OpenMed/multicare-articles huggingface dataset:
Endobronchial lipoma
Authors: Lakshitha Anbazhakan, Asad Ullah, Rohit Munagala, Rabih Bechara, Islam Elhelf, Nikhil Patel, Nagla Abdel Karim
Journal: Autops Case Rep (2022)
Keywords: airway obstruction, bronchoscopy, lipoma
MeSH terms: Case Reports

Endobronchial lipomas are rare benign lung tumors that can cause bronchial obstruction and parenchymal damage. While an uncommon etiology, they are often misdiagnosed due to a clinical presentation similar to obstructive pulmonary pathologies such as COPD and asthma. Upon review of English-language literature, under 50 cases of endobronchial lipomas were documented in the prior 10 years (2011-2021). There are no clear guidelines regarding the management of this particular entity, but typically interventional debulking is the treatment of choice. Here we present another unique case of endobronchial lipoma along with our diagnostic and therapeutic methodology. The patient underwent bronchoscopic debulking via a cryotherapy probe. Based on the histopathologic analysis, a diagnosis of endobronchial lipoma was made. Endobronchial lipomas must remain in any clinician's differential when a patient presents with dyspnea. We report the unique location of this lipoma based on our literature review and the importance of investigating endobronchial lesions due to a possible diagnosis of endobronchial lipoma.
Torsion of a Large Myomatous Uterus Associated with Progressive Renal Failure and Paralytic Ileus in an 86-Year-Old Woman
Authors: Guiwen Wang, Hiroshi Ishikawa, Asuka Sato, Makio Shozu
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Uterine torsion of a nongravid uterus is rare, and proper diagnosis is challenging. Herein, we report a case of torsion of a large myomatous uterus in an 86-year-old woman who was presented with progressive renal failure and paralytic ileus. She was presented with abdominal discomfort, loss of appetite, and oliguria. A large myomatous uterus with broad calcification was identified when she underwent surgery to repair an umbilical hernia one year before the symptoms developed. Computed tomography revealed that one year later, the myomatous uterus significantly increased in size and the calcified lesion of the fibroid was largely displaced. She was also presented with paralytic ileus, and her general condition progressively worsened. Her serum creatinine levels were increased (3.5 mg/dL) and hemoglobin levels were low (8.5 g/dL). Emergency laparotomy revealed that the uterus was rotated 360 degrees clockwise at the level of the isthmus. The uterus was discolored, appearing dark red, and accompanied by broad congestion, and the cervix was elongated. The patient's renal function and ileus recovered after a hysterectomy. In conclusion, torsion of a large myomatous uterus could become life-threatening in an oldest-old woman, and early release of the torsion is necessary to avoid serious complications.
MUGA image artefacts caused by metallic injection ports in breast reconstruction tissue expanders: a report of two breast cancer patients
Authors: William Makis
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Expander-based breast reconstruction is a popular form of post-mastectomy reconstruction and involves the temporary subcutaneous implantation of breast tissue expanders that require periodic, incremental inflation with sterile saline by injection until the desired amount of tissue is developed. One type of tissue expander injection port system currently on the market is made of titanium and rare-earth magnets that enhance injection accuracy. These highly dense metallic materials, however, can cause attenuation artefacts on multiple gated acquisition cardiac studies. In this report, we present the cases of two breast cancer patients with artefacts on multiple gated acquisition scans, characteristic of these tissue breast expanders.
Surgical Treatment Outcomes of Unresolved Osgood-Schlatter Disease in Adolescent Athletes
Authors: Frederick Mun, William L Hennrikus
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

The purpose of this case series is to report the outcomes of ossicle excision and tubercleplasty for unresolved Osgood-Schlatter disease that has failed conservative treatment in six adolescent athletes. A retrospective chart review was completed, and data collected include age at onset of symptoms, age at surgery, sex, laterality, mechanism of injury, conservative treatment regimen, radiographic findings, sports played, time to return to sport, length of follow-up, and Lysholm score. Surgery involved an open ossicle excision, tubercleplasty, and repair of the patellar tendon to bone using a suture anchor. Postoperatively, patients were allowed to fully weight-bear in an extension knee brace for 4 weeks and then allowed to gradually resume activity. Four males and 2 females were studied. The right knee was involved in 3 cases and the left knee in 3. The average age at onset of symptoms was 15.8 (range 12-18) and at surgery was 17.3 (range 17-18). Radiographic findings included a large bump in 4 cases, an ossicle in 2, and free fragments at the tendon insertion in 3. Sports played included basketball, football, running, and dancing. All patients returned to sports at an average of 21 weeks and 6 days postsurgery (range 8-56). The average length of follow-up was 14.2 weeks (range 5-27). The average Lysholm score postsurgery was 97.2 (range 94-100). Surgical treatment of unresolved Osgood-Schlatter disease was successful in all patients. No patients reported any postoperative complications or additional surgery. For skeletally mature and symptomatic patients, we recommend removal of the ossicle and adjacent bursae, smoothing the bump, and repairing the patellar tendon to bone.
Changes in Intra-Amniotic, Fetal Intrathoracic, and Intraperitoneal Pressures with Uterine Contraction: A Report of Three Cases
Authors: Daisuke Katsura, Yuichiro Takahashi, Shigenori Iwagaki, Rika Chiaki, Kazuhiko Asai, Masako Koike, Shunsuke Yasumi, Madoka Furuhashi
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Intra-amniotic, fetal intrathoracic, and intraperitoneal pressures during pregnancy have been previously investigated. However, to our knowledge, changes in these pressures during uterine contractions have not been reported. Herein, we present three cases of polyhydramnios, fetal pleural effusion, and fetal ascites, in which intra-amniotic, fetal intrathoracic, intraperitoneal pressures increased with uterine contractions. These pressure increases may affect the fetal circulation. We suggest that managing potential premature delivery (e.g., with tocolysis) is important in cases with polyhydramnios and excess fluid in fetal body areas, such as the thorax, abdomen, and heart. The results of this preliminary study on intrafetal pressure measurements will be useful in performing fetal and neonatal surgeries in the future.
Acquired Peripheral Nerve Injury Findings in Critically Ill COVID-19 Patients
Authors: Louise Torres, Ângela Massignan, Ramon Gheno, Jônatas Fávero Prietto Dos Santos, Marcelo Vianna Raffo, Guilherme Jaquet Ribeiro
Journal: J Belg Soc Radiol (2022)
Keywords: covid-19, mr neurography, mri, electromyography, peripheral neuropathy
MeSH terms: Case Reports

We retrospectively analyzed clinical, NCS/EMG, and NMRI aspects of five COVID-19 intensive care unit inpatients that received mechanical ventilation. After awakening from sedation, they experienced peripheral neuromyopathic symptoms. Teaching Point: Acquired peripheral nerve injury has been described in COVID-19 infection and knowledge of the clinical, nerve conduction studies/electromyography (NCS/EMG) and neurographic magnetic resonance imaging (NMRI) findings are crucial.
Tuberculous Distal Biceps Tendon Rupture: Case Report and Review of the Literature
Authors: Artit Boonrod, Hiroyuki Sugaya, Norimasa Takahashi, Arunnit Boonrod, Chat Sumananont
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Tuberculous distal biceps tendon rupture is a rare condition in orthopedics. Musculoskeletal tuberculosis usually presents with bursitis, synovitis, myositis, and osteomyelitis, conditions which demonstrate an excellent response to antituberculosis chemotherapy. Tendon rupture is often associated with delayed diagnosis and treatment. We report a rare manifestation of musculoskeletal tuberculosis in the distal biceps tendon with delayed diagnosis.
Hysteroscopic sterilization of patient with intrauterine device Mirena®
Authors: Daniella De Batista Depes, Ana Maria Gomes Pereira, Salete Yatabe, Reginaldo Guedes Coelho Lopes
Journal: Einstein (Sao Paulo) (2013)
MeSH terms: Contraceptive Agents, Female / therapeutic use, Hysteroscopy / methods, Intrauterine Devices, Levonorgestrel / therapeutic use, Sterilization, Tubal / instrumentation, Case Reports, Adult, Device Removal, Female, Humans, Polyesters / therapeutic use, Reproducibility of Results, Sterilization, Tubal / methods, Treatment Outcome, Contraceptive Agents, Female, Polyesters, Levonorgestrel

Tubal sterilization is the definitive procedure most often used worldwide to control fecundity. Laparoscopic ligature is safe, but invasive and with possible surgical and anesthetic risks. The hysteroscopic approach enables tubal occlusion at outpatient's setting without the need of incisions or anesthesia. A microdevice (Essure®) is inserted directly into the tubes and its polyethelene fibers cause obstruction of tubes in about three months. During this period, it is recommended that patients continue the use of a temporary birth control method. Several women use the levonorgestrel-releasing intrauterine system, which is called in the market as Mirena®. This report evaluated the possibility of inserting Essure® without remove the intrauterine device; patient tolerance to the procedure was also assessed. The tubal device was successfully placed in the patient without the need to remove Mirena®. After three months the intrauterine device was removed with no intercurrent events.
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism
Authors: Simon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, Avraham Shaag, Yang-In Yim, Shamir Zenvirt, Chaim Jalas, Suzanne Lesage, Alexis Brice, Albert Taraboulos, Klaus H Kaestner, Lois E Greene, Orly Elpeleg
Journal: PLoS One (2012)
MeSH terms: Auxilins / genetics, HSP40 Heat-Shock Proteins / genetics, Mutation, Parkinsonian Disorders / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Auxilins / metabolism, Base Sequence, Clathrin / metabolism, DNA Mutational Analysis / methods, Family Health, HSP40 Heat-Shock Proteins / metabolism, Humans, Male, Molecular Chaperones / genetics, Molecular Chaperones / metabolism, Neurons / metabolism, Pedigree, Auxilins, Clathrin, DNAJC6 protein, human, HSP40 Heat-Shock Proteins, Molecular Chaperones

Parkinson disease is caused by neuronal loss in the substantia nigra which manifests by abnormality of movement, muscle tone, and postural stability. Several genes have been implicated in the pathogenesis of Parkinson disease, but the underlying molecular basis is still unknown for ∼70% of the patients. Using homozygosity mapping and whole exome sequencing we identified a deleterious mutation in DNAJC6 in two patients with juvenile parkinsonism. The mutation was associated with abnormal transcripts and marked reduced DNAJC6 mRNA level. DNAJC6 encodes the HSP40 Auxilin, a protein which is selectively expressed in neurons and confers specificity to the ATPase activity of its partner Hcs70 in clathrin uncoating. In Auxilin null mice it was previously shown that the abnormally increased retention of assembled clathrin on vesicles and in empty cages leads to impaired synaptic vesicle recycling and perturbed clathrin mediated endocytosis. Endocytosis function, studied by transferring uptake, was normal in fibroblasts from our patients, likely because of the presence of another J-domain containing partner which co-chaperones Hsc70-mediated uncoating activity in non-neuronal cells. The present report underscores the importance of the endocytic/lysosomal pathway in the pathogenesis of Parkinson disease and other forms of parkinsonism.
Rapid Whole Genome Sequencing of Serotype K1 Hypervirulent Klebsiella pneumoniae from an Undocumented Chinese Migrant
Authors: C K Macleod, F A Khokhar, B Warne, R Wick, R Butcher, B Cassimon, P Hayden, K Holt, M E Török
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Background:
Hypervirulent Klebsiella pneumoniae causes severe disseminated infections, typically with hepatic and central nervous system involvement including endophthalmitis. Case Presentation. We report a fatal case of an undocumented Chinese migrant in her 60s who presented to the emergency department with abdominal pain, lethargy, and headache over the preceding two weeks. She had a new diagnosis of diabetes mellitus on admission. Computed tomography scan of the thorax, abdomen, and pelvis showed bilateral pneumonia with liver abscesses. The patient was treated with empirical broad-spectrum antibiotics before K. pneumoniae was isolated from cerebrospinal fluid and blood cultures. The isolate was further characterised as a ST23 (ST: sequence type), serotype K1 hypervirulent strain using Nanopore sequencing. Despite admission to the intensive care unit, the patient died within 48 hrs of admission.
Conclusions:
This case demonstrates the need for increased awareness of hypervirulent K. pneumoniae, even in countries where it occurs infrequently. Novel, rapid, sequencing technologies can support diagnosis in unusual presentations.
A new treatment approach - Eplerenone - in central serous chorioretinopathy - Case report
Authors: M Cioboata, C Alexandrescu, C A Hopinca, M C Pienaru, A Merticariu, S Schmitzer
Journal: J Med Life (2016)
Keywords: eplerenone, central serous chorioretinopathy, mineralocorticoid receptors
MeSH terms: Central Serous Chorioretinopathy / drug therapy, Mineralocorticoid Receptor Antagonists / therapeutic use, Spironolactone / analogs & derivatives, Case Reports, Eplerenone, Humans, Male, Middle Aged, Spironolactone / therapeutic use, Mineralocorticoid Receptor Antagonists, Spironolactone, Eplerenone

We report the case of a 46-year-old patient, medical doctor with a relapsing unilateral CRSC-Central Serous Chorioretinopathy who was treated after an initial medical therapy (oral carbonic anhydrase inhibitor, oral antihistamines, non-steroidal anti-inflammatory drugs - systemic and topical), with an oral aldosterone antagonist-Eplerenone (Inspra), resulted in significant anatomic and visual improvements. Abbreviations: CRSC = Central Serous Chorioretinopathy, R.E. = right eye, L.E. = left eye, BCVA = best corrected visual acuity, RPE = retinal pigment epithelium, OCT = optical coherence tomography, FDA = food and drug administration.
Primary pulmonary mucinous cystadenocarcinoma: a case report
Authors: Andreas Efstathiou, Christos Asteriou, Nikolaos Barbetakis, Dimosthenis Miliaras, Athanassios Kleontas, Christos Karvelas, Miltiadis Lalountas
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Primary pulmonary mucinous cystadenocarcinoma (PMCAC) is an extremely rare cystic neoplasm. A case of a 56-year-old male with a cystic lesion of the right lower lobe is described. Preoperative fine needle aspiration cytology and bronchoscopy were inconclusive. The patient underwent a formal right lower lobectomy and mediastinal lymph node dissection. Diagnosis was established intraoperatively. The biological behavior of primary PMCAC is unknown. Therefore, careful long-term follow-up is considered necessary because of lack of experience globally.
Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant
Authors: Pingli Zhang, Di Cui, Peiyuan Liao, Xiang Yuan, Nuan Yang, Yuanyuan Zhen, Jing Yang, Qikun Huang
Journal: Front Pediatr (2021)
Keywords: id, mrd55, nus1, epilepsy, whole-exome sequencing
MeSH terms: Case Reports

The mental retardation-55 with seizures (MRD55) is a rare genetic disease characterized by developmental delay, intellectual disability, language delay and multiple types of epileptic seizures. It is caused by pathogenic variants of the NUS1 gene, which encodes Nogo-B receptor (NgBR), a necessary subunit for the glycosylation reactions in mammals. To date, 25 disease-causing mutations of NUS1 have been reported, which are responsible for various diseases, including dystonia, Parkinson's disease, developmental and epileptic encephalopathy as well as congenital disorder of glycosylation. In addition, only 9 of these mutations were reported with detailed clinical features. There are no reports about Chinese cases with MRD55. In this study, a novel, de novo pathogenic variant of NUS1 (c.51_54delTCTG, p.L18Tfs*31) was identified in a Chinese patient with intellectual disability and epileptic seizures. This pathogenic variant resulted in truncated NgBR proteins, which might be the cause of the clinical features of the patient. Oxcarbazepine was an effective treatment for improving speech and movement of the patient, who consequently presented with no seizure. With this novel pathogenic variant found in NUS1, we expand the genotype spectrum of MRD55 and provide valuable insights into the potential genotype-phenotype correlation.
Altered knee joint mechanics in simple compression associated with early cartilage degeneration
Authors: Y Dabiri, L P Li
Journal: Comput Math Methods Med (2013)
MeSH terms: Cartilage, Articular / physiopathology, Knee Joint / anatomy & histology, Knee Joint / physiology, Osteoarthritis / physiopathology, Research Support, Non-U.S. Gov't, Algorithms, Biomechanical Phenomena, Bone and Bones / pathology, Cartilage / pathology, Compressive Strength, Computer Simulation, Femur / pathology, Humans, Models, Theoretical, Permeability, Pressure, Software, Stress, Mechanical, Tibia / pathology

The progression of osteoarthritis can be accompanied by depth-dependent changes in the properties of articular cartilage. The objective of the present study was to determine the subsequent alteration in the fluid pressurization in the human knee using a three-dimensional computer model. Only a small compression in the femur-tibia direction was applied to avoid numerical difficulties. The material model for articular cartilages and menisci included fluid, fibrillar and nonfibrillar matrices as distinct constituents. The knee model consisted of distal femur, femoral cartilage, menisci, tibial cartilage, and proximal tibia. Cartilage degeneration was modeled in the high load-bearing region of the medial condyle of the femur with reduced fibrillar and nonfibrillar elastic properties and increased hydraulic permeability. Three case studies were implemented to simulate (1) the onset of cartilage degeneration from the superficial zone, (2) the progression of cartilage degeneration to the middle zone, and (3) the progression of cartilage degeneration to the deep zone. As compared with a normal knee of the same compression, reduced fluid pressurization was observed in the degenerated knee. Furthermore, faster reduction in fluid pressure was observed with the onset of cartilage degeneration in the superficial zone and progression to the middle zone, as compared to progression to the deep zone. On the other hand, cartilage degeneration in any zone would reduce the fluid pressure in all three zones. The shear strains at the cartilage-bone interface were increased when cartilage degeneration was eventually advanced to the deep zone. The present study revealed, at the joint level, altered fluid pressurization and strains with the depth-wise cartilage degeneration. The results also indicated redistribution of stresses within the tissue and relocation of the loading between the tissue matrix and fluid pressure. These results may only be qualitatively interesting due to the small compression considered.
A Rare Case of Clear Cell Carcinoma, Müllerian Type in the Renal Pelvis of a 21-Year-Old Woman
Authors: Diandra Perez, Rana Naous
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

Clear Cell Carcinomas of Müllerian origin are extremely rare within the upper urinary system. Their morphology is identical to that of the Clear Cell Carcinomas of the female genital tract. When they arise in the urinary tract, it is thought to be due to ectopic Müllerian embryogenesis. Here, we present a case of a 21-year-old woman with a Clear Cell Carcinoma, Müllerian type, arising from the renal pelvis. Histologically, it consisted of tubulopapillary architecture with associated foamy macrophages and a mucinous background. The neoplastic cells exhibited variably sized round nuclei with prominent nucleoli, eosinophilic to vacuolated cytoplasm with occasional intracytoplasmic mucin vacuoles, and a hobnail appearance. Immunohistochemical stains showed that the neoplastic cells were positive for Pax-8, p53, CK7, HMWK 903, and INI-1 and focally positive for p504s (AMACR). The neoplastic cells were negative for GATA-3, CK5/CK6, p63, CK20, and CDX-2 immunostains, ruling out urothelial or enteric phenotype. Additional immunostains performed by an outside institution showed that the neoplastic cells were positive for HNF-1β. The overall morphology and immunophenotype were consistent with Clear Cell Carcinoma of Müllerian origin arising from the renal pelvis. Follow-up revealed no metastasis or other tumor sites, supporting that this was the primary location.
Intra-abdominal focal fat infarction of the omentum: diagnosis and percutaneous management
Authors: V Chauhan, J A Stephenson, V Shah
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

We present a case of a 68-year-old female who presented with left iliac fossa pain and postprandial vomiting for 7 days. Initial CT scan revealed a large mass within the upper abdomen in close proximity to the pancreatic tail, with central fat density, marginal enhancement, a distended vessel coursing through the centre and hazy increased density of the fat outside of the structure. A diagnosis of intra-abdominal focal fat infarction (IFFI) was made and she was treated conservatively. Subsequently, she re-presented with further pain and elevated inflammatory markers. A repeat CT scan again demonstrated the well-defined mass, but now with the development of fluid attenuation within the centre and several pockets of air. Radiologically guided percutaneous drains were inserted into the area of liquefaction and subsequent microbiology analysis revealed mixed coliform bacilli; targeted antibiotics were administered. The collection resolved on subsequent imaging. Identification of radiological features of IFFI is very helpful in establishing a diagnosis and may negate the need for surgical intervention.