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1.
Am J Hum Genet ; 108(2): 337-345, 2021 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-33434492

RESUMO

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is associated with congenital absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait. Disrupted development of the Müllerian ducts (MD)/Wölffian ducts (WD) through multifactorial mechanisms has been proposed to underlie MRKHS. In this study, exome sequencing (ES) was performed on a Chinese discovery cohort (442 affected subjects and 941 female control subjects) and a replication MRKHS cohort (150 affected subjects of mixed ethnicity from North America, South America, and Europe). Phenotypic follow-up of the female reproductive system was performed on an additional cohort of PAX8-associated congenital hypothyroidism (CH) (n = 5, Chinese). By analyzing 19 candidate genes essential for MD/WD development, we identified 12 likely gene-disrupting (LGD) variants in 7 genes: PAX8 (n = 4), BMP4 (n = 2), BMP7 (n = 2), TBX6 (n = 1), HOXA10 (n = 1), EMX2 (n = 1), and WNT9B (n = 1), while LGD variants in these genes were not detected in control samples (p = 1.27E-06). Interestingly, a sex-limited penetrance with paternal inheritance was observed in multiple families. One additional PAX8 LGD variant from the replication cohort and two missense variants from both cohorts were revealed to cause loss-of-function of the protein. From the PAX8-associated CH cohort, we identified one individual presenting a syndromic condition characterized by CH and MRKHS (CH-MRKHS). Our study demonstrates the comprehensive utilization of knowledge from developmental biology toward elucidating genetic perturbations, i.e., rare pathogenic alleles involving the same loci, contributing to human birth defects.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/genética , Anormalidades Congênitas/genética , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/crescimento & desenvolvimento , Mutação , Ductos Mesonéfricos/crescimento & desenvolvimento , Adulto , Proteína Morfogenética Óssea 4/genética , Proteína Morfogenética Óssea 7/genética , Códon sem Sentido , Feminino , Estudos de Associação Genética , Pleiotropia Genética , Proteínas Homeobox A10/genética , Proteínas de Homeodomínio/genética , Humanos , Fator de Transcrição PAX8/genética , Herança Paterna , Penetrância , Proteínas com Domínio T/genética , Fatores de Transcrição/genética , Proteínas Wnt/genética , Ductos Mesonéfricos/anormalidades
2.
Artigo em Inglês | MEDLINE | ID: mdl-33333258

RESUMO

STUDY OBJECTIVE: There are no guidelines specific to women with developmental delay who may not be able to tolerate a Papanicolaou (Pap) test in the office setting. The purpose of this study was to assess the utility of a less invasive method, a blind Pap for women with developmental delay, compared to the traditional Pap test performed in pediatric and adolescent gynecology (PAG) patients. DESIGN: Retrospective cohort pilot study. SETTING: Outpatient PAG clinics and the inpatient PAG service at a single institution. PARTICIPANTS: PAG patients who underwent a traditional Pap test and developmentally delayed PAG patients who underwent a blind Pap test. Patients were 26 years of age or less between July 2007 and March 2019. INTERVENTIONS AND MAIN OUTCOME MEASURES: Charts were reviewed to identify those who underwent a traditional Pap test (with a speculum and direct visualization) versus a blind Pap test (with a vaginal swab without a speculum). Descriptive statistics and Wilcoxon rank and Fisher exact tests compared specimen adequacy, presence of the endocervical/transformation zone (EC/TZ), and cytology results. RESULTS: Of 328 PAG patients identified, 314 patients had a traditional Pap test (control), and 14 patients had a blind Pap test (4.3%). The majority of Pap tests were satisfactory in both groups. The EC/TZ component was present in 279 (90%) specimens within the traditional Pap test group and 8 (57%) in the blind Pap test group (P = .002). The traditional Pap test group results varied, with most (81.9%) being negative for intraepithelial lesion or malignancy. All BP group pathology findings were negative for intraepithelial lesion or malignancy. CONCLUSION: Our study demonstrated an ability to perform a Pap test in a less invasive manner than a traditional Pap test. Although all blind Pap test specimens were adequate, only in 57% was the EC/TZ component reported to be present, compared to 90% of the traditional Pap test specimens.

3.
Artigo em Inglês | MEDLINE | ID: mdl-33189897

RESUMO

STUDY OBJECTIVE: The objective of our study was to determine the rate of intrauterine device (IUD) expulsion and risk factors for expulsion among adolescents and young adults. DESIGN: Retrospective chart review. SETTING: IUD insertions were performed at a single children's hospital. PARTICIPANTS: Eligible adolescent and young adult patients who underwent IUD insertion between August 2009 and March 2019. INTERVENTIONS: IUD insertion. MAIN OUTCOME MEASURES: Primary outcome was the incidence of IUD expulsion in adolescents and young women. Secondary outcomes were risk factors for IUD expulsion including heavy menstrual bleeding, abnormal uterine bleeding (AUB), anemia, or a bleeding disorder diagnosis. RESULTS: Six hundred forty-two eligible patients underwent IUD insertion. The incidence of first IUD expulsion in this population was 58/642 (9.03%). Among those who chose to have a second IUD placed (n = 29), 8/29 (27.6%) had a second expulsion. Patients who expelled their IUD were more likely to have a history of AUB, heavy menstrual bleeding, anemia, or a bleeding disorder. When controlled for body mass index and age at insertion, history of AUB and anemia remained significant risks for IUD expulsion. CONCLUSION: This study similarly showed a higher risk of primary and secondary IUD expulsion in adolescents and young women. A history of AUB, anemia, bleeding disorder, and elevated body mass index are associated with higher risk for IUD expulsion. This population should be counseled that these conditions might place them at higher risk for expulsion.

4.
Artigo em Inglês | MEDLINE | ID: mdl-33242594

RESUMO

STUDY OBJECTIVE: To characterize the prevalence of Müllerian anomalies (MA) among patients with renal anomalies (RA). DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS AND MAIN OUTCOME MEASURES: Retrospective chart review of female patients with RA presenting to an academic pediatric hospital between 2007 and 2019 was performed. Patients were identified using ICD-9 and ICD-10 codes. Data collected included the type of RA, presence and type of MA, method of diagnosis, and associated anomalies. RA subtype analysis was performed. RESULTS: 5590 cases of RA were identified between 2007 and 2019. A random, retrospective chart review was performed resulting in a study population of 363 RA patients. The prevalence of any MA in the overall RA population was 29% (95% CI = 24 - 33%). The prevalence of MA in patients with renal agenesis was 32% compared to 25% with renal dysgenesis. The most common MA were failures of Müllerian duct fusion. Only 21% of patients received screening for a MA at the time of RA diagnosis. 72% of patients without a diagnosed MA were unscreened and either not yet menarchal or had unknown menarchal status. CONCLUSIONS: 29% of RA patients had an underlying MA. No difference was found in the prevalence of MA in patients with renal agenesis versus dysgenesis. Limitations noted are that some patients may be of an age where assessment of the Müllerian structures is suboptimal or who may not have been screened. These results suggest the need for a prospective study to determine evidence-based guidelines for screening for MA among patients diagnosed with any RA to avoid complications from an unrecognized MA.

5.
Clin Obstet Gynecol ; 63(3): 553-560, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32732502

RESUMO

Heavy menstrual bleeding in the adolescent is a cause for concern whether occurring acutely or chronically. There are a number of important considerations during the initial presentation that will help guide the practitioner during workup, which ultimately guides management strategies. The cornerstone of management in the adolescent is that of medical therapy (hormonal and nonhormonal), with avoidance of invasive and irreversible measures, as maintenance of fertility is paramount. Ultimately, the majority of adolescents can be successfully managed in the acute setting and transitioned to maintenance therapy for long-term control of heavy menses. Here, we will review the modern approach to this condition as well as tips and tricks for the practitioner.

6.
J Pediatr Adolesc Gynecol ; 33(6): 658-666, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32781233

RESUMO

STUDY OBJECTIVE: To determine vulvovaginal graft-versus-host disease (vvGVHD) incidence among pediatric patients who have received hematopoietic stem cell transplantation (HSCT) and who already have graft-versus-host disease (GVHD) involving any organ system and characterize patterns of genital examination and referral to pediatric and adolescent gynecology (PAG) in the post-HSCT population. DESIGN: Retrospective chart review. SETTING: Large tertiary children's hospital in Texas. PARTICIPANTS: Eighty-six post-HSCT female patients 21 years old and younger with GVHD involving any organ system. INTERVENTIONS: None. MAIN OUTCOME MEASURES: vvGVHD among post-HSCT children, referrals to PAG, genital examinations documented by any clinician. RESULTS: Eighty-six patients met inclusion criteria. Most HSCTs were bone marrow transplants, typically for leukemia. Median ages of indication diagnosis and HSCT were 5.1 and 7.5 years, respectively. Median time from HSCT to first GVHD diagnosis (eg, skin, intestine) was 96 days. Nearly all patients had at least 1 genital exam documented in the first 2 years post-HSCT, with a median of 17 exams. Twenty-eight patients were seen by PAG post-HSCT, with 7 of these patients seen within the first 2 years post-HSCT. Four symptomatic patients were diagnosed with vvGVHD. Median time from HSCT to vvGVHD was 398 days. CONCLUSION: The small number of vvGVHD cases in our study population is likely because of lack of symptom reporting from patients and families and difficulty with vvGVHD diagnosis. Further training for non-PAG physicians, including pediatricians and oncologists, in identifying and managing vvGVHD might prevent delayed diagnosis and severe sequelae. Earlier referral to PAG or a gynecologist versed in post-HSCT survivorship is also recommended.

7.
J Pediatr Adolesc Gynecol ; 33(6): 649-651, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32712189

RESUMO

STUDY OBJECTIVE: To examine the association between patient characteristics and risk for recurrence risk of paratubal cysts (PTC) in children and adolescents. DESIGN: Retrospective chart review at a single institution. SETTING: Single academic children's hospital. PARTICIPANTS: Pediatric patients presenting to Texas Children's Hospital between July 2007 and March 2019. Patients were identified for the study by reviewing pathology reports and were included if they met inclusion criteria of a pathologic diagnosis of a paratubal or paraovarian cyst removed during any surgical procedure between July 2007 and March 2019. INTERVENTIONS: Subjects with pathologic diagnoses of a paratubal cyst during the study period underwent chart review for the following data points: age at presentation, ethnicity, pathologic recurrence of paratubal cysts, pubertal status, body mass index (BMI), diagnosis of polycystic ovary syndrome (PCOS), size of cyst, laterality of cysts, and number of cysts. MAIN OUTCOME MEASURE(S): Recurrence, Pathology types. RESULTS: Of the 627 patients that met inclusion criteria, the incidence of recurrence was 11.3%. Group 1 included those with recurrence of PTC (N = 70). Group 2 was identified as those without recurrence of PTC (N = 557). There were no differences related to age, BMI, ethnicity, history of PCOS, cyst size, laterality or number of cysts present. PTC NOS and serous PTC occurred most frequently. Of the unique cases involving recurrence, 70.1% recurred on the ipsilateral side. There were no cases of paratubal cyst malignancies in this cohort. The range of pathology diagnoses included pathologies that may occur in ovarian cysts. This is particularly interesting, given the known origins of ovarian cancer from fallopian tube transformations. Rare pathology diagnoses likely did not occur with frequency to determine definitive risks of recurrence in these cases. CONCLUSIONS: There appears to be a baseline recurrence risk for PTC, for which patients can be counseled. Recurrence does not appear to be associated with any particular pathology type, cyst size, number of cysts, BMI, PCOS, or puberty stage. Recurrence, should it occur, appears to occur more commonly on the ipsilateral side.

8.
Blood Adv ; 4(13): 3209-3216, 2020 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-32663297

RESUMO

Low von Willebrand factor (VWF) in adults is associated with significant bleeding, most notably heavy menstrual bleeding (HMB) and postpartum hemorrhage, although this has not been characterized in adolescents. The objectives of this analysis of a multicenter single arm observational cohort study in adolescents with low VWF-associated HMB were to describe the bleeding phenotype, HMB severity, and related complications. Eligibility criteria included postmenarchal females <21 years of age with HMB (Pictorial Blood Assessment Chart [PBAC] score >100) and low VWF (2 values of VWF activity ≥30 and ≤50 IU/dL). Patients diagnosed with other bleeding disorders were ineligible. Clinical phenotype data, including PBAC and Bleeding Assessment Tool (BAT) scores, laboratory data, and HMB management/outcome details, were extracted. Patient demographics and clinical characteristics were summarized as medians with minimum/maximum values or frequencies with percentages. Groups were compared using a Wilcoxon rank-sum test or Fisher's exact test. A total of 113 patients met inclusion criteria, and 2 were excluded. Ninety four percent had a significant bleeding phenotype (BAT score >2), with predominantly mucocutaneous bleeding (32%-44%), postprocedural/surgical bleeding (15%), and severe HMB (BAT HMB domain score ≥2; 90%). Bleeding complications included iron deficiency (60%), anemia (21%), transfusion (12%), and hospitalization (10%). Desmopressin challenge response in subjects tested was good and sustained. Several (48%) required combined therapy for HMB (hormonal/hemostatic), and one third did not show improvement despite therapy. Our results suggest that adolescent females with low VWF have a significant bleeding phenotype and resultant complications warranting a focus on prompt diagnosis, appropriate therapy, and prevention of complications.

9.
J Pediatr Surg ; 55(11): 2397-2402, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32471759

RESUMO

INTRODUCTION: Pediatric patients with complex colorectal and genitourinary conditions often require coordinated multidisciplinary care; however, this coordinated care can be hard to structure and deliver. The purpose of this paper is to review the development and implementation of a multidisciplinary colorectal and pelvic health program, one year after the program's initiation. METHODS: This is an observational retrospective 1-year study (10/1/2017 to 9/30/2018). In fiscal year (FY) 2018, a multidisciplinary colorectal and pelvic health program was initiated. The program development incorporated bimonthly team meetings, educational conferences, and initiation of three clinics: a complex colorectal and genitourinary reconstruction clinic, a bowel management clinic, and a colonic motility clinic. Conditions treated included complex anorectal and cloacal malformations, Hirschsprung disease, and idiopathic constipation. The fiscal year was selected to provide comparative administrative data after program implementation. RESULTS: During the study period, 121 patients underwent comprehensive collaborative evaluation of which 58 (47%) were new to the institution compared to 12 (19%) new patients in the previous year (p < 0.001). In FY 2018, there were 130 procedures performed and 512 collaborative visits with an average of 47 visits per month. This was a 3.4-fold increase in visits compared to FY2017 (171 visits). Of the new patients, 60% (35/58), traveled a median of 181 miles, representing 33 statewide counties, and 4 states compared to a median of 93 miles in the previous fiscal year (p = 0.004). CONCLUSION: The development of a colorectal and pelvic health program is feasible and requires a collaborative approach, necessitating multiple service lines within an institution. Program creation and implementation can result in rapid institutional clinical growth by filling a local and regional need through coordinated multidisciplinary care. LEVEL OF EVIDENCE: IV.

10.
J Pediatr Adolesc Gynecol ; 33(5): 610-612, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32251836

RESUMO

BACKGROUND: Aromatase inhibitors (AIs) are used for estrogen-modulated conditions. Some borderline ovarian tumors (BOT) express estrogen receptors. We present 2 cases of progression from mucinous cystadenoma to mucinous BOT (mBOT) after prior cystectomies in whom an AI was used with recurrence prevention. CASES: Two patients underwent laparoscopic ovarian cystectomy for mucinous cystadenoma. Serial imaging demonstrated recurrent ovarian cysts for which both underwent fertility sparing surgery (FSS) with ovarian cystectomy for mBOT. Both patients were initiated on an AI and have been without recurrence. SUMMARY AND CONCLUSION: BOT predominantly occur in reproductive aged females. FSS with cystectomy is an option, but recurrence occurs in 12-36% of cases. The use of AI in prevention of recurrent BOT shows promise, and more studies are needed to explore this treatment.

11.
Obstet Gynecol ; 135(3): 615-621, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32028485

RESUMO

Abnormal uterine bleeding is a common problem in adolescents. The differential diagnosis varies from pregnancy and infection to anovulation and coagulopathy. Careful history and examination can help elucidate the best next steps for workup and management. Heavy menstrual bleeding is particularly worrisome in this group not only when it occurs at menarche, but also anytime afterward when bleeding lasts longer than 7 days, blood loss is greater than 80 mL per cycle, or other warning signs that indicate a history of heavy bleeding such as anemia. Once conditions of pregnancy, infection, structural abnormalities, and hormonal causes have been ruled out, first-line treatment is medical management with hormonal therapy or nonhormonal options. Invasive measures are a last resort in this patient population, because maintenance of fertility is of critical importance.


Assuntos
Menorragia/terapia , Adolescente , Doença Crônica , Feminino , Humanos , Menorragia/epidemiologia , Menorragia/etiologia
12.
J Pediatr Adolesc Gynecol ; 33(3): 291-295, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31883462

RESUMO

STUDY OBJECTIVE: Ehlers-Danlos syndrome (EDS) is a connective tissue disorder resulting in abnormal collagen synthesis leading to skin, joint, ligament, blood vessel, and organ abnormalities. Studies in adult women show an association with heavy menstrual bleeding, dysmenorrhea, and pelvic organ prolapse. We aimed to evaluate gynecologic complaints in pediatric and adolescent patients with EDS and their management by pediatric and adolescent gynecology (PAG) Providers. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: Charts of female individuals less than 21 years of age with an International Classification of Diseases (ICD) Ninth or Tenth revision diagnosis of EDS who were evaluated between July 1, 2007, and July 31, 2017, were reviewed for menstrual history, gynecologic complaints, and interventions prescribed. RESULTS: A total of 156 patients met inclusion criteria, and 26 (16.7%) were seen by PAG providers. The mean age was 14.5 ± 1.9 years. Fifteen (57.7%) reported dysmenorrhea, 13 (50%) complained of heavy menstrual bleeding (HMB), 10 (38.5%) reported irregular menses, and 7 (26.9%) sought contraception. Concurrent medical problems were reviewed, as this affected hormone choice. The cohort was stratified into 2 groups: patients whose menstrual cycles were well controlled on a single method (group A), and patients who tried multiple medications (group B). Progesterone-only pills were most commonly used in froup A. Eleven (73%) patients in group B tried depot medroxyprogesterone acetate (DMPA), but ultimately a levonorgestrel intrauterine device (IUD) was the most popular final choice of treatment and was used by 4 (27%) patients. CONCLUSION: Few adolescents with EDS are referred to PAG providers despite the prevalence of gynecologic complaints and potential for obstetric and gynecologic complications. In this population, early entry to gynecologic care would be beneficial.


Assuntos
Dismenorreia/terapia , Síndrome de Ehlers-Danlos/terapia , Ginecologia/organização & administração , Menorragia/terapia , Encaminhamento e Consulta/estatística & dados numéricos , Adolescente , Contraceptivos Hormonais/administração & dosagem , Dismenorreia/etiologia , Síndrome de Ehlers-Danlos/complicações , Feminino , Humanos , Levanogestrel/administração & dosagem , Menorragia/etiologia , Gravidez , Estudos Retrospectivos
13.
Radiology ; 292(1): 172-178, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31112089

RESUMO

Background Ovarian and adnexal cysts are frequently encountered at US examinations performed in preadolescent and adolescent patients, yet there are few published studies regarding the outcomes of cysts in this population. Purpose To identify characteristics at US that help to distinguish physiologic ovarian cysts from nonphysiologic entities. Materials and Methods Female patients who underwent pelvic US with or without Doppler from January 2009 through December 2013 were identified by using a centralized imaging database. Patients older than 7 years and younger than 18 years with ovarian or adnexal cysts at least 2.5 cm were included. Demographic characteristics, date of surgery, surgical notes, and pathologic reports were extracted from the electronic medical record. Initial and follow-up dates of US, cyst size and complexity, imaging diagnosis, and change on subsequent US images were recorded. Statistical analysis was performed with the Wilcoxon rank sum and Kruskal-Wallis tests for continuous variables and the Fisher exact test for categorical variables. Results Of 754 patients who met inclusion criteria (age, 8-18 years; mean age, 14.6 years ± 1.9 [standard deviation]; mean cyst size, 5 cm ± 3.3), 409 patients underwent complete follow-up that included resolution at imaging (n = 250) or surgery (n = 159). In the patients with complete imaging follow-up, mean time to US documentation of resolution was 194 days ± 321; 59.6% (149 of 250) patients had nonsimple cyst characteristics. One-hundred fifty-nine patients underwent surgical intervention (mean cyst size, 8.5 cm ± 5.3), and 69.8% (111 of 159) of the cysts had simple characteristics. Of the 159 cysts, 100 (62.8%) were defined in the pathologic report as paratubal cysts. Of 409 patients, no malignancies were encountered in this study population with surgical or imaging resolution. Conclusion No malignancies were encountered in the study population and the majority of cysts resolved at follow-up imaging. Large size, persistence, and separability from the ovary were most helpful for identification of nonphysiologic paratubal cysts. © RSNA, 2019.


Assuntos
Cistos Ovarianos/diagnóstico por imagem , Ultrassonografia/métodos , Anexos Uterinos/diagnóstico por imagem , Anexos Uterinos/patologia , Anexos Uterinos/cirurgia , Doenças dos Anexos/diagnóstico por imagem , Doenças dos Anexos/patologia , Doenças dos Anexos/cirurgia , Adolescente , Criança , Estudos de Coortes , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Cistos Ovarianos/patologia , Cistos Ovarianos/cirurgia , Ovário/diagnóstico por imagem , Ovário/patologia , Ovário/cirurgia , Estudos Retrospectivos
14.
Gynecol Obstet Invest ; 84(2): 145-153, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30269139

RESUMO

BACKGROUND: Determining biomechanical changes in vaginal tissue with tissue stretch is critical for understanding the role of mechanotransduction on vaginal tissue healing. Noncontact dynamic optical coherence elastography (OCE) can quantify biomechanical changes in vaginal tissues noninvasively. Improved vaginal tissue healing will reduce postoperative complications from vaginal surgery. AIMS: (1) To complete dimensional assessments (DAs) of the vaginal tract. (2) To elucidate biomechanical properties (BMP) of porcine vaginal tissues (PVT). (3) Compare BMPs of piglet and adult PVTs after placement of customized vaginal dilators (VD) by OCE and uniaxial mechanical testing (MT). METHODS: Pilot study using adult nulliparous pig and piglet PVTs (n = 20 each). DA of PVTs was performed using silicone molding. 3D-printed VDs were used to achieve different Relative Diameter Change (RDC) of the PVTs (no dilatation, and -50%, 0%, 50% RDC). Elastographic testing using OCE and MT. RESULTS: Using OCE, no significant differences (SD) were noted between adult and piglet PVT (p = 0.74) or by stretch direction (p = 0.300). SD was noted with increasing RDC (p = 0.023). Using MT, there were SD in tissue stiffness between adult and piglet PVT (p = 0.048), but no SD as a function of RDC (p = 0.750) or stretch direction (p = 0.592). CONCLUSIONS: This study quantified biomechanical changes in PVT with customized stretching by 3D printed VD using both OCE and MT. This work has implications for the mechanotransduction of vaginal wound healing and noninvasive assessment of vaginal diseases.


Assuntos
Impressão Tridimensional , Vagina/fisiopatologia , Doenças Vaginais/fisiopatologia , Cicatrização/fisiologia , Animais , Fenômenos Biomecânicos , Cicatriz/fisiopatologia , Técnicas de Imagem por Elasticidade/métodos , Feminino , Mecanotransdução Celular , Projetos Piloto , Sus scrofa , Tomografia de Coerência Óptica , Vagina/patologia , Doenças Vaginais/patologia
15.
J Pediatr Adolesc Gynecol ; 32(1): 64-69, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30012428

RESUMO

STUDY OBJECTIVE: Adnexal torsion (AT) requires urgent surgical intervention to preserve ovarian function. Historically, treatment for AT was oophorectomy because of concerns related to leaving a nonviable ischemic ovary. No published studies support these theoretical concerns and current literature supports conservative management. The aim of this study was to review the institutional outcomes for AT cases, including salvage rates and complications. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: This study was approved by the institutional review board at Baylor College of Medicine. A retrospective chart review on cases of AT from 2007 to 2016 at a single Children's hospital was performed on the basis of International Classification of Diseases, 10th revision and Current Procedural Terminology codes. A standardized chart review form was used in data extraction. Statistical analysis was performed using SAS version 9.4 (SAS Institute). RESULTS: Chart review identified 245 torsion cases in 237 patients. The mean age was 12.4 ± 3.29 years. Of the participants, 230 (94%) underwent minimally invasive laparoscopy with ovarian preservation in 233 (95%) of the cases. There were no complications due to detorsion of the affected adnexa. Intraoperatively, the right adnexa was affected in 134 (55%) cases and a lesion was noted in 193 (79%) cases, most commonly paratubal cysts and mature teratomas. The malignancy rate was low, noted only in 4/245 patients at (1.2%). Pediatric gynecology performed most of the cases (n = 214; 87%). CONCLUSION: The findings of our study continue to support the conservative management of patients with AT.


Assuntos
Anexos Uterinos/cirurgia , Doenças dos Anexos/cirurgia , Anormalidade Torcional/cirurgia , Anexos Uterinos/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Laparoscopia/efeitos adversos , Laparoscopia/estatística & dados numéricos , Laparotomia/efeitos adversos , Laparotomia/estatística & dados numéricos , Ovariectomia/estatística & dados numéricos , Complicações Pós-Operatórias/epidemiologia , Recidiva , Estudos Retrospectivos , Salpingectomia/efeitos adversos , Salpingectomia/estatística & dados numéricos , Terapia de Salvação/efeitos adversos , Terapia de Salvação/métodos , Terapia de Salvação/estatística & dados numéricos , Adulto Jovem
16.
J Pediatr Surg ; 53(3): 493-498, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28196661

RESUMO

BACKGROUND: There is a need for pediatric medical devices that accommodate the unique physiology and anatomy of pediatric patients that is increasingly receiving more attention. However, there is limited literature on the programs within children's hospitals and academia that can support pediatric device development. We describe our experience with pediatric device design utilizing collaborations between a children's hospital and two engineering schools. METHODS: Utilizing the academic year as a timeline, unmet pediatric device needs were identified by surgical faculty and matched with an engineering mentor and a team of students within the Capstone Engineering Design programs at two universities. The final prototypes were showcased at the end of the academic year and if appropriate, provisional patent applications were filed. RESULTS: All twelve teams successfully developed device prototypes, and five teams obtained provisional patents. The prototypes that obtained provisional patents included a non-operative ureteral stent removal system, an evacuation device for small kidney stone fragments, a mechanical leech, an anchoring system of the chorio-amniotic membranes during fetal surgery, and a fetal oxygenation monitor during fetoscopic procedures. CONCLUSIONS: Capstone Engineering Design programs in partnership with surgical faculty at children's hospitals can play an effective role in the prototype development of novel pediatric medical devices. LEVELS OF EVIDENCE: N/A - No clinical subjects or human testing was performed.


Assuntos
Engenharia , Desenho de Equipamento/métodos , Pediatria/instrumentação , Especialidades Cirúrgicas/instrumentação , Criança , Docentes de Medicina , Hospitais Pediátricos , Humanos , Tutoria , Desenvolvimento de Programas , Cirurgiões , Estados Unidos
17.
J Pediatr Adolesc Gynecol ; 31(1): 48-54, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28899828

RESUMO

STUDY OBJECTIVE: To determine the diagnosis, management, and outcome for children and adolescents with borderline ovarian tumor (BOT), and to provide a review of the literature on BOT in children and adolescents. DESIGN: A retrospective cohort study of female adolescents younger than age 21 years diagnosed with BOT between January 2001 and May 2016. SETTING: Texas Children's Hospital, Houston, Texas. PARTICIPANTS: Fourteen patients (ages 12 to 18 years) diagnosed with BOT. MAIN OUTCOME MEASURES: Clinical presentation, preoperative characteristics, surgical technique, cancer stage, histology, treatment, and recurrence. RESULTS: Median age at diagnosis was 15.5 years, with most postmenarchal. Abdominal mass/pain were the most common presenting symptoms. Median tumor size was 16.6 cm (range, 4-32 cm). Preoperative cancer antigen 125 (CA 125) was elevated in 54% (7/13) of cases. All patients had fertility-preserving surgery, either cystectomy (CY) or unilateral salpingo-oophorectomy (USO): 5 via laparoscopy (LSC) and 9 via laparotomy. Most were stage I with 5 serous and 9 mucinous BOT histology. No one received adjuvant chemotherapy. Two patients had recurrence. One had ipsilateral recurrence 2 months after LSC CY for FIGO stage IC1 mucinous BOT. The second had contralateral recurrence 15 months after laparotomy, right USO for FIGO stage IIIC serous BOT treated with LSC CY, then a second recurrence treated with USO after oocyte cryopreservation for fertility preservation. All patients were alive at last follow-up, 1 with disease. CONCLUSIONS: BOT in children and adolescents can be treated conservatively with fertility-preserving techniques and surveillance with good outcome. The role of adjuvant therapy is not known.


Assuntos
Preservação da Fertilidade/métodos , Neoplasias Ovarianas/patologia , Adolescente , Criança , Estudos de Coortes , Terapia Combinada , Feminino , Humanos , Laparoscopia/métodos , Laparotomia/métodos , Recidiva Local de Neoplasia/cirurgia , Estadiamento de Neoplasias , Neoplasias Ovarianas/cirurgia , Estudos Retrospectivos , Texas
18.
J Pediatr Adolesc Gynecol ; 31(3): 242-246, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29274443

RESUMO

STUDY OBJECTIVE: The prevalence, clinical features, and management of gynecologic bleeding complications and health care provider awareness of these in postmenarchal adolescents receiving antithrombotic medications has rarely been addressed in the literature. We sought to address these issues in a review of our experience in a pediatric tertiary care center. DESIGN, SETTING, AND PARTICIPANTS: A retrospective chart review was conducted with institutional review board approval from 2004 to 2014, on eligible postmenarchal adolescents receiving antithrombotic medications. Descriptive statistics were used. RESULTS: Sixty-eight adolescents received antithrombotic medications (thromboembolism in 67 of 68; 99%; cardiac causes in 4 of 68; 6%), which included enoxaparin, warfarin, unfractionated heparin, alteplase, fondaparinux, and aspirin. Heavy menstrual bleeding (HMB) screening questions were documented by treating hematologists in 52 of 68 patients (76%; 95% confidence interval, 65%-86%). Adolescent gynecology consult was requested for 25 of 68 patients (37%). After antithrombotic medications were started, 13 of 68 (19%) developed HMB. Anemia was found in 43% of patients tested (18 of 42); 50% (9 of 18) and 78% patients (14 of 18) received packed red blood cell transfusion and iron therapy, respectively. Five patients (5 of 68; 7%) developed hemorrhagic ovarian cysts, 40% (2 of 5) were treated with surgery, 16% (1 of 5) received transfusions, and 100% (5 of 5) received or continued progesterone-only therapy with no recurrence. CONCLUSION: Adolescents receiving antithrombotic medications are at risk of developing gynecologic bleeding complications, which can result in anemia, hospitalization, transfusions, or surgery. Provider awareness/screening of HMB as a bleeding complication of antithrombotic medications is less than optimal. Future prospective studies in adolescents receiving antithrombotic medications are needed to better evaluate provider awareness and the prevalence of gynecologic bleeding complications, which can lead to effective management.


Assuntos
Fibrinolíticos/efeitos adversos , Menorragia/induzido quimicamente , Adolescente , Anemia/epidemiologia , Anemia/etiologia , Transfusão de Sangue/estatística & dados numéricos , Criança , Feminino , Humanos , Menarca , Menorragia/complicações , Menorragia/epidemiologia , Estudos Retrospectivos , Adulto Jovem
19.
Curr Opin Obstet Gynecol ; 29(5): 328-336, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28858896

RESUMO

PURPOSE OF REVIEW: Heavy menstrual bleeding (HMB) is a common condition in women of reproductive age; however, adolescents with this issue present unique challenges in both diagnosis and management. Much of the research into this topic focuses on the adult population, with variable applicability to adolescents. There are currently no standard guidelines for the work up and treatment of adolescents with HMB. RECENT FINDINGS: Current research into this topic has explored the utilization of standardized protocols in the evaluation of HMB in adolescents, the efficacy of various hormonal, nonhormonal, and surgical treatment modalities, and the benefits of a multidisciplinary approach. Recent literature has focused on adolescents found to have an underlying bleeding disorder, recommending more comprehensive bleeding disorder work up to identify these patients in a timely manner and initiate effective treatment plans. SUMMARY: Providers in the primary care setting should be aware of the definitions for normal menses, and be able to recognize abnormal bleeding and HMB. Early recognition of HMB in adolescents can then lead to appropriate diagnosis of underlying disorders, and current research has proposed standard protocols to assist with the evaluation, ultimately leading to effective long-term management into adulthood.VIDEO ABSTRACT.


Assuntos
Menorragia/diagnóstico , Menorragia/tratamento farmacológico , Adolescente , Anti-Inflamatórios não Esteroides/uso terapêutico , Anticoncepcionais Orais Combinados/uso terapêutico , Diagnóstico Diferencial , Estrogênios/uso terapêutico , Feminino , Humanos , Menorragia/etiologia , Menorragia/cirurgia , Progesterona/uso terapêutico
20.
J Pediatr Adolesc Gynecol ; 30(5): 571-577, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28456695

RESUMO

STUDY OBJECTIVE: Paratubal cysts (PTCs) occur in 7%-10% of women, regardless of age. Although common, PTCs often are found incidentally because of the potential for these cysts to be asymptomatic. The specific aims of the study were to determine if PTC number and size correlated with signs of hyperandrogenism and obesity, as well as to investigate the molecular profiles of these PTCs in samples derived from female adolescents. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: A prospective cohort study was performed in a single children's hospital. Girls 18 years of age or younger who underwent surgery for PTC suspected on the basis of the presence of a persistent adnexal cyst on imaging or a concern for adnexal torsion involving a cyst were consented to participate in the study. RESULTS: Nineteen patients met enrollment criteria with a mean age at menarche of 11.2 ± 1.3 years. Most of the patients (84%; n = 16/19) had adnexal torsion at the time of diagnosis of PTC. Irregular menses and hirsutism was found in 52.6% (n = 10/19) of the patients, among whom 36.8% (n = 7/19) were obese. The mean PTC size was 10.4 ± 4.3 cm with 57.9% (n = 11/19) of the cohort having more than 1 PTC. When patients were compared on the basis of their body mass index, the size of PTCs was significantly larger in the overweight/obese group. The wingless-type (WNT) signaling members catenin beta 1 (CTNBB1) and wingless-type MMTV integration site family, member 7A (WNT7A) were upregulated in 86% (n = 12/14) and 79% (n = 11/14) of the patients, respectively. WNT7A was significantly upregulated in girls with 1 cyst and low body mass index. CONCLUSION: A correlation exists between obesity, cyst size, and hyperandrogenism. Activation of the WNT/CTNBB1 pathway via WNT7A might play a role in PTC development.


Assuntos
Hiperandrogenismo/complicações , Obesidade/complicações , Cisto Parovariano/complicações , Proteínas Wnt/metabolismo , Adolescente , Adulto , Criança , Estudos de Coortes , Feminino , Hirsutismo , Hospitais Pediátricos , Humanos , Menarca , Cisto Parovariano/metabolismo , Cisto Parovariano/cirurgia , Estudos Prospectivos , Via de Sinalização Wnt
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