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1.
Arch. esp. urol. (Ed. impr.) ; 73(1): 54-59, ene.-feb. 2020. ^f54^l59, tab
Artigo em Inglês | IBECS | ID: ibc-192895

RESUMO

OBJECTIVES: The double-J (DJ) stents are commonly used to relieve the ureteral obstruction. Besides several known benefits, some of the patients encounter stent-related morbidities with considerable effects on the quality of life, general health situation, sexual matters, and daily work performance. In this study, we evaluated the effectiveness of tamsulosin/solifenacin combination and mirabegron in reducing DJ stent-related symptoms. MATERIALS AND METHODS: A total of 120 patients with 28cm 4.7fr DJ catheter inserted due to ureteral obstruction were included in this study. Patients were randomly divided into three groups of 40 each; group one received only oral hydration for six weeks; group two received 0.4 mg tamsulosin/10 mg solifenacin, and group three received 50 mg mirabegron. Preoperative and after 6 weeks, the VAPS, OAB-q index, and IPSSs forms were filled. RESULTS: The mean age of the patients was 41.60 ± 12.34 years. There was no significant difference between the groups in terms of preoperative and postoperative VAPS values (p>0.05). There was a significant difference in postop IPSSs values (p:0.001). It was higher in the hydration group than tamsulosin/solifenacin and mirabegron groups. Postoperative IPSS value of the hydration group was 21.78 ± 2.54 while the tamsulosin/ solifenacin and mirabegron groups were 15.6 ± 4.37 and 13.65 ± 4.97, respectively. The use of mirabegron and tamsulosin/solifenacin combination alleviates the LUTSs related with DJ stent. There was also a significant difference between groups in terms of postoperative OAB-q values (p:0.001). Postoperative OAB-q values in the tamsulosin/solifenacin group were significantly higher than the mirabegron group. Postoperative OAB-q value of the hydration group was 29.95 ± 5.21, while the tamsulosin/solifenacin and mirabegron groups were 23.68 ± 4.07 and 18.15 ± 4.1, respectively. Our results also showed that, as a beta-3 adrenergic receptor agonist, mirabegron can improve the OAB-q scores. CONCLUSION: Tamsulosin and solifenacin combination is a significantly good treatment option for reducing LUTS associated with DJ stents. Mirabegron single therapy showed good results in treating LUTS and better results in treating OAB symptoms related with DJ stents than other therapies


OBJETIVO: El catéter doble J se utiliza para desobstruir el uréter. A parte de los ya conocidos beneficios, algunos pacientes tienen efectos adversos derivados de llevar el catéter que empeoran su calidad de vida, su vida sexual, sus actividades laborales. En este estudio, evaluamos la efectividad de la tamsulosina/solifenacina en combinación y mirabegron en reducir estos síntomas. MATERIAL Y MÉTODOS: Un total de 120 pacientes con cateteres de 28 cm/4.7 Ch fueron incluidos en el estudio. Los pacientes se randomizaron en 3 grupos, 40 en cada grupo (un grupo recibio hidratación oral durante 6 semanas, otro grupo tamsulosina 0,4 mg/10 mg solifenacina y el tercero 50 mg mirabegron). VAPS, OAB q index y IPSS cuestionarios se rellenaron en el preoperatorio y a las 6 semanas de tratamiento. RESULTADOS: La mediana de edad fue de 41ª. No había diferencias significativas en los grupos en términos de valores VAPS preoperatorios y postoperatorios. Se evidenció una diferencia significativa en los valores IPSS (p = 0,001), ya que fue más elevado en el grupo de hidratación oral que el grupo de tamsulosina/solifenacina y mirabegron. El valor postoperatorio de IPSS en el grupo de hidratación fue de 22, mientras que en la tamsulosina y mirabegron fue de 15 y 13, respectivamente. El uso de mirabegron y tamsulosina mejora los síntomas tracto urinario inferior por el catéter. También se evidencio una diferencia significativa entre los grupos en términos de OAB-q (p = 0,001). Los valores postoperatorios OAB-q en el grupo tamsulosina fueron más altos que en el grupo mirabegron. El valor OAB-q postoperatorio en el grupo de hidratación oral fue de 29, tamsulosina 23 y mirabegron 18, respectivamente. Nuestros resultados también demuestran que mirabegron puede mejorar los resultados de OAB-q. CONCLUSIONES: Tamsulosina/solifenacina es un buen tratamiento para mejorar los STUI asociados a catéteres. Mirabegon demuestra también buenos resultados en el tratamiento de los síntomas de vejiga hiperactiva relacionados en el catéter mejor que otras terapias


Assuntos
Humanos , Adulto , Pessoa de Meia-Idade , Masculino , Feminino , Acetanilidas/uso terapêutico , Quimioterapia Combinada , Succinato de Solifenacina/uso terapêutico , Tansulosina/uso terapêutico , Tiazóis/uso terapêutico , Bexiga Urinária Hiperativa/tratamento farmacológico , Cateteres Urinários , Agentes Urológicos/uso terapêutico , Qualidade de Vida , Resultado do Tratamento
2.
Arch Esp Urol ; 73(1): 54-59, 2020 Jan.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31950924

RESUMO

 OBJECTIVES: The double-J (DJ) stents are commonly used to relieve the ureteral obstruction. Besides several known benefits, some of the patients encounter stent-related morbidities with considerable effects on the quality of life, general health situation, sexual matters, and daily work performance. In this study, we evaluated the effectiveness of tamsulosin/solifenacin combination and mirabegron in reducing DJ stent-related symptoms. MATERIALS AND METHODS: A total of 120 patients with 28cm 4.7fr DJ catheter inserted due to ureteral obstruction were included in this study. Patients were randomly divided into three groups of 40 each; group one received only oral hydration for six weeks; group two received 0.4 mg tamsulosin/10 mg solifenacin, and group three received 50 mg mirabegron. Preoperative and after 6 weeks, the VAPS, OAB-q index, and IPSSs forms were filled. RESULTS: The mean age of the patients was 41.60 ± 12.34 years. There was no significant difference between the groups in terms of preoperative and postoperative VAPS values (p>0.05). There was a significant difference in postop IPSSs values (p:0.001). It was higher in the hydration group than tamsulosin/solifenacin and mirabegron groups. Postoperative IPSS value of the hydration group was 21.78 ± 2.54 while the tamsulosin/ solifenacin and mirabegron groups were 15.6 ± 4.37 and 13.65 ± 4.97, respectively. The use of mirabegron and tamsulosin/solifenacin combination alleviates the LUTSs related with DJ stent. There was also a significant difference between groups in terms of postoperative OAB-q values (p:0.001). Postoperative OAB-q values in the tamsulosin/solifenacin group were significantly higher than the mirabegron group. Postoperative OAB-q value of the hydration group was 29.95 ± 5.21, while the tamsulosin/solifenacin and mirabegron groups were 23.68 ± 4.07 and 18.15 ± 4.1, respectively. Our results also showed that, as a beta-3 adrenergic receptor agonist, mirabegron can improve the OAB-q scores. CONCLUSION: Tamsulosin and solifenacin combination is a significantly good treatment option for reducing LUTS associated with DJ stents. Mirabegron single therapy showed good results in treating LUTS and better results in treating OAB symptoms related with DJ stents than other therapies.


OBJETIVO: El catéter doble J se utiliza para desobstruir el uréter. A parte de los ya conocidos beneficios, algunos pacientes tienen efectos adversos derivados de llevar el catéter que empeoran su calidad de vida, su vida sexual, sus actividades laborales. En este estudio, evaluamos la efectividad de la tamsulosina/solifenacina en combinación y mirabegron en reducir estos síntomas.MATERIAL Y MÉTODOS: Un total de 120 pacientes con cateteres de 28cm/4.7 Ch fueron incluidos en el estudio. Los pacientes se randomizaron en 3 grupos, 40 en cada grupo (un grupo recibio hidratación oral durante 6 semanas, otro grupo tamsulosina 0,4 mg/10 mg solifenacina y el tercero 50 mg mirabegron). VAPS, OAB q index y IPSS cuestionarios se rellenaron en el preoperatorio y a las 6 semanas de tratamiento. RESULTADOS: La mediana de edad fue de 41ª. No había diferencias significativas en los grupos en términos de valores VAPS preoperatorios y postoperatorios. Se evidenció una diferencia significativa en los valores IPSS (p=0,001), ya que fue mas elevado en el grupo de hidratación oral que el grupo de tamsulosina/solifenacina y mirabegron. El valor postoperatorio de IPSS en el grupo de hidratación fue de 22, mientras que en la tamsulosina y mirabegron fue de 15 y 13, respectivamente. El uso de mirabegron y tamsulosina mejora los síntomas tracto urinario inferior por el catéter. También se evidencio una diferencia significativa entre los grupos en términos de OAB-q (p=0,001). Los valores postoperatorios OAB-q en el grupo tamsulosina fueron mas altos que en el grupo mirabegron. El valor OAB-q postoperatorio en el grupo de hidratación oral fue de 29, tamsulosina 23 y mirabegron 18, respectivamente. Nuestros resultados también demuestran que mirabegron puede mejorar los resultados de OAB-q. CONCLUSIONES: Tamsulosina/solifenacina es un buen tratamiento para mejorar los STUI asociados a catéteres. Mirabegon demuestra también buenos resultados en el tratamiento de los síntomas de vejiga hiperactiva relacionados en el catéter mejor que otras terapias.


Assuntos
Acetanilidas , Succinato de Solifenacina , Tansulosina , Tiazóis , Bexiga Urinária Hiperativa , Cateteres Urinários , Agentes Urológicos , Acetanilidas/uso terapêutico , Adulto , Quimioterapia Combinada , Humanos , Pessoa de Meia-Idade , Qualidade de Vida , Succinato de Solifenacina/uso terapêutico , Tansulosina/uso terapêutico , Tiazóis/uso terapêutico , Resultado do Tratamento , Bexiga Urinária Hiperativa/tratamento farmacológico , Agentes Urológicos/uso terapêutico
5.
J Coll Physicians Surg Pak ; 29(1): 73-74, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30630575

RESUMO

Medical expulsive therapy (MET) is used especially in distal ureteral stones to reduce colics and decrease the number of endourological surgical interventions. A broad spectrum of agents can be used for the relaxation and the dilatation of the ureter, reducing the intraureteric pressure. Alfa-blockers, calcium channel blockers, phosphodiesterase (PDE) inhibitors, and spasmolytics have been shown as effective in clinical trials on urolithiasis. It is a fact that the urothelium itself, the interstitial cells and the ureteric smooth muscle, have B-beta-2 and beta-3 adrenoreceptors. Stimulation of these receptors results in relaxation of the ureter. A recent beta-3 agonist, mirabegron, is commonly used for overactive bladder nowadays. The mechanism of action is adrenergic agonism that affects with the storage phase of the bladder, without interfering the voiding phase, which is regulated by parasympathetic pathways, commonly muscarinic. Agonism of the beta-3 receptors in the ureter has been shown to decrease the intraluminal pressure. By this mechanism, mirabegron can be thought as an alternative MET agent. Acting through different pathways, and having low adverse effect profile, can be thought as the most striking advantages of mirabegron as a MET. In vitro and in vivo trials should be conducted to support this hypothesis.


Assuntos
Acetanilidas/farmacocinética , Agonistas de Receptores Adrenérgicos beta 3/uso terapêutico , Tiazóis/farmacocinética , Ureter/efeitos dos fármacos , Cálculos Ureterais/tratamento farmacológico , Humanos , Relaxamento Muscular/efeitos dos fármacos
6.
Int. braz. j. urol ; 45(1): 118-126, Jan.-Feb. 2019. tab
Artigo em Inglês | LILACS | ID: biblio-989957

RESUMO

ABSTRACT Objectives: to examine the effects of urethroplasty surgery on sexual functions by taking into account age, location of stenosis, length of stenosis and surgical technique parameters. Materials and Methods: The prospective study was conducted between January 2015 and August 2017 with 60 cases. Patients were categorized according to age groups (19-65 / 65-75 years), surgery technique and stricture localization and length. Before the urethroplasty operation and postoperative 6th month follow-up, the international index of erectile function (IIEF) form (15 questions), was filled, the relevant domains of sexual function; erectile function (Q1,2,3,4,5,15), orgasmic function (Q9,10) and overall satisfaction (Q13,14) were assessed. Results: The mean age of the cases is 54 ± 13. However, preoperative IIEF, sexual satisfaction and orgasmic function averages of patients with a stenosis segment length of 1-3 cm was found to be significantly higher than that of patients with a stenosis segment length of 4-7 cm. Between stenosis segment length groups, there was no statistical difference in terms of preoperative and postoperative sexual functions. And also, there was no statistically significant change in patients' preoperative and postoperative sexual function scores in terms of localization of stricture and surgery techniques. However, there were statistically significant change in the postoperative IIEF and sexual satisfaction averages according to preoperative averages. Conclusion: Our study suggests that urethroplasty surgery itself does not significantly affect erectile function, orgasmic function, and general sexual satisfaction regardless of the type of surgery, localization and length of stenosis. Besides, there was a significant decrease in erectile function in senior adults.


Assuntos
Humanos , Masculino , Adulto , Idoso , Orgasmo , Procedimentos Cirúrgicos Urológicos Masculinos/efeitos adversos , Estreitamento Uretral/cirurgia , Disfunção Erétil/etiologia , Estudos Prospectivos , Pessoa de Meia-Idade
7.
Int Braz J Urol ; 45(1): 118-126, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30521166

RESUMO

OBJECTIVES: To examine the effects of urethroplasty surgery on sexual functions by taking into account age, location of stenosis, length of stenosis and surgical technique parameters. MATERIALS AND METHODS: The prospective study was conducted between January 2015 and August 2017 with 60 cases. Patients were categorized according to age groups (19-65 / 65-75 years), surgery technique and stricture localization and length. Before the urethroplasty operation and postoperative 6th month follow-up, the international index of erectile function (IIEF) form (15 questions), was filled, the relevant domains of sexual function; erectile function (Q1,2,3,4,5,15), orgasmic function (Q9,10) and overall satisfaction (Q13,14) were assessed. RESULTS: The mean age of the cases is 54 ± 13. However, preoperative IIEF, sexual satisfaction and orgasmic function averages of patients with a stenosis segment length of 1-3 cm was found to be significantly higher than that of patients with a stenosis segment length of 4-7 cm. Between stenosis segment length groups, there was no statistical difference in terms of preoperative and postoperative sexual functions. And also, there was no statistically significant change in patients' preoperative and postoperative sexual function scores in terms of localization of stricture and surgery techniques. However, there were statistically significant change in the postoperative IIEF and sexual satisfaction averages according to preoperative averages. CONCLUSION: Our study suggests that urethroplasty surgery itself does not significantly affect erectile function, orgasmic function, and general sexual satisfaction regardless of the type of surgery, localization and length of stenosis. Besides, there was a significant decrease in erectile function in senior adults.


Assuntos
Disfunção Erétil/etiologia , Orgasmo , Estreitamento Uretral/cirurgia , Procedimentos Cirúrgicos Urológicos Masculinos/efeitos adversos , Adulto , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
8.
Int. braz. j. urol ; 44(5): 1005-1013, Sept.-Oct. 2018. tab, graf
Artigo em Inglês | LILACS | ID: biblio-975634

RESUMO

ABSTRACT Objectives: To evaluate protective effects of darbepoetin and tadalafil against ischemia-reperfusion injury in ipsilateral and contralateral testicle. Materials and Methods: Thirty 3-month-old adult male Wistar-Albino rats were randomly divided into 5 groups (A-E). Sham operation was performed in the first group. In Group B, rats did not received any medication after creating 720 degrees torsion of the left testis. The rats in Group C, D and E received darbepoetin, tadalafil, and darbepoetin/tadalafil combination 30 minutes after creating 720 degrees torsion of the left testis, respectively. The testes of rats in these three groups were detorsioned at 90 minutes after drug administration. Both testes were removed at 30 minutes after detorsion. Results: There were significant differences between the groups in terms of the degree of histopathological damage, Johnsen score, fibrosis score and caspase-3 immunoreactivity in the torsioned testes (p: 0.000). The results for each parameter in the left testes were significantly better in the darbepoetin / tadalafil combination group. Similarly, there were also significant differences in the contralateral testes (p: 0.000). Conclusion: The active substances darbepoetin and tadalafil that were used as a combination had protective effects on both testes and produced out better results in preserving testicular histology. Especially in cases where it is not possible to rescue the torsioned testis, this result was more noticeable in the contralateral testis.


Assuntos
Animais , Masculino , Ratos , Torção do Cordão Espermático/tratamento farmacológico , Vasodilatadores/administração & dosagem , Traumatismo por Reperfusão/tratamento farmacológico , Tadalafila/administração & dosagem , Darbepoetina alfa/administração & dosagem , Torção do Cordão Espermático/patologia , Xilazina/administração & dosagem , Imuno-Histoquímica , Distribuição Aleatória , Ratos Wistar , Modelos Animais de Doenças , Ketamina/administração & dosagem
9.
Int Braz J Urol ; 44(5): 1005-1013, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30130015

RESUMO

OBJECTIVES: To evaluate protective effects of darbepoetin and tadalafil against ischemiareperfusion injury in ipsilateral and contralateral testicle. MATERIALS AND METHODS: Thirty 3-month-old adult male Wistar-Albino rats were randomly divided into 5 groups (A-E). Sham operation was performed in the first group. In Group B, rats did not received any medication after creating 720 degrees torsion of the left testis. The rats in Group C, D and E received darbepoetin, tadalafil, and darbepoetin/ tadalafil combination 30 minutes after creating 720 degrees torsion of the left testis, respectively. The testes of rats in these three groups were detorsioned at 90 minutes after drug administration. Both testes were removed at 30 minutes after detorsion. RESULTS: There were significant differences between the groups in terms of the degree of histopathological damage, Johnsen score, fibrosis score and caspase-3 immunoreactivity in the torsioned testes (p: 0.000). The results for each parameter in the left testes were significantly better in the darbepoetin / tadalafil combination group. Similarly, there were also significant differences in the contralateral testes (p: 0.000). CONCLUSION: The active substances darbepoetin and tadalafil that were used as a combination had protective effects on both testes and produced out better results in preserving testicular histology. Especially in cases where it is not possible to rescue the torsioned testis, this result was more noticeable in the contralateral testis.


Assuntos
Darbepoetina alfa/administração & dosagem , Traumatismo por Reperfusão/tratamento farmacológico , Torção do Cordão Espermático/tratamento farmacológico , Tadalafila/administração & dosagem , Vasodilatadores/administração & dosagem , Animais , Modelos Animais de Doenças , Imuno-Histoquímica , Ketamina/administração & dosagem , Masculino , Distribuição Aleatória , Ratos , Ratos Wistar , Torção do Cordão Espermático/patologia , Xilazina/administração & dosagem
10.
Eur Rev Med Pharmacol Sci ; 20(7): 1360-72, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27097960

RESUMO

OBJECTIVE: A reduction in GSH and an increase in free radicals are observed in inflammatory diseases, indicating oxidative stress. Taurine protects cells from the cytotoxic effects of inflammation. There have been limited studies to date evaluating the effect of taurine in oxidative stress-induced vascular dysfunction and its role in vascular inflammatory diseases. Therefore, we aimed to investigate the effect of taurine on the regulation of vascular tonus and vascular inflammatory markers in rabbit aortae and carotid arteries in oxidative stress-induced by GSH depletion. MATERIALS AND METHODS: Rabbits were treated subcutaneously with buthionine sulfoximine (BSO), GSH-depleting compound and/or taurine. Cumulative concentration-response curves for acetylcholine (ACh), phenylephrine and 5-hydroxytriptamine (5-HT) were constructed with or without Nω-nitro-L-arginine (LNA) in the carotid artery and aorta rings. Immunohistochemical staining was performed for TNF-α and IL-1ß. RESULTS: BSO increased ACh-induced NO-dependent relaxations, phenylephrine-induced contractions in the carotid artery and 5-HT induced-contractions in both the carotid artery and the aorta. BSO decreased EDHF dependent relaxations only in the aorta. ACh-induced NO-dependent relaxations and augmented contractions were normalized by taurine. BSO increased TNF-α expressions in both carotid arteries and aortas, which were reversed by taurine. The BSO-induced increase in IL-1ß was reversed by taurine only in aortae. CONCLUSIONS: Treatment with BSO resulted in vascular reactivity changes and increased immunostaining of TNF-α in mainly carotid arteries in this model of oxidative stress. The effect of taurine on BSO-induced vascular reactivity changes varied depending on the vessel. The inhibition of the increase in TNF-α expression by taurine in both carotid arteries and aortae supports the proposal that taurine has a beneficial effect in the treatment of inflammatory diseases such as atherosclerosis.


Assuntos
Aorta/efeitos dos fármacos , Glutationa/metabolismo , Inflamação , Taurina/farmacologia , Acetilcolina/metabolismo , Animais , Aorta/metabolismo , Aorta/patologia , Butionina Sulfoximina/farmacologia , Artérias Carótidas/efeitos dos fármacos , Artérias Carótidas/metabolismo , Artérias Carótidas/patologia , Glutationa/análise , Imuno-Histoquímica , Interleucina-1beta/metabolismo , Masculino , Malondialdeído/análise , Óxido Nítrico/metabolismo , Nitroarginina/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Coelhos , Fator de Necrose Tumoral alfa/metabolismo
11.
Clin Exp Obstet Gynecol ; 41(5): 556-60, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25864259

RESUMO

PURPOSE OF INVESTIGATION: To develop a nomogram for estimating nasal bone length (NBL) at 11(+0) - 13(+6) weeks of gestation in 554 consecutive cases and to determine the value of NBL measurement in screening for chromosomal abnormalities. MATERIALS AND METHODS: NBL and crown-rump length (CRL) were examined in 554 fetuses at 11(+0) - 13(+6) weeks' gestation. A nomogram for NBL was developed with data from 479 healthy fetuses in which fetal profile examination was possible. Reference values, including percentiles, weie calculated for each gestational age. RESULT: A linear correlation was noted between CRL and NBL in healthy fetuses at 11(+0) - 11(+6), 12(+0) - 12(+6) and 13(+0) - 13(+6) weeks of gestation. Mean NBL was 2.18 +/- 0.53 mm, 2.46 +/- 0.45 mm, and 2.91 +/- 0.55 mm in healthy fetuses, for these time frames, respectively. NBL increased significantly with CRL from respective means of 2.26 +/- 0.43, 2.60 +/- 0.48, 2.77 +/- 0.43, and 3.16 +/- 0.52 mm at 45 - 54.9, 55 - 64.9, 65 +/- 74.9, and 75 - 84 mm. CONCLUSION: The authors developed a NBL nomogram with data from normal, healthy Turkish fetuses at 11(+0) - 13(+6) weeks of gestation. These reference ranges may prove useful in prenatal screening and diagnosis of syndromes known to be associated with nasal hypoplasia.


Assuntos
Transtornos Cromossômicos/diagnóstico por imagem , Osso Nasal/embriologia , Diagnóstico Pré-Natal/métodos , Adolescente , Adulto , Estatura Cabeça-Cóccix , Síndrome de Down/diagnóstico , Feminino , Idade Gestacional , Humanos , Pessoa de Meia-Idade , Osso Nasal/diagnóstico por imagem , Gravidez , Primeiro Trimestre da Gravidez , Valores de Referência , Ultrassonografia Pré-Natal , Adulto Jovem
12.
Eur J Obstet Gynecol Reprod Biol ; 170(1): 188-92, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23880596

RESUMO

OBJECTIVE: Familial recurrent hydatidiform mole is an exceedingly rare clinical condition. Affected women are predisposed to molar pregnancies of diploid, biparental origin rather than androgenetic origin. At present, NLRP7 and KHDC3L (C6orf221) are the only genes known to be associated with familial recurrent hydatidiform mole. This study investigated the genetic dispositions in two large Turkish families with recurring molar conceptuses. STUDY DESIGN: Copy number variation analysis was performed followed by NLRP7 gene sequencing. The finding of a mono-allelic condition in one family led to investigation of the adjacent NLRP2 gene and recently associated KHDC3L gene. Sampled molar tissues were genotyped using microsatellite markers. RESULTS: In one family, a homozygous single nucleotide insertion that caused a frameshift leading to an early stop codon, c.2940_2941insC (p.Glu981ArgfsX13), was identified in the affected sisters. In the other family, a heterozygous 60-kb deletion eliminating substantial portions of the NLRP2 and NLRP7 genes on one allele was found. Screening of NLRP2 and KHDC3L genes revealed no alterations that were considered to be pathological. Genotyping of six independent molar conceptions revealed that five were of diploid, biparental origin and one was of diandric, triploid origin. CONCLUSIONS: Two novel protein-truncating mutations in the NLRP7 gene were found to be associated with familial recurrent hydatidiform mole. Mutations in the NLRP7 gene causing recurrent biparental hydatidiform mole may also be associated with other forms of recurrent reproductive wastage.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Mola Hidatiforme/genética , Adulto , Códon sem Sentido , Análise Mutacional de DNA , Feminino , Humanos , Mola Hidatiforme/etiologia , Linhagem , Gravidez , Recidiva
13.
Am J Med Genet A ; 158A(1): 236-44, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22140057

RESUMO

We report on a boy born to consanguineous parents, who had hypertelorism, a broad nasal bridge, ridge and tip, bifid nasal tip, cleft alae nasi, broad columella, unilateral preauricular tag, shallow labiogingival sulcus, and bilateral large parietal foramina. Cranial MRI revealed a kinked corpus body and small cerebellar vermis. Molecular analysis uncovered a homozygous c.673C > G (p.Q225E) mutation in ALX4 gene. We compare the relatively mild phenotype in the patient to the more marked phenotype described in other patients with homozygous ALX4 mutations, and to the phenotypes in patients with mutations in other ALX genes.


Assuntos
Proteínas de Ligação a DNA/genética , Encefalocele/genética , Nariz/anormalidades , Fatores de Transcrição/genética , Criança , Consanguinidade , Orelha/anormalidades , Estudos de Associação Genética , Homozigoto , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação de Sentido Incorreto , Osso Parietal/anormalidades , Fenótipo
14.
Arch Gynecol Obstet ; 283(4): 795-8, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20237934

RESUMO

OBJECTIVE: To evaluate the effects of obesity on the perioperative outcomes in women who underwent vaginal hysterectomy. STUDY DESIGN: In this retrospective cohort study of all women who underwent vaginal hysterectomy for benign disorders at Temple University from January 1997 to December 2002, perioperative indices were compared between 149 obese (BMI ≥ 30 kg/m(2)) and 175 non-obese women (BMI < 30 kg/m(2)). RESULTS: The groups were similar with respect to age, parity, uterine weight, race, surgical indication, and previous pelvic surgery. Among medical conditions, hypertension and diabetes were significantly more common in obese women. Conversion to laparotomy occurred at similar rates in both obese (3.3%) and non-obese (5.7%) women. There was no significant difference between the groups regarding the operative time, length of hospital stay, transfusion rate, perioperative hemoglobin change, and perioperative complications (p < 0.05). CONCLUSION: Obesity does not affect the perioperative outcomes and surgical complications of vaginal hysterectomy.


Assuntos
Doenças dos Genitais Femininos/cirurgia , Histerectomia Vaginal/efeitos adversos , Obesidade/complicações , Complicações Pós-Operatórias/etiologia , Adulto , Feminino , Doenças dos Genitais Femininos/complicações , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
15.
Obstet Gynecol ; 116 Suppl 2: 496-498, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20664431

RESUMO

BACKGROUND: Complications from pessaries are rare and occur predominantly as a result of neglect and loss to follow-up. We report a case of vaginal evisceration at the time of pessary insertion, which was repaired with concomitant colpocleisis. CASE: An 82-year-old woman with stage IV pelvic organ prolapse (POP) presented for a routine pessary fitting, which resulted in vaginal evisceration and displacement of the pessary into the abdomen. She was treated successfully with immediate colpocleisis after transvaginal removal of the pessary and repair of the rupture site. CONCLUSION: Pessary insertion can result in vaginal evisceration. Both POP and vaginal rupture can be successfully treated with removal of the pessary, closure of the vaginal defect, and LeFort colpocleisis all in one session.


Assuntos
Migração de Corpo Estranho/terapia , Prolapso de Órgão Pélvico/terapia , Pessários/efeitos adversos , Vagina/lesões , Idoso de 80 Anos ou mais , Remoção de Dispositivo , Feminino , Procedimentos Cirúrgicos em Ginecologia , Humanos , Ruptura/etiologia , Vagina/cirurgia
16.
Am J Obstet Gynecol ; 201(5): 536.e1-7, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19879396

RESUMO

OBJECTIVE: The purpose of this study was to compare perioperative outcome measures of laparoscopic supracervical (LSH) and total hysterectomies (TLH). STUDY DESIGN: This is a retrospective analysis of 1016 LSHs and TLHs at a tertiary medical center between November 1999 and August 2008 in a multivariate logistic regression model. RESULTS: Overall, the groups were similar. Most of the perioperative outcome measures did not differ statistically between the groups. However, the risk of serious complications was higher for TLH (5.8% vs 2.5%; odds ratio [OR], 2.72; 95% confidence interval [CI], 1.35-5.49). Specifically, urinary tract injury occurred more frequently in TLH (2.2% vs 0.5%; OR, 4.75; 95% CI, 1.21-18.56). Conversion to laparotomy was significantly more common in TLH (5.8% vs 4.1%; OR, 2.25; 95% CI, 1.20-4.22). CONCLUSION: In this largest comparison, short-term morbidity of TLH and LSH is overall similar. TLH presents a clinically small, but statistically significant, increased risk of urinary tract injury and conversion to laparotomy.


Assuntos
Histerectomia/métodos , Laparoscopia , Adulto , Estudos de Coortes , Feminino , Humanos , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
17.
Obstet Gynecol ; 114(3): 547-550, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19701033

RESUMO

OBJECTIVE: To compare the pain perception between lidocaine and plain aqueous gel during assessment of postvoid residual volume and the Q-tip test. METHODS: : Patients were randomly assigned to either to 2% lidocaine hydrochloride jelly or plain aqueous gel. The allocated gel was first used to lubricate a catheter that was inserted into the bladder to measure the postvoid residual volume. After removal of the catheter, a cotton swab, coated with the same allocated gel, was advanced to the urethrovesical junction until resistance was felt. The angle of the swab with the horizontal plane was measured at rest and with Valsalva maneuver. Relevant baseline characteristics and the Wong-Baker FACES pain scores (where 0 is for no pain and 5 for worst pain) were compared. RESULTS: After randomization, lidocaine and the plain aqueous gel arms consisted of 69 and 68 women, respectively. Baseline characteristics of the groups were similar. Significantly fewer women in the lidocaine group (62.3%) reported any pain than those allocated to plain aqueous gel (80.9%) (odds ratio 0.39, 95% confidence interval 0.18-0.85). The median pain score was significantly lower in the lidocaine group (1, range 0-5) compared with 2 (range 0-4), P<.001). CONCLUSION: When compared with plain aqueous gel, 2% lidocaine jelly significantly reduces pain perception during evaluation of postvoid residual volume and the Q-tip test. LEVEL OF EVIDENCE: I.


Assuntos
Anestésicos Locais/uso terapêutico , Lidocaína/uso terapêutico , Dor/etiologia , Dor/prevenção & controle , Cateterismo Urinário/efeitos adversos , Incontinência Urinária/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Géis , Humanos , Pessoa de Meia-Idade , Medição da Dor , Resultado do Tratamento , Incontinência Urinária/etiologia , Incontinência Urinária/terapia , Manobra de Valsalva
19.
Arch Gynecol Obstet ; 278(2): 187-9, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18196256

RESUMO

BACKGROUND: Endometrial ablation with bipolar radiofrequency energy (NovaSure) for dysfunctional uterine bleeding has gained wide acceptance due to its ease and efficacy. CASE: A 45-year-old, gravida three, para two, female developed symptomatic Stage 3 pelvic organ prolapse (POP) 1 month after endometrial ablation using NovaSure. CONCLUSION: To our knowledge, this is the first published case of new-onset POP briefly after an endometrial ablation. It is not clear whether there is a causal association between the ablation procedure and de novo POP. Should there be any additional cases of de novo POP post endometrial ablation, further investigation would be warranted.


Assuntos
Ablação por Cateter/efeitos adversos , Metrorragia/terapia , Prolapso Uterino/etiologia , Feminino , Humanos , Pessoa de Meia-Idade , Prolapso Uterino/cirurgia
20.
Obstet Gynecol ; 110(6): 1297-300, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18055723

RESUMO

OBJECTIVE: To compare two commonly used modifications to the standard Q-tip test for urethral hypermobility: catheter alone and catheter with Q-tip. METHODS: All women referred for the evaluation of urinary incontinence or pelvic organ prolapse were included in the study. A postvoid residual urine was collected on each patient and the angle of the urethra with the horizontal plane was measured at rest and with Valsalva with the Q-tip, catheter alone, and catheter with Q-tip. The test was considered positive if the angle of excursion was 30 degrees or more. RESULTS: In this group of 100 consecutive women with urinary incontinence or pelvic organ prolapse, the mean change in the angle was significantly different from the standard Q-tip test (51 degrees) when catheter alone (35 degrees, P<.001) or catheter with Q-tip modifications were used (44 degrees, P<.001). This difference was due to a significant reduction in the resting and Valsalva maneuver angles with the catheter alone, and a significant decrease only in the Valsalva maneuver angle with the catheter with Q-tip method (P<.001). The percentage of positive tests for the standard Q-tip test (92%) was significantly different from the catheter only method (63%, P<.001), and from the catheter with Q-tip technique (83%, P=.021). The "best match" values of 10 degrees for the catheter alone, and 15 degrees for the catheter with Q-tip methods produce the best equivalent results at this time. CONCLUSION: The use of a catheter, instead of a Q-tip, in the evaluation of urethral hypermobility resulted in reduced angles of excursion from resting to Valsalva maneuver. LEVEL OF EVIDENCE: III.


Assuntos
Técnicas de Diagnóstico Urológico/instrumentação , Incontinência Urinária por Estresse/diagnóstico , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Cateterismo Urinário , Manobra de Valsalva
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