OpenMed/multicare-articles huggingface dataset:
Cavernous transformation of portal vein secondary to portal vein thrombosis: a case report
Authors: Radhames Ramos, Yoojin Park, Ghulamullah Shazad, Christine A Garcia, Ronny Cohen
Journal: J Clin Med Res (2012)
Keywords: cavernous transformation of the portal vein, portal vein thrombosis, portal hypertension, hyperbilirubinemia, hepatic mass

There are few reported cases of cavernous transformation of the portal vein (CTPV) in adults. We present a case of a 58 year-old male who was found to have this complication due to portal vein thrombosis (PVT). A 58-year old African American male with chronic alcohol and tobacco use presented with a 25-day history of weakness, generalized malaise, nausea and vomiting associated with progressively worsening anorexia and weight loss. The patient was admitted for severe anemia in conjunction with abnormal liver function tests and electrolyte abnormalities, and to rule out end stage liver disease or hepatic malignancy. The work-up for anemia showed no significant colon abnormalities, cholecystitis, liver cirrhosis, or liver abnormalities but could not rule out malignancy. An esophageogastroduodenoscopy (EGD) was suspicious for a mass compressing the stomach and small bowel. After further work-up, the hepatic mass has been diagnosed as a cavernous transformation of the portal vein (CTPV), a very rare complication of portal vein thrombosis (PVT). Cavernous Transformation of the Portal Vein (CTPV) is a rare and incurable complication of portal vein thrombosis (PVT) that should be considered as one of the differential diagnoses of a hepatic mass.
Keywords:
Cavernous transformation of the portal vein; Portal vein thrombosis; Portal hypertension; Hyperbilirubinemia; Hepatic mass.
Bilateral Congenital Preauricular Fistula of the Cavum Conchae
Authors: Shotaro Koizumi, Takuya Yoshida, Kento Ishigaki, Ryoukichi Ikeda, Jun Suzuki
Journal: Cureus (2023)
Keywords: auricular infection, cartilage, ear surgery, external auditory canal, sinectomy
MeSH terms: Case Reports

A 16-year-old female who had left auricular sinus infections was admitted to our hospital. On physical examination, bilateral sinus tract openings were noted at the cavum conchae. We used a surgical microscope to complete the total resection of the bilateral sinus at the cavum conchae. Also dissected was the cartilage from the cavum conchae. To our knowledge, surgical excision of cavum conchae sinuses has not been previously described.
Multicolour imaging signatures to diagnose concurrent macular telangiectasia type 2 and macular branch retinal vein occlusion
Authors: Ike Schouten, Sugandha Goel, Kumar Saurabh, Rupak Roy
Journal: GMS Ophthalmol Cases (2019)
Keywords: blue reflectance imaging, branch retinal vein occlusion, macular telangiectasia type ii, multicolour imaging
MeSH terms: Case Reports

Concurrent macular telangiectasia type 2 (MacTel) and branch retinal vein occlusion (BRVO) have not been described before and can pose a diagnostic dilemma. The current report highlights the role of multicolour (MC) imaging and blue reflectance (BR) imaging in diagnosing this multi-pathology. A 60-year-old male presented with diminution of vision in the right eye. BR imaging showed parafoveal hyperreflectance, characteristic of MacTel, and hyperreflective parafoveal retinal vessels indicating vascular changes in RVO. MC imaging, particularly the BR component is a promising tool to aide in the diagnosis of concurrent MacTel and BRVO, guiding treatment decisions and prognosticating treatment outcomes.
Diagnosing thyroid lymphoma: steroid administration may result in rapid improvement of dyspnea : a report of two cases
Authors: Oliver S Eng, Sebastian Lesniak, Tomer Davidov, Stanley Z Trooskin
Journal: Int J Endocrinol Metab (2014)
Keywords: diagnostic tests, dyspnea, lymphoma, steroids, thyroid, trachea
MeSH terms: Case Reports

Introduction:
Thyroid nodules, whether benign or malignant, are slow growing masses. There are certain clinical situations where sudden rapid growth may occur and cause acute respiratory compromise secondary to tracheal compression.
Case presentation:
Here we describe two patients with suddenly enlarging thyroid nodules, who developed acute respiratory compromise in the absence of tracheal compression. Their symptoms rapidly improved with administration of corticosteroids, and in subsequent workup, both were diagnosed as thyroid lymphoma.
Conclusions:
The potent effect of corticosteroids in the rapid improvement of respiratory compromise associated with thyroid lymphoma represents an important clinical finding. This opens the possibility for the favorable response to corticosteroid therapy to be regarded as a possible preliminary diagnostic tool for thyroid lymphoma in acute respiratory distress patients in the absence of tracheal compression. Subsequent retrospective studies are necessary to verify this hypothesis.
Retroperitoneal fibrosis: a rare cause of acute renal failure
Authors: Amaka Ezimora, Marquetta L Faulkner, Oluwafisayo Adebiyi, Abimbola Ogungbemile, Salas-Vega Marianna, Chike Nzerue
Journal: Case Rep Nephrol (2012)

Introduction. Retroperitoneal fibrosis is a rare cause of acute renal failure (ARF) with only a handful of cases reported in literature. We report a case of a 40-year-old male with an incidental finding of retroperitoneal fibrosis. Case Presentation. Patient is a 40-year-old African American male with no significant past medical history who presented with a four-month history of low back pain and associated nausea with vomiting. Physical examination was significant for elevated blood pressure at 169/107 mmhg and bilateral pedal edema. Significant admission laboratory include blood urea nitrogen (BUN) of 108 mg/dL, serum creatinine (Cr) of 23 mg/dL, bicarbonate of 19 mg/dL, and potassium of 6.2 mmL/L. Renal ultrasound showed bilateral hydronephrosis. Post-void residual urine volume was normal. Abdominopelvic CT scan showed retroperitoneal fibrosis confirmed with fine-needle biopsy. He was treated with a combination of bilateral ureteral stent placement, hemodialysis, and steroid therapy. Four months after hospital discharge, his BUN and Cr levels Improved to 18 mg/dL and 1.25 mg/dL, respectively. Conclusion. Retroperitoneal fibrosis should be considered as a differential diagnosis in patients with acute renal failure and obstructive uropathy. Abdominal CT scan is the examination of choice for diagnosis. Full resolution with treatment depends on the duration of obstruction.
Anterior Crossbite Correction in Early Mixed Dentition Period Using Catlan's Appliance: A Case Report
Authors: Prashanth Prakash, B H Durgesh
Journal: ISRN Dent (2011)
MeSH terms: Case Reports

Single tooth anterior dental crossbite is the commonly encountered malocclusion during the development of occlusion in children. Various treatment options such as removable and fixed appliances have been suggested by different authors in the past literature. This paper presents two cases of anterior crossbite corrected using the standard Catlan's appliance (Lower Inclined Bite Plane) in a short period of three weeks without any damage to the tooth or the periodontium. This fixed appliance is a simple and traditional method which does not depend on patient cooperation to reverse the bite.
Emphysematous Pyelonephritis Presenting as Pneumaturia and the Use of Point-of-Care Ultrasound in the Emergency Department
Authors: Natasha Brown, Paul Petersen, David Kinas, Mark Newberry
Journal: Case Rep Emerg Med (2019)
MeSH terms: Case Reports

Emphysematous pyelonephritis (EPN) is a rare form of pyelonephritis causing a severe infection of the renal system that includes gas in the renal parenchyma, collecting system and surrounding tissue often presenting with sepsis. We report the case of a 60-year-old male with poorly controlled insulin dependent diabetes mellitus who presented with abdominal pain, nausea, vomiting, and "peeing air." CT scan revealed air extending from the left renal parenchyma, perinephric fat and into the bladder, consistent with emphysematous pyelonephritis. Bedside point-of-care ultrasound (POCUS) subsequently revealed dirty shadowing and reverberation artifacts in the left kidney and the bladder consistent with gas in the urinary collecting system. By understanding the identifying artifacts seen with EPN, reflective shadow and reverberation artifact, the emergency physician may be alerted to the diagnosis sooner. Often this illness presents similarly to simple, acute pyelonephritis or undifferentiated sepsis. Therefore, POCUS allows for real time consideration of this condition while in the emergency department and thus prompter time to treatment.
Immunotherapy-associated autoimmune hemolytic anemia
Authors: Uqba Khan, Farman Ali, Muhammad Siddique Khurram, Awais Zaka, Tarik Hadid
Journal: J Immunother Cancer (2017)
Keywords: autoimmune hemolytic anemia, immunotherapy, ipilimumab, nivolumab
MeSH terms: Anemia, Hemolytic, Autoimmune / chemically induced, Antibodies, Monoclonal / adverse effects, Antineoplastic Agents, Immunological / adverse effects, Ipilimumab / adverse effects, Case Reports, Adult, CTLA-4 Antigen / antagonists & inhibitors, Female, Humans, Immunotherapy / adverse effects, Melanoma / drug therapy, Nivolumab, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Skin Neoplasms / drug therapy, Antibodies, Monoclonal, Antineoplastic Agents, Immunological, CTLA-4 Antigen, CTLA4 protein, human, Ipilimumab, PDCD1 protein, human, Programmed Cell Death 1 Receptor, Nivolumab

Background:
Immunotherapy has been widely used in the treatment of several solid and hematologic malignancies. Checkpoint inhibitors have been the forefront of cancer immunotherapy in recent years. Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and programmed cell death 1 (PD-1) pathway are the prototypic checkpoint targets for immunotherapy. When combined, CTLA-4 and PD-1 checkpoint inhibitors work synergistically, but with increased probability of toxicity. The following case represents an unusual adverse effect of combined treatment with ipilimumab and nivolumab used for treatment of metastatic melanoma.
Case presentation:
A 43-year-old woman with metastatic melanoma presented with severe generalized weakness and fatigue. She has received two cycles of ipilimumab and nivolumab, last administered 3 weeks prior to her presentation. Initial investigations revealed severe anemia with appropriate reticulocytosis, severely elevated lactate dehydrogenase, undetectable haptoglobin level and positive direct coombs test. Patient was diagnosed with severe autoimmune hemolytic anemia secondary to ipilimumab and nivolumab. She was successfully treated with high dose steroids and rituximab.
Conclusions:
In our case, we present a rare but serious adverse effect of immunotherapy. We illustrate the clinical presentation and management of immunotherapy associated autoimmune hemolytic anemia. Immunotherapy has revolutionized the treatment of many malignant conditions; therefore, it is imperative for health care professionals caring for cancer patient to be familiar with the adverse effects of immunotherapy, which allow for early recognition and management of these potentially lethal side effects.
Unusual Presentations of Focal Periphyseal Edema Zones: A Report of Bilateral Symmetric Presentation and Partial Physeal Closure
Authors: Nicholas Beckmann, Susanna Spence
Journal: Case Rep Radiol (2015)

Focal periphyseal edema (FOPE) zones are areas of periphyseal edema seen near the time of physeal closure which are believed to be a physiologic phenomenon related to changes in distribution of forces around the physis as it closes. Since the original case series describing these areas of periphyseal edema, there has been little published in regard to FOPE zone outside of review articles. We present a set of three patients identified with focal periphyseal edema zones around the knee and compare our findings with the initial case series. We include a patient presenting with bilateral, nearly symmetric, focal periphyseal edema zones of the proximal tibia physis and a patient with partial closure of the physis at time of presentation, which were not reported in the original case series.
Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature
Authors: T Couture, K Amato, A DiAdamo, P Li
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

Jumping translocations of 1q refer to the break-off of chromosome 1q as a donor fusing to two or more recipient chromosomes. We detected jumping translocations of 1q in three patients with initial diagnosis of myelodysplastic syndrome (MDS) and later progression to acute myeloid leukemia (AML). Review of literature found jumping translocations of 1q in 30 reported cases of MDS and AML. The cytogenetic findings from these 33 cases showed that seven cases had a stemline clone and 26 cases had de novo jumping translocations of 1q in which 5% of cell lineages had additional structural rearrangements. In 75% of cases, the 1q donor jumped to the short arm of recipient acrocentric chromosomes. Approximately 82% of the fusions occurred in the telomeric regions of short and long arms and 18% occurred in the pericentric or interstitial regions of recipient chromosomes. Hypomethylation of the donor 1q pericentromeric region and shortened telomeres in recipient chromosomes were associated with the formation of jumping translocations. Jumping translocations of 1q as an indication of chromosomal instability pose high risk for progression of MDS to AML and a poor prognosis. Further understanding of underlying genomic defects and their clinical significance will improve overall treatment and patient care.
Disseminated cryptococcosis in an immunocompetent patient: a case report
Authors: S Suchitha, C S Sheeladevi, R Sunila, G V Manjunath
Journal: Case Rep Pathol (2012)
MeSH terms: Case Reports

Cryptococcus neoformans is ubiquitous encapsulated yeast found throughout the world. It predominantly causes significant infections in immunocompromised individuals, of which 80-90% occur in people with human immunodeficiency virus (HIV) infection. Disseminated cryptococcal infection is uncommon and almost always occurs in HIV-infected patients. Disseminated disease, especially noncutaneous cryptococcal abscess in immunocompetent hosts, is exceedingly rare. We report a case of disseminated cryptococcosis with soft tissue, pulmonary, and cerebral involvement in an otherwise healthy immunocompetent patient initially diagnosed by fine needle aspiration cytology (FNAC).
Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia
Authors: Rían W Manville, Richard Sidlow, Geoffrey W Abbott
Journal: Front Neurol (2022)
Keywords: ataxia, ea1, kcna1, kv11, carbamazepine

Episodic ataxia is an umbrella term for a group of nervous system disorders that adversely and episodically affect movement. Episodes are recurrent, characterized by loss of balance and coordination and can be accompanied by other symptoms ranging from nausea to hemiplegia. Episodic Ataxia Type 1 (EA1) is an inherited, autosomal dominant disease caused by sequence variants in KCNA1, which encodes the voltage-gated potassium channel, KCNA1 (Kv1.1). Here we report a novel loss-of-function KCNA1 pathogenic variant [c.464T>C/p.Leu155Phe] causing frequent, sudden onset of clumsiness or staggering gait in the young female proband. The gene variant was maternally inherited and the mother, whose symptoms also began in childhood, has a normal MRI and EEG, slurred speech and dystonic movements involving upper extremities and mouth. Both mother and daughter are responsive to carbamazepine. Cellular electrophysiology studies of KCNA1-L155P potassium channels revealed complete but non-dominant loss of function, with reduced current and altered gating in heterozygous channels. To our knowledge this is the first EA1-associated pathogenic variant located in the KCNA1 cytoplasmic N-terminus, expanding the reported clinically sensitive domains of the channel.
Postoperative 'STEMI' in Intracerebral Hemorrhage due to Arteriovenous Malformation: A Case Report and Review of Literature
Authors: Ravinder Datt Bhanot, Jasleen Kaur, Shitiz Sriwastawa, Kendall Bell, Kushak Suchdev
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

Electrocardiogram (ECG) changes suggestive of cardiac ischemia are frequently demonstrated in patients with ischemic stroke and subarachnoid hemorrhage. However, little is known of such changes particularly acute ST segment myocardial infarction (STEMI) in patients with intracerebral hemorrhage (ICH), especially after neurosurgery. We present a patient with intraparenchymal hemorrhage due to cerebral arteriovenous malformation (AVM) who exhibited acute STEMI after neurosurgery. Serial cardiac biomarkers and echocardiograms were performed which did not reveal any evidence of acute myocardial infarction. The patient was managed conservatively from cardiac stand point with no employment of anticoagulants, antiplatelet therapy, fibrinolytic agents, or angioplasty and recovered well with minimal neurological deficit. This case highlights that diffuse cardiac ischemic signs on the ECG can occur in the setting of an ICH after neurosurgery, potentially posing a difficult diagnostic and management conundrum.
Prolonged unilateral disuse osteopenia 14 years post external fixator removal: a case history and critical review
Authors: Karen M Knapp, Ann V Rowlands, Joanne R Welsman, Kenneth M Macleod
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Disuse osteopenia is a complication of immobilisation, with reversal generally noted upon remobilisation. This case report focuses on a patient who was seen 18 years following a road traffic collision when multiple fractures were sustained. The patient had an external fixator fitted for a tibia and fibula fracture, which remained in situ for a period of 4 years. Following removal, the patient was mobilised but, still required a single crutch to aid walking. Fourteen years post removal of the fixator, the patient had a DXA scan which, demonstrated a T-score 2.5 SD lower on the affected hip. This places the patient at an increased risk of hip fracture on this side, which requires monitoring. There appear to be no current studies investigating prolonged disuse-osteopenia in patients following removal of long-term external fixators. Further research is required to quantify unilateral long-term effects to bone health and fracture risk in this population.
Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis
Authors: Laura Viñas-Giménez, Rafael Rincón, Roger Colobran, Xavier de la Cruz, Verónica Paola Celis, José Luis Dapena, Laia Alsina, Joan Sayós, Mónica Martínez-Gallo
Journal: Front Immunol (2021)
Keywords: hlh, langerhans-cell-histiocytosis, nk, stx11, stxbp2, degranulation, familial hemophagocytic lymphohistiocytosis−5 (f-hlh), lytic granule exocytosis
MeSH terms: Histiocytosis, Langerhans-Cell / diagnosis, Histiocytosis, Langerhans-Cell / genetics, Lymphohistiocytosis, Hemophagocytic / diagnosis, Lymphohistiocytosis, Hemophagocytic / genetics, Munc18 Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Cytotoxicity, Immunologic, Genetic Predisposition to Disease, Histiocytosis, Langerhans-Cell / complications, Humans, Infant, Lymphohistiocytosis, Hemophagocytic / complications, Male, Mutation, Munc18 Proteins, STXBP2 protein, human

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder. HLH can be considered as a threshold disease depending on the trigger and the residual NK-cell cytotoxicity. In this study, we analyzed the molecular and functional impact of a novel monoallelic mutation found in a patient with two episodes of HLH. A 9-month-old child was diagnosed at 2 months of age with cutaneous Langerhans cell histiocytosis (LCH). After successful treatment, the patient developed an HLH episode. At 16 month of age, the patient went through an HSCT losing the engraftment 5 months later concomitant with an HLH relapse. The genetic study revealed a monoallelic mutation in the STXBP2 gene (.pArg190Cys). We transfected COS7 cells to analyze the STXBP2-R190C expression and to test the interaction with STX11. We used the RBL-2H3 cell line expressing STXBP2-WT-EGFP or R190C-EGFP for degranulation assays. Mutation STXBP2-R190C did not affect protein expression or interaction with syntaxin-11. However, we have demonstrated that STXBP2-R190C mutation diminishes degranulation in the RBL-2H3 cell line compared with the RBL-2H3 cell line transfected with STXBP2-WT or nontransfected. These results suggest that STXBP2-R190C mutation acts as a modifier of the degranulation process producing a decrease in degranulation. Therefore, under homeostatic conditions, the presence of one copy of STXBP2-R190 could generate sufficient degranulation capacity. However, it is likely that early in life when adaptive immune system functions are not sufficiently developed, an infection may not be resolved with this genetic background, leading to a hyperinflammation syndrome and eventually develop HLH. This analysis highlights the need for functional testing of new mutations to validate their role in genetic susceptibility and to establish the best possible treatment for these patients.
Case report: Rhabdomyolysis and kidney injury in a statin-treated hypothyroid patient-kill two birds with one stone
Authors: Wen-Fang Chiang, Jenq-Shyong Chan, Po-Jen Hsiao, Shih-Hua Lin
Journal: Front Med (Lausanne) (2022)
Keywords: acute kidney injury, cholesterol, hydroxymethylglutaryl-coa reductase inhibitors, hypothyroidism, rhabdomyolysis
MeSH terms: Case Reports

Statin treatment for hypercholesterolemia may cause reversible rhabdomyolysis and acute kidney injury in susceptible patients. However, persistent rhabdomyolysis and acute kidney injury following discontinuation of statins require careful evaluation of the underlying causes to avoid missing a curable disease. We describe a 50-year-old woman with hypercholesterolemia [total cholesterol 345 mg/dl, low-density lipoprotein cholesterol (LDL-C) 266 mg/dL] on atorvastatin therapy (40 mg daily) for 1 month that presented with myalgia and muscle weakness. Relevant laboratory studies revealed persistent higher hypercholesterolemia with total cholesterol (312 mg/dL), high creatine kinase (CK) (5,178 U/L), and high creatinine levels (1.5 mg/dL) without dysmorphic red blood cells and proteinuria. Despite the cessation of statin therapy, serum CK level increased to 9,594 U/L, and creatinine remained at 1.5 mg/dL. A thorough work-up to assess potential underlying causes indicated low T3 and free T4 and high thyroid-stimulating hormone (TSH) levels, consistent with hypothyroidism. With aggressive thyroxine replacement for 1 month, all of the clinical features, along with elevated serum CK and creatinine levels, were completely resolved. This case highlights the fact that hypothyroidism must be kept in mind as a potential cause of concomitant myopathy and kidney injury, especially in patients with statin-resistant hypercholesterolemia.