Posts by Pathways Case Records Team,
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Pathways Case Record: EBV-associated Hemophagocytic Lymphohistiocytosis: A Case of Unchecked Inflammation
A 71-year-old man presented to a hospital with loss of consciousness, after experiencing gait changes, intermittent fevers, and fatigue. He was positive for Epstein-Barr virus, and the Pathways Service at Massachusetts General Hospital was consulted to investigate suspected hemophagocytic lymphohistiocytosis.
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Pathways Case Record: Idiopathic Achalasia in the Setting of Autoimmune Disease
A 41-year-old man presented with a 1.5 year history of progressive difficulty swallowing solids then liquids, a 6- to 8-month history of daily vomiting, and weight loss. Further evaluation indicated type I achalasia, a swallowing disorder, and the Pathways Service investigated the etiology of this patient's achalasia.
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Pathways Case Record: POEMS Disease
The Pathways Service investigated a 65-year-old woman admitted with recurrent fluid buildup in the abdomen and a history of IgA lambda gammopathy, neuropathy, leg swelling, hypothyroidism, and more. She was diagnosed with POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein, Skin changes) syndrome.
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Pathways Case Record: Familial Dilated Cardiomyopathy
Genetic testing of a woman with heart failure due to newly diagnosed dilated cardiomyopathy (DCM) revealed a likely pathogenic heterozygous mutation in the TTN gene. The Pathways Consult Service investigated the likely impact of TTN mutation on cardiomyocyte function and its potential causative role in DCM.
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Pathways Case Record: A Patient With Renal Failure Found to Have Nephrotic Syndrome With Histopathological Findings of Podocyte Effacement
A 63-year-old man with renal failure underwent a kidney biopsy for presumed nephrotic syndrome, which revealed severe podocyte injury. The Pathways Service was consulted to elucidate the current mechanism of injury to the patient's podocytes and the pathophysiologic underpinnings of his nephrotic syndrome.
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Pathways Case Record: Novel Insights Into Clinical Severity in Sickle Cell Disease
A 28-year-old woman with sickle cell disease (SCD) was hospitalized with fever, productive cough, and joint pain. She was transferred to Massachusetts General Hospital due to concern for acute respiratory failure and a high white blood cell count. The Pathways Service focused on the course of SCD in this patient.
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Pathways Case Record: A Case of Neutropenia in a Young Adult
An 18-year-old woman was admitted to Massachusetts General Hospital for neutropenia (low neutrophil counts) and oral ulcers. The Pathways Consult Service investigated and focused on the etiology of the patient's neutropenia and what therapeutic options are available.
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Pathways Case Record: Investigating Paraneoplastic Autoimmunity: A Case of Dermatomyositis in a Patient With Rectal Adenocarcinoma
A 55-year-old woman with a history of resected rectal adenocarcinoma was admitted for progressive proximal muscle weakness and rash; she was diagnosed with inflammatory myositis overlap syndrome. The Pathways Service was consulted and investigated the potential association between autoimmune diseases and malignancies.
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Pathways Case Record: A Patient With Cirrhosis and Small Bowel Edema
A 39-year-old man presented with an acute episode of severe epigastric pain, and initial evaluation revealed extensive small bowel edema and C1 esterase inhibitor (C1-INH) deficiency. The Pathways Service team was consulted to investigate the pathophysiologic mechanism for his dramatic small bowel edema.
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Pathways Case Record: Small Fiber Neuropathy and Recurrent GI Infections
A 24-year-old woman with postural orthostatic tachycardia syndrome, small fiber neuropathy, and impaired gastrointestinal (GI) motility presented with recurrent blood infections and bacteria in her gut. The Pathways Team investigated a relationship between the patient's neuropathy and recurrent GI bacterial infections.
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Pathways Case Record: Hypertriglyceridemia-associated Acute Pancreatitis in a Male With Exogenous Estrogen Use
A 26-year-old male desiring a male-to-female transition presented with acute, severe cramping and abdominal pain. An abdominal CT scan resulted in a diagnosis of hypertriglyceridemia (HTG)-induced pancreatitis. The Pathways team was consulted and investigated the mechanisms of acute pancreatitis in the setting of HTG.
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Pathways Case Record: Anti-HMGCR+ Immune-mediated Necrotizing Myopathy
The Pathways Consult Service at Massachusetts General Hospital investigated the case of an 85-year-old woman who was admitted for progressive muscle weakness and fatigue over the course of a month. A muscle biopsy showed pathology consistent with immune-mediated necrotizing myopathy (IMNM).
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Pathways Case Record: Triggers and Mechanisms of Takotsubo Cardiomyopathy
A 72-year-old woman presented with severe sudden onset substernal chest pain with shortness of breath while performing yard work after a social interaction, and a transthoracic echocardiography suggested Takotsubo syndrome (TTS). The Pathways Consult Service investigated and focused on key questions regarding TTS.
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Pathways Case Record: Ganglionopathy: An Incidence of Immune-mediated Dysfunction or Metabolic Deficiencies?
A 55-year-old male patient with a history of alcohol use disorder and hepatic steatosis presented with three weeks of numbness, paresthesia and pain involving his bilateral upper and lower extremities and face.
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Pathways Case Record: Legionella-induced Rhabdomyolysis With Acute Renal Failure
The Pathways Consult Service at Massachusetts General Hospital investigated a 47-year-old male who presented to the hospital with garbled, unintelligible speech and confusion after experiencing fatigue and myalgias throughout the week preceding his hospitalization.
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Pathways Case Record: Sickle Cell Disease and Hepatopathy: A Case of Multiple Insults Leading to Liver Disease
The Pathways Consult Service at Massachusetts General Hospital investigates the case of a 29-year-old man with a history of sickle cell disease complicated by hepatopathy and multiple intracranial aneurysms who presented with rising bilirubin levels and concerns for recurrent liver injury.
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Pathways Case Record: Metastasis Through the Lymphatic System
The Pathways Consult Service at Massachusetts General Hospital investigates a 43-year-old man with pre-diabetes mellitus who presented with persistent dry cough and dyspnea. The patient subsequently developed bilateral leg edema and toe discoloration.
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Pathways Case Records: Methamphetamine-Induced Pulmonary Arterial Hypertension
The Pathways Consult Service at Massachusetts General Hospital investigates a 44-year-old man with a history of obesity as well as long-standing methamphetamine and tobacco use presented with several months of progressive dyspnea on exertion, weight gain and lower extremity edema.
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Pathways Case Record: A Case of Severe Babesiosis
The Pathways Consult Service at Massachusetts General Hospital investigates a 68-year-old woman with a history notable for alcohol use disorder presented with malaise, body aches and labored breathing upon exertion.
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Pathways Case Record: COVID-19 Vaccine-associated Hyperinflammation
A 22-year-old female presented with 4 days of fevers and night sweats, headache, neck and chest pain, and facial pruritus.
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Pathways Case Records: A Case of Hemolytic Uremic Syndrome
An 84-year-old man with diabetes and coronary artery disease presented to another hospital after 2 days of hematemesis, diarrhea and lethargy.
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Pathways Case Record: Severe Encephalitis, Mitochondrial Dysfunction in a 28-Year-Old Patient
The Pathways Consult Service at Massachusetts General Hospital took on the case of a patient with severe encephalitis. They sought to find whether the development of lactic acidosis on linezolid therapy could provide insight into the development of his condition.
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Pathways Case Record: An Epigenetic Memory of Infection in the Lung
The Pathways Consult Service at Massachusetts General Hospital investigated the case of a 75-year-old woman who was admitted for dyspnea and cachexia stemming from severe and progressive allergic bronchopulmonary aspergillosis and bronchiectasis.
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Pathways Case Record: Nocturnal Hypothermia and HIV in a 53-Year-Old Woman
The Pathways Consult Service at Massachusetts General Hospital investigates the case of a 53-year-old female patient with HIV who presented with cyclical hypothermic episodes. They hypothesized that an autoimmune process related to immune reconstitution on HIV treatment led to the dysfunction of temperature regulation.
Biography
The Pathways Case Records team represents the administrative core of the Pathways Consult Service at Massachusetts General Hospital. The Pathways service aims to bring together individual patient questions with the tools of biomedical research, to enhance medical training, advance science and help patients and families seeking explanations.
Pathways Case Record Team members include:
Jay Vyas, MD, PhD
Mark Fishman, MD
Mike Dougan, MD, PhD
Marc Wein, MD, PhD
Rebecca Ward, PhD
