[Carbohydrate deficient transferrin, gammaglutamyl transferase and mean corpuscular volume in the evaluation of recent alcohol intake in excessive drinkers]. / Transferrina carbohidrato-deficiente, gammaglutamil transferasa y volumen corpuscular medio en la evaluación de la ingesta alcohólica reciente de bebedores excesivos.

BACKGROUND: There are no reliable markers to detect heavy drinking or as a tool to control abstinence compliance in alcoholic treatments. The Mean Corpuscular Volume (MCV), and the gammaglutamyl transpeptidase (GGT), are widely used although their predictive value is somewhat limited due to their low specificity. On the other hand, the Carbohydrate-deficient transferrin (CDT) described in the eighties is highly specific and would be of value in early detection of problem drinking. AIM: To compare the sensitivity and specificity of CDT, GGT, and MCV in order to evaluate their single and combined use as markers for detection of heavy drinking behaviour. PATIENTS AND METHODS: CDT, GGT, and MCV values were determined in blood samples from (a) alcoholics (drinking more than 100 9 alcohol/day; n = 47) and (b) healthy volunteers, teetotalers from the Church of Saints of Later Days (n = 34). At the time of sampling alcoholics were presently drinking or had been abstinent for no more than six weeks. ROC curves were used to determine the best cut-off point for each marker. RESULTS: Sensitivity was found to be similar for all three markers. Specificity was found higher for GGT (90.9%) and CDT (91.0%). The combined use of MCV, GGT and CDT, that is, when at least one of the markers is altered, was shown to detect 83% of the patients. No correlation was observed between the markers and the level of alcohol intake. CONCLUSIONS: CDT could be of value as a marker to detect heavy drinking when used with GGT and MCV values combined. CDT is particularly higher in drinking alcoholics and remains significantly high for at least six weeks after they stop drinking.

[Gallstone dissolution in an adult female population: trial with lovastatin therapy]. / Disolución de cálculos vesiculares en una población de mujeres adultas: ensayo de terapia con lovastatina.

BACKGROUND: There are no chilean reports on gallstone dissolution using oral medications. AIM: To measure the proportion of asymptomatic adult women eligible for gallstone dissolution therapy and to test the effectiveness and tolerance of lovastatin for this purpose. SUBJECTS AND METHODS: Three hundred fifty six women working at health care institutions were subjected to a gallbladder ultrasound examination. Non pregnant women with radiolucent gallstones of less than 2 cm phi were invited to receive lovastatin 20 mg od and were followed during six months. RESULTS: Twenty two women had gallstones and eight eligible women received lovastatin therapy. No reduction in stone size was observed in these women. CONCLUSIONS: Less than half of asymptomatic women with gallstones are eligible for oral dissolution therapy. Lovastatin did not reduce gallstone size after six months of therapy.

Exploring the genetic role of the HLA-DPB1 locus in Chileans with intrahepatic cholestasis of pregnancy.

BACKGROUND/AIMS: Intrahepatic cholestasis of pregnancy is a rare disease of unknown etiology, with a strikingly higher prevalence in Chile than in most other countries. Although several studies suggest that a genetic predisposition is involved in the pathogenesis, no genetic disease-marker has so far been identified. Using a recently developed HLA-genotyping technique, we performed an association study with a highly polymorphic HLA class II gene in patients with recurrent intrahepatic cholestasis of pregnancy and normal control patients. METHODS: Genomic DNA was extracted from 26 unrelated patients with recurrent ICP and 30 unrelated multiparous women without a personal or family history of this disease among a Chilean population. The polymorphic second exon of the HLA-DPB1 gene was amplified by the polymerase chain reaction and hybridized with 25 sequence-specific oligonucleotide probes to assign the HLA-DPB1 alleles on the basis of known sequence variations. RESULTS: Out of more than 50 HLA-DPB1 alleles presently known, 13 were represented in the analyzed groups. Patients with ICP had a higher frequency of the allele DPB*0402 when compared to controls (69% vs 43%). This difference failed to reach statistical significance (x2 = 2.81, corrected p > 0.5). No significant differences were observed between the frequencies of other detected HLA-DPB1 alleles in the analyzed groups. CONCLUSION: In this study, we observed a high frequency of the allele HLA-DPB1*0402 among Chilean patients with recurrent ICP, but no association of the disease with HLA-DPB1 alleles. Therefore, HLA-DPB1 alleles do not play a major role in determining susceptibility or resistance to intrahepatic cholestasis of pregnancy.

Extraocular muscles in congenital strabismus: muscle fiber and nerve ending ultrastructure according to different regions.

The ultrastructure of the extraocular muscles of patients affected by congenital strabismus is not completely known, and the structures responsible of the pathogenesis of this condition are still to be determined. Specimens obtained from patients suffering from congenital strabismus were studied and compared with specimens obtained from patients enucleated for various pathologies and not affected by any disorder in the oculomotor system. The scleral myotendinous junction, where the occurrence of an altered proprioceptive innervation was already reported, was examined, and findings obtained were compared with those observed in the muscle body (venter), where motor innervation is prominent and usually described as normal. Only a small number of damaged muscle fibers was found everywhere. The damage consisted in alterations of both contractile structures and mitochondria and resulted in severer lesions in the scleral myotendinous junction rather than in the muscle body. The normal muscle fibers were innervated by motor nerve endings with normal features and by few altered proprioceptors. The less damaged muscle fibers were innervated by normal motor nerve endings and severely damaged proprioceptors. The most severely damaged muscle fibers did not receive any type of innervation. These data seem to imply that the most important functional alteration in strabismus regards the scleral myotendinous junction. It is the authors' opinion that these findings might have a clinical importance in choosing the treatment to be pursued in patients with a squint.

[Hypertrophy of the pigment epithelium in familial intestinal polyposis]. / L'hypertrophie de l'épithélium pigmentaire au cours de polyposes intestinales familiales.

Recently a few cases of pigment epithelium hypertrophy associated with Gardner's syndrome and familial polyposis have been described. The authors report the results of an ophthalmoscopic investigation on patients affected by Gardner's syndrome and familial polyposis. The importance of the ophthalmoscopic finding associated with this type of intestinal pathology is discussed.

Clinical and therapeutical considerations on a case of conjunctival melanoma.

The authors report a case of limbal conjunctival melanoma treated in a conservative manner. The choice of such a therapy was based not only on clinical examinations and review of literature, but also and mainly on the intraoperative histological examination that showed no involvement of the conjunctival deeper layers.