Partial anomalous pulmonary venous connection associated with Lutembacher's syndrome

Lutembacher's syndrome is a rare combination of congenital atrial septal defect and mitral stenosis (almost always rheumatic). The hemodynamic effect of this combination makes the clinical diagnosis difficult due to a wide variation of clinical presentation. Echocardiography and cardiac catheterization are useful tools for proper diagnosis and planning of the therapeutic strategy. We present a 28-year-old female with Lutembacher's syndrome associated with partial anomalous pulmonary venous connection (PAPVC), which was surgically corrected. To our knowledge, this combination has never been reported in the literature.     

Multivalvular infective endocarditis in a tetralogy of fallot

Infective endocarditis (IE) is still a problem in patients with adult congenital heart disease. Tetralogy of Fallot (TOF) is one of the most important manifestations of congenital heart disease, which carries a high risk for the development of IE. We present an 18-year-old male with TOF complicated by an aggressive form of IE involving all cardiac valves.     

A 9-year-old girl with blisters on the hands and face: An early presentation of variegate porphyria

Variegate porphyria (VP) is a rare subtype of porphyrias characterized by dysfunction of enzymes in the heme biosynthesis pathway leading to an accumulation of porphyrins and their precursors. The resulting buildup can manifest as neuropsychiatric symptoms and photosensitive blistering eruptions on sun-exposed skin. We report a case of VP in a 9-year-old girl with many confounding medical factors that warranted alternative explanations for her cutaneous lesions. VP has been reported infrequently in the pediatric population and is associated with more severe neuropsychiatric outcomes compared to adult-onset disease.     

Comprehensive Assessment of Current Management Strategies for Patients With Diabetes and Chronic Limb-Threatening Ischemia

Chronic limb-threatening ischemia (CLTI) is the most severe form of peripheral artery disease. It is estimated that 60% of all nontraumatic lower-extremity amputations performed annually in the United States are in patients with diabetes and CLTI. The consequences of this condition are extraordinary, with substantial patient morbidity and mortality and high socioeconomic costs. Strategies that optimize the success of arterial revascularization in this unique patient population can have a substantial public health impact and improve patient outcomes. This article provides an up-to-date comprehensive assessment of management strategies for patients afflicted by both diabetes and CLTI.

More than 30 million Americans have diabetes and are presumably at higher risk of developing peripheral arterial disease (PAD) (1,2). Advanced PAD can manifest as chronic limb-threatening ischemia (CLTI), which is defined as limb pain at rest and/or the presence of ischemic ulceration or gangrene (3,4). CLTI affects ∼2 million Americans >40 years of age and is associated with higher risk of limb loss due to above-ankle (major) amputations (5–10). It is estimated that 60% of all nontraumatic lower-extremity amputations performed annually in the United States are in patients with diabetes and CLTI (11,12). These procedures are associated with substantial morbidity, considerable mortality, and high socioeconomic costs.On a per-patient basis, the cost of treating CLTI in patients with diabetes is higher than the treatment of both coronary artery disease (CAD) and cerebrovascular disease (13–15). These increased costs are likely the result of higher rates of hospital admissions, procedures, and complications. CLTI and its significant financial burdens are anticipated to increase as the preva-lence of diabetes continues to increase globally from 450 million living with diabetes in 2017 to an estimated 700 million by 2045 (16).Accordingly, strategies that optimize successful revascularization in patients with diabetes and CLTI can have a substantial public health impact and improve patient outcomes. Here, we review the medical and modern surgical management strategies for patients with diabetes and CLTI. We specifically reviewed studies with cohorts that were at least 50% patients with diabetes or CLTI, had subanalyses relevant for patients with diabetes or CLTI, and reported standard clinical outcomes relevant to patients with severe PAD.     

The correlation between plasma levels of oxytocin and betatrophin in non-diabetic and diabetic metabolic syndrome patients: A cross sectional study from Jordan

Background

Oxytocin (OXT) is a neurohypophyseal hormone that has been recently shown to possess a number of beneficial effects in diabetes and obesity. Betatrophin is a protein expressed in fat and liver that regulates lipid metabolism and promotes pancreatic β-cell proliferation. It is not investigated yet whether OXT and betatrophin levels correlate in metabolic syndrome (MS) or diabetes patients.

Evidence of stress in β cells obtained with laser capture microdissection from pancreases of brain dead donors

Isolated islets used for transplantation are known to be stressed, which can result from the circumstances of death, in particular brain death, the preservation of the pancreas with its warm and cold ischemia, from the trauma of the isolation process, and the complex events that occur during tissue culture. The current study focused upon the events that occur before the islet isolation procedure. Pancreases were obtained from brain dead donors (n = 7) with mean age 50 (11) and normal pancreatic tissue obtained at surgery done for pancreatic neoplasms (n = 7), mean age 69 (9). Frozen sections were subjected to laser capture microdissection (LCM) to obtain β-cell rich islet tissue, from which extracted RNA was analyzed with microarrays. Gene expression of the 2 groups was evaluated with differential expression analysis for genes and pathways. Marked changes were found in pathways concerned with endoplasmic reticulum stress with its unfolded protein response (UPR), apoptotic pathways and components of inflammation. In addition, there were changes in genes important for islet cell identity. These findings advance our understanding of why islets are stressed before transplantation, which may lead to strategies to reduce this stress and lead to better clinical outcomes.