrigação sanguínea , Neovascularização Patológica/patologia , Neoplasias do Colo do Útero/irrigação sanguínea , Adenocarcinoma/secundário , Adulto , Idoso , Biomarcadores Tumorais/metabolismo , Carcinoma de Células Escamosas/secundário , Feminino , Humanos , Imuno-Histoquímica , Linfonodos/patologia , Metástase Linfática/patologia , Microcirculação/patologia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Neovascularização Patológica/metabolismo , Neoplasias do Colo do Útero/patologiaRESUMO
Oxacillin (methicillin) resistance in methicillin-resistant Staphylococcus aureus (MRSA) is associated with an increased incidence of resistance to other antibiotics, which has increased since it was first reported in 1969. In 1992 a new phenotype of MRSA arose in France; this was characterized by a heterogeneous expression of resistance to oxacillin and susceptibility to various antibiotics, including gentamicin but also tetracycline, minocycline, lincomycin, pristinamycin, co-trimoxazole, rifampin, and fusidic acid. In French hospitals a longitudinal nationwide surveillance of antibiotic resistance in S. aureus has allowed for the detection of changes in antibiotic susceptibility profiles. Seven French clinical laboratories (six from the mainland and one from the West Indies) reported the results of susceptibility testing of 57,347 S. aureus strains isolated in their institutes between 1992 and 1998. Over a 7-year period the incidence of isolation of gentamicin-susceptible MRSA (GS-MRSA) strains has steadily increased to represent, in 1998, 46.8 to 94.4% of the MRSA strains, irrespective of the overall incidence of MRSA. Two predominant types recognized by pulsed-field gel electrophoresis (PFGE) accounted for the majority of the GS-MRSA in different mainland hospitals, both differing from the predominant type observed in the French West Indies. Some GS-MRSA and gentamicin-resistant MRSA (GR-MRSA) strains had closely related PFGE profiles, and hybridization studies confirmed the lack in GS-MRSA of the aac6'-aph2" gene, which confers resistance to all aminoglycosides, with conservation of the ant4' gene, which confers resistance to kanamycin, tobramycin, and amikacin. Thus, it is likely that certain GS-MRSA strains could have emerged from GR-MRSA strains by excision or deletion of the aac6'-aph2" gene.