Biomedical subjects
Publications and source records attributed to E Ruchelli.
Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral blood karyotype should have chromosome analysis performed on fibroblasts or bone marrow.
The diagnosis and management of a neonate with a genetic disorder, inherited, chromosomal, teratogenic, and developmental abnormalities, of the kidneys and urinary tract requires a team approach and many sources of information--prenatal history and fetal ultrasonography, detailed family history, clinical examination and imaging studies of baby and parents, evaluation of laboratory studies, and interpretation of pathology.
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This study was designed to evaluate the significance of gastric lymphoid follicles (LF) and aggregates (LA) in children with and without Helicobacter pylori (HP) infection. All 605 antrum biopsies performed during 1994 were reviewed and classified according to the presence or absence of inflammation, LF, or LA. HP was searched with a DiffQuik stain in all biopsies showing gastritis, LF, or LA. Gastritis was diagnosed in 80 biopsies (16 with LF, 18 with LA and 46 without LA or LF). Identification of HP in these biopsies was as follows: (a) cases with LF: 12/16; (b) cases with LA: 3/18; (c) cases without LF or LA: 8/46. The biopsies without gastritis had a higher frequency of LA (65/525) than of LF (2/525). HP was not identified in any case without gastritis. The presence of LF with histologic gastritis had the strongest correlation with HP (R = 0.5, p < 0.00001). LF with gastritis had a positive predictive value of 75% for HP and the absence of LF had a negative predictive value of 82.8% (sensitivity 52%; specificity 92%). LA with gastritis had no significant correlation with HP. From these results we conclude that lymphoid follicles should be distinguished from lymphoid aggregates. Lymphoid follicles can rarely be present in an otherwise normal gastric mucosa; however, they are more frequently found in cases of gastritis and are strongly associated with HP infection. Lymphoid aggregates are not significantly associated with HP infection and may be a component of the normal gastric lymphoid tissue.
Pediatric patients who present with symptoms of gastroesophageal reflux and severe eosinophilic esophagitis may be unresponsive to aggressive anti-reflux medical therapy. In order to determine whether the degree of eosinophilia predicts anti-reflux treatment response and possibly distinguishes different etiologies, we reviewed the initial biopsies of patients with esophageal eosinophilia and compared the number of eosinophils with the response to anti-reflux treatment. Over a 1-year period, 102 patients with a biopsy demonstrating at least 1 intraepithelial eosinophil were identified among patients undergoing initial endoscopy for symptoms of reflux. All patients were treated with H2 blockers and prokinetic agents. Treatment response was classified into three categories: improvement, relapse, and failure. There were significant differences between the group who improved (mean eosinophil count [MEC] 1.1 +/- 0.3 SEM) and those who failed (24.5 +/- 6.1 SEM, P < 0.0025) or relapsed 6.4 +/- 2.4 SEM, P < 0.05). A threshold MEC value of > or = 7 provided a sensitivity of 61.3%, a specificity of 95.7%, and a predictive value for treatment failure of 86.1. A MEC value of < 7 provided an 85% predictive value of successful therapy. From these data we made the following conclusions: (1) The number of eosinophils has a predictive value of treatment response with > or = 7 per high power field offering a valuable clinical threshold for predicting outcome of conventional therapy. (2) The variable response to conventional reflux treatment may reflect different etiologies. (3) Alternate medical treatment modalities may be appropriate in the presence of severe eosinophilia, before considering surgical intervention.
Villous oedema was observed in 259 placentae among 1925 consecutive singleton pregnancies of greater than 19 weeks gestation. It was present in 11 per cent of term placentae in which significant associations with fetal and neonatal death (P less than 0.03), and absence of maternal cigarette smoking (P less than 0.002) were found. In preterm placentae, the oedema was usually more severe, and its prevalence increased from 20 per cent for 33-37 weeks to 40 per cent for less than 33 weeks. Our analysis showed that for a given gestational age, villous oedema was not significantly related to chorioamnionistis, Apgar scores of less than 7 at 1 and 5 min, or neonatal death, an exception was for 33-37 weeks gestation, in the absence of chorioamnionitis, villous oedema was associated with low 1 min Apgar score. Immature intermediate villi are present in premature placentae as a normal developmental stage and in dysmature placentae as a result of villous maldevelopment. Since villous oedema closely resembles the 'stromal channels' in this villous type and shows significant association with prematurity and villous dysmaturity, we postulate that villous oedema is a lesion primarily of the immature intermediate villi. Both fetal and maternal factors are involved in its pathogenesis.
BACKGROUND: Reduction amniocentesis is used in cases of severe polyhydramnios to decrease maternal discomfort and the risk of preterm labor. In a MEDLINE search (1966 to present, English language, keywords: amniocentesis, chorioamnionitis), no report of Candida chorioamnionitis after serial reduction amniocentesis exists. CASE: A 29-year-old primigravida with a history of four therapeutic amniocenteses for idiopathic polyhydramnios developed preterm labor at 30 and 5/7 weeks' gestation, rupture of membranes, and Candida albicans chorioamnionitis. Despite aggressive therapy with amphotericin B, the neonate succumbed to overwhelming systemic candidiasis. CONCLUSION: Serial amniocentesis may place patients at elevated risk for Candida chorioamnionitis and subsequent preterm delivery. Clinicians should consider early diagnostic amniocentesis in patients in preterm labor with a history of prior amniocentesis, and the routine Gram stain and culture of amniotic fluid.
PURPOSE: We wish to alert clinicians to the possible association between Sickle cell anemia (SCA) and autoimmune liver disease (AIL). METHODS: AIL was diagnosed by serologic, histologic and/or cholangiographic studies in patients with known SCA. RESULTS: Three schoolaged children with SCA were investigated for increased levels of transaminases and/or worsening jaundice. All were diagnosed to have AIL. Two patients had autoimmune hepatitis and have responded to immunosuppressive therapy, and I had primary sclerosing cholangitis and is stable with therapy. CONCLUSIONS: Autoimmune hepatitis and sclerosing cholangitis are rare liver disorders of childhood, but may occur with greater frequency in patients with SCA. Early diagnosis and treatment is essential to prevent progression to liver cirrhosis. This association may provide a clue to the etiology of AIL and warrants further investigation.
A rare case of prenatally diagnosed hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta is presented and the literature reviewed. The placenta was noticed to have multiple cysts at 16 weeks' gestation and elevated maternal serum alpha-fetoprotein was present. Cystic liver masses were first detected in the fetus at 34 weeks' gestation. The liver mass showed a progressive enlargement during the third trimester and after birth, necessitating extended left hepatic trisegmentectomy at 3 months of age. Histological examination established the diagnosis of mesenchymal hamartoma of the liver and mesenchymal stem villous hyperplasia of the placenta. This is the first report of this association in which both lesions were diagnosed in utero and confirmed by histology after delivery. The likely pathogenesis of these strikingly similar lesions is discussed.
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