Flow Cytometric Enumeration of Peripheral Blood CD34+ Cells Predicts Bone Marrow Pathology in Patients with Less Than 1% Blasts by Manual Count.

Background and Aims: Significance of absolute number of CD34+ cells in the peripheral blood of patients with less than 1% myeloblasts by manual differential count is unknown and our aim is to study its relevance in clinical practice. Methods: We studied 138 peripheral bloods flow cytometric analyses in patients with less than 1% myeloblasts by manual differential, when CD34+ events were present in the gate that encompassed lymphocytes, monocytes, stem cells, and blasts. Results: The average absolute number of CD34+cells in the peripheral blood was 11 CD34+cells/µL ranging from less than 1 cell/µL to 147 cells/µL. The average absolute number of CD34+ cells in patients with an abnormal expansive process involving bone marrow (metastases, myelodysplasia, granulomas, marrow infections) or if bone marrow biopsy not performed, presumed expansive marrow process was 25 cells/µL, and in patients without an expansive marrow process (or presumed negative) was 4 cells/µL (P<0.00007). Cutoff 12 CD34+ cells/µL had 93% positive predictive value for bone marrow involvement by an expansive process and 78% negative predictive value. Conclusion: Flow cytometric testing of the peripheral blood is extremely sensitive method for enumerating CD34+ cells and can detect fewer than one CD34+ cell/µL. The absolute number of CD34+ cells in the peripheral blood is a useful parameter in determining marrow involvement by an expansive process and may provide guidance with respect to the necessity for bone marrow biopsy.

Prostatic adenocarcinoma in a patient with persistent Müllerian duct syndrome.

The embryonal male sexual differentiation is driven by testosterone, and Anti-Müllerian hormone (AMH). AMH is responsible for regression of Müllerian ducts in a genetically male fetus. Mutations inactivating AMH or its receptors are responsible for persistent Müllerian duct syndrome (PMDS) in virilized 46, XY males. PMDS is a rare genetic disorder affecting males, with less than 300 cases described in literature. The syndrome is usually recognized early in life with patients present with bilateral undescended testicles, and often decreased testosterone production by Leydig cells later in life. The role of testosterone in the development and progression of prostate cancer is well established, and men with low circulating free testosterone are expected to have a lower risk of developing prostate cancer. Indeed, 2 cases of prostate cancer in patients with PMDS have previously been described. Herein, we are reporting the third of prostate cancer in patient with PMDS.

Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical disease: A case report and brief review of the literature.

Congenital adrenal hyperplasia is an autosomal recessive disease most commonly associated with 21-hydroxylase deficiency, an enzyme integral in the biosynthesis of mineralocorticoids and glucocorticoids. We present a case of a 49-year-old male with congenital adrenal hyperplasia and commonly associated findings of adrenal myelolipoma, testicular adrenal rest tumors, as well as primary pigmented nodular adrenocortical disease. Adrenal myelolipoma is a rare, benign disease process associated with exogenous steroid treatment noncompliance in the setting of congenital adrenal hyperplasia. Testicular adrenal rest tumors are benign testicular tumors associated with congenital adrenal hyperplasia. Primary pigmented nodular adrenocortical disease is an ACTH-independent cortisol producing lesion. Our case emphasizes the association of congenital adrenal hyperplasia with adrenal myelolipoma and testicular adrenal rest tumors as well as the importance of familiarity with these associations to guide patient management.

Primary nodular chest amyloidoma: A case report and review of literature.

Primary nodular chest wall amyloidoma, in which a solitary mass of amyloid is deposited in and around the lungs with no evidence of systemic amyloidosis, is extremely rare, most often asymptomatic, and may resemble primary bronchogenic carcinoma. As a result, there are fewer than 100 cases published in the literature and no controlled clinical trials. Primary nodular chest wall amyloidoma is typically diagnosed either as an incidental radiological finding or after very serious and destructive mass growth at which point late-stage respiratory and pain symptoms finally develop, most often in elderly patients. We present imaging studies of a 61-year-old male patient with an unusually massive and destructive chest wall mass, originating in the chest wall, diagnosed as chest wall amyloidoma by histopathology analysis. Our CT, MRI, and PET scan findings are consistent with and contribute to the developing pattern of imaging characteristics seen in other case studies, which can be used to identify amyloidoma before it becomes destructive using non-invasive imaging analyses.

Giant cell arteritis: A case report and review of literature.

Giant cell arteritis, the most common form of vasculitis in the elderly, is characterized by granulomatous inflammation of arteries, which can lead to serious, life-threatening conditions including aortic aneurysms, ruptures, and dissections as well as blindness. Since GCA can be treated by immunosuppressant therapy, such as corticosteroids, early diagnosis and treatment may reduce the risk of serious disability and morbidity. While temporal artery biopsy is considered the gold standard to diagnosis giant cell arteritis, it is intrusive with inherent risks as well as unreliable due to tissue sampling. Imaging studies, such as computerized tomography, are nonintrusive and have been shown to identify vasculitis including giant cell arteritis. We present a case of a 72-year-old male patient who was diagnosed with giant cell arteritis by temporal artery biopsy during surgery for aortic aneurysm and coronary artery bypass graft. Computerized tomography imaging studies, prior to the surgery and biopsy, were suggestive of vasculitis. This case serves to emphasize the beneficial role of imaging studies to assess vasculitis, including giant cell arteritis, that can be done prior to the progressive development of more serious debilitating and potentially fatal pathology.

Granulomatosis with polyangiitis: A case report and brief review of literature.

Granulomatosis with polyangiitis formerly known as Wegener's granulomatosis was first described by German pathologist Friedrich Wegener in 1936. It is a multi-system necrotizing noncaseating granulomatous vasculitis which affects small to medium-sized vessels. It can involve any organ system, most commonly the lungs and kidneys. American College of Rheumatology requires 2 of 4 criteria for diagnosis: Positive biopsy for granulomatous vasculitis, urinary sediment with red blood cells, abnormal chest radiograph and oral/nasal inflammation. Here we present a case of Granulomatosis with polyangiitis with brief review of literature.

A case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation.

Capillary malformation-arteriovenous malformation (CM-AVM) is a rare condition characterized by multiple cutaneous capillary malformations with potential associated arteriovenous malformations. RAS p21 protein activator 1 (RASA1) and ephrin type-B receptor 4 (EPHB4) genes are implicated. We present a child with CM-AVM, due to EPHB4 mutation, and Ebstein's anomaly. Although EPHB4 is a known effector of vascular remodeling, its contribution to cardiogenesis is still being explored. Further research is needed to determine causality of Ebstein's anomaly in the setting of CM-AVM due to EPHB4 mutation.

Atypical imaging presentation of a massive intracavitary cardiac thrombus: A case report and brief review of the literature.

Intracavitary cardiac thrombi, uncommonly found in the right chambers, have been shown to form secondary to endocardial and myocardial diseases. The differential diagnosis for an intracavitary cardiac mass is broad, including primary cardiac tumors, cardiac metastases, anatomic variants, vegetations, and thrombi. Here we present a unique case with a large calcified intracavitary cardiac thrombus in a 26-year-old woman with obesity, immune thrombocytopenic purpura, and a new diagnosis of systemic lupus erythematosus. Initial imaging presentation in this case masqueraded as a tumor, delaying the true diagnosis. A combination of cardiac imaging techniques, including transthoracic and transesophageal echocardiograms, cardiac CT, and cardiac MRI were required to correctly diagnose this calcified bland thrombus.

Tracheobronchial amyloidosis: A case report and review of literature.

Tracheobronchial amyloidosis, manifested by amyloid deposits limited specifically to tracheal and bronchial tissue, is a rare manifestation with only a few hundred published cases. Patients classically present with symptoms related to fixed upper airway obstruction caused by tracheal stenosis. Clinical symptoms are non-specific and include hoarseness, dyspnea, cough, stridor, hemoptysis, and dysphagia, which are similar to those caused by more common airway disorders, often leading to incorrect, missed, and delayed diagnosis. The wide-spread use of computerized tomography (CT) imaging has the potential of dramatically advancing the early diagnosis of tracheobronchial amyloidosis. We present a case of a patient with chronic and progressive hoarseness, diagnosed with tracheobronchial amyloidosis, with a focus on unusually clear and precise CT soft tissue neck imaging. CT imaging demonstrated nodular circumferential raised mass-like thickening involving the long-segment posterior wall of the distal trachea. The wall thickening also extended into the proximal left main stem bronchi, but spared the distal bronchial tree. This resulted in moderate (approximately 50%) narrowing of the tracheal lumen, which explained the patient's hoarseness. Routine CT imaging of patients with chronic and progressive respiratory symptoms, including cough, hoarseness, and dyspnea, is recommended. Tracheobronchial amyloidosis is an uncommon disease, but it may become more commonly recognized with broader use of more effective CT imaging protocols.

Outside the Thorax: Doege-Potter Syndrome Presenting as a Retroperitoneal Abdominal Mass.

OBJECTIVE: We present a case of refractory hypoglycemia, weight loss, and retroperitoneal solitary fibrous tumor. Case report. A 68-year-old female presented with symptomatic hypoglycemia, weight loss, and abdominal mass identified on CT scan of the abdomen. Blood work during symptomatic hypoglycemia was consistent with an IGF-2-producing tumor. The abdominal mass pathology was consistent with solitary fibrous tumor surrounding the adrenal gland, and resection resulted in complete resolution of hypoglycemia. Discussion. Understanding the biochemical mechanisms behind glucose regulation is necessary to diagnose and adequately treat Doege-Potter syndrome, a paraneoplastic syndrome observed in patients with solitary fibrous tumors. Solitary fibrous tumors can be characterized by specific histologic and immunohistochemical studies. CONCLUSION: This report describes the clinical workup of a patient presenting with hypoglycemia and a retroperitoneal tumor. This case is unique because of its presentation with severe, refractory hypoglycemia and the tumor's location in the retroperitoneum, given the majority of solitary fibrous tumors are found in the lungs originating from the pleura.

Small bowel obstruction from hollow foreign body ingestion: A case report and brief review of literature.

While ingestion of a foreign body by children is common, diagnosis is often challenging, especially when the consumption by a young child is unwitnessed and presenting symptoms mimic other medical conditions. If the foreign body does not pass spontaneously, radiological imaging studies are typically performed, but visualization and identification of the ingested foreign object can be inconclusive, especially when an unidentified mass is radio translucent. Under this circumstance, physicians often have to go on a "fishing expedition", using exploratory endoscopy and/or surgery to identify and extract the object that became lodged. In this report we discuss a case of a 3 year-old boy who presented with abdominal pain and signs of bowel obstruction. Imaging revealed an ingested "radiolucent" foreign body, masqueraded as soft-tissue mass and enteric duplication cyst, delaying the diagnosis. Systematic shape and density reanalysis of CT and US imaging suggested a hollow object lodged at the terminal ileum. The patient underwent exploratory laparotomy with extraction of a hollow toy "fish". There is a dearth of literature regarding hollow ingested objects. This case report highlights the importance of systematic density and shape imaging analyses in order to identify and locate hollow ingested objects.

Fentanyl Quality Assurance Project Prompted Change in Clinical Workflow and Test Configurations.

BACKGROUND: Deaths attributable to fentanyl (FEN, a synthetic opioid) are high in Appalachia and highest in West Virginia. The goal of the study was to determine FEN prevalence among specimens submitted for definitive opioid testing and monitor responses to provider notifications of unexpected FEN findings during Q1 2020. METHODS: All definitive opioid test data were reviewed daily for FEN signatures in Q1 2020. Unexpected FEN results were communicated to providers and monitored for 10 days to record actions taken. Prevalence data were categorized. Behavioral Medicine (BMED) leaders analyzed January data and implemented FEN screening in the clinic. BMED Q1 clinic visits and order volumes for drug screens were reviewed after Q1. RESULTS: FEN positivity was 11% in Q1; >60% of findings were unexpected. Actions were taken for 54% of notifications in January but only 18% in March. Notifications required 70 hours of combined laboratory effort each month. BMED providers ordered 44% of definitive opioid tests and 69% of definitive FEN tests. Data prompted the addition of FEN to routine drug screen panels in the laboratory, and a 10% random FEN screening rate in the BMED opioid use disorder clinics (COAT). CONCLUSIONS: Prevalence of FEN positivity was higher than initially expected, even for this region in Appalachia. Expanded presence of FEN screening should assist BMED providers with clinical efforts and help identify patients in need of intervention/therapy.

Toward understanding the outer membrane uptake of small molecules by Pseudomonas aeruginosa.

Because small molecules enter Gram-negative bacteria via outer membrane (OM) channels, understanding OM transport is essential for the rational design of improved and new antibiotics. In the human pathogen Pseudomonas aeruginosa, most small molecules are taken up by outer membrane carboxylate channel (Occ) proteins, which can be divided into two distinct subfamilies, OccD and OccK. Here we characterize substrate transport mediated by Occ proteins belonging to both subfamilies. Based on the determination of the OccK2-glucuronate co-crystal structure, we identify the channel residues that are essential for substrate transport. We further show that the pore regions of the channels are rigid in the OccK subfamily and highly dynamic in the OccD subfamily. We also demonstrate that the substrate carboxylate group interacts with central residues of the basic ladder, a row of arginine and lysine residues that leads to and away from the binding site at the channel constriction. Moreover, the importance of the basic ladder residues corresponds to their degree of conservation. Finally, we apply the generated insights by converting the archetype of the entire family, OccD1, from a basic amino acid-specific channel into a channel with a preference for negatively charged amino acids.