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1.
J Minim Invasive Gynecol ; 29(3): 355-364.e2, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34648933

RESUMEN

OBJECTIVE: Minimizing intraoperative blood loss during hysterectomy is crucial to lessen associated perioperative morbidity. The aim of this investigation is to conduct a systematic review and meta-analysis of all randomized controlled trials (RCTs) that compared vasopressin versus normal saline in controlling intraoperative blood loss during hysterectomy. DATA SOURCES: We screened 5 major databases (PubMed, Scopus, Web of Science, Embase, and the Cochrane Central Register of Controlled Trials) from inception till July 18, 2021. We used the following query search in all databases: (vasopressin OR arginine vasopressin OR argipressin OR antidiuretic hormone) AND (hysterectomy) AND (saline OR placebo OR control OR no treatment) AND (randomized OR randomised OR randomly). There was no language restriction during database screening. METHODS OF STUDY SELECTION: We considered all studies that met the following evidence-based criteria: (1) patients: individuals undergoing hysterectomy for any indication, (2) intervention: vasopressin, (3) comparator: normal saline, placebo, or no treatment, (4) outcomes: reliable extraction of any of our endpoints, and (5) study design: RCTs. We assessed risk of bias of included studies and pooled endpoints as mean difference (MD) or risk ratio (RR) with 95% confidence interval (CI). We performed statistical analysis using the Review Manager software, version 5.4.0. TABULATION, INTEGRATION, AND RESULTS: Seven RCTs with an overall low risk of bias met the inclusion criteria. This meta-analysis included a total of 455 patients; 232 and 223 patients were allocated to vasopressin and control group, respectively. The majority of RCTs were vaginal hysterectomy (n = 5), few abdominal hysterectomy, (n = 2) and no laparoscopic hysterectomy. The mean estimated intraoperative blood loss was significantly lower in favor of the vasopressin group compared with the control group (n = 6 RCTs, MD = -119.85 mL, 95% CI [-177.55, -62.14], p <.001). However, there was no significant difference between both groups regarding mean operating time, mean change in postoperative hemoglobin, mean hospital stay, rate of febrile morbidity, rate of pelvic infection, rate of perioperative blood transfusion, and rate of perioperative complications. CONCLUSION: Compared with normal saline, vasopressin significantly reduced the estimated blood loss during hysterectomy but did not change any clinically significant outcomes. In addition, vasopressin was safe and did not correlate with an increase in the rates of febrile morbidity or pelvic infection.


Asunto(s)
Histerectomía Vaginal , Histerectomía , Pérdida de Sangre Quirúrgica/prevención & control , Femenino , Humanos , Histerectomía/efectos adversos , Histerectomía/métodos , Histerectomía Vaginal/efectos adversos , Histerectomía Vaginal/métodos , Ensayos Clínicos Controlados Aleatorios como Asunto , Vasopresinas/uso terapéutico
2.
Eur J Contracept Reprod Health Care ; 27(3): 253-260, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35191798

RESUMEN

OBJECTIVE: Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are two increasing important problems among children. This study aims to explore the link between maternal polycystic ovary syndrome (PCOS) and the risk of ASD and ADHD in the offspring. METHOD: The MOOSE guidelines were followed in the conduct of this meta-analysis. A literature search was done in PubMed/MEDLINE, Scopus, and Web of Science from inception until January 2021. The DerSimonian and Laird random-effects model was used to estimate the combined risk ratios (RR) and 95% confidence intervals (CI). Sensitivity analysis was also used to investigate the effect of each study on the combined results. RESULTS: Seven studies, with 1,358,696 participants, comprising 7,334 ADHD cases and 3,920 ASD cases, were included in this study. Children born to mothers with maternal PCOS had higher risks of developing ASD (RR = 1.46, 95% CI: 1.26-1.69, I2 = 64%) and ADHD (RR = 1.43, 95% CI: 1.35-1.41, I2 = 0%) when compared with children born to mothers without maternal PCOS. CONCLUSION: This study showed that there might be a link between maternal PCOS and the risk of developing ASD and ADHD in the offspring. This important issue must be considered in PCOS women during and after pregnancy.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Síndrome del Ovario Poliquístico , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/etiología , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/etiología , Femenino , Humanos , Madres , Oportunidad Relativa , Síndrome del Ovario Poliquístico/complicaciones , Síndrome del Ovario Poliquístico/epidemiología , Embarazo
3.
J Obstet Gynaecol ; 42(6): 1653-1661, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35611858

RESUMEN

We aimed to conduct a systematic review and meta-analysis to compare the efficacy and safety of titrated oral misoprostol versus static oral misoprostol for labour induction. We searched for the available randomised clinical trials (RCTs) in the Cochrane Library, PubMed, ISI web of science, Scopus, and ClinicalTrials.gov. We included RCTs compared titrated oral misoprostol versus static regimen of oral misoprostol during labour induction. Our main outcomes were vaginal and caesarean delivery rates, uterine tachysystole, misoprostol side effects, and neonatal adverse events. Three RCTs met our inclusion criteria with a total number of 360 patients. The vaginal delivery rate did not significantly differ between both groups (p = 0.49). Titrated oral misoprostol was associated with significant increase in the caesarean delivery rate compared to static oral misoprostol (p = 0.04). Moreover, titrated oral misoprostol led to significant increase in the uterine tachysystole and misoprostol side effects (p = 0.01 & p = 0.003, respectively). There were no differences among both groups regarding different neonatal adverse events. In conclusion, titrated oral misoprostol increases the incidence of caesarean delivery, uterine tachysystole, and misoprostol side effects with a similar vaginal delivery rate compared to static dose misoprostol. Thus, static oral misoprostol should be used instead of titrated oral misoprostol during labour induction. Impact StatementWhat is already known on this subject? Different studies have evaluated titrated oral misoprostol administration for induction of labour and proved their efficacy in comparison with other induction methods. However, there is controversy among the published studies between titrated oral misoprostol and static oral misoprostol during induction of labour. A recent study concluded that hourly titrated misoprostol and static oral misoprostol are equally safe and effective when utilised for induction of labour with no fear of any adverse events. However, another study recommended static oral misoprostol administration for labour induction as it was linked to a lower caesarean section incidence, fewer drug side effects, and decline in complication rates in comparison with titrated oral misoprostol.What the results of this study add? Titrated oral misoprostol increases the incidence of caesarean delivery, uterine tachysystole, and misoprostol side effects with a similar vaginal delivery rate compared to static dose misoprostol.What the implications are of these findings for clinical practice and/or further research? Static oral misoprostol should be used instead of titrated oral misoprostol during labour induction. More future trials are required to confirm our findings.


Asunto(s)
Distocia , Misoprostol , Oxitócicos , Administración Intravaginal , Maduración Cervical , Parto Obstétrico , Distocia/inducido químicamente , Femenino , Humanos , Recién Nacido , Trabajo de Parto Inducido/métodos , Oxitócicos/efectos adversos , Embarazo
4.
Lasers Surg Med ; 51(9): 757-759, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31215051

RESUMEN

BACKGROUND AND OBJECTIVES: Laser vaginal tightening (LVT) outpatient procedures have become increasingly popular for cosmetic reasons, for enhancement of sexual functioning and to treat vaginal laxity, mild pelvic organ prolapsed (POP), and urinary incontinence, although scientific short- and long-term evidence is lacking. STUDY DESIGN/MATERIALS AND METHODS: Report of three patients with vaginal laxity who previously underwent LVT procedures. RESULTS: Three premenopausal women who previously underwent LVT for vaginal laxity but had no improvement. On subsequent posterior vaginal repair procedures, their vaginal mucosa was found to be scarred or friable, making surgery and dissection more difficult. CONCLUSIONS: LVT procedures lack scientific evidence of safety and efficacy regarding management of mild POP and vaginal laxity, and healthcare providers should counsel and educate their patients of the potential risks, some of which is still unreported. Lasers Surg. Med. © 2019 The Authors. Lasers in Surgery and Medicine Published by Wiley Periodicals, Inc.


Asunto(s)
Terapia por Láser , Vagina/cirugía , Adulto , Modificación del Cuerpo no Terapéutica , Femenino , Procedimientos Quirúrgicos Ginecológicos/métodos , Humanos , Persona de Mediana Edad
5.
Turk J Obstet Gynecol ; 20(4): 293-313, 2023 Dec 08.
Artículo en Inglés | MEDLINE | ID: mdl-38073223

RESUMEN

Assisted reproductive technologies (ART) have become a vital option for women facing fertility challenges. One of the potential interventions being explored is the use of sildenafil citrate (SC) to improve clinical outcomes in ART procedures. The aim of this study was to assess the impact of SC on clinical outcomes in women undergoing ART. A comprehensive literature search was conducted using multiple databases, including PubMed, Scopus, Embase, Web of Science, and the Cochrane Central Register of Controlled Trials. The search covered studies from inception until April 15, 2023, and identified relevant randomized controlled trials (RCTs) for inclusion in the analysis. The endpoints were summarized as risk ratio (RR) or standardized mean difference (SMD) with 95% confidence interval (CI). After meticulous analysis, twenty-eight RCTs comprising 3,426 women were included in the study. The results revealed significant findings regarding the impact of SC on clinical pregnancy (CP) rates. Women receiving SC demonstrated a significantly higher probability of CP compared to the control group (n=21 RCTs, RR=1.43; 95% CI: 1.29, 1.59). Additionally, when SC was combined with other medications like clomiphene citrate (CC) or estradiol valerate, it further improved the likelihood of CP compared to these medications alone (RR=1.35, 95% CI: 1.19, 1.53; RR=1.55, 95% CI: 1.08, 2.22, respectively). Furthermore, the study observed that the mean endometrial thickness (ET) was significantly higher in women who received SC compared to the control group, which involved other active interventions or placebo (SMD=0.77, 95% CI: 0.20, 1.34). Particularly, the administration of SC resulted in a notably higher ET level compared to the placebo (SMD: 1.33, 95% CI: 0.15, 2.51). The findings suggest that luteal supplementation of SC can be considered a beneficial approach to enhance ET and improve the CP rate in women undergoing ART.

6.
Reprod Sci ; 30(5): 1399-1407, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36121616

RESUMEN

The objective of this study was to evaluate the impact of endometrial scratch on the pregnancy rate among women with previous failed intrauterine insemination (IUI). A systematic search was done in PubMed, Cochrane Library, Scopus, and ISI web of science from inception to November 2021. We selected randomized clinical trials (RCTs) that compared endometrial scratch in the intervention group versus placebo or no intervention in the control group among infertile women with previous failure of IUI regarding different pregnancy outcomes. Revman software was utilized for performing our meta-analysis. Our main outcomes were biochemical pregnancy, clinical pregnancy, and live birth rates. Five RCTs met our inclusion criteria with a total number of 989 patients. We found endometrial scratch significantly improved the biochemical and clinical pregnancy rates in comparison with the control group among women with previous IUI failure (p < 0.001). Moreover, the live birth rate was significantly increased among the endometrial scratch group (RR = 2.00, 95% CI [1.20, 3.34], p = 0.008). In conclusion, endometrial scratch is effective in improving pregnancy outcomes among women with previous IUI failure. More trials are required to confirm our findings.


Asunto(s)
Endometrio , Fertilización In Vitro , Embarazo , Femenino , Humanos , Índice de Embarazo , Ensayos Clínicos Controlados Aleatorios como Asunto , Nacimiento Vivo , Inseminación , Inseminación Artificial , Inducción de la Ovulación
7.
J Gynecol Obstet Hum Reprod ; 51(1): 102235, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34583026

RESUMEN

AIM: To conduct a systematic review and meta-analysis of all randomized controlled trials (RCTs) that examined the maternal and neonatal outcomes of misoprostol+isosorbide mononitrate (ISMN) versus misoprostol alone (control) in promoting cervical ripening during labor induction. METHODS: We searched five databases from inception until 05-May-2021. We assessed risk of bias of RCTs, meta-analyzed 23 endpoints, and pooled them as mean difference or risk ratio with 95% confidence interval. RESULTS: Overall, five RCTs met the inclusion criteria, comprising 850 patients (426 and 424 patients were allocated to misoprostol+ISMN and misoprostol group, respectively). Overall, the RCTs had a low risk of bias. Pertaining to maternal delivery-related outcomes, there was no significant difference between both groups regarding the mean interval from drug administration to delivery, rate of vaginal delivery, rate of cesarean section delivery, and rate of need for oxytocin augmentation. Pertaining to maternal drug-related side effects, the rate of maternal headache was significantly higher in disfavor of the misoprostol+ISMN compared with misoprostol alone. However, the rates of maternal nausea, hypotension, flushing, palpitation, dizziness, postpartum hemorrhage, and uterine tachysystole did not differ between both groups. Pertaining to neonatal outcomes, there was no significant difference between both groups regarding rates of NICU admission, meconium-stained amniotic fluid, and Apgar score <7 at five minutes. CONCLUSION: Compared with misoprostol alone, co-administration of misoprostol+ISMN did not correlate with superior maternal delivery-related outcomes. The rate of maternal headache was significantly higher in disfavor of the misoprostol+ISMN group. There was no significant difference between both groups regarding neonatal endpoints.


Asunto(s)
Maduración Cervical/efectos de los fármacos , Isosorbida/farmacología , Misoprostol/farmacología , Adulto , Maduración Cervical/fisiología , Femenino , Humanos , Isosorbida/uso terapéutico , Trabajo de Parto Inducido/instrumentación , Trabajo de Parto Inducido/métodos , Misoprostol/uso terapéutico , Embarazo , Ensayos Clínicos Controlados Aleatorios como Asunto/estadística & datos numéricos
8.
J Gynecol Obstet Hum Reprod ; 51(3): 102305, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34974147

RESUMEN

OBJECTIVE: To evaluate the efficacy and safety of preoperative duloxetine on postoperative pain management after gynecologic laparoscopic surgeries. METHODS: A systematic search was done in Cochrane Library, PubMed, ISI web of science, and Scopus from inception to September 2021. We selected randomized clinical trials (RCTs) that compared preoperative duloxetine (intervention group) versus placebo (control group) among women undergoing gynecologic laparoscopic surgeries. Our primary outcomes were pain scores evaluated by the Visual Analog Scale (VAS) at 2, 6, 12, and 24 h postoperatively. Our secondary outcomes were the time required for the first analgesic request in minutes, postoperative analgesic consumption in milligrams, length of hospital stay in days, and side effects. RESULTS: Four RCTs with a total number of 244 patients were included in our systematic review and meta-analysis. We found duloxetine was linked to a significant reduction in VAS pain scores at different time intervals. The first analgesic request was significantly earlier in the placebo group than in the duloxetine group (p = 0.03). In addition, duloxetine significantly reduced the postoperative analgesic consumption compared to placebo (MD= -41.97, 95% CI [-53.23, -30.72], p<0.001). However, both groups did not differ in the length of hospital stay and side effects. CONCLUSIONS: Duloxetine administration prior to gynecological laparoscopic surgeries is safe and effective in improving postoperative pain and analgesia.


Asunto(s)
Laparoscopía , Dolor Postoperatorio , Clorhidrato de Duloxetina/uso terapéutico , Femenino , Procedimientos Quirúrgicos Ginecológicos/efectos adversos , Humanos , Laparoscopía/efectos adversos , Dolor Postoperatorio/tratamiento farmacológico , Dolor Postoperatorio/etiología , Ensayos Clínicos Controlados Aleatorios como Asunto
9.
Sex Reprod Healthc ; 32: 100720, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35381438

RESUMEN

OBJECTIVE: To evaluate the impact of virtual reality on pain management during normal labor. METHODS: A systematic search was performed in September 2021 through PubMed, Cochrane Library, Scopus, and ISI web of science. We selected randomized clinical trials (RCTs) that compared virtual reality in the intervention group versus placebo or no intervention in the control group among laboring women during their normal delivery. Revman software was used for performing our meta-analysis. Our primary outcome was the pain score evaluated during the labor process by the Visual Analog Scale (VAS). Our secondary outcomes were anxiety and satisfaction scores during childbirth in addition to the duration of the first and second stages of labor. RESULTS: Eight RCTs met our inclusion criteria with a total number of 466 patients. We found virtual reality was linked to a significant reduction in the VAS pain score during labor compared to the control group (MD = -1.40, 95% CI [-1.83, -0.96], p < 0.001). The anxiety score during labor was significantly reduced among the virtual reality group (SMD = -1.15, 95% CI [-2.18, -0.12], p = 0.03). Moreover, virtual reality significantly improved the satisfaction score during labor (MD = 15.58, 95% CI [4.93, 26.22], p = 0.004). However, there were no significant differences between virtual reality and control groups regarding the duration of the first and second stages of labor. CONCLUSIONS: Virtual reality is an effective technique for reducing anxiety, increasing satisfaction, and improving pain management during normal labor.


Asunto(s)
Dolor de Parto , Realidad Virtual , Femenino , Humanos , Dolor de Parto/terapia , Dolor , Manejo del Dolor/métodos , Dimensión del Dolor/métodos , Embarazo , Ensayos Clínicos Controlados Aleatorios como Asunto
10.
Clin Case Rep ; 9(1): 229-235, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33489165

RESUMEN

Central hypothyroidism might be another clinical sign of SSADH deficiency which prompts urinary organic acid screening for GHB in central hypothyroidism patients. Studies on GABA and thyroid hormone interaction might be a concept of a new therapy.

11.
Eur J Obstet Gynecol Reprod Biol ; 263: 223-230, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34242930

RESUMEN

OBJECTIVE: There is a great controversy regarding the benefits of ultrasound-guided intrauterine insemination (IUI) in improving pregnancy rates. Thus, we aimed to compare ultrasound-guided IUI versus classical IUI regarding the pregnancy rates improvement. METHODS: A systematic search was done in Cochrane Library, PubMed, ISI web of science, and Scopus during June 2021. We selected randomized clinical trials (RCTs) that compared ultrasound-guided IUI versus classical IUI in different pregnancy outcomes. We extracted the available data from included studies and pooled them in a meta-analysis model using RevMan software. Our primary outcome was clinical pregnancy rate. Our secondary outcomes were miscarriage, live birth rates, and incidence of difficulty reported during the procedure. The overall quality of evidence was assessed through GRADEpro GDT software. RESULTS: Seven RCTs met our inclusion criteria with a total number of 1338 patients. We found that ultrasound-guided IUI significantly improved the clinical pregnancy rate when compared to the classical group (RR = 1.33, 95% CI [1.05, 1.68], p = 0.02). However, there were no significant differences between both groups in terms of miscarriage and live birth rates. Ultrasound-guided IUI significantly reduced the incidence of difficulty reported during the procedure (RR = 0.42, 95% CI [0.21, 0.84], p = 0.01). The GRADEpro GDT tool showed high quality of evidence for the evaluated outcomes. CONCLUSIONS: There is evidence of high quality that ultrasound-guided IUI improves the pregnancy rate and reduces the incidence of difficulty reported during the procedure.


Asunto(s)
Fertilización In Vitro , Nacimiento Vivo , Femenino , Humanos , Inseminación , Inseminación Artificial , Embarazo , Índice de Embarazo , Ensayos Clínicos Controlados Aleatorios como Asunto
12.
Front Pediatr ; 9: 582816, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33937142

RESUMEN

Background: Craniosynostosis (CS) is defined as pre-mature fusion of one or more of the cranial sutures. CS is classified surgically as either simple or complex based on the number of cranial sutures involved. CS can also be classified genetically as isolated CS or syndromic CS if the patient has extracranial deformities. Currently, the link between clinical and genetic patterns of CS in the Saudi population is poorly understood. Methodology: We conducted a retrospective cohort study among 28 CS patients, of which 24 were operated and four were not. Clinical and genetic data were collected between February 2015 and February 2019, from consenting patient's families. The electronic chart data were collected and analyzed including patient demographics, craniofacial features, other anomalies and dysmorphic features, operative data, intra cranial pressure (ICP), parent consanguinity and genetic testing results. Results: The most common deformity in our population was trigonocephaly. The most performed procedure was cranial vault reconstruction with fronto-orbital advancement, followed by posterior vault distraction osteogenesis and suturectomy with barrel staving. Genetics analysis revealed pathogenic mutations in FGFR2 (6 cases), TWIST1 (3 cases), ALPL (2 cases), and TCF12 (2 cases), and FREM1 (2 case). Conclusion: Compared to Western countries, our Saudi cohort displays significant differences in the prevalence of CS features, such as the types of sutures and prevalence of inherited CS. The genomic background allows our phenotype-genotype study to reclassify variants of unknown significance. Worldwide, the sagittal suture is the most commonly affected suture in simple CS, but in the Saudi population, the metopic suture fusion was most commonly seen in our clinic. Further studies are needed to investigate the characteristics of CS in our population in a multicenter setting.

13.
Am J Case Rep ; 21: e925673, 2020 Aug 31.
Artículo en Inglés | MEDLINE | ID: mdl-32866137

RESUMEN

BACKGROUND Colorectal cancer (CRC) in pregnancy is very rare. It is often associated with poor prognosis which is contributed to delayed diagnosis due to the overlapping symptoms of CRC and pregnancy. The purpose of this case report is to highlight the importance of early diagnosis and treatment of CRC in a young pregnant patient with good maternal and fetal outcomes. CASE REPORT A 30-year-old patient, gravida 3, presented at 9-week gestation with a history of sudden painless, fresh, rectal bleeding with no aggravating factors such as constipation or hemorrhoids. Sigmoidoscopy showed a small fungating, intramural mass, 40 cm from the anal verge, which easily bled upon touch. The rest of the colon up to the terminal ilium was normal. The mass was completely removed during the sigmoidoscopy procedure, and the histopathological diagnosis was a tubulovillous adenoma with focal intramucosal carcinoma. After the polypectomy procedure, the patient had an uneventful, bleeding-free pregnancy and delivered a healthy baby at full term. The sigmoidoscopy procedure was considered to be both diagnostic and therapeutic since the entire mass was completely removed. CONCLUSIONS Early diagnosis and intervention are critical in improving the overall outcome of CRC in pregnancy and requires a high index of clinical suspicion. Taking a detailed patient history, exercising attentiveness, and conducting thorough investigations of all symptomatic pregnant women are recommended. Treatment options should involve a multidisciplinary team with consideration to the patient's own choices.


Asunto(s)
Neoplasias del Colon , Neoplasias Colorrectales , Complicaciones Neoplásicas del Embarazo , Neoplasias del Recto , Adulto , Neoplasias Colorrectales/diagnóstico , Femenino , Humanos , Embarazo , Complicaciones Neoplásicas del Embarazo/diagnóstico , Complicaciones Neoplásicas del Embarazo/cirugía , Neoplasias del Recto/diagnóstico , Neoplasias del Recto/cirugía
14.
Eur J Med Genet ; 63(5): 103844, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-31953238

RESUMEN

This report describes siblings with Stromme syndrome, a rare genetic condition that primarily presents with a triad of intestinal atresia, cranial and ocular malformations, and other organ systems could be involved. This clinical triad was initially named after the first person to describe it in 1993. Here, we report a family with two siblings who presented with unusual intestinal atresia and ocular and CNS abnormalities. The first patient is a 6-year-old-boy with apple peel duodeno-jejunal atresia, unilateral microphthalmia and microcephaly. The second patient, a younger brother, presented with intestinal atresia, corneal opacity and alobar holoprosencephaly and passed away at the age of 3 months. Exome sequencing showed a novel homozygous variant in the CENPF gene, NM_016343.3: c.1195-2 A > G that was detected in both of the affected siblings. This is a report and literature review of CENPF-related ciliopathy, which may result in Stromme syndrome. As this is the fourth report linking the CENPF gene variant with Stromme syndrome and first reported case presented with holoprosencephaly, it will expand the current knowledge on the genotype and the phenotype of Stromme syndrome.


Asunto(s)
Proteínas Cromosómicas no Histona/genética , Anomalías del Ojo/genética , Atresia Intestinal/genética , Microcefalia/genética , Proteínas de Microfilamentos/genética , Fenotipo , Niño , Anomalías del Ojo/patología , Homocigoto , Humanos , Lactante , Atresia Intestinal/patología , Masculino , Microcefalia/patología , Mutación , Linaje
15.
J Endocr Soc ; 4(2): bvz028, 2020 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-32110744

RESUMEN

BACKGROUND: The TBX1 gene encodes the T-box 1 protein that is a transcription factor involved in development. Haploinsufficiency of the TBX1 gene is reported to cause features similar to DiGeorge syndrome. The TBX1 gene is located within the DiGeorge syndrome region, and studies support that the TBX1gene is responsible for most of the features of the phenotype of hemizygous deletion of chromosome 22q11.2. In this study, we report a family of 4 (a father with 3 children) who presented with congenital hypoparathyroidism and hypocalcemia, facial asymmetry, deafness, normal intelligence, and no cardiac involvement. METHODS: We performed whole genome sequencing, computational structural analysis of the mutants, and gene expression studies for all affected family members. RESULTS: Whole genome sequencing revealed a paternal inherited novel heterozygous variant, c.1158_1159delinsT p.(Gly387Alafs*73), in the exon 9 isoform C TBX1 gene, causing a loss of nuclear localization sequence (NLS) and transactivation domain (TAD) with no change in gene expression and resulted in a DiGeorge-like phenotype. CONCLUSION: A pathogenic variant in the TBX1 gene exon 9 C that predicted to cause a loss in the NLS region and most of TAD leads to variable features of hypoparathyroidism, distinctive facial features, deafness, and no cardiac involvement. In addition, our report and previous reports indicate the presence of a wide phenotypic spectrum of TBX1 genetic variants and the consistent absence of cardiac involvement in the case of pathogenic variants on exon 9 isoform C TBX1 gene.

16.
J Med Case Rep ; 13(1): 198, 2019 Jun 29.
Artículo en Inglés | MEDLINE | ID: mdl-31253193

RESUMEN

BACKGROUND: Prune belly syndrome is a rare congenital condition of uncertain etiology. It is characterized with a triad of abdominal distension due to deficient abdominal wall, genitourinary tract anomalies, and musculoskeletal anomalies. This condition varies in its severity which makes diagnosis challenging during early antenatal scanning. CASE PRESENTATION: We reported a severe phenotype of prune belly syndrome which was not fully suspected in a 29-year-old Saudi woman was G4T2P0A1L2 at 21 weeks of gestation at the time of early antenatal presentation; however, it became apparent during diagnosis at a subsequent follow-up scan during advanced gestational age. CONCLUSION: We conclude that suspicion of such anomalies through an early antenatal scan require an urgent further follow-up scan in a tertiary center. The referral to the tertiary center must be to an experienced ultrasonographer and maternal-fetal medicine specialist for a decision to be made antenatally regarding the course of pregnancy and post-delivery management based on the severity of the condition.


Asunto(s)
Síndrome del Abdomen en Ciruela Pasa/diagnóstico por imagen , Ultrasonografía Prenatal , Aborto Inducido , Adulto , Femenino , Humanos , Recién Nacido , Masculino , Embarazo
17.
Saudi Med J ; 39(3): 301-304, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29543310

RESUMEN

Rectus sheath hematoma is a collection of blood in the sheath of rectus abdominis muscle due to an injury of one of the epigastric vessels or the muscle itself. It is a rare condition that could be caused by the use of anticoagulant injections. We report a 60-year-old lady who received enoxaparin injection on the lower abdomen. Subsequently, she developed bladder perforation secondary to rectus sheath hematoma and was diagnosed using CT angiography scan. Exploratory laparotomy was performed and bleeding was controlled with bladder wall repair. Patient developed multi-organ failure. Three days later, the patient died. Rectus sheath hematoma is a rare condition and it is often associated with the use of anticoagulant injection. Healthcare providers should be aware of such complication for prevention and early diagnosis.


Asunto(s)
Anticoagulantes/efectos adversos , Enoxaparina/efectos adversos , Hematoma/complicaciones , Enfermedades Musculares/complicaciones , Recto del Abdomen , Enfermedades de la Vejiga Urinaria/etiología , Anticoagulantes/administración & dosificación , Enoxaparina/administración & dosificación , Resultado Fatal , Femenino , Hematoma/inducido químicamente , Humanos , Inyecciones Intramusculares/efectos adversos , Persona de Mediana Edad , Enfermedades Musculares/inducido químicamente , Recto del Abdomen/irrigación sanguínea , Recto del Abdomen/lesiones
18.
Urol Ann ; 10(4): 363-368, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30386087

RESUMEN

CONTEXT: urethral strictures commonly occur and considered difficult to manage due to high recurrence rate and wide variety of management approach. AIMS: This study aims to identify how urologists in Saudi Arabia manage new and recurrent urethral stricture cases and to investigate their opinions regarding urethroplasty. SETTINGS AND DESIGN: A cross-sectional study (Online Survey) among urologists. SUBJECTS AND METHODS: A nationwide survey of urologists registered with the Saudi Commission for Health Specialties was performed through a mailed questionnaire. A total of 603 urologists were selected from all five regions of Saudi Arabia, of whom 216 (35.8%) completed the questionnaire. STATISTICAL ANALYSIS USED: SPSS software version 23 was used for data entry and analysis. RESULTS: Most urologists (40.3%) had treated 1-5 urethral strictures in the past year. The most common procedures used to manage urethral strictures were visual urethrotomy (82.4%), cystoscopy and dilatation (62.2%), and excision and primary anastomosis (20.8%). Minimally invasive procedures were used more frequently than any open urethroplasty techniques. Most urologists (63%) did not perform urethroplasty surgery, and 21.8% were not aware of any adult reconstructive urologists in Saudi Arabia. When used, however, the most commonly performed urethroplasty surgeries were excision and primary anastomosis, dorsal buccal graft augmented urethroplasty, and ventral buccal graft augmented urethroplasty. CONCLUSIONS: Minimally invasive methods are easy to perform and have good short-term outcomes. As such, they are more commonly used for the management of urethral strictures. On the other hand, urethroplasty surgeries are challenging procedures that require greater experience and skill.

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