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1.
J Stomatol Oral Maxillofac Surg ; 119(3): 216-219, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29274401

ABSTRACT

INTRODUCTION: Aggressive paediatric myofibromatosis is an autosomal recessive disease characterized by fibroblastic proliferation from cells originated in muscle-aponeurotic tissue. Its etiology is unknown, and the average age of the reported cases is 7 years old. The tumor exhibits rapid painless growth and appears attached to muscle tissue and/or bone. The treatment of choice is conservative surgical excision despite of early relapses has been reported. OBSERVATION: A 2-year-old patient, with no morbid history, presented with a large swelling in the left submandibular region, firm, neither defined limits nor inflammatory characteristics. Its size doubled 2 months after an incisional biopsy. CT images showed great compromise of the left mandibular body with expanded and thinned cortical bone. The MRI showed extension towards the pharynx. Histopathological findings were elongated fibroblastic and ovoid cells arranged in bundles and fascicles within fibromyxoid stroma, an image consistent with the diagnosis. The treatment consisted in a conservative exeresis of the tumor, preserving the jaw. Control 1 year after surgical removal shows no signs of relapse and the mandibular structure has been restored. DISCUSSION: The large size of the lesion and bone involvement at such an early age evidenced a very aggressive lesion, however, supported by a previous biopsy, we performed a conservative treatment, which only caused the loss of a dental germ, impossible to take off from the intraosseous tumor. The control of this type of lesions requires a longer follow-up.


Subject(s)
Myofibromatosis , Biopsy , Child , Child, Preschool , Humans , Magnetic Resonance Imaging , Mandible , Neoplasm Recurrence, Local
3.
Mol Hum Reprod ; 17(12): 739-46, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21775412

ABSTRACT

DAX-1 [dosage-sensitive sex reversal-adrenal hypoplasia congenital (AHC) critical region on the X chromosome gene 1; NR0B1] is an orphan nuclear receptor that acts as a transcriptional repressor in adrenal/gonadal development, steroidogenesis and probably spermatogenesis. An alternatively spliced form called DAX-1A (NR0B1A) has been described in several tissues including the testis, and in vitro studies have shown an inhibitory effect on DAX-1 transcriptional function. We aimed to study the mRNA and protein expression of DAX-1 in testicular tissues of 65 men with primary spermatogenic failure [complete Sertoli cell only syndrome (SCOS), focal SCOS, maturation arrest and mixed atrophy] compared with 33 controls with normal spermatogenesis. As a novel finding, we observed intense immunostaining, not only in the nucleus of Sertoli cells, but also in pachytene spermatocytes and round spermatids. The quantitative mRNA expression of DAX-1 and DAX-1A was similar between cases and controls and was not associated with the levels of gonadotrophins and steroids. Moreover, DAX-I transcript expression level was ∼750-fold higher than DAX-1A, and there was a strong positive correlation between them (r = 0.52; P< 0.001). We conclude that, in addition to Sertoli cells, DAX-1/DAX-1A is expressed in germ cells from spermatogonia to round spermatids. Besides, the similar mRNA expression of DAX-I and DAX-IA in testicular tissues from cases and controls does not support the involvement of DAX-1 in the etiology of primary spermatogenic failure. Finally, the low level of expression of the alternative transcriptional variant DAX-1A would not support its putative inhibitory function in vivo.


Subject(s)
DAX-1 Orphan Nuclear Receptor/metabolism , Gene Expression , Protein Isoforms/metabolism , Reproduction/genetics , Sertoli Cell-Only Syndrome/genetics , Sertoli Cells/metabolism , Spermatogenesis , Adult , Alternative Splicing , Case-Control Studies , Chile , DAX-1 Orphan Nuclear Receptor/genetics , Gonadotropins/biosynthesis , Humans , Immunohistochemistry , Male , Protein Isoforms/genetics , RNA, Messenger/analysis , Real-Time Polymerase Chain Reaction , Sertoli Cells/pathology , Spermatids/cytology , Spermatids/metabolism , Spermatocytes/cytology , Spermatocytes/metabolism , Spermatogonia/cytology , Spermatogonia/metabolism , Steroids/biosynthesis
4.
Horm Res Paediatr ; 73(5): 320-7, 2010.
Article in English | MEDLINE | ID: mdl-20389101

ABSTRACT

In humans, a direct relationship between IGF-I cord blood levels and birth weight has been demonstrated. To determine the placental IGF-I, IGF-II and IGF-IR mRNA and protein contents in full-term pregnancies from appropriate for gestational age (AGA), small for gestational age (SGA) and large for gestational age (LGA) newborns, we studied the placentas from 35 AGA, 30 SGA and 28 LGA pregnancies. The IGF-I, IGF-II and IGF-I receptor (IGF-IR) placental mRNA and protein contents were determined in the basal and chorionic plates of the placenta. IGF1 and IGF1R mRNA was higher in SGA compared to AGA and LGA placentas and lower in LGA compared with AGA placentas. In addition, a higher protein content of IGF-I and IGF-IR was observed in SGA compared with AGA and LGA placentas and lower contents in LGA compared with AGA placentas. These results suggest that the higher IGF-I and IGF-IR contents observed in SGA placentas and the lower contents observed in LGA placentas compared with AGA placentas may be influencing human fetal growth.


Subject(s)
Infant, Small for Gestational Age/blood , Insulin-Like Growth Factor I/biosynthesis , Placenta/metabolism , Receptor, IGF Type 1/biosynthesis , Birth Weight , Female , Humans , Infant, Newborn , Insulin-Like Growth Factor II/biosynthesis , Pregnancy , RNA, Messenger/metabolism
5.
Eur J Endocrinol ; 161(3): 419-25, 2009 Sep.
Article in English | MEDLINE | ID: mdl-19542242

ABSTRACT

BACKGROUND: Fetal exposure to maternal glucocorticoids may determine fetal growth and the programing of later disorders. Availability of the glucocorticoids in the placenta is regulated by the 11beta-hydroxysteroid dehydrogenase (11beta-HSDs) enzymes. To date, there are discrepancies with regard to cortisol (F) cord blood levels in fetuses with intrauterine growth retardation in different species. Objective To study the expression and activity of 11beta-HSDs in placentas from full term small for gestational age (SGA), appropriate for gestational age (AGA) and large for gestational age (LGA) newborns, and cortisol cord blood concentration. METHODS: Twenty-five placentas from AGA, 24 SGA and 25 LGA were collected. RESULTS: SGA newborns had significantly lower and LGA newborns had significantly higher birth weight, birth length, head circumference, and placental weight than AGA counterparts. We observed a direct correlation between placental weight and birth weight, birth length and head circumference, and higher cord F levels in SGA newborns. The 11beta-HSD1 expression was similar among the SGA, AGA, and LGA placentas. However, within the placentas of SGA newborns, the 11beta-HSD1 mRNA levels were significantly reduced in the chorionic plate compared with basal plate. An inverse correlation between cord F levels and activity of 11beta-HSD1 in the chorionic plate of the SGA placentas was detected. The 11beta-HSD2 activity was seven- to eightfold higher compared with 11beta-HSD1 in the placentas, and there was a lower 11beta-HSD2 activity in females' SGA placentas compared with the male SGA placentas. CONCLUSION: We observed a lower expression and activity of 11beta-HSD1 in the chorionic plate of the SGA placentas, suggesting a possible compensatory mechanism to diminish the higher cortisol fetal concentrations observed in fetuses with intrauterine growth restriction.


Subject(s)
11-beta-Hydroxysteroid Dehydrogenase Type 1/genetics , 11-beta-Hydroxysteroid Dehydrogenase Type 2/genetics , Birth Weight/genetics , Placenta/metabolism , Pregnancy Trimester, Third/genetics , Term Birth/genetics , 11-beta-Hydroxysteroid Dehydrogenase Type 1/metabolism , 11-beta-Hydroxysteroid Dehydrogenase Type 2/metabolism , Chorion/enzymology , Chorion/metabolism , Female , Fetal Growth Retardation/enzymology , Fetal Growth Retardation/genetics , Fetal Growth Retardation/metabolism , Gene Expression Regulation, Enzymologic , Gestational Age , Humans , Infant, Newborn , Infant, Small for Gestational Age/metabolism , Male , Pregnancy , Pregnancy Trimester, Third/metabolism , Sex Factors , Term Birth/metabolism
6.
J Matern Fetal Neonatal Med ; 12(1): 35-41, 2002 Jul.
Article in English | MEDLINE | ID: mdl-12422907

ABSTRACT

OBJECTIVE: To determine whether antibiotic administration in patients with preterm premature rupture of membranes is associated with a reduction in the rate of histological chorioamnionitis and funisitis. METHODS: One hundred consecutive patients with preterm premature rupture of membranes and no labor between 24 and 34 weeks were invited to participate in this study. Eligible patients randomly received either clindamycin-gentamicin for 7 days or placebo, and were managed expectantly until 35 weeks unless fetal or maternal indications developed. Microbial invasion of the amniotic cavity was defined as the presence of a positive amniotic fluid culture obtained by transabdominal amniocentesis. Cervicovaginal infection was diagnosed when bacterial vaginosis or a positive culture for cervicovaginal pathogens or facultative bacteria associated with a significant increase in the white blood cell count were found. Histological chorioamnionitis was based on the observation of polymorphonuclear leukocyte infiltration of the chorionic plate or the extraplacental fetal membranes. Funisitis was diagnosed in the presence of polymorphonuclear leukocyte infiltration into the umbilical vessel walls or Wharton jelly. Statistics were performed using contingency tables. RESULTS: Seventy-one patients with available histological study of the placenta were included. Thirty-five women received antibiotics and 36 were given placebo. Patients who received antibiotics had a significantly lower rate of histological chorioamnionitis than patients who received placebo (46% (16/35) vs. 69% (25/36), respectively; p < 0.05). This effect was more pronounced among women with microbial invasion of the amniotic cavity and/or cervicovaginal infection (58% vs. 89%, respectively; p < 0.01). Antibiotic therapy was associated with an increase in the frequency of placentas without histological abnormalities (29% vs. 6%; p < 0.01). The frequency of funisitis was not different between groups. CONCLUSION: Administration of antibiotics in patients with preterm premature rupture of membranes is associated with a significant reduction in the incidence of histological chorioamnionitis but it does not modify the frequency of funisitis.


Subject(s)
Antibiotic Prophylaxis , Chorioamnionitis/prevention & control , Clindamycin/administration & dosage , Fetal Membranes, Premature Rupture , Gentamicins/administration & dosage , Adolescent , Adult , Chorioamnionitis/microbiology , Drug Therapy, Combination , Female , Humans , Pregnancy , Pregnancy Outcome , Treatment Outcome , Vagina/microbiology
7.
Dig Liver Dis ; 33(9): 750-4, 2001 Dec.
Article in English | MEDLINE | ID: mdl-11838609

ABSTRACT

BACKGROUND: Sucrose permeability has been used as a marker to detect gastric lesions in children. As CagA status of Helicobacter pylori is an important factor in determining the evolution of the gastric lesion, CagA-positive strains being more frequently associated with severe mucosal lesions, the aim of this study was to determine the prevalence of CagA-positive strains in Helicobacter pylori-colonized children and to evaluate whether the sucrose permeability test might discriminate between colonization by CagA-positive or negative strains. PATIENTS AND METHODS: A series of 38 children (11.1+/-3.6 years) who required upper endoscopy for diagnostic purposes were included in the study. Endoscopy was carried out after the sucrose permeability test, and gastric biopsies were obtained for histologic examination, Helicobacter pylori detection by Giemsa staining and CLO-test, and determination of CagA status of the colonizing Helicobacter pylori strains by polymerase chain reaction. RESULTS: Helicobacter pylori was detected in 26 subjects (68.4%) and of these, 16 (61.5%) were colonized by CagA-positive strains. The intensity of the histologic findings was significantly associated with the presence of Helicobacter pylori and with CagA status of the infecting strains (chi2=21.2, p=0.0017). However no significant difference in the urinary excretion of sucrose between children not colonized and children with CagA- negative or positive strains was observed (0.027% [0.012-0.035%]; 0.027% [0.016-0.047%] and 0.026% [0.016-0.038], median [range], respectively; Kruskal-Wallis analysis of variance F=0.75, p=0.69). CONCLUSIONS: These results indicate that in Chile, about 60% of the Helicobacter pylori infected children are colonized by CagA-positive strains, in association with more intense lesions of the gastric mucosa, but that gastric permeability to sucrose does not discriminate between colonization by CagA-negative and positive strains of Helicobacter pylori.


Subject(s)
Antigens, Bacterial , Gastric Mucosa/metabolism , Gastrointestinal Diseases/metabolism , Helicobacter Infections/metabolism , Helicobacter pylori , Abdominal Pain/metabolism , Abdominal Pain/microbiology , Adolescent , Bacterial Proteins , Child , Child, Preschool , Endoscopy, Gastrointestinal , Female , Gastrointestinal Diseases/diagnosis , Gastrointestinal Diseases/microbiology , Helicobacter Infections/diagnosis , Helicobacter pylori/physiology , Humans , Male , Permeability , Sucrose/urine
8.
Rev Med Chil ; 126(8): 930-42, 1998 Aug.
Article in Spanish | MEDLINE | ID: mdl-9830745

ABSTRACT

BACKGROUND: There is a close relationship between premature membrane rupture, bacterial infections and premature labor. AIM: To study placental histological changes in patients with preterm membrane rupture. To establish a relationship between pathological findings, amniotic fluid and lower genital tract microbiological studies, maternal and neonatal outcome. PATIENTS AND METHODS: Patients with premature membrane rupture of membranes between 24 and 34 weeks of gestation participated in this study. On admission, patients had no evidence of clinical chorioamnionitis, labor or fetal distress. Microbiological studies of the amniotic fluid and cervicovaginal secretions were performed and the placenta was sent for pathological study. RESULTS: Seventy one placentas were available for the study. The main pathological findings were acute chorioamnionitis in 58%, trophoblastic proliferation in 38%, funisitis in 37%, villitis in 16%, fetal vascular lesions in 14% and no findings in 17%. Microbial invasion of amniotic cavity was present in 89% of acute chorioamnionitis. Sixty one percent of trophoblastic proliferation and all fetal vascular lesions were associated with negative amniotic and cervical cultures. Newborns with acute funisitis had a higher frequency of neonatal death (29%), severe asphyxia (42%) and neonatal infections (29%). CONCLUSIONS: Acute chorioamnionitis is the most frequent finding in patients with preterm membrane rupture and microbial invasion of amniotic cavity. In the absence of intra amniotic infection, proliferation of the trophoblast and the presence of fetal vascular lesions predominate. Acute funisitis is strongly associated with adverse fetal outcome.


Subject(s)
Amniotic Fluid/microbiology , Fetal Membranes, Premature Rupture/microbiology , Placenta/microbiology , Pregnancy Complications, Infectious , Bacteria/isolation & purification , Biomarkers , Cervix Uteri/microbiology , Cervix Uteri/pathology , Chorioamnionitis/microbiology , Chorioamnionitis/pathology , Female , Fetal Membranes, Premature Rupture/pathology , Humans , Infant, Newborn , Infant, Premature , Placenta/pathology , Pregnancy
9.
Rev Med Chil ; 126(2): 139-43, 1998 Feb.
Article in Spanish | MEDLINE | ID: mdl-9659747

ABSTRACT

BACKGROUND: Helicobacter pylori produces a gastric mucosal inflammation characterized by neutrophil infiltration, due to the liberation of interleukin-8. AIM: To measure interleukin-8 levels in gastric mucosa samples from children colonized by H. pylori. PATIENTS AND METHODS: Thirty one children that required an upper gastrointestinal endoscopy for diagnostic purpose were studied. Antral biopsies were obtained for pathological study, H. pylori detection using CLO-test and interleukin-8 determination by ELISA. RESULTS: Nine children were not infected with H. pylori. Of these, six had a pathologically normal gastric mucosa and three had a mild chronic gastritis. Twenty two children were infected by H. pylori and all had a chronic gastritis with activity signs in 13. Mucosal interleukin-8 was higher in infected than in non infected children (59.7 (range 6.1-379.7) and 15.8 (range 3.9-104.1) pg/mg respectively p = 0.029). Colonized children with an active chronic gastritis had higher interleukin-8 levels than those with inactive gastritis (84.4 (range 33.3-379.0) and 26.8 (range 6.1-372.6) pg/ml respectively p = 0.04). CONCLUSIONS: Stomach colonization by H. pylori is associated with higher mucosal levels of interleukin-8. This phenomenon probably plays a role in the genesis and intensity of gastric mucosal inflammation in children.


Subject(s)
Gastric Mucosa/chemistry , Gastritis/metabolism , Helicobacter Infections/metabolism , Helicobacter pylori , Interleukin-8/analysis , Adolescent , Biopsy , Child , Child, Preschool , Chronic Disease , Female , Gastric Mucosa/metabolism , Humans , Male
10.
J Pediatr Gastroenterol Nutr ; 24(5): 506-11, 1997 May.
Article in English | MEDLINE | ID: mdl-9161942

ABSTRACT

BACKGROUND: Increased permeability to sucrose has been recently shown to be a good marker of gastric mucosal damage in adults. METHODS: This test was evaluated in 40 children consulting for recurrent abdominal pain and the results were correlated with endoscopic and histologic findings and with the presence of H. pylori. RESULTS: The gastric mucosa was considered endoscopically normal in 31 children; 3 had duodenitis and 6 had mild gastritis. Abnormal endoscopic findings were associated with increased urinary sucrose excretion (MANOVA F = 7.30; p = 0.002). In the 6 children with mild gastritis, mean sucrose excretion was twice that of controls (0.060 +/- 0.024 vs. 0.029 +/- 0.018, respectively; p = 0.019) and significantly higher than the group with duodenitis (0.037 +/- 0.013; p = 0.038). The specificity and sensitivity of sucrose permeability test for detection of gastric damage were 90.3% and 83.3%, respectively. H. pylori was detected in 62.5% of children including all patients with mild gastritis, in 2 out of 3 with duodenitis and 17 out of 31 endoscopically normal controls. No differences in sucrose excretion were observed in relation with the presence of H. pylori or histological findings in the control group. CONCLUSIONS: Urinary sucrose excretion is a good marker of mucosal gastric damage in children and may be used as a screening test in large groups of populations.


Subject(s)
Gastric Mucosa/metabolism , Gastrointestinal Diseases/metabolism , Helicobacter Infections/metabolism , Helicobacter pylori , Sucrose/urine , Abdominal Pain/etiology , Adolescent , Child , Cohort Studies , Endoscopy, Gastrointestinal , Female , Gastrointestinal Diseases/microbiology , Humans , Male , Multivariate Analysis , Permeability , ROC Curve , Recurrence , Sucrose/metabolism
12.
Rev Chil Obstet Ginecol ; 59(6): 448-55; discussion 455-6, 1994.
Article in Spanish | MEDLINE | ID: mdl-7569165

ABSTRACT

A retrospective study of all perinatal autopsies done during 11 years at hospital SBA showed 33 cases of nonimmunologic fetal hydrops (1.83% of all perinatal autopsies). The incidence was 1/3624 liveborn babies. Intrauterine fetal infections and chromosome genetic abnormalities accounted for 27.3% each; and in 15.2% of the cases some pathology of pregnancy was identified (including twining). All the cases showed severe anemia and in 58% of them pulmonary hypoplasia was identified. Moreover 31% of the cases showed renal hypoplasia. A placenta megaly was identified in 100% of the cases studied. The three most important mechanisms associate with the genesis of nonimmune fetal hydrops are: chronic intrauterine anemia, hypoproteinemia and intrauterine fetal heart failure.


Subject(s)
Hydrops Fetalis , Adolescent , Adult , Chromosome Aberrations , Chromosome Disorders , Female , Humans , Hydrops Fetalis/etiology , Hydrops Fetalis/pathology , Male , Pregnancy , Retrospective Studies , Rh Isoimmunization/complications
13.
Rev Chil Pediatr ; 62(2): 124-7, 1991.
Article in Spanish | MEDLINE | ID: mdl-1668884

ABSTRACT

The case of a patient with a cystic partially differentiated nephroblastoma (CPDN) is reported. Careful histological study is essential to distinguish CPDN and other types of multicystic kidneys (specially cystic nephroma or multilocular cyst of the kidney). Because of the rare potential for aggressive behavior of this tumor, nephrectomy alone is the therapy of choice. However, its relationship with Wilm's tumor is an indication for a regular clinical follow up.


Subject(s)
Kidney Neoplasms/pathology , Wilms Tumor/pathology , Follow-Up Studies , Humans , Infant , Kidney Neoplasms/diagnostic imaging , Kidney Neoplasms/therapy , Male , Prognosis , Ultrasonography , Wilms Tumor/diagnostic imaging , Wilms Tumor/therapy
14.
Rev Chil Obstet Ginecol ; 56(1): 27-34, 1991.
Article in Spanish | MEDLINE | ID: mdl-1844596

ABSTRACT

An evaluation of 1500 perinatal autopsies is presented and the findings of umbilical cord anomalies are related to fetal malformations. The most frequent pathologies of the umbilical cord were one umbilical artery and stenosis of the cord. The author highlights the importance of a thorough examination of the umbilical cord and of the placenta.


Subject(s)
Fetal Death/etiology , Fetal Diseases/etiology , Fetus/abnormalities , Umbilical Cord/abnormalities , Autopsy , Chile , Female , Fetal Death/pathology , Fetal Diseases/pathology , Humans , Infant Mortality , Infant, Newborn , Placenta/abnormalities , Placenta/pathology , Pregnancy , Umbilical Cord/pathology
17.
Rev. chil. pediatr ; 55(1): 42-5, 1984.
Article in Spanish | LILACS | ID: lil-20279

ABSTRACT

Se presenta el caso de un nino de 12 anos, de sexo masculino portador de un carcinoma nasofaringeo. Clinicamente el tumor se manifesto como una adenopatia cervical asociada a ptosis palpebral, atrofia parcial de la lengua y paralisis de las cuerdas vocales, todos en el lado correspondiente a al masa cervical. El paciente recibio tratamiento con quimio y radioterapia, observandose una respuesta inicial favorable, con remision de los sintomas y una posterior recaida con metastasis cerebrales que provocaron su muerte. Se destaca la importancia de considerar a este tipo de tumores en el diagnostico diferencial de masas cervicales benignas y malignas.Dentro de este ultimo grupo se enfatiza el diagnostico diferencial con el grupo de linfomas, por ser su pronostico y tratamiento diferentes


Subject(s)
Child , Humans , Male , Nasopharyngeal Neoplasms , Drug Administration Schedule
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