Pathological confirmation of cystic fibrosis in the fetus following prenatal diagnosis

Prenatal diagnosis of cystic fibrosis is presently based on the determination of microvillar enzyme activities in the amniotic fluid. However, there seems to be no accurate means for confirming the diagnosis of the aborted fetus. During the past year we performed pathological and histopathological examinations on 7 fetuses diagnosed in the second trimester of pregnancy to be affected by cystic fibrosis and compared them with 4 control age-matched fetuses. Glycol-methacrylate-embedded 2-3-mu thick sections of the pancreas, lungs, bronchial tree, and GI tract were stained with toluidine blue, H&E, PAS, and AB-PAS, and examined microscopically. In the controls, PAS-positive granules were dispersed throughout the cytoplasm of most pancreatic acinar and tracheal submucosal glandular cells. In the affected fetuses 2 distinct groups were identified. In one group of 4 fetuses, the pancreatic and tracheal submucosal glands were dilated and contained a weak PAS-positive material. The glandular epithelial cells had very little PAS-positive granules. In this group, the tracheal epithelium was either atrophic or metaplastic and devoid of microvilli. In the second group of 3 fetuses there was less dilation of the glands, and both pancreatic acinar cells and tracheal submucosal glandular epithelial cells contained few PAS-positive granules, which were confined mainly to a perinuclear location. The tracheal epithelial cells contained few microvilli which, when present, appeared thicker and shorter as compared to controls. We feel that histochemical evaluation of pancreatic and bronchial tissue may be of help in the pathological confirmation of cystic fibrosis in human fetuses where the results of the biochemical studies are suggestive of the disease.     

Oligodontia, short stature and small head circumference with normal intelligence

Complete absence of third molars and mandibular permanent second molars is reported in a 19-year-old female, with occipito-frontal head circumference and height at the 3rd centile. The patient's intelligence, appearance and physical examination were normal. Direct count of the patient's sweat pores in different areas of the palms and digits was normal. Microcephaly, short stature and normal intelligence have been reported in two families as a distinct autosomal dominant syndrome. To the best of our knowledge, oligodontia, in addition to these findings, has not been previously reported.     

New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q

We describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,-1,+der(1),t(1;4) (q44;q23 or 24)mat. She is the first patient with an unbalanced translocation involving chromosomes 4 and 1. There is a substantial amount of concordance between the phenotypic features of this patient and those described in the context of partial deletion 1q. The extensive duplication of 4q has no dominant clinical effects in the present infant. These facts support the general concept of much more deleterious effects of deletions versus duplications in human species.     

Reflective functioning: A review

Reflective functioning offers an empirically grounded framework for the assessment of mentalization. This article briefly outlines the theory of mentalization and the development of the Reflective Functioning (RF) scale (Fonagy, Target, Steele, & Steele, 1998). It then offers a review and discussion of empirical studies of parental RF regarding the role of RF in linking adult and child attachment and parental RF in the context of psychopathology. Furthermore, empirical studies on RF in relation to different psychiatric populations and to the role of RF in psychotherapy process and outcome are reviewed and discussed. Although research on RF is still relatively limited, evidence seems to support the relevance of RF as an empirical measure in the fields of attachment, psychopathology and psychotherapy research. However, the RF scale has certain limitations due to the extensiveness of the measure, which future research should take into account.     

Treatments,complications, and healthcare utilization associated with acromegaly: a study in two large United States databases

Pituitary - The economic burden of acromegaly in the US has been largely unknown. We describe the prevalence of treatment patterns, complication rates, and associated healthcare utilization and...     

Use of preoperative antidepressants is not associated with postoperative hospital length of stay

Purpose

Antidepressant medications are commonly prescribed for the treatment of depression, anxiety, and chronic pain. Their use may lead to a number of side effects with important implications in the perioperative period. Our aim was to examine the effect of preoperative antidepressant administration on post-surgical hospital length of stay (LOS) in elective non-cardiac surgery patients.

Design

Historical cohort study.

Methods

Demographic and preoperative data were collected by chart review for all non-cardiac surgery patients who were assessed in the preoperative consult clinic from April 2008 through February 2009. Patients were grouped according to whether or not they were taking antidepressant medications. Median length of stay was compared between patients who took antidepressants preoperatively and those who did not.

Results

Data were collected for 3,692 patients. Two hundred eighty-nine (7.8%) patients were taking antidepressants preoperatively. Use of antidepressants was not associated with an increased hospital LOS. The median LOS was four days both for patients who took antidepressants preoperatively (95% confidence interval [CI] 4 to 4) and for those who did not (95% CI 3 to 5) (P = 0.13).

Conclusions

The preoperative use of antidepressant medications was not associated with increased postoperative hospital LOS following elective non-cardiac surgery.     

Medical Therapy of Gonadotropin-Producing and Nonfunctioning Pituitary Adenomas

Clinically nonfunctioning pituitary adenomas are one of the most common types of pituitary tumors. Unless they present with symptoms related to local mass effect, most tumors are detected incidentally when imaging studies are performed for other reasons. Although clinically nonfunctioning, most of these tumors have evidence, in vitro, of gonadotropin hormone or glycoprotein subunit production. The gonadotropins or their monomer submits rarely cause clinically identifiable effects. When these tumors present as macroadenomas, often with associated mass effect and hypopituitarism, primary therapy is neurosurgery. The role for medical therapy will be reviewed here.     

Disturbed fat absorption following infectious gastroenteritis in children.

Fat absorption was studied in 10 patients recovering from an episode of acute infectious gastroenteritis who failed to gain weight despite adequate caloric intake. Three patients restudied after clinical improvement and three other infants with failure to thrive, unrelated to gastrointestinal problems, served as control subjects. Fat balance studies during the ingestion of a formula containing long-chain fatty acids demonstrated significant degrees of steatorrhea in patients (mean CFA 70.6 +/- 10.7 compared to 90.3 +/- 2.4 in control subjects). The administration of a test meal demonstrated a marked deficiency of duodenal bile acid concentration and of fat incorporation into the micellar phase in patients. Fecal bile acid excretion was significantly increased in patients (mean 33.9 +/- 11.6 microM/kg/day) as compared to control subjects (mean 13.5 +/- 3.1 microM/kg/day). Bacterial overgrowth and abnormalities of the small intestinal mucosa were not constant. Ileal dysfunction and associated bile acid loss are possible causes of disturbed fat assimilation following acute intestinal infection in children.