Cytomegalovirus infections in thalassemic patients after bone marrow transplantation

We report the incidence of cytomegalovirus (CMV) seroconversion, infections and mortality in 169 consecutive thalassemic patients transplanted in Pesaro. We observed a 44% incidence of early seroconversion and a 52% incidence of late seroconversion. No relationship was found between seroconversion and acute or chronic graft-versus-host disease (GVHD) or rejection. The donor status did not influence the incidence of seroconversion, GVHD and rejection. Only three patients died of CMV infection (1.7%); in each case CMV disease was the final cause of death in patients with severe acute GVHD.     

Bone marrow transplantation in an HIV positive thalassemic child following therapy with azidothymidine

The authors report their experience on allogeneic bone marrow transplant in an HIV seropositive thalassemic child. Before transplant a treatment with Azidothymidine was performed with the aim of reducing the viral load. Engraftment took place but, later, an explosive upsurge of viral disease occurred with encephalitis, positivation of the P24 antigen, proliferation of opportunistic infections and an increase of the IgG level. Furthermore the failure of CD4+ cell recovery was also observed. This case underlines that bone marrow transplantation can have a successful engraftment in HIV seropositive patients, but this doesn't modify the course of the infection.     

Serum glucose concentration and ACP1 genotype in healthy adult subjects

Acid phosphatase locus 1 (ACP 1 ) or cytosolic low molecular weight protein tyrosine phosphatase is a polymorphic enzyme that can hydrolyze phosphotyrosine-containing peptides of the human insulin receptor and of band 3 protein. High-activity ACP 1 may favor an increase in serum glucose concentration through a depression of insulin action and through inactivation of aldolase, phosphofructokinase, and glyceraldehyde-3-phosphate dehydrogenase induced by dephosphorylation of band 3 protein. In diabetic subjects, we have previously reported lower serum glucose concentration in subjects with low-activity ACP 1 A and AB phenotypes. We have now studied the relationship between serum glucose concentration and ACP 1 genotype in a sample of 137 healthy adult workers of our university. In males, serum glucose concentration is significantly higher in medium-high- than in low-activity ACP 1 genotypes. With advancing age in males, there is a progressive increase in glycemic differential between medium-high- and low-activity ACP 1 genotypes. The data suggest that normal variability of ACP 1 genotype influences serum glucose concentration in normal individuals. Such influence depends on sex and in males becomes more marked with advancing age.     

Depressor supercilii muscle: anatomy, histology, and cosmetic implications.

PURPOSE: To describe the gross and microscopic anatomy of the depressor supercilii muscle and to discuss its cosmetic implications. METHODS: The depressor supercilii muscle was studied in detail with the use of gross anatomic dissections carried out on eight sides of four fresh cadaver heads and ten sides of five preserved cadaver heads. Histological analysis was performed on parasagittal sections of one side of a preserved cadaver head. Measurements were taken on cadaver specimens to determine the insertion point of the depressor supercilii muscle on the undersurface of the skin. RESULTS: The depressor supercilii muscle is distinct from the corrugator supercilii muscle and the medial head of the orbital portion of the orbicularis oculi muscle. The depressor supercilii muscle was noted to be superior in orientation and redder in color than the orbicularis oculi muscle. The depressor supercilii muscle arose from the frontal process of the maxilla approximately 1 cm above the medial canthal tendon and appeared to originate from two distinct heads in most specimens, a novel finding. In specimens containing two heads of the depressor supercilii muscle, the angular vessels passed between the two muscle heads. In specimens containing one muscle head, the angular vessels were found anterior to the muscle. The insertion of the depressor supercilii muscle in the dermis lay approximately 13 to 14 mm superior to the medial canthal tendon. CONCLUSIONS: The origin, insertion, and anatomy of the depressor supercilii muscle help it to act as a depressor of the eyebrow. Histologically, the depressor supercilii muscle arises distinctly from bone and has a unique insertion. The depressor supercilii muscle appears to be distinct from the corrugator supercilii and the orbicularis oculi muscles.     

Haptoglobin genotype and natural fertility in humans.

OBJECTIVE: To study the possible relation between human natural fertility and haptoglobin (Hp) genotype. DESIGN: Prospective study. SETTING: Maternity departments of local hospitals in two Italian localities. PATIENT(S): Healthy women who had just given birth in the maternity departments of two local hospitals (n = 679). INTERVENTION(S): Venous blood collection for determination of Hp genotype with the use of starch gel electrophoresis of hemoglobin-supplemented serum. MAIN OUTCOME MEASURE(S): Distribution of Hp genotypes in relation to age of puerperae. RESULT(S): In both populations, the proportion of young mothers was much higher among women who were homozygous for the Hp*1 allele (the Hp*1/*1 genotype) than among women who had other Hp genotypes. In addition, the proportion of multiparous women among the older mothers was higher among those with the Hp*1/*1 genotype than among those with other Hp genotypes. CONCLUSION(S): The data suggest that women with the Hp*1/*1 genotype reproduce at an earlier age and have higher natural fertility potential than women with other Hp genotypes.     

Association between presenilin-1 -48C/T polymorphism and Down's syndrome

Individuals with Down's syndrome (DS), i.e., trisomy 21, over 40 years of age, are likely to develop neuropathological changes characteristic of Alzheimer's disease (AD). The involvement of chromosome 21 both in DS and AD suggests a shared genetic susceptibility to these disorders, but genetic determinants are still undefined. The -48C/T polymorphism in the PSEN1 promoter is a possible candidate, since it has recently been associated with an increased risk of early onset AD. Based on the assumption that the excess of dementia in DS might be a consequence of a different distribution of the -48C/T polymorphism, we investigated the association between DS and this polymorphism in patients with trisomy 21 and controls. Overall, 260 DS patients and 197 controls were recruited at the Department of Neurosciences, Tor Vergata University of Rome. Cases and controls had similar age and gender distribution. High molecular weight DNA was extracted from whole blood samples collected in EDTANa(2) and -48C/T genotypes were determined. Genotype and allele frequencies were compared between cases and controls. Cases were less likely than controls to have the CC genotype ( P = 0.05). A significant difference for allele distribution between DS cases and controls was found, with DS showing a lower frequency of the allele C compared with the control population (OR: 0.57; 95% CI: 0.35-0.91; P = 0.01). No significant interaction of PSEN1 with age, gender, ApoE and -850 TNF-alpha polymorphisms was found. The association found suggests that the -48C/T polymorphism in the PSN1 gene promoter, which is involved in the modulation of amyloid beta load in human AD, is associated with DS. However, the biological role of this polymorphism in DS-related dementia remains unclear and merits further investigation.     

Measurement of the ovarian cancer-associated antigen CA 125 in monitoring tumor burden and response to chemotherapy

CA 125 serum levels were measured in 74 patients with ovarian carcinoma. Among 31 patients undergoing a second look laparotomy (SL) after chemotherapy pathologic complete response (PCR) was observed in 14 patients, residual disease (RD) less than 2 cm in 7 patients and RD greater than 2 cm in 10 patients. The disease status was compared to the CA 125 serum levels measured just before SL. Thirteen of the 14 patients with PCR had serum CA 125 values less than 35 U/ml (specificity: 93%). On the other hand, only 10 of the 17 patients with RD showed serum levels greater than 35 U/ml (sensitivity: 59%). Moreover, in the 43 patients receiving chemotherapy, CA 125 levels correlated with the course of the disease in 36 (84%). With regard to early detection of recurrence, in 9/14 patients with PCR, whose CA 125 levels were monitored monthly, by 1 to 7 months an increase of the tumor marker preceded clinical evidence of relapse in 9/9 relapses (100%). In conclusion, CA 125 assay can be helpful in the management of ovarian cancer patients, in monitoring the response to chemotherapy, in the early detection of tumor recurrence, and in predicting the SL findings, although the low sensitivity could be a major drawback in patients with RD before SL.     

Correlation between skin prick test using commercial extract of cow''s milk protein and fresh milk and food challenges

The skin prick test (SPT) is regarded as an important diagnostic measure in the diagnostic work-up of cow's milk protein allergy. It is not known whether commercial extracts have any advantage over fresh milk. The aims of the study were to (i) compare the diagnostic capacity of SPTs for the three main cow's milk proteins (alpha-lactalbumin, casein and beta-lactoglobulin) with fresh milk and (ii) determine a cut-off that discriminates between allergic and tolerant children in a controlled food challenge. A study was carried out on 104 children consecutively attending two paediatric allergy clinics for suspected cow's milk allergy. A clinical history, SPTs with fresh cow's milk and commercial extracts of its three main proteins and a challenge test were performed on all the children. A study of the validity of the prick test was also performed by taking different cut-off points for fresh milk and its proteins. Twenty-eight of 104 challenge tests (26.9%) were positive. At a cut-off point of 3 mm, fresh milk showed the greatest negative predictive value (98%), whereas casein showed the greatest positive predictive value (PPV, 85%). Calculation of 95% predicted probabilities using logistic regression revealed predictive decision points of 12 mm for lactalbumin, 9 mm for casein, 10 mm for beta-lactoglobulin and 15 mm for fresh cow's milk. We found that the greater the number of positive SPTs for milk proteins, the more likely the positive response to challenge. Having a positive SPT for all three milk proteins had PPV of 92.3% and would seem more clinically useful than any cut-off. Both fresh milk and cow's milk extract of the three main proteins could be useful in the diagnostic work-up of cow's milk allergy. Finding positivity to all three cow's milk proteins seems to be a simpler and more useful way of avoiding oral food challenges.     

Angioscintigraphy with gammacamera in vascular pathology of the encephalon (author's transl)]

Serial angioscintigraphy with 99mTc-pertecnetate and gamma camera was carried out in more than 500 cases of cerebropathies with various but prevalently vascular pathogenesis. Pictures are described and discussed with reference to the differential diagnosis, and a number of significant cases are reported in detail.     

Allogeneic bone marrow transplantation in 24 patients with multiple myeloma reported to the EBMT registry

Twenty-four patients with multiple myeloma received an allogeneic bone-marrow graft from HLA-compatible sibling donors (n = 23), or a twin donor (n = 1). Eighteen patients are alive, 1-36 months post bone-marrow transplantation (median 14 months). Ten of these patients had no signs of multiple myeloma as judged by immunoglobulins in serum, light chains in urine, or the percentage of plasma-cells in bone-marrow aspirate. Bone lesions on X-ray were mainly unchanged. Six patients died from transplant-related complications 3 weeks to 5 months post transplantation. One of these patients had severe acute graft-versus-host disease (aGVHD). In other patients aGVHD was a minor problem. Allogeneic bone-marrow transplantation appears to be a promising method for treatment of a selected group of patients with multiple myeloma.