Clinical approach to diarrheal disorders in allogeneic hematopoietic stem cell transplant recipients

Diarrhea is a common complication of allogeneic hematopoietic stem cell transplant (HSCT), with an average incidence of approximately 40%-50%. A wide variety of etiologies can contribute to diarrhea in HSCT patients, including medication-induced mucosal inflammation, infections, graft-vs-host disease and cord colitis syndrome in umbilical cord blood transplant. Clinical manifestations can vary from isolated diarrheal episodes, to other organ involvement including pneumonia or myocarditis, and rarely multiorgan failure. The approach for diagnosis of diarrheal disorders in HSCT patients depends on the most likely cause. Given the risk of life-threatening conditions, the development of clinically significant diarrhea requires prompt evaluation, supportive care and specific therapy, as indicated. Serious metabolic and nutritional disturbances can happen in HSCT patients, and may even lead to mortality. In this review, we aim to provide a practical approach to diagnosis and management of diarrhea in the post-transplant period.     

Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis

AIM: To investigate the angiographic and volumetric effects of mammalian target of rapamycin (mTOR) inhibitors on angiomyolipomas (AMLs) in a case series of patients with tuberous sclerosis complex.METHODS: All patients who underwent catheter angiography prior to and following mTOR inhibitor therapy (n = 3) were evaluated. All cross-sectional imaging studies were analyzed with three-dimensional volumetrics, and tumor volume curves for all three tissue compartments (soft tissue, vascular, and fat) were generated. Segmentation analysis tools were used to automatically create a region of interest (ROI) circumscribing the AML. On magnetic resonance images, the “fat only” map calculated from the in- and opposed-phase gradient recalled echo sequences was used to quantify fat volume within tumors. Tumor vascularity was measured by applying a thresholding tool within the ROI on post-contrast subtraction images. On computed tomography images, volume histogram analysis of Hounsfield unit was performed to quantify tumor tissue composition. The angiography procedures were also reviewed, and tumor vascularity based on pre-embolization angiography was characterized in a semi-quantitative manner.RESULTS: Patient 1 presented at the age of 15 with a 6.8 cm right lower pole AML and a 4.0 cm right upper pole AML. Embolization was performed of both tumors, and after a few years of size control, the tumors began to grow, and the patient was initiated on mTOR inhibitor therapy. There was an immediate reduction in the size of both lesions. The patient then underwent repeat embolization and discontinuation of mTOR inhibition, after which point there was a substantial regrowth in both tumors across all tissue compartments. Patient 2 presented at the age of 18 with a right renal AML. Following a brief period of tumor reduction after embolization, she was initiated on mTOR inhibitor therapy, with successful reduction in tumor size across all tissue compartments. As with patient 1, however, there was immediate rebound growth following discontinuation of inhibitor therapy, without sustained control despite repeat embolization. patient 3 presented at the age of 5 with a left renal AML and underwent two embolization procedures without lasting effect prior to starting mTOR inhibition. As with patients 1 and 2, following discontinuation of therapy, there was immediate rebound growth of the tumor. Repeat embolization, however, was notable for a substantial reduction in intratumoral aneurysms and vascularity.CONCLUSION: AML volume reduction as well as post-treatment rebound growth due to mTOR inhibitors involves all three tissue components of the tumor.     

Endovascular repair of a recurrent aortocaval fistula and anastamotic false aneurysm

Aortocaval fistula (ACF) and false aneurysm are a recognized complication of open abdominal aortic aneurysm (AAA) repair. Untreated they are often fatal. However, open surgical repair of this complication is associated with a high operative mortality and a significant complication rate. Endovascular management using a stent-graft to exclude the false aneurysm and fistula is a technically feasible alternative and confers many advantages over open repair by virtue of its minimally invasive nature. We report the endovascular management of this rare but serious complication of open AAA repair.     

Blood pressure disorders during Parkinson's disease: epidemiology, pathophysiology and management

Blood pressure disorders are highly prevalent in the course of Parkinson's disease (PD). They relate to autonomic failure and are frequently associated with orthostatic hypotension, postprandial hypotension and supine hypertension. Supine hypertension, which may concern up to 50% of patients with PD and autonomic failure, is driven by residual sympathetic activity and changes in sensitivity of vascular adrenergic receptors. It can also be induced or worsened by antihypotensive drugs. Even if little data is available, a set of arguments suggests that supine hypertension sometimes requires treatment. This review will focus on recent data on the pathophysiology and the management of supine hypertension in the context of its association with orthostatic hypotension.     

Circulating Tumor Cells: Personalized Medicine in Interventional Oncology?

Innovative technologic advancements have expanded the ability of interventional radiologists to capture and visualize directly tumor cells that have intravasated into the circulation. The detection of these circulating tumor cells (CTCs) is revolutionizing the understanding of the pathogenesis of metastasis and is paving the way for exquisitely sensitive techniques to detect malignancy, monitor recurrence, and prognosticate outcomes. In this review, the prevailing theories on the pathobiology of metastasis and the tools that have been developed to investigate CTCs are summarized. The tremendous impact CTCs are likely to have in oncology is discussed, with particular emphasis on their relevance to interventional oncology.     

Entire DAX1 Gene Deletion in an Indian Boy with Adrenal Hypoplasia Congenita

Objective

To report a case of Adrenal hypoplasia congenita (AHC) in an Indian boy presenting with adrenal failure in the neonatal period. Molecular diagnosis demonstrated absence of the entire DAX1 gene sequence region.

Methods

Real-time SYBR Green Polymerase Chain Reaction (PCR) amplification followed by melt curve analysis was the molecular analytical method used. Analysis of the PCR products by Agarose gel electrophoresis was also performed.

Results

Real-time SYBR Green PCR amplification carried out on a 240 bp region of Exon 1 and 320 bp region of Exon 2 of DAX1 gene did not result in any amplification for two independent DNA extractions of the patient sample. The melt curve analysis also failed to show the characteristic melt peaks. Additional analysis of the PCR products performed by Agarose gel electrophoresis of the patient samples did not reveal any DNA bands.

Conclusions

Inability to amplify two distinct regions located on two distinct exons of the DAX1 gene of the patient sample point to the possible absence of the entire DAX1 gene sequence region in the index patient. Such molecular diagnostic techniques may prove very useful in making a diagnosis as well as for genetic counseling.     

Iodine deficiency disorder in children aged 6–12 years of Ambala, Haryana

We conducted this study to assess the prevalence of goitre among 2700 children (6–12 yr) of district Ambala in Haryana. Children were examined as per standards laid by National iodine deficiency disorder control programme (NIDDCP). Multi stage cluster sampling method was used. Urine and salt samples were also studied for iodine concentration. The overall prevalence of goitre in the studied subjects was 12.6%. The median urinary iodine excretion in the study sample was more than 100μg/L Iodine content was found to be adequate in 88% of salt samples. We conclude that there was a high prevalence of goitre in young children despite iodine repletion. This calls for identification of factors to strengthen NIDDCP and the need to emphasize use of iodized salt in Haryana.