A rarely seen syndrome in rehabilitation of hemiplegia: antiphospholipid antibody-negative Sneddon’s syndrome

Sneddon’s syndrome is a rarely seen disorder and it is characterized by livedo reticularis (LR) and neurologic findings. Some systematic findings may also be seen with neurologic and cutaneous findings. In this case, we aimed to present a 28-year-old female patient with diffuse LR, cardiac valve disease and migraine-type headache who had a right hemiplegic attack.     

Hb Sarrebourg [β131(H9)Gln→Arg, CAG>CGG] in Turkey

We describe Hb Sarrebourg [β131(H9)Gln→Arg, CAG>CGG] in four heterozygous members of a Turkish family. It was associated with iron deficiency in the proband.     

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.     

Expression of c-kit proto-oncogene product in breast cancer tissues

Background The published results on expression of c-kit in benign and malignant breast tissues vary. Materials and Methods The immunohistochemical expression of c-kit proto-oncogene product in 52 invasive breast cancer tissues and 16 benign breast tumor (fibroadenoma) tissues was studied using anti-c-kit proto-oncogene product antibody. Its expression was evaluated by immunoreactive score (IRS). Results In breast cancer tissues, the mean IRS of c-kit proto-oncogene product expression was significantly increased compared to those of fibroadenoma (3.4 ± 2 and 2.19 ± 1.8, respectively,p = 0.035). The mean IRS of c-kit expression was higher in the group comprising estrogen (ER) positive tumor than in the group of ER negative (4.1 ± 2.1 and 2.7 ± 1.8, respectively,p = 0.012) but no statistically significant relationship was seen between the expression of c-kit proto-oncogene product and other clinicopathological parameters of breast cancer, including histologic type, tumor size, lymph node metastasis, distant metastasis, stage, progesterone receptor, c-erbB-2 expression, menopausal status and age of the patient (p > 0.05). Conclusions Our results show that a high level of c-kit expression occurs frequently in invasive breast cancer, and its expression is associated with ER but unrelated to other clinico-pathological variables.     

Risk factors associated with local recurrence after curative resection for rectal cancer

A retrospective study was conducted to identify the factors related to locoregional recurrence in patients who underwent curative resections for primary rectal cancer between January 1986 and April 1994 at Ankara Oncology Hospital in Turkey. A step-wise logistic regression analysis was applied for 116 patients who had complete follow-up. Age, sex, macroscopic size of the lesion, tumor location in the rectum as determined by the distance from the anal verge, obstruction at presentation, tumor histology, lymphatic invasion, venous invasion, stage according to TNM classification, differentiation of the tumor, surgical treatment modality, radical abdominopelvic lymphadenectomy (RAPL), and blood transfusion were used as the clinico-pathologic variables. Locoregional recurrent disease was found after a mean follow-up period of 52 months in 28 (24.1%) patients, while the median recurrence-free period was 12 months. Univariate analysis demonstrated that age, disease stage, tumor grade, obstruction, RAPL, blood transfusion, and venous and lymphatic invasion were significant risk factors (P<0.05); however, using multivariate analysis, an increased risk for the development of locoregional recurrence was found to be associated with: age (P=0.0052), stage (P=0.0379), blood transfusion (P=0.0276), obstruction (P=0.0035), and RAPL (P=0.0069).     

MicroRNA Expression Analysis in Patients with Primary Myelofibrosis,Polycythemia vera and Essential Thrombocythemia

MicroRNAs (miRNA) are small non-coding RNA molecules that play critical roles in cell differentiation, proliferation and apoptosis and thus regulate haematopoietic stem cells and committed progenitor cells. We analyzed expressions of miRNAs associated with hematopoietic transformation of myeloid, erythroid and megakaryocytic progenitor cells during haematopoiesis (mir155, mir181a, mir221, mir222, mir223, mir451), in patients with primary myelofibrosis (PMF) (n = 22), polycythemia vera (PV) (n = 33), essential thrombocythemia (ET) (n = 49) and in healthy controls (n = 40) by quantitate/real time polymerase chain reaction. RT-PCR testing was negative for BCR–ABL1 fusion gene in all the patients. Mir155 was expressed in higher levels in all 3 disorders (p < 0.05). Mir221 was higher especially in ET and PMF group (p < 0.05). Mir222 expression was lower in PV patients (p < 0.05) and higher in ET and PMF patients compared to control group. Mir223 expression was higher in ET and PMF group than control group (p > 0.05). Mir451 levels were lower in all three groups compared to control group (p < 0.05). There was no difference in expression levels of mir181a between groups. JAK2V617F positivity, co-morbidities, drugs, and gender did not affect miRNA expressions. This study holds promise for the future application of these molecules for differential diagnosis and as therapeutic targets in Philadelphia chromosome negative myeloproliferative neoplasms.     

Takayasu arteritis in children

OBJECTIVE: To retrospectively evaluate the clinical features, angiographic findings, and outcomes of children with Takayasu arteritis (TA) in Turkey. METHODS: Clinical, laboratory, and angiographic findings and outcomes of 19 children with TA were evaluated with a retrospective chart review. The criteria for inclusion were those proposed by the American College of Rheumatology. RESULTS: Mean followup period was 35.89 +/- 40.75 months (range 1-168, median 30). There were 14 girls and 5 boys. The mean age at diagnosis was 12.84 +/- 2.69 years (range 8-17, median 13). The most common complaints on admission were headache (84%), abdominal pain (37%), claudication of extremities (32%), fever (26%), and weight loss (10%). One patient presented with visual loss. Examination on admission revealed hypertension (89%), absent pulses (58%), and bruits (42%). Angiography revealed type I in 13 patients (aortic arch, descending thoracic, and abdominal aorta), type II in 4 (descending thoracic aorta and abdominal aorta), and type IV in 2 (diffuse aortic and pulmonary artery). The most commonly involved vessels were the renal, subclavian, and carotid arteries. All patients received corticosteroid therapy, and further immunosuppressive therapy was added in 15 patients. Fourteen of the 17 hypertensive patients had renal artery stenosis and 9 underwent surgery or interventional therapy. Thoraco-abdominal bypass graft was performed in 2 patients who had abdominal aortic stenosis. CONCLUSION: Hypertension is the most common clinical feature at presentation. Corticosteroid and immunosuppressive therapy was effective in the control of disease activity. Angioplasty or bypass grafting was successfully performed when needed.     

Reliability and Validity of the Turkish Version of Illness Cognition Questionnaire

Background: This study aimed to determine the validity and reliability characteristics of the Illness Cognition Questionnaire (ICQ).

Methods: A total of 205 patients who had pain related to chronic musculoskeletal diseases were referred to the study. In order to test the validity, Short Disease Perception Scale (SDPS), Hospital Anxiety and Depression Scale (HADS) were administered together with the ICQ. Confirmatory factor analysis was used to measure the construct validity of the ICQ, and convergent and divergent validities were evaluated using Pearson correlation analysis. In order to achieve the test-retest reliability of the questionnaire, 81 patients re-applied the questionnaire after two days. Cronbach’s alpha internal consistency and test-retest reliability coefficients were calculated to determine the reliability level of the questionnaire.

Results: The factor loadings of the ICQ helplessness subscale ranged from 0.784 to 0.853, the acceptance subscale ranged from 0.583 to 0.855, and the perceived benefits subscale ranged from 0.733 to 0.794. Internal consistency coefficients of the ICQ were found α = 0.929 for the helplessness subscale, α = 0.868 for the acceptance subscale, and α = 0.896 for perceived benefits subscale. The results of the analysis showed that there was a statistically significant positive correlation between the initial measurement of helplessness sub-scale and the retest helplessness subscale at 0.697 level (p < .05). A statistically significant positive correlation was determined between the test and the retest of acceptance sub-scale at 0.465 level (p < .05). A statistically significant positive correlation was found between the first test of the perceived benefits sub-scale and the retest test at the 0.661 level.

Conclusion: The Turkish version of the ICQ was found to be valid and reliable. It is a measurement tool that could be used easily in clinics because of its short application time and easy to understand. We think that ICQ which provides a new awareness in the perception of disease in Turkish society should be examined in different diseases and age groups.