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1.
J Mol Cell Cardiol ; 127: 125-133, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30550751

RESUMO

Huntington's disease (HD) is a fatal hereditary neurodegenerative disorder, best known for its clinical triad of progressive motor impairment, cognitive deficits and psychiatric disturbances, is caused by CAG-repeat expansion in exon 1 of Huntingtin (HTT). However, in addition to the neurological disease, mutant HTT (mHTT), which is ubiquitously expressed in all tissues, impairs other organ systems. Not surprisingly, cardiovascular dysautonomia as well as the deterioration of circadian rhythms are among the earliest detectable pathophysiological changes in individuals with HD. Mitochondrial dysfunction in the brain and skeletal muscle in HD has been well documented, as the disease progresses. However, not much is known about mitochondrial abnormalities in the heart. In this study, we describe a role for Drp1/Fis1-mediated excessive mitochondrial fission and dysfunction, associated with lysosomal dysfunction in H9C2 expressing long polyglutamine repeat (Q73) and in human iPSC-derived cardiomyocytes transfected with Q77. Expression of long polyglutamine repeat led to reduced ATP production and mitochondrial fragmentation. We observed an increased accumulation of damaged mitochondria in the lysosome that was coupled with lysosomal dysfunction. Importantly, reducing Drp1/Fis1-mediated mitochondrial damage significantly improved mitochondrial function and cell survival. Finally, reducing Fis1-mediated Drp1 recruitment to the mitochondria, using the selective inhibitor of this interaction, P110, improved mitochondrial structure in the cardiac tissue of R6/2 mice. We suggest that drugs focusing on the central nervous system will not address mitochondrial function across all organs, and therefore will not be a sufficient strategy to treat or slow down HD disease progression.


Assuntos
Dinaminas/metabolismo , Doença de Huntington/metabolismo , Doença de Huntington/patologia , Lisossomos/metabolismo , Mitocôndrias/metabolismo , Proteínas Mitocondriais/metabolismo , Animais , Apoptose/efeitos dos fármacos , Autofagia/efeitos dos fármacos , Linhagem Celular , Modelos Animais de Doenças , Metabolismo Energético , GTP Fosfo-Hidrolases/farmacologia , Humanos , Células-Tronco Pluripotentes Induzidas/efeitos dos fármacos , Células-Tronco Pluripotentes Induzidas/metabolismo , Lisossomos/ultraestrutura , Camundongos Transgênicos , Mitocôndrias/efeitos dos fármacos , Mitocôndrias/ultraestrutura , Miócitos Cardíacos/efeitos dos fármacos , Miócitos Cardíacos/metabolismo , Fragmentos de Peptídeos/farmacologia , Peptídeos/metabolismo , Expansão das Repetições de Trinucleotídeos
2.
J Appl Clin Med Phys ; 19(5): 547-557, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29998618

RESUMO

PURPOSE: The challenges of accurate dosimetry for stereotactic radiotherapy (SRT) with small unflattened radiation fields have been widely reported in the literature. In this case, suitable dosimeters would have to offer a submillimeter spatial resolution. The CyberKnife® (Accuray Inc., Sunnyvale, CA, USA) is an SRT-dedicated linear accelerator (linac), which can deliver treatments with submillimeter positional accuracy using circular fields. Beams are delivered with the desired field size using fixed cones, the InCise™ multileaf collimator or a dynamic variable-aperture Iris™ collimator. The latter, allowing for field sizes to be varied during treatment delivery, has the potential to decrease treatment time, but its reproducibility in terms of output factors (OFs) and dose profiles (DPs) needs to be verified. METHODS: A 2D monolithic silicon array detector, the "Octa", was evaluated for dosimetric quality assurance (QA) for a CyberKnife system. OFs, DPs, percentage depth-dose (PDD) and tissue maximum ratio (TMR) were investigated, and results were benchmarked against the PTW SRS diode. Cross-plane, in-plane and 2 diagonal dose profiles were measured simultaneously with high spatial resolution (0.3 mm). Monte Carlo (MC) simulations with a GEANT4 (GEometry ANd Tracking 4) tool-kit were added to the study to support the experimental characterization of the detector response. RESULTS: For fixed cones and the Iris, for all field sizes investigated in the range between 5 and 60 mm diameter, OFs, PDDs, TMRs, and DPs in terms of FWHM measured by the Octa were accurate within 3% when benchmarked against the SRS diode and MC calculations. CONCLUSIONS: The Octa was shown to be an accurate dosimeter for measurements with a 6 MV FFF beam delivered with a CyberKnife system. The detector enabled real-time dosimetric verification for the variable aperture Iris collimator, yielding OFs and DPs consistent with those obtained with alternative methods.


Assuntos
Radiocirurgia , Método de Monte Carlo , Aceleradores de Partículas , Radiometria , Reprodutibilidade dos Testes
5.
Hum Reprod ; 31(6): 1219-23, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-27094477

RESUMO

STUDY QUESTION: Which essential items should be recorded before, during and after endometriosis surgery and in clinical outcome based surgical trials in patients with deep endometriosis (DE)? SUMMARY ANSWER: A DE surgical sheet (DESS) was developed for standardized reporting of the surgical treatment of DE and an international expert consensus proposal on relevant items that should be recorded in surgical outcome trials in women with DE. WHAT IS KNOWN ALREADY: Surgery is an important treatment for symptomatic DE. So far, data have been reported in such a way that comparison of different surgical techniques is impossible. Therefore, we present an international expert proposal for standardized reporting of surgical treatment and surgical outcome trials in women with DE. STUDY DESIGN, SIZE, DURATION: International expert consensus based on a systematic review of literature. PARTICIPANTS/MATERIALS, SETTING, METHODS: Taking into account recommendations from Consolidated Standards of Reporting Trials (CONSORT), the Innovation Development Exploration Assessment and Long-term Study (IDEAL), the Initiative on Methods, Measurement and Pain Assessment in Clinical trials (IMMPACT) and the World Endometriosis Research Foundation Phenome and Biobanking Harmonisation Project (WERF EPHect), a systematic literature review on surgical treatment of DE was performed and resulted in a proposal for standardized reporting, adapted by contributions from eight members of the multidisciplinary Leuven University Hospitals Endometriosis Care Program, from 18 international experts and from audience feedback during three international meetings. MAIN RESULTS AND THE ROLE OF CHANCE: We have developed the DESS to record in detail the surgical procedures for DE, and an international consensus on pre-, intra- and post-operative data that should be recorded in surgical outcome trials on DE. LIMITATIONS, REASONS FOR CAUTION: The recommendations in this paper represent a consensus among international experts based on a systematic review of the literature. For several items and recommendations, high-quality RCTs were not available. Further research is needed to validate and evaluate the recommendations presented here. WIDER IMPLICATIONS OF THE FINDINGS: This international expert consensus for standardized reporting of surgical treatment in women with DE, based on a systematic literature review and international consensus, can be used as a guideline to record and report surgical management of patients with DE and as a guideline to design, execute, interpret and compare clinical trials in this patient population. STUDY FUNDING/COMPETING INTERESTS: None of the authors received funding for the development of this paper. M.A. reports personal fees and non-financial support from Bayer Pharma outside the submitted work; H.T. reports a grant from Pfizer and personal fees for being on the advisory board of Perrigo, Abbvie, Allergan and SPD. TRIAL REGISTRATION NUMBER: N/A.


Assuntos
Endometriose/cirurgia , Procedimentos Cirúrgicos em Ginecologia/métodos , Protocolos Clínicos , Consenso , Prova Pericial , Feminino , Humanos , Resultado do Tratamento
6.
Leukemia ; 30(6): 1375-87, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26932576

RESUMO

The Ets family transcription factor PU.1 and the interferon regulatory factor (IRF)4 and IRF8 regulate gene expression by binding to composite DNA sequences known as Ets/interferon consensus elements. Although all three factors are expressed from the onset of B-cell development, single deficiency of these factors in B-cell progenitors only mildly impacts on bone marrow B lymphopoiesis. Here we tested whether PU.1 cooperates with IRF factors in regulating early B-cell development. Lack of PU.1 and IRF4 resulted in a partial block in development the pre-B-cell stage. The combined deletion of PU.1 and IRF8 reduced recirculating B-cell numbers. Strikingly, all PU.1/IRF4 and ~50% of PU.1/IRF8 double deficient mice developed pre-B-cell acute lymphoblastic leukemia (B-ALL) associated with reduced expression of the established B-lineage tumor suppressor genes, Ikaros and Spi-B. These genes are directly regulated by PU.1/IRF4/IRF8, and restoration of Ikaros or Spi-B expression inhibited leukemic cell growth. In summary, we demonstrate that PU.1, IRF4 and IRF8 cooperate to regulate early B-cell development and to prevent pre-B-ALL formation.


Assuntos
Fatores Reguladores de Interferon/fisiologia , Proteínas Proto-Oncogênicas/fisiologia , Transativadores/fisiologia , Animais , Linfócitos B/citologia , Regulação da Expressão Gênica , Fatores Reguladores de Interferon/genética , Linfopoese , Camundongos , Camundongos Knockout , Leucemia-Linfoma Linfoblástico de Células Precursoras B/prevenção & controle , Proteínas Proto-Oncogênicas/genética , Transativadores/genética
7.
Geburtshilfe Frauenheilkd ; 76(2): 134-144, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26941444

RESUMO

Purpose: The aim was to establish an official interdisciplinary guideline, published and coordinated by the German Society of Gynecology and Obstetrics (DGGG). The guideline was developed for use in German-speaking countries. In addition to the Germany Society of Gynecology and Obstetrics, the guideline has also been approved by the Swiss Society of Gynecology and Obstetrics (SGGG) and the Austrian Society of Gynecology and Obstetrics (OEGGG). The aim was to standardize diagnostic procedures and the management of gestational and non-gestational trophoblastic disease in accordance with the principles of evidence-based medicine, drawing on the current literature and the experience of the colleagues involved in compiling the guideline. Methods: This s2k guideline represents the consensus of a representative panel of experts with a range of different professional backgrounds commissioned by the DGGG. Following a review of the international literature and international guidelines on trophoblastic tumors, a structural consensus was achieved in a formalized, multi-step procedure. This was done using uniform definitions, objective assessments, and standardized management protocols. Recommendations: The recommendations of the guideline cover the epidemiology, classification and staging of trophoblastic tumors; the measurement of human chorionic gonadotropin (hCG) levels in serum, and the diagnosis, management, and follow-up of villous trophoblastic tumors (e.g., partial mole, hydatidiform mole, invasive mole) and non-villous trophoblastic tumors (placental site nodule, exaggerated placental site, placental site tumor, epitheloid trophoblastic tumor, and choriocarcinoma).

8.
Urologe A ; 54(5): 634-40, 2015 May.
Artigo em Alemão | MEDLINE | ID: mdl-25987327

RESUMO

Epispadias is the mildest form of the exstrophy-epispadias complex and rarely occurs in an isolated form. The characteristic clinical sign is a mucosal strip on the penile dorsum. Clinically, epispadias presents with urinary incontinence. Primary surgical correction is recommended at the age of 12 months and should only be performed at a specialized center. During follow-up, further bladder neck surgery may be necessary. Despite a functional and cosmetically appealing penis, psychosocial and psychosexual development of the affected individuals can severely be affected. The incidence of urethral duplication remains unclear. Several classifications reflect the anatomical variation. The clinical presentation depends on the continuity of the duplicated urethra and its relationship to the sphincteric mechanism. In addition to clinical examination, a voiding cysturethrography is part of the basic diagnostic workup. After endoscopic examination an individual operative approach can be defined.


Assuntos
Hipospadia/diagnóstico , Hipospadia/cirurgia , Uretra/anormalidades , Uretra/cirurgia , Doenças Uretrais/diagnóstico , Doenças Uretrais/cirurgia , Medicina Baseada em Evidências , Seguimentos , Humanos , Hipospadia/complicações , Lactente , Recém-Nascido , Masculino , Procedimentos de Cirurgia Plástica/métodos , Resultado do Tratamento , Doenças Uretrais/etiologia , Procedimentos Cirúrgicos Urológicos Masculinos/métodos
9.
Eur J Nucl Med Mol Imaging ; 41(1): 59-67, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23974666

RESUMO

PURPOSE: This study was designed to assess the additional value of SPECT/CT of the trunk used in conjunction with conventional nuclear imaging and its effects on patient management in a large patient series. METHODS: In 353 patients, whole-body scintigraphy (WBS), SPECT, and SPECT/CT were prospectively performed for staging and restaging. SPECT/CT of the trunk was performed in all patients. In the 308 evaluable patients (211 with breast cancer, 97 with prostate cancer), clinical follow-up was used as the gold standard. Bone metastases were confirmed in 72 patients and excluded in 236. Multistep analyses per lesion and per patient were performed. Clinical relevance was expressed in terms of downstaging and upstaging rates on a per-patient basis. RESULTS: In the total patient group, sensitivities, specificities, and negative and positive predictive values on a per-patient basis were 93 %, 78 %, 95 % and 59 % for WBS, 94 %, 71 %, 97 % and 53 % for SPECT, and 97 %, 94 %, 97 % and 88 % for SPECT/CT, respectively. In all subgroups, specificity and positive predictive value were significantly (p<0.01) better with SPECT/CT. Downstaging of metastatic disease in the total, breast cancer and prostate cancer groups using SPECT/CT was possible in 32.1 %, 33.8 % and 29.5 % of patients, respectively. Upstaging in previously negative patients by additional SPECT/CT was observed in three breast cancer patients (2.1 %). Further diagnostic imaging procedures for unclear scintigraphic findings were necessary in only 2.5 % of patients. SPECT/CT improved diagnostic accuracy for defining the extent of multifocal metastatic disease in 34.6 % of these patients. CONCLUSIONS: SPECT/CT significantly improved the specificity and positive predictive value of bone scintigraphy in cancer patients. In breast cancer patients, we found a slight increase in sensitivity. SPECT/CT had a significant effect on clinical management because of correct downstaging and upstaging, better definition of the extent of metastases, and a reduction in further diagnostic procedures.


Assuntos
Neoplasias Ósseas/secundário , Osso e Ossos/diagnóstico por imagem , Imagem Multimodal , Tomografia Computadorizada de Emissão de Fóton Único , Tomografia Computadorizada por Raios X , Imagem Corporal Total , Neoplasias Ósseas/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC
10.
N Z Vet J ; 60(4): 258-60, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22712778

RESUMO

CASE HISTORY: In 2008, a 3-year-old female Labrador Retriever was presented for routine breeding soundness evaluation. CLINICAL FINDINGS: Vaginal endoscopy revealed an 8-cm long and 1-cm thick vaginal septum. Surgical resection of the septum was performed under general anaesthesia using a bipolar high-frequency resectoscope. Three months later the bitch was naturally mated and subsequently delivered five male and two female puppies without complications. Both female puppies were examined at the age of 12 and 15 months and showed a vaginal septum with a diameter of 0.3 and 0.5 cm, respectively. DIAGNOSIS: Vaginal septa in three related bitches. CLINICAL RELEVANCE: This is the first report describing the use of a bipolar high-frequency resectoscope for vaginal surgery in dogs. The septum could be resected quickly, with preservation of surrounding structures. Furthermore, it is the first report collecting information about familial presentation of vaginal septa in female dogs. Based on this case, we suggest that consideration should be given to the possible risk of inheritance of vaginal septa before considering surgical resection and breeding of female dogs.


Assuntos
Cães/anormalidades , Vagina/anormalidades , Animais , Cães/cirurgia , Feminino , Vagina/cirurgia
11.
Aktuelle Urol ; 43(2): 104-11, 2012 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-22454262

RESUMO

Painless scrotal swelling must always be considered as a potential malignant testicular tumour until proven otherwise. Prepubertal testicular tumours are seldom entities, for their differential diagnosis testicular sonography is gaining increasing importance. Although, according to national and international tumour registries, most patients tend to have malignant tumours, some clinical series from paediatric centres confirm that prepubertal testicular tumours are mainly benign lesions, especially up to the age of 12 years. Testis-sparing procedures are favoured when AFP is in a normal range and testicular parenchyma is detected sonographically. Oncological principles should be applied to paediatric patients consequently, staging examinations should be requested when a definite histology is proven. Cases should be reported to national tumour registries and, in addition to close surveillance, in some cases adjuvant therapy is necessary. In addition to the clinical guidelines from the tumour registries, differential diagnosis, testis-sparing surgery and the presence of TIN in the paediatric population should be discussed.


Assuntos
Sistema de Registros , Neoplasias Testiculares/diagnóstico , Adolescente , Fatores Etários , Criança , Pré-Escolar , Terapia Combinada , Diagnóstico Diferencial , Fidelidade a Diretrizes , Inquéritos Epidemiológicos , Humanos , Lactente , Recém-Nascido , Masculino , Estadiamento de Neoplasias , Orquiectomia , Prognóstico , Estudos Retrospectivos , Doenças Testiculares/diagnóstico , Doenças Testiculares/patologia , Neoplasias Testiculares/patologia , Neoplasias Testiculares/terapia , Testículo/patologia , Ultrassonografia , alfa-Fetoproteínas/análise
12.
Gene Expr Patterns ; 12(3-4): 117-22, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22330030

RESUMO

Semaphorins are a large family of guidance molecules identified by an extracellular SEMA domain. Classes 1 and 2 are derived from invertebrates, classes 3-7 are vertebrate and class 8 (v) are viral semaphorins. Class 6 semaphorins are reported to have a wide variety of roles including in axon guidance, transcriptional regulation and cancer. Here we report the identification and expression of four class 6 semaphorins (6A, 6Ba, 6Bb and 6Dl) in three stages of larval development in zebrafish (24, 48 and 72 hours postfertilization). Our data indicate that each of the class 6 semaphorins shows a distinct pattern of expression in the developing nervous system that is dynamic over the first 3 days of embryonic development. These data suggest that the individual class 6 semaphorins have diverse roles in nervous system development.


Assuntos
Axônios/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Semaforinas/genética , Peixe-Zebra/genética , Animais , Mesencéfalo/citologia , Mesencéfalo/metabolismo , Filogenia , Células Ganglionares da Retina/metabolismo , Semaforinas/metabolismo , Colículos Superiores/citologia , Colículos Superiores/metabolismo , Peixe-Zebra/embriologia , Proteínas de Peixe-Zebra/genética , Proteínas de Peixe-Zebra/metabolismo
13.
Anticancer Res ; 31(8): 2657-60, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21778319

RESUMO

In the present study, we report the first analysis of the clinical management [corrected] of patients with primary ovarian cancer following the summarized data of the Joint Clinical Registries of the Coordinating Tumor Center of Berlin (Dachverband Tumorzentrum Berlin e.V.). All data were summarized for the period of 2005 to 2008 regarding age, histopathology, time of surgical intervention, follow-up and survival, based on 1124 provided data sets of patients with suspected ovarian tumours. We identified 946 patients with a diagnosis of primary ovarian cancer, mostly of advanced T3 tumour stage (63.7%), FIGO III and IV stage (40.6%) or grade II and III (91%) histology. The median age at time of diagnosis was 61 years (range 15 to 94 years). Most patients (n=414, 69.8%) underwent cytoreductive surgery within one month of diagnosis. The median follow-up period was 26 months; 241 patients died in the analyzed period. The calculated 3-year survival rate was 63.3%, although the median overall survival has not yet been reached. We detected positive correlation of tumour stage (p<0.001) and of FIGO stage (p<0.001) with survival, and these were evaluated as being prognostically significant. The implementation of institutional based clinical registries as part of the modern clinical management of patients with ovarian cancer is feasible and well accepted inside the gynaecological departments of Berlin.


Assuntos
Neoplasias Ovarianas/cirurgia , Sistema de Registros , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Berlim , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/patologia , Taxa de Sobrevida , Adulto Jovem
14.
Urologe A ; 50(5): 573-8, 2011 May.
Artigo em Alemão | MEDLINE | ID: mdl-21503664

RESUMO

Laparoscopy is an established diagnostic procedure but is less frequently used as a therapeutic method for impalpable testes. To compare the results of the classic two-stage orchidopexy described by Fowler-Stephens with a testicular vessel-sparing single-stage approach in the management of intra-abdominal testes we retrospectively analyzed our data.From January 2005 to September 2010, 105 patients (mean age 32 months) underwent laparoscopy for impalpable testes. In cases of intra-abdominal testes, laparoscopic orchidopexy was performed either in a two-stage procedure including initial ligation of the testicular vessels or as a direct single-stage procedure without ligation of the vessels. The results of both approaches were evaluated postoperatively clinically and by ultrasonography. Among the 122 impalpable testes 63 were located intra-abdominally; single-stage orchidopexy was performed in 29 testes whereas a two-stage approach was conducted in 14 testes. Fourteen gonads had to be removed due to atrophy and in six cases no testis was found at all. In the other 59 cases inguinal exploration followed resulting in 22 orchidopexies, 34 removals and 3 blind-ending vessels. During a mean follow-up of 17 months none of the 29 testes treated by single-stage orchidopexy atrophied or reascended. By contrast, two cases of atrophy, one reascent and one subumbilical wound infection occurred after the two-stage procedure. Considering our excellent experiences with single-stage management, we conclude that the single-stage approach is a reliable, safe and efficacious treatment modality of intra-abdominal testes. However, the two-stage procedure including testicular vessel ligation should be restricted to high abdominal testes with very short vessels.


Assuntos
Criptorquidismo/cirurgia , Laparoscopia/métodos , Orquidopexia/métodos , Pré-Escolar , Feminino , Humanos , Laparoscopia/efeitos adversos , Laparoscopia/instrumentação , Masculino , Orquidopexia/efeitos adversos , Orquidopexia/instrumentação , Resultado do Tratamento
15.
Urologe A ; 50(5): 566-72, 2011 May.
Artigo em Alemão | MEDLINE | ID: mdl-21503665

RESUMO

Regional analgesia is firmly established in modern pediatric anesthetic practice and its popularity continues to grow. In our department continuous epidural anesthesia (CEA) is a frequently used technique of pain management following major reconstructive procedures of the lower urinary tract. The aim of this study was to investigate the efficacy, safety, and potential benefits of CEA over standard analgesics.We retrospectively reviewed the records of 21 infants who underwent single-stage bladder exstrophy repair in our department. In 15 children an epidural catheter was placed preoperatively for CEA; 6 patients treated without CEA served as controls. Total doses of narcotics and analgesics, length of intensive care unit (ICU) stay and ventilatory assistance, time to first bowel activity, anticholinergic requirements, and CEA-related side effects were documented and compared for both groups.Children given epidural anesthesia required six- to tenfold lower doses of morphine intra- and postoperatively compared to those without CEA; ventilatory support upon completion of surgery was remarkably shorter (59 versus 210 min) in the CEA group as well as ICU stay (1.1 versus 1.8 days). The total consumption of anticholinergics was twice as high as in patients without CEA. There were no relevant CEA-related complications.Being a retrospective audit of practice in our institution with a small number of patients, our results are in line with previously published data on CEA in pediatric patients. CEA has been shown to significantly reduce the need for anesthetics and morphine and allows early extubation with all subsequent advantages for a speedy recovery post surgery. Thus, the technique is to be recommended as a safe and efficacious method for pain management following major reconstructive surgery in pediatric urology. Importantly, this type of anesthesia should be performed only by experienced anesthesiologists in institutions where appropriate equipment, staff, and monitoring are available.


Assuntos
Anestesia Epidural , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/prevenção & controle , Procedimentos Cirúrgicos Urológicos/efeitos adversos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Assistência Perioperatória/métodos , Estudos Retrospectivos , Resultado do Tratamento
16.
Rofo ; 183(5): 423-31, 2011 May.
Artigo em Alemão | MEDLINE | ID: mdl-21246473

RESUMO

Endometriosis is a disease of the uterus with displacement of endometrium-like tissue outside the endometrium. Endometriosis is a common benign chronic often debilitating disease that primarily affects young woman. The estimated prevalence is about 10 %. In addition to the uterus and ovaries, clinically important localisations are the rectovaginal space, rectum, sigmoid colon, urinary bladder, ureter and peritoneum. The most common localisation outside the pelvis is the abdominal wall. Today, MRI is one of the most important tools in the diagnosis of endometriosis. The detection of peritoneal manifestations and the exact definition of the depth of infiltration in the rectum, sigmoid colon and bladder walls are limitations of MRI.


Assuntos
Endometriose/diagnóstico , Doenças dos Genitais Femininos/diagnóstico , Processamento de Imagem Assistida por Computador , Enteropatias/diagnóstico , Imageamento por Ressonância Magnética , Doenças Peritoneais/diagnóstico , Doenças Ureterais/diagnóstico , Doenças da Bexiga Urinária/diagnóstico , Diagnóstico Diferencial , Endométrio/patologia , Feminino , Humanos , Miométrio/patologia , Sensibilidade e Especificidade
17.
Ultrasound Obstet Gynecol ; 34(1): 98-103, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19565527

RESUMO

OBJECTIVE: The congenital bony and musculoskeletal defect of the pelvis in bladder exstrophy-epispadias complex (BEEC) highly predisposes females to uterine prolapse. There is a paucity of knowledge on the anatomy of the pelvic soft tissue structures following surgery. The aim of this study was to investigate with transperineal three-dimensional (3D) ultrasound the pubovisceral muscle in females with BEEC who had undergone surgical reconstruction in childhood. METHODS: In a cross-sectional observational study we examined 12 Caucasian female BEEC patients, mean age 19.9 (range, 15.5-27.4) years, from a single center after a single-stage functional reconstruction with closure of the anterior pelvic ring. As a control group we used 13 Caucasian nulligravidae. 3D transperineal ultrasound volumes were acquired with the patient at rest in the supine position and with an empty bladder, and established pelvic floor parameters were measured. Analysis was conducted offline by two independent investigators. RESULTS: No statistical difference between the BEEC patients and the control group was observed in the anteroposterior diameter or the area of the levator hiatus, or in the maximal thickness of the levator muscle. However, significantly greater values were observed in BEEC patients in the transverse diameter of the levator hiatus (mean, 4.31 vs. 3.81 cm, P = 0.046) and in the levator angle (mean, 80.1 vs. 70.0 degrees, P = 0.040). The measurements obtained in the control group were consistent with those previously reported in the literature. CONCLUSIONS: This is the first study showing that transperineal 3D ultrasound can be used for the assessment of BEEC patients after functional reconstruction. Biometric pelvic floor parameters may be useful in the long-term follow-up of BEEC patients.


Assuntos
Extrofia Vesical/diagnóstico por imagem , Epispadia/diagnóstico por imagem , Prolapso Uterino/diagnóstico por imagem , Adolescente , Adulto , Biometria/métodos , Extrofia Vesical/cirurgia , Estudos Transversais , Epispadia/cirurgia , Feminino , Humanos , Imageamento Tridimensional/métodos , Diafragma da Pelve/anatomia & histologia , Diafragma da Pelve/diagnóstico por imagem , Diafragma da Pelve/cirurgia , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/cirurgia , Ultrassonografia , Bexiga Urinária/diagnóstico por imagem , Bexiga Urinária/cirurgia , Adulto Jovem
18.
Urologe A ; 47(8): 994-9, 2008 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-18408912

RESUMO

BACKGROUND: Flexible ureteroscopic laser lithotripsy of intrarenal calculi is technically demanding and challenging due to potential dislocation from the calyx and damage to the tissue or the fiber optic during in situ laser lithotripsy. MATERIAL AND METHODS: In 12 consecutive patients ESWL resistant renal stones were collected with the flexible ureteroscope using the nitinol basket and repositioned into the renal pelvis. After removing the flexible ureteroscope from the ureter the stones were treated through an additionally inserted semirigid ureteroscope with frequency-doubled double-pulse Neodym:YAG (FREDDY) laser under direct vision. RESULTS: Operating time was on average 110 min. During the complication-free 3 month follow-up, 8 patients had complete success, 3 partial success, 1 patient had residual fragments>3 mm and 88% of lower pole calyces were stone-free. CONCLUSIONS: As an alternative to percutaneous nephrolithotomy, repositioning of renal stones to the renal pelvis with the flexible instrument allows in selected cases safe laser fragmentation through a semirigid instrument. Access or exposition-related problems can be solved and repair costs of the instruments will be minimized.


Assuntos
Litotripsia a Laser/métodos , Nefrolitíase/terapia , Ureteroscopia/métodos , Criança , Terapia Combinada , Feminino , Humanos , Masculino , Nefrostomia Percutânea , Resultado do Tratamento
19.
J Urol ; 179(4): 1539-43, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18295266

RESUMO

PURPOSE: We sought to identify causative nongenetic and genetic risk factors for the bladder exstrophy-epispadias complex. MATERIALS AND METHODS: A total of 237 families with the bladder exstrophy-epispadias complex were invited to participate in the study, and information was obtained from 214 families, mainly from European countries. RESULTS: Two families showed familial occurrence. Male predominance was found among all subgroups comprising epispadias, classic bladder exstrophy and cloacal exstrophy, with male-to-female ratios of 1.4:1, 2.8:1 and 2.0:1, respectively (p = 0.001). No association with parental age, maternal reproductive history or periconceptional maternal exposure to alcohol, drugs, chemical noxae, radiation or infections was found. However, periconceptional maternal exposure to smoking was significantly more common in patients with cloacal exstrophy than in the combined group of patients with epispadias/classic bladder exstrophy (p = 0.009). Only 16.8% of mothers followed the current recommendations of periconceptional folic acid supplementation, and 17.6% had started supplementation before 10 weeks of gestation. Interestingly, in the latter group mothers of patients with cloacal exstrophy were more compliant with folic acid supplementation than were mothers of the combined group of patients with epispadias/classic bladder exstrophy (p = 0.037). Furthermore, mothers of children with cloacal exstrophy knew significantly more often prenatally that their child would have a congenital malformation than did mothers of children with epispadias/classic bladder exstrophy (p <0.0001). CONCLUSIONS: Our study corroborates the hypothesis that epispadias, classic bladder exstrophy and cloacal exstrophy are causally related, representing a spectrum of the same developmental defect, with a small risk of recurrence within families. Embryonic exposure to maternal smoking appears to enforce the severity, whereas periconceptional folic acid supplementation does not seem to alleviate it. There is a disproportional prenatal ultrasound detection rate between severe and mild phenotypes, possibly due to the neglect of imaging of full bladders with a focus on neural tube defects.


Assuntos
Extrofia Vesical/epidemiologia , Epispadia/epidemiologia , Adulto , Extrofia Vesical/etiologia , Extrofia Vesical/genética , Epispadia/etiologia , Epispadia/genética , Europa (Continente)/epidemiologia , Feminino , Predisposição Genética para Doença , Humanos , Recém-Nascido , Masculino , Fatores de Risco , Síndrome
20.
Nervenarzt ; 79(4): 444-53, 2008 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-18040655

RESUMO

BACKGROUND: Incipient Alzheimer's disease (AD) is frequently suspected by neurologists and psychiatrists, but diagnosis is difficult to establish. The aim of this report was to analyse to what extent suspicion is confirmed by a comprehensive neuropsychological examination intended to distinguish different types of dementia. METHODS: Descriptive data analysis was used for investigating the differential diagnoses of 47 outpatients with suspected AD referred to a department of neuropsychology by physicians in private practice. Data analysis was based upon the NINCDS-ADRDA diagnostic criteria of AD. RESULTS: Only 38% of the outpatients examined with suspected AD met the NINCDS-ADRDA diagnostic criteria for AD or mixed dementia from a neuropsychological point of view, whereas 22% met criteria for other types of dementia. The remaining patients met criteria for distinct differential diagnoses (23%) or lacked pathological findings in neuropsychological functions (17%). CONCLUSIONS: Neuropsychology is an essential part in the differential diagnosis of mild to moderate dementias. It can aid in differential therapeutic considerations concerning the treatment of dementia, for example in selecting appropriate treatments or avoiding expensive but inappropriate ones.


Assuntos
Doença de Alzheimer/diagnóstico , Testes Neuropsicológicos , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/tratamento farmacológico , Doença de Alzheimer/psicologia , Assistência Ambulatorial , Inibidores da Colinesterase/uso terapêutico , Demência/diagnóstico , Demência/psicologia , Demência Vascular/diagnóstico , Demência Vascular/psicologia , Diagnóstico Diferencial , Feminino , Alemanha , Humanos , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Equipe de Assistência ao Paciente , Encaminhamento e Consulta , Resultado do Tratamento
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