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To strengthen the evidence for genetic linkage to COL7A1, we have studied 26 generalised recessive dystrophic epidermolysis bullosa (EB) families of British, Italian, Irish, and South African origin. We chose two linkage markers, a COL7A1 PvuII intragenic polymorphism and a highly informative anonymous microsatellite marker, D3S1100, which maps close to the COL7A1 locus at 3p21.1-3. Diagnosis was established by family history, clinical examination, immunofluorescence, and ultrastructural studies. The PvuII marker was informative in 16 families with a maximum lod score (Zmax) of 3.51 at recombination fraction (theta) = 0. The D3S1100 microsatellite was informative in 24 out of 25 families with Zmax = 6.8 at theta = 0.05 (Z = 4.94 at theta = 0) and no obligatory recombination events. These data strongly suggest that COL7A1 mutations cause EB in these families and, combined with previous studies, indicate locus homogeneity. The importance of anchoring fibrils for dermal-epidermal adhesion is further underlined. D3S1100 may later prove useful in prenatal diagnosis of this disease, if used in combination with other markers.

Antonakopoulos et al 1 studied 15 pathological specimens of obstructive appendicopathy identified by H&E staining but failed to report on the clinical data of these patients or merely the indication for appendicectomy. In the absence of scarring and inflammation, they suggested that it is more likely a congenital anomaly characterised by failure of the mucosa to extend to the distal end of the developing appendix, causing distal lumen obliteration and occasionally hypoplasia of this part of the organ. A normal-looking appendix or one with a narrowed distal end is easily identifiable by the experienced surgeon during laparotomy. …

In this study we searched for mutations in the type VII collagen gene (COL7A1) in 10 families from Southern Italy with severe generalised recessive dystrophic epidermolysis bullosa using PCR amplification of genomic DNA, heteroduplex analysis and direct nucleotide sequencing. Our principal aim was to identify any recurrent mutations in COL7A1 that might facilitate future mutation detection strategies in this population. Three recurrent COL7A1 mutations were delineated in six of the 10 families: a frameshift mutation in exon 4, 497insA, was detected in three affected individuals from three families, a deletion mutation at the acceptor splice site of intron 114/exon 115, 8441-14del21, was found in five patients in three of the families, and an intron 49 acceptor splice site mutation, 4783-1 G-to-A, was identified in three subjects in two families (GenBank accession no, L02870). Haplotype analyses showed evidence for propagation of common ancestral mutant COL7A1 alleles for each of these recurrent mutations. These results contribute significantly to understanding the nature of COL7A1 pathology in patients from Southern Italy and in designing future approaches to mutation detection.

We report that mutation in the gene for plectin, a cytoskeleton–membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, supportive genetic analysis (localization of the human plectin gene to chromosome 8q24.13–qter and evidence for disease segregation with markers in this region) and finally the identification of a homozygous frameshift mutation detected in plectin cDNA. Absence of the large multifunctional cytoskeleton protein plectin can simultaneously account for structural failure in both muscle and skin.

431 newborns of diabetic mothers (NDM) were studied between the years 1980 and 1990. They were divided into two groups: a first group of 227 patients born from mother with gestational diabetes mellitus; a second group of 204 patients born from mother with pregestational diabetes mellitus. The first and the second group were subdivided into two subgroups: the A, referring to the period 1980-85, and the B, referring to the period 1986-90. Subgroups B were characterized by a better metabolic control of pregnancies. Our protocol consisted of anamnestic study, clinical, metabolic, instrumental examinations and clinical follow-up for a period ranging from 1 to 10 years. The study of our data suggests that embryo-feto-neonatal mortality doesn't show significantly difference between the first and the second group and between subgroups A and B. The percentage of preterm infants was significantly more elevated in the second group, the percentage of full-term newborns was significantly higher in the first group. The incidence of cesarean sections was significantly higher in subgroups B. Mean birthweight was more elevated in the first group and the incidence of macrosomia was higher in subgroups A. The incidence of asphyxia, hypotonia, seizures, transient cardiomegaly, transient hypoglycaemia and hypocalcemia, was higher in subgroups A, without significant difference between the first and the second group. Congenital anomalies were heterogeneous and there were no significant difference between the first and the second group. Only the incidence of congenital cardiopathies was significantly more elevated in the second group. At follow-up neurologic sequelae were mainly characterized by behavioural anomalies.

The authors carried out a research on diffusion of Herpes virus 1 and 2 investigating specific serous antibodies over a sample of 1660 women living in Roma and in the surrounding area aged between 14 and 40 years; 595 of them were suspected to have an Herpes infection. The results of this research confirmed an high frequency of Herpes 1 and 2 infection in the examined sample. In order to correlate better the outcomes obtained by the investigation on the suspected sample 102 vaginal smear, executed on women suspected to have a developed infection, have been examined. The issues confirmed that it's useful to execute cytoimmunologic research in so far as such method seems to give more certainty in infection and disease identification than seroconversion investigation.

A short epidemiological presentation of the toxoplasmic infectious disease in our country on suspected cases compared with a clinically healthy group shows the importance of the phenomenon, especially for its various preventative and therapeutic implications.