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At least 19 recordsLinked to original sources
PubMed2006

The results of immediate re-repair of zone 1 and 2 primary flexor tendon repairs which rupture.

This study reports the outcome of immediate re-repair of primary flexor tendon repairs in zones 1 and 2 of the fingers which had ruptured. Between June 1989 and May 2003, a total of 62 fingers in 61 patients presented with ruptured flexor tendon repairs within 48 hours from rupture. Immediate re-repair and rehabilitation was carried out in 44 fingers (71%) in 43 (70%) patients. Thirty-six patients completed the 8-week therapy programme after re-repair in 37 fingers. Nine (24%) had excellent, 10 (27%) good, 5 (14%) fair and 13 (35%) had poor results when assessed by the original Strickland method. Five fingers in five patients ruptured the re-repair. Poor results and second ruptures were particularly common after re-repair of ruptured tendon repairs in the little finger. In the light of these findings, a policy for dealing with ruptured primary flexor tendon repairs in the fingers is suggested.

Adolescent↗
PubMed2005

Squamous cell carcinoma of the lateral nail fold.

The digital nail complex is occasionally involved by squamous cell carcinoma. The published literature has either been indiscriminating of the site of origin of this tumour within the nail complex or has concentrated attention on the nail bed as the site of pathology. Tumours originating in the lateral nail fold can be clearly differentiated from those of the nail bed itself. This study identifies six cases of squamous cell carcinoma arising in the lateral nail fold. While surgical convention remains to amputate the digital tip for squamous cell carcinoma of any part of the nail complex, the dermatological literature identifies that local surgery can be curative for these tumours, when presenting early and without bone involvement, although offering no discussion of reconstruction. Reconstruction is desirable and methods of achieving this following local excision of lateral nail fold tumours are illustrated in this series.

Adult↗
PubMed2005

Anterior scoring of the upper helical cartilage as a refinement in aesthetic otoplasty.

BACKGROUND: Anterior scoring with the use of simple or dedicated instruments, toothed forceps, endoscopic carpal tunnel release instruments, and needles has been described previously. The upper third of the ear easily maintains the original shape because memory and elasticity are stronger than in the middle or the lower part of the ear. This report describes a further refinement to the Chong-Chet anterior scoring technique, consisting of anterior scoring of the upper helical cartilage to correct the helical radix upper prominence. METHODS: A retrospective study analyzed 20 surgeries for prominent ears. All the subjects had undergone otoplasty softening the helix. RESULTS: There were no residual ear prominence/upper third prominence or cartilage irregularities at the 1-year follow-up evaluation. Anterior auricular cartilage scoring is an effective technique for controlling the degree and position of the antihelical fold. Furthermore, the upper third of the pinna seems to have a stronger memory than the middle third. To prevent this late complication the authors routinely perform anterior scoring up to the helix, weakening that cartilage usually untouched with other procedures. CONCLUSION: This refinement, in combination with other procedures is safe, easy, and fast, giving reproducible and good aesthetic results.

Adolescent↗
PubMed2005

Intravenous immunoglobulins and plasmapheresis combined treatment in patients with severe toxic epidermal necrolysis: preliminary report.

Toxic epidermal necrolysis (TEN) is an acute drug-induced life-threatening disorder characterised by extensive epidermal exfoliation and high rate of mortality. Between October 2000 and April 2003, five severe TEN patients were evaluated using a specific TEN severity-of-illness scale (SCORTEN) and treated for the first time, with a combined therapy using Intravenous Human Immunoglobulins (IVIG) and plasmapheresis. The standardised mortality ratio (SMR) analysis ([Sigma observed deaths/Sigma expected deaths]x100) was applied to establish how IVIG and plasmapheresis treatment could reduce TEN patient mortality. The observed mortality was one out of five patients corresponding to 20%. The expected mortality based on SCORTEN was 3.319 corresponding to 66%. The SMR analysis revealed a 70% reduction in mortality (SMR=0.30; 95% confidence interval, 0.0-0.96). Our series show a low mortality rate (20%) related to the severity of the patients (66% expected mortality). The use of IVIG in association with plasmapheresis has a rational basis and may be effective in severe TEN patients.

Adult↗
PubMed1999

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

Wilson disease (WD) in the Sardinian population has an approximate incidence of 1:7,000 live births. Mutation analysis of the WD gene in this population reported in our previous articles led us to the characterization of two common mutations and a group of 13 rare mutations accounting for the molecular defect of 8.5, 7.9, and 15.1% of the WD chromosomes. However, molecular analysis of the WD chromosomes containing the most common haplotype, which accounts for 60.5% of the WD chromosomes, failed to define the disease-causing mutation. In this study, we characterized the promoter and the 5' UTR of the WD gene sequence and carried out a mutation analysis in this DNA region from patients with the most common haplotype. The promoter is contained in a GC-rich island and shows a TATA and a CAAT consensus sequence as well as potential binding sites for transcription factors and metal response elements. In all the analyzed 92 chromosomes with this haplotype, we detected a single mutation consisting of a 15-nt deletion from position -441 to position -427 relative to the translation start site. Expression assays demonstrated a 75% reduction in the transcriptional activity of the mutated sequence compared to the normal control. By adding this mutation to those that have been already characterized, we have now defined the molecular defect in 92% of the WD chromosomes in Sardinians. The high frequency, the expected prevention by preclinical diagnosis and early treatment of the devastating effect of WD on the nervous system and liver tissue, and the feasibility to detect most of molecular defects by DNA analysis indicate that WD in the Sardinian population should be added to the list of diseases currently detected by newborn screening.

5' Untranslated Regions↗
PubMed1996

Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.

This study reports 12 novel mutations of the Wilson disease (WD) gene which have been detected by the molecular analysis of 29 patients of Mediterranean descent carrying uncommon chromosomal haplotypes at the WD locus. These mutations include two nonsense, one splice site and nine missense. The missense mutations lie in regions of the WD gene critical for its function, such as the transmembrane region, the transduction domain and the ATP loop and ATP-binding domain, indicating that they are disease-causing mutations. These new findings improve our knowledge for the role played by functional domains on the ATP7B function.

Albania↗
PubMed1995

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

We analyzed mutations and defined the chromosomal haplotype in 127 patients and Mediterranean descent who were affected by Wilson disease (WD), 39 Sardinians, 49 Italians, 33 Turks, and 6 Albanians. Haplotypes were derived by use of the microsatellite markers D13S301, D13S296, D13S297, and D13S298, which are linked to the WD locus. There were five common haplotypes in Sardinians, three in Italians, and two in Turks, which accounted for 85%, 32%, and 30% of the WD chromosomes, respectively. We identified 16 novel mutations: 8 frameshifts, 7 missense mutations, and 1 splicing defect. In addition, we detected the previously described mutations: 2302insC, 3404delC, Arg1320ter, Gly944-Ser, and His1070Gin. Of the new mutations detected. two, the 1515insT on haplotype I and 2464delC on haplotype XVI, accounted for 6% and 13%, respectively, of the mutations in WD chromosomes in the Sardinian population. Mutations H1070Q, 2302insC, and 2533delA represented 13%, 8%, and 8%, respectively, of the mutations in WD chromosomes in other Mediterranean populations. The remaining mutations were rare and limited to one or two patients from different populations. Thus, WD results from some frequent mutations and many rare defects.

Albania↗
PubMed1994

A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient.

In this paper we report the molecular characterization of a large deletion that removes the entire Factor VIII gene in a severe hemophilia A patient. Accurate DNA analysis of the breakpoint region revealed that a large DNA fragment replaced the 300-kb one, which was removed by the deletion. Pulsed-field gel electrophoresis analysis revealed that the size of the inserted fragment is about 550 kb. In situ hybridization demonstrated that part of the inserted region normally maps to Xq21 and to the tip of the short arm of the Y chromosome (Yp). In our patient this locus is present both in Xq21 and in Xq28, in addition to the Yp, being thus duplicated in the X chromosome. Sequence analysis of the 3' breakpoint suggested that an illegitimate recombination is probably the cause of this complex rearrangement.

Adult↗
PubMed1991

Molecular study in von Recklinghausen neurofibromatosis (NF1).

The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17 and various DNA markers have been identified in this region. We have performed a genetic analysis using an anonymous DNA marker, HHH202 (D17S33), tightly linked to the NF1 gene in seven NF1 Italian families. Only one family was fully informative for the HHH202/RsaI polymorphism. In this family this marker can be used for presymptomatic and prenatal diagnosis. However, it is necessary to use additional flanking markers in order to increase informativeness and to obtain better diagnostic accuracy.

Female↗
PubMed1990

Geno- and phenotypic characterization of the de novo arising colon carcinoma in familial polyposis coli.

De novo origin of colon carcinomas has been demonstrated in a case of familial polyposis. Independent origin of the polyps and the synchronous carcinomas was confirmed by their different pheno- and genotypes. Characterization of the phenotype was based on the mucin profile of the polyps and the synchronous carcinoma. The phenotype of each polyp was different and represented either duodenal, colonic or embryonal type of differentiation. The phenotype of carcinoma proved to be adult colonic type. The DNA content of the polyps and carcinoma has been evaluated by cytophotometry. The multiclonal origin of each polyps and synchronous carcinomas has been supported by their different DNA indices. Occurrence of de novo arising carcinoma in familial polyposis calls for a frequent follow-up examination of patients with subtotal colectomy and strongly support the need for total colectomy.

Adenomatous Polyposis Coli↗
PubMed1990

[The presence of nucleotide sequences of the hepatitis B virus in the serum of HBsAg-negative blood donors in Sardinia].

The presence of HBV DNA was assessed in the serum samples from 878 HBsAg negative Sardinian blood donors. They were composed of 481 (55%) donors selected because of abnormal serum alanine aminotransferase (ALT) levels during routine testing of their blood donation, and of 397 donors (45%) selected on the basis of normal serum ALT activities. HBV DNA sequences were detected in 37 (7.7%) out of 481 subjects with abnormal ALT and in 2 (0.5%) out of 397 subjects with normal ALT. Anti-HBc was detected in 199 (41%) of the 481 subjects with abnormal ALT and in 81 (20%) out of 397 subjects with normal ALT. Among the 39 subjects positive for serum HBV DNA, 12 (31%) were positive for anti-HBc, while 27 (69%) were negative for all serological HBV markers. These data show in Sardinia, where HBV infection is endemic, there is a high frequency of HBsAg negative HBV DNA positive individuals in whom multiplication of HBV may occur without conventional serological HBV markers, suggesting the possible existence of HBV-like viruses which may be responsible for some of the presumed non-A non-B hepatitis.

Adult↗
PubMed1990

Ocular findings in beta-thalassemia.

Eye examination was performed in a series of 53 patients whose mean age was 19.5 years (range from 11 to 25 years), affected from Cooley's disease, in treatment with transfusions and desferrioxamine in subcutaneous infusion. The most frequent ocular change was fundus mottling appearance like "leopard skin" (15%). We found also lens opacity (11%), drusen (7%), retinal venous tortuosity (5%), without impairment of visual acuity. The pathogenic factors of the ocular change are related to abnormality of iron metabolism. These results suggest that the involvement of desferrioxamine to remove iron from the eyeball is relatively small.

Adolescent↗
PubMed1989

Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. We confirmed a tight linkage [theta = 0.00, Z (theta) = 4.07] between the WND and ESD loci, and provided suggestive evidence for linkage [theta = 0.00, Z(theta) = 1.85] of the WND locus with D13S10. Multipoint linkage analysis indicated the following order: centromere-D13S1-D13S10-WND-ESD-D13S2. RFLP analysis at these two loci in our families allowed us either to define the carrier status (50%) or to exclude the homozygous state (25%) in the great majority of unaffected sibs.

Chromosomes, Human, Pair 13↗
PubMed1989

[The presence of nucleotide sequences of the hepatitis B virus in peripheral lymphocytes of patients with acute hepatitis B].

Hepatitis B virus (HBV) DNA sequences were assessed in 26 patients with acute type B hepatitis, using dot-blot hybridization technique from peripheral blood mononuclear cells (PBMC), during different phases of the illness. At clinical presentation, 15% of patients showed HBV-DNA sequences in PBMC, while serum HBV-DNA was detected in 58% of patients. During clinical improvement 50% of patients had HBV-DNA in PBMC but only 11.5% were positive for serum HBV-DNA. Twenty-three (88.5%) patients recovered and cleared HBV-DNA from serum and from PBMC; three (11.5%) patients with acute hepatitis progressing to chronicity showed persistently HBV-DNA sequences in serum and in PBMC. In conclusion, our study shows that HBV-DNA sequences may be found in PBMC, transiently in patients with acute hepatitis followed by recovery, persistently in patients with acute hepatitis progressing to chronicity.

Acute Disease↗
PubMed1989

[Echocardiographic study at rest and during effort in adult asymptomatic thalassemic patients].

An echocardiographic study was performed in 21 young patients with thalassemia major (TM, age 16-22 years), with no cardiac symptoms, and in 24 age-matched normals (N) at rest and during sitting bicycle exercise (EX). All TM were receiving blood transfusions regularly to maintain hemoglobin level above 11 g/dl and subcutaneous infusion of desferrioxamine (40 mg/Kg/day) to reduce hemosiderosis. At rest, in comparison to N, TM showed a significant increase in LV end-diastolic dimension (EDD), septal, posterior wall thickness and mass, whereas wall thickness to EDD ratio and LV fractional shortening (FS) were not different. Stress echocardiography was recorded with success in 90% of TM and 83% of N. During EX, FS increased progressively with increase of heart rate in both groups, though the increase of FS was lower in TM. Thus, asymptomatic young patients with thalassemia major, under well transfusion-chelation therapy, showed cardiac changes from volume overload. LV systolic function, normal at rest, was moderately impaired during exercise test.

Adolescent↗
PubMed1989

Hepatitis B virus DNA in the serum of Sardinian blood donors negative for the hepatitis B surface antigen.

The high endemicity of hepatitis B virus (HBV) infection and liver disease in Sardinia led us to assess the occurrence of HBV DNA in 1,411 sera of two selected groups of hepatitis B surface antigen (HBsAg)-negative blood donors: 793 with abnormal serum alanine aminotransferase (ALT) and 618 with normal serum ALT values (determined during routine testing of their blood donation). HBV DNA sequences were detected by dot-blot hybridization in 68 of 793 subjects (9%) with abnormal ALT but only in three of 618 subjects (0.5%) with normal ALT. HBV-core antibody (anti-HBc) was detected in 338 of 793 subjects (43%) with abnormal ALT as well as in 125 of 618 subjects (20.2%) with normal ALT. Among the 71 subjects positive for serum HBV DNA, 22 (31%) were positive for anti-HBc, while 49 (69%) were negative for all serologic markers of HBV infection. Thus, a high frequency of anti-HBc in apparently healthy HBsAg-negative individuals and a high prevalence of serum HBV DNA in the absence of immunologic markers of HBV infection suggest the existence of genetic variants of HBV that may be responsible for some of the presumed NANB hepatitis encountered in Sardinia and possibly other areas of high endemicity for HBV.

Adolescent↗
PubMed1988

Beta thalassaemia mutations in Turkish Cypriots.

Using oligonucleotide hybridisation or restriction endonuclease analysis, we have characterised the molecular defect in 94 patients with thalassaemia major and four with thalassaemia intermedia of Turkish Cypriot descent. We found that four mutations, namely beta+ IVS-1 nt 110, beta zero IVS-1 nt, beta+ IVS-1 nt 6, and beta+ IVS-2 nt 745 were prevalent, accounting for 69.9%, 11.7%, 8.7%, and 5.6% respectively of the beta thalassaemia chromosomes. This information may help in the organisation of a large scale prevention programme based on fetal diagnosis of beta thalassaemia by DNA analysis in the Turkish population.

Cyprus↗