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1.
Acta Biomed ; 91(13-S): e2020018, 2020 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-33170179

RESUMO

BACKGROUND AND AIM: Infertility affects ~20% of the couples in the world. Assisted reproductive technologies (ARTs) are currently the most common treatment option for infertility. Nevertheless, ARTs may be associated with complications for mothers and/or offspring. Natural procreative technology (NaProTechnology) is a natural treatment which minimizes these risks by seeking to identify the causes of infertility to enable better treatments. This narrative review summarizes the complications related to ARTs and clarifies how the NaProTechnology approach can help ARTs to achieve better results or be used in alternative to ARTs. METHODS: Data in the literature indicate that NaProTechnology is a natural approach for treating infertility. RESULTS: The percentage of live births obtained by NaProTechnology is similar to that of ARTs. CONCLUSIONS: An extensive search for the genetic defects causing infertility or subfertility through genetic testing can help both ARTs and NaProTechnology to achieve successful pregnancies. By discovering the underlying causes of infertility, genetic tests enable better family counseling, like the implications of transmitting risk- and disease-alleles to future generations.


Assuntos
Infertilidade , Técnicas de Reprodução Assistida , Feminino , Testes Genéticos , Humanos , Gravidez , Técnicas de Reprodução Assistida/efeitos adversos , Tecnologia
2.
Acta Biomed ; 91(13-S): e2020021, 2020 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-33170180

RESUMO

BACKGROUND: Fetal abnormalities cause 20% of perinatal deaths. Advances in prenatal genetic and other types of screening offer great opportunities for identifying high risk pregnancies. METHODS: Through a literature search, here we summarise what are the prenatal diagnostic technique that are being used and how those techniques may allow for prenatal interventions. RESULTS: Next generation sequencing and non-invasive prenatal testing are fundamental for clinical diagnostics because of their sensitivity and accuracy in identifying point mutations, aneuploidies, and microdeletions, respectively. Timely identification of genetic disorders and other fetal abnormalities enables early intervention, such as in-utero gene therapy, fetal drug therapy and prenatal surgery. CONCLUSION: Prenatal intervention is mainly focused on conditions that may cause death or lifelong disabilities, like spina bifida, congenital diaphragm hernia and sacrococcygeal teratoma; and may be an alternative therapeutic option to termination of pregnancy. However, it is not yet widely available, due to lack of specialized centers.


Assuntos
Terapias Fetais , Hérnias Diafragmáticas Congênitas , Aneuploidia , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal
3.
Acta Biomed ; 91(1): 161-164, 2020 03 19.
Artigo em Inglês | MEDLINE | ID: mdl-32191676

RESUMO

BACKGROUND: Viral infectivity depends on interactions between components of the host cell plasma membrane and the virus envelope. Here we review strategies that could help stem the advance of the SARS-COV-2 epidemic. METHODS AND RESULTS: We focus on the role of lipid structures, such as lipid rafts and cholesterol, involved in the process, mediated by endocytosis, by which viruses attach to and infect cells. Previous studies have shown that many naturally derived substances, such as cyclodextrin and sterols, could reduce the infectivity of many types of viruses, including the coronavirus family, through interference with lipid-dependent attachment to human host cells. CONCLUSIONS: Certain molecules prove able to reduce the infectivity of some coronaviruses, possibly by inhibiting viral lipid-dependent attachment to host cells. More research into these molecules and methods would be worthwhile as it could provide insights the mechanism of transmission of SARS-COV-2 and, into how they could become a basis for new antiviral strategies.


Assuntos
Antivirais , Betacoronavirus/efeitos dos fármacos , Infecções por Coronavirus/tratamento farmacológico , Pneumonia Viral/tratamento farmacológico , Bibliotecas de Moléculas Pequenas , Ligação Viral/efeitos dos fármacos , Animais , Antivirais/química , Antivirais/farmacologia , Antivirais/uso terapêutico , Betacoronavirus/fisiologia , COVID-19 , Humanos , Lipídeos , SARS-CoV-2 , Bibliotecas de Moléculas Pequenas/farmacologia , Bibliotecas de Moléculas Pequenas/uso terapêutico , Tratamento Farmacológico da COVID-19
4.
Front Endocrinol (Lausanne) ; 11: 605237, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33574797

RESUMO

Background: Infertility affects about 7% of the general male population. The underlying cause of male infertility is undefined in about 50% of cases (idiopathic infertility). The number of genes involved in human spermatogenesis is over two thousand. Therefore, it is essential to analyze a large number of genes that may be involved in male infertility. This study aimed to test idiopathic male infertile patients negative for a validated panel of "diagnostic" genes, for a wide panel of genes that we have defined as "pre-diagnostic." Methods: We developed a next-generation sequencing (NGS) gene panel including 65 pre-diagnostic genes that were used in 12 patients who were negative to a diagnostic genetic test for male infertility disorders, including primary spermatogenic failure and central hypogonadism, consisting of 110 genes. Results: After NGS sequencing, variants in pre-diagnostic genes were identified in 10/12 patients who were negative to a diagnostic test for primary spermatogenic failure (n = 9) or central hypogonadism (n = 1) due to mutations of single genes. Two pathogenic variants of DNAH5 and CFTR genes and three uncertain significance variants of DNAI1, DNAH11, and CCDC40 genes were found. Moreover, three variants with high impact were found in AMELY, CATSPER 2, and ADCY10 genes. Conclusion: This study suggests that searching for pre-diagnostic genes may be of relevance to find the cause of infertility in patients with apparently idiopathic primary spermatogenic failure due to mutations of single genes and central hypogonadism.


Assuntos
Marcadores Genéticos , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Infertilidade Masculina/diagnóstico , Mutação , Adulto , Humanos , Infertilidade Masculina/genética , Masculino , Pessoa de Meia-Idade , Adulto Jovem
5.
Urologia ; 79(4): 283-285, 2012 Dec 18.
Artigo em Italiano | MEDLINE | ID: mdl-22729602

RESUMO

In 1994 Amin et al. described an uncommon variant of urothelial carcinoma: the micropapillary carcinoma (MPC) .The MPC of the urinary bladder is rare, but has an aggressive clinical course. The optimal treatment strategy for this tumor appears to be early radical cystectomy. We report a case of MPC of the urinary bladder and review the literature.

6.
Urologia ; 78(3): 190-5, 2011.
Artigo em Italiano | MEDLINE | ID: mdl-21948139

RESUMO

OBJECTIVES: We report on the long-term functional results of the orthotopic VIP neobladder and compare the outcome of the antireflux technique for ureteral implantation versus direct anastomosis. PATIENTS AND METHODS: Between 1998 and 2009, 84 patients underwent cystoprostatectomy and orthotopic VIP neobladder for invasive bladder carcinoma. 96 renal units were reimplanted using the Enine-Ghoneim antirefluxing technique (group 1). The direct Nesbit end-to-side technique for ureteral reimplantation was applied in 72 renal units (group 2). The mean follow-up period was 54 months (range, 10-154 months). RESULTS: Of the 96 renal units who underwent the Enine-Ghoneim technique, 12 (12.5%) had uretero-ileal anastomotic stricture and 4 (4.1%) had reflux. Of the 72 renal units who underwent direct anastomosis, 11 (15.2%) patients had reflux, 2 (2.7%) had uretero-ileal anastomotic stricture. The incidence of stricture formation in the Enine-Ghoneim technique is significantly higher than direct anastomosis. The incidence of reflux in preoperatively dilated ureters was significantly higher in direct ureteral anastomosis than antireflux technique. The incidence of stone formation, renal scaring and pyelonephritis was comparable in both groups. CONCLUSIONS: Direct uretero-ileal anastomosis in orthotopic bladder replacement is more reasonable than the Enine-Ghoneim antireflux technique in non-dilated ureters. The benefit of the antireflux technique has been overestimated despite the frequency of stricture formation.


Assuntos
Íleo/cirurgia , Ureter/cirurgia , Neoplasias da Bexiga Urinária/cirurgia , Coletores de Urina , Idoso , Anastomose Cirúrgica/métodos , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Procedimentos Cirúrgicos Urológicos/métodos
7.
Urologia ; 78(3): 216-20, 2011.
Artigo em Italiano | MEDLINE | ID: mdl-21786231

RESUMO

OBJECTIVE: To compare the success rates and complications of ultrasound and low-power Holmium laser-assisted ureteroscopy (URS) in managing middle-distal ureteral stones. MATERIALS AND METHODS: We retrospectively analyzed the records of 90 patients with middle-distal ureteral stones who underwent ureteroscopic lithotripsy at our institution from May 2006 to April 2010. 45 patients were treated with ultrasound (mean size 6.7 mm), 45 patients with low-power Holmium laser (mean size 7.4 mm). The same ureteroscope (9.5/8ch rigid-Storz) was used to treat all the patients. Patients were monitored before the hospital discharge with abdominal radiograph and ultrasonography, and as outpatients after 3 months with abdominal radiograph, ultrasonography and urography in selected cases. RESULTS: We obtained a complete immediate fragmentation of stones in 27/45 (60%) patients with ultrasound, and in 36/45 (80%) patients after laser treatment. A proximal migration of stones was observed in 12/45 (26.8%) patients with ultrasound and 3/45 (6.6) with laser. We observed a ureteral perforation after laser treatment and no patient developed urosepsis. 6/45 (13.3%) patients who were treated with ultrasound underwent auxiliary therapy such as alkalizing therapy, 9/45 (20%) patients a second ureteroscopy, 9/45 (20%) a shockwave lithotripsy. No patient underwent an auxiliary shockwave treatment after laser, 6/45 (13.4%) patients underwent a second ureteroscopy. Operating time (20.33 vs 28.85 minutes) and hospitalization (3.6 vs 5.1 days) were shorter with laser if compared with ultrasound treatment. CONCLUSION: In our study the fragmentation rates of Holmium laser-assisted ureteroscopy were significantly better than with ultrasound in the middle-distal ureteral stones management. We did not have relevant complications using both procedures, and the need for auxiliary procedures was significantly less for Holmium laser-assisted ureteroscopy when compared with ultrasound.


Assuntos
Litotripsia , Cálculos Ureterais/terapia , Humanos , Litotripsia a Laser , Terapia com Luz de Baixa Intensidade , Estudos Retrospectivos , Cálculos Ureterais/patologia
8.
Urol Int ; 71(2): 228-30, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12890970

RESUMO

Clear cell adenocarcinoma arising in the lower urinary tract is unusual. We report a case of clear cell adenocarcinoma of the bladder in a 54-year-old male. Cystoscopic examination revealed a tumour arising from the dome of the urinary bladder. Histologically, the tumour was chiefly composed of tubulocystic and papillary glands lined by glycogen-rich, cubical or hobnail cells with clear to eosinophilic cytoplasm. The tumour infiltrated into the inner muscular layer. The patient was treated by partial cystectomy.


Assuntos
Adenocarcinoma de Células Claras/diagnóstico , Neoplasias da Bexiga Urinária/diagnóstico , Adenocarcinoma de Células Claras/patologia , Adenocarcinoma de Células Claras/cirurgia , Cistectomia/métodos , Humanos , Excisão de Linfonodo , Masculino , Pessoa de Meia-Idade , Bexiga Urinária/cirurgia , Neoplasias da Bexiga Urinária/patologia , Neoplasias da Bexiga Urinária/cirurgia
9.
Arch Ital Urol Androl ; 75(1): 6-9, 2003 Mar.
Artigo em Italiano | MEDLINE | ID: mdl-12741337

RESUMO

The ileal conduit has been widely used for urinary diversion. It is a safe procedure with acceptable results, but it has become clear that the conduit can give rise to serious complications, notably renal deterioration in the long run. Stenosis of the ileal conduit, usually developing insidiously many years after the diversion, may be the cause of upper urinary tract damage. In most cases, a variety of possible factors is considered, including microvascular ischemia, urine-borne toxic material, infectious and allergic stimuli and an immunologic defect. Crohn's disease may affect an ileal loop urinary conduit. It presents as a diffuse loop stenosis. Recurrent transitional carcinoma arising within an ileal conduit following cystectomy for malignant disease is rare, but late malignancy in bowel segments exposed to urine without fecal stream is well known. In literature, distinction between conduit complications of patients with underlying benign disease and those with malignancy has not always been clear. Stoma and skin complications are frequently observed and the patients who practiced inadequate stoma care routines are more likely to show peristomal skin complications. Patients bearing an abdominal urostomy should be followed up stringently in stoma centers.


Assuntos
Complicações Pós-Operatórias/etiologia , Estomas Cirúrgicos , Derivação Urinária , Carcinoma de Células de Transição/secundário , Constrição Patológica/etiologia , Doença de Crohn/complicações , Cistectomia , Dermatite/etiologia , Hérnia/etiologia , Herniorrafia , Humanos , Neoplasias do Íleo/etiologia , Isquemia/etiologia , Neoplasias , Complicações Pós-Operatórias/cirurgia , Estomas Cirúrgicos/patologia
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