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J Fiedorowicz

Publications and source records attributed to J Fiedorowicz.

14 recordsLinked to original sources
PubMed2003

Increased risk of breast cancer in relatives of malignant melanoma patients from families with strong cancer familial aggregation.

The aim of this study was to evaluate the risk of occurrence of malignancies of different site of origin in patients with malignant melanoma (MM) of the skin and their first-degree relatives from families with cancer familial aggregations with unknown pathogenetic background (CFA). We analysed tumour spectrum and age at diagnosis of malignancies in 51 families with MM/CFA. In addition, we evaluated observed frequency (OF); expected frequency (EF); and relative risk (RR) of occurrence of malignancies in these families. In all cases peripheral blood examination of common Polish founder BRCA1 mutations was performed. In 25 families, we analysed loss of heterozygosity of BRCA1 and BRCA2 genes. We identified two subgroups of cases: 22 MM/CFA families with MM diagnosed before 55 years (< or =55 MM/CFA) and 29 MM/CFA families with MM diagnosed after 55 (>55 MM/CFA). In these families we observed increased proportion of breast cancers: 17.52% in the first subgroup (mean age of diagnosis 48.5) and 12.15% in the second subgroup. The odds ratio for breast tumours occurring before 50 in < or =55 MM/CFA families was 3.71. We also observed increased numbers of liver cancers, CSU and leukaemias. OF and EF analyses revealed increased risk of occurrence of cancers of breast (OF 10.4%, EF 4.5%) and liver (OF 1.9%, EF 0.8%) in women from MM/CFA families, RR for breast tumours was approximately 3.3 in < or =55 MM/CFA families. Molecular examination of MM/CFA families revealed no alterations within the BRCA2 gene and one germline mutation of the BRCA1 gene. In conclusion, it seems to be justified to consider systematic breast surveillance beginning at the age around 35-40 years as an option in women from < or =55 MM/CFA families.

Adult↗
PubMed1998

Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.

Junctional epidermolysis bullosa is a heritable, heterogeneous blistering skin disease with mechanically induced dermal-epidermal separation, mild skin atrophy, nail dystrophy, and alopecia. Four unrelated junctional epidermolysis bullosa families with different phenotypes were investigated here and four novel mutations associated with the disease were identified. Patients 1, 2, and 3 had generalized atrophic benign epidermolysis bullosa, with nonscarring blistering and varying degree of alopecia. Patient 4 had the localisata variant of junctional epidermolysis bullosa, with predominantly acral blistering and normal hair. All patients had mutations in the COL17A1 gene encoding collagen XVII, a hemidesmosomal transmembrane protein. Patients 1 and 2 carried homozygous deletions 520delAG and 2965delG, respectively. Patient 3 was compound heterozygous for a missense and a deletion mutation (G539E and 2666delTT), and patient 4 was heterozygous for a known mutation R1226X. The deletions led to premature termination codons and to drastically reduced collagen XVII mRNA and protein levels, consistent with the absence of the collagen in generalized atrophic benign epidermolysis bullosa skin. The missense mutation G539E allowed synthesis of immunoreactive collagen XVII in keratinocytes, but prevented its secretion, thus causing lack of the protein in the skin. The data suggest that different COL17A1 mutations and their combinations can result in a spectrum of biologic and clinical phenotypes of not only generalized atrophic benign epidermolysis bullosa, but also localized junctional epidermolysis bullosa.

Aged↗
PubMedDate not supplied

[20-year cooperation between the I Department of Internal medicine of the District Hospital and the Department of Pathological Anatomy, Medical Academy, in Białystok (analysis of diagnostic consistency)].

Statistical analysis of 1421 deaths (98% of all who had died at the Ward) of patients during 1965-1984 was performed. The material was divided into 3 groups according to the age: up to 59 years, from 60 to 69 and over 70 years. Among those who had died men prevailed (55.1%), but both among women and men the age was over 70 years. In the 2nd decade of the analysed period the authors found gradual increase of death percentage among elderly people, that can be ascribed to "geriatrization" of the Ward and higher accessibility to the hospital for this group of patients. Statistical analysis which included a 10-year period (1975-1984) dealt with the causes of deaths according to the clinical and pathological recognition. There dominated deaths of cardiovascular diseases (59.4%), twice increased the percent of deaths due to neoplasia and diabetes complications. On the other hand, the proportion of decreased of heart infarction fell (from 33% to 16.9%) as did of cardiac defects (from 9.5% to 5.9%). This decrease was the effect of hospital structure changes, i.e.a creation of the Ward of Cardiology and Intensive Cardiological Care in 1981. During 1981-1984 the proportion of deaths of complications of arterial hypertension, mainly in the persons at very old age, increased threefold. In this group of age there dominated deaths of cardiac infarction and circulatory insufficiency. The authors made an analysis of the conformability of clinical diagnosis and the results of autopsy. Out of 1421 deaths in 1149 cases (80.8%) the results of autopsy fully agreed with clinical diagnosis. As partially conformable the clinical diagnosis was in 15.5%, and divergent in 3.7% of cases. The latter, according to the authors, resulted from an incomplete or unproper interpretation of diseases symptoms influenced by several objective factors. As could be expected, the highest proportion of divergent diagnosis was found in the group of the eldest patients afflicted with cardiovascular and malignant diseases.

Diagnostic Services↗