Effects of oxidants and antioxidants on chromosomal breakage in Fanconi's anemia lymphocytes.

Peripheral blood lymphocytes from eight Fanconi anemia (FA) patients, 14 FA heterozygotes, and nine normal subjects have been tested for their susceptibility to chromosomal breakage induction by diepoxybutane (DEB) and by two peroxides. In addition, the effect of five antioxidants was investigated in standard cultures and in cultures stressed either with DEB or with butylhydroperoxide (BHP) or with hydrogen peroxide (H2O2). DEB, BHP, and H2O2 dramatically increased the chromosomal breakage levels in homozygous and heterozygous FA cells. A partial correction of chromosomal instability was obtained by treating the patients' lymphocytes with antioxidants. A "protective" effect was also noted in the DEB or peroxide-stressed lymphocytes of patients and heterozygotes, grown in the presence of antioxidants

16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review

A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and pulmonary hypertension. Multiplex ligation-dependent probe amplification (MLPA) demonstrated duplication of the subtelomeric region of chromosome 16p and deletion of the subtelomeric region of chromosome 4q, suggesting a translocation between 4q and 16p. The karyotype of his parents was normal and their MLPA analysis also indicated a de novo imbalance. He had microcephaly, high frontal hairline, thin blond hair, bilateral blepharophimosis and palpebral ptosis, short nose, everted upper lip, cleft palate, micrognathia, cupped anteverted ears, hypoplastic distal phalanges and bilateral inguinal hernia. He also had pulmonary hypertension with tricuspidal regurgitation; cavernous liver hemangioma anomalies have been previously described in association with dup16p. We concluded that pulmonary and other vascular anomalies can be a feature of dup16p. We believe this is the first confirmed case of a 16p subtelomeric duplication with vascular anomalies identified in Albania

Failure of dyepoxy-butane to enhance sister chromatid exchange levels in Fanconi's anemia patiens and heterozygotes.

Peripheral lymphocytes of three Fanconi's anemia (FA) patients and of five heterozygotes have been tested for their susceptibility to chromosomal breakage and sister chromatid exchange (SCE) induction by diepoxybutane (DEB). As previously shown, DEB dramatically increases the chromosomal breakage level in both homozygotes and heterozygotes. Slightly, but significantly, reduced spontaneous levels of SCE were found in cultures from FA patients and FA gene carriers as compared with controls. SCE rates were not enhanced in lymphocytes grown in the presence of DEB, irrespective of the time at which it had been added to the culture, and were comparable in cells of FA patients and FA heterozygotes. This was in contrast with SCE rates in control cells, which showed increases positively related to the length of DEB treatment

Pain control with ultrasound-guided inguinal field block compared with spinal anesthesia after hernia surgery : a randomized trial

Background Inguinal field block (IFB) is a recommended technique for pain control after inguinal hernia repair but is also underused by surgeons. Currently, there is no decisive evidence on which technique, IFB or spinal anesthesia block (SAB), provides better pain control during the first day after hernia repair. In this study, we compared ultrasound-guided IFB performed by anesthesiologists and SAB for pain control during the first day after hernia repair. Methods We compared static and dynamic pain scores measured with a numerical rating scale in 86 male patients scheduled for elective unilateral inguinal hernia repair with either ultrasound-guided IFB (n = 42) or SAB (n = 44). Results Dynamic and static pain at 4 hours (P 0.34, "large effect size"), and dynamic pain the morning after operation (P =.04, r > 0.20, "medium effect size") were less in the field block group compared with the SAB group. Postoperative analgesic consumption was reduced during hospital stay (P =.005, r > 0.34, "large effect size") and for 7 postoperative days in the field block group (P =.03, r > 0.20, "medium effect size"). Conclusion In this study, ultrasound-guided IFB provided lesser dynamic pain scores during the first postoperative day and reduced use of analgesics for 1 week compared with spinal anesthesia after inguinal hernia repair. Our technique could become a substitute performed by anesthesiologists in settings in which IFB is not performed routinely by surgeons

A pilot beta-thalassaemia screening program in the Albanian population for a health planning program

In Albania, no definite national screening programme of beta-thalassaemia has yet been developed for carrier detection. Only limited information about the occurrence and the types of haemoglobin abnormalities is available. Thus, an educational and screening programme was carried out in one high school with a total of 217 young students from the coastal province of Lushnja in Albania. The pilot programme included a systematic sampling of whole saliva, DNA genomic extraction and the determination of defective beta-thalassaemia genes by reverse dot-blot hybridization with 22 probes specific for the Mediterranean populations.Of the 201 subjects tested, 17 (8.4%) students turned out to be carriers of beta-thalassaemia mutations and haemoglobin variants. The most common mutation is HbS (c.20A-->T) with a frequency of 3.2%, followed by IVS-I-110 (G-->A) (c.93-21G-->A) substitution identified in 4 out of 402 chromosomes (1%). In the province of Lushnja, the frequency of beta-thalassaemia carriers was high. As expected, the results show that identified mutations in this population are similar to those found in the east Mediterranean area, suggesting the same origin for mutant alleles during migratory streams. Implementation of a routine carrier-screening programme is significantly facilitated by the presence of only two mutations and would be a wise approach to prevent beta-thalassaemia in the region