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1.
Front Genet ; 12: 612100, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34970295

RESUMO

Many parents with a disabled child caused by a genetic condition appreciate the option of prenatal genetic diagnosis to understand the chance of recurrence in a future pregnancy. Genome-wide tests, such as chromosomal microarray analysis and whole-exome sequencing, have been increasingly used for prenatal diagnosis, but prenatal counseling can be challenging due to the complexity of genomic data. This situation is further complicated by incidental findings of additional genetic variations in subsequent pregnancies. Here, we report the prenatal identification of a baby with a MECP2 missense variant and 15q11.2 microduplication in a family that has had a child with developmental and epileptic encephalopathy caused by a de novo KCNQ2 variant. An extended segregation analysis including extended relatives, in addition to the parents, was carried out to provide further information for genetic counseling. This case illustrates the challenges of prenatal counseling and highlights the need to understand the clinical and ethical implications of genome-wide tests.

2.
Int Urogynecol J ; 2021 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-34487193

RESUMO

INTRODUCTION AND HYPOTHESIS: Our primary objective was to study objective and subjective outcomes of patients with urodynamic stress incontinence (USI) following Solyx™ at 3-year follow-up. Our secondary objective was to evaluate ultrasonographic tape and bladder neck position and mobility. METHODS: Records of 88 women who received Solyx™ surgery between September 2015 and December 2017 were reviewed. Ultrasonographic sling evaluation was performed at 6 months and 3 years postoperatively. Primary outcomes were objective and subjective cure of stress incontinence, defined as no involuntary urine leakage during filling cystometry, 1-h pad test < 2 g and negative response to Urogenital Distress Inventory-6 Question 3. RESULTS: Subjective and objective cure rates at 3 years were 85.2% and 87.5%, respectively, with no complications reported. QOL improvements were maintained. Bladder neck position and mobility had no significant change between 6-month and 3-year follow-up. Tape position demonstrated significant shifts in the y-axis at both rest and Valsalva and in the x-axis at Valsalva between 6 months and 3 years; overall mobility was unchanged. Percentile of sling location remained unchanged at 60.1%, as did percentage of urethral kinking (67.9%) achieved. Risk factors for failure were bladder neck hypomobility postoperatively and no urethral kinking postoperatively. CONCLUSIONS: There was good sustained objective and subjective cure with improved QOL in women who underwent Solyx™ for USI at 3-year follow-up. Ultrasonographic evaluation showed a tape position shift upwards and backwards with unchanged tape and bladder neck mobility. Percentile of sling location and rates of dynamic kinking were maintained.

3.
Int Urogynecol J ; 32(10): 2737-2745, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34292341

RESUMO

INTRODUCTION AND HYPOTHESIS: The objective was to identify incidence and risk factors of de novo urgency and detrusor overactivity (DO) following mid-urethral slings (MUS) in patients with urodynamic stress incontinence (USI) without urgency. METHODS: A total of 688 women between January 2004 and July 2017 were reviewed retrospectively. De novo urgency was established with a positive response to question 2 on the Urogenital Distress Inventory-6 questionnaire (UDI-6). Objective cure of USI is no involuntary urine leakage during filling cystometry and pad test < 2 g. Subjective cure of stress urinary incontinence (SUI) is defined as a negative response to question 3 on UDI-6. Multivariate logistic regression was used to identify risk factors for failure. RESULTS: Forty-four out of 688 women (6.4%) developed de novo urgency, with 16 out of 688 (2.3%) demonstrating de novo DO. Subjective cure for women with de novo urgency was significantly lower at 35 out of 44 (79.5%) compared with 556 out of 644 (86.3%) in those with no urgency (p < 0.001). Objective cure for women with de novo DO was significantly lower at 8 out of 16 (50%) compared with 599 out of 672 (89.1%) in those with detrusor stability (p < 0.001). Quality of life improved for all. Age ≥ 66 (OR, 1.23; 1.07), increased bladder sensation (OR, 4.18; 3.80), lower bladder capacity (OR, 5.28; 4.97), lower maximum urethral closure pressure (OR, 2.32; 5.20), and pad test > 100 g (OR, 1.08; 1.15) were independent risk factors for de novo urgency and DO. Diabetes (OR, 1.32) was an independent predictor of de novo urgency. CONCLUSION: Cure is significantly reduced in women who report symptoms of de novo urgency or demonstrate DO after MUS at 1 year. Independent risk factors include age ≥ 66, increased bladder sensation, lower bladder capacity, lower maximum urethral closure pressure, greater pad loss, and diabetes.


Assuntos
Slings Suburetrais , Incontinência Urinária por Estresse , Feminino , Humanos , Qualidade de Vida , Estudos Retrospectivos , Slings Suburetrais/efeitos adversos , Incontinência Urinária por Estresse/cirurgia , Urodinâmica
4.
Int Urogynecol J ; 2021 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-34037814

RESUMO

INTRODUCTION AND HYPOTHESIS: To analyze the immunochemical and urodynamic outcomes after partial versus complete excision of transvaginal polypropylene mesh (PPM) from pelvic walls of rats. METHODS: Forty-eight female Sprague-Dawley (SD) rats were randomly distributed into seven groups: control, mesh total removal 60 days (M-T 60D), mesh total removal 180 days (M-T 180D), mesh partial removal 60 days (M-H 60D), mesh partial removal 180 days (M-H 180D), sham 60 days (Sham 60D), and sham 180 days (Sham 180D). In the mesh groups, PPM was inserted and partially (0.3 × 0.3 cm) or completely removed 30 days later. In the Sham group, the space between the vagina and bladder was dissected without placing or removing the synthetic mesh at day 1 and day 30 later. Urodynamic studies, immunochemical analysis, and Western blot were done at days 60 and 180. RESULTS: The M-T 60D voiding pressure was significantly decreased compared to the Sham 60D and M-H 60D. The voiding interval of M-T 60D was significantly shorter than that of M-H 60D. In the M-T 60D and M-T 180D groups, the leak point pressure was significantly less than in their corresponding sham groups. IL-1 and TNF-α were significantly more intense in M-T 60D compared to M-H 60D and Sham 60D. NGF was significantly greater in M-T 60D compared to Sham 60D. There were no significant differences in MMP-2 and CD-31s throughout the group. CONCLUSION: Total mesh excision incites a host inflammatory response and transitory lower urinary tract dysfunction. Despite the good outcomes after total excision, the invasiveness and surgical risk associated with repeated procedures should not be underestimateded.

6.
J Minim Invasive Gynecol ; 28(1): 107-116, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32416263

RESUMO

STUDY OBJECTIVE: To determine the objective and subjective outcomes of pelvic organ prolapse (POP) surgery using a modified Surelift system (Neomedic International, Barcelona, Spain) and to evaluate surgical complications and postoperative impact on quality of life (QOL) and lower urinary tract symptoms. DESIGN: Retrospective cohort study. SETTING: Tertiary-care university hospital. PATIENTS: Patients with symptomatic anterior or apical POP stage III and above. INTERVENTIONS: All patients underwent pelvic reconstructive surgery with a modified Surelift transvaginal mesh kit. MEASUREMENTS AND MAIN RESULTS: Eighty-three women who underwent pelvic reconstructive surgery with a modified Surelift for symptomatic anterior or apical prolapse stage III and above from April 2018 to January 2019 were reviewed retrospectively. All completed a 72-hour voiding diary, urodynamic study, and multiple validated QOL questionnaires at baseline and at between 6 and 12 months postoperatively. Descriptive statistics were used for demographics and perioperative data. Paired-samples t test and the McNemar test were applied for comparison of pre- and postoperative continuous and categoric data, respectively. The primary outcomes were the objective cure of POP, defined as anterior and apical prolapse Pelvic Organ Prolapse Quantification System ≤ stage I, and subjective cure on the basis of negative answers to Pelvic Organ Prolapse Distress Inventory 6. The objective and subjective cure rates at 1 year were 97.6% and 92.8%, respectively. There were significant improvements in QOL scores postoperatively. Although bladder outlet obstruction improved, de novo urodynamic stress incontinence and stress urinary incontinence were increased at 18.9% and 21.6%, respectively, at 1-year follow-up. The mesh extrusion rate was 4.8%. CONCLUSION: A modified Surelift has good objective and subjective cure rates at 1 year postoperatively with 4.8% mesh extrusion rate. There was significant improvement in lower urinary tract symptoms and QOL. De novo urodynamic stress incontinence at 6 months to 12 months was increased, but it was not sufficiently bothersome to warrant surgery.


Assuntos
Prolapso de Órgão Pélvico/cirurgia , Procedimentos Cirúrgicos Reconstrutivos , Slings Suburetrais , Telas Cirúrgicas , Vagina/cirurgia , Idoso , Estudos de Coortes , Desenho de Equipamento , Feminino , Humanos , Pessoa de Meia-Idade , Prolapso de Órgão Pélvico/epidemiologia , Prolapso de Órgão Pélvico/patologia , Prolapso de Órgão Pélvico/fisiopatologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Período Pós-Operatório , Qualidade de Vida , Procedimentos Cirúrgicos Reconstrutivos/efeitos adversos , Procedimentos Cirúrgicos Reconstrutivos/instrumentação , Procedimentos Cirúrgicos Reconstrutivos/métodos , Estudos Retrospectivos , Índice de Gravidade de Doença , Slings Suburetrais/efeitos adversos , Telas Cirúrgicas/efeitos adversos , Inquéritos e Questionários , Taiwan/epidemiologia , Resultado do Tratamento , Incontinência Urinária por Estresse/epidemiologia , Incontinência Urinária por Estresse/patologia , Incontinência Urinária por Estresse/fisiopatologia , Incontinência Urinária por Estresse/cirurgia , Urodinâmica/fisiologia , Vagina/patologia
7.
J Urol ; 204(4): 787-792, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32898974

RESUMO

PURPOSE: We evaluated mid urethral sling outcomes in overweight and obese patients compared to normal weight patients and identified risk factors for failure in this population. MATERIALS AND METHODS: Records of 688 women between January 2004 and July 2017 were retrospectively reviewed. Patients received urodynamic studies, 1-hour pad test, Urogenital Distress Inventory-6 and Incontinence Impact Questionnaire-7, and were divided into normal weight, overweight and obese. Objective cure at 1 year was defined as no involuntary urine leakage during filling cystometry and pad test less than 2 gm. Subjective cure was established by negative response to question 3 on Urogenital Distress Inventory-6. McNemar's test, chi-square test, Mann-Whitney U and Fisher's exact test were used for paired categorical variables. Independent samples t-tests and paired t-test were used for continuous parametric variables. Multivariate logistic regression was used to identify risk factors for failure. RESULTS: Objective and subjective cure in normal, overweight and obese patients was 91.4% and 89.1%, 87.5% and 86%, and 76% and 70.1%, respectively. There was no difference in surgical complications. Obese patients had worse quality of life scores preoperatively and postoperatively. Risk factors in obese patients with failed mid urethral sling included 66 years old or older (OR 2.02, 1.56-3.98), menopause (OR 4.21, 1.21-14.22), previous prolapse surgery (OR 4.57, 2.36-8.52), diabetes (OR 2.79, 1.61-5.99) and intrinsic sphincter deficiency (OR 5.06, 3.08-9.64). CONCLUSIONS: Obese women with mid urethral sling had lower objective and subjective cure at 1 year and worse quality of life scores compared to normal and overweight women. Risk factors for failure include age, diabetes, menopause, previous prolapse surgery and intrinsic sphincter deficiency.


Assuntos
Slings Suburetrais , Incontinência Urinária por Estresse/cirurgia , Adulto , Idoso , Autoavaliação Diagnóstica , Técnicas de Diagnóstico Urológico , Feminino , Humanos , Pessoa de Meia-Idade , Obesidade/complicações , Sobrepeso/complicações , Valor Preditivo dos Testes , Período Pré-Operatório , Estudos Retrospectivos , Fatores de Risco , Falha de Tratamento , Incontinência Urinária por Estresse/etiologia , Incontinência Urinária por Estresse/fisiopatologia , Urodinâmica , Procedimentos Cirúrgicos Urológicos/instrumentação , Procedimentos Cirúrgicos Urológicos/métodos
8.
Appl Environ Microbiol ; 86(18)2020 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-32680871

RESUMO

Researchers have long endeavored to accumulate triacylglycerols (TAGs) or their derivatives in easily managed microbes. The attempted production of TAGs in Escherichia coli has revealed barriers to the broad applications of this technology, including low TAG productivity and slow cell growth. We have demonstrated that an acyl-CoA-independent pathway can divert phospholipid flux into TAG formation in E. coli mediated by Chlamydomonas reinhardtii phospholipid:diacylglycerol acyltransferase (CrPDAT) without interfering with membrane functions. We then showed the synergistic effect on TAG accumulation via the acyl-CoA-independent pathway mediated by PDAT and the acyl-CoA-dependent pathway mediated by wax ester synthase/acyl-CoA:diacylglycerol acyltransferase (WS/DGAT). Furthermore, CrPDAT led to synchronous TAG accumulation during cell growth, and this could be enhanced by supplementation of arbutin. We also showed that rationally mutated CrPDAT was capable of decreasing TAG lipase activity without impairing PDAT activity. Finally, ScPDAT from Saccharomyces cerevisiae exhibited similar activities as CrPDAT in E. coli Our results suggest that the improvement in accumulation of TAGs and their derivatives can be achieved by fine-tuning of phospholipid metabolism in E. coli Understanding the roles of PDAT in the conversion of phospholipids into TAGs during the logarithmic growth phase may enable a novel strategy for the production of microbial oils.IMPORTANCE Although phospholipid:diacylglycerol acyltransferase (PDAT) activity is presumed to exist in prokaryotic oleaginous bacteria, the corresponding gene has not been identified yet. In this article, we have demonstrated that an acyl-CoA-independent pathway can divert phospholipid flux into TAG formation in Escherichia coli mediated by exogenous CrPDAT from Chlamydomonas reinhardtii without interfering with membrane functions. In addition, the acyl-CoA-independent pathway and the acyl-CoA-dependent pathway had the synergistic effect on TAG accumulation. Overexpression of CrPDAT led to synchronous TAG accumulation during cell growth. In particular, CrPDAT possessed multiple catalytic activities, and the rational mutation of CrPDAT led to the decrease of TAG lipase activity without impairing acyltransferase activity. The present findings suggested that applying PDAT in E. coli or other prokaryotic microbes may be a promising strategy for accumulation of TAGs and their derivatives.


Assuntos
Acil Coenzima A/metabolismo , Aciltransferases/metabolismo , Escherichia coli/enzimologia , Ácidos Graxos/metabolismo , Fosfolipídeos/metabolismo , Triglicerídeos/metabolismo , Redes e Vias Metabólicas
10.
Sci Rep ; 10(1): 1944, 2020 02 06.
Artigo em Inglês | MEDLINE | ID: mdl-32029796

RESUMO

Patients with pelvic organ prolapse (POP) often have accompanying lower urinary tract symptoms. Symptoms such as stress urinary incontinence(SUI-UD) and detrusor overactivty(DO) would co-exist in a number of patients. Management entails relieving the obstructive element. To determine the clinical outcome of patients with urodynamics mixed type urinary incontinence(MUI-U) after vaginal pelvic reconstructive surgery(PRS), a retrospective study was conducted. MUI-U was defined as having urodynamic findings of both of DO/DOI (derusor overactivity incontinence) and SUI-UD. Main outcome measures: Objective cure- absence of involuntary detrusor contraction on filling cystometry and no demonstrable leakage of urine during increased abdominal pressure; Subjective cure- assessment index score of <1 on UDI-6 question #2 and #3. Of the 82 patients evaluated, 14 underwent vaginal PRS with concomitant mid-urethral sling(MUS) insertion while 68 had vaginal PRS alone. Pre-operatively, 49(60%) patients had stage III and 33(40%) had stage IV prolapse. Post-operatively, 1-year data shows an objective cure of 56% (46/82) and subjective cure of 54% (44/82). MUI-U was significantly improved. Improvement of SUIUD and results of the 1-hour pad test were more pronounced in patients with concomitant MUS insertion. Ergo, vaginal PRS cures symptoms of MUI-U in >50% of patients and concomitant MUS can be offered to SUI predominant MUI.


Assuntos
Prolapso de Órgão Pélvico/fisiopatologia , Prolapso de Órgão Pélvico/cirurgia , Incontinência Urinária por Estresse/fisiopatologia , Incontinência Urinária por Estresse/cirurgia , Urodinâmica/fisiologia , Idoso , Feminino , Humanos , Sintomas do Trato Urinário Inferior/fisiopatologia , Sintomas do Trato Urinário Inferior/cirurgia , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Qualidade de Vida , Estudos Retrospectivos , Slings Suburetrais , Resultado do Tratamento , Procedimentos Cirúrgicos Urológicos/métodos , Vagina/fisiopatologia , Vagina/cirurgia
12.
Taiwan J Obstet Gynecol ; 56(4): 561-563, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28805620

RESUMO

OBJECTIVE: Difficulties often encountered during intubation in extremely low birth-weight (ELBW) neonates requiring resuscitation at birth because of the smaller airway and the pressure from the limited number of attempts before hemodynamic instability occurs. CASE REPORT: We evaluated two pregnant women at 26 weeks of gestation with premature rupture of membranes and evidence of chorioamnionitis and applied the concept of ex utero intrapartum treatment, which involved delaying cord clamping (DCC) after establishing a secured airway with adequate ventilation during cesarean delivery. The resuscitative procedure was smooth and all three neonates had favorable outcomes at one month of age. CONCLUSION: When cesarean delivery is indicated in ELBW infants and intubation after birth is anticipated, DCC after establishing a secured airway may help maintain neonatal cardiovascular stability and allow physicians to resolve the technical difficulties of intubation.


Assuntos
Cesárea/métodos , Parto Obstétrico/métodos , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Intubação Intratraqueal/métodos , Nascimento Prematuro/cirurgia , Adulto , Feminino , Ruptura Prematura de Membranas Fetais/cirurgia , Humanos , Recém-Nascido , Masculino , Parto , Período Periparto , Gravidez , Gravidez de Gêmeos , Nascimento Prematuro/etiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/terapia , Ressuscitação , Cordão Umbilical/cirurgia
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