Anterior pituitary, adrenal, and gonadal hormones during cocaine withdrawal

Plasma luteinizing hormone (LH), prolactin, testosterone, and cortisol levels were determined in 16 patients after hospital admission for cocaine abuse, during the course of 4 weeks of hospitalization, and before discharge. Hyperprolactinemia was found at admission (mean +/- SD, 27.5 +/- 10.2 ng/ml) and persisted until discharge (mean +/- SD, 28.7 +/- 10.8 ng/ml). Plasma LH, testosterone, and cortisol levels were within normal limits. These findings suggest that persistent elevation of plasma prolactin levels after cocaine withdrawal may reflect a chronic cocaine-induced derangement in neural dopaminergic regulatory systems.     

Pyoderma gangrenosum, erythema elevatum diutinum and IgA monoclonal gammopathy

A patient with erythema elevatum diutinum (EED) developed pyoderma gangrenosum (PG). Investigation revealed an IgA kappa monoclonal gammopathy. Previous reports of PG in association with EED are reviewed and the spectrum of the neutrophilic dermatoses discussed.     

Enalapril increases cardiac refractoriness.

The influence of enalapril--an angiotensin converting enzyme inhibitor--on cardiac refractoriness was investigated. Strength-interval curves were initially obtained under control conditions and after exposing the muscles to Tyrode solution containing 50 micrograms/ml of enalapril. The results indicate that enalapril displaced the strength-curves to the right. The minimal current intensity required to elicit a propagated response was clearly increased by enalapril at all the intervals used. No change in action potential duration was found with enalapril but the action potential amplitude and the resting potential were both increased. The rise in cardiac refractoriness caused by enalapril might indicate that the drug has anti-arrhythmic properties.     

Treatment of caustic ingestion: an analysis of 239 cases

The objective of the present study was to analyze a 37-year historical series of patients who had ingested caustic substances, and who were treated in a teaching hospital, to assess the effectiveness of the therapy administered during this period. We studied 239 patients who ingested caustic soda (NaOH) from 1957 to 1994. Data were collected from the medical records of the patients and from interviews with them and analyzed by software and by statistical tests of association. The results showed that more women than men ingested caustic substances (57%, n=153). Ingestion was associated with suicidal intent in 60% of cases and was accidental in 37.2% of cases. The amount of substance ingested ranged from a trace to as much as three tablespoons, with the amount tending to be larger in the suicide attempts. Of the 215 patients for whom information about complications due to ingestion was available, 88.4% (190) presented lesions of the esophagus (73% with stenosis), 1% died during the acute phase, and 10.6% did not present complications. The data revealed that the presence and severity of stenosis were correlated with the amount of caustic substance ingested. The treatment received by the patients in the study sample varied over the years according to the prevailing literature recommendations. Based on our review, we conclude that neither the use of an antidote nor early treatment immediately after ingestion is effective. Treatment with a corticosteroid (1.5-2 mg/kg/day prednisone), an antibiotic, and a high-protein and hypercaloric diet seems to be beneficial for patients who ingest small or medium amounts of caustic soda. When 2-3 tablespoons are ingested, corticosteroids, in addition to being unable to prevent the formation of esophageal stenosis, increase the risk of other complications.     

Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.

OBJECTIVE: To analyze the dysmorphological variability and to investigate the presence of mutations in the exon 1 of TWIST gene using direct sequencing in Brazilian families presenting with Saethre-Chotzen Syndrome (SCS). METHODS: Four families with 24 patients diagnosed as having features of SCS were studied. Phenotypic characteristics of all patients were inventoried. The investigation protocol included anamnesis, dysmorphological examination, abdominal ultrasound, spine and cranium x-ray, chromosomal analysis on GTG banding, and screening for mutations in the exon 1 of TWIST gene. RESULTS: Frequent facial features included brachycephaly (24 of 24), facial asymmetry (20 of 24), prominent ears crus (15 of 24), low-set ears (14 of 24), maxillary hypoplasia (13 of 24), prominent nasal bridge (13 of 24), ptosis of the eyelids (12 of 24), and low-set frontal hairline (12 of 24). Limb abnormalities such as partial hand cutaneous syndactyly (18 of 24), clinodactyly (13 of 24), and broad great toes (13 of 24), and partial cutaneous syndactyly of the feet (9 of 24) were also detected. Among radiological findings were relevant bicoronal (eight of nine) and unicoronal (one of nine) craniosynostosis, digital impressions (eight of nine), bilateral parietal foramina (two of nine), partial fusion 1 and 2 degrees costal arches (two of nine) and bifid spine on lumbar vertebra (two of nine). GTG-banding chromosomal analyses were normal. No TWIST gene mutations were found. CONCLUSIONS: Affected individuals in these four SCS families may carry mutations in other genes of the same developmental pathway. Considering the complexity of the genes involved in skull-limbs development, an accurate dysmorphological evaluation in patients with SCS and their families is especially important for genetic counseling.     

Two cases of Y; autosome translocations: A 45, X male and a clinically trisomy 18 patient

We report on 2 cases of Y;autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time. © 1994 Wiley-Liss, Inc.