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1.
Rev Esp Enferm Dig ; 115(6): 346, 2023 06.
Article in English | MEDLINE | ID: mdl-37232169

ABSTRACT

A 68-year-old woman with stage IV pancreatic adenocarcinoma (liver and lymph node metastases) on first-line treatment with gemcitabine. As a non-oncological comorbidity, the patient was anticoagulated with enoxaparin 8000 IU/24 hours because she had a mitral valve prosthesis. The patient made a medical consultation for presenting vomits which looked like coffee grounds and melaena. In the complete blood count, a hemoglobin of 7.5 g/dL was detected. Transfusion support, pantoprazole infusion (80 mg in 500 cc of 0.9% SSF every 12 hours) and parenteral nutrition were prescribed. Tranexamic was not prescribed due to the patient's cardiological history.


Subject(s)
Adenocarcinoma , Pancreatic Neoplasms , Female , Humans , Aged , Pancreatic Neoplasms/complications , Adenocarcinoma/complications , Duodenum , Hemorrhage , Pancreatic Neoplasms
3.
Genet Test Mol Biomarkers ; 26(4): 220-227, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35394812

ABSTRACT

Background: Fragment analysis of exon 1 of the human androgen receptor, known as HUMARA, is a polymerase chain reaction (PCR)-based method for detecting X-linked agammaglobulinemia (XLA) carriers. This method takes advantage of X-chromosome inactivation (XCI) in female cells. XLA is caused by mutations in the Bruton tyrosine kinase (BTK) gene, located in Xq22.1. In this study, XCI is nonrandom or skewed in B-cells. B-cells with an active X-chromosome carrying a BTK mutation do not mature. Peripheral B-cells in XLA carriers inactivate the mutated X-chromosome. Methods: HUMARA was performed using DNA from purified B-cells and total leukocytes. DNA was digested using methylation-sensitive HhaI. The PCR of the HUMARA polymorphic marker was performed with the HhaI digested samples. The lengths of the PCR products were determined. If a suspected carrier showed skewed XCI in their B-cells, the marker length that corresponded with the length determined in the index patient indicated their carrier status. Results: HUMARA was conducted on purified B-cells; this allowed easier identification of the mutated or inactive allele, as the active allele was enzymatically digested. Analysis of 30 possible carriers using modified HUMARA corroborated that the carrier status in all samples that were heterozygous for the marker using XCI calculation for leukocytes showed a Gaussian distribution, while the carrier B-cell DNA showed a skewed XCI. Conclusion: Carrier status was successfully determined for most of the analyzed samples. B-cell enrichment resulted in precise carrier determination data, reduced the sample size, and facilitated inactive and active allele identification.


Subject(s)
Agammaglobulinemia , Genetic Diseases, X-Linked , Agammaglobulinemia/diagnosis , Agammaglobulinemia/genetics , Female , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/genetics , Heterozygote , Humans , X Chromosome Inactivation/genetics
4.
Fetal Diagn Ther ; 48(3): 201-208, 2021.
Article in English | MEDLINE | ID: mdl-33657569

ABSTRACT

INTRODUCTION: We aim to evaluate the supplementary predictive value of soft tissue markers, including fetal limb volumes, for fetal birth weight and fat tissue weight. METHODS: This is a prospective study of 60 patients undergoing term induction of labor. Ultrasound was performed 48 h before birth, and 2D sonographic measurements, subcutaneous tissue thickness, and 3D fetal limb volumes were taken. Birth weight and neonatal fat weight were assessed by plethysmography. Clinical data were collected. The relation between ultrasound and neonatal outcomes was assessed by univariate and multivariate predictive models. The estimated and actual birth weights were compared applying different published formulas, and systematic and random error were collected and compared. RESULTS: 3D fetal limb volumes showed a strong relation to birth weight, absolute weight, and relative fat weight. The Lee 6 formula performed better than either Hadlock 3 or Lee 3 with the lowest random error. Fractional limb volumes involve a highly reproducible technique, with excellent correlation (intra-class coefficient >0.90) for both inter- and intra-observer reliability. The prevalence of estimated EFW measures within 10% error from the actual birth weight was 71.7% with the Hadlock 3 model and 95.0% with the Lee 6 model (p = 0.09). CONCLUSION: Late assessment of 3D fetal limb volume in upper and lower extremities is not only useful for accurately predicting birth weight but is a useful marker for prediction of birth fat tissue weight.


Subject(s)
Adiposity , Ultrasonography, Prenatal , Biometry , Birth Weight , Female , Fetal Weight , Humans , Imaging, Three-Dimensional , Infant, Newborn , Predictive Value of Tests , Pregnancy , Prospective Studies , Reproducibility of Results
5.
J Ultrasound Med ; 36(5): 999-1007, 2017 May.
Article in English | MEDLINE | ID: mdl-28150324

ABSTRACT

OBJECTIVES: To relate measurements and volume of the fetal adrenal gland in third trimester ultrasound in diabetic pregnancies (1) to birth weight; (2) to other sonographic markers of diabetic fetopathy (expected fetal weight, sectional area, and fractional volume in fetal limbs); and (3) to maternal biochemical markers of diabetes (HbA1c, leptin). METHODS: Fetal adrenal gland measurements were obtained between 32 and 34 weeks. The gland length, width, depth, and volume (by Virtual Organ Computer-Aided Analysis [VOCAL]) were measured for total gland and fetal zone. Fetal total and fat sectional area and fractional volume were obtained in arm and thigh. A maternal blood sample was obtained. Univariate and multivariate models were used to assess the associations. RESULTS: Thirty-nine diabetic pregnancies were included. Birth weight related significantly to total and fetal zone adrenal depth, and total adrenal volume in third trimester. Total adrenal length and corrected adrenal gland volume also showed a significant correlation to birth weight percentile in univariate and multivariate models. Total adrenal volume associated significantly to total and fat areas and volumes in fetal limbs. Both maternal leptin and HbA1c levels found a significant positive relation to fetal total adrenal volume and corrected adrenal gland volume. Total adrenal gland volume showed a significant association to maternal HbA1c level in multivariate model. CONCLUSIONS: An enlargement of the fetal adrenal gland may be observed in gestational diabetes, not only related to birth weight, but also to distinctive features of diabetic pregnancies, such as fat tissue fetal deposits or maternal biochemical markers.


Subject(s)
Adrenal Glands/diagnostic imaging , Adrenal Glands/pathology , Birth Weight , Diabetes, Gestational/physiopathology , Fetal Development/physiology , Ultrasonography, Prenatal/methods , Adrenal Glands/embryology , Adult , Female , Humans , Infant, Newborn , Organ Size , Pregnancy , Prospective Studies
8.
Gynecol Endocrinol ; 32(7): 548-52, 2016 Jul.
Article in English | MEDLINE | ID: mdl-26829514

ABSTRACT

OBJECTIVE: The objective was to determine the value of clinical and analytical maternal factors to predict birth weight and umbilical cord biochemical markers of diabetic fetopathy. METHODS: Prospective evaluation of gestational diabetes pregnancies (n = 50). Maternal weight-related clinical and analytical factors were collected during pregnancy. After birth, an umbilical cord sample was taken. RESULTS: Univariate linear regression analysis showed relationship between maternal weight, glycated hemoglobin (HbA1c) and insulin-like growth factor 1 (IGF1) with birth weight percentile. A significant association was found between maternal weight and cord insulin and C-peptide. Maternal HbA1c, leptin and insulin during pregnancy showed a positive linear association to cord leptin, insulin and C-peptide. In multivariate analysis models, final maternal BMI showed an independent positive association with cord C-peptide. CONCLUSIONS: Maternal weight-related and analytical parameters show diagnostic value to birth weight and cord markers.


Subject(s)
Birth Weight/physiology , Body Weight/physiology , Diabetes, Gestational/blood , Fetal Blood/metabolism , Fetal Diseases/blood , Adult , C-Peptide/blood , Female , Glycated Hemoglobin/metabolism , Humans , Infant, Newborn , Insulin/blood , Insulin-Like Growth Factor I/metabolism , Leptin/blood , Pregnancy
9.
Prenat Diagn ; 35(12): 1187-96, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26256264

ABSTRACT

OBJECTIVE: To evaluate the value of third trimester ultrasound (estimated fetal weight, cheek-to-cheek diameter, sectional Wharton's jelly area, sectional areas and fractional volumes in extremities) to predict birth weight and cord biochemical markers at birth (leptin, insulin, c-peptide, IGF1, erythropoietin and ferritin) in diabetic pregnancies. METHOD: Prospective study in 49 patients with gestational diabetes. An ultrasound was performed between 32 and 34 weeks. Clinical data were collected, and a blood sample was obtained from cord after birth. ROC curve models were evaluated for 75(th) and 90(th) birth weight percentile. Univariate and multivariate models were used to assess the association between ultrasound and neonatal outcomes. RESULTS: Sectional areas and fractional volumes showed significant differences and highest AUC values for predicting birth weight. A significant association was found for extremities measurements with total birth weight and its percentile. The only marker which showed a significant association to estimated fetal weight was erythropoietin. Sectional areas and fractional volumes related to cord leptin, erythropoietin, insulin and c-peptide. CONCLUSION: Sectional areas and fractional volumes improve the predictive value of estimated fetal weight in diabetic pregnancies. They also show a predictive association to biochemical changes in cord (leptin, insulin and erythropoietin) related to increased adiposity and risk of fetal hypoxia. © 2015 John Wiley & Sons, Ltd.


Subject(s)
Birth Weight , Body Fat Distribution/methods , Diabetes, Gestational/diagnostic imaging , Ultrasonography, Prenatal/methods , Adult , C-Peptide/blood , Erythropoietin/blood , Female , Fetal Blood/chemistry , Humans , Insulin/blood , Leptin/blood , Pregnancy , Prospective Studies
10.
Gynecol Obstet Invest ; 79(4): 222-8, 2015.
Article in English | MEDLINE | ID: mdl-25720981

ABSTRACT

AIMS: To evaluate the correlation between perinatal outcome and bile acid levels in intrahepatic cholestasis of pregnancy (ICP), and to evaluate variations in the mean bile acid level when stratifying by maternal and perinatal factors. A comparison between mild and severe ICP was made. METHODS: A prospective observational study was performed in pregnant patients who underwent blood tests for bile acids due to persistent pruritus. Based on bile acid levels, maternal and neonatal data were obtained and were compared between patients presenting with ICP and gestational pruritus (normal bile acid level). RESULTS: A total of 145 patients were included, 47 of whom were diagnosed as ICP (52 newborns) and 98 as gestational pruritus (102 newborns). The ICP group had a higher rate of NICU admission (14/42 vs. 6/98, p < 0.001) and global neonatal morbidity (13/42 vs. 9/98, p = 0.002), but these differences were no longer seen after adjusting for gestational age, singleton pregnancies and induction of labour. Patients presenting with severe ICP (maximum bile acids levels above 40 µmol/l) showed a higher rate of meconium-stained amniotic fluid (0/28 vs. 4/14, p = 0.009), NICU admission (9/34 vs. 11/17, p = 0.01) and neonatal global morbidity (5/32 vs. 8/17, p = 0.02). CONCLUSIONS: ICP patients have higher rates of adverse neonatal outcomes when compared to those with gestational pruritus. Some of this neonatal morbidity may be secondary to late spontaneous preterm deliveries, multiple gestation and a policy of elective induction of labour after 37 weeks of gestation. A comparison of outcomes among patients with mild and severe ICP shows that the severely affected group has higher rates of meconium-stained amniotic fluid and neonatal morbidity.


Subject(s)
Bile Acids and Salts/blood , Cholestasis, Intrahepatic/blood , Infant, Newborn, Diseases/etiology , Pregnancy Complications/blood , Pregnancy Outcome , Pruritus/blood , Adult , Cholestasis, Intrahepatic/complications , Female , Humans , Infant, Newborn , Male , Pregnancy , Prognosis , Severity of Illness Index
11.
Eur Radiol ; 23(9): 2636-42, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23604800

ABSTRACT

OBJECTIVES: To analyse the diagnostic accuracy and to establish a predictive score based on diffusion-weighted magnetic resonance imaging (DWMRI) compared to exploratory laparotomy (EL) for predicting suboptimal cytoreductive surgery for different intra-abdominal sites of implants in patients with ovarian cancer. METHODS: Thirty-four patients with advanced ovarian carcinoma were studied. Preoperative DWMRI of the abdomen and pelvis was performed. DWMRI findings were compared with EL. Ten anatomical sites were selected for inclusion in the score. Sensitivity, specificity, positive predictive value, negative predictive value and accuracy for suboptimal cytoreduction were calculated for both DWMRI and EL. Receiver operating characteristic (ROC) curve analysis was used to assess the ability to predict suboptimal cytoreduction. RESULTS: Using predictive score, ROC curves were generated with an area under the curve of 0.938 for DWMRI and 0.947 for EL (P < 0.0001). For DWMRI, a score ≥6 had the highest overall accuracy at 91.1 % and identified patients with unnecessary EL with a sensitivity of 75 %. For EL, a score ≥4 had the highest overall accuracy at 88.2 % and was able to identify patients with unnecessary EL with a sensitivity of 87.5 %. CONCLUSIONS: DWMRI is an emerging technique that may be useful to predict suboptimal cytoreduction in ovarian cancer. KEY POINTS: • DWMRI is increasingly used in ovarian cancer. • DWMRI is an accurate technique for depicting intra-abdominal sites of implants • DWMRI is useful for predicting optimal cytoreductive surgical outcome. • We report a high predictive value similar to exploratory laparotomy.


Subject(s)
Brachytherapy/methods , Carcinoma/pathology , Carcinoma/radiotherapy , Diffusion Magnetic Resonance Imaging/methods , Ovarian Neoplasms/pathology , Ovarian Neoplasms/radiotherapy , Abdomen/pathology , Adult , Aged , Carcinoma/surgery , Female , Humans , Laparotomy , Middle Aged , Ovarian Neoplasms/surgery , Predictive Value of Tests , ROC Curve , Reference Values , Reproducibility of Results , Sensitivity and Specificity , Treatment Outcome
12.
J Matern Fetal Neonatal Med ; 26(15): 1517-23, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23544961

ABSTRACT

OBJECTIVE: To compare the diagnostic conclusions between fetal neurosonography and MRI in the cases of congenital neurological abnormalities, and with postnatal clinical and imaging evaluation, when available. METHODS: A retrospective study of 28 patients who underwent a fetal MRI study for suspected congenital neurological anomalies. The diagnoses obtained by neurosonography and MRI were collected and compared. Both of them were compared with the final diagnosis when available by necropsy or postnatal evaluation. Postnatal imaging tests were performed only when clinically indicated. RESULTS: The indications for the fetal MRI examination were: fetal ventriculomegaly, posterior fossa anomalies, suspected midline defects, small-for-gestational-age cephalic biometry and confirmed congenital CMV infection. There was a good degree of agreement beyond chance between both techniques (kappa test = 0.76). CONCLUSIONS: Both imaging modalities give a high-diagnostic performance with a good degree of agreement between them, when made by specialized staff. Fetal MRI is a valuable complementary tool to detailed neurosonography which allows an evaluation of the normal brain maturation from the second trimester. It also offers a higher diagnostic performance for some congenital abnormalities such as cortical development or acquired lesions.


Subject(s)
Magnetic Resonance Imaging , Nervous System Malformations/diagnosis , Nervous System Malformations/embryology , Prenatal Diagnosis/methods , Ultrasonography, Prenatal , Cytomegalovirus Infections/congenital , Cytomegalovirus Infections/pathology , Female , Humans , Nervous System Malformations/diagnostic imaging , Pregnancy , Prognosis , Retrospective Studies
13.
Eur J Obstet Gynecol Reprod Biol ; 154(1): 24-6, 2011 Jan.
Article in English | MEDLINE | ID: mdl-20800336

ABSTRACT

OBJECTIVE: To make a global evaluation of the fetal myocardial changes in a well-controlled gestational diabetic population. STUDY DESIGN: Twenty-four pregnant well-controlled diabetic patients were selected. Sixteen normal pregnancies were randomly collected as a control group. Measurements of morphological and functional myocardial parameters were performed. Data from the left ventricular outflow tract and peripheral Doppler data were obtained. RESULT: The thickness of the interventricular septum was increased in diabetic pregnancies (p < 0.001). Tricuspid E/A index was the only functional parameter showing a significant variation, with lower values in diabetic pregnancies. Doppler parameters from the left ventricular outflow tract and peripheral Doppler waveforms were similar between groups. CONCLUSION: A tendency towards interventricular septum hypertrophy was observed even in well-controlled diabetic pregnancies. Mild hypertrophic cardiac changes were not associated with abnormal cardiac function or signs of left ventricular outflow obstruction, although minor changes in right ventricular diastolic function were recorded.


Subject(s)
Diabetes, Gestational/physiopathology , Fetal Heart/pathology , Fetal Heart/physiopathology , Cardiomyopathy, Hypertrophic/pathology , Cardiomyopathy, Hypertrophic/physiopathology , Case-Control Studies , Diabetes, Gestational/therapy , Echocardiography, Doppler , Female , Fetal Diseases/pathology , Fetal Diseases/physiopathology , Humans , Pregnancy , Prospective Studies , Ventricular Function, Left
14.
Toxicol Ind Health ; 26(8): 451-7, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20504820

ABSTRACT

The morphological consequences of chronic exposition to low doses of cadmium (Cd) in the Leydig cells population were investigated in 40 sexually mature male mice at morphological and ultrastructural levels. Animals were orally exposed to cadmium (0.015 g/L of CdCl(2) in drinking water) for 3, 6, 12 and 18 months and then sacrificed, samples were collected for toxicological, light and electron microscope studies. Vascular lesions were evident from 6 months of Cd exposure, the severity of the morphological changes observed in the testicular vases were highly and clearly correlated to the time of exposure to Cd. The severity of the Leydig cells morphological changes were increasing along the time of exposure. Presence of cytoplasm vacuolization and degenerative images of the cells were frequent after 12 months of Cd exposure. Also two Leydig cells tumours after 12 and 18 months Cd exposure were presented. These results indicate that prolonged exposures to low doses of Cd are able to induce morphological damage on the Leydig cells.


Subject(s)
Cadmium/toxicity , Carcinogens/toxicity , Leydig Cell Tumor/pathology , Leydig Cells/drug effects , Precancerous Conditions/pathology , Testicular Neoplasms/pathology , Animals , Carcinogenicity Tests , Dose-Response Relationship, Drug , Leydig Cell Tumor/ultrastructure , Leydig Cells/pathology , Leydig Cells/ultrastructure , Male , Mice , Precancerous Conditions/ultrastructure , Testicular Neoplasms/ultrastructure
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