The Development and Initial Findings of A Study of a Prospective Adult Research Cohort with Inflammatory Bowel Disease (SPARC IBD).

Background: Clinical and molecular subcategories of inflammatory bowel disease (IBD) are needed to discover mechanisms of disease and predictors of response and disease relapse. We aimed to develop a study of a prospective adult research cohort with IBD (SPARC IBD) including longitudinal clinical and patient-reported data and biosamples.

Methods: We established a cohort of adults with IBD from a geographically diverse sample of patients across the United States with standardized data and biosample collection methods and sample processing techniques.

Plasma cell myeloma with lymphoplasmacytic morphology and cyclin D1 expression, an uncommon variant.

The genetic complexity of multiple myeloma is due in part to the accumulation of mutations, with primary and secondary events. One such secondary event is the development of a gene mutation that may result in overexpression of cyclin D1. The pathway involving cyclin D1 is intricately involved in cell cycle regulation from the G1 to S phase, and alterations may contribute to tumorigenesis.

Usefulness of percutaneous closure of patent foramen ovale for hypoxia.

We report a patient with hypoxia secondary to a right-to-left shunt through a patent foramen ovale, following aortic root, valve, and arch replacement due to an aortic dissection in the setting of the Marfan syndrome. Following the operation, he failed extubation twice due to hypoxia. An extensive workup revealed a right-to-left shunt previously not seen.

Novel biomarkers for hepatocellular carcinoma surveillance: has the future arrived?

Hepatocellular carcinoma (HCC) remains a major cause of mortality in patients with chronic liver disease worldwide. Early detection of HCC is critical to providing effective treatment and can have a significant impact on survival. In addition, effective surveillance following hepatic resection or locoregional ablative therapy can identify early recurrence and optimize long-term outcomes.

The Laugier-Hunziker syndrome.

We describe a 46-year-old Hispanic woman who was incidentally found to have hyperpigmentation of the oral mucosa and nails during a routine full body skin examination. The patient reported having these changes for years with no symptoms. A diagnosis of the Laugier-Hunziker syndrome (LHS) was made.

Acute myelogenous leukemia at Baylor Charles A. Sammons Cancer Center, 2010 to 2012: retrospective analysis of molecular genetic evaluation.

Over the last several decades, advancements in the understanding of genetic and molecular origins of acute myeloid leukemia (AML) have brought about significant changes in how the disease is classified, diagnosed, and treated. The change from the traditional French-American-British classification system to that of the World Health Organization redefined how the disease is diagnosed not only morphologically but genetically. With genetic information proving to have prognostic value, the newer classification system, which incorporates results of cytogenetic and molecular analyses, allows better definition of disease and risk stratification, ultimately guiding treatment choices.

Critical lower limb ischemia from an embolized Angio-Seal closure device.

Vascular closure devices were introduced in the early 1990s in an effort to reduce time to hemostasis, enable early ambulation, and improve the comfort of patients undergoing femoral artery access for endovascular procedures. Many of these devices leave a foreign component in or around the artery, which can lead to complications such as hematoma, pseudoaneurysm, infection, or limb ischemia. Here we present a case where device embolization led to arterial occlusion and critical limb ischemia.

Outcome assessment of 603 cases of concomitant inferior turbinectomy and Le Fort I osteotomy.

This retrospective study assessed the outcome of 603 patients undergoing partial inferior turbinectomies (PIT) in association with Lefort I osteotomy. The study included 1234 patients from a single private practice; these patients had dentofacial deformities and underwent Lefort I osteotomy procedures. For the full patient group, 888 patients (72%) were women; in the turbinectomy group, 403 (67%) were women.

Application of cranial bone grafts for reconstruction of maxillofacial deformities.

This retrospective study evaluated outcomes with the use of calvarial bone grafts (CBGs) in maxillofacial reconstruction as well as donor and recipient site complications. The records of 50 consecutive patients from a private practice were reviewed; there were 34 women and 16 men, with an average age of 32.4 years (range 16 to 66 years).

Combined congenitally bicuspid aortic valve and mitral valve prolapse causing pure regurgitation.

Described herein is a patient with a purely regurgitant congenitally bicuspid aortic valve and a purely regurgitant prolapsing mitral valve. Although it is well established that the bicuspid aortic valve is a congenital anomaly, it is less well appreciated that mitral valve prolapse is almost certainly also a congenital anomaly. The two occurring in the same patient provides support that mitral valve prolapse is also a congenital anomaly.

Results of an educational program to promote the use of pooled instead of single-donor platelet transfusions.

Transfusion of platelets is commonly indicated in the inpatient oncology setting. These platelets are obtained either through apheresis from a single donor or pooled from the whole blood of several donors. The amount of transfused platelets, infection risk, incidence of alloimmunization, and increases in posttransfusion platelet count are similar for these two platelet products.

Malignant transformation of endometriosis within the urinary bladder.

Although endometriosis of the pelvic organs is common, endometriosis of the urinary bladder is extremely rare. Malignant transformation of atypical endometriotic foci is an uncommon but well-documented sequela, occurring in approximately 1% of cases. This article reports the fourth case in the English literature of clear cell carcinoma arising from foci of endometriosis within the posterior bladder wall.

Primary cutaneous angiosarcoma of the breast after breast trauma.

Primary angiosarcoma of the breast is a rare malignant tumor. We report a case of breast primary cutaneous angiosarcoma in a patient with a strong family history of malignancy. For definitive diagnosis, a tissue biopsy is needed, with immunostaining for the presence of blood vessel endothelial markers CD31 and CD34.

Fondaparinux-associated heparin-induced thrombocytopenia.

Heparin-induced thrombocytopenia (HIT) is an immune-mediated clinical syndrome of thrombocytopenia and thrombosis occurring after exposure to heparin. HIT most commonly occurs after exposure to unfractionated heparin but has also been reported with low-molecular-weight heparin. To date, there have been very few reports of HIT with the pentasaccharide fondaparinux, and some have proposed fondaparinux as a treatment for HIT.

Primary cutaneous large B-cell lymphoma, leg type.

Primary cutaneous large B-cell lymphoma, leg type, is a rare and aggressive neoplasm as defined by the recently updated World Health Organization-European Organization for Research and Treatment of Cancer classification of cutaneous lymphomas. We present a case of a 74-year-old woman who presented with a cutaneous lesion on her forearm. Skin biopsy revealed pathology consistent with this entity.

Ectopic adrenocorticotropic hormone syndrome: a diagnostic challenge and review of the literature.

We present a case of a 60-year-old woman who initially presented with pneumonia and abdominal pain and was diagnosed with ectopic adrenocorticotropic hormone (ACTH) syndrome secondary to small cell lung cancer. We review published literature and summarize the typical challenges in the diagnosis and treatment of ectopic ACTH syndrome. Recent research has shed new light on the mechanism of ectopic ACTH production and provided a potential new target for treatment.

Chronic viral hepatitis: epidemiology, molecular biology, and antiviral therapy.

Viral hepatitis is a major cause of chronic liver disease, liver failure, and hepatocellular carcinoma worldwide, resulting in significant morbidity and mortality. New insights into the pathogenesis and molecular biology of hepatitis viruses have led to the discovery of novel antiviral agents. Likewise, a greater understanding of the natural history of chronic infection, predictors of disease progression, and predictors of virologic response to therapy has resulted in more effective treatment strategies.

Pacemaker laser lead extraction and reimplantation of dual-chamber implantable cardioverter defibrillator via Mustard baffle in complete transposition of great arteries.

We present a case of a complicated lead extraction and reimplantation of an implantable cardioverter defibrillator (ICD) in a young woman with complete transposition of great arteries (CTGA), a cyanotic congenital heart defect in which the aorta and the pulmonary trunk are transposed. The malformation results in two parallel circulations, whereby the left ventricle is attached to the pulmonary trunk and the right ventricle is attached to the aorta. Survival depends on the mixing of these two circulations at the level of the atria or ventricles or great arteries.

Causes and management of drug-induced long QT syndrome.

Long QT syndrome (LQTS) is characterized by inherited or acquired prolonged QT interval on the surface electrocardiogram. This can lead to torsade de pointes ventricular tachycardia (TdP VT) and ventricular fibrillation. In the acquired form of the disease, medications from several classes can cause TdP VT or potentiate the electrocardiographic findings.