Bacteriological aspects of Darier’s disease

Background There are no established data on the prevalence of bacterial colonization of lesional skin, nares and perineum in Darier’s disease (DD), or its contribution to the clinical manifestations of the disease. Objective To determine the prevalence of bacterial colonization of lesional skin and Staphylococcus aureus (S. aureus) in nares and perineum in 75 patients with DD, the association of these parameters with disease and patient characteristics, and the features of the bacterial skin infection in this group. Methods Medical interviews and physical examinations were performed. Bacteria were isolated from swabs taken from lesional skin, nares and perineum. Results S. aureus was isolated in 68%, 47% and 22% of lesional skin, nares and perineum cultures respectively. Subjects with positive S. aureus culture from lesional skin and/or nares had a statistically significant higher percentage of skin area affected and a more severe disease than patients with negative culture. Thirty of the 75 patients (40%) recalled bacterial skin infection, most often on the chest. Conclusions Patients with DD have high prevalence of S. aureus colonization in lesional skin and nares, with a correlation between disease severity and extent of the colonization. Further studies examining the consequences of S. aureus eradication in those sites may establish the need for S. aureus lesional skin and nares colonization screening and eradication as part of the treatment of DD exacerbations.     

Sonography-guided fetal blood sampling for pH and blood gases in premature fetuses with abnormal fetal heart rate traces.

In nine pregnancies, remote from term, with an abnormal Non-Stress Test (NST) and Bio-Physical Profile (BPP) of 3 or above, cordocentesis for fetal blood gas analysis was performed. In seven cases an immediate post-partum blood sample was taken from the fetal cord for a similar analysis. The two tests gave very similar results. The results showed fetal acidemia (pH 7.09-7.19 and B.E. -10-15) in 4 cases, followed by immediate delivery. In the remaining 5 cases, normal blood gases were evident (pH 7.28-7.35); despite the abnormal NST, pregnancy was allowed to continue for 2 to 7 weeks, under close supervision. At birth, 2 out of 9 newborns were deemed by the neonatologist suffering from asphyxia. Both belonged to the acidemic group of women who were managed by immediate cesarean section. The other 5 fetuses, which were managed expectantly, had normal post-partum blood gases or Apgar score; none had asphyxia. Fetal blood gas analysis, on samples obtained by cordocentesis, provides useful information that can assist in the management of premature fetuses suspected of being distressed, according to their heart traces. Normal fetal blood gases can identify those fetuses falsely identified by the NST as in distress and thereby spare them unnecessary premature birth with its known complications.     

Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds

Two kindreds with glutaric aciduria type I were investigated. Of 20 family members who underwent neurologic examination and organic acid analysis of urine, 18 had glutaryl-coenzyme A dehydrogenase (GDH) activity determined in cultured skin fibroblasts and 12 had computed tomographic brain scans. Six homozygotes were identified who had undetectable GDH activity and identical biochemical profiles (consisting of glutaric and 3-hydroxyglutaric aciduria, reduced serum carnitine concentrations, and frontotemporal atrophy). Serial computed tomographic brain scans of one homozygous infant demonstrated the sequential postnatal development of this atrophy during 3 years before the development of clinical manifestations. In three of the six homozygotes, including the father in one kindred, there were no clinical manifestations of glutaric aciduria type I. These findings raise questions about the value of prenatal diagnosis in predicting clinical manifestations in homozygous newborn infants.     

Exophthalmus--prenatal ultrasonic features for diagnosis of Crouzon syndrome

Prenatal real-time ultrasonographic diagnosis of exophthalmus is presented. Diagnosis was made at the 35th week of gestation in a fetus of a patient affected with Crouzon syndrome (craniofacial dysotosis). Recognition of exophthalmus as a part of Crouzon syndrome and the easy visualization of the eye balls and palpebrae in the third trimester made the diagnosis possible.     

Suppression with gonadotropin-releasing hormone analogues prior to stimulation with gonadotropins: comparison of three protocols

This study compared three groups of patients treated with three different protocols of suppression of the pituitary-ovarian axis prior to and during gonadotropin stimulation for in vitro fertilization with a nonsuppressed control group. Patients treated with daily injections of DTRp6 (Decapeptyl 0.5 mg) or with a single injection of Decapeptyl depot (3.2 mg CR) had a longer folicular phase than patients treated with Buserelin (1.2-1.5 mg daily) and the patients in the control group. The number of human menopausal gonadotropin ampules required to reach adequate stimulation was also significantly higher in the former two groups of patients. The number of oocytes recovered (6-7 per patient), fertilized (45-58%) and cleaved (92-100%) did not differ among the groups. Peak estradiol levels and the pregnancy rate were highest in the group treated with Buserelin. The overall picture would indicate that suppression with Buserelin was the least profound.     

Recurrence rate after fluid aspiration from sonographically benign-appearing ovarian cysts.

The outcome after fluid aspiration from 41 sonographically benign-appearing ovarian cysts was assessed. The considerable probability of recurrence was significantly higher after ultrasound-guided aspiration than following aspiration via laparoscopy (54% versus 30%, respectively, at 36 months). Although all the recurring cysts were benign, the concern with malignancy and the high recurrence rate seem to indicate that fluid aspiration from sonographically benign-appearing cysts by either method is not the management of choice.