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Biomedical subjects

K Cefle

Publications and source records attributed to K Cefle.

13 recordsLinked to original sources
PubMed2007

Monitoring the genotoxic effects of radiosynovectomy with Re-186 in paediatric age group undergoing therapy for haemophilic synovitis.

PURPOSE: The aim of this study was to investigate the genotoxic effect on the peripheral blood lymphocytes potentially induced by Re-186 in paediatric age group undergoing radiosynovectomy for haemophilic synovitis, by using chromosomal aberration analysis (CA) and the micronuclei (MN) assay for detecting chromosomal aberrations, as well as the sister chromatid exchanges (SCE) technique for assessing DNA damage. METHODS: Cytogenetic analyses were evaluated in 20 boys (mean age: 13.8 +/- 2.7 years) before, and 2 and 90 days after radiosynovectomy from the peripheral lymphocytes of the patients. Joint retention and extra-articular spread of the radionuclides were evaluated by using quantitative gamma camera imaging. RESULTS: Imaging after radiosynovectomy revealed local lymph node visualization in 8 (40%) patients and hepatosplenic visualization in 3 (15%) patients due to extra-articular leakage of radioactive material. The mean frequency of chromosome aberrations (0.2 +/- 0.4/1000 cells) determined prior to the onset of therapy was not significantly increased in comparison with control values obtained 2 days (0.4 +/- 0.5/1000 cells) and 90 days (0.2 +/- 0.4/1000 cells) after therapy (P = 0.754 and P = 1.0). In the analysis of MN and SCE, when we compare the baseline levels, the mean MN and SCE frequencies were slightly higher in the control analyses performed 2 and 90 days after radiosynovectomy but there were no significant differences between baseline and control levels (chi(2) = 2.621, P = 0.270 and F = 0.573, P = 0.569, respectively). CONCLUSION: The major finding of this study with relatively small sample is that, radiosynovectomy with Re-186 does not seem to induce early genotoxic effects on the peripheral blood lymphocytes in paediatric age group.

Adolescent↗
PubMed2006

A case of progressive pseudorheumatoid arthropathy of 'childhood' with the diagnosis delayed to the fifth decade.

Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare single gene disorder which is frequently misdiagnosed as juvenile rheumatoid arthritis. It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. Clinical and laboratory signs of joint inflammation such as synovitis, a high erythrocyte sedimentation rate and an elevated C-reactive protein level are usually absent. Although the disease begins early in life (usually between 3 and 8 years of age), the diagnosis may be delayed. In the present case report, we describe a male patient diagnosed with PPAC at the age of 46 years, although he had been exhibiting the typical radiological and clinical features of the disease since the age of 7 years.

Arthralgia↗
PubMed2004

A case of mandibuloacral dysplasia presenting with features of scleroderma.

Juvenile scleroderma, a relatively rare condition, may be confused with a number of progeroid syndromes like Hutchinson-Gilford syndrome, Werner syndrome and Rothmund-Thomson syndrome. In this case report, we describe a 9-year-old boy who presented with sclerodactyly, acroosteolysis and scleroderma-like involvement of the skin over hands and feet, which suggested a diagnosis of juvenile scleroderma initially. However, absence of Raynaud's phenomenon, sparing of the skin other than hands and feet and negative serological studies did not support this diagnosis. On the basis of additional findings (micrognathia, dental malformation, a 'beaked nose', open cranial sutures and sparse hair), the patient was diagnosed as mandibuloacral dysplasia, a rare autosomal recessive disease. This case demonstrates that mandibuloacral dysplasia should be considered in the differential diagnosis of juvenile scleroderma in the presence of atypical features such as negative serological studies, absence of Raynaud's phenomenon, sparse hair and micrognathia.

Acro-Osteolysis↗
PubMed2003

Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.

Alkaptonuria (AKU) is a rare metabolic disorder of phenylalanine catabolism that is inherited as an autosomal recessive trait. AKU is caused by loss-of-function mutations in the homogentisate 1,2-dioxygenase (HGO) gene. The deficiency of homogentisate 1,2-dioxygenase activity causes homogentisic aciduria, ochronosis and arthritis. We present the first molecular study of the HGO gene in Turkish AKU patients. Seven unrelated AKU families from different regions in Turkey were analysed. Patients in three families were homozygous for the R58fs mutation; another three families were homozygous for the R225H mutation; and one family was homozygous for the G270R mutation. Analysis of nine intragenic HGO polymorphisms showed that the R58fs, R225H and G270R Turkish AKU mutations are associated with specific HGO haplotypes. The comparison with previously reported haplotypes associated with these mutations from other populations revealed that the R225H is a recurrent mutation in Turkey, whereas G270R most likely has a Slovak origin. Most interestingly, these analyses showed that the Turkish R58fs mutation shares an HGO haplotype with the R58fs mutation found in Finland, Slovakia and India, suggesting that R58fs is an old AKU mutation that probably originated in central Asia and spread throughout Europe and Anatolia during human migrations.

Adolescent↗
PubMed2002

Chronic renal failure in a patient with Sotos syndrome due to autosomal dominant polycystic kidney disease.

Sotos syndrome is characterised by accelerated growth, acromegalic appearance, mental retardation and social maladjustment. Most cases are sporadic, but familial cases have also been reported. We report a case of Sotos syndrome presenting with chronic renal failure due to autosomal dominant polycystic kidney disease (ADPKD). Ultrasonographic examination of the patient, his father and other family members revealed polycystic kidneys. Renal failure was present only in the Sotos case, who also had considerably larger cysts than other family members. We suggest that the underlying mechanism responsible from the somatic overgrowth in Sotos syndrome may also be linked with the development of larger cysts and earlier onset of renal failure in ADPKD. Although Sotos syndrome has been associated with urological abnormalities, chronic renal failure is very rare. To our knowledge, Sotos syndrome associated with ADPKD has not been reported before.

Adult↗
PubMed2000

Sister chromatid exchange frequency in B-cells stimulated by TPA in chronic lymphocytic leukemia.

Chronic lymphocytic leukemia (CLL) is characterised by the clonal proliferation and accumulation of neoplastic B-lymphocytes. The median age of the patients is 65 years, and more men than women are affected. The overwhelming majority of CLLs are of B-cell origin. Chromosomal aberrations have been detected in more than 50% of the B-cells obtained from peripheral blood samples after appropriate stimulation with polyclonal B-cell mitogens. The analysis of sister chromatid exchange is a cytogenetic technique used to show DNA damage due to an exchange of DNA fragments between sister chromatids. In this study, lymphocytes from 22 patients with CLL-B (7 female, 15 male; mean age 64.09 +/- 7.56 years) were stimulated by a B-cell mitogen (TPA) and BrdU added at the 24 h of the culture. Metaphase chromosomes were stained with a fluorescence plus Giemsa technique after a standard harvest procedure. The frequency of sister chromatid exchange was found to be increased significantly P =.02) in patients with CLL-B (8.24 +/- 1.36 per metaphase) compared to controls (7.25 +/- 1.42 per metaphase). We conclude that the increased frequency of sister chromatid exchange in chronic lymphocytic leukemia after stimulation with a B-cell mitogen (TPA) may reflect DNA instability and defective DNA repair in these patients.

Aged↗
PubMed2000

A case of Noonan syndrome with pulmonary and abdominal lymphangiectasia.

Noonan syndrome is characterised by a Turner-like phenotype and a normal karyotype. Although it is reported to be associated with abnormalities of the lymphatic system, involvement of the pulmonary lymphatics is rare. We present a case of Noonan syndrome where a whole body scintigraphy revealed lymphangiectasia of the lower extremities, abdomen and lungs.

Abdomen↗
PubMed1999

Genotoxic potential of cyclosporin A in patients with renal transplantation.

We analyzed the induction of sister chromatid exchange (SCE) by cyclosporin A (CsA) as a marker of genotoxic potential. In 30 patients undergoing renal transplantation, SCE induction was tested before the introduction of CsA and 3 months later. We found that SCE frequency increased significantly at the end of 3 months. To our knowledge, this is the first study demonstrating in vivo induction of SCE by CsA in humans. We conclude that CsA has a genotoxic potential on human lymphocytes.

Adolescent↗
PubMed1998

47,XYY karyotype in acute myeloid leukemia.

A case of acute myelomonocytic leukemia (AMMoL; M4) with a 47,XYY karyotype is reported. This chromosome aneuploidy was found in both bone marrow cells and mitogen-stimulated lymphocytes. The contribution of XYY chromosomal constitution in the pathogenesis of AMMoL is controversial.

Humans↗
PubMed1998

An unusual translocation between 12tel and 14q11 in a large kindred.

In one couple investigated because of recurrent abortions, the female was found to have an unusual translocation between the long arm of the telomeric region of chromosome 12 and the long arm of the chromosome 14 at band q11. We studied ten additional members of the family who were under the risk of the same chromosomal rearrangement, and four of them were found to be carriers. The diagnosis of this translocation was determined using different banding techniques and FISH. The karyotype was found to be 45,XX,t(12;14)(qtel;q11).

Abortion, Habitual↗