OpenMed/multicare-articles huggingface dataset:
Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
Authors: Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen, Huaxiang Shen
Journal: Mol Cytogenet (2020)
Keywords: 22q112 deletion syndrome, 22q112 duplication syndrome, chromosome analysis, prenatal diagnosis, single-nucleotide polymorphism-array analysis

Background:
22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndromes in the Chinese population.
Results:
We recruited 411 pregnant women who showed either abnormal prenatal ultrasound findings or positive prenatal BoBs™ results or who had given birth to a child with chromosomal abnormalities. SNP-array analysis and interphase FISH analysis identified five fetuses with 22q11.2 copy number variants (CNVs), three of which were 22q11.2 deletion syndrome (22q11.2DS) (3/411) and two of which were 22q11.2 duplication syndrome (22q11.2DupS). In all 5 cases of diagnosed 22q11.2 abnormalities, inheritance could not be identified because the parents did not undergo further testing.
Conclusion:
Our case reports provide a detection rate of 22q11.2 CNVs for fetuses with prenatal diagnostic indications, and early diagnosis of these two syndromes was essential for prenatal intervention in these cases. SNP-array technology is an effective tool in the prenatal diagnosis of 22q11.2 CNVs. The prenatal diagnosis of these two syndromes is helpful for early intervention, which is of great clinical significance.
Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course
Authors: Akash Kumar, Max Dougherty, Gregory M Findlay, Madeleine Geisheker, Jason Klein, John Lazar, Heather Machkovech, Jesse Resnick, Rebecca Resnick, Alexander I Salter, Faezeh Talebi-Liasi, Christopher Arakawa, Jacob Baudin, Andrew Bogaard, Rebecca Salesky, Qian Zhou, Kelly Smith, John I Clark, Jay Shendure, Marshall S Horwitz
Journal: PLoS One (2014)
MeSH terms: Anatomy / education, Education, Medical / methods, High-Throughput Nucleotide Sequencing / methods, Idiopathic Pulmonary Fibrosis / genetics, Mucin-5B / genetics, Sequence Analysis, DNA / methods, Case Reports, Research Support, Non-U.S. Gov't, Cadaver, Genome, Human, Humans, Idiopathic Pulmonary Fibrosis / pathology, Male, Middle Aged, Polymorphism, Single Nucleotide, White People / genetics, MUC5B protein, human, Mucin-5B

Even in cases where there is no obvious family history of disease, genome sequencing may contribute to clinical diagnosis and management. Clinical application of the genome has not yet become routine, however, in part because physicians are still learning how best to utilize such information. As an educational research exercise performed in conjunction with our medical school human anatomy course, we explored the potential utility of determining the whole genome sequence of a patient who had died following a clinical diagnosis of idiopathic pulmonary fibrosis (IPF). Medical students performed dissection and whole genome sequencing of the cadaver. Gross and microscopic findings were more consistent with the fibrosing variant of nonspecific interstitial pneumonia (NSIP), as opposed to IPF per se. Variants in genes causing Mendelian disorders predisposing to IPF were not detected. However, whole genome sequencing identified several common variants associated with IPF, including a single nucleotide polymorphism (SNP), rs35705950, located in the promoter region of the gene encoding mucin glycoprotein MUC5B. The MUC5B promoter polymorphism was recently found to markedly elevate risk for IPF, though a particular association with NSIP has not been previously reported, nor has its contribution to disease risk previously been evaluated in the genome-wide context of all genetic variants. We did not identify additional predicted functional variants in a region of linkage disequilibrium (LD) adjacent to MUC5B, nor did we discover other likely risk-contributing variants elsewhere in the genome. Whole genome sequencing thus corroborates the association of rs35705950 with MUC5B dysregulation and interstitial lung disease. This novel exercise additionally served a unique mission in bridging clinical and basic science education.
Trabectedin and Radiation Therapy for Cardiac Metastasis From Leiomyosarcoma: A Case Report and Review of the Literature
Authors: Ilaria Tortorelli, Federico Navarria, Antonio Di Maggio, Alberto Banzato, Chiara Lestuzzi, Luca Nicosia, Benedetta Chiusole, Antonella Galiano, Marta Sbaraglia, Vittorina Zagonel, Antonella Brunello
Journal: Front Oncol (2022)
Keywords: cardiac metastasis, chemotherapy, leiomyosarcoma, radiotherapy, trabectedin
MeSH terms: Case Reports

Leiomyosarcoma (LMS) is one of the most frequent subtypes of soft-tissue sarcomas (STSs). Metastatic spread to the heart in cancer patients carries a poor prognosis and there is no known effective treatment. Cardiac metastases of STSs are very rare. Here we present the case of a 55-year-old patient who underwent surgical resection of a retroperitoneal leiomyosarcoma and then developed widespread metastatic disease, treated with a combination of local treatment and systemic therapy. Three years after surgical resection she presented with a cardiac intraventricular mass, which was treated with radiation therapy, while receiving systemic therapy with trabectedin. Such combination therapy was well-tolerated and effective, allowing a substantial dimensional reduction which is perduring to date, 18 months after diagnosis of cardiac metastasis. Available literature and data point to the feasibility and good tolerability of radiation therapy and trabectedin in metastatic sarcoma, yet this is the first report on the effectiveness of the combination for the treatment of cardiac disease. The extended survival since a metastatic relapse (more than 3 years) is likely the result of integrated systemic and loco-regional treatment, which should be always discussed within the framework of a multiprofessional and multidisciplinary setting.
A New Differential Diagnosis: Synthetic Cannabinoid-Associated Gross Hematuria
Authors: Osamah Hasan, Ankit A Patel, James J Siegert
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

Recreational use of synthetic cannabinoids (SCs), also known as "K2" or "Spice," is becoming a major public-health concern due to their potential for abuse and harmful consequences. New substances are constantly being added to the content of SCs. The dearth of information on these newly added contents as they are introduced into the black market hinders risk assessments of these compounds. We report a highly unusual case of gross hematuria in a 28-year-old male patient after SC use. He was found to have a supratherapeutic INR with no history of prior anticoagulation. His hematuria resolved after four units of fresh-frozen plasma were administered. We include a literature review of the clinical effects of SCs and their possible mechanism of gross hematuria and management.
Fatal aluminium phosphide poisoning due to myocardial depression refractory to high dose inotropic support and intra-aortic balloon counterpulsation
Authors: J Chacko, C Shivaprasad
Journal: Indian J Crit Care Med (2008)
Keywords: aluminium phospide, intraaortic balloon counterpulsation, myocardial depression
MeSH terms: Case Reports

We report a case of aluminium phosphide poisoning that presented to us with refractory myocardial depression. This patient developed worsening circulatory failure that did not respond to inotropic or vasopressor support and intra-aortic balloon counterpulsation. She went on to develop progressive metabolic acidosis, renal failure and died within 48 hours of admission to the intensive care unit.
Use of Intraoperative Radioguidance in Recurrent Merkel Carcinoma
Authors: Michèle Beniey, Naomie Destrempes, Geneviève Coulombe, Mona El Khoury, Edgard Nassif
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Merkel cell carcinoma is a rapidly progressive nonmelanoma skin cancer with a high risk of recurrence. When recurrence occurs, it is associated with poor prognosis and there is a lack of guidelines for the management of such cases. This article describes a challenging case in which the innovative use of iodine-125 radioactive seeds permitted us to precisely identify and resect two nonpalpable recurrent nodules. The safety and accuracy of the surgical procedure were compromised by the presence of scar tissue following two past resections and two courses of radiotherapy. Radioactive seed localization is a well-known procedure in breast cancer, demonstrating potential for an extended application in other cancer types and in complex clinical situations.
Pathology of macular foveoschisis associated with degenerative myopia
Authors: Johnny Tang, Michael B Rivers, Andrew A Moshfeghi, Harry W Flynn, Chi-Chao Chan
Journal: J Ophthalmol (2010)
MeSH terms: Case Reports

This is a clinicopathological paper on the histologic findings in myopia-associated macular foveoschisis. The findings on ophthalmic pathological study of a 73-year-old woman with high myopia are reviewed. Multiple retinoschisis cavities involving both the macula and retinal periphery were disclosed. Our paper offers tissue evidence and supports recent ocular coherence tomography reports of eyes with high myopia and associated macular foveoschisis.
Utilization of whole genome sequencing for resolution of discrepant Mycobacterium tuberculosis drug susceptibility results: A case report
Authors: Susan Realegeno, Oladunni Adeyiga, Drew J Winston, Omer E Beaird, Omai B Garner, Shangxin Yang
Journal: IDCases (2021)
Keywords: dst, drug resistance prediction, mycobacterium tuberculosis, whole genome sequencing
MeSH terms: Case Reports

A 44-year-old woman undergoing therapy for acute promyelocytic leukemia (APL) developed disseminated tuberculosis. Mycobacterium tuberculosis (TB) was isolated from the blood and sputum. Initial drug susceptibility testing (DST) of the blood isolate revealed resistance to isoniazid and ethambutol but the sputum isolate showed no resistance. Due to drug resistance concerns, the patient was treated with multiple second and third-line drugs, and suffered from drug side effects. To further investigate the DST discrepancies, whole genome sequencing (WGS) was performed on both isolates. No known resistance mutations to first line or second line drugs were identified in either isolate, which was confirmed by additional susceptibility testing performed by a different reference laboratory and the California Department of Public Health (CDPH) laboratory. Treatment was reduced to a simpler and less toxic regimen due to these investigations. WGS is shown to be a valuable tool for resolving discordant phenotypic DST results of TB isolates and has the potential to provide accurate and timely results guiding appropriate therapy in the clinical setting.
Malignant Peripheral Nerve Sheath Tumor: MRI and CT Findings
Authors: K O Kragha
Journal: Case Rep Radiol (2015)

This is a case report of a 56-year-old male with hypertension who presented with urinary retention and bowel incontinence. CT and MRI of the abdomen and pelvis showed a large complex cystic and solid enhancing mass in the right presacral space. Pathology biopsy result showed malignant peripheral nerve sheath tumor (MPNST) with extensive necrosis. The diagnosis of MPNST is extremely difficult due to the lack of (1) conclusive immunohistochemistry or unique chromosomal anomaly, (2) universal distinctive histopathology, and (3) clinical criteria. The clinical, radiologic, and histologic presentation of MPNST is important in its diagnosis. A rare case of MPNST that produced urinary retention and bowel incontinence is presented that may aid clinicians in the diagnosis of this rare clinical entity. Motor weakness, central enhancement, and immunohistochemistry may assist in the diagnosis of MPNST and differentiation between benign peripheral nerve sheath tumor (BPNST) and MPNST.
A Combination Therapy for Kawasaki Disease with Severe Complications: a Case Report
Authors: Yuriko Abe, Mamoru Ayusawa, Kengo Kawamura, Ryuta Yonezawa, Masataka Kato, Akiko Komori, Ryutaro Kohira, Ichiro Morioka
Journal: Open Med (Wars) (2019)
Keywords: combination therapy, intravenous immunoglobulin-resistant kawasaki disease, methylprednisolone pulse, plasma exchange

Kawasaki disease (KD) is a form of acute multisystem vasculitis that presents with various complications, including coronary artery aneurysm. Heart failure and brain damage are rare, but life-threatening complications are associated with KD. Here, we describe a 4-year-old girl who developed intravenous immunoglobulin-resistant KD with both left ventricular failure and acute encephalopathy. On day 8 of the illness, the low left ventricular ejection fraction, mitral regurgitation, and low blood pressure, which required continuous administration of dobutamine, were observed during the treatments for KD, including intravenous immunoglobulin. She also appeared unconscious, where the electroencephalogram showed slow waves of activity in all regions of the brain. The cardiac performance improved after she received plasma exchange for three days. However, her unconsciousness with slow waves of activity on electroencephalogram and fever continued after the plasma exchange. Therefore, she was treated with methylprednisolone pulse, followed by prednisolone, as well as intravenous immunoglobulin. Finally, she recovered without any cardiac or neurological sequelae not only at the time she was discharged, but also throughout the follow-up period. The combination therapy using plasma exchange and methylprednisolone pulse may be a treatment option for severe KD with left ventricular failure and acute encephalopathy complications.
Huge Pseudoaneurysm of the Femoral Artery after Internal Fixation of Femoral Trochanteric Fracture
Authors: Hideyuki Kinoshita, Masayuki Hashimoto, Jiro Hirayama, Kouji Fujita, Yoshio Takeuchi, Junichi Iwasaki, Hironori Yamasaki, Mitsuhiro Kitamura, Seiji Ohtori, Tsuguo Morikawa
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Pseudoaneurysm is one of the most serious complications of femoral trochanteric fracture surgery. Since the rupture of pseudoaneurysm may lead to death, early detection is important. We report the case of an 80-year-old male who developed pain in the proximal thigh and severe swelling after internal fixation of a femoral trochanteric fracture with a hip nail. Angiography revealed a pseudoaneurysm of a branch of the deep femoral artery near the interlocking screw. The vascular lesion was immediately treated by transcatheter embolization, and the vascular leakage was completely resolved with catheter embolization. After embolization, the patient's clinical state improved rapidly, and the laboratory values improved to normal after several weeks. The current case study reminds us that pseudoaneurysm can occur after intramedullary nail placement to treat a femoral trochanteric fracture.
The Management of Erythrodermic Psoriasis Complicated by Cyclosporine
Authors: Suman Rao, Michelle Bernshteyn, Raman Sohal, Rachael Proumen, Alexandra Goodman, Zachary Shepherd
Journal: Case Rep Dermatol Med (2020)
MeSH terms: Case Reports

We present a 64-year-old woman with past medical history of psoriasis and alcoholic liver cirrhosis who presented with a diffuse, erythematous, and scaly rash. Pertinent medications included topical triamcinolone 0.1% cream. She was started on oral prednisone 40 milligrams (mg) and oral cyclosporine 150 mg daily and was continued on topical triamcinolone. After the administration of two doses of this regimen, the serum creatinine increased to 1.76 mg/dL, and serum potassium increased to 6.7 mEq/L. The serum creatinine continued to uptrend to 2.42 mg/dL, and the glomerular filtration rate (GFR) decreased to 20 mL/min. The patient was emergently hemodialyzed. The patient was placed on an extended steroid taper, alleviating the psoriatic rash. However, the patient needed to be placed on a steroid-sparing regimen. Because of its rarity and ensuing complications, erythrodermic psoriasis must be identified and managed promptly. Cyclosporine is currently the first-line treatment. However, initiation of this therapy in our patient resulted in an acute kidney injury (AKI). Even though a steroid taper assisted in alleviating erythroderma, a steroid-sparing regimen needed to be started. This led to the consideration of alternate methods of therapy for further management of erythrodermic psoriasis with renal impairment.
Internal Jugular Vein Injury by Fishbone Ingestion
Authors: Armin Amirian, Hamed Ghoddusi Johari, Mohamadreza Karoobi, Reza Shahriarirad, Keivan Ranjbar
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Fishbone ingestion is a common occurrence in the Middle East countries. We present a patient with a unique complication of fishbone ingestion. A 65-year-old woman presented with left-sided neck pain and swelling since 5 days before admission. A linear foreign body with horizontal orientation was seen in CT scan at the superior part of the pharynx along with a collection around it which caused a laceration on the medial aspect of internal jugular vein and thrombosis inside the internal jugular vein.
Kidney Autotransplantation for Treatment of Ureteric Obstruction: A Case Report and Brief Review of the Literature
Authors: Parth Joshi, Joanne Lin, Tej Sura, Posan S Limbu, Vatche Melkonian, Bahar Bastani, Chintalapati Varma
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Autologous kidney transplantation is a relatively rare procedure that has been used as an alternative treatment for a variety of complex genitourinary problems, in particular for the treatment of complex proximal ureteral strictures. In this case report, a 47-year-old male, who had undergone a living donor nephrectomy 14 years earlier, presented with episodes of acute kidney injury on chronic kidney disease. He was found to have a complex proximal ureter stricture of his solitary right kidney. He underwent nephrectomy with subsequent autotransplantation of the kidney into the right iliac fossa. His renal function improved significantly after surgery. Renal autotransplantation may be considered for the management of proximal ureteral obstruction when alternative options are contraindicated.
A case of laparoscopic excision of a huge retroperitoneal cystic lymphangioma
Authors: Yusuke Yagihashi, Keiji Kato, Kanji Nagahama, Masakazu Yamamoto, Hiroshi Kanamaru
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

Retroperitoneal cystic lymphangioma is a rare benign tumor. Most patients eventually experience some symptoms that necessitate therapeutic intervention. Excision is the treatment of choice, and some cases of laparoscopic resection have been reported. We report another case of a huge retroperitoneal cystic lymphangioma that was successfully excised laparoscopically with the SAND balloon catheter. Large cystic lymphangioma was downsized by puncturing and aspirated with the SAND balloon catheter. Laparoscopic surgical technique should be considered for treatment of selected cystic lesions of retroperitoneal origin.
Serous retinal detachment secondary to an unsuccessful transarterial embolization in a post-traumatic carotid-cavernous sinus fistula patient: A case report
Authors: Chia-Yi Lee, Wan-Ju Annabelle Lee
Journal: Front Med (Lausanne) (2022)
Keywords: ccf, tae, carotid-cavernous sinus fistula, diplopia, proptosis, serous retinal detachment, transarterial embolization
MeSH terms: Case Reports

A carotid-cavernous sinus fistula (CCF) is an abnormal communication between the cavernous sinus and the carotid arterial system. Direct CCFs arise from a direct connection between the cavernous sinus and the cavernous portion of the internal carotid artery. Nowadays, endovascular neurosurgery has become the first-line treatment modality for direct CCFs owing to the high complete obliteration rate. However, reversal of the clinical symptoms may not always be congruous after the endovascular intervention. Herein, we present a 50-year-old patient who manifested diplopia, ophthalmoplegia, and orbital congestion after a traffic accident. He had suffered head injury with right side frontal intracranial hemorrhage 1 month before the ophthalmic presentation. He came to our department primarily because of declining vision and for the above symptoms, and was diagnosed with direct type CCF, for which he received transarterial coil embolization. Unexpectedly, he later presented with serous retinal detachment accompanied by ocular ischemic syndrome secondary to recurrent CCF 1 month after the intervention, so repeat coil embolization was performed.
Bacillus cereus Subacute Native Valve Infective Endocarditis and Its Multiple Complications
Authors: Jemimah Nallarajah, M I Mujahieth
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Bacillus cereus causing infective endocarditis (IE) in a native valve is an extremely rare event, but it is reported mostly in intravenous drug abusers and other risk factors as immunosuppression, malignancy, and valvular heart disease including prosthetic heart valves. We report a case of B.cereus native mitral valve infective endocarditis in a 58-year-old Sri Lankan male who is not a drug abuser who presented with painless hematuria with reduced urine output. During hospital stay, he developed frequent episodes of brief focal seizures. He had undergone multiple investigations that revealed splenic abscesses, cerebral vasculitis, and glomerular nephritis with positive rheumatoid factor, cytoplasmic antineutrophil cytoplasmic antibody (C-ANCA), and cryoglobulin. The appropriate antibiotic was the prime therapeutic intervention which carried an excellent prognosis. This case highlights an unusual organism in the blood culture that caused IE warranting thorough physical examination and investigations.
Intensity-modulated radiotherapy for a rendu-osler-weber disease patient with recurrent severe epistaxis: a case report
Authors: Maximilian Niyazi, Marco-Domenico Caversaccio, Patrick Dubach, Andreas Geretschläger, Andreas Arnold, Claus Belka, Daniel M Aebersold, Norbert M Blumstein
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

We present a case of a Rendu-Osler-Weber disease patient with recurrent life threatening epistaxis demanding multiple blood transfusions despite of repetitive endoscopic laser and electrocoagulations, endovascular embolisation, septodermoplasty, and long-term intranasal dressings. As alternative treatment modalities repeatedly failed and the patient became almost permanently dependent on nasal dressing, we performed a highly conformal intensity-modulated radiotherapy of the nasal cavity; a total dose of 50 Gy in 2 Gy single fractions was applied. The therapy was very well tolerated, no acute toxicities occurred. Two weeks after the last radiation dose had been applied, the nasal dressing could be removed without problems. Endoscopical control revealed an almost avascular white mucosa without any trace of bleeding spots; previously existing hemangiomas and crusts had disappeared. After a 1-year-follow up, the patient had no significant recurrent epistaxis.