OpenMed/multicare-articles huggingface dataset:
Identification of autoantibodies against TRPM1 in patients with paraneoplastic retinopathy associated with ON bipolar cell dysfunction
Authors: Mineo Kondo, Rikako Sanuki, Shinji Ueno, Yuji Nishizawa, Naozumi Hashimoto, Hiroshi Ohguro, Shuichi Yamamoto, Shigeki Machida, Hiroko Terasaki, Grazyna Adamus, Takahisa Furukawa
Journal: PLoS One (2011)
MeSH terms: Autoantibodies / immunology, Paraneoplastic Syndromes / immunology, Paraneoplastic Syndromes / physiopathology, Retinal Bipolar Cells / pathology, Retinal Diseases / immunology, Retinal Diseases / physiopathology, TRPM Cation Channels / immunology, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Aged, Blotting, Western, Electroretinography, Humans, Male, Melanoma / blood, Paraneoplastic Syndromes / blood, Paraneoplastic Syndromes / complications, Retinal Diseases / blood, Retinal Diseases / complications, TRPM Cation Channels / blood, Autoantibodies, TRPM Cation Channels, TRPM1 protein, human

Background:
Paraneoplastic retinopathy (PR), including cancer-associated retinopathy (CAR) and melanoma-associated retinopathy (MAR), is a progressive retinal disease caused by antibodies generated against neoplasms not associated with the eye. While several autoantibodies against retinal antigens have been identified, there has been no known autoantibody reacting specifically against bipolar cell antigens in the sera of patients with PR. We previously reported that the transient receptor potential cation channel, subfamily M, member 1 (TRPM1) is specifically expressed in retinal ON bipolar cells and functions as a component of ON bipolar cell transduction channels. In addition, this and other groups have reported that human TRPM1 mutations are associated with the complete form of congenital stationary night blindness. The purpose of the current study is to investigate whether there are autoantibodies against TRPM1 in the sera of PR patients exhibiting ON bipolar cell dysfunction.
Methodology/principal findings:
We performed Western blot analysis to identify an autoantibody against TRPM1 in the serum of a patient with lung CAR. The electroretinograms of this patient showed a severely reduced ON response with normal OFF response, indicating that the defect is in the signal transmission between photoreceptors and ON bipolar cells. We also investigated the sera of 26 patients with MAR for autoantibodies against TRPM1 because MAR patients are known to exhibit retinal ON bipolar cell dysfunction. Two of the patients were found to have autoantibodies against TRPM1 in their sera.
Conclusion/significance:
Our study reveals TRPM1 to be one of the autoantigens targeted by autoantibodies in at least some patients with CAR or MAR associated with retinal ON bipolar cell dysfunction.
Patient with CHARGE syndrome
Authors: Abdelhakim El Yajouri, Chafiq Mahraoui
Journal: Pan Afr Med J (2018)
MeSH terms: CHARGE Syndrome / diagnosis, Heart Defects, Congenital / etiology, Tetralogy of Fallot / etiology, Case Reports, CHARGE Syndrome / physiopathology, Child, Preschool, Ear / abnormalities, Genital Diseases, Male / etiology, Humans, Male, Penis / abnormalities, Penis agenesis

A two-years-old boy presenting multiple anomaly syndrome (congenital heart disease, Tetralogy of Fallot, bilateral ear anomalies, and micropenis) was consulted in the Pneumo-allergology unit of Rabat children hospital in Morocco. It was ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs.
An Indwelling Ureteral Stent Forgotten for Over 12 Years
Authors: Samir Bidnur, Melissa Huynh, Nathan Hoag, Ben Chew
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Ureteral stents are one of the most commonly used urologic devices with the purpose of establishing and maintaining ureteral patency. They are also associated with a number of complications including infection, migration, stent-related symptoms, and encrustation, leading to lithiasis. Prolonged stent dwell time is associated with a greater degree of these complications. We present the case of a 36-year-old man who presented with a severely encrusted ureteral stent that had been placed 12.5 years prior for an obstructive left-sided ureteral stone and was lost to follow-up. The patient underwent a combination of percutaneous nephrolithomy, cystolitholapaxy, and ureteroscopy to remove the stent and associated 1.7 cm renal pelvic stone and 4.1 cm bladder stone, necessitating two operative sittings to render him stone free.
Surgery for Bacterial Endocarditis Complicated by Diffuse Alveolar Hemorrhage
Authors: Kazuhiro Kurisu, Hiroshi Mitsuo, Yasutaka Ueno
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Diffuse alveolar hemorrhage is a very rare but potentially lethal condition resulting from various disorders. We report the case of a patient who suffered diffuse alveolar hemorrhage subsequent to bacterial endocarditis and survived aortic valve replacement, which was applied after improvement in respiratory distress. We believe that the strategy of respiratory functional recovery by aggressive rehabilitation is essential for the achievement of a successful surgical outcome in patients with alveolar hemorrhage.
The social network of medical case managers, housing providers, and health department staff in the Ryan White HIV/AIDS Program: A Midwest case study
Authors: Joseph S Lightner, Jamie R Shank, Ryan McBain, Tyler Prochnow
Journal: PLoS One (2020)
MeSH terms: Case Managers, HIV Infections / therapy, Health Personnel, Housing, Social Networking, Research Support, U.S. Gov't, P.H.S., Adult, Cities, Communication, Cross-Sectional Studies, Female, Humans, Kansas, Male

Background:
Broad networks of providers in the Ryan White system are essential to end the HIV epidemic. Yet, there is little evidence that has assessed social networks of providers within HIV care networks. The purpose of this study is to provide a cross-sectional analysis of the role medical case managers (MCM), housing providers (HP), and health department staff (HDS), play in a Ryan White-funded area.
Methods:
All MCMs, HPs, and HDS (N = 57) in a Midwest Transitional Grant Area were invited to participate in a social network survey. Social network composition scores, exponential random graph modeling and ANOVA tests were conducted using SPSS and R Studio.
Results:
Communication in this network was significantly more likely between SW of the same provider type (e.g. MCMs communicating with other MCMs, β = .87, p<.001). HDS reported larger overall social networks (F(2,54) = 4.59, p = <.01), larger networks with other provider types (F(2,54) = 9.23, p<.001), and higher quality of relationships with other provider types (F(2,54) = 3.90, p<.05) than MCM or HP. HDS were more likely to communicate across the system than MCMs or HPs (β = .75, p<.001).
Discussion:
HDS play an important role in communicating across provider types in care delivery for HIV. Our results indicate that health departments represent essential agencies for broad dissemination of resources and knowledge, and may bridge communication barriers for coordination of housing support and HIV care delivery.
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
Authors: Amel Al-Murrani, Fern Ashton, Salim Aftimos, Alice M George, Donald R Love
Journal: Case Rep Genet (2012)
MeSH terms: Case Reports

The contactin-associated protein-like 2 (CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment. Here we describe a 450 kb deletion within the CNTNAP2 gene that is maternally inherited in two male siblings, but with a variable clinical phenotype. This variability is described in the context of a limited number of other cases reported in the literature. The in-frame intragenic deletion removes a critical domain of the CNTNAP2 protein, and this case also highlights the challenges of correlating genotype and phenotype.
Analyzing Complexity and Fractality of Glucose Dynamics in a Pregnant Woman with Type 2 Diabetes under Treatment
Authors: Xiaoyan Chen, Dandan Wang, Jinxiang Lin, Teng Zhang, Shunyou Deng, Lianyi Huang, Yu Jin, Chang Chen, Zhaozhi Zhang, Jun Zheng, Baoqing Sun, Paul Bogdan, Xiaohua Douglas Zhang
Journal: Int J Biol Sci (2019)
Keywords: complexity analysis, continuous glucose monitoring, fractal analysis, multiscale sample entropy, type 2 diabetes with pregnancy
MeSH terms: Blood Glucose / analysis, Blood Glucose / metabolism, Diabetes Mellitus, Type 2 / blood, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Adult, Blood Glucose Self-Monitoring, Diabetes Mellitus, Type 2 / metabolism, Female, Humans, Models, Theoretical, Pregnancy, Blood Glucose

Currently, the rapid development of continuous glucose monitoring (CGM) device brings new insights into the treatment of diabetic patients including those during pregnancy. Complexity and fractality have recently under fast development for extracting information embodied in glucose dynamics measured using CGM. Although scientists have investigated the difference of complexity in glucose dynamics between diabetes and non-diabetes in order to discover better approaches for diabetes care, no one has analyzed the complexity and fractality of glucose dynamics during the process of adopting CGM to successfully treat pregnant women with type 2 diabetes. Thus, we analyzed the complexity and fractality using power spectral density (PSD), multi-scale sample entropy (MSE) and multifractal detrended fluctuation analysis (MF-DFA) in a clinical case. Our results show that (i) there exists multifractal behavior in blood glucose dynamics; (ii) the alpha stable distribution fits to the glucose increment data better than the Gaussian distribution; and (iii) the "global" complexity indicated by multiscale entropy, spectrum exponent and Hurst exponent increase and the "local" complexity indicated by multifractal spectrum decrease after the successful therapy. Our results offer findings that may bring value to health care providers for managing glucose levels of pregnant women with type 2 diabetes as well as provide scientists a reference on applying complexity and fractality in the clinical practice of treating diabetes.
Combination technique of radiofrequency ablation with sclerotherapy in acquired lymphangiectasis of the vulva
Authors: Niti Khunger
Journal: J Cutan Aesthet Surg (2009)
Keywords: radiofrequency ablation, sclerotherapy, vulvar lymphangiectasis
MeSH terms: Case Reports

Aquired lymphangiectasis of the vulva is an uncommon condition and only few cases have been reported following tuberculous lymphadenitis. A case is reported that was successfully treated with a unique combination therapy of radiofrequency ablation and sclerotherapy with polidocanol. There was no recurrence at two years of follow-up.
Silicone-Induced Granulomas of Breast Implant Capsule (SIGBIC)
Authors: Evelien Martens, Machteld Keupers
Journal: J Belg Soc Radiol (2023)
Keywords: breast implants, granuloma, silicones
MeSH terms: Case Reports

Teaching point: A hypoechogenic mass within the fibrous capsule of a breast implant could correspond with a silicone-induced granuloma.
Progressive posterior cortical dysfunction
Authors: Fábio Henrique de Gobbi Porto, Gislaine Cristina Lopes Machado, Lilian Schafirovits Morillo, Sonia Maria Dozzi Brucki
Journal: Dement Neuropsychol (2010)
Keywords: balint’s syndrome, posterior progressive cortical dysfunction syndrome, visual agnosia, visuospatial dysfunction
MeSH terms: Case Reports

Progressive posterior cortical dysfunction (PPCD) is an insidious syndrome characterized by prominent disorders of higher visual processing. It affects both dorsal (occipito-parietal) and ventral (occipito-temporal) pathways, disturbing visuospatial processing and visual recognition, respectively. We report a case of a 67-year-old woman presenting with progressive impairment of visual functions. Neurologic examination showed agraphia, alexia, hemispatial neglect (left side visual extinction), complete Balint's syndrome and visual agnosia. Magnetic resonance imaging showed circumscribed atrophy involving the bilateral parieto-occipital regions, slightly more predominant to the right. Our aim was to describe a case of this syndrome, to present a video showing the main abnormalities, and to discuss this unusual presentation of dementia. We believe this article can contribute by improving the recognition of PPCD.
Myoid hamartoma of the breast that proved difficult to diagnose: a case report
Authors: Naruhiko Mizuta, Koichi Sakaguchi, Mitsuhiko Mizuta, Aya Imai, Katsuhiko Nakatsukasa, Midori Morita, Mari Soshi, Mariko Goto, Satoru Yasukawa, Eiichi Konishi, Tetsuya Taguchi
Journal: World J Surg Oncol (2012)
MeSH terms: Breast Neoplasms / diagnosis, Fibroadenoma / diagnosis, Hamartoma / diagnosis, Case Reports, Adult, Diagnosis, Differential, Female, Humans, Magnetic Resonance Imaging, Mammography, Ultrasonography, Mammary

Myoid hamartomas of the breast are extremely rare breast lesions, with a poorly understood pathogenesis. We describe the case of a 38-year-old premenopausal woman who presenting with a mass in the left breast. Mammography revealed an oval mass that was partly indistinct, and ultrasonography showed a hypoechoic mass with a slightly irregular margin. Bilateral breast dynamic magnetic resonance imaging was performed for a more detailed evaluation. The images showed rapid initial enhancement and a microlobulated margin. Because the suspicion of malignancy was strong at that time, core needle biopsy was performed. Histologically, the tumor was identified as fibroadenoma. A case of myoid hamartoma of the breast that proved difficult to diagnose is reported, and discussed with reference to the literature.
Larotrectinib as an Effective Therapy in Congenital Infantile Fibrosarcoma: Report of Two Cases
Authors: Lucas Moratilla Lapeña, Maria Carmen Sarmiento Caldas, Carla Ramírez, María San Basilio, Paloma Triana Junco, Lara Rodríguez-Laguna, Victor Martínez-González, Elena Marín-Manzano, Antonio Perez-Martinez, Juan Carlos Lopez-Gutierrez
Journal: European J Pediatr Surg Rep (2022)
Keywords: children tumor, congenital infantile fibrosarcoma, larotrectinib
MeSH terms: Case Reports

Congenital infantile fibrosarcoma (CIF) is a rare tumor in children that occurs in the first years of life. It usually arises in the extremities but some cases affect the trunk, neck, abdomen, or retroperitoneum. Surgical resection has been traditionally the treatment of choice but the development of genomic analysis and targeted therapies has shed light on new therapeutic options. We present two patients with a congenital mass, one in the abdominal cavity (1-month-old) and the second in the left lower extremity respectively (2-months-old). In both cases, the clinical and radiological findings showed heterogeneous masses with rapidly progressive growth. MRI in the first patient exhibited an abdominal mass surrounding the aorta and inferior vena cava associated with a giant infrarenal aortic aneurysm. CT-guided biopsy was performed with pathological findings of fibrosarcoma and ETV6-NTRK3 gene fusion. The second patient underwent open biopsy also with histopathological diagnosis of fibrosarcoma and the same mutation in the TRK gene ( NTRK3 ). Targeted therapy with a specific TRK inhibitor, larotrectinib, was started in both patients. Periodical controls were made by ultrasound or MRI, and after a few weeks of treatment, both children showed significant decrease in the mass. By the second and third months after starting the treatment, both tumors disappeared. The first patient is now 15-months-old and the second one is 8-months-old. Larotrectinib is a novel targeted therapy with excellent results in CIF but long-term outcomes are limited to establish it as a gold standard treatment.
Acute zonal occult outer retinopathy: optical coherence tomography angiography findings and treatment response
Authors: Erhan Özyol, Pelin Özyol
Journal: GMS Ophthalmol Cases (2022)
Keywords: acute zonal occult outer retinopathy, optical coherence tomography, optical coherence tomography angiography
MeSH terms: Case Reports

Acute zonal occult outer retinopathy (AZOOR) is a rare condition primarily affecting the outer retina based on electrophysiologic studies. In addition to characteristic fundus appearance, spectral domain optical coherence tomography and fundus autofluorescence are unique in diagnosing AZOOR. There are a few reports on optical coherence tomography anjiography (OCTA) in AZOOR disease. In this report, we present a case using multimodal imaging including OCTA and treatment response to combined systemic antiviral, antiinflammatory, and immunosuppressive drugs. En-face OCTA outer retinal slab may provide useful tips for diagnosis and treatment response.
Anterior hyaloid membrane dissection using the conventional surgical microscope: a novel surgical approach in 2 patients
Authors: Radwan S Ajlan, Joey Luvisi
Journal: Int J Retina Vitreous (2019)
Keywords: anterior hyaloid membrane, anterior proliferative vitreoretinopathy, pneumatic anterior hyaloid dissection
MeSH terms: Case Reports

Background:
To describe the dissection and removal of the anterior hyaloid membrane using the conventional surgical microscope.
Case presentation:
This microscopic surgical approach involves dissecting the anterior hyaloid at the natural anatomical plane. A 30-gauge needle mounted on a 3.0 cc syringe is used to inject filtered air anterior to the anterior hyaloid membrane. Two patients needed this procedure; the first patient was pseudophakic with proliferative diabetic retinopathy, tractional retinal detachment, and vitreous hemorrhage. The second patient was phakic with proliferative diabetic retinopathy, anterior proliferative vitreoretinopathy, and recurrent vitreous hemorrhage. Both patients tolerated the procedure well with no complications.
Conclusion:
Pneumatic dissection of the anterior hyaloid membrane is previously thought to be only possible with the aid of ophthalmic endoscopy. This novel surgical approach provides surgeons with the option to perform pneumatic dissection of the anterior hyaloid when ophthalmic endoscopy is not available. Prospective studies are needed to reveal possible additional benefits or risks associated with this approach.
Resurfacing shoulder hemi arthroplasty in ballistic injuries. A case report
Authors: K Amri, M A Chefi, T Znagui, A Rafrafi, S Saadi, L Nouisri
Journal: Int J Surg Case Rep (2019)
Keywords: arthroplasty, ballistics, case report, shoulder

Introduction:
Ballistic traumatology of the shoulder joint is uncommon. Usually, it is associated to comminuted fractures of the upper humerus. Total shoulder arthroplasty has been proposed to restore a good function. The indication of resurfacing hemi arthroplasty still controversial and is not commonly reported after ballistic traumatology.
Presentation of case:
We report the case of a 26-year-old soldier victim of a gunshot of the left shoulder entailing a comminuted complex fracture of the upper extremity of the humerus. After shoulder immobilization of 3 months joint mobility was very limited. Radiographs showed bone malunion with a total loss of the hemispherical form of the humeral head. Patient has undergone a resurfacing hemi arthroplasty. Surgery outcome was good. At five years of follow-up, there were no major functional complaints. Clinical and radiological result was satisfactory with a good shoulder mobility.
Discussion:
Shoulder arthroplasty provided good functional outcome in case of post fracture sequelae. Difficulty was to choose between total arthroplasty and hemi arthroplasty. In young and active patients, authors disapproved total arthroplasty in post traumatic gleno-humeral arthrosis to prevent revision difficulties especially after glenoid erosion.
Conclusion:
Although follow-up still be limited, the indication of shoulder hemi arthroplasty was appropriate regarding functional outcome and patient satisfaction. Further clinical and radiological supervision still necessary to detect glenoid erosion.
Genomics of Tumor Origin and Characteristics for Adenocarcinoma and Malignant Pleural Mesothelioma: A Case Report
Authors: Katsuo Usuda, Yo Niida, Masahito Ishikawa, Shun Iwai, Aika Yamagata, Yoshihito Iijima, Nozomu Motono, Sohsuke Yamada, Hidetaka Uramoto
Journal: Front Oncol (2022)
Keywords: adenocarcinoma, genomics, lung cancer, malignant pleural mesothelioma, oncogene
MeSH terms: Case Reports

A female underwent a right middle lobectomy for a pulmonary adenocarcinoma (AD). She eventually died of a right malignant pleural mesothelioma (MPM; sarcomatoid type) 4 years and 7 months after the removal of the AD even though she did not have any history of asbestos exposure, smoking, or radiation exposure. Her chest CT revealed multiple pulmonary nodules and bilateral pleural effusion with a right pleural tumor directly invading into the abdominal cavity. The genomics of tumor origin and characteristics were examined for the AD and the MPM. As a result, 50 somatic variants were detected in the AD, and 29 somatic variants were detected in the MPM. The variants which were common in both the AD and the MPM were not present, which suggested that the AD and the MPM had occurred independently in different origins. The MPM had two driver oncogenes of TP53 and EP300, but the AD did not. Two driver oncogenes of TP53 and EP300 were hypothesized to make the MPM aggressive. The speed at which the MPM progressed without the patient having a history of asbestos exposure, smoking, or radiation exposure was alarming.
Quetiapine and Wolff-Parkinson-White Syndrome
Authors: Michael Chen, Hassaan Gomaa, Alonso Cortez-Resendiz, Christopher Martin, Andrew Francis, Alfredo Bellon
Journal: Case Rep Psychiatry (2020)
MeSH terms: Case Reports

Quetiapine is occasionally associated with cardiovascular adverse effects such as QTc prolongation. QTc prolongation is a side effect that requires monitoring in order to avoid more serious cardiac complications. One particular understudied area is the potential for antipsychotics to elicit electroconduction abnormalities in patients with Wolff-Parkinson-White (WPW) Syndrome. In the present report, we describe a case of quetiapine overdose in a patient with WPW.