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Background: Acute myeloid leukaemia (AML) is a disease of the haematopoietic stem cells(HSCs) that is characterised by the uncontrolled proliferation and impaired differentiation of normal haematopoietic stem/progenitor cells. Several pathways that control the proliferation and differentiation of HSCs are impaired in AML. Activation of the Wnt/beta-catenin signalling pathway has been shown in AML and beta-catenin, which is thought to be the key element of this pathway, has been frequently highlighted. The present study was designed to determine beta-catenin expression levels and beta-catenin-related genes in AML. Methods: In this study, beta-catenin gene expression levels were determined in 19 AML patients and 3 controls by qRT-PCR. Transcriptome analysis was performed on AML grouped according to beta-catenin expression levels. Differentially expressed genes(DEGs) were investigated in detail using the Database for Annotation Visualisation and Integrated Discovery(DAVID), Gene Ontology(GO), Kyoto Encyclopedia of Genes and Genomes(KEGG), STRING online tools. Results: The transcriptome profiles of our AML samples showed different molecular signature profiles according to their beta-catenin levels(high-low). A total of 20 genes have been identified as hub genes. Among these, TTK, HJURP, KIF14, BTF3, RPL17 and RSL1D1 were found to be associated with beta-catenin and poor survival in AML. Furthermore, for the first time in our study, the ELOV6 gene, which is the most highly up-regulated gene in human AML samples, was correlated with a poor prognosis via high beta-catenin levels. Conclusion: It is suggested that the identification of beta-catenin-related gene profiles in AML may help to select new therapeutic targets for the treatment of AML.
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ObjectiveWe evaluated if there were more adverse gestational outcomes of pregnant women with unilateral congenital renal agenesis (UCRA). Study design: This single center retrospective case-control study compared maternal complications and neonatal outcomes from 25 women with UCRA to the outcomes of 125 women with two kidneys. Results: UCRA women had lower gestational weeks at birth and higher rates of preterm delivery (p = 0.004 and <0.001; respectively). Mothers had higher rates of preeclampsia and newborns with congenital anomalies and neonatal intensive care unit (NICU) admission (p = 0.009, 0.042, and 0.039; respectively). Unadjusted odds ratios were significantly higher for preterm delivery and for any APGAR score of <7 at the first 10 min and preeclampsia [OR (95% CI):13.5 (4.66-39.05), 31 (3.44-279.32) and 5.76 (1.33-24.84), respectively]. Conclusion: Maternal UCRA is a risk factor for less optimal obstetric and neonatal outcomes.
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Pré-Eclâmpsia , Nascimento Prematuro , Estudos de Casos e Controles , Anormalidades Congênitas , Feminino , Humanos , Recém-Nascido , Rim/anormalidades , Nefropatias/congênito , Gravidez , Resultado da Gravidez , Gestantes , Estudos RetrospectivosRESUMO
AIM: To investigate the relationship of cholelithiasis and urolithiasis with Methylenetetrehydrofolate Reductase (MTHFR) polymorphism(s) in patients with poor obstetric history to search whether they are risk factors for adverse pregnancy outcome. MATERIALS AND METHOD: This study is consisted of 94 patients with poor obstetric history. Patients were evaluated in terms of the presence of cholelithiasis and urolithiasis in association with MTHFR polymorphism(s). Additional laboratory tests including homocysteine measurements were also performed. ROC analysis for assessing the performance of blood homocysteine level in predicting the presence of cholelithiasis and urolithiasis were also performed. RESULTS: Patients were divided into three groups such as cholelithiasis group (n = 9, 9.6%), urolithiasis group (n = 18, 19.1%) and control group (n = 67, 71.3%). Groups did not differ in term of age and Beksac obstetrics index (BOI) which is "[living child+(π/10)]/gravidity." The rate of the presence of MTHFR polymorphisms were 88.9% (8/9), 88.9% (16/18) and 43.3% (29/67) in cholelithiasis, urolithiasis and control groups respectively. Median homocysteine levels were found to be 13.1, 11.6 and 7.2 micromol/lt for the groups respectively. Statistically significant differences were found for MTHFR polymorphism rates and homocysteine levels (<0.001 for both). According to ROC analysis, 10.9 mcmol/L (88.9% sensitivity, 89.6% specificity) and 9.25 mcmol/L (83.3% sensitivity, 73.1% specificity) were determined to be cutoff values of homocysteine for cholelithiasis and urolithiasis respectively. CONCLUSION: More frequent MTHFR polymorphisms are observed in women with a clinical history of gall or renal stones. Thus, screening of these patients may be benefical for the approprate management of their subsequent pregnancies.
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Colelitíase , Urolitíase , Criança , Colelitíase/epidemiologia , Colelitíase/genética , Feminino , Genótipo , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Gravidez , Fatores de Risco , Urolitíase/epidemiologia , Urolitíase/genéticaRESUMO
OBJECTIVE: To evaluate first trimester screening test parameters in epileptic patients using anti-epileptic drugs. MATERIALS AND METHODS: We retrospectively evaluated first trimester screening test results of 23 epileptic pregnant women using anti-epileptic drugs with a control group consisting of 92 healthy pregnancies. The anti-epileptic drugs used in this study were carbamazepine, levatiracetam, valproic acid and lamotrigine. Single drug or multi-drug regimens were used according to the clinical conditions. Patients with any known chronic or acute disease and drug usage were excluded from the study. Comparisons were performed via Mann-Whitney U test. RESULTS: First trimester screening test biochemical markers were compared and maternal serum PAPP-A MoM values were found to be similar in study and control groups while ß-hCG MoM values were significantly higher in pregnancies using epileptic drugs (p: 0,737 and p < 0.001, respectively). CONCLUSION: Biochemical first trimester screening test results may be affected by anti-epileptic drug usage, which may lead to misinterpretation of the risk level. Thus, validation of MoM values should be necessary in order to obtain optimal results.
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Anticonvulsivantes/efeitos adversos , Epilepsia/sangue , Testes para Triagem do Soro Materno/estatística & dados numéricos , Complicações na Gravidez/sangue , Primeiro Trimestre da Gravidez/sangue , Adulto , Estudos de Casos e Controles , Gonadotropina Coriônica Humana Subunidade beta/sangue , Epilepsia/tratamento farmacológico , Feminino , Humanos , Gravidez , Complicações na Gravidez/tratamento farmacológico , Proteína Plasmática A Associada à Gravidez/análise , Estudos Retrospectivos , Estatísticas não ParamétricasRESUMO
BACKGROUND: The aim of the current study was to demonstrate the neonatal outcomes of infants born to mothers with early-onset preeclampsia (EP) and late-onset preeclampsia (LP), and compare the neonatal outcomes before and after 34 weeks of gestation in EP group. METHODS: In this retrospective study, we evaluated preeclamptic mother and child pairs who were followedup at Hacettepe University Hospital between the years 2010 and 2017. The pregnant women were classified as having EP if diagnosed before 34 weeks of gestation (n=91) and LP if diagnosed after 34 weeks of gestation (n=34). The women in the EP group were further divided into subgroups according to the gestational week at birth, including those who gave birth before 34 weeks of gestation (early birth; n=57) and after 34 weeks of gestation (late birth; n=34). Necessary clinical and demographic data were withdrawn from the electronic registry and patient files. RESULTS: Neonates in the EP/late birth subgroup had significantly lower gestational age and birthweight. Small for gestational age (SGA) frequency was higher in the early-onset subgroup born after 34 weeks` gestation compared to the late-onset preeclampsia group (p= 0,016). The incidence of neutropenia was significantly higher in the EP/late birth subgroup than in the LP group (p= 0.002). After correcting for gestational week and birth weight, neutrophil count was still significantly lower in the EP/late birth subgroup (p= 0.002). EP/late birth subgroup and LP group had comparable outcomes regardless of neutrophil count and SGA rate. CONCLUSIONS: Close follow up and postponing delivery in stable and appropriate pregnant women with preeclampsia would be beneficial for neonates.
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Pré-Eclâmpsia , Peso ao Nascer , Criança , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Pré-Eclâmpsia/epidemiologia , Gravidez , Estudos RetrospectivosRESUMO
We retrospectively evaluated five maternal mortality cases that occurred in our institution within the last 10 years. Rate of maternal mortality was 24.5 per 100000 live births. Maternal mortality causes were cardiopulmonary failure secondary to veno-occlusive disease, septic shock secondary to osteosarcoma, pulmonary thromboembolism secondary to metastatic breast cancer, septic shock secondary to cholecystitis, and postpartum hemorrhage secondary to Niemann-Pick disease. Four out of five cases were evaluated as indirect maternal mortality cases. Three out of five cases ended up with a healthy newborn, while other cases ended up with abortus and postpartum exitus.
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OBJECTIVE: To evaluate obstetric and neonatal outcomes of patients with type 1 diabetes mellitus (T1DM) and compare multidose injection (MDI) and continuous subcutaneous insulin infusion (CSII). STUDY DESIGN: Retrospective study of 53 pregnant patients with T1DM reaching at least 24th gestational week. RESULTS: Fourteen patients (26.4%) hospitalized for insulin dose regulation. Ten patients had hypertensive diseases. Perinatal mortality occurred in 2 neonates owing to cardiac malformations. Neonatal hypoglycemia, small for gestational age, large for gestational age, and neonatal jaundice were demonstrated in 8, 4, 12 and 19 newborns, respectively. Sixteen newborns were admitted to the NICU for various reasons. Congenital malformations were detected in 7 newborns (6 cardiovascular and 1 central nervous system anomaly). Despite lack of statistical significance, total daily insulin doses were higher in the MDI group than in the CSII group with doses of 62 IU (18-166) and 51 IU (20-114), respectively (p=0.119). Gestational and perinatal outcomes also showed no statistical significance. However, all congenital abnormalities and perinatal deaths occurred in the MDI group. CONCLUSION: T1DM in pregnancy is a challenging problem in terms of having better obstetric and perinatal results. CSII may be used safely instead of MDI in appropriate patients.
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Granulomatosis with polyangiitis (GPA) is a rare necrotizing autoimmune disease involving small vessel vasculitis. Pregnancies with GPA have increased rates of obstetric complications including pre-eclampsia. Differential diagnosis of GPA flares up and pre-eclampsia may be difficult and necessitates careful clinical practice. A 26-year-old pregnant woman with GPA was referred for hypertension. The absence of GPA signs and symptoms, negative anti-neutrophil cytoplasmic antibody titer and the presence of clinical and laboratory findings supported the diagnosis of pre-eclampsia rather than a GPA flare-up. The newborn was delivered via cesarean section at the 30th gestational week due to severe superimposed pre-eclampsia. Pathological examination of the placenta demonstrated the presence of chorangiosis and focal placental infarcts. GPA should be considered as a risk factor in pregnancy and requires careful clinical management to have good gestational outcome. Physicians should be vigilant regarding gestational diabetes and pre-eclampsia as well as GPA flare-up.
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Granulomatose com Poliangiite , Pré-Eclâmpsia , Adulto , Anticorpos Anticitoplasma de Neutrófilos , Cesárea , Feminino , Granulomatose com Poliangiite/diagnóstico , Humanos , Recém-Nascido , Inflamação , Placenta , Pré-Eclâmpsia/diagnóstico , GravidezRESUMO
INTRODUCTION: The impact of ABO mismatch on outcomes following allo-HSCT remains controversial. In this study, our aim is to define the effect of ABO mismatch on post-transplant outcomes, engraftment kinetics and complications in a large cohort. PATIENTS AND METHODS: We retrospectively identified 1000 patients who underwent allo-HSCT from either bone marrow or peripheral blood stem cells at our center between 1988 and 2016. P<0.05 was considered statistically significant. RESULTS: Five hundred and ninety (59%) patient-donor pairs were ABO matched, 164 (16.4%) were ABO major mismatched (MM), 191 (19.1%) were ABO minor MM, and 55 (5.5%) were ABO bi-directionally MM. ABO matched pairs were more common in transplants from related donors (P<0.001) and using bone marrow as a stem cell source (P<0.001). In minor ABO MM transplantations, mild delayed hemolytic reaction occurred more frequently compared to major and bidirectional ABO MM transplantations (47% vs 35% and 18%, P<0.001). Neutrophil engraftment was slightly delayed in ABO MM patient-donor pairs when compared ABO matched donor pairs according to median engraftment time in all group (167/410, 41% vs 204/590, 35%, P=0.046). Pure red cell aplasia was diagnosed in 6 patients (1%). Higher risk of death was shown in ABO MM transplants compared to ABO matched transplants in overall survival (OS) analysis (HR:1.201, 95% CI:1.004-1.437, P=0.045). The non-relapse mortality (P=0.546) and cumulative incidences of acute graft versus host disease (aGVHD) and chronic (c) GVHD were comparable between ABO MM and ABO matched patient-donor pairs (for aGVHD, P=0.235; for cGVHD, P=0.137). CONCLUSION: ABO MM transplants were associated with decreased OS and slightly delayed neutrophil engraftment. NRM and the risk of GVHD were not related to ABO incompatibility.
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Sistema ABO de Grupos Sanguíneos/imunologia , Incompatibilidade de Grupos Sanguíneos/imunologia , Transplante de Células-Tronco Hematopoéticas , Adolescente , Adulto , Idoso , Transplante de Medula Óssea , Intervalo Livre de Doença , Feminino , Sobrevivência de Enxerto , Doença Enxerto-Hospedeiro/epidemiologia , Doença Enxerto-Hospedeiro/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Transplante de Células-Tronco Hematopoéticas/mortalidade , Hemólise , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Neoplasias/mortalidade , Neoplasias/terapia , Contagem de Plaquetas , Estudos Retrospectivos , Transplante Homólogo , Resultado do Tratamento , Adulto JovemRESUMO
In this study, we aimed to demonstrate cord blood immature granulocyte (IG) count and delta neutrophil index (DNI) values for term neonates. This retrospective study consisted of 126 term newborns born between July 2017 and December 2017. Cord blood samples were collected during delivery and IG count together with DNI values were obtained. `Beckman Coulter DXH800 System Hematology Analyzer` was used for analysis and calculations. The median DNI value was found to be 1.0 (interquantile range(IQR) 0.5-1.8%) and the median gestational age at delivery was 38.4 (IQR 37.6-39.0) weeks. The median birth weight and IG count were 3250 (IQR 2955-3593) g and 66 (IQR 26.5-112.3)/mm3, respectively. In conclusion, we believe that determining the normal laboratory reference values of IG count or DNI, which are important potential diagnostic markers for neonatal sepsis, will contribute to future studies on the diagnosis of neonatal sepsis.
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Sepse Neonatal , Neutrófilos , Sangue Fetal , Humanos , Recém-Nascido , Contagem de Leucócitos , Estudos RetrospectivosRESUMO
OBJECTIVE: To demonstrate major congenital abnormalities delivered or terminated at our institution between 2014 and 2018. MATERIALS AND METHODS: Necessary information was retrieved from the registries of the delivery room and electronic database of Hacettepe University Hospital, Ankara. RESULTS: This study was consisted of 307 major congenital anomalies. The incidence of major congenital anomalies was 2.9 per 1,000 live births, while the majority of the cases were related to cardiovascular, central nervous system, and diaphragmatic hernia with 97, 87, and 25 cases at each group, respectively. Rate of termination of pregnancy (TOP) and live birth were 35.1 and 59.2%, respectively. The overall infant mortality rate was 28.9% in cases with live birth, while this rate was highest in cardiovascular system abnormalities and diaphragmatic hernia. Out of 182 newborns, 92.8% admitted to the neonatal intensive care unit after the delivery. Median gestational week at TOP was 21(20). CONCLUSION: We have shown that TOP and infant mortality rates were 35.1 and 28.9%, respectively in pregnancies with fetal malformations. Detailed multidisciplinary counseling must be provided for parents in pregnancies with major congenital abnormalities.
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Hérnias Diafragmáticas Congênitas , Feminino , Humanos , Incidência , Lactente , Mortalidade Infantil , Recém-Nascido , Nascido Vivo , Gravidez , Sistema de RegistrosRESUMO
Objective: To compare fetal cell microchimerism in normal and immunocompromised gestations. Materials and methods: The study consists of two groups of mature female mice. In the control group and the immunocompromised study group, 5 mg of saline and cyclosporine were injected intraperitoneally, respectively. In the second step, all female mice were mated with "Actine-Luc (+) green fluorescent protein (GFP)" transgenic male mice. Immunohistochemical studies (ALPL-antiluciferase, cytokeratin-antiluciferase, and CD 105-antiluciferase) were carried out on maternal liver, skin, and lung tissues at 6-7th and 14-15th gestational days, and postpartum 3-4th, 12th, and 18-24 months. Results: GFP (+) cells were detected in maternal liver and skin but not in lung tissue. Liver was the most affected tissue. GFP was found to be more intense in the immunocompromised group. Conclusion: Fetal microchimerism was demonstrated in maternal liver and skin and found to be more intensive in the immunocompromised group.
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Quimerismo , Feto , Animais , Feminino , Proteínas de Fluorescência Verde/genética , Masculino , Camundongos , Camundongos Transgênicos , Período Pós-Parto , GravidezRESUMO
AIM: To share the chorionic villus sampling (CVS) experience of a single surgeon in our institution. METHODS: This retrospective study consists of CVS cases performed between 2000 and 2018. A total of 66 types of indications were classified under two main categories, the screening group (SG) and the inherited disease group (IDG). The SG and IDG were compared in terms of clinical characteristics of the patients, Beksaç obstetrics index (BOI), timing of CVS in terms of gestational week, and complications and termination of pregnancy (TOP) rate. RESULTS: CVS was performed at 656 women, 69 and 587 of whom were included in the SG and IDG, respectively. CVS indications of the SG were determined as advanced maternal age, high risk in combined test, fetal anomaly suspicion in ultrasonography, and increased nuchal translucency in 23, 23, 14 and 9 cases, respectively. On the other hand, CVS indications of the IDG were hereditary disorders related to hematological, muscular, and metabolic systems for 233, 179, and 116 cases, respectively. Furthermore, 32 patients had a single-gene disorder and 14 had a neurodegenerative disease. According to the results of CVS, 359 fetuses were found to be normal (54.73%), while 205 (31.25%) and 92 (14.02%) fetuses were found to be disorder-positive or carriers, respectively. Two hundred pregnant women accepted TOP. Eight (1.2%) pregnancies ended with abortion after CVS. Statistically significant differences were observed in BOI and TOP rate between SG and IDG (p: 0.042 and 0.013). CONCLUSION: Hereditary disorders were the most common CVS indications and the acceptance of TOP was significantly higher in this group.
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Amostra da Vilosidade Coriônica , Doenças Fetais/diagnóstico , Doenças Genéticas Inatas/diagnóstico , Aborto Induzido/estatística & dados numéricos , Adulto , Feminino , Doenças Fetais/genética , Doenças Genéticas Inatas/genética , Idade Gestacional , Humanos , Pessoa de Meia-Idade , Gravidez , Estudos Retrospectivos , TurquiaRESUMO
Objective: To evaluate perinatal outcomes in human immunodeficiency virus (HIV) infected pregnant women in Turkey. Material and Methods: Maternal characteristics, pregnancy complications, laboratory findings including HIV load, CD4 cell count, CD4/CD8 ratio, neonatal features and final HIV status of the baby were retrospectively analyzed. Results: The sample included 26 singleton pregnancies, from 25 HIV-infected women. The ethnicities were Turkish (n=18), East European (n=4), Asian (n=2) and African (n=2). The majority (76.9%) was aware of their HIV status before becoming pregnant. Four cases (15.3%) were diagnosed during pregnancy and two (7.8%) at the onset of labor. The results for median HIV viral load, CD4 count, and CD4/CD8 ratio at birth were 20 copies/mL (0-34 587), 577/mm3 (115-977), and 0.7 (0.1-1.9), respectively. The HIV viral load rate was 5.5% in eighteen women taking anti-retroviral treatment. The rates of gestational diabetes mellitus, gestational hypertension, intrauterine growth restriction, and preterm delivery were 3.8%, 3.8%, 7.6%, and 8% (numbers are 1;1;2;2), respectively. The mean gestational week at birth was 38 weeks and mean birthweight is 2972±329 g. Two babies were congenitally infected with HIV (infection rate of 8.3%). There was one needle-related accident during surgery. Conclusion: Timely diagnosis of HIV infection during pregnancy is important for preventing mother to child transmission. HIV infected women may give birth to HIV negative babies with the help of a multidisciplinary team, composed of perinatology, infectious diseases, and pediatrics specialists.
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Objective: We aimed to evaluate congenital heart disease (CHD) cases according to EUROCAT subgroup classification that were diagnosed during the prenatal period in our center.Methods: CHDs that were prenatally diagnosed using ultrasonography and confirmed by fetal echocardiography were reviewed over a 10-year period. Subgroup classification was finalized at the post-partum period in terms of the EUROCAT guide 1.3. Congenital heart defect subtypes and obstetric outcomes (gestational week at delivery, birth weight, gender, extracardiac structural abnormalities, karyotype results if performed) were analyzed.Results: The data of 180 cases with CHD were examined. Left ventricular outflow tract obstruction (LVOT) was the most common CHD subtype (57/180; 31.6%), which included 48, five, and four cases of hypoplastic left heart syndrome (HLHS), coarctation of the aorta, and aortic valve atresia/stenosis, respectively. Eighteen pregnancies were terminated; the most common CHD subtype among patients of terminated pregnancies was hypoplastic left heart syndrome (HLHS) (n = 7, 38.8%). The most common extracardiac malformations were a single umbilical artery, esophageal atresia, and situs inversus in our study group. Eighteen of the 96 (18.75%) neonates with CHD died during the neonatal period. The most common CHD subtype was HLHS (7/18; 38%) among the newborns who died after birth.Conclusion: Prenatal diagnosis of a CHD and subgroup classification is very important for clinical decision making, including prenatal management, recommendations for termination of the pregnancy, postnatal management of the patient, and for early referral to pediatric cardiology and cardiovascular surgery centers.
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Cardiopatias Congênitas/epidemiologia , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Gravidez , Estudos Retrospectivos , Turquia/epidemiologia , Ultrassonografia Pré-NatalRESUMO
Objective To evaluate the characteristics of obstetric admissions to an intensive care unit (ICU) and assess the utility of Acute Physiology and Chronic Health Evaluation II (APACHE II), Sequential Organ Failure Assessment (SOFA) and the Glasgow Coma Scale (GCS). Methods This study is consisted of 160 patients admitted to an ICU during the antenatal period or within 7 days at the postpartum period. Clinical characteristics and ICU scores were evaluated. Results The rate of admission to the ICU was 7.8/1000 deliveries. Four cases ended with maternal mortality (2.5%). The most common hospitalization indications were hypertensive disorders of pregnancy, cardiovascular disorders and obstetric hemorrhage, at 40 (25%), 34 (21.2%), and 31 (19.3%) cases, respectively. The receiver operating characteristics (ROC) curve analysis for prediction of maternal mortality revealed area under curve (AUC) values as 0.971 both for APACHE II and predicted mortality rate (PMR), and 24.5 and 47.1 were determined as the cut-offs with sensitivities of 100%. AUCs were also 0.901 and 0.929 for the initial and worst SOFA score, respectively. The cut-off value for the initial and worst SOFA score was 3.5, with a sensitivity of 100%, and was 10 with a specificity of 98.9%, respectively. Conclusion APACHE II and PMR overpredict maternal mortality, but those higher scores predict maternal mortality. Higher SOFA scores are related with maternal mortalities with high specificity.
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Unidades de Terapia Intensiva/estatística & dados numéricos , Admissão do Paciente/estatística & dados numéricos , Complicações na Gravidez/diagnóstico , Índice de Gravidade de Doença , APACHE , Adolescente , Adulto , Feminino , Escala de Coma de Glasgow , Humanos , Mortalidade Materna , Escores de Disfunção Orgânica , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/terapia , Prognóstico , Estudos Retrospectivos , Sensibilidade e Especificidade , Turquia/epidemiologia , Adulto JovemRESUMO
The aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the PND of OAs. Median maternal age, parity, gestational week of IPNDT, prenatal test indications, OA types, method of IPNDT, IPNDT results and gestational outcomes were evaluated. Targeted mutation analysis was performed in fetal DNA for the specific mutations by using polymerase chain reaction (PCR) and direct Sanger sequencing. The diagnosis was confirmed by genetic targeted mutation analysis after birth. Median maternal age, parity and gestational week of IPNDT values were 30 (range 21-35), one (range 0-4) and 11.5 (range 11-17), respectively. Indications for IPNDT were mother being a carrier of the disease for one case (10.0%) and at least one child with OA in the family for nine cases (90.0%). Organic acidemia types investigated were maple syrup urine disease (MSUD), methylmalonic acidemia (MMA) and isovaleric acidemia (IVA) in five (50.0%), three (30.0%) and two (20.0%) patients, respectively. Chorion villus sampling (CVS) was done in seven (70.0%) patients and amniocentesis was performed in three (30.0%) patients. Eight fetuses (80.0%) were found to be healthy and two fetuses (20.0%) were found to be affected (one case with IVA and one case with MMA). The two pregnancies (20.0%) with affected fetuses were terminated. Prenatal diagnosis of OAs is critical. Appropriate prenatal counseling should be given to families with known risk factors.
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This study aimed to investigate the relationship between HPV and autoimmune disorders. We retrospectively evaluated 62 women who had HPV-DNA positivity in terms of autoimmune disorders (autoimmune antibody positivity, chronic inflammatory diseases and autoimmune diseases). The patients were divided into two groups according to autoimmune disorder positivity (autoimmune positive (n = 30), autoimmune negative (n = 32)) and compared with each other in terms of single and multiple HPV-DNA types, high and low-risk HPV-DNA types, and Pap smear findings. We determined that 48.4% of the HPV-DNA positive patients had autoimmune disorders. We found that 15 of 62 (24.2%) women had more than one type of HPV and HPV type 16 was the dominant type in this study (58.2%). A total of 27.4% of HPV-DNA positive patients had abnormal cytological findings. There was no statistically significant difference between autoimmune groups in terms of the presence of high-risk HPV types, multiple HPV types and abnormal cytological findings (P = 0.531, P = 0.558 and P = 0.234, respectively). The prevalence of autoimmune disorders was high among HPV-DNA positive women. On the other hand, the rate of high-risk HPV type positivity, multiple HPV infections and cytopathological findings were similar between the autoimmune positive and negative groups.
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Doenças Autoimunes/epidemiologia , Infecções por Papillomavirus/complicações , Feminino , Genótipo , Humanos , Papillomaviridae/classificação , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/virologia , Prevalência , Estudos Retrospectivos , Centros de Atenção TerciáriaRESUMO
AIM: To evaluate the short-term effectiveness of connective tissue manipulation (CTM) for relieving menstrual pain and symptoms in primary dysmenorrhea (PD). METHODS: Forty-four women with PD were randomly assigned to treatment (nâ¯=â¯21) or control group (nâ¯=â¯23). While the control group was given only advising, the treatment group additionally received CTM. The primary outcome was the menstrual pain intensity by Visual Analogue Scale. Secondary outcomes included the number of pain medications, menstrual pain catastrophizing by Pain Catastrophizing Scale (PCS), menstrual symptoms by Menstrual Symptom Questionnaire (MSQ) and menstrual attitude by Menstrual Attitude Questionnaire (MAQ). RESULTS: Compared with the control group, CTM group showed statistically significant improvement in pain, medication use, PCS, MSQ (pâ¯=â¯0.001) and in the perception of menstruation as a natural event (pâ¯=â¯0.029). However, no significant differences were detected between groups for some aspects of MAQ (pâ¯>â¯0.05). CONCLUSIONS: CTM seems to be an effective approach in the short-term in PD.
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Dismenorreia/terapia , Manipulações Musculoesqueléticas , Feminino , Humanos , Medição da Dor , Inquéritos e Questionários , Escala Visual AnalógicaRESUMO
PURPOSE: Vanished twin (VT) has been associated with poor perinatal outcomes. Our research aimed to investigate the outcomes of pregnancies with vanished twin and its possible association with methylenetetrahydrofolate reductase (MTHFR) polymorphisms. METHODS: This study consisted of 30 of 38 VT pregnancies (group 1, VT group), 109 singletons (group 2), 70 spontaneous twins (group 3), and 101 in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) twins (group 4). RESULTS: Most patients in group 1 (28/30) were tested for MTHFR genes (C677T or A1298C polymorphisms). Eight of the 38 pregnancies with VT (21.1%) resulted in miscarriage. The prevalence of "2 or more pregnancy losses" in the "obstetric history" in group 1 was higher (23.3%) than those in the other groups (p = 0.007, χ2 = 17.8). The allelic frequencies of MTHFR 677 and MTHFR 1298 in group 1 were 0.268 and 0.429, respectively (higher than those in healthy population). The median birthweights in groups 1, 2, 3, and 4 were 2940, 3200, 2300, and 2095 g, respectively. The prevalence of respiratory distress syndrome was significantly higher in the IVF/ICSI twin pregnancy group (p < 0.001, χ2 = 21.2). Early pregnancy loss and the presence of "2 or more miscarriages" in the obstetric history of pregnancies with VT were more frequent. CONCLUSION: The coincidence of VT and MTHFR polymorphisms might play an incidental or factual role in this connection.