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Penn Moser posted an update 6 months, 2 weeks ago
The existence of genetic anticipation has been long disputed in inflammatory bowel disease (IBD) in the absence of the explanatory mechanism.
To determine whether it was predictive of genetic anticipation, we evaluated telomere length in IBD. We hypothesized that multiplex IBD families exhibit a genetic defect impacting telomere maintenance mechanisms.
We studied three IBD families with multiple affected members in three successive generations. We determined telomere length (TL) in lymphocytes and granulocytes from peripheral blood of the affected members using flow cytometry and fluorescence in-situ hybridization (flow FISH). We also performed whole exome sequencing in the blood of all available family members and used PhenoDB to identify potential candidate gene variants with recessive or dominant modes of inheritance.
Out of twenty-four patients of European descent selected to participate in the study, eleven patients, eight parent-child pairs affected by IBD, were included in the genetic anticipation analysis. Median difference in age at diagnosis between two successive generations was 16.5 years, with earlier age at onset in the younger generations. In most of the affected members, the disease harbored similar gastrointestinal and extraintestinal involvement but was more aggressive among the younger generations. TL was not associated with earlier age at onset or more severe disease in members of successive generations affected by IBD. NOD2 gene mutations were present in the Crohn’s disease patients of one family. However, no gene variants were identified as potential candidates for inheritance.
Telomere shortening appears unlikely to be involved in mechanisms of possible genetic anticipation in IBD. Further studies using a larger sample size are required to confirm or refute our findings.
Telomere shortening appears unlikely to be involved in mechanisms of possible genetic anticipation in IBD. Further studies using a larger sample size are required to confirm or refute our findings.Successful implementation of a patient blood management program necessitates the collaboration of a strong organization and a multidisciplinary approach. We organized a meeting with broad participation in our center to establish a consensus for implementation of a specific patient blood management program. International and domestic experiences were shared, the importance of coordination and execution of different pillars in patient blood management were discussed, and the problems about the blood transfusion system were also investigated with the proposal for solutions. The data obtained from this meeting are presented to be a guide for similar large-volume tertiary hospitals for integration of a patient blood management protocol.Thyroidectomy is considered an overall low-risk procedure. However, severe life-threatening complications, including tracheal necrosis may occur postoperatively. A 45-year-old male patient was referred to our clinic for papillary thyroid carcinoma surgery. The patient had mediastinitis signs and symptoms seven days after total thyroidectomy. Subsequent imaging demonstrated air leak and with mediastinitis as the primary diagnosis, and the patient underwent reoperation. During the operation, four necrotic tracheal rings were found to be the source of air leak. Due to tissue inflammation and infection, neither primary repair with tracheal resection and anastomosis, nor strap muscle plugging procedure were feasible. Therefore, a pedicle flap derived from the right pectoralis major muscle was transferred to the necrotic trachea. The patient”s clinical condition improved after the operation and subsequent bronchoscopies confirmed healing of trachea. During six-month follow-up, no complications were observed. In conclusion, the technique discussed in the current report shows promising outcomes for reconstructing large tracheal defects in inflammatory conditions where primary repair techniques are not suitable.Allogeneic peripheral stem cell transplantation is an effective treatment of malignant and non-malignant hematological diseases. However, it is associated with several complications, such as graft-versus-host disease, and also various complications involving different organ systems. Late-onset non-infectious lung complication is one of them. This pathology may also affect the different anatomical regions in the lung as parenchymas, bronchi, or vessels and may manifest with different clinical presentations. Lung transplantation can be an effective treatment in patients with pulmonary complications after allogeneic stem cell transplantation and also in patients who do not respond to treatment adequately and with a limited life expectancy. Herein, we report two rare cases who underwent lung transplantation after allogeneic stem cell transplantation.A 79-year-old male patient who presented with dizziness and several syncopal episodes was admitted to our clinic. Medical history of the patient revealed arterial hypertension and multifocal atherosclerosis with a history of two ischemic left middle cerebral artery strokes within the last year, without residual deficits, two coronary artery bypass grafts 22 years ago, and Stage IIB peripheral artery disease. The imaging studies revealed severe stenosis of the left internal carotid artery and high-grade ostial stenosis of the left common carotid artery. After clamping of the internal carotid artery and endarterectomy with patch angioplasty, before the patch was completely sutured, a sheath was placed through it and dilation and retrograde stenting of the proximal segment of the left common carotid artery were performed. check details The neurological symptoms of the patient disappeared and on postoperative computed tomography angiography, there was no residual carotid stenosis.Blunt abdominal aortic injuries are very rare in childhood. In these injuries, abdominal aorta and intra-abdominal organs can be damaged to various degrees. In this article, we report a unique pediatric case of isolated middle sacral artery injury following trauma.Cabrol procedure is an alternative technique of anastomosing coronary arteries to the aortic root graft by an extra graft, if direct implantation of coronary arteries to the aortic root graft is not possible. The left main coronary artery stenosis is a rarely seen complication after aortic root operations. Treatment of large coronary arteries with renal stents is a challenging procedure. Herein, we, for the first time in the literature, present a case of left main coronary artery stenosis treated with renal stents after Cabrol operation.
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