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1.
J Coll Physicians Surg Pak ; 33(6): 666-672, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37300263

RESUMEN

OBJECTIVE: To evaluate the clinicopathological characteristics of mismatch repair (MMR) deficiency and its clinical outcomes by performing immunohistochemistry (IHC) for MMR genes in the serous ovarian cancer (SOC) tumour sections. STUDY DESIGN: A retrospective case-control study. Place and Duration of the Study: Gynecology Department of Kanuni Sultan Süleyman Training and Research Hospital, and Department of Medical Oncology of Medipol University, between March 2001 and January 2020. METHODOLOGY: IHC was carried out for MLH1, MSH2, MSH6, and PMS2 on full-section slides from 127 SOCs to evaluate the MMR status. MMR-negative and MMR-low groups together were defined as MMR deficient and called microsatellite instability-high (MSI-H). The MSI status and expression of programmed cell death-1 (PD-1) were compared in SOCs with different MMR statuses. RESULTS: A significantly higher frequency of MMR-deficient SOCs was diagnosed at early stages compared with the patients in the MSS group (38.6% and 20.6%, respectively, p=0.022). The frequency of cases with PD-1 expression was significantly higher in the MSI-H group (76.2%) than in the MSS counterparts (58.8%, p=0.028). Patients in the MSI-H group had significantly longer DFS (25.6 months) and OS (not reached) than those in the MSS group (16 months and 48.9 months, p=0.039 and p=0.026, respectively). CONCLUSION: MSI-H SOCs were diagnosed at an earlier stage as compared to MMR proficient cases. The presence of PD-1 expression was significantly higher in cases presenting MMR deficiency compared with MMR-proficient cases. MSI status was significantly associated with DFS and OS. KEY WORDS: Serous ovarian cancer, Microsatellite instability, Mismatch repair deficiency.


Asunto(s)
Cistadenocarcinoma Seroso , Neoplasias Ováricas , Humanos , Femenino , Reparación de la Incompatibilidad de ADN/genética , Inestabilidad de Microsatélites , Receptor de Muerte Celular Programada 1/genética , Estudios Retrospectivos , Estudios de Casos y Controles , Carcinoma Epitelial de Ovario , Neoplasias Ováricas/genética , Neoplasias Ováricas/patología , Cistadenocarcinoma Seroso/genética
2.
J Coll Physicians Surg Pak ; 32(12): 1570-1575, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36474377

RESUMEN

OBJECTIVE: To examine maternal serum Cripto-1 levels in placenta accreta spectrum (PAS) pregnancies and compare them with placenta previa (PP) cases and healthy pregnancies. STUDY DESIGN: A prospective case-control study. PLACE AND DURATION OF STUDY: Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey, from April to September 2021. METHODOLOGY: Sixty singleton pregnant patients with PP complicated with PAS were enrolled, 45 singleton pregnant women with a diagnosis of PP without PAS, and 48 healthy uncomplicated gestational age-matched singleton pregnant women. Cripto-1 levels were determined and evaluated. RESULTS: The median maternal serum concentrations of Cripto-1 were greater in pregnant women with PAS (3.11 ng/mL) than in the PP (2.52 ng/mL) and the control groups (2.01 ng/mL, p<0.001). Based on the Youden index, a 2.557 ng/mL cut-off value of maternal serum Cripto-1 level had a 76.7% sensitivity and 72.1% specificity to diagnose pregnancies complicated with PAS. A negative and statistically significant linear relationship was found between maternal serum Cripto-1 concentration and the gestational week at birth (r= -0.325, p<0.001). A positive and statistically significant linear relationship was found between maternal serum concentrations of Cripto-1 and maternal length of hospital stay after birth (r= 0.320, p<0.001). CONCLUSION: Serum Cripto-1 levels were significantly increased levels in pregnant women suffering from PAS than in pregnant women with PP and uncomplicated healthy pregnancies. Higher expression of Cripto-1 might be a crucial factor in the pathogenesis of PAS. KEY WORDS: Abnormal placental implantation, placenta accreta spectrum, Cripto-1, Placenta previa.


Asunto(s)
Familia , Placenta , Embarazo , Recién Nacido , Femenino , Humanos , Estudios de Casos y Controles , Estado de Salud , Turquía
3.
J Obstet Gynaecol ; 42(7): 2659-2664, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35653805

RESUMEN

The prenatal diagnosis of intra-abdominal cystic lesions is relatively common and it can be due to a wide variety of clinical conditions. The aims of this study were to determine the accuracy of the prenatal ultrasound in identifying the aetiology of foetal intra-abdominal cysts and to describe the prenatal and postnatal outcomes. This study is a retrospective analysis of 137 foetuses diagnosed with intraabdominal cysts during the prenatal period, except those originating from the urinary system, conducted from April 2015 to August 2018. Among 137 intraabdominal cysts identified as antenatal, ovarian cysts had the highest rate of prenatal diagnosis. The most frequently misdiagnosed pathologies were gastrointestinal system obstructions with 6 cases. There were 129 (94.2%)cases of intraabdominal cysts born alive. Intrabdominal cystic lesions resolved spontaneously in 23(16.8%) cases in the intrauterine period and 28 cases within 12 (20.4%) months after birth during follow-up. Postpartum surgical treatment was performed in 44 (%32.1) cases. The overall neonatal mortality was 21/137 (15.3%),with no death in the intrauterine period; 8(5.8%) of these were death following termination of pregnancy, 6(4.4%) were postpartum, and 7(5.1%) were post-surgical death. Postnatal results of intraabdominal cysts are variable. Therefore, individual assessing and managing each case is of clear benefit due to cyst's variable course. IMPACT STATEMENTWhat is already known on this subject? The prenatal diagnosis of intra- abdominal cystic lesions is relatively common and prenatal ultrasound is the main screening tool. The diagnosis of a foetal intra-abdominal cyst might represent a diagnostic and management dilemma due to the wide variety of potential diagnosis.What the results of this study add? The accuracy of prenatal ultrasound in identifying the origin of a foetal intra-abdominal cyst seems to be high with detailed ultrasonographic examinations and the perinatal outcome of these foetuses is favourable in most of them.What the implications are of these findings for clinical practice and/or future research? Regardless of the cyst's origin, it should be kept in mind that prenatal and postnatal clinical courses can be variable in each case, and every pregnant woman with a foetus with an intraabdominal cyst must be managed individually in every aspect.


Asunto(s)
Quistes , Quistes Ováricos , Recién Nacido , Embarazo , Humanos , Femenino , Estudios Retrospectivos , Ultrasonografía Prenatal , Quistes/diagnóstico por imagen , Quistes/cirugía , Quistes Ováricos/diagnóstico por imagen , Quistes Ováricos/cirugía , Feto
4.
J Coll Physicians Surg Pak ; 32(6): 722-727, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35686402

RESUMEN

OBJECTIVE: To examine the performance of first-trimester visceral (pre-peritoneal), subcutaneous, and total adipose tissue thickness (ATT) to predict the patients with subsequently developing gestational Diabetes mellitus (GDM). STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: Department of Obstetrics and Gynecology, Diyarbakir Gazi Yasargil Training and Research Hospital from January 2021 to July 2021. METHODOLOGY: A total of 100 pregnant women underwent sonographic measurement of subcutaneous and visceral ATT at 11-14 weeks' gestation. A 75-g oral glucose tolerance test (OGTT) was conducted between 24-28 weeks of pregnancy for the diagnosis of GDM. RESULTS: The mean visceral, subcutaneous, and total ATT were significantly higher in the GDM group (24.75 ± 10.34 mm, 26.33 ± 5.33 mm, 51.08 ± 14.4 mm) than in the group without a GDM diagnosis (16.68 ± 6.73 mm, 17.68 ± 4.86 mm, 34.25 ± 11.04, respectively, p<0.001). A pre-gestational BMI >30 kg/m2 (Odds ratio [OR]=10.20, 95% CI=2.519-41.302, p=0.001), visceral ATT (OR=33.2, 95% CI=7.395-149.046, p<0.001), subcutaneous ATT (OR=4.543, 95% CI=1.149-17.960, p=0.031), and total ATT (OR=10.895, 95% CI=2.682-44.262, p=0.001) were the factors that were found to be significantly associated with the subsequent development of GDM after adjusting for potential confounders (maternal age, and parity). The most significant risk factor for the prediction of GDM is visceral ATT with an OR of 33.2. CONCLUSION: US measurement of maternal visceral ATT during first-trimester fetal aneuploidy screening is a reliable, reproducible, cost-effective, and safe method to identify pregnant women at high risk for GDM. KEY WORDS: Gestational diabetes mellitus, Visceral adipose tissue thickness, Subcutaneous adipose tissue thickness.


Asunto(s)
Diabetes Gestacional , Diabetes Gestacional/diagnóstico , Femenino , Edad Gestacional , Prueba de Tolerancia a la Glucosa , Humanos , Grasa Intraabdominal/diagnóstico por imagen , Embarazo , Primer Trimestre del Embarazo
5.
Arch Gynecol Obstet ; 306(3): 745-752, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-34981204

RESUMEN

PURPOSE: To give a report on the experience of our tertiary perinatology clinic on the pre- and postnatal management of the right aortic arch (RAA) by evaluating the patients as isolated and non-isolated RAA. MATERIALS AND METHODS: Patients referred to our perinatology clinic for fetal echocardiography were evaluated retrospectively. They were assessed in two groups: isolated RAA and non-isolated RAA. The isolated RAA group consisted of patients without any additional cardiac or extracardiac anomalies. According to our routine practice, all patients received detailed prenatal ultrasonography following fetal echocardiography and genetic counseling. RESULTS: A total of 60 patients were evaluated. 38 patients (63.3%) presented with additional cardiac anomalies. 21.7% had extracardiac anomalies, including 16.7% who also had cardiac anomalies. In 2 patients (3.7%) 22q11.2 microdeletion, in 2 patients (3.7%) trisomy 21, in 1 patient (1.9%) trisomy 13 and in 1 patient (1.9%) 20p12.1p11.23 (a deletion of 2880 kbp) were reported. The most common cardiac anomaly associated with RAA was Tetralogy of Fallot (25%). Fetal growth restriction was reported in 8.3% of the cases. 18 patients had isolated RAA. 16 out of the 18 patients had normal genetic analysis. 2 of them (11.11%) presented with a 22q11.2 microdeletion. CONCLUSION: A single-center experience on the diagnosis and management of RAA has been reported in this study. The results indicate that a prenatal cardiac evaluation in 3VV is of utmost importance in all pregnancies to detect RAA and refer these patients to the appropriate perinatology clinics for further evaluation and care.


Asunto(s)
Aorta Torácica , Cardiopatías Congénitas , Aorta Torácica/anomalías , Aorta Torácica/diagnóstico por imagen , Femenino , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/genética , Humanos , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Ultrasonografía Prenatal/métodos
6.
J Ultrasound Med ; 40(12): 2607-2615, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33599335

RESUMEN

OBJECTIVES: We aimed to determine if superb microvascular imaging (SMI) can predict response to uterine artery embolization (UAE) as compared with power Doppler ultrasound. METHODS: The blood flow and the volume of the dominant leiomyoma was evaluated by power Doppler ultrasonography (PDUS) and SMI 1 day before and 3 months after the UAE procedure. SMI and PDUS blood flow were classified to 4 grades of vascularity. The change in fibroid volume in Grades 0-2 (hypovascular group) was compared to the hypervascular Grade 3 group. RESULTS: Twenty-eight women (mean age, 40.9 years; range, 33-53 years) were examined with PDUS and SMI before and 3 months after UAE. The volume reduction was statistically significantly higher hypervascular group (P < .05). When we accept 30% or more volume reduction as a good response to UAE, the positive predictive value, negative predictive value, sensitivity, specificity, and accuracy of SMI were 100, 64, 73.6, 100, and 82.1%, respectively. There was excellent agreement between the two blinded observers in SMI measurements. CONCLUSIONS: SMI, with its high reproducibility, provides further microvessel information than PDUS in uterine fibroids. It may be a useful tool in prediction of response to UAE treatment and improve counseling and patient selection for UAE versus medical or surgical treatment options.


Asunto(s)
Leiomioma , Embolización de la Arteria Uterina , Neoplasias Uterinas , Adulto , Femenino , Humanos , Leiomioma/diagnóstico por imagen , Leiomioma/terapia , Reproducibilidad de los Resultados , Resultado del Tratamiento , Ultrasonografía , Ultrasonografía Doppler , Neoplasias Uterinas/diagnóstico por imagen , Neoplasias Uterinas/terapia
7.
Neurocase ; 27(6): 477-480, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34978270

RESUMEN

The corpus callosum (CC) is a thick band of nerve fibers that divides the cerebral cortex lobes into the left and right hemispheres. Prenatal diagnosis of corpus callosum agenesis (partial/total) has been described frequently in the literature. In this case report, a case of corpus callosum dysplasia with different development of the halves of the corpus callosum in the right and left brain hemispheres, which was not previously discussed in the literature, will be described. Whenever we have any doubts about CC, axial, coronal, and sagittal scans of the fetal brain should be performed with TVUSG (transvaginal ultrasonography) or TAUSG (transabdominal ultrasonography) according to the position of the fetal head, and both length and thickness should be measured.


Asunto(s)
Cuerpo Calloso , Ultrasonografía Prenatal , Agenesia del Cuerpo Calloso/complicaciones , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/diagnóstico por imagen , Femenino , Humanos , Embarazo , Diagnóstico Prenatal
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