Urinary continence after high urogenital sinus repair conducted with posterior prone approach: electromyography-uroflowmetric assessment.

PURPOSE: We aimed to present the results of urinary continence assessment objectively with electromyography (EMG)-uroflowmetry after high urogenital sinus (HUGS) repair with posterior prone approach without division of rectum. METHODS: The records of patients who underwent HUGS repair via posterior prone approach between January 2005 and July 2018 were reviewed retrospectively. Incontinence, dysuria, hesitation, and straining during urination were evaluated during the clinical follow-up. Dysfunctional voiding scoring system was used as a questionnaire. Patients were re-evaluated with EMG-uroflowmetry in terms of voiding volume and pattern, voiding time, maximum flow rate, average flow rate, maximum flow time, and post-voiding residual volume. RESULTS: Seven patients with HUGS were treated with a posterior prone approach. The median age of the patients was 18 months (8-21 months). The median UGS length was 4.4 cm (3.6-5.5 cm), urethral length was 1.1 cm (1.0-1.5 cm), and vaginal length was 4.9 cm (4.1-5.1 cm). No urination or defecation problems were described by the patients or their parents. When the results of the dysfunctional voiding scoring systems questionnaire were analyzed, results scored 7 (range 5-8). EMG-uroflowmetric test graphics of the patients showed normal flow curves without plateau, intermittency or irregularity. Pelvic EMG assessment was normal in all patients. CONCLUSION: EMG-uroflowmetry has shown objectively that urinary continence and normal voiding pattern are preserved after HUGS repair with posterior prone approach without division of rectum.

Comparative effectiveness of imaging modalities for preoperative assessment of anorectal malformation in the pediatric population.

OBJECTIVE: The aim of this study was to compare the accuracy of MRI, colostography/fistulography, and X-ray imaging modalities for preoperative diagnosis of anorectal malformations (ARMs) in pediatric patients. METHODS: This retrospective analysis included a total of 84 pediatric patients with ARMs. Preoperative imaging findings were assessed by 2 radiologists and compared to surgical findings. RESULTS: MRI identified anomalies of the spine in 25 of 84 patients (29.8%), anomalies of the genital system in 7 of 84 patients (8.3%), anomalies of the urinary system in 22 of 84 patients (26.2%), and underdeveloped sphincter muscle complex in 34 of 84 patients (40.5%). In the 44 subjects receiving both MRI and X-ray, MRI was more sensitive in detecting anomalies of spine (18/44 vs. 8/44; P = 0.002), and both correctly identified the distal end of the rectum in 77.3% (34/44) of the cases. In the 24 subjects receiving both MRI and colostography/fistulography, MRI was more accurate in identifying Pena's classification (22/24 vs. 15/24; P = 0.039). Distal end of the rectum was correctly identified in 75.0% (18/24) and 58.3% (14/24) of the cases (P = 0.125). CONCLUSIONS: MRI could clearly reveal fistula anatomy and associated anomalies of ARMs and should be routinely used for preoperative evaluation of ARMs. TYPE OF STUDY: Study of diagnostic test. LEVEL OF EVIDENCE: Level II.

Information ranks highest: Expectations of female adolescents with a rare genital malformation towards health care services.

BACKGROUND: Access to highly specialized health care services and support to meet the patient's specific needs is critical for health outcome, especially during age-related transitions within the health care system such as with adolescents entering adult medicine. Being affected by an orphan disease complicates the situation in several important respects. Long distances to dedicated institutions and scarcity of knowledge, even among medical doctors, may present major obstacles for proper access to health care services and health chances. This study is part of the BMBF funded TransCareO project examining in a mixed-method design health care provisional deficits, preferences, and barriers in health care access as perceived by female adolescents affected by the Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), a rare (orphan) genital malformation. METHODS: Prior to a communicative validation workshop, critical elements of MRKHS related care and support (items) were identified in interviews with MRKHS patients. During the subsequent workshop, 87 persons involved in health care and support for MRKHS were asked to rate the items using a 7-point Likert scale (7, strongly agree; 1, strongly disagree) as to 1) the elements' potential importance (i.e., health care expected to be "best practice", or priority) and 2) the presently experienced care. A gap score between the two was computed highlighting fields of action. Items were arranged into ten separate questionnaires representing domains of care and support (e.g., online-portal, patient participation). Within each domain, several items addressed various aspects of "information" and "access". Here, we present the outcome of items' evaluation by patients (attended, NPAT = 35; respondents, NRESP = 19). RESULTS: Highest priority scores occurred for domains "Online-Portal", "Patient participation", and "Tailored informational offers", characterizing them as extremely important for the perception as best practice. Highest gap scores yielded domains "Tailored informational offers", reflecting perceived lack of disease-related information for affected persons, medical experts, and health insurance companies, "Online-Portal" (with limited information available on specialist clinics and specialized doctors), and regarding insufficient support offers (e.g., in school and occupational settings). Conversely, lowest gap scores were found with group offers for MRKHS patients ("Transition programs") and MRKHS self-help days ("Patient participation"), suggesting satisfaction or good solutions in place. DISCUSSION: The importance assigned to disease-related information indicates that informational deficits are perceived by patients as barriers, hindering proper access to health care, especially in an orphan disease. Access to health-related information plays a role for all persons seeking help and care. However, the overwhelmingly high scores attributed to these elements in the context of an orphan disease reveal that here improved information policies are crucial, demanding for institutionalized solutions supported by the health care system. IMPLICATIONS FOR PRACTICE: The disparity between experience of care and attribution as best practice detected describes areas of action in all domains involved, highlighting information related fields. New concepts and structures for health care in orphan diseases could draw upon these patient-oriented results a) regarding orphan-disease specific elements demanding institutionalized reimbursement, b) essential elements for center care and corresponding networks, and c) elements reflecting patients´ participation in the conception of centers for rare diseases.

Transition of care for adolescents with disorders of sex development.

Disorders of sex development (DSDs) continue to present many challenges. A clear consensus among clinicians has emerged in paediatric care; however, the same cannot be said of adult care services. Moreover, transition to adult care is a process that takes many years. Although evidence-based models of transitional care do exist in other medical specialities, few studies have been conducted in adolescents with DSDs, and a clear and pressing need exists for further research to guide the care of these patients. A general move towards independence and self-responsibility is common to all transition programmes, but specific issues for those with a DSD include disclosure, genital examinations and potential vaginal treatments. Psychological support underpins the whole transition process for patients with a DSD and encourages an individual approach to develop. In this Perspectives article, we describe the barriers to successful transition in this setting and outline suggestions to overcome them.

The role of a clinical score in the assessment of ambiguous genitalia.

OBJECTIVE: To improve the initial assessment of ambiguous genitalia in infants. SUBJECTS AND METHODS: Using a specially devised scoring system, the external genitalia (external masculinization score, EMS, range 0-12) and internal reproductive structures (internal masculinization score, IMS, range 0-10) were assessed in 426 male newborns and 291 cases of ambiguous genitalia. RESULTS: In normal male newborns, the median (10th centile) EMS was 11 (10). In the affected infants, the sex of rearing was male in 202 and female in 89 cases, respectively. The median (10-90th centile) EMS in those cases reared male, at 3.5 (2-8), was significantly higher than in cases reared as females, at 2 (1-6) (P < 0.001). The median IMS in cases reared as males and females was the same, at 10, but the scatter of values was higher for males (10-90th centile, 4-10) than for females (0-10) (P = 0.01). Infants reared as females were more likely to have a micropenis, a uterus and/or a urogenital sinus, but there were 12 cases where the sex of rearing was male despite the presence of a uterus; five infants without micropenis were reared as female and 23 with a urogenital sinus were reared as male. CONCLUSION: The masculinization score provides a standardized format to summarize clinical features in newborn infants with ambiguous genitalia. Gender assignment does not solely depend on the appearance of the external genitalia and the nature of internal sexual organs.

Clinical and research applications of real-time ultrasonography in bovine reproduction: a review.

Transrectal real-time ultrasonography has proved to be a rapid and reliable technique for studying reproductive functions in cattle. Through ultrasonography it is now established that follicular growth occurs in wave-like patterns during each estrous cycle. It has been shown that follicular growth and regression continue during early pregnancy, as well as in the postpartum anestrous period. Ultrasound has also helped us to understand the influence of dominant follicles on medium and small follicles. Among the numerous demonstrated applications of ultrasonography, early pregnancy diagnosis, fetal sexing, and postpartum reproductive management appear to be promising areas for immediate application. The new information that has been generated through ultrasound has thrown light on hitherto poorly understood areas of ovarian follicular dynamics, corpus luteum function, pregnancy establishment, and embryonic development in cattle, thereby opening newer areas for research. Still there is great potential for the continued application of this technology to further our understanding of the reproductive processes and to maximize reproductive efficiency of the bovine species. The significant contributions of real-time ultrasonography to the study of bovine reproduction in general and its practical applications in particular are discussed in this paper. The need for taking up technology assessment studies and for the introduction of low-cost portable equipment are stressed. Literature search for this review was done by scanning Current Contents Series 1991-92, AGRICOLA 1980-92, and MEDLINE 1990-92.