Pulmonary Alveolar Proteinosis due to Familial Myelodysplastic Syndrome with resolution after stem cell transplant.

Pulmonary alveolar proteinosis (PAP) is a rare lung disease with an incidence of 0.2 cases per million. PAP has multiple causes, including autoimmune, hereditary, congenital, or secondary. The latter includes hematologic conditions and exposure to different kinds of dust. Most patients present fever, dyspnea, and cough. The chest computed tomography (CT) may reveal the crazy-paving polygonal shapes with superimposed ground glass opacities delimited by thickened interlobular septa; however, this finding is more prevalent in patients with autoimmune PAP. Bronchoalveolar lavage (BAL) shows a milky-opaque appearance with PAS-positive debris on cytology. Treatment is focused on the underlying disease; however, some patients may require whole lung lavage for symptomatic management. We report a case of a 30-year-old female with a history of familial myelodysplastic syndrome (MDS) with GATA 2 mutation who presented to the outpatient clinic with several months of progressive dyspnea and nonproductive cough. The chest CT revealed bilateral ground-glass opacities prominently in the upper lobes. She underwent a bronchoscopy with lavage and biopsy, which revealed fragments of lung parenchyma with intra-alveolar coarse granular eosinophilic material strongly positive for PAS and d-PAS. The overall clinical presentation and histologic findings were diagnostic of PAP. Her GM-CSF was negative, and due to her history of MDS, secondary PAP (S-PAP) was strongly suspected. She underwent a successful allogeneic bone marrow pluripotent stem cell transplant to treat the myelodysplastic syndrome, with a follow-up chest CT showing clear lung parenchyma. The patient had resolution of symptoms about four months after the bone marrow transplant, confirming the diagnosis of S-PAP.

Management of Osteoporosis and Spinal Fractures: Contemporary Guidelines and Evolving Paradigms.

Physicians involved in treating spine fractures secondary to osteopenia and osteoporosis should know the pathogenesis and current guidelines on managing the underlying diminished bone mineral density, as worldwide fracture prevention campaigns are trailing behind in meeting their goals. This is a narrative review exploring the various imaging and laboratory tests used to diagnose osteoporotic fractures and a comprehensive compilation of contemporary medical and surgical management. We have incorporated salient recommendations from the Endocrine Society, the American Association of Clinical Endocrinology (AACE), and the American Society for Bone and Mineral Research (ASBMR). The use of modern scoring systems such as Fracture Risk Assessment Tool (FRAX®) for evaluating fracture risk in osteoporosis with a 10-year probability of hip fracture and major fractures in the spine, forearm, hip, or shoulder is highlighted. This osteoporosis risk assessment tool can be easily incorporated into the preoperative bone health optimization strategies, especially before elective spine surgery in osteoporotic patients. The role of primary surgical intervention for vertebral compression fracture and secondary fracture prevention with pharmacological therapy is described, with randomized clinical trial-based wisdom on its timing and dosage, drug holiday, adverse effects, and relevant evidence-based literature. We also aim to present an evidence-based clinical management algorithm for treating osteoporotic vertebral body compression fractures, tumor-induced osteoporosis, or hardware stabilization in elderly trauma patients in the setting of their impaired bone health. The recent guidelines and recommendations on surgical intervention by various medical societies are covered, along with outcome studies that reveal the efficacy of cement augmentation of vertebral compression fractures via vertebroplasty and balloon kyphoplasty versus conservative medical management in the elderly population.

Acute aortic dissection in the Marfan syndrome during the COVID-19 epidemic.

A 17-year-old boy with a recent diagnosis of COVID-19 infection was admitted with acute chest pain due to type A aortic dissection and was subsequently diagnosed with the Marfan syndrome. Literature shows an increased rate of aortic dissection during flu season. The hypothesis is that a cytokine storm triggers the dissection.

Pulmonary Alveolar Proteinosis due to Familial Myelodysplastic Syndrome with resolution after stem cell transplant

ABSTRACT Pulmonary alveolar proteinosis (PAP) is a rare lung disease with an incidence of 0.2 cases per million. PAP has multiple causes, including autoimmune, hereditary, congenital, or secondary. The latter includes hematologic conditions and exposure to different kinds of dust. Most patients present fever, dyspnea, and cough. The chest computed tomography (CT) may reveal the crazy-paving polygonal shapes with superimposed ground glass opacities delimited by thickened interlobular septa; however, this finding is more prevalent in patients with autoimmune PAP. Bronchoalveolar lavage (BAL) shows a milky-opaque appearance with PAS-positive debris on cytology. Treatment is focused on the underlying disease; however, some patients may require whole lung lavage for symptomatic management. We report a case of a 30-year-old female with a history of familial myelodysplastic syndrome (MDS) with GATA 2 mutation who presented to the outpatient clinic with several months of progressive dyspnea and nonproductive cough. The chest CT revealed bilateral ground-glass opacities prominently in the upper lobes. She underwent a bronchoscopy with lavage and biopsy, which revealed fragments of lung parenchyma with intra-alveolar coarse granular eosinophilic material strongly positive for PAS and d-PAS. The overall clinical presentation and histologic findings were diagnostic of PAP. Her GM-CSF was negative, and due to her history of MDS, secondary PAP (S-PAP) was strongly suspected. She underwent a successful allogeneic bone marrow pluripotent stem cell transplant to treat the myelodysplastic syndrome, with a follow-up chest CT showing clear lung parenchyma. The patient had resolution of symptoms about four months after the bone marrow transplant, confirming the diagnosis of S-PAP.

Coombs-Negative Haemolytic Anaemia, Direct Hyperbilirubinaemia and Splenomegaly: A Rare Amalgam.

INTRODUCTION: Epstein-Barr virus (EBV) is notorious for its varied presentation in adults. Reactivation of EBV can occur at any time and is often due to weakened cellular immunity. CASE DESCRIPTION: Here we report the case of a young woman with no previous medical history who presented with cholestatic hepatitis, Coombs-negative haemolytic anaemia and splenomegaly. Due to the initial disjointed picture with no other localizing symptoms, she underwent extensive work-up for the same. DISCUSSION: EBV has been associated with many malignancies, autoimmune diseases and chronic fatigue syndrome. EBV causes elevated liver enzymes; however, cholestatic hepatitis is exceedingly rare, with only a few cases reported. Haemolytic anaemia is a common complication of EBV infection and is often Coombs positive. CONCLUSION: EBV testing should be considered before more invasive and expensive work-up in a patient presenting with multi-systemic abnormalities. LEARNING POINTS: Epstein-Barr virus (EBV) can have myriad manifestations in all age groups.Coombs-negative haemolytic anaemia can occur as a complication of EBV.EBV testing should be considered prior to more expensive work-up in anyone presenting with abnormalities in the reticuloendothelial system.

Efficacy and Cardiovascular Safety of GLP-1 Receptor Analogues.

Glucagon-like peptide- 1 receptor analogs (GLP-1RAs) are incretin mimetics with potent glucose-dependent insulinotropic action that translates to glycemic control in people with type- -2 diabetes mellitus (T2DM). These agents potentially have the ability to stimulate proliferation or prevent apoptosis of pancreatic ß-cells, induce weight-loss and provide vascular benefits in patients with T2DM. Newer GLP-1RA, semaglutide has shown a robust reduction in HbA1c up to 1.5 - 1.8%. However, individual differences exist between the different GLP-1RAs, in terms of efficacy, pharmacokinetics, tolerability, and vascular protection. The potential of vascular protection offered by newer anti-diabetic agents has generated a lot of excitement in the field of diabetes, and to a large extent, is now driving treatment decisions. So far, six cardiovascular outcome trials of GLP-1 RAs have been published, analyzing lixisenatide (ELIXA), liraglutide (LEADER), semaglutide (SUSTAIN-6), long-acting exenatide (EXSCEL), dulaglutide (REWIND), and oral semaglutide (PIONEER 6) with a follow-up duration of 2-4 years. LEADER, REWIND and SUSTAIN-6 trials have demonstrated a reduction in rates of major adverse cardiovascular events with active GLP-1 RA treatment, but ELIXA, PIONEER 6 and EXSCEL, have been neutral. In this review, we discuss the available evidence from randomized controlled trials (RCTs) analyzing the cardiovascular effects of various GLP-1 RAs with the aim of comparing individual drugs. We have also summarized the general aspects of GLP-1RAs that can be applied in clinical practice.