OpenMed/multicare-articles huggingface dataset:
Case Report: Transcatheter Aortic Valve Replacement in a Patient With Severe Aortic Stenosis, Left Ventricular Dysfunction, and an Anomalous Left Circumflex Artery
Authors: Badreyah Aldauig, Mohammed El-Sabbah, Mirvat Alasnag
Journal: Front Cardiovasc Med (2021)
Keywords: anomalous coronary arteries, cardiac catheterization, cardiac computed tomographic, echocardiography, transcatheter aorta valve replacement
MeSH terms: Case Reports

The role of cardiac computed tomography in the evaluation of patients for transcatheter aortic valve implantation is well-established. However, its role in the evaluation of anomalous vessels in the pre-procedure planning, intra-procedural fusion imaging and post-procedure assessment of vessel patency is not yet defined. This case report illustrates the utility of cardiac CT throughout the management of complex structural interventions. Here, we describe an anomalous left coronary artery where the course of the anomalous vessel and its proximity to the aortic valve annulus is defined allowing the selection of the most appropriate balloon expandable valve with a planned deployment. Upon follow up, patency of this anomalous vessel is ascertained using CT as well as the transcatheter valve function and leaflet thickening.
Colonic Perforation Secondary to Gallstone Impaction in the Sigmoid Colon
Authors: Paschalis Gavriilidis, Abhilash Paily
Journal: Case Rep Surg (2023)
MeSH terms: Case Reports

Introduction:
Gallstone sigmoid ileus is a very rare manifestation of large bowel obstruction. Mainly, three conditions predispose the manifestation of the entity; in particular, an episode of cholecystitis causing cholecysto-colonic fistula; a large gallstone; and narrowing of the sigmoid colon secondary to diverticular disease or malignancy. Case Report. An 82-year-old man presented to the emergency department with a one-week history of severe constipation, tachypnoea, tachycardia, hypotension, and high lactate. Physical examination demonstrated cyanosed upper and lower extremities and palpation of the abdomen revealed signs of peritonism, abdominal distention, and guarding. Computerized tomography scan demonstrated perforation of the hollow viscus organ secondary to impaction of the large gallstone in the sigmoid colon. Laparotomy revealed sigmoid perforation and widespread feculent peritonitis. The patient underwent Hartmann's procedure. After the intervention gave concerns regarding the patient's haemodynamic stability, he was transferred to the intensive care unit. The patient passed away on the third postoperative day due to complications secondary to haemodynamic instability.
Conclusions:
Patients with early diagnosed uncomplicated sigmoid gallstone ileus can be managed with endoscopic mechanical lithotripsy. In case of failure, open or laparoscopic enterolithotomy can be applied. However, when patients present with complications, surgery should not be delayed. In our case, Hartmann's procedure was an absolute indication due to sigmoid perforation and widespread feculent peritonitis.
Pulmonary Kaposi Sarcoma: An Uncommon Cause of Respiratory Failure in the Era of Highly Active Antiretroviral Therapy-Case Report and Review of the Literature
Authors: Stanley M Nwabudike, Stefan Hemmings, Yonette Paul, Yordanis Habtegebriel, Octavius Polk, Alem Mehari
Journal: Case Rep Infect Dis (2016)

Kaposi Sarcoma (KS) is the most common malignancy associated with Acquired Immune Deficiency Syndrome (AIDS) and is caused by Human Herpesvirus 8 (HHV 8) or Kaposi Sarcoma Herpesvirus (KSHV). In about 90% of cases Kaposi Sarcoma is associated with cutaneous lesions; however visceral disease can occur in the absence of cutaneous involvement. In the era of Highly Active Antiretroviral Therapy (HAART), the incidence of KS has declined. Clinical features of pulmonary KS might be difficult to distinguish from pneumonia in the immunocompromised patients and could lead to diagnostic challenges. First-line treatment of KS is with HAART and the incidence has declined with its use. Systemic chemotherapy may play a role depending on the extent of the disease. We report the case of a young man who presented with pulmonary symptoms and was later found to have pulmonary KS. Interestingly this diagnosis was made in the absence of the classic skin lesions. His disease was complicated by progressive respiratory failure and he eventually died.
Oral Lichen Planus and Polycythemia: Possible Association
Authors: Yassine Oueslati, Raouaa Belkacem Chebil, Haifa Regaieg, Lamia Oualha, Nabiha Douki
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Oral lichen planus is a chronic inflammatory disease of established immune-mediated pathogenesis that affects the oral mucosa. Polycythemia is a nonaggressive myeloproliferative disorder, characterized by an increase in red blood cell mass, often with uncontrolled production of granulocytes and platelets. Their association was rarely mentioned in the scientific literature. The aim of this paper was to report their occurrence in a 52-year-old male patient. Although a casual connection cannot be excluded, both diseases share many similarities in the immune dysfunctions involved in their pathogenesis and their clinical features. Such a hypothesis remains to be demonstrated by further studies. The presence of oral lesions should alert the clinicians in the process of identifying and early diagnosing these diseases. Thus, complications can be prevented and treatment can be started at an early stage, avoiding further damage.
Liver Transplant for Unusually Large Polycystic Liver Disease: Challenges and Pitfalls
Authors: Pablo Serrano Rodriguez, Alfred Sidney Barritt IV, David Allen Gerber, Chirag Sureshchandra Desai
Journal: Case Rep Transplant (2018)
MeSH terms: Case Reports

Patients with polycystic liver disease are described in the literature as both recipient and donor for liver transplant. Due to well-preserved liver function, it is often difficult for these patients to receive an organ. Livers of these patients are often large and heavier than a normal organ. We describe two cases who had exceedingly large livers, weighing 14 and 19 kg. To the best of our knowledge and search, these are some of the heaviest explanted livers, and one of the patients incidentally received a liver from a donor with ADPKD. The aim of this report is to discuss the challenges and pitfalls of evaluating and listing, technical aspect of the transplant, possibility of transplanting a liver from a donor with a genetic cystic disease to a cystic disease recipient, and the related literature with some highlights on the facts from UNOS/OPTN data.
Fibrinogen storage disease without hypofibrinogenemia associated with estrogen therapy
Authors: Z Simsek, O Ekinci, M Cindoruk, T Karakan, B Degertekin, G Akyol, S Unal
Journal: BMC Gastroenterol (2005)
MeSH terms: Endoplasmic Reticulum / metabolism, Estrogen Replacement Therapy / adverse effects, Fibrinogen / metabolism, Metabolic Diseases / chemically induced, Case Reports, Adult, Female, Humans, Immunohistochemistry, Inclusion Bodies / ultrastructure, Liver / metabolism, Liver / pathology, Liver / ultrastructure, Liver Cirrhosis / etiology, Liver Cirrhosis / pathology, Metabolic Diseases / complications, Metabolic Diseases / metabolism, Metabolic Diseases / pathology, Microscopy, Electron, Necrosis, Fibrinogen

Background:
Cytoplasmic inclusion bodies within hepatocytes may have different etiologies, including the Endoplasmic Reticulum Storage Diseases (ERSDs). ERSD is a pathological condition characterized by abnormal accumulation of proteins destined for secretion in the endoplasmic reticulum of hepatocytes; it may be congenital (primary) or acquired (secondary). Fibrinogen storage disease is a form of ERSD.
Case presentation:
We present a case of fibrinogen storage disease secondary to estrogen replacement therapy. Its causal relationship to the drug is shown by histological, immunohistochemical and ultrastructural studies of paired liver biopsies obtained during and after the drug therapy.
Conclusion:
The liver biopsies of patients with idiopathic liver enzyme abnormalities should be carefully evaluated for cytoplasmic inclusion bodies and, although rare, fibrinogen deposits.
A Horned Viper Bite Victim with PRES
Authors: Ahmed Mustafa Ibrahim, Tarek Talaat ElSefi, Maha Ghanem, Akram Muhammad Fayed, Nesreen Adel Shaban
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Neurological complications of snake bites have been well documented in the literature as neuromuscular paralysis and cerebrovascular complications; posterior reversible encephalopathy syndrome was rarely described. A 23-year-old lady presented near full term of her pregnancy with a horned snake Cerastes cerastes bite; after successful delivery she started complaining of altered mental status and visual disturbance with ulceration over the site of the snake bite. On admission, the patient had Glasgow Coma Score of 12, blood pressure 130/80 mmHg, temperature 38°C, sinus tachycardia at 120 beats per minute, severe dehydration, and reduction in visual acuity to "hand motion" in both eyes with poor light projection and sluggish pupillary reactions. CT brain was not conclusive; MRI revealed features of PRES. Treatment was mostly supportive within one week; the patient regained consciousness; visual disturbance, however, persisted. This patient as well as the few previously described cases highlights PRES as a possible complication of snake bites.
The First Successful Transcatheter Closure of an Inferior Sinus Venosus Defect with Anomalous Drainage of the Right Lower Pulmonary Vein Using Bare and Covered Stents: A Single-Case Report
Authors: Kritvikrom Durongpisitkul, Paweena Chungsomprasong, Porntip Panjasamanvong, Somrach Thamtorawat
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

Inferior sinus venosus defect (SVD) is less common than a superior one. The lower edge of the defect straddles the orifice of the inferior vena cava, and this makes surgical repair via bicaval cannulation a technical challenge. The orifice of the unroofed right pulmonary vein is caused by the interatrial communication in sinus venosus defects which results in partial anomalous pulmonary vein drainage (PAPVD). Novel transcatheter closure of a superior SVD has recently been described; however, transcatheter closure of an inferior SVD has not yet been reported in the published literature. Here, we report the first successful transcatheter closure of an inferior SVD with bare and covered stents and the rerouting of a PAPVD into the left atrium to avoid occlusion of the hepatic veins. In this single-case report, we carefully describe the planning process, how the procedure was performed, and the steps taken to recapture and reposition a migrated stent. Careful patient selection and intensive assessment of pulmonary and hepatic vein anatomy before and during the procedure were necessary to achieve a successful outcome.
Case Report: The First Report of NUP214-ABL1 Fusion Gene in Acute Myeloid Leukemia Patient Detected by Next-Generation Sequencing
Authors: Huan-Ping Wang, Jun-Jun He, Qiao-Yun Zhu, Lin Wang, Jian-Hu Li, Jian-Song Huang, Wan-Zhuo Xie, Hong-Hu Zhu, Jie Jin
Journal: Front Oncol (2021)
Keywords: abl1, nup214-abl1, acute myeloid leukemia, next-generation sequencing, tyrosine kinase
MeSH terms: Case Reports

The NUP214-ABL1 fusion gene is a constitutively active tyrosine kinase that can be detected in 6% of T-cell acute lymphoblastic leukemia (T-ALL) patients, and it can also be found in B-cell acute lymphoblastic leukaemia (B-ALL). However the NUP214-ABL1 fusion in acute myeloid leukemia (AML) has not yet been reported. Up to now, the sensitivity of NUP214-ABL1-positive patients to tyrosine kinase inhibitor (TKI) is still controversial. Here we report the first case of an AML patient carrying NUP214-ABL1 fusion gene. The conventional AML chemotherapy regimen for the patient was successful. Identification of additional AML patients with NUP214-ABL1 fusion gene will provide treatment experience and prognostic evaluation.
Internal maxillary artery pseudoaneurysm: a near fatal complication of seemingly innocuous pharyngeal trauma
Authors: M P Hennus, L Speleman
Journal: Case Rep Crit Care (2011)
MeSH terms: Case Reports

A 2-year-old boy presented with persistent pain and oral blood loss after falling with a toothbrush in his mouth. Initial routine inspection of the oropharynx showed no abnormalities. Recurrent blood loss instigated a reinspection under general anesthesia revealing the head of the toothbrush embedded in the nasopharynx. The toothbrush was removed without problems but several hours later a near fatal rebleeding occurred, requiring aggressive fluid resuscitation. Subsequently, the patient was transferred to our pediatric intensive care unit for further evaluation and treatment. CT angiography (CTA) showed a pseudoaneurysm of the internal maxillary artery which was successfully coiled, and further recovery was uneventful. Pediatric pharyngeal trauma is a common entity with rare, but potentially life-threatening, complications. In case of pharynx lesions, bleeding, and persistent pain, flexible endoscopy by an otolaryngologist is mandatory. In case of persistent bleeding vascular imaging is essential with CTA being a reliable alternative for the more invasive angiography.
Enteric-type adenocarcinoma of the lung harbouring a novel KRAS Q22K mutation with concomitant KRAS polysomy: a case report
Authors: Giulio Metro, Emanuele Valtorta, Annamaria Siggillino, Calogero Lauricella, Matteo Cenci, Vienna Ludovini, Elisa Minenza, Enrico Prosperi, Biagio Ricciuti, Alberto Rebonato, Alessandra Bassetti, Lucio Crinò
Journal: Ecancermedicalscience (2015)
Keywords: dna sequencing, kras, enteric-type adenocarcinoma, gene mutation, non-small cell lung cancer
MeSH terms: Case Reports

This case describes a novel KRAS Q22K mutation with simultaneous KRAS polysomy in a patient with advanced, enteric-type, adenocarcinoma of the lung. Despite the administration of systemic chemotherapy, the disease underwent rapid progression and led to the patient's death in a short period of time. Such an aggressive clinical course suggests that, in this specific case, KRAS dependency was the major genetic driver of poor prognosis. Direct deoxy ribonucleic acid (DNA) sequencing of the KRAS gene allows for the detection of novel KRAS mutations, and it might be advocated in patients with advanced non-small cell lung cancer in view of the emerging role of KRAS as a potential therapeutic target.
Pulmonary Alveolar Proteinosis due to Familial Myelodysplastic Syndrome with resolution after stem cell transplant
Authors: Amjad Basheer, Eduardo Messias Hirano Padrao, Kangwook Huh, Susan Parker, Tejal Shah, Daniel A Gerardi
Journal: Autops Case Rep (2022)
Keywords: bronchoalveolar lavaga, gata2 deficiency, myelodysplastic syndromes, pulmonary alveolar proteinosis, stem cell transplantation
MeSH terms: Case Reports

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.
Sciatica due to Schwannoma at the Sciatic Notch
Authors: Yavuz Haspolat, Feyza Unlu Ozkan, Ismail Turkmen, Bahattin Kemah, Yalcin Turhan, Serhan Sarar, Korhan Ozkan
Journal: Case Rep Orthop (2013)

Schwannomas are rarely seen on the sciatic nerve and can cause sciatica. In this case report we aimed to present an unusual location of schwannoma along sciatic nerve that causes sciatica. A 60-years-old-man was admitted to us with complaints of pain on his thigh and paresthesia on his foot. Radiography of the patient revealed a solitary lesion on the sciatic nerve. The lesion was excised and the symptoms resolved after surgery.
Management of Thrombosis Risk in a Carrier of Hemophilia A with Low Factor VIII Levels with Atrial Fibrillation: A Clinical Case and Literature Review
Authors: Nigel P Murray, Lorena Muñoz, Simona Minzer, Marco Antonio Lopez
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Nonvalvular atrial fibrillation (AF) is a common age-related arrthymia and a leading cause of stroke in the elderly; with an aging hemophilia population, the number of patients developing AF is increasing. There are no controlled trials on thromboprophylaxis in this group of patients, only consensus opinion was based on small case reports. We present a female patient, carrier for hemophilia and with clinically moderately severe hemophilia who developed FA. We discuss the literature with respect to this group of patients and current recommendations for thromboprophylaxis.
Adrenal Incidentalomas with Supraphysiologic Response to ACTH Stimulus: A Case Report
Authors: Marianna Antonopoulou, Asya Perelstein
Journal: Case Rep Endocrinol (2012)

We present the diagnostic approach of a patient with adrenal incidentalomas. A 72-year-old African American male had a CT scan of the abdomen showing right and left adrenal masses measuring 5 × 3.5 cm and 3.7 × 2.9 cm, respectively. The patient had negative hormonal workup. The radiologist insisted that the CT findings are consistent with adrenal hyperplasia, and therefore he underwent ACTH stimulation to rule out late-onset congenital adrenal hyperplasia (CAH). The stimulation test revealed that 17-hydroxyprogesterone and 11-deoxycortisol increased to levels high enough to confirm CAH, but cortisol had exaggerated response as well, thus making the diagnosis of CAH unlikely where metabolism is shifted to precursors. Subsequently, the patient underwent screening for Cushing's syndrome (CS) with a dexamethasone suppression test. Patient failed the suppresion test, raising the issue for subclinical CS (SCS), likely due to ACTH-independent macronodular adrenal hyperplasia. Our patient had been diagnosed with MGUS and so far there are only 3 case reports of extramedullary plasmacytoma arising from the adrenals. One was bilateral and one had functional abnormalities. Our differential diagnosis includes subclinical CS with aberrant receptors versus a functioning extramedullary plasmacytoma.
Case report: Conservative treatment for fertility preservation in a woman with hemoperitoneum due to an invasive mole
Authors: Linjuan Xu, Min Feng, Jing Cai, Hongmei Li
Journal: Front Oncol (2022)
Keywords: case report, conservative treatment, hemoperitoneum, invasive mole, uterine rupture
MeSH terms: Case Reports

Background:
Invasive moles are a subtype of gestational trophoblastic neoplasia (GTN) that usually develops after hydatidiform molar pregnancies. Uterine rupture in high-risk GTN is a rare and potentially catastrophic event. The treatment of invasive mole perforation with uterine rupture is particularly challenging in young women who desire fertility preservation.
Case presentation:
We present the case of a 22-year-old woman with a rapidly transformed invasive mole after two evacuations for a complete molar pregnancy. Within 21 days of the second molar evacuation, the serum β-hCG level surged from 5,718 mIU/ml to 444,617 mIU/ml. An ultrasonography examination showed the uterus was 9.2×8.9×7.8 cm in size with an uneven echo area of 6.9×5.2 cm near the fundus of the uterine cavity; the convex anterior wall had no normal muscle layer, and the outer margin was about 0.24 cm from the serosal layer. The patient was diagnosed with an invasive mole. Since she desired fertility preservation, we proposed a methotrexate (MTX) chemotherapy regimen. Before the planned chemotherapy, she experienced sudden abdominal pain accompanied by a blood pressure of 76/48 mmHg and a pulse rate of 116 bpm. An emergency abdominal ultrasound scan showed acute intra-abdominal bleeding (approximately 2,000 ml), and blood tests showed a hemoglobin concentration of 7.9 g/dL. Immediate uterine artery embolization was performed, and 35 mg MTX was administered bilaterally through the uterine arteries. The next day, the serum β-hCG decreased to 83,530 mIU/ml, and the vital signs remained stable. Seven days later, the patient received a combination of etoposide, methotrexate, dactinomycin, cyclophosphamide, and vincristine (EMACO), and the serum β-hCG level normalized after cycle five. At the 13-month follow-up after therapy completion, the woman was disease-free with a normal β-hCG level.
Conclusion:
Our experience highlights the potential feasibility and efficacy of conservative treatment for fertility preservation in such scenarios.
A case report of Merkel cell carcinoma on chronic lymphocytic leukemia: differential diagnosis of coexisting lymphadenopathy and indications for early aggressive treatment
Authors: K I Papageorgiou, M G Kaniorou-Larai
Journal: BMC Cancer (2005)
MeSH terms: Carcinoma, Merkel Cell / diagnosis, Leukemia, Lymphocytic, Chronic, B-Cell / diagnosis, Lymphatic Diseases / diagnosis, Case Reports, Aged, 80 and over, Carcinoma, Merkel Cell / complications, Diagnosis, Differential, Humans, Immunohistochemistry, Leukemia, Lymphocytic, Chronic, B-Cell / complications, Lip Neoplasms / metabolism, Lip Neoplasms / pathology, Lymphatic Diseases / complications, Lymphatic Metastasis, Male, Neoplasm Metastasis, Recurrence, Skin Neoplasms / complications, Skin Neoplasms / diagnosis

Background:
Chronic lymphocytic leukemia (CLL) is a monoclonal disorder, characterized by a progressive proliferation of functionally incompetent B lymphocytes. There is increased evidence of association between CLL and skin cancers, including the uncommon Merkel cell carcinoma (MCC).
Case presentation:
A case report of an 84-year old male, who presented with an aggressively recurrent form of MCC on the lower lip, on the background of an 8-year history of untreated CLL. During the recurrences of MCC, coexisting regional lymphadenopathy, posed a problem in the differential diagnosis and treatment of lymph node involvement. Histopathology and immunoistochemistry showed that submandibular lymphadenopathy coexisting with the second recurrence of MCC, was due to B-cell small lymphocytic lymphoma. The subsequent and more aggressive recurrence of the skin tumor had involved the superficial and deep cervical lymph nodes. Surgical excision followed by involved field radiation therapy has been proven effective for both malignancies.
Conclusion:
MCC has a high incidence of regional lymphadenopathy at presentation (12-45%) and even when it arises on the background of chronic leukemia, lymphadenopathy at presentation should be managed agressively with elective lymph node dissection. We overview the postulated correlation between Merkel tumor and CCL, the differential diagnosis of regional lymphadenopathy during the recurrences of the skin tumor and the strategies of treatment.