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Loss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal-dominant skeletal disorder, cleidocranial dysplasia (CCD). Clinical spectrum and genetic findings in 51 CCD patients from 30 unrelated families are herein presented. In a majority of the patients, facial abnormalities, such as delayed fontanel closure (89%), parietal and frontal bossing (80%), metopic groove (77%), midface hypoplasia (94%), and abnormal mobility of shoulders (90%), were recorded following clinical examination. In approximately one-half of the subjects, wormian bone (51%), short stature (43%), bell-shaped thorax (42%), wide pubic symphysis (50%), hypoplastic iliac wing (59%), and chef's hat sign (44%) presented in available radiological examinations. Scoliosis was identified in 28% of the patients. Investigation of RUNX2 revealed small sequence alterations in 90% and gross deletions in 10% of the patients; collectively, 23 variants including 11 novel changes (c.29_30insT, c.203delAinsCG, c.423 + 2delT, c.443_454delTACCAGATGGGAinsG, c.505C > T, c.594_595delCTinsG, c.636_637insC, c.685 + 5G > A, c.1088G > T, c.1281delC, Exon 6-9 deletion) presented high allelic heterogeneity. Novel c.29_30insT is unique in affecting the P1-driven long isoform of RUNX2, which is expected to disrupt the N-terminal region of RUNX2; this was shown in two unrelated phenotypically discordant patients. The clinical findings highlighted mild intra-familial genotype-phenotype correlation in our CCD cohort.

Myeloid/lymphoid neoplasm is a rare malignancy with an aggressive course and rapid transformation to acute myeloid leukemia (AML), or less frequently to acute lymphoblastic leukemia (ALL). Cases with t(8;22)(p11;q11) BCR-FGFR1 fusion gene may be misdiagnosed with chronic myeloid leukemia (CML), due to a very similar morphologic and clinical profile. We report a case of 48-year-old woman who complained of weakness and gastric pain. She had splenomegaly, eosinophilia, and elevated white blood cells. Bone marrow (BM) aspiration biopsy was performed with an initial diagnosis of CML. Cytogenetic analysis of the BM showed a 46,XX,t(8;22)(p11.2;q11.2). She was diagnosed with myeloid/lymphoid neoplasm with eosinophilia and rearrangement of FGFR1 gene. Throughout the chronic phase, the patient was treated with hydroxurea. Additional chromosomal abnormalities developed during therapy. Owing to the (8;22) clone, our patient did not respond to the treatment and rapidly transformed first to B-ALL and then AML. To the best of our knowledge, this is the first MPN patient with rearrangement of BCR and FGFR1 genes with rapid transformation to B-ALL and then to AML. WOS:000606311500003 Q4

The alpha-actinin (ACTN) genes are important structural components of the sarcomere. Sarcopenia is a common geriatric syndrome characterized by morbidity and mortality. Our study aimed to examine the relationship between the ACTN3 R577X gene and sarcopenia in community-dwelling Turkish adults. We designed a cross-sectional study among the patients aged ≥ 65 years admitted to the geriatric outpatient clinic. We recorded the general characteristics of the patients. We used the Jamar hand dynamometer to evaluate handgrip strength. Body composition was estimated using bioimpedance analysis. Sarcopenia was diagnosed according to the European Working Group on Sarcopenia in Older People2 criteria with population-specific cutoffs. We performed analyses of low muscle mass (LMM) with skeletal muscle mass index adjusted for body mass index [SMMI(BMI)]. We further categorized the SMMI(BMI) cutoffs into tenths. The analyzes were performed according to the 90th percentile SMMI(BMI) cutoffs. Peripheral blood samples were collected to determine the ACTN3 genotypes. 197 participants were included [mean age: 76.3 ± 6.1 years, 151 (76.6%) women]. The proportions of the ACTN3 genotypes were as follows: RX (45.1%) > RR (31%) > XX (23.9%). The significant difference between genotypes was found only for low SMMI(BMI) according to the 90th percentile (p = 0.025). In multivariate analysis, only gender (female) was independently associated with LMM. We did not find any association between ACTN3 R577X gene polymorphism and probable sarcopenia, confirmed sarcopenia and LMM. Besides, much more research is needed to reveal how ethnicity affects the muscles of older adults with ACTN3 R577X gene polymorphism.

Infertility is an important health problem affecting 15% of couples worldwide. Intellectual disability (ID) is characterized with significant impairment of intellectual function, adaptive daily life skills and social skills. Insertion is a rare chromosomal rearrangement causing infertility and ID. Here, we report a 39-year-old man presenting with primary infertility and mild ID. The patient’s spermiogram was consistent with azoospermia. Conventional cytogenetic analysis showed a novel inversion/insertion type of chromosomal aberration involving chromosomes 18 and 2: 46, XY, inv ins(18;2)(q11.2;q13q22). We carried out the array comparative genomic hybridization analysis to confirm the cytogenetic findings. Y micro-deletion analysis demonstrated that the AZF region as intact. We suggest that the novel insertion found in this case [46, XY, inv ins(18;2)(q11.2;q13q22)] may have caused infertility and mild ID in our patient. To the best of our knowledge, this chromosomal insertion has not previously been reported.

Background: In oral and maxillofacial surgery, synthetic bone grafts are most widely used as bone substitutes, due to the limited sources of autologous bone. The aim of this study was to examine the influence of three different synthetic bone grafts (Cerasorb, Fortoss and Perioglass) on sisters chromatide exchanges (SCEs) in peripheral lymphocytes. Materials and Methods: Peripheral blood samples taken from 68 patients (45 females and 23 males), who underwent oral surgery procedures, such as apical resection, cyst enucleation or periodontal curretage, were obtained for SCE a day before and two months after the surgeries. A control group included 30 patients, while the study group was made of the patients who underwent bone grafting with Cerasorb ® (11 patients), Fortoss ® VITAL (10 patients) or Perioglass ® (17 patients). Results: Comparing with the results of the study group before and after the treatment, it was concluded that the results were statistically significant (p = 0.001). In the Perioglass ® subgroup, a greater statistical significance (p = 0.003) was noted, than that in either the Cerasorb ® (p = 0.620) or Fortoss ® (p = 0.210) subgroups, in which there was no statistical significance. Conclusions: Although further investigations may be necessary, our results suggest that the synthetic bone grafts might have an influence on SCE in peripheral lymphocytes.

Polymorphisms of the x-ray repair cross-complementing group 1 (XRCC1) gene have been reported to be associated with various forms of cancer. We evaluated the possible effects of the Arg194Trp and the Arg399Gln polymorphisms on the risk for chronic lymphocytic leukemia (CLL) in 73 patients and 50 controls. We also analyzed their relation to frequency of sister chromatid exchange (SCE). With respect to codon 194, the allelic frequency of the Arg194Trp polymorphism did not significantly differ between the 2 groups. The proportion of individuals carrying the Arg194Trp polymorphism was not different in the 2 groups. With respect to codon 399, the proportion of the individuals carrying the Arg399Gln allele (90% vs 62%; p=0.000; odds ratio [OR], 5.779; 95% confidence interval [CI], 2.2-15.183) and the allelic frequency of the Arg399Gln polymorphism (56% vs 36%; p=0.002; OR, 2.278; 95% CI, 1.350-3.843) was significantly higher in the patient group. The frequency of the Arg/Gln genotype was significantly higher in the patient group (68.50% vs 52%; p=0.049; OR, 2.007; 95% CI, 0.955-4.217). The mean SCE frequency in the patient group was significantly higher (9.2±4 vs 7.5±2; p=0.02). When different compound genotypes were compared, the coexistence of Arg/Arg genotype in codon 194 with Arg/Arg genotype in codon 399 was significantly more frequent in the control group (30% vs 9%; p=0.004; OR, 0.247; 95% CI, 0.092-0.664). Within the patient group, SCE frequency did not differ between patients with various genotypes. The Arg399Gln polymorphism may be etiologically associated with CLL; however, it does not seem to increase SCE frequency.

Hereditary Gingival Fibromatosis (HGF) is a rare, benign disorder characterized by slowly progressive fibrous overgrowth of the gingiva. HGF occurs in several forms as a Mendelian trait (usually as an autosomal dominant condition), in malformation syndromes, in chromosomal abnormality syndromes and side effect of several pharmacological agents. Except Son of sevenless-1 (SOS1) gene mutation, molecular basis of HGF is unclear. Here, we reported the cytogenetic and SOS1 gene mutation analysis in a Turkish family with 7 affected members through three generations, whose features are consistent with the diagnosis of autosomal dominant, isolated hereditary gingival fibromatosis. To the best of our knowledge this is the first large Turkish family with hereditary gingival fibromatosis. In this study, we excluded the chromosomal abnormalities and the mutation in SOS1 gene at this family.

Loss of heterozygosity (LOH) in a chromosomal location indicates the presence of an inactivated tumor suppressor gene (TSG). Inactivation of TSG has a functional role in the tumorigenesis of head and neck squamous cell carcinoma (HNSCC). Based on the recent evidences of a putative TSG on chromosome 14, we examined LOH on chromosome 14q using eight polymorphic microsatellite markers in 50 cases of HNSCCs. Three regions were detected to have a high LOH rate which included 14q21.2-22.3 (42.5%), 14q31 (55%), and 14q32.1 (37%). The correlation between LOH and clinicopathological findings was investigated through statistical analyses. A strong correlation was observed between the highest LOH marker and the overall and disease-free survival. The results suggest that the distal part of chromosome 14 may host a TSG that may lead to the development and/or progression of HNSCCs. Several genes such as CHES1, BMP4, SAV, and PNN have arisen as candidate tumor suppressors in the region.

The aim of this study was to investigate the genotoxic effect on the peripheral blood lymphocytes potentially induced by yttrium-90 citrate colloid (Y-90) in children who were undergoing radiosynovectomy for hemophilic synovitis, using chromosomal aberration analysis (CA) and the micronuclei (MN) assay for detecting chromosomal aberrations, as well as the sister chromatid exchanges (SCE) technique for assessed DNA damage.Cytogenetic analyses were undertaken in 18 boys (mean age, 14.5 +/- 2.1 years) with hemophilic synovitis who underwent radiosynovectomy with Y-90. CA, MN, and SCE were evaluated just prior to, then at 2 and 90 days following radiosynovectomy from the peripheral lymphocytes of the children. An activity of 185 MBq of Y-90 was injected into the 18 knee joints under aseptic conditions. To check the possibility of leakage from the joint and its migration within the body, the patients underwent scanning under a dual-headed gamma camera at the hours 2 and 48 following the procedure.The procedure was well tolerated in all the children, and there was no extra-articular activity owing to extra-articular leakage of radioactive material in whole-body imaging. The mean frequency of CA in lymphocytes determined prior to the onset of therapy (0.31 +/- 0.48/900 cells) was not significantly increased, in comparison to the control values obtained 2 (0.30 +/- 0.48/900 cells) and 90 days (0.15 +/- 0.37/900 cells) after radiosynovectomy (p = 1.0 and 0.625, respectively). We observed that MN frequency was mildly increased in lymphocytes 2 days after therapy (8.30 +/- 1.89 MN/1000 binucleated cells vs. 9.23 +/- 1.79 MN/1000 binucleated cells; p = 0.013). But there was no significant difference between the baseline and the day 90 control levels of MN (p = 0.196). In the analysis of SCE frequency, there were no significant differences between the baseline (8.11 +/- 0.77) and the control analysis performed 2 and 90 days following radiosynovectomy (8.18 +/- 0.77 and 8.07 +/- 0.74; p = 0.710 and 0.662, respectively).The results of this study indicated that high radiation doses are not obtained by peripheral lymphocytes of children who undergo Y-90 radiosynovectomy and, therefore, they contradict a high cancer risk.

Summary. 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 (χ2 = 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.

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.

Myelodysplastic syndrome (MDS) with erythroid hypoplasia, a rare form of MDS, has not yet been clearly defined. We report here a 20-year-old woman with severe transfusion-dependent anemia and reticulocytopenia. White blood cells and platelet counts were normal. Bone marrow examination showed a low percentage of erythroid precursors (6%) and a marked dyserythropoiesis and dysmegakaryopoiesis. A diagnosis of MDS (refractory anemia according to the FAB classification) with erythroid hypoplasia was made. Cytogenetic analysis of the bone marrow and peripheral blood revealed a 46,XX,t(3;14)(p21.1;q24.1) translocation, which was confirmed by fluorescence in situ hybridization analysis. This translocation was detected in the apparently healthy younger brother, father, and aunt (father's sister) of the patient. Clonality of T cells in the patient was not confirmed by the polymerase chain reaction and heteroduplex temperature-gradient gel electrophoresis. IgM serology for B19 parvovirus was negative. Other conditions known to be associated with erythroid hypoplasia, such as thymoma, were not present. The patient failed to respond to immunosuppressive therapy (antithymocyte globulin and cyclosporin A). Administration of recombinant human erythropoietin improved her anemia. To our knowledge, this balanced translocation, namely t(3;14)(p21.1;q24.1), which is present both in the patient with MDS with erythroid hypoplasia and in the healthy members of the family, has not been defined previously.

This report describes a new subgroup of familial visceral myopathy. Three patients from within this family were admitted to the hospital with pseudo-obstruction. Barium x-ray, abdominal plain film, esophageal manometry, colonoscopy, gastroscopy, and echocardiography were performed in all siblings for diagnostic evaluation. Two of our patients had surgery because of suspicion of acute abdomen. In one of them, full-thickness biopsy, which was performed during laparotomy, revealed findings that were compatible with familial visceral myopathy. Three siblings from this family with visceral myopathy, in which the parents were consanguineous, had megaduodenum, long-segment Barrett's esophagus, and different cardiac abnormalities.

It is impossible to mimic mammalian tissues by classical two-dimensional (2D) techniques. In this study, it is aimed to take advantage of self-assembly characteristics of cells in physiological conditions to achieve 3D tissues in vitro. Human Osteosarcoma cells (SaOS-2) were co-cultured with human umbilical vein endothelial cells (HUVEC) and human skin fibroblast cells (Detroit) were co-cultured with human skin keratinocyte cells (HS2) in agar gels that were formed using 3D Petri Dish® technique, and localization of cells were examined. Affect of cell number on localization was also investigated via using different cell ratios in co-culture systems. The change over time in the size of micro-tissues was determined using ImageJ program. The fluorescence microscope examination revealed that in SaOS-2 - HUVEC co-culture system, cells were localized randomly, and there wasn't any significant effect of cell number on localization pattern. In HS2 - Detroit co-culture system, fibroblasts were localized in the core and the keratinocytes were found on the outer shell, and cell number didn't affect this pattern. In microtissues formed by HS2 - Detroit co-culture, there was a significant increase in size after 72 hours. In the SaOS-2 - HUVEC co-culture, there was a significant reduction between the first and the fifth hours.

Recently, as a part of new stent implantation strategy in order to decrease stent thrombosis, final dilatations with high pressure and/or higher sized balloons were applied after the initial deployment of the stent. In this paper, we presented a case of chronic coronary pseudoaneurysm which occurred after an initially successful stent implantation in the left anterior descending artery, probably due to high pressure final dilatation.

The well-known increased risk of breast cancer (BC) in first-degree relatives of patients with BC has been related to shared genetic factors including defective DNA repair, with loss of genomic integrity. On the other hand, it can be hypothesized that early-onset breast cancer is also associated with overburden of heritable factors leading to increased DNA injury. In this respect, we analyzed sister chromatid exchange frequency (SCE) in 20 women with breast cancer (allor =40 years old), in their first-degree female relatives, and in 20 age-matched healthy females without a personal or family history of cancer. SCE was significantly increased (P0.05) in patients (7.17 +/- 1.81 per metaphase) and in their first-degree relatives (6.44 +/- 0.98), compared with controls (5.85 +/- 0.72). There was no difference in SCE frequency between patients and their first-degree relatives. We suggest that the increased SCE in patients reflects a genomic instability that may be operative in carcinogenesis. Further, genomic instability is shared also by first-degree relatives, although none of them had a history of breast cancer at the time of the study.

Background Reflux nephropathy (RN) has an important place among the etiologies of end-stage renal disease (ESRD). In this retrospective study we sought to analyze posttransplantation complications among renal transplant recipients whose primary disease was RN. Methods Seven hundred forty-five patients who underwent transplantation in our institution between 1983 and 2006 were included in the study. The outcomes of patients with RN (Group 1) were compared with a control group (Group 2) that consisted of age-matched, nondiabetic patients whose primary disease was chronic glomerulonephritis or unknown etiologies. Results Group 1 consisted of 52 patients, including 20 males with a mean overall age of 25 years. Group 2 included 47 patients, including 21 males with a mean age of 27 years. There was no significant difference with regard to age, gender, donor type, donor age, modality of hemodialysis, or HLA match between the 2 groups. Group 1 graft survival rates in the first and fifth years were 95% and 90%, respectively, and in Group 2 they were 86% and 70%, respectively ( P = .302 and P = .072, respectively). There was no significant difference with respect to follow-up duration, hospital stay, or incidence of biopsy-proven or clinically suspected acute rejection episodes between the groups. During the 6-year follow-up, the incidence of biopsy-proven chronic allograft nephropathy was the same in both groups. One patient in Group 1 and 2 in Group 2 died of cardiovascular issues; 1 Group 2 patient died of infection. The frequency of urinary tract infection in Group 1 was greater than that of Group 2 (40% vs, 23%; P = NS). Conclusion Despite the higher incidence of urinary tract infections, there was no significant difference in posttransplantation complications or patient and graft survival rates between RN patients compared with the control group.

We aimed to compare the cytogenetic and molecular analyses in the assessment of imatinib mesylate response in patients suffering the chronic phase of chronic myelocytic leukemia who were refractory to alpha-interferon treatment. A total of 117 patients in the chronic phase of chronic myelocytic leukemia were included. The patients were treated with 400 mg/day imatinib mesylate. Bone marrow samples were obtained for the cytogenetic and molecular analyses. Patients without the Ph chromosome were defined as complete cytogenetic responders. Partial cytogenetic response was determined when the Ph chromosome was detected in 1-35% of the cells. Molecular response was determined by quantitative real-time reverse transcriptase polymerase chain reaction (QR-PCR) and defined as no detection of BCR-ABL mRNA. The frequencies of complete and partial cytogenetic response were 29% (n = 34) and 15% (n = 18), respectively. No cytogenetic response was achieved in 56% (n = 65) of the patients. Molecular response was achieved in 62% (n = 21) and 33% (n = 6) of the complete and partial cytogenetic responders, respectively. All of the 65 patients with no cytogenetic response were also molecular nonresponders. We conclude that there is reasonable agreement between the cytogenetic and molecular analyses. Both methods are complementary in the assessment of response to therapy.

Background: Turner's syndrome (TS), the most frequent congenital anomaly in newborn girls, is associated with various cardiovascular abnormalities, predominantly bicuspid aortic valves and aortic coarctation. The causes of the left ventricular hypertrophy (LVH) and ECG findings associated with TS are unknown. We used echocardiography to assess cardiac structure and function in normotensive patients with TS. Method: Thirty-one patients with TS and 30 healthy women were enrolled in this comparative study. Twelve-lead ECG, 24-hour-ambulatory ECG recording, and echocardiography were performed. Results: With 24-hour-ambulatory ECG recording, the mean heart rate (HR) of TS women was higher than non-TS women. With echocardiographic examination, the interventricular septum diastolic thickness, left ventricle posterior wall diastolic thickness (LVPW), the LV mass index (LVMI), and left atrial diameter index (LADi) were significantly higher in TS women compared with controls. Mitral flow A velocity was significantly higher and the ratio of early to late diastolic filling was significantly lower in TS patients. Conclusion: HR, LV wall thicknesses, LVMI and the LADi are significantly increased in normohypertensive TS women. There is also subclinical diastolic dysfunction in these patients.

Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop various malignancies. The greatly increased frequency of sister chromatid exchanges (reciprocal exchange of homologous segments between the two sister chromatids of a chromosome) is regarded as pathognomonic for BS. We describe an 18-year old girl who presented with short stature. She was diagnosed with BS based on an extremely increased frequency of sister chromatid exchanges. Ophthalmological examination revealed mild lens opacities bilaterally, which, to our knowledge, has not been previously reported to be associated with BS.

Inflammatory pseudotumor (IPT) is a rare tumor that occurs in various organs and tissues. The clinical picture varies from the more frequent benign lesions to the rare malignant tumors with distant metastases. IPT associated with hematopoietic stem cell transplantation (HSCT) is rarely reported. In this article, we review the reports of IPT after HSCT and describe the first case of bladder IPT. We also review the possible factors involved in the pathogenesis. IPT might be rare but it is a potentially serious complication of HSCT. It should be considered in patients with otherwise unexplained inflammatory symptoms or signs or with any mass lesion in the post-HSCT period. A knowledge of this entity and insistence on a definitive biopsy of mass lesions in the post-HSCT period can avoid unnecessary treatment such as radical surgery, chemotherapy or radiotherapy.

Fifty-six adult patients with newly diagnosed acquired severe aplastic anemia (SAA) received horse antilymphocyte globulin (ALG), cyclosporin A (CyA), methylprednisolone (Mpred), granulocyte colony-stimulating factor (G-CSF) as first-line therapy. The median age was 34 (range, 17-72) and median neutrophil count 0.280 x 10(9)/L. Trilineage hematologic recovery (at a median interval of 105 days from treatment) was seen in 46 patients (37 complete, 9 partial) after one (n = 38) or two (n = 8) courses of ALG. Cytogenetic abnormalities were observed in three unresponders, clonal hematologic disease in three complete responders, and relapse of marrow aplasia in four complete responders. Median follow up for surviving patients was 1,668 days (range, 237-4,012). The actuarial survival at 5 years was 82%, falling to 77.1% at 7 years and was stationary at 7 and 8 years. Survival was not influenced by the neutrophil count (72% vs. 87%, for neutrophils less than vs. greater than 0.2 x 10(9)/L; P = 0.54). Immunosuppressive treatment of SAA with the 4-drug combination appears to be effective. The significant prognostic effect of an enduring increase of the white blood cell (WBC) count during G-CSF treatment may suggest complete and partial response to therapy. In nonresponders, the WBC count either did not change or elevated values gradually returned to nearly their initial levels while the patients were still under G-CSF treatment. In patients not responsive to treatment but living under CyA and G-CSF, the possibility of developing cytogenetic abnormalities does not seem to be low, despite the absence of findings attributable to manifest myelodysplastic syndrome.

Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities, and a characteristic “fetal face” dysmorphology. We report the clinical and molecular studies on two adults with this condition. Besides typical skeletal and facial features, one patient developed hydronephrosis, nephrocalcinosis, and renal failure. The second patient had characteristic skeletal manifestations including severe spinal involvement and showed endocrinological abnormalities including elevated gonadotropic hormones. The facial phenotype in both patients remained distinctive into adulthood. Analysis of the ROR2 gene revealed a homozygous c.1937_1943delACAAGCT mutation in Patient 1, and compound heterozygosity for c.355C > T (p.R119X). and c.550C > T (p.R184C) in Patient 2. © 2005 Wiley-Liss, Inc.

Aim This retrospective report analyzed the demographic features of kidney transplant outpatients grafted in Turkey and in different regions of the world. Methods The patients were divided into 4 groups: 1 functional grafts (n = 432) 2 graft losses (n = 218) 3 deaths (n = 135) 4 lost to follow-up (n = 70) Every cohort was subgrouped as either receiving a cadaveric (CT) or a live donor transplant (LT) performed in our institute (ICT, n = 147, ILT, n = 304), other institutions in Turkey (TCT, n = 16, TLT, n = 86), or in a foreign country (FCT, n = 66, FLT, n = 154). Results Among the patients with functional grafts, FLT transplantations, of which the vast majority were paid transplantations, constituted the second largest group (n = 105) following ILT (n = 214). In the ILT group, 5- and 10-year graft survival rates were 76% and 50%, respectively, and patient survival rates were 88% and 78%, respectively. Considering the FLT group, 5- and 10-year graft survival figures were 70% and 42%, respectively, while patient survival rates in these periods were 81% and 69%, respectively. Patients with paid donor transplantations were characterized by a high risk of unconventional infectious complications in the early period, while midterm patient and graft survival was somewhat better than expected considering the high rate of complications in the early period. Conclusions Paid organ transplantation should be discouraged. Organ donation should be stimulated by every means to avoid potentially fatal unconventional infections after transplantation from paid donors. If patients receive a paid transplant, however, they should be closely followed for these complications, since, if they survive the early period the midterm and long-term outcomes are quite reasonable.

Mandibulo-acral dysplasia (MAD) is a rare condition characterized by mandibular hypoplasia, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and short stature. This report presents a patient with MAD, suffering from difficulty in mastication and speech, together with limited lip closure and aesthetic problems related to the clinical outcomes of the syndrome. The aim of reporting this case is to detail the first widely determined dental and maxillofacial abnormalities of a rare syndrome, mandibulo-acral dysplasia, and to contribute to the data regarding the etiology of consanguinity.

In this study, we aimed to evaluate genotoxicity by sister chromatid exchange frequency in the peripheral lymphocytes of patients with myelodysplastic syndrome (MDS). The study population consisted of 16 patients (females/males:6/10; mean age: 61.68 ± 13.08 years) diagnosed with "refractory anemia" according to FAB classification. The results were compared with an age- and sex-matched control group. The sister chromatid exchange frequency in the study group was found to be significantly higher than the control group (8.3 ± 11 vs. 6.83 ± 1.07, P =0.0046). We suggest that increased DNA damage, which is revealed by the increased sister chromatid exchange in the present study may play a role in the etiopathogenesis of MDS.

This study compares the diagnostic value of troponin T (TnT) and myoglobin with creatinine kinase (CK) for myocardial infarction (MI) in a tertiary care centre in a developing nation. The study group comprised 33 acute myocardial infarction patients and 27 healthy controls. Receiver operating characteristic curves for TnT, myoglobin and CK were drawn and areas under the curve calculated. At admission, myoglobin levels had greater diagnostic sensitivity than TnT or CK levels. After 2 h, myoglobin and TnT had equal sensitivity and specificity, whereas CK still had lower sensitivity than myoglobin and TnT. After 4 h there was no difference between the tests. It was concluded that myoglobin levels on admission and TnT at 2 h had the greatest diagnostic rate, whereas all the tests were similar after 4 h for MI.

A 28-yr old female patient admitted to our clinic because of dyspnea and chest pain. Her transesophageal echocardiography demonstrated a huge mass on the anterolateral wall of the left ventricle causing dysfunction of the myocardium. Coronary angiography demonstrated left anterior descending artery fistula draining into the pericardial cystic mass. Hydatic cyst was suspected and ELISA and hemagglutinin tests were both negative for Echinococcus granulosus. Magnetic resonance image of the heart showed a mass thought to be a hematoma inside the cyst. She underwent surgery. The cystic lesion with a pure hematoma inside, was excised, and the fistula between left anterior descending artery and the mass was ligated without any complications. To our knowledge, this is the first case of a pericardial hematoma due to a coronary artery fistula, in the English literature.

Chronic lymphocytic leukemia (CLL) has been reported to be associated with various chromosomal aberrations, the most common being trisomy 12 and structural rearrangements involving 13q, 11q, and 17p. We present a case of CLL with a constitutional pericentric inversion of chromosome 1.

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.

Common variable immune deficiency (CVID) is characterized by low immunoglobulin levels and recurrent infections in patients with a period of normal immune function several years after birth. It is associated with diarrhea, malabsorption, bronchiectasis, and lymphoreticular malignancies. Radiation-induced chromosome instability may contribute to the high degree of susceptibility to neoplasia. Peripheral blood lymphocyte cultures were obtained from six patients with CVID and the healthy control group matched by age and sex. The groups did not differ in the frequency of spontaneous chromosome aberrations. After exposure to X-ray radiation, mitotic indices were found to be significantly low and incidence of chromosomal alterations were high in the CVID group. We conclude that chromosomes of cells from patients with CVID are significantly more radiosensitive than those of controls. Thus these patients must be protected from unnecessary X-ray examinations and in case of radiosensitive tumour, the dose of irradiation should be carefully monitored.

Purpose: Non-steroidal anti-inflammatory drugs (NSAID) are frequently used in oral surgical procedures in dentistry. The evaluation of the frequency of sister chromatid exchange (SCE) is accepted as a reliable cytogenetic method to assess the genotoxic effects of environmental factors. Materials and Methods: In this study, the genotoxic effects of various NSAIDs were assessed in 30 patients to who they were administered following encluosed third molar surgery using SCE analysis before and after the operation. The frequency of SCE was evaluated before the operation and after 3 days of etodolac, nimesulid and naproxen use. Results: There was no statistically significant difference in the frequency of SCE between the preoperative and postoperative states in patients given etodolac, nimesulid or naproxen sodium. Conclusion: Short term use of selective and non-selective NSAIDs was not associated with a significant genotoxic effect that could be detected using the SCE method in peripheric lymphocytes.

McCune–Albright syndrome is a genetic disorder characterized by polyostotic fibrous dysplasia, precocious puberty, and cafeau-lait spots. The main defect is a missense mutation in the GNAS1 gene, which results in the constitutive activation of the a-subunit of the Gs protein leading to overproduction of cAMP. Clinical presentation is variable due to the mosaic pattern of involvement of the tissues. Herein, we present a case of McCune–Albright syndrome (MAS) displaying the radiologic and biochemical features of Paget’s disease of bone. A 24-year-old woman was referred to our hospital due to skeletal deformities and facial dysmorphism. Her history included regular menses beginning at the age of 5 months, and bone deformities becoming evident at the age of about 5 years. Recently, she had been operated on due to a maxillary tumor; its pathological assessment yielded a diagnosis of fibrous dysplasia. On physical examination she was measured to be 90 cm in height. Facial asymmetry with depression of the left maxillary area was noted. She had extreme kyphoscoliosis and her right leg (tibia) had a bowing deformity. Routine blood chemistry showed a calcium level of 9.3 mg/dL, a phosphorus level in the lownormal range (2.9 mg/dL, normal 2.7–4.5), and a high alkaline phosphatase level (834 U/L, normal 42–98). Plasma levels of T3, T4, TSH, LH, FSH, estradiol, DHEAS-S, testosterone, free testosterone, growth hormone, prolactin, cortisol, and ACTH were all in the normal range. The parathyroid hormone level was 59.5 pg/mL (normal 9–55). Urinary hydroxyproline excretion was 392.3 mmol/mL creatinine (normal ,30). Radiological examination of the cranium revealed diffuse sclerosis of the skull base, thickening of the calvarium, and radiolucent areas (Figure 1). These changes were thought to be most compatible with Paget’s disease of bone. Both femurs showed widening of the bone shaft, ground glass appearance, and cortical thinning. Whole-body scintigram revealed dense uptake of the radiolabel in an asymmetric pattern (Figure 2). MRI scan of the sella revealed no pituitary adenoma. The presence of pathologically confirmed polyostotic fibrous dysplasia and a history of precocious puberty was considered decisive for diagnosis of MAS. The absence of cafe-au-lait spots does not exclude such a diagnosis, considering the mosaic nature of the disease. The most striking feature of the case was radiological findings closely mimicking those of Paget’s disease of bone. In the cranial radiographs, calvarial thickening, radiolucent areas resembling osteoporosis circumscripta, and sclerotic changes were considered compatible with Paget’s disease. Although these two disorders can cause thickening of the bones, X-ray findings of polyostotic fibrous dysplasia mimicking those of Paget’s disease have been emphasized very infrequently. Coexistence of both clinical situations has also been reported. Histologically, prominent osteoblasts on the surface of bone trabeculae and abnormal lamellar bone are characteristics of Paget’s disease and distinguish it from fibrous dysplasia. However, differentiating between Paget’s disease and polyostotic fibrous dysplasia should not be difficult on clinical grounds considering the very early onset of symptoms in the latter, particularly in the present case where the bony deformities had become evident at the age of about 5 years, which has not been seen in Paget’s disease. The high urinary hydroxyproline excretion and high serum alkaline phosphatase observed in our case may reflect the high bone turnover associated with polyostotic fibrous dysplasia, a feature also shared by Paget’s disease of bone. These findings suggest Address for correspondence and reprints: Dr. Sukru Palanduz, Fevzi Pasa Caddesi, Testereci Sokak, 1/10, Karagumruk, Fatih, 34230 Istanbul, Turkey. Figure 1. Lateral radiograph of the cranium showing calvarial thickening, radiolucent areas resembling osteoporosis circumscripta, and striking osteosclerosis involving particularly the skull base. Bone Vol. 24, No. 2 February 1999:157–158