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Condrodisplasia Punctata , Hemorragias Intracraneales , Humanos , Femenino , Embarazo , Condrodisplasia Punctata/genética , Condrodisplasia Punctata/diagnóstico por imagen , Hemorragias Intracraneales/diagnóstico por imagen , Hemorragias Intracraneales/embriología , Hemorragias Intracraneales/etiología , Ultrasonografía Prenatal , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/genética , Recién Nacido , AdultoRESUMEN
OBJECTIVES: Agnathia-otocephaly complex is a rare condition characterized by mandibular hypoplasia or agnathia, ear anomalies (melotia/synotia) and microstomia with aglossia. This severe anomaly of the first branchial arch is most often lethal. The estimated incidence is less than 1 in 70.000 births, with etiologies linked to both genetic and teratogenic factors. Most of the cases are sporadic. To date, two genes have been described in humans to be involved in this condition: OTX2 and PRRX1. Nevertheless, the overall proportion of mutated cases is unknown and a significant number of patients remain without molecular diagnosis. Thus, the involvement of other genes than OTX2 and PRRX1 in the agnathia-otocephaly complex is not unlikely. Heterozygous mutations in Cnbp in mice are responsible for mandibular and eye defects mimicking the agnathia-otocephaly complex in humans and appear as a good candidate. Therefore, in this study, we aimed (i) to collect patients presenting with agnathia-otocephaly complex for screening CNBP, in parallel with OTX2 and PRRX1, to check its possible implication in the human phenotype and (ii) to compare our results with the literature data to estimate the proportion of mutated cases after genetic testing. MATERIALS AND METHODS: In this work, we describe 10 patients suffering from the agnathia-otocephaly complex. All of them benefited from array-CGH and Sanger sequencing of OTX2, PRRX1 and CNBP. A complete review of the literature was made using the Pubmed database to collect all the patients described with a phenotype of agnathia-otocephaly complex during the 20 last years (1998-2019) in order (i) to study etiology (genetic causes, iatrogenic causes ) and (ii), when genetic testing was performed, to study which genes were tested and by which type of technologies. RESULTS: In our 10 patients' cohort, no point mutation in the three tested genes was detected by Sanger sequencing, while array-CGH has allowed identifying a 107-kb deletion encompassing OTX2 responsible for the agnathia-otocephaly complex phenotype in 1 of them. In 4 of the 70 cases described in the literature, a toxic cause was identified and 22 out the 66 remaining cases benefited from genetic testing. Among those 22 patients, 6 were carrying mutation or deletion in the OTX2 gene and 4 in the PRRX1 gene. Thus, when compiling results from our cohort and the literature, a total of 32 patients benefited from genetic testing, with only 34% (11/32) of patients having a mutation in one of the two known genes, OTX2 or PRRX1. CONCLUSIONS: From our work and the literature review, only mutations in OTX2 and PRRX1 have been found to date in patients, explaining around one third of the etiologies after genetic testing. Thus, agnathia-otocephaly complex remains unexplained in the majority of the patients, which indicates that other factors might be involved. Although involved in first branchial arch defects, no mutation in the CNBP gene was found in this study. This suggests that mutations in CNBP might not be involved in such phenotype in humans or that, unlike in mice, a compensatory effect might exist in humans. Nevertheless, given that agnathia-otocephaly complex is a rare phenotype, more patients have to be screened for CNBP mutations before we definitively conclude about its potential implication. Therefore, this work presents the current state of knowledge on agnathia-otocephaly complex and underlines the need to expand further the understanding of the genetic bases of this disorder, which remains largely unknown. CLINICAL RELEVANCE: We made here an update and focus on the clinical and genetic aspects of agnathia-otocephaly complex as well as a more general review of craniofacial development.
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Anomalías Craneofaciales , Anomalías Maxilomandibulares , Animales , Anomalías Craneofaciales/genética , Humanos , Anomalías Maxilomandibulares/genética , Ratones , Mutación , FenotipoRESUMEN
Knowledge of the anatomy of the male pelvic floor is important to avoid damaging the pelvic floor muscles during surgery. We set out to explore the structure and innervation of the smooth muscle (SM) of the whole pelvic floor using male fetuses. We removed en-bloc the entire pelvis of three male fetuses. The specimens were serially sectioned before being stained with Masson's trichrome and hematoxylin and eosin, and immunostained for SMs, and somatic, adrenergic, sensory and nitrergic nerve fibers. Slides were digitized for three-dimensional reconstruction. We individualized a middle compartment that contains SM cells. This compartment is in close relation with the levator ani muscle (LAM), rectum, and urethra. We describe a posterior part of the middle compartment posterior to the rectal wall and an anterior part anterior to the rectal wall. The anterior part is split into (1) a centro-levator area of SM cells localized between the right and left LAM, (2) an endo-levator area that upholsters the internal aspect of the LAM, and (3) an infra-levator area below the LAM. All these areas are innervated by autonomic nerves coming from the inferior hypogastric plexus. The core and the infra-levator area receive the cavernous nerve and nerves supplying the urethra. We thus demonstrate that these muscular structures are smooth and under autonomic influence. These findings are relevant for the pelvic surgeon, and especially the urologist, during radical prostatectomy, abdominoperineal resection and intersphincteric resection. Clin. Anat., 2019. © 2019 Wiley Periodicals, Inc.
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Músculo Liso/anatomía & histología , Músculo Liso/diagnóstico por imagen , Diafragma Pélvico/anatomía & histología , Diafragma Pélvico/diagnóstico por imagen , Cadáver , Feto , Humanos , Imagenología Tridimensional , MasculinoRESUMEN
The aim of this study was to evaluate oxidative stress markers and it relations to endothelial damage as risk factor for thrombosis in patients with primary (PAPS) and secondary (SAPS) antiphospholipid syndrome (APS) in correlation to traditional risk factors. Flow-mediated (FMD) and nitroglycerine (NMD)-induced dilation of the brachial artery were studied in 140 APS patients (90 PAPS, 50 SAPS) and 40 controls matched by age, sex, and conventional risk factors for atherosclerosis. Markers of oxidative stress, lipid hydroperoxydes (LOOH), advanced oxidation protein products (AOPP), total sulfhydryl groups (tSHG), and paraoxonase 1 activity (PON1) were determined by spectrophotometric method. Oxidative stress dominates in APS patients. LOOH and AOPP correlate to lipid fractions (p < 0.05), unlike PON1, tSHG that correlated to antiphospholipid antibody positivity (p < 0.05). FMD was lower in APS patients comparing to controls (p < 0.001). Cholesterol is independent variable for FMD impairment in control group (p = 0.011); LOOH in PAPS (p = 0.004); LOOH, aCL, and triglycerides in SAPS patients (p = 0.009, p = 0.049, and p = 0.012, respectively). Combined predictive of aCL and LOOH is better for FMD impairment than LOOH alone in both PAPS and SAPS patients (AUC 0.727, p = 0.001, 95 % CI 0.616-0.837 and AUC 0.824, pË0.001, 95 % CI 0.690-0.957, respectively). Lipid peroxidation is independent predictor for endothelial dysfunction in APS patients. We demonstrated synergistic effect of aCL and LOOH as risk for endothelial impairment in both PAPS and SAPS patients.
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Síndrome Antifosfolípido/fisiopatología , Endotelio Vascular/fisiopatología , Peroxidación de Lípido/fisiología , Estrés Oxidativo/fisiología , Trombosis/etiología , Adulto , Síndrome Antifosfolípido/complicaciones , Síndrome Antifosfolípido/metabolismo , Arildialquilfosfatasa/metabolismo , Biomarcadores , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Trombosis/metabolismo , Trombosis/fisiopatologíaRESUMEN
17ß-Estradiol (E2) crucially affects several processes in the hippocampus of both sexes. E2 acts upon estradiol receptors ERα and ERß, influencing target gene expression and/or modulates intracellular signaling cascades. Another potent modulator of hippocampal function is nucleoside adenosine, the final product of ectonucleotidase cascade, enzymes which hydrolyze extracellular ATP to adenosine. The last and rate-limiting step of the hydrolysis is catalyzed by membrane-bound ecto-5'-nucleotidase (eN). Previous findings obtained on adenosine metabolism in brain suggest that eN may be modulated by ovarian steroids. Therefore, the present study reports that the activity and protein abundance of membrane-bound eN fluctuates across the estrus cycle in the hippocampal synaptosomes of female rats. Further, we analyzed the role of E2 and its intracellular receptors on the expression of eN in ovariectomized females. We found that E2 upregulated eN activity and protein abundance in the hippocampal synaptosomes. Application of nonspecific ER antagonist, ICI 182,780 and selective ERα and ERß agonists, PPT and DPN, respectively, demonstrated the involvement of both receptor subtypes in observed actions. Selective ERα receptor agonist, PPT, induced upregulation of both the protein level and activity of eN, while application of selective ERß receptor agonist, DPN, increased only the activity of eN. In both cases, E2 entered into the intracellular compartment and activated ER(s), which was demonstrated by membrane impermeable E2-BSA conjugate. Together these results imply that E2-induced effects on connectivity and functional properties of the hippocampal synapses may be in part mediated through observed effect on eN.
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5'-Nucleotidasa/metabolismo , Estradiol/farmacología , Receptor alfa de Estrógeno/metabolismo , Receptor beta de Estrógeno/metabolismo , Estrógenos/farmacología , Animales , Estradiol/análogos & derivados , Antagonistas del Receptor de Estrógeno/farmacología , Receptor alfa de Estrógeno/agonistas , Receptor alfa de Estrógeno/antagonistas & inhibidores , Receptor beta de Estrógeno/agonistas , Receptor beta de Estrógeno/antagonistas & inhibidores , Ciclo Estral/efectos de los fármacos , Ciclo Estral/fisiología , Femenino , Fulvestrant , Hipocampo/efectos de los fármacos , Hipocampo/metabolismo , Espacio Intracelular/metabolismo , Nitrilos/farmacología , Fenoles/farmacología , Pirazoles/farmacología , Distribución Aleatoria , Ratas Wistar , Sinapsis/efectos de los fármacos , Sinapsis/metabolismo , Sinaptosomas/efectos de los fármacos , Sinaptosomas/metabolismo , Regulación hacia Arriba/efectos de los fármacosRESUMEN
INTRODUCTION: This study aimed to investigate the utility of methylmalonic acid (MMA) and neutrophil Cell Population Data, available on the Beckman Coulter LH750 Analyser (Miami, FL, USA), in laboratory assessment of cobalamin status in patients at risk of cobalamin deficiency, without macrocytosis and inflammation. METHODS: The study group included 189 patients. Neutrophil Cell Population Data along with vitamin B12 and homocysteine were assessed in regard to MMA tertile groups. RESULTS: Statistically significant differences were between lower and upper MMA tertile in serum B12 (P Ë 0.001), homocysteine (P = 0.001) and neutrophil morphometric index, NeS-DW (P = 0.029). Also, serum B12 concentrations were significantly different between lower and middle MMA tertile, P = 0.005. Receiver operating characteristic analysis of NeS-DW ability to detect MMAË367 nmol/L revealed a significant area under the curve AUC = 0.761 P Ë 0.001 95% CI 0.693-0.830. Optimal cut-off value was NeS-DWË3.51% with sensitivity of 74.19% and specificity of 68.87%. CONCLUSION: In patients at risk of cobalamin deficiency and normal MCV, classification according to MMA revealed cobalamin status differences. Neutrophil morphometric index may be an indicator of early changes in neutrophil nucleus morphology caused by impaired cobalamin status.
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Núcleo Celular , Ácido Metilmalónico/química , Neutrófilos , Deficiencia de Vitamina B 12 , Anciano , Núcleo Celular/metabolismo , Núcleo Celular/patología , Homocisteína/sangre , Humanos , Persona de Mediana Edad , Neutrófilos/metabolismo , Neutrófilos/patología , Deficiencia de Vitamina B 12/sangre , Deficiencia de Vitamina B 12/diagnóstico , Deficiencia de Vitamina B 12/patologíaRESUMEN
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation identified by Sanger sequencing. The diagnosis was based on the following criteria: (i) intrauterine growth retardation and postnatal short stature, (ii) feeding difficulties and/or gastro-oesophageal reflux, (iii) microcephaly, (iv) intellectual disability, and (v) characteristic facial features. We identified 37 novel NIPBL mutations including 34 in leukocytes and 3 in buccal cells only. All mutations shown to have arisen de novo when parent blood samples were available. The present series confirms the difficulty in predicting the phenotype according to the NIPBL mutation. Until now, somatic mosaicism has been observed for 20 cases which do not seem to be consistently associated with a milder phenotype. Besides, several reports support a postzygotic event for those cases. Considering these elements, we recommend a first-line buccal cell DNA analysis in order to improve gene testing sensitivity in Cornelia de Lange syndrome and genetic counselling.
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Síndrome de Cornelia de Lange/genética , Cara/anomalías , Asimetría Facial/genética , Mutación de Línea Germinal , Mutación , Proteínas/genética , Proteínas de Ciclo Celular , Síndrome de Cornelia de Lange/diagnóstico , Asimetría Facial/diagnóstico , Facies , Femenino , Humanos , Leucocitos/metabolismo , Masculino , Mucosa Bucal/metabolismo , Fenotipo , Análisis de Secuencia de ADN/métodosRESUMEN
Cetirizine, a second-generation antihistamine, is an active metabolite of hydroxyzine used in the treatment of allergies, but the data on fetal safety are inconclusive. Pregnant women who were counselled by the 'Motherisk Program' regarding cetirizine exposure were enrolled in a cohort study and compared with pregnant women counselled for non-teratogenic exposures. The objective was to measure the rate of adverse pregnancy outcomes. Subsequently, we also conducted a meta-analysis of cohort studies that examined the pregnancy outcomes of women exposed to hydroxyzine or cetirizine during pregnancy. In the cohort study, there were no significant differences in the rates of major malformations between the cetirizine exposed and comparison group. In the meta-analysis, cetirizine was not associated with increased teratogenic risk. In contrast, a meta-analysis of cetirizine and hydroxyzine studies showed a marginal association with major malformations. Cetirizine is not associated with a clinically important increase in risk of adverse fetal outcomes.
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Anomalías Inducidas por Medicamentos/epidemiología , Cetirizina/efectos adversos , Antagonistas de los Receptores Histamínicos H1 no Sedantes/efectos adversos , Nacimiento Vivo/epidemiología , Complicaciones del Embarazo/epidemiología , Aborto Espontáneo/epidemiología , Adulto , Femenino , Humanos , Hidroxizina/efectos adversos , Embarazo , Trimestres del Embarazo , Nacimiento Prematuro/epidemiología , Mortinato/epidemiologíaRESUMEN
OBJECTIVES: The aim of this research was to describe precisely prenatal ultrasound (US) features in congenital cytomegalovirus (CMV) infection. METHODS: We retrospectively evaluated the US descriptions of cases of congenital CMV infection between 2004 and 2013. RESULTS: In 69 congenital CMV infections, related US abnormalities were reported in 30 cases (43.5%). There were both extracerebral and cerebral abnormalities in 16 cases, purely abnormal brain features in ten, and purely extracerebral features in two. About 19/30 cases presented extracerebral features of 11 different sorts of abnormalities, mainly hyperechogenic bowel (ten cases) and intrauterine growth retardation (nine cases). About 24/30 cases presented cerebral features of 13 different sorts, mainly brain calcifications (12 cases) and occipital horn cavity (11 cases). The main US findings in our series are not specific to CMV infection. However, a frequent finding attracted our attention: the anechogenic cavity located on the extremity of the occipital horn, a region which contains numerous proliferating and differentiating germinal cells. CONCLUSIONS: By improving knowledge of US findings linked to CMV infection, US sensitivity may be improved. Understanding why CMV leads to lesions of the occipital horn may help clarify the pathophysiology of congenital infection.
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Infecciones por Citomegalovirus/congénito , Infecciones por Citomegalovirus/diagnóstico por imagen , Complicaciones Infecciosas del Embarazo/diagnóstico por imagen , Ultrasonografía Prenatal , Encefalopatías/congénito , Encefalopatías/diagnóstico por imagen , Encefalopatías/epidemiología , Infecciones por Citomegalovirus/epidemiología , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/epidemiología , Edad Gestacional , Humanos , Imagen por Resonancia Magnética , Embarazo , Complicaciones Infecciosas del Embarazo/epidemiología , Resultado del Embarazo/epidemiología , Estudios RetrospectivosRESUMEN
Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains occurred de novo, ranging from 1.1 Mb to 11.5 Mb. Compared with previously reported conventional cytogenetic analyses, oligonucleotides array CGH allowed us to refine breakpoints and determine the genes of interest in the region. Involvement of SALL4 in cardiac malformations and NFATC2 gene disruption in both cardiac and skeletal anomalies are discussed.
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Anomalías Múltiples/genética , Cromosomas Humanos Par 22/genética , Duplicación de Gen , Factores de Transcripción NFATC/genética , Factores de Transcripción/genética , Preescolar , Aberraciones Cromosómicas , Hibridación Genómica Comparativa , Anomalías Craneofaciales/genética , Discapacidades del Desarrollo/genética , Femenino , Enfermedades Fetales/genética , Cardiopatías Congénitas/genética , Humanos , Hibridación Fluorescente in Situ , Cariotipo , Masculino , Adulto JovenRESUMEN
INTRODUCTION: The aim of this study was to establish the sensitivity and specificity of the microcytic anemia factor (Maf(®)), which is generated by the Coulter LH 750 analyzer in the evaluation of iron depletion and iron-deficient erythropoiesis in athletes. METHODS: A total of 142 athletes were divided into three groups: with iron depletion, with iron-deficient erythropoiesis, and controls. The following parameters were measured: RBCs (red blood cells), Hb (hemoglobin), Hct (hematocrit), MCV (mean cellular volume), MCH (mean cell hemoglobin), MCHC (mean cell hemoglobin corpuscular), RDW (red cell distribution width), Maf(®), Reticulocytes, Ferritin, sTfR (soluble transferrin receptor), Transferrin, Haptoglobin, IL- 6 (Interleukin-6), hs-CRP (high-sensitivity C-reactive protein). RESULTS: The best Maf(®) value to exclude iron depletion in athletes was 130.3, showing a sensitivity of 72.6% and a specificity of 57.3%. The AUC was 0.690 (CI 95% 0.607-0.765, P < 0.001). ROC curve analysis for Maf(®) in the diagnosis of iron-deficient erythropoiesis indicates sensitivity of 61.5%, and specificity of 93.0%, with AUC = 0.826 (CI 95% 0.754-0.885, P < 0.001) and on cutoff value 114. CONCLUSIONS: This study shows that Maf(®) generated by the Coulter LH 700 Series hematology analyzers, performs very well in discriminating healthy athletes and those with different stages of iron deficiency. Also, in cost/benefit terms, monitoring of Maf(®) is justified as a low cost, effective screening parameter for determining iron status in athletes.
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Anemia Ferropénica/diagnóstico , Atletas , Índices de Eritrocitos , Eritrocitos/metabolismo , Hemoglobinas/metabolismo , Adulto , Anemia Ferropénica/sangre , Proteína C-Reactiva/metabolismo , Recuento de Eritrocitos , Eritrocitos/patología , Eritropoyesis , Femenino , Ferritinas/sangre , Haptoglobinas/metabolismo , Hematócrito , Humanos , Interleucina-6/sangre , Hierro/sangre , Masculino , Sensibilidad y Especificidad , Transferrina/metabolismoRESUMEN
Enterovirus (EV) maternal infection during pregnancy and its relation to fetal developmental pathology are seldomly described. When reported, the main manifestations of EV congenital infections are myocarditis or intra-uterine fetal demise (IUFD). No information on intrauterine Echovirus 11 infection or the effect of transplacental Echovirus 11 infection on development of the fetus has been described in literature up to date (excluding late-pregnancy infections). We report here a case of an extreme form of pulmonary hypoplasia in a neonate, characterized by total failure of development of terminal respiratory units. This pregnancy was marked by spontaneous demise of a co-twin at 14 weeks of gestation (WG), as well as by positive PCR for EV (Echovirus 11 serotype) in the amniotic fluid, performed for moderate pericardial effusion at 22WG. No signs of cardiac disease were further observed, but at 32WG a bilateral abnormal lung development was noticed After spontaneous delivery at 38WG, the child could not be resuscitated, and died at one hour after birth. Pulmonary hypoplasia is usually described following decrease intrapulmonary pressure due to oligohydramnios or compression due to intrathoracic mass of variable cause. However, rare cases of primary pulmonary hypoplasia are also described and usually of unknown etiology. The coexistence in our case of a congenital EV infection and a severe primary pulmonary hypoplasia with congenital acinar aplasia, challenges our understanding of the pathogenesis of this severe pulmonary growth arrest.
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Anomalías Múltiples/diagnóstico , Infecciones por Echovirus/congénito , Infecciones por Echovirus/complicaciones , Enterovirus Humano B/aislamiento & purificación , Transmisión Vertical de Enfermedad Infecciosa , Enfermedades Pulmonares/diagnóstico , Pulmón/anomalías , Complicaciones Infecciosas del Embarazo/diagnóstico , Anomalías Múltiples/patología , Adulto , Infecciones por Echovirus/patología , Infecciones por Echovirus/virología , Resultado Fatal , Femenino , Humanos , Pulmón/patología , Enfermedades Pulmonares/patología , Embarazo , Complicaciones Infecciosas del Embarazo/patología , Complicaciones Infecciosas del Embarazo/virologíaRESUMEN
PDAC syndrome [Pulmonary hypoplasia/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia (A/M) and Cardiac Defect] is a condition associated with recessive mutations in the STRA6 gene in some of these patients. Recently, cases with isolated anophthalmia have been associated with STRA6 mutations. To determine the minimal findings associated with STRA6 mutations, we performed mutation analysis of the STRA6 gene in 28 cases with anophthalmia. In 7 of the cases the anophthalmia was isolated, in 14 cases it was associated with one of the major features included in PDAC and 7 had other abnormalities. Mutations were identified in two individuals: one with bilateral anophthalmia and some features included in PDAC, who was a compound heterozygote for a missense mutation and a large intragenic deletion, and the second case with all the major features of PDAC and who had a homozygous splicing mutation. This study suggests that STRA6 mutations are more likely to be identified in individuals with A/M and other abnormalities included in the PDAC spectrum, rather than in isolated A/M cases.
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Anoftalmos/genética , Proteínas de la Membrana/genética , Microftalmía/genética , Mutación , Anoftalmos/patología , Secuencia de Bases , Análisis Mutacional de ADN , Salud de la Familia , Heterocigoto , Homocigoto , Humanos , Microftalmía/patología , Datos de Secuencia Molecular , Mutación Missense , Reacción en Cadena de la Polimerasa , Sitios de Empalme de ARN/genética , Eliminación de SecuenciaRESUMEN
OBJECTIVES: (1) To study the use and diagnostic value, as a complement to ultrasound, of helical computed tomography (helical CT) to differentiate normal fetuses from cases of skeletal dysplasia; (2) to define the most relevant indications for helical CT; and (3) to evaluate its diagnostic performance with respect to radiological criteria considered discriminatory. METHODS: This was a retrospective study from 2005 to 2008 in 67 pregnant women who underwent helical CT after 26 weeks of gestation for suspected fetal skeletal dysplasia due to fetal shortened long bones on ultrasound (≤ 10(th) percentile), either alone or associated with other bone abnormalities. The results were compared with pediatric examinations in 41 cases and with fetal autopsy findings after elective termination of pregnancy in the others. RESULTS: Helical CT had a sensitivity of 82%, specificity of 91% and positive and negative predictive values of 90% and 83%, respectively, for diagnosis of fetal skeletal dysplasia. An etiological diagnosis that had not been suspected at ultrasound was specified in 15% of cases and diagnoses suspected at ultrasound were confirmed in 24% and discounted in 43% of cases. The prevalence of skeletal dysplasia was increased in cases of micromelia < 3(rd) percentile or if there was a combination of bone signs. Helical CT showed 69% sensitivity in identifying individual predefined pathological bone signs which were confirmed on fetal autopsy findings. CONCLUSION: Helical CT is a key examination, in combination with ultrasound, in the diagnosis of fetal skeletal dysplasia from 26 weeks of gestation. It should be reserved for cases with severe micromelia below the 3(rd) percentile and for those with micromelia ≤ 10(th) percentile associated with another bone sign. A checklist of discriminatory signs is proposed.
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Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Tomografía Computarizada Espiral/métodos , Femenino , Fémur/anomalías , Peroné/anomalías , Edad Gestacional , Humanos , Húmero/anomalías , Imagenología Tridimensional , Masculino , Embarazo , Diagnóstico Prenatal/métodos , Estudios Retrospectivos , Sensibilidad y Especificidad , Tibia/anomalíasRESUMEN
INTRODUCTION: The aim of our study was to evaluate derived red blood cell parameters in determining the presence of iron depletion and iron-deficient erythropoiesis, as states that precede iron deficiency anemia, in adults with congenital heart disease. METHODS: Eighty-eight adults who were diagnosed with congenital heart disease were divided into two groups (cyanotic and acyanotic). In both groups, congenital heart disease patients were then divided into three subgroups: with iron depletion, with iron-deficient erythropoiesis, and a control group. The following parameters were measured: complete blood count, reticulocytes, ferritin, soluble transferrin receptor, haptoglobin, lactate dehydrogenase, and calculated parameters: low hemoglobin density (LHD), red cell size factor (RSF), and microcytic anemia factor (MAF). RESULTS: Discriminant analysis indicated statistically significant differences in the first discriminant function: Function 1 - body iron, LHD, MAF, sTfR, and RSF (P < 0.001) in patients with acyanotic congenital heart disease and significant differences in both discriminant functions in patients with cyanotic congenital heart disease: Function 1 - body iron, soluble transferrin receptor, LHD, RSF, MAF, lactate dehydrogenase, and haptoglobin (P = 0.008) and Function 2 - reticulocytes (#), immature reticulocyte fraction and reticulocytes (%) (P = 0.049). CONCLUSIONS: Beside parameters that describe iron metabolism dynamics (body iron and soluble transferrin receptor), LHD, indicator of hypochromia, have the highest potential to differentiate and classify iron deficiency in patients with congenital heart disease.
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Eritrocitos/metabolismo , Eritropoyesis , Cardiopatías Congénitas/sangre , Hierro/sangre , Adulto , Anemia Ferropénica/sangre , Anemia Ferropénica/complicaciones , Anemia Ferropénica/diagnóstico , Recuento de Células Sanguíneas/métodos , Análisis Discriminante , Recuento de Eritrocitos/métodos , Índices de Eritrocitos , Eritrocitos/citología , Femenino , Ferritinas/sangre , Haptoglobinas/metabolismo , Cardiopatías Congénitas/complicaciones , Humanos , Deficiencias de Hierro , L-Lactato Deshidrogenasa/sangre , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Recuento de Reticulocitos/métodos , Sensibilidad y Especificidad , Transferrina/metabolismo , Adulto JovenRESUMEN
The prenatal evaluation of the postnatal prognosis of fetuses displaying congenital diaphragmatic hernia (CDH) has improved over the past five years. Although the accuracy of these outcome predictions remains a matter of debate, it seems important that all teams in charge of those fetuses use the same prognostic factors in order to be able to improve and compare their practice. Prediction will be based on Lung over Head Ratio (LHR) between 22 and 28 weeks or the LHR observed/expected whatever the gestational age, (the measurement of which relies on very strict criteria), the position of the liver and lung volumes measured by MRI. These factors allow the identification of a group of fetuses likely to have a poor outcome. In the group with LHR less than 1 or LHR o/e less than 25% and where the liver is in the thorax, survival is less than 20%. In utero treatment could be offered to these fetuses. A balloon can be placed in the trachea, under the vocal cords, by foetoscopy between 28 and 30 weeks of pregnancy. The balloon is retrieved at 34 weeks. The preliminary results show that survival in this group increases from 20% to up to 50%. The morbidity does not seem to be increased but is currently under evaluation.
Asunto(s)
Hernias Diafragmáticas Congénitas , Atención Prenatal/métodos , Oclusión con Balón , Femenino , Terapias Fetales , Fetoscopía , Edad Gestacional , Hernia Diafragmática/diagnóstico , Hernia Diafragmática/embriología , Hernia Diafragmática/mortalidad , Hernia Diafragmática/cirugía , Humanos , Imagenología Tridimensional , Recién Nacido , Hígado/diagnóstico por imagen , Hígado/embriología , Pulmón/diagnóstico por imagen , Pulmón/embriología , Imagen por Resonancia Magnética , Tamaño de los Órganos , Terapia por Inhalación de Oxígeno , Embarazo , Pronóstico , Ensayos Clínicos Controlados Aleatorios como Asunto , Tráquea/embriología , Ultrasonografía PrenatalRESUMEN
OBJECTIVE: To examine the relationship between observed to expected (o/e) lung to head circumference ratio (LHR) and lung-to-body weight ratio (LBWR) in fetuses with congenital diaphragmatic hernia (CDH). METHODS: All consecutive fetuses with CDH and termination of pregnancy for which a postmortem examination was available, examined at three institutions between 2000 and 2010, were included in the study. Contralateral fetal lung area was measured by two-dimensional ultrasonography using the longest axis method and the o/e-LHR was calculated based on the appropriate normal mean for gestational age (GA). Regression analysis was used to determine the significance of association between the LBWR and the o/e-LHR for left and right-sided cases, and subsequently the predicted LBWR in left-sided CDH was calculated using the regression equation. Regression analysis was used to investigate the effect on the proportional difference between the predicted and observed LBWR of GA at o/e-LHR, time gap between o/e-LHR and LBWR measurement, proportional weight of the ipsilateral compared with total lung weight, presence of associated anomalies and intrathoracic herniation of the liver. RESULTS: There were 23 fetuses with left-sided and seven fetuses with right-sided CDH. In left-sided CDH, the LBWR and the o/e-LHR correlated significantly, following the linear equation: LBWR = 0.0043 + (0.0134 × o/e-LHR) (r = 0.52, P = 0.012), but this was not the case for right-sided CDH, for which LBWR followed the equation: LBWR = 0.0107 - (0.0014 × o/e-LHR) (r = 0.08, P = 0.862), where o/e-LHR is expressed as percentage. Regression analysis showed that the proportional difference between predicted and observed LBWR in left-sided CDH was significantly and independently associated with GA at o/e-LHR measurement and proportional weight of ipsilateral vs. total lung weight. CONCLUSION: In left-sided CDH, o/e-LHR correlates well with LBWR irrespective of the length of time between o/e-LHR and LBWR measurement, presence of associated anomalies and intrathoracic herniation of the liver. Inconsistencies between the two measurements are mainly attributable to the contribution of the ipsilateral lung to the total lung weight. In right-sided CDH, o/e-LHR does not correlate with LBWR.