Breast cancer in a patient with Kindlers syndrome.

Breast Cancer (BC) has associated risk factors and genetic factors like BRCA1, and BRCA2. Many benign and malignant disease processes are found concurrently with BC and believed to be additional risk factors like gall bladder stones (cholelithiasis), hypertension, diabetes mellitus, cerebrovascular lesions, arthritis, spine and spinal cord degenerative lesions, infertility, depression, sleep disturbances, obesity, autoimmune diseases (SLE), and thyroid diseases. There are some malignant disease associations like synchronous or metachronous ovarian, colonic and endometrial tumours with Breast cancer. Kindler Syndrome (KS) is a rare autosomal recessive genetic disorder manifesting as generalized dermatoses, described in 1954 by Theresa Kindler. KS is associated with acral skin blistering inducible by trauma, mucosal inflammation, photosensitivity, progressive pigmentation, telangiectasia, and skin atrophy (Poikiloderma). Repeated and progressive inflammation and subsequent fibrosis leads to ectropion, esophageal, anal, urethral, and vaginal stenosis and dryness. About 100 cases of Kindler syndrome have been reported in literature so far some from Arab World as well. Pathobiology of Kindler syndrome is not well understood. There are defects in KIND1 gene on chromosome 20. This gene expresses itself in basal keratinocytes, where it encodes a protein, called Kindlin 1. We report the second only case of Kindler's syndrome having breast cancer. These very very rare combinations have diagnostic issues, management restrictions, prognostic and follow up implications.

Insulin-like growth factor 1 gene polymorphism and breast cancer risk among arab omani women: a case-control study.

UNLABELLED: Breast cancer is the most common cancer worldwide with significant global burden. Insulin-like growth factor 1 (IGF1) is an important regulator of cellular growth, differentiation, and apoptosis and mitogenic and antiapoptotic activities. Some studies suggested an association between cytosine adenine (CA) repeats gene polymorphisms of IGF1 and the risk of developing breast cancer while other studies did not find such an association. This study aims investigate the role of IGF1 (CA) repeats gene polymorphisms in the risk of developing breast cancer among Omani women. METHODS: We analyzed (CA) repeats gene polymorphisms of IGF1 by extraction of genomic DNA from the peripheral blood of 147 patients with breast cancer and 134 control participants and performed genotyping using DNA sequencing. RESULTS: Approximately 46% of patients carried the IGF (CA)(19) repeat allele, with 31.3% carrying two copies of this allele and 50% of controls carried the IGF (CA)(19) repeat allele with 30.1% carrying two copies of this allele. The difference of the IGF CA repeat groups was significant between cases and controls with (P =0.02). In contrast, there was no difference in the distribution of (CA)(19) repeat allele, (CA)(18) repeat allele and (CA)(19) repeat allele between cases and controls. The difference of the CA groups was significant between cases and controls among postmenopausal women with (P =0.026), whereas no difference was observed among postmenopausal subjects (P =0.429). In both pre- and postmenopausal groups there was no difference in the distribution of (CA)(19) repeat allele, (CA)(18) repeat allele and (CA)(20) repeat allele between patients and control subjects. On further IGF1 genotypes classification, we found an association between progesterone receptor status and the genotypes group where the non carrier of (CA)(19) repeat group was compared to (CA)(19) repeat carrier group (OR =2.482; 95% CI =1.119-5.503; P value =0.023). CONCLUSION: Overall there was no association between the IGF (CA)(19) repeat and breast cancer in Omani females.

Beam configuration and physical parameters of clinical high energy photon beam for total body irradiation (TBI).

PURPOSE: To start total body irradiation (TBI) treatments, physical parameters are measured for a magna field irradiation. METHODS AND MATERIALS: 6 MV photon beam from Clinac 600 CD linear accelerator (Varian, USA) with fully opened collimator at 45° and gantry at 270° provided a diamond shaped magna field with diagonal dimension 224 cm at 4.0 m source skin distance (SSD). The flatness of the radiation field was measured in the presence of locally designed acrylic beam spoiler and beam flatness filter. Central Axis Depth dose data (CADD), tissue maximum ratios and entrance dose pattern are measured using large phantoms. Methods for clinical dose estimation using semi-conductor diodes and TLD were standardized. RESULTS: PVC beam flattener at the shielding tray position and the presence of acrylic beam spoiler in the radiation field provided a flatness of 100.15% ± 0.44% compared to open beam flatness 101.6 ± 1.5%. A reduction of 2% in percentage depth dose was observed at 10 cm depth in the presence of 15 mm acrylic beam spoiler. However, no changes are observed in the TMRs with presence of beam spoiler. The measured ionization ratios clearly showed change of beam quality with the introduction of beam spoiler. The presence of 15 mm beam spoiler ensured entrance dose 100% at skin and remaining unchanged within 1% upto a depth of 10 mm. Phantom measurements show good agreement between calculated and measured doses. CONCLUSIONS: The paper recommends use of modified CADD parameters for treatment planning, if calibration of output is carried out in the presence of beam spoiler.