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HELLP syndrome, also known as the syndrome of hemolysis, elevated liver enzymes, and low platelets, represents a severe pregnancy complication typically associated with hypertension. It is associated with increased risks of adverse complications for both mother and fetus. HELLP occurs in 0.2-0.8% of pregnancies, and, in 70-80% of cases, it coexists with preeclampsia (PE). Both of these conditions show a familial tendency. A woman with a history of HELLP pregnancy is at high risk for developing this entity in subsequent pregnancies. We cannot nominate a single worldwide genetic cause for the increased risk of HELLP. Combinations of multiple gene variants, each with a moderate risk, with concurrent maternal and environmental factors are thought to be the etiological mechanisms. This review highlights the significant role of understanding the underlying pathophysiological mechanism of HELLP syndrome. A better knowledge of the disease's course supports early detection, an accurate diagnosis, and proper management of this life-threatening condition.
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Síndrome HELLP , Hipertensión , Preeclampsia , Complicaciones del Embarazo , Femenino , Síndrome HELLP/diagnóstico , Humanos , Hipertensión/complicaciones , Preeclampsia/diagnóstico , EmbarazoRESUMEN
OBJECTIVE: The aim of this study was to establish the diagnostic accuracy of high-field magnetic resonance imaging (MRI) at 7 Tesla (T) compared with that of stereomicroscopic autopsy for assessing first trimester fetuses. METHODS: Nine consecutive cases of first trimester fetuses resulting from spontaneous and therapeutic pregnancy termination were considered. The cases were divided into two groups according to gestational age: the Embryo Group with cases of nine to 10 gestational weeks (GWs) and the Fetus Group with cases of 13 GWs. The first group was scanned using three-dimensional fast imaging with steady state precession (3D FISP), and the second group was scanned using a two-dimensional (2D) turbo spin-echo high-resolution T2-weighted imaging (T2 WI) protocol. A radiologist and two embryologists interpreted the images. All cases were evaluated by invasive autopsy, with pathologist blinded to the imaging results. In total, the database included 270 items for evaluation (9 cases × 30 structures/case). RESULTS: The global agreement between fetal high-field virtopsy and microscopic or stereomicroscopic autopsy was evaluated using 225 evaluation items visible by both methods. Overall, using microscopic examination and stereomicroscopic autopsy as the gold standard, fetal high-field virtopsy had a sensitivity of 94.6% [95% CI, 87.2-98.3] and a specificity of 97.6% [95% CI, 95-98.8]. The positive predictive value (PPV) was 93% [95% CI, 85.7-96.6], and the negative predictive value (NPV) was 98.2% [95% CI, 95.7-99.4]. Cohen kappa coefficient of agreement was k = 0.92 [95% CI, 0.82-0.97], and the McNemar test showed p = 1.00. CONCLUSIONS: Virtual autopsy using high-field MRI at 7 T can be considered a safe alternative approach to stereomicroscopic autopsy for the assessment of fetal structural anomalies at the end of the first trimester of pregnancy.
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Feto Abortado/patología , Feto/patología , Imagen por Resonancia Magnética/métodos , Microscopía/métodos , Primer Trimestre del Embarazo , Feto Abortado/diagnóstico por imagen , Autopsia/métodos , Percepción de Profundidad , Femenino , Muerte Fetal , Feto/diagnóstico por imagen , Edad Gestacional , Humanos , Imagenología Tridimensional/métodos , Valor Predictivo de las Pruebas , Embarazo , Sensibilidad y EspecificidadRESUMEN
Recently, a series of thiazolo arene ruthenium complexes were found to be highly cytotoxic in vitro, on both cisplatin-sensitive and cisplatin-resistant ovarian cancer cells. The most active compound of the series, [(η(6)-p-cymene)Ru(L)Cl]Cl (L = 1-(2-(2-(3-chlorobenzylidene)hydrazinyl)-4-methylthiazol-5-yl)ethanone), was selected for an in vivo study in order to assess its safety profile. The ruthenium complex was administered to female Crl:WI rats orally, by gastric intubation and intraperitoneal injection. The hematological parameters and the histopathological changes in liver, kidneys, spleen and brain were investigated after a 14-days treatment. The substance was very well tolerated orally, with a LD50 value of over 2000 mg/kg body weight. Symptoms were observed only in the first day after intraperitoneal administration of the highest dose, with a LD50 value between 300 and 2000 mg/kg bw. The hematological profile was not modified at any of the tested doses, after both oral and intraperitoneal acute administration. Structural modifications (moderate lymphocytolysis) were identified only in the spleen at the highest tested dose. In conclusion, the thiazolo arene ruthenium complex was very well tolerated orally and had a low acute toxicity after intraperitoneal administration in Crl:WI rats The results justify further investigation to determine the in vivo therapeutic potential of this promising ruthenium complex.
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Antineoplásicos/toxicidad , Compuestos Organometálicos/toxicidad , Compuestos de Rutenio/toxicidad , Pruebas de Toxicidad Aguda/métodos , Administración Oral , Animales , Antineoplásicos/administración & dosificación , Biomarcadores/sangre , Peso Corporal/efectos de los fármacos , Relación Dosis-Respuesta a Droga , Femenino , Inyecciones Intraperitoneales , Dosificación Letal Mediana , Modelos Animales , Compuestos Organometálicos/administración & dosificación , Ratas Wistar , Medición de Riesgo , Compuestos de Rutenio/administración & dosificación , Bazo/efectos de los fármacos , Bazo/patología , Factores de TiempoRESUMEN
PURPOSE: E-cadherin is a transmembrane glycoprotein with important roles in the maintenance of cervical squamous epithelium integrity. The purpose of this study was to investigate the relationship between E-cadherin-160 C/A polymorphism and cervical intraepithelial neoplasia (CIN). METHODS: A case-control study was performed enrolling 70 CIN cases and 107 age-matched healthy controls. Each patient was examined colposcopically, having a cervical specimen. All patients and controls have been genotyped for E-cadherin-160. Data were analysed using odds ratios (OR) and chi-square test at a significance level of p<0.005. RESULTS: The presence of E-cadherin-160 C/A was significantly associated with high-grade squamous intraepithelial lesion (HSIL) (OR=2.7916, 95% CI 1.1495,6.9345, x2=6.33, p=0.0118) and carcinoma in situ (CIS) (OR=2.5617, 95% CI 1.1676,5.6705, x2=6.63, p=0.0100). The detection of either CA or AA genotype was also significantly associated with HSIL and CIS. CONCLUSION: E-cadherin-160 genotype represents a valid risk factor for HSIL and CIS.
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Biomarcadores de Tumor/genética , Cadherinas/genética , Polimorfismo Genético , Lesiones Intraepiteliales Escamosas de Cuello Uterino/genética , Displasia del Cuello del Útero/genética , Neoplasias del Cuello Uterino/genética , Adulto , Antígenos CD , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Colposcopía , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Heterocigoto , Homocigoto , Humanos , Persona de Mediana Edad , Oportunidad Relativa , Fenotipo , Regiones Promotoras Genéticas , Factores de Riesgo , Rumanía , Lesiones Intraepiteliales Escamosas de Cuello Uterino/patología , Neoplasias del Cuello Uterino/patología , Displasia del Cuello del Útero/patologíaRESUMEN
Placental development is a complex process which sets the stage for normal fetal development. Any variation/disruption occurring during the initial stages of placental formation leads to placental malfunction causing increased maternal-fetal morbidity and mortality. The succenturiate lobe is a structural variation of the placenta that usually appears as a distinct lobe from the main placental mass. Succenturiate lobe is a rare placental anomaly, with high risk of fetal distress, hemorrhage, abruptio placentae and even fetal death because the vessels of this succenturiate lobe are vulnerable to both compression and laceration. Prenatal imaging diagnosis of this pathology improves the fetal prognosis through more careful surveillance and, in case of complications such as abruptio placentae, by shortening the time-to-decision making in favor of cesarean delivery. We present the case of a 27-year-old patient, without risk factors for placental abnormalities, diagnosed antenatally with succenturiate placenta, who presented at 34 weeks of pregnancy for abruptio placentae.
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It is rare to detect echogenic content in the fetal gallbladder. The etiology, natural course, and prognosis of this condition remain unclear. In addition to providing a systematic review of this topic, we suggest a plan for patient follow-up. From a total of 100 database entries identified in PubMed, EMBASE, and ICTRP reviews, we selected 34 studies in which we investigated the ultrasound features and outcome of this condition. There were 226 fetuses with gallbladder echogenic content identified. Seventy-two fetuses were found to have biliary sludge; thirty cases had a single hyperechogenic focus, and one hundred fetuses had multiple foci in the gallbladder. There were 16 cases of distal shadowing, 37 fetuses with comet tail and twinkling, and 26 cases with no acoustic artifacts. Nine cases of spontaneous resolution before birth have been documented; nine fetuses exhibited no echogenic content at birth, and 138 cases of resolution of echogenic content within the first year of life have been described. Typically, the condition resolves spontaneously during the postnatal period. After adequately reassuring the parents, the patients should be monitored for spontaneous resolution; medical or surgical intervention is not indicated. Asymptomatic patients can be managed with a wait-and-see strategy.
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Neonatal hemochromatosis (NH) is an uncommon, severe disorder that results in fetal loss or neonatal death due to liver failure. NH is currently regarded as the phenotypic expression of gestational alloimmune liver disease (GALD). The diagnosis of NH-GALD is rarely prenatally established. In addition to providing a systematic review of the prenatal features that are identifiable using ultrasound (US) and MRI, we suggest a prenatal diagnosis algorithm for use in suspected NH during the first affected pregnancy. From a total of 586 database entries identified in PubMed, Google Scholar, and ResearchGate, we selected 18 studies published from 1993 to 2021 that reported maternal medical and obstetric history, prenatal ultrasound findings, and postpartum outcomes. We investigated the ultrasound and MRI features of these studies, along with the outcome due to this condition. A total of 74 cases were identified. The main reported prenatal US finding was fetal growth restriction (FGR) (33%), followed by oligohydramnios (13%) and hydrops fetalis (13%), with 13% cases described as uneventful. Other rare prenatal findings were fetal anemia, ascites, and abnormal fetal liver and spleen. Most pregnancies ended with fetal/perinatal death or therapeutic interruption of pregnancy. Favorable evolution with treatment (ensanguine transfusion and intravenous immunoglobulin (IVIG)) was reported for only 7% of fetuses. Using T2-weighted MRI, fetal extrahepatic siderosis confirmed prenatally in two cases and postnatally in 11 cases. IVIG treatment throughout subsequent pregnancies was found to significantly improve fetal prognosis. MRI should be indicated in selected cases of oligohydramnios, fetal hydrops, fetal hepatomegaly, ascites, or unexplained FGR or anemia after ruling out all other more frequently encountered conditions. MRI can be used to detect iron overload in the liver and extrahepatic siderosis.
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Introduction: This research aims to describe a progressive pattern of ultrasound placental remodeling in patients with a history of SARS-CoV-2 infection during pregnancy. Materials and Methods: This was a longitudinal, cohort study which enrolled 23 pregnant women with a history of former mild SARS-CoV-2 infection during the current pregnancy. Four obstetricians analyzed placental ultrasound images from different gestational ages following COVID infection and identified the presence and degree of remodeling. We assessed the inter-rater agreement and the interclass correlation coefficients. Pathology workup included placental biometry, macroscopic and microscopic examination. Results: Serial ultrasound evaluation of the placental morphology revealed a progressive pattern of placental remodeling starting from 30-32 weeks of gestation towards term, occurring approximately 8-10 weeks after the SARS-CoV-2 infection. Placental changes-the "starry sky" appearance and the "white line" along the basal plate-were identified in all cases. Most placentas presented normal subchorionic perivillous fibrin depositions and focal stem villi perivillous fibrin deposits. Focal calcifications were described in only 13% of the cases. Conclusions: We identified two ultrasound signs of placental remodeling as potential markers of placental viral shedding following mild SARS-CoV-2. The most likely pathology correspondence for the imaging aspect is perivillous and, respectively, massive subchorionic fibrin deposits identified in most cases.
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Endometrial polyps (EPs) are a frequent gynecological condition. EPs often arise in the common womanly patients and are appraised to be about 25%. Advancing age, hyperestrogenism, hypertension, and Tamoxifen use are acknowledged as ordinary risk elements for the development of EP. The etiopathogenesis of EP is not accurately elucidated, but certain considerations such as diabetes mellitus, hormonal factors or arterial hypertension are considered to perform a significant contribution. The diagnosis of EPs is essentially by imaging. Transvaginal ultrasound is the primary investigation in EPs. Hysteroscopic resection is now the "gold standard" to treat to treat this disease. Hysterectomy is the definitive treatment for EPs, but it requires a judicious indication and an adequate counseling of the patient. Currently, a certain histological pattern is found in different sequences in EPs. Even if the vast majority EPs are benign, they may reach hyperplastic, with malignant alteration. The purpose of this pictorial review is the integrated approach to this type of abnormal endometrial proliferation from the perspective of natural history, diagnosis, management, morphological aspects, risk of malignancy, recurrence and last but not least, clinical outcome.
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Neoplasias Endometriales , Hipertensión , Pólipos , Neoplasias Uterinas , Humanos , Embarazo , Femenino , Histeroscopía/métodos , Pólipos/patología , Neoplasias Uterinas/patología , Histerectomía , Hipertensión/patología , Neoplasias Endometriales/patología , Endometrio/patologíaRESUMEN
Surgical site infections (SSIs) are a complication in any surgical field and they are responsible for 38% of surgery-related patient deaths. Identifying appropriate prophylaxis and solutions to combat SSIs is of global interest. Several studies and reports on SSI raise awareness of this costly complication, both in terms of physical and mental suffering, and as a monetary burden. Knowing the risk factors and implementing strategies to reduce SSI risk represent an adequate approach to reduce SSI incidence. General risk factors of SSI are applicable in the obstetrics and gynecology field, alongside its specific characteristics, including immunological changes occurring during pregnancy, as well as disturbances of vaginal microbiota. The risk of SSI is determined by patient factors but also by preoperative, intraoperative and postoperative care. 'Bundle' prevention strategies have been smartly adopted and their efficiency has been demonstrated in colorectal surgery, cesarean deliveries and gynecological oncology surgeries. 'Bundle' measures may vary among studies, but they remain important prevention methods, which contribute to decreasing SSIs, which is a favorable outcome, and thus, are increasingly used as a routine practice. Therefore, healthcare personnel should aim for the early identification of risk factors to minimize the risk of SSI. All evidence-based methods for preventing and treating SSIs in all surgical fields should be considered to be integral components in order for the best care to be provided to patients.
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The physiological process of scarring is a common denominator of interest in a plethora of medical specialties. The molecular basis whereby this process results in pathological scarring for some individuals is poorly understood at present, with clues pointing towards individual predisposition for pathological scarring. Vitamin D and its subsequent pathway plays a key role in skin metabolism and homeostasis, with alterations in the level of vitamin D receptor (VDR) seen within pathological scars. The present study investigated the role of the rs2228570 polymorphism of VDR with regards to scar formation and evolution in a group of 71 female patients recovering from Caesarian section. Blood samples were taken at the time of surgery, and the follow-up was collected remotely at 3 and 6 months after surgery. The rs2228570 polymorphism was investigated using an RFLP-PCR protocol. The results demonstrated that the CC genotype, in combination with the Patient Observer Scar Assessment Scale (POSAS) and SCAR scores are associated with pathological scarring, with more studies being necessary to draw a firm conclusion.
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Background: Infertility is an important health concern worldwide. Although lifestyle habits and behaviors have been widely reported as predictors of IVF outcomes by previous studies, they have not been reported for Romanian women undergoing IVF. In this regard, our pilot study aimed to begin to address the data gap by assessing lifestyle predictors of in vitro fertilization (IVF) outcomes in Romanian women. Study design: Our pilot study included 35 participants who completed a first IVF cycle at a single infertility center. We evaluated individual self-reported lifestyle habits and behaviors as predictors of IVF outcomes, and employed principal component analysis (PCA) to characterize multiple lifestyle habits and behaviors into personal care product (PCP) use, and healthy diet and physical activity patterns as predictors of IVF outcomes. Results: Our PCA analysis showed that greater use of PCPs was associated with lower probabilities of pregnancy (RR: 0.92, 95% CI [0.87-0.98]) and live birth (RR: 0.94, 95% CI [0.88-1.01]) while, the healthy dietary habits and physical activity were associated with a higher likelihood of pregnancy, although without statistical significance (RR: 1.10, 95% CI [0.93-1.30]). Conclusions: In this pilot study we identified associations between IVF outcomes among Romanian women and certain lifestyle habits and behaviors including stress, diet and physical activity, and certain PCP use. We also estimated the joint effects of multiple lifestyle factors using PCA and found that PCP use, healthy dietary habits and physical activity were associated with IVF outcomes.
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Fertilización In Vitro , Infertilidad , Embarazo , Humanos , Femenino , Proyectos Piloto , Rumanía/epidemiología , Estilo de VidaRESUMEN
Hypertrophic and atrophic scars are the effect of a dysregulated wound-healing process in genetically predisposed individuals. The genetic predisposition has acquired significant attention due to the diverse phenotype of pathological scarring in individuals with a positive personal and family history. Recent studies have identified telomere shortening and decreased hTERT activity in pathological scarring, proposing the rs2736100 variant of human telomerase reverse transcriptase (hTERT) gene as a valuable variant gene candidate. We examined the scarring process in 71 female patients who had undergone Caesarean section and developed hypertrophic and atrophic scars with the objective to investigate the role of single nucleotide polymorphism (SNP) rs2736100 in pathological scarring. Genotyping was performed using RT-PCR and follow-up included the Patient Observer Scar Assessment Scale (POSAS) and SCAR scales. Comparative analysis for mean POSAS value between the check-ups at 3 and 6 months revealed a statistical decreased difference of 1.71 points [95% confidence interval (CI), 0.4-2.89; P=0.01], while SCAR highlighted a decreased difference of 0.670 (95% CI, -0.04-1.38; P=0.055). The C variant allele revealed a borderline statistical value for the risk of developing pathological scarring (OR=1.44; 95% CI, 0.876-1.332: P=0.066). In our study a pre-conceptional body mass index (BMI) >25 kg/m2 was statistically associated with pathological scarring. The Fitzpatrick type 4 phototype displayed an increased frequency for the heterozygous genotype in the current study, and it was demonstrated that dark skin tone was associated with abnormal scar formation. Our study investigated the role of hTERT gene variant rs2736100 in hypertrophic and atrophic scarring in a Caucasian population group. We report a borderline statistically significant value for the variant C allele of hTERT SNP for the risk of developing pathological scarring in female patients that had undergone Caesarean section.
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OBJECTIVE: To determine the diagnostic value of virtual autopsy using post mortem-MRI (pm-MRI) at 3Tesla (T) compared to classic autopsy for the confirmation of fetal structural anomalies and secondly to establish which cases of termination of pregnancy would benefit mostly from a virtual autopsy. METHODS: In each of 32 fetuses included in the study, 32 anatomical structures were assessed, after termination of pregnancy in the second trimester. All cases were evaluated by prenatal ultrasonography, virtual autopsy and classic autopsy, and then divided into four groups: Cerebral Group, Cardiac Group, Renal Group and Other Group (miscellaneous group). The concordance of virtual autopsy with classic autopsy was calculated overall and for each group and each structural item. Also, the concordance between the two methods was assessed using a diagnostic error score (DgE_score), calculated as the absolute value of the difference between the number of malformations detected by classic autopsy per case (CA score) and the number of malformations detected at virtual autopsy per case (VA score). RESULTS: Overall virtual autopsy demonstrated a diagnostic sensitivity (Se) compared to classic autopsy of 67.33% [95% CI 57.28-76.33], with a specificity (Sp) of 98.37% [95% CI 97.33-99.09], a positive predictive value (PPV) of 81.93% [95% CI 71.95-89.52], a negative predictive value (NPV) of 96.49% [95% CI 95.11-97.57] achieving a diagnostic accuracy of 95.31% [95% CI 93.83-96.52]. Overall, no statistic significant correlation was demonstrated between DgE_score and the gestational age of the fetuses or between DgE_score and the weight of the fetuses, but a significant correlation was revealed between the virtual autopsy and classic autopsy score. The diagnostic utility of virtual autopsy using pm-MRI at 3 T as compared to classic autopsy for each category of termination of pregnancy revealed in the Cerebral Group a Se of 80.00% [95% CI 28.36-99.49], with a 96.30% [95% CI 81.03-99.91], a PPV of 80.00% [95% CI 35.75-96.64] a NPV of 96.30% [95% CI 81.81-99.34], with a diagnostic accuracy of 93.75% [95% CI 79.19% to 99.23] and a Cohen's Kappa coefficient of 0.76 [95% CI 0.4494-1.0765]; in the Renal Group a Se and Sp of 100%, but in the Cardiac Group the Se was only 60.00% [95% CI 26.24-87.84], Sp 75% [95% CI 34.91-96.81], the PPV 75.00% [95% CI 44.92-91.69], NPV 60% [95% CI 38.87-77.96], with a diagnostic accuracy of 66.67% [95% CI 40.99-86.66] and a Cohen's Kappa coefficient of 0.32 [95% CI -0.07-0.76]. CONCLUSIONS: The results support virtual autopsy using pm-MRI at 3T as a reliable alternative to classic autopsy for the non-forensic analysis of second trimester fetuses. Analyzing the diagnostic utility of virtual autopsy using pm-MRI at 3 T for the confirmation of prenatal ultrasound findings in second trimester fetuses as compared to classic autopsy, the best results were obtained in the Cerebral and Renal Group. Reserved results were found in the Cardiac Group. Therefore, for the pregnancies with termination of pregnancy for cerebral or renal abnormalities, virtual autopsy by pm-MRI at 3T can be taken into consideration as a first-line investigation to confirm the prenatal findings.
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Feto/anomalías , Feto/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Autopsia/métodos , Femenino , Humanos , Estudios Longitudinales , Embarazo , Segundo Trimestre del Embarazo , Estudios Prospectivos , Ultrasonografía PrenatalRESUMEN
The present study provides our clinical experience regarding the imaging diagnosis, management and postnatal outcome of neonates prenatally suspected of having developed ovarian cysts. This multicenter observational study included patients diagnosed prenatally with fetal ovarian cysts and follow-up in the postnatal period. Descriptive statistics were used to render the information regarding the prenatal imaging aspect of the fetal pelvic masses using ultrasound and/or MRI, prenatal surveillance and postnatal neonate's immediate outcome, indications leading to surgery and pathologic aspect. The inclusion criteria were fulfilled by 21 patients. The mean gestational age at the time of initial diagnosis was 31.28 weeks of gestation (WG). Only five out of 21 cysts regressed completely during pregnancy without postnatal complications. In addition, 11 out of 21 infant's required surgical treatment in the first two weeks after birth, mainly for ovarian torsion. Five out of 21 neonates were referred to postnatal follow-up clinically and by ultrasound, but three out of five cases required emergency surgical treatment for acute complications. Ultrasound plays a major role in the diagnostic of fetal ovarian cyst. From our experience, MRI does not bring supplementary data or change the management. Spontaneous resolution of fetal ovarian cysts is to be expected but the ovarian mass could lead to serious complications, if resolution does not occur in due time.
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Dysregulation in the cutaneous wound-healing process is a consequence of alterations in the efficiency and activity of the various components involved in the healing process. This dysregulation may result in various clinical appearances of a lesion, such as skin ulcers, keloids, hypertrophic and atrophic scars. The collagen type V alpha 2 (COL5A2) gene provides a template for a component of type V collagen, found primarily within the skin basement membrane. Transforming growth factor (TGF)-ß is involved in inflammation, angiogenesis, proliferation of fibroblasts, collagen synthesis and extracellular matrix remodeling. Hypertrophic scar fibroblasts possess a disrupted expression pattern of the TGF-ß signaling compared to normal healing, while an increased TGF-ß signaling reduces the epidermal proliferation rate, triggering atrophic scarring. In the present study, 71 female patients who had undergone planned Caesarean section, without postoperative complications, were examined. These patients were clinically and molecularly evaluated after developing scars in order to determine the role of TGF-ß1 (rs201700967 and rs200230083) and COL5A2 (rs369072636) in pathological scarring. Clinical scar evaluation was carried out using SCAR and POSAS scales and genotyping was performed by RT-PCR. No statistical differences were found between the subgroups regarding the genotype and the pathological scarring, since all the patients included were wild-type allele carriers. Further investigations and a more representative study group may highlight the involvement of COL5A2 and TGF-ß1 single nucleotide variants in pathological scarring.
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Twin-to-twin transfusion syndrome (TTTS) is the consequence of vascular anastomoses of the shared placenta of monochorionic twin pregnancies. Both circulating inter-twin blood flow and vasoactive mediators imbalance cause hypovolemia in the donor and hypervolemia in the recipient fetus. If left untreated, TTTS has a high perinatal mortality rate and adverse long-term outcomes mainly cardiovascular and neurological. The recipient has cardiovascular changes including atrioventricular valve regurgitation, diastolic dysfunction and pulmonary stenosis/atresia. The maladaptive response to vascular changes determines a constant decreased blood flow in the donor that permanently modifies the arterial structure leading to postnatal alterations in the vascular system. Fetoscopic LASER surgery of placental vascular anastomoses may disrupt the underlying pathophysiology and improves cardiovascular function with normalization of systolic and diastolic function within weeks after treatment. The impact of cardiovascular changes is relevant for the safety of the management of a TTTS case. The improvement of the perinatal survival after intrauterine surgery leads to viable infants with the longer-term sequelae. Therefore accurate quantification of cardiovascular involvement is essential for clinicians for pregnancy management but also for patient counseling about the potential treatment options the outcome.
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Classically fetal heart evaluation is mandatory in the second trimester of pregnancy. Recent data suggest that the diagnosis of congenital heart disease is feasible in the first trimester (FT) of pregnancy, especially for trained examiners. In this pictorial essay we aim to illustrate in detail the particularity of the FT heart evaluation: the specific ultrasound techniques including practical tips for the basic and extended first trimester fetal heart evaluation protocol. The diagnosis is possible by the use of a variety of ultrasound techniques (B mode, CFM, Bidirectional Doppler, STIC, TUI) using the transabdominal/transvaginal probes. An abnormal FT heart scan requires second trimester reassessment. Unfortunately, not all cardiac disease can be potentially diagnosed in the first trimester. Based on their own experience the authors recommend that heart examination in the FT should be attempted in all fetuses, even in low risk pregnancies, using at least the basic Doppler examination protocol.
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Uterine leiomyomas are common benign uterine tumors but by contrast, their acute complications are very rare. We present an unusual case of 38-year-old woman that came to the emergency department with acute abdominal pain. The ultrasound revealed hemoperitoneum, a uterus with two intramural fibroids and a tender inhomogeneous pelvic mass that seems to connect with the uterus. Computer tomographic (CT) examination raised the suspicion of a degenerated fibroid and hemoperitoneum. Emergency laparotomy was performed: the hemoperitoneum was determined by a degenerated fundal subserosalfibroid. Myomectomy was subsequently carried out. Even though this condition is extremely rare, every clinician has to bear in mind that acute fibroid complications can be a potential cause of acute abdominal pain that requires immediate surgery. The imagistic tools, ultrasound and CT are extremely helpful for the diagnosis.Due to its relative rarity in the second part of the article we have performed a review of the existing literature regarding the acute complications of fibroid torsion.
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Hemoperitoneo/etiología , Leiomioma/complicaciones , Anomalía Torsional/complicaciones , Neoplasias Uterinas/complicaciones , Adulto , Femenino , Hemoperitoneo/diagnóstico por imagen , Hemoperitoneo/cirugía , Humanos , Leiomioma/diagnóstico por imagen , Leiomioma/cirugía , Tomografía Computarizada por Rayos X , Anomalía Torsional/diagnóstico por imagen , Anomalía Torsional/cirugía , Neoplasias Uterinas/diagnóstico por imagen , Neoplasias Uterinas/cirugía , Útero/diagnóstico por imagen , Útero/cirugíaRESUMEN
PURPOSE: To assess the influence of reproductive factors in the occurrence of breast cancer in women, taking into account the presence/absence of genetic predisposing mutations. METHODS: 100 patients with breast cancer were included. The genetic testing was conducted through a multigene panel. Reproductive characteristics were noted for all patients: age of menarche, age of the patient at first full term pregnancy, number of pregnancies, number of full-term pregnancies, breastfeeding interval, number of abortions, and menopausal status at the time of diagnosis. The patients were divided into three groups according to their mutations: BRCA1, positive for mutations other than BRCA1 and negative. RESULTS: The risk of breast cancer was not influenced by the number of abortions, parity, age at first pregnancy, age at menarche and menopausal status, or by oral contraceptive use in carriers of pathogenic mutations group in the BRCA1 group. The present study has demonstrated the protective effect of breastfeeding only in patients without genetic risk (p=0.0344). In contrast, breastfeeding did not influence breast cancer occurrence in BRCA1 mutation carriers' group (p=0.2321). CONCLUSIONS: Breastfeeding represents a protective mechanism only in patients without genetic breast cancer predisposing mutations. Environmental and reproductive factors can impact the risk and the age of onset of breast cancer in patients carrying pathogenic mutations, but the mechanisms of action are not fully understood.