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1.
Nurs Rep ; 13(4): 1671-1683, 2023 Dec 04.
Artículo en Inglés | MEDLINE | ID: mdl-38133114

RESUMEN

Living with spinal cord injury (SCI) is a challenge that begins in the acute phase, when the disease, the limitations, and the treatments fill the days at the hospital. This study aims to understand the healthcare experience of the person with SCI in the acute phase, based on the Activities of Living Nursing Model (ALNM). It is a qualitative and phenomenological study based on the Standards for Reporting Qualitative Research. Data were collected via semi-structured interviews. Content analysis was performed using the ATLAS.ti software and Bardin's methodology. The article was written following the COREQ guidelines. The categories were defined using the Roper-Logan-Tierney Model for Nursing. The sample included 16 people with incomplete SCI, different etiology, and neurological levels. Eleven of the twelve ALNM emerged from the interviews. The activities of mobilizing, eliminating, maintaining a safe environment, and communicating were emphasized the most. Controlling body temperature was not relevant. Mobility deficits and pain increased dependence. Feelings of motivation, encouragement, and frustration were highlighted. Professional expertise, rehabilitation resources, and support equipment promoted independence. The results in this sample revealed that people with SCI in the acute phase have complex challenges related to dependence awareness and treatments, but they always keep recovery expectations in mind.

2.
Cureus ; 15(8): e44431, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37791227

RESUMEN

Bowel intussusception is rare in adults and is usually driven by an underlying pathological process affecting the bowel. Renal cell carcinoma (RCC) is the most common type of kidney cancer and its disease course, depending on the initial histology and disease stage, can metastasize to adrenal glands, lungs, bones, brains and contralateral kidney that can be challenging to follow. We present the case of a patient with a history of radical left nephrectomy for RCC that developed an acute bowel obstruction, secondary to an ileal metastasis of RCC. In previous surgeries, small bowel obstruction (SBO) is usually found due to adhesions, nonetheless in a patient with a history of high-grade disease at diagnosis, one must keep in mind the possibility of disease relapse in the setting of SBO.

3.
Urol Case Rep ; 50: 102495, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37497364

RESUMEN

Placement of a percutaneous nephrostomy (PCN), to drain and preserve renal function, is a common urologic procedure in the setting of high urinary obstruction. Colonic perforation is a rare complication, with an incidence of 0.2-0.5%. In these situations, literature advises the withdrawal of the PCN into the colon, ureteral stenting, zero-diet, broad spectrum antibiotics and only to remove the catheter days after. Here we describe the case of a patient in whom a PCN was placed transversing the colon, in whom it was retrieved under endoscopic control, with use of endoclips to control the hemorrhage and close the perforation.

4.
J Histochem Cytochem ; 71(4): 169-197, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-37026452

RESUMEN

Coronavirus disease (COVID-19) is caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). SARS-CoV-2 RNA has been found in the human testis on occasion, but subgenomic SARS-CoV-2 and infectious SARS-CoV-2 virions have not been found. There is no direct evidence of SARS-CoV-2 infection of testicular cells. To better understand this, it is necessary to determine whether SARS-CoV-2 receptors and proteases are present in testicular cells. To overcome this limitation, we focused on elucidating with immunohistochemistry the spatial distribution of the SARS-CoV-2 receptors angiotensin-converting enzyme 2 (ACE2) and cluster of differentiation 147 (CD147), as well as their viral spike protein priming proteases, transmembrane protease serine 2 (TMPRSS2) and cathepsin L (CTSL), required for viral fusion with host cells. At the protein level, human testicular tissue expressed both receptors and proteases studied. Both ACE2 and TMPRSS2 were found in interstitial cells (endothelium, Leydig, and myoid peritubular cells) and in the seminiferous epithelium (Sertoli cells, spermatogonia, spermatocytes, and spermatids). The presence of CD147 was observed in all cell types except endothelium and peritubular cells, while CTSL was exclusively observed in Leydig, peritubular, and Sertoli cells. These findings show that the ACE2 receptor and its protease TMPRSS2 are coexpressed in all testicular cells, as well as the CD147 receptor and its protease CTSL in Leydig and Sertoli cells, indicating that testicular SARS-CoV-2 infection cannot be ruled out without further investigation.


Asunto(s)
COVID-19 , SARS-CoV-2 , Humanos , Masculino , SARS-CoV-2/genética , SARS-CoV-2/metabolismo , COVID-19/metabolismo , Enzima Convertidora de Angiotensina 2/metabolismo , Péptido Hidrolasas/metabolismo , Testículo , ARN Viral , Peptidil-Dipeptidasa A/genética , Peptidil-Dipeptidasa A/metabolismo
5.
Genes (Basel) ; 14(3)2023 02 21.
Artículo en Inglés | MEDLINE | ID: mdl-36980814

RESUMEN

Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. A retrospective observational analysis was conducted with patients who were being monitored at a bronchiectasis outpatient clinic in 2022 and had a confirmed or high-likelihood diagnosis of PCD. In total, 17 patients were included in the study, with 12 (66.7%) having PCD confirmed and 5 (29.4%) having a high-likelihood diagnosis. Furthermore, 12 patients were subjected to transmission electron microscopy (TEM), with 7 (58.3%) exhibiting one hallmark defect. Genetic test data was obtained for all 17 patients, with 7 of them (41.2%) displaying a pathogenic/likely pathogenic mutation in homozygosity. To summarize, PCD is an uncommon but significant hereditary illness with consequences regarding morbidity and mortality. Despite the lack of a specific treatment, it is critical to confirm the diagnosis with genetic testing in order to effectively manage the disease and its accompanying disorders.


Asunto(s)
Bronquiectasia , Trastornos de la Motilidad Ciliar , Humanos , Masculino , Femenino , Estudios Retrospectivos , Portugal , Bronquiectasia/diagnóstico , Bronquiectasia/genética , Pruebas Genéticas , Trastornos de la Motilidad Ciliar/diagnóstico , Trastornos de la Motilidad Ciliar/genética
6.
Genes (Basel) ; 14(2)2023 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-36833310

RESUMEN

Infertility is a major health problem worldwide without an effective therapy or cure. It is estimated to affect 8-12% of couples in the reproductive age group, equally affecting both genders. There is no single cause of infertility, and its knowledge is still far from complete, with about 30% of infertile couples having no cause identified (named idiopathic infertility). Among male causes of infertility, asthenozoospermia (i.e., reduced sperm motility) is one of the most observed, being estimated that more than 20% of infertile men have this condition. In recent years, many researchers have focused on possible factors leading to asthenozoospermia, revealing the existence of many cellular and molecular players. So far, more than 4000 genes are thought to be involved in sperm production and as regulators of different aspects of sperm development, maturation, and function, and all can potentially cause male infertility if mutated. In this review, we aim to give a brief overview of the typical sperm flagellum morphology and compile some of the most relevant information regarding the genetic factors involved in male infertility, with a focus on sperm immotility and on genes related to sperm flagellum development, structure, or function.


Asunto(s)
Astenozoospermia , Infertilidad Masculina , Masculino , Humanos , Femenino , Cola del Espermatozoide , Astenozoospermia/complicaciones , Astenozoospermia/genética , Semen , Motilidad Espermática , Infertilidad Masculina/genética
7.
Respir Med ; 209: 107169, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36828173

RESUMEN

Cystic fibrosis (CF) and Primary ciliary dyskinesia (PCD) are both rare chronic diseases, inherited disorders associated with multiple complications, namely respiratory complications, due to impaired mucociliary clearance that affect severely patients' lives. Although both are classified as rare diseases, PCD has a much lower prevalence than CF, particularly among Caucasians. As a result, CF is well studied, better recognized by clinicians, and with some therapeutic approaches already available. Whereas PCD is still largely unknown, and thus the approach is based on consensus guidelines, expert opinion, and extrapolation from the larger evidence base available for patients with CF. Both diseases have some clinical similarities but are very different, necessitating different treatment by specialists who are familiar with the complexities of each disease.This review aims to provide an overview of the knowledge about the two diseases with a focus on the similarities and differences between both in terms of disease mechanisms, common clinical manifestations, genetics and the most relevant therapeutic options. We hoped to raise clinical awareness about PCD, what it is, how it differs from CF, and how much information is still lacking. Furthermore, this review emphasises the fact that both diseases require ongoing research to find better treatments and, in particular for PCD, to fill the medical and scientific gaps.


Asunto(s)
Fibrosis Quística , Síndrome de Kartagener , Humanos , Fibrosis Quística/complicaciones , Fibrosis Quística/genética , Síndrome de Kartagener/complicaciones , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/genética , Enfermedad Crónica , Prevalencia
8.
Artículo en Inglés, Portugués | LILACS, BDENF | ID: biblio-1435686

RESUMEN

Objetivo: compreender a percepção dos usuários de programa de reabilitação física sobre suas experiências no enfrentamento de barreiras de acessibilidade e mobilidade urbana para comparecer nos atendimentos em Centro Especializado de Reabilitação. Método:estudo descritivo, abordagem qualitativa, realizado na região Metropolitana I do Rio de Janeiro, Brasil. Dados coletados através de entrevistas semiestruturadas, analisados à luz da análise de conteúdo, abordagem temática. Resultados: da análise emergiram quatro categorias que evidenciaram reiteradas experiências desafiadoras no percurso de suas residências para agendamentos no programa de reabilitação, se deparando com ambientes de mobilidade urbana inadequados à circulação de pessoas com algum tipo de deficiência ou mobilidade reduzida. Considerações Finais: os participantes experimentam situações constrangedoras que os fazem se sentir impotentes, desmotivados, frustrados e com baixa autoestima, requerendo das equipes de reabilitadoras a adoção de estratégias acolhedoras de atendimentos para que não comprometam o alcance de metas planejadas no programa de reabilitação.


Objective: to understand the perception of users of a physical rehabilitation program about their experiences in facing barriers to accessibility and urban mobility to attend consultations at a Specialized Rehabilitation Center. Method: descriptive study, qualitative approach, in the Metropolitan Region I of Rio de Janeiro, Brazil. Data collected through semi-structured interviews, analyzed in the light of content analysis, thematic approach. Results: from the analysis, four categories emerged that showed repeated challenging experiences in the course of their residences for scheduling in the rehabilitation program, facing urban mobility environments unsuitable for the circulation of people with some type of disability or reduced mobility. Final Considerations: participants experience embarrassing situations that make them feel powerless, unmotivated, frustrated and with low self-esteem, requiring rehabilitation teams to adopt welcoming strategies for care so that they do not compromise the achievement of goals planned in the rehabilitation program.


Objetivo: comprender la percepción de los usuarios de un programa de rehabilitación física sobre sus experiencias frente a las barreras de accesibilidad y movilidad urbana para asistir a consultas en un Centro Especializado de Rehabilitación. Método: estudio descriptivo, abordaje cualitativo, realizado en la Región Metropolitana I de Río de Janeiro, Brasil. Datos recolectados a través de entrevistas semiestructuradas, analizados a la luz del análisis de contenido, abordaje temático. Resultados: del análisis surgieron cuatro categorías que evidenciaron reiteradas experiencias desafiantes en el transcurso de sus residencias para la inserción en el programa de rehabilitación, frente a ambientes de movilidad urbana no aptos para la circulación de personas con algún tipo de discapacidad o movilidad reducida. Consideraciones Finales: los participantes viven situaciones bochornosas que los hacen sentir impotentes, desmotivados, frustrados y con baja autoestima, requiriendo que los equipos de rehabilitación adopten estrategias acogedoras de atención para que no comprometan el logro de las metas previstas en el programa de rehabilitación.


Asunto(s)
Masculino , Femenino , Adulto , Persona de Mediana Edad , Centros de Rehabilitación/estadística & datos numéricos , Barreras de Acceso a los Servicios de Salud , Movilidad en la Ciudad , Personas con Discapacidad/rehabilitación , Investigación Cualitativa , Limitación de la Movilidad , Discriminación Social
9.
Genes (Basel) ; 13(7)2022 07 21.
Artículo en Inglés | MEDLINE | ID: mdl-35886074

RESUMEN

Asthenozoospermia is one of the main causes of male infertility and it is characterized by reduced sperm motility. Several mutations in genes that code for structural or functional constituents of the sperm have already been identified as known causes of asthenozoospermia. In contrast, the role of sperm RNA in regulating sperm motility is still not fully understood. Consequently, here we aim to contribute to the knowledge regarding the expression of sperm RNA, and ultimately, to provide further insights into its relationship with sperm motility. We investigated the expression of a group of mRNAs by using real-time PCR (CATSPER3, CFAP44, CRHR1, HIP1, IQCG KRT34, LRRC6, QRICH2, RSPH6A, SPATA33 and TEKT2) and the highest score corresponding to the target miRNA for each mRNA in asthenozoospermic and normozoospermic individuals. We observed a reduced expression of all mRNAs and miRNAs in asthenozoospermic patients compared to controls, with a more accentuated reduction in patients with progressive sperm motility lower than 15%. Our work provides further insights regarding the role of RNA in regulating sperm motility. Further studies are required to determine how these genes and their corresponding miRNA act regarding sperm motility, particularly KRT34 and CRHR1, which have not previously been seen to play a significant role in regulating sperm motility.


Asunto(s)
Astenozoospermia , MicroARNs , Astenozoospermia/genética , Astenozoospermia/metabolismo , Humanos , Canales Iónicos/metabolismo , Masculino , MicroARNs/genética , MicroARNs/metabolismo , ARN Mensajero/genética , ARN Mensajero/metabolismo , Semen/metabolismo , Motilidad Espermática/genética , Espermatozoides/metabolismo
10.
J Clin Med ; 9(1)2020 Jan 03.
Artículo en Inglés | MEDLINE | ID: mdl-31947757

RESUMEN

Clinical genetics has an important role in the healthcare system to provide a definitive diagnosis for many rare syndromes. It also can have an influence over genetics prevention, disease prognosis and assisting the selection of the best options of care/treatment for patients. Next-generation sequencing (NGS) has transformed clinical genetics making possible to analyze hundreds of genes at an unprecedented speed and at a lower price when comparing to conventional Sanger sequencing. Despite the growing literature concerning NGS in a clinical setting, this review aims to fill the gap that exists among (bio)informaticians, molecular geneticists and clinicians, by presenting a general overview of the NGS technology and workflow. First, we will review the current NGS platforms, focusing on the two main platforms Illumina and Ion Torrent, and discussing the major strong points and weaknesses intrinsic to each platform. Next, the NGS analytical bioinformatic pipelines are dissected, giving some emphasis to the algorithms commonly used to generate process data and to analyze sequence variants. Finally, the main challenges around NGS bioinformatics are placed in perspective for future developments. Even with the huge achievements made in NGS technology and bioinformatics, further improvements in bioinformatic algorithms are still required to deal with complex and genetically heterogeneous disorders.

11.
Adv Med Sci ; 65(1): 1-11, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31835165

RESUMEN

PURPOSE: Primary ciliary dyskinesia (PCD) is a ciliopathy caused by dysfunction of motile cilia. As there is still no standard PCD diagnostics, the final diagnosis requires a combination of several tests. The genetic screening is a hallmark for the final diagnosis and requires high-throughput techniques, such as whole-exome sequencing (WES). Nevertheless, WES has limitations that may prevent a definitive genetic diagnosis. Here we present a case that demonstrates how the PCD genetic diagnosis may not be trivial. MATERIALS/METHODS: A child with PCD and situs inversus totalis (designated as Kartagener syndrome (KS)) was subjected to clinical assessments, ultrastructural analysis of motile cilia, extensive genetic evaluation by WES and chromosomal array analysis, bioinformatic analysis, gene expression analysis and immunofluorescence to identify the genetic etiology. His parents and sister, as well as healthy controls were also evaluated. RESULTS: Here we show that a disease-causing variant in the USP11 gene and copy number variations in CRHR1 and KRT34 genes may be involved in the patient PCD phenotype. None of these genes were previously reported in PCD patients and here we firstly show its presence and immunolocalization in respiratory cells. CONCLUSIONS: This work highlights how the genetic diagnosis can turn to be rather complex and that combining several approaches may be needed. Overall, our results contribute to increase the understanding of the genetic factors involved in the pathophysiology of PCD/KS, which is of paramount importance to assist the current diagnosis and future development of newer therapies.


Asunto(s)
Síndrome de Kartagener/etiología , Queratinas Específicas del Pelo/genética , Queratinas Tipo I/genética , Mutación , Receptores de Hormona Liberadora de Corticotropina/genética , Tioléster Hidrolasas/genética , Preescolar , Cilios/metabolismo , Cilios/patología , Variaciones en el Número de Copia de ADN , Femenino , Pruebas Genéticas , Humanos , Síndrome de Kartagener/patología , Masculino , NADPH Oxidasa 2/genética , Linaje , Fenotipo
12.
Cells ; 8(8)2019 08 15.
Artículo en Inglés | MEDLINE | ID: mdl-31443223

RESUMEN

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron microscopy (TEM) to identify their genetic etiology. These analyses confirmed the diagnostic of Kartagener syndrome (KS) (PCD with situs inversus). Patient-1 showed a predominance of the absence of the inner dynein arms with two disease-causing variants in the CCDC40 gene. Patient-2 showed the absence of both dynein arms and WES disclosed two novel high impact variants in the DNAH5 gene and two missense variants in the DNAH7 gene, all possibly deleterious. Moreover, in Patient-2, functional data revealed a reduction of gene expression and protein mislocalization in both genes' products. Our work calls the researcher's attention to the complexity of the PCD and to the possibility of gene interactions modelling the PCD phenotype. Further, it is demonstrated that even for well-known PCD genes, novel pathogenic variants could have importance for a PCD/KS diagnosis, reinforcing the difficulty of providing genetic counselling and prenatal diagnosis to families.


Asunto(s)
Cilios/ultraestructura , Síndrome de Kartagener/genética , Síndrome de Kartagener/patología , Dineínas Axonemales/genética , Niño , Dineínas/genética , Femenino , Pruebas Genéticas , Humanos , Masculino , Mutación , Portugal , Proteínas/genética , Secuenciación del Exoma/métodos
13.
Stem Cell Res Ther ; 10(1): 77, 2019 03 07.
Artículo en Inglés | MEDLINE | ID: mdl-30845956

RESUMEN

BACKGROUND: Numerous studies from different labs around the world report human cardiac progenitor cells (hCPCs) as having a role in myocardial repair upon ischemia/reperfusion (I/R) injury, mainly through auto/paracrine signaling. Even though these cell populations are already being investigated in cell transplantation-based clinical trials, the mechanisms underlying their response are still poorly understood. METHODS: To further investigate hCPC regenerative process, we established the first in vitro human heterotypic model of myocardial I/R injury using hCPCs and human-induced pluripotent cell-derived cardiomyocytes (hiPSC-CMs). The co-culture model was established using transwell inserts and evaluated in both ischemia and reperfusion phases regarding secretion of key cytokines, hiPSC-CM viability, and hCPC proliferation. hCPC proteome in response to I/R was further characterized using advanced liquid chromatography mass spectrometry tools. RESULTS: This model recapitulates hallmarks of I/R, namely hiPSC-CM death upon insult, protective effect of hCPCs on hiPSC-CM viability (37.6% higher vs hiPSC-CM mono-culture), and hCPC proliferation (approximately threefold increase vs hCPCs mono-culture), emphasizing the importance of paracrine communication between these two populations. In particular, in co-culture supernatant upon injury, we report higher angiogenic functionality as well as a significant increase in the CXCL6 secretion rate, suggesting an important role of this chemokine in myocardial regeneration. hCPC whole proteome analysis allowed us to propose new pathways in the hCPC-mediated regenerative process, including cell cycle regulation, proliferation through EGF signaling, and reactive oxygen species detoxification. CONCLUSION: This work contributes with new insights into hCPC biology in response to I/R, and the model established constitutes an important tool to study the molecular mechanisms involved in the myocardial regenerative process.


Asunto(s)
Células Madre Pluripotentes Inducidas/metabolismo , Modelos Cardiovasculares , Daño por Reperfusión Miocárdica/metabolismo , Miocardio/metabolismo , Regeneración , Humanos , Células Madre Pluripotentes Inducidas/patología , Daño por Reperfusión Miocárdica/patología , Daño por Reperfusión Miocárdica/terapia , Miocardio/patología
14.
Tissue Cell ; 55: 91-106, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30503065

RESUMEN

The human oocyte zona pellucida (ZP) is made of four glycoproteins, ZP1-ZP4. Recently, the prostate adenocarcinoma and prostate cancer PC3 cell-line were shown to express the human oocyte ZP3 glycoprotein, which was evaluated in a single report subject to patent. To further clarify whether oocyte zona pellucida glycoproteins are expressed in prostate cancer tissue and PC3-cells, in this report we evaluated protein expression of the four ZP glycoproteins in normal prostate tissue, prostate adenocarcinoma tissue and PC3-cells, and performed quantitative mRNA expression of the four ZP glycoproteins in the PC3 cell-line. Furthermore, as PC3-cells have not yet been studied in detail regarding their ultrastructural characteristics, in the present report we bring forward the detailed ultrastructure of PC3-cells. PC3-cells were divided into pavement and aggregated cells. We observed new ultrastructural features in pavement and aggregated cells, with the later exhibiting two different cell types. In prostate carcinoma tissue and PC3-cells we found protein expression of the four oocyte glycoproteins, ZP1, ZP2, ZP3 and ZP4. In addition, mRNA expression studies revealed expression of ZP1, ZP3 and ZP4 glycoproteins, but not of ZP2. Interestingly, the ZP1 mRNA product exhibited intron retention.


Asunto(s)
Células PC-3/citología , Neoplasias de la Próstata/metabolismo , Neoplasias de la Próstata/patología , Glicoproteínas de la Zona Pelúcida/metabolismo , Agregación Celular/fisiología , Humanos , Masculino , Oocitos/metabolismo , Próstata/metabolismo , Próstata/patología , Procesamiento Proteico-Postraduccional/fisiología
15.
Proteomics ; 18(13): e1700446, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29696784

RESUMEN

Cardiac fibroblasts (CFs) are one of the main cell populations in the heart and play important roles in tissue homeostasis and myocardial fibrosis. The study of these cells has been hampered by the lack of reliable membrane markers: none of the antigens currently used for characterization and isolation of CFs is unique for this cell type. This issue has also raised doubts regarding a distinct identity of cardiac fibroblasts when compared to other myocardium cell populations with similar morphologies. In this work, we report a comprehensive description and functional analysis of human CFs (hCFs) membraneenriched fraction proteome by advanced mass spectrometry-based proteomic tools. A total number of 1478 proteins were identified, including 774 membrane proteins (52%). We also report the identification of a subset of 30 membrane proteins that in this workflow were only identified in hCFs by comparison with the membrane-enriched proteome lists of human cardiac stem cells, human mesenchymal stem cells, and human dermal fibroblasts. The data reported in this work are a valuable source of information for further studies aiming at defining a membrane molecular signature of human cardiac fibroblasts (hCFs), and a step forward in research regarding membrane proteins with key roles in hCF function in homeostasis and disease.


Asunto(s)
Biomarcadores/análisis , Fibroblastos/metabolismo , Proteínas de la Membrana/metabolismo , Miocardio/metabolismo , Proteoma/análisis , Células Madre/metabolismo , Biomarcadores/metabolismo , Células Cultivadas , Dermis/citología , Dermis/metabolismo , Fibroblastos/citología , Humanos , Espectrometría de Masas , Mesodermo/citología , Mesodermo/metabolismo , Proteoma/metabolismo , Células Madre/citología
16.
Asian J Androl ; 19(1): 5-14, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-26680031

RESUMEN

The genetic bases and molecular mechanisms involved in the assembly and function of the flagellum components as well as in the regulation of the flagellar movement are not fully understood, especially in humans. There are several causes for sperm immotility, of which some can be avoided and corrected, whereas other are related to genetic defects and deserve full investigation to give a diagnosis to patients. This review was performed after an extensive literature search on the online databases PubMed, ScienceDirect, and Web of Science. Here, we review the involvement of regulatory pathways responsible for sperm motility, indicating possible causes for sperm immotility. These included the calcium pathway, the cAMP-dependent protein kinase pathway, the importance of kinases and phosphatases, the function of reactive oxygen species, and how the regulation of cell volume and osmolarity are also fundamental components. We then discuss main gene defects associated with specific morphological abnormalities. Finally, we slightly discuss some preventive and treatments approaches to avoid development of conditions that are associated with unspecified sperm immotility. We believe that in the near future, with the development of more powerful techniques, the genetic causes of sperm immotility and the regulatory mechanisms of sperm motility will be better understand, thus enabling to perform a full diagnosis and uncover new therapies.


Asunto(s)
Motilidad Espermática/fisiología , Cola del Espermatozoide/fisiología , Espermatozoides/fisiología , Calcio/metabolismo , Tamaño de la Célula , Proteínas Quinasas Dependientes de AMP Cíclico/metabolismo , Humanos , Masculino , Redes y Vías Metabólicas , Concentración Osmolar , Especies Reactivas de Oxígeno/metabolismo , Cola del Espermatozoide/metabolismo , Cola del Espermatozoide/ultraestructura , Espermatozoides/metabolismo , Ubiquinona/análogos & derivados , Ubiquinona/uso terapéutico , Vitamina E/uso terapéutico , Vitaminas/uso terapéutico
17.
J Assist Reprod Genet ; 32(6): 893-902, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25877373

RESUMEN

PURPOSE: Perform the genetic characterization of five patients with total sperm immotility using Sanger sequencing and Whole Exome Sequencing (WES), in order to increase the knowledge on the genetics of sperm immotility and, ultimately, allow the identification of potential genetic markers for infertility. METHODS: Prospective study at a University Medical school. We analysed five men with total sperm immotility, four with dysplasia of the fibrous sheath (DFS), associated with disruption of several axonemal structures, and one patient with situs inversus totalis, which showed absence of dynein arms (DA) and nexin bridges. We screened 7 genes by Sanger sequencing, involved in sperm motility and associated to ultrastructural defects found in these patients (CCDC39, CCDC40, DNAH5, DNAI1, RSPH1, AKAP3 and AKAP4). Additionally, we performed WES analysis in the patient with situs inversus. RESULTS: We identified nine new DNA sequence variants by WES. Two of these variants were considered particularly relevant: a homozygous missense change in CCDC103 gene (c.104G > C, p.R35P) probably related with absence of dynein arms; the other in the INSL6 gene (c.262_263delCC) is thought to be also involved in sperm immotility. CONCLUSIONS: Our work suggests that WES is an effective strategy, especially as compared with conventional sequencing, to study highly heterogenic genetic diseases, such as sperm immotility. For future work we expect to expand the analysis of WES to the other four patients and complement findings with expression analysis or functional studies to determine the impact of the novel variants.


Asunto(s)
Infertilidad Masculina/genética , Mutación , Motilidad Espermática/genética , Análisis Mutacional de ADN , Exoma , Marcadores Genéticos , Humanos , Infertilidad Masculina/patología , Masculino
18.
Epidemiol. serv. saúde ; 20(2): 203-212, abr.-jun. 2011. tab
Artículo en Portugués | LILACS | ID: lil-593440

RESUMEN

Objetivo: descrever a ocorrência da sífilis congênita no Município do Natal-RN considerando-se o perfil epidemiológico das mães e dos casos notificados pelo município. Metodologia: estudo do tipo seccional de todos os casos residentes no município do Natal e notificados pelo Sistema de Informação de Agravos de Notificação (Sinan) para o período de 2004 a 2007. Resultados: dos 311 casos elegíveis para o estudo, encontrou-se uma taxa anual média de incidência de sífilis congênita de 6,0 casos por 1000 nascidos vivos em 2004-2007, o que representa seis vezes a meta preconizada pelo Ministério da Saúde; nos anos de 2006 e 2007, registrou-se uma diminuição de 4,4 por cento nos casos, em relação aos dois primeiros anos do estudo. Conclusão: o estudo aponta a necessidade de melhoria da qualidade da atenção pré-natal, especialmente para as gestantes de mais baixa condição socioeconômicae sob risco de parto prematuro.


Objetive: to describe the occurrence of inherited syphilis in the Municipality of Natal, the capital city of the State ofRio Grande do Norte, Brazil, considering the epidemiological profile of mothers and reported cases. Methodology: a crosssectional study of all cases occurred in Natal and reported in the Information System for Notifiable Diseases (Sinan) for the period from 2004 to 2007. Results: within 311 cases eligible for the study, the average annual incidence rate of inheritedsyphilis was of 6 cases per 1,000 live births, from 2004 to 2007, representing six times the target incidence advocated by the Brazilian Ministry of Health; in 2006 and 2007, there was a 4.4 per cent reduction of incidence in relation to the first two years of the study. Conclusion: the study points out the need for improving prenatal care quality, especially for pregnant women with low socioeconomic conditions, and under risk of premature birth.


Asunto(s)
Humanos , Femenino , Embarazo , Atención Prenatal , Sífilis Congénita/epidemiología , Brasil
19.
Cad Saude Publica ; 23(6): 1415-21, 2007 Jun.
Artículo en Portugués | MEDLINE | ID: mdl-17546332

RESUMEN

This study aimed to evaluate the efficacy of weekly iron supplementation with or without vitamin A in the treatment of iron deficiency anemia, using an experimental, randomized, non-placebo-controlled design in 1999. 267 schoolchildren 6 to 14 years of age were randomized to two treatment groups: one group (144) received 200mg iron sulfate alone, with 40 mg of elemental iron, while the other (123) received the same iron supplementation dose plus 10,000 IU of vitamin A (both groups for 30 weeks). Final anemia prevalence was reduced from 48.4% to 17.7% (p < 0.001) in the group receiving iron supplementation alone and 58.1% to 14.3% (p < 0.001) in the group receiving iron plus vitamin A. There was no significant difference between the groups at the end of the study according to mean Hb (p = 0.355) and anemia (p = 0.479). There was a significant correction for iron deficiency anemia with weekly iron-alone supplementation, but with no additional advantage of vitamin A. New studies on the synergism between these two micronutrients are recommended.


Asunto(s)
Anemia Ferropénica/tratamiento farmacológico , Suplementos Dietéticos , Compuestos Ferrosos/administración & dosificación , Hemoglobinas/análisis , Vitamina A/administración & dosificación , Adolescente , Anemia Ferropénica/diagnóstico , Anemia Ferropénica/prevención & control , Niño , Quimioterapia Combinada , Femenino , Humanos , Masculino , Resultado del Tratamiento
20.
Cad. saúde pública ; 23(6): 1415-1421, jun. 2007. tab
Artículo en Portugués | LILACS | ID: lil-452245

RESUMEN

Com o objetivo de avaliar a eficácia da suplementação de ferro, associado ou não à vitamina A, na anemia ferropriva, administrado semanalmente, realizou-se ensaio clínico comunitário, randomizado, não controlado por placebo, em 1999. Uma amostra probabilística de 267 escolares de ambos os sexos com 6 a 14 anos de idade foram casualizados em bloco segundo dois tipos de intervenção: um grupo (144) recebeu 200mg de sulfato ferroso com (40mg de ferro elementar) e o outro (123) recebeu dose similar de sulfato ferroso associado a 10.000 UI de vitamina A, durante 30 semanas. A prevalência de anemia ao final foi reduzida de 48,4 por cento, para 17,7 por cento (p < 0,001), no grupo que recebeu sulfato ferroso, e de 58,1 por cento, para 14,3 por cento (p < 0,001), no grupo que recebeu sulfato ferroso associado à vitamina A. Não houve diferença significante entre os grupos, ao final do estudo, quanto às médias de Hb (p = 0,355) e à proporção de anêmicos (p = 0,479). Corrigiu-se significantemente a anemia ferropriva com suplementação semanal de sulfato ferroso, mas não houve vantagem adicional com a associação da vitamina A. Sugerem-se novos estudos sobre o sinergismo desses micronutrientes.


This study aimed to evaluate the efficacy of weekly iron supplementation with or without vitamin A in the treatment of iron deficiency anemia, using an experimental, randomized, non-placebo-controlled design in 1999. 267 schoolchildren 6 to 14 years of age were randomized to two treatment groups: one group (144) received 200mg iron sulfate alone, with 40mg of elemental iron, while the other (123) received the same iron supplementation dose plus 10,000 IU of vitamin A (both groups for 30 weeks). Final anemia prevalence was reduced from 48.4 percent to 17.7 percent (p < 0.001) in the group receiving iron supplementation alone and 58.1 percent to 14.3 percent (p < 0.001) in the group receiving iron plus vitamin A. There was no significant difference between the groups at the end of the study according to mean Hb (p = 0.355) and anemia (p = 0.479). There was a significant correction for iron deficiency anemia with weekly iron-alone supplementation, but with no additional advantage of vitamin A. New studies on the synergism between these two micronutrients are recommended.


Asunto(s)
Humanos , Masculino , Femenino , Niño , Anemia Ferropénica , Sulfato Ferroso , Estado Nutricional , Estudiantes , Fenómenos Fisiológicos Nutricionales del Lactante , Vitamina A , Brasil , Factores Socioeconómicos
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