OpenMed/multicare-articles huggingface dataset:
Infant Oral Mutilation
Authors: Emily A Pope, Michael W Roberts, E LaRee Johnson, Clark L Morris
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Ebinyo refers to the practice of removing primary canine tooth follicles in infants without anesthetic by African traditional healers or elders using unsterilized instruments. This report describes a case of ebinyo or infant oral mutilation (IOM) and associated sequelae in a child adopted from a remote African tribe. The intraoral examination revealed that the patient was missing his primary maxillary and mandibular canines. The maxillary anterior periapical radiograph displayed a dysmorphic ectopic unerupted maxillary right primary canine positioned mesial to the maxillary right primary first molar. Periapical films taken confirmed partial or complete absence of the patient's primary mandibular left (73) and mandibular right (83) canines, and a bitewing and periapical film confirmed the absence of the patient's primary maxillary left (63) canine. The permanent canines will be monitored for possible hypoplasia secondary to trauma to the tooth buds during extirpation of the primary canines. Research presented in this report reveals that there are serious health implications involved with the practice of ebinyo.
A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes
Authors: Nathan R Lindquist, Eric N Appelbaum, Anushree Acharya, Jeffrey T Vrabec, Suzanne M Leal, Isabelle Schrauwen
Journal: Case Rep Genet (2019)
MeSH terms: Case Reports

We performed exome sequencing to evaluate the underlying molecular cause of a patient with bilateral conductive hearing loss due to multiple ossicular abnormalities as well as symphalangism of the fifth digits. This leads to the identification of a novel heterozygous start codon variant in the NOG gene (c.2T>C:p.Met1?) that hinders normal translation of the noggin protein. Variants in NOG lead to a spectrum of otologic, digit, and joint abnormalities, a combination suggested to be referred to as NOG-related-symphalangism spectrum disorder (NOG-SSD). Conductive hearing loss from such variants may stem from stapes footplate ankylosis, fixation of the malleoincudal joint, or fixation of the incus short process. In this case, the constellation of both stapes and incus fixation, an exceptionally tall stapes suprastructure, thickened long process of the incus, and enlarged incus body was encountered, leading to distinct challenges during otologic surgery to improve hearing thresholds. This case highlights multiple abnormalities to the ossicular chain in a patient with a start codon variant in NOG. We provide detailed imaging data on these malformations as well as surgical considerations and outcomes.
Case report: Identification of a novel HNRNPC::RARG fusion in acute promyelocytic leukemia lacking RARA rearrangement
Authors: Wenjing Ding, Guangyang Weng, Zheng Wang, Yusha Guo, Man Wang, Hongjie Shen, Suning Chen, Xin Du, Lijun Wen
Journal: Front Oncol (2023)
Keywords: hnrnpc, rarg, venetoclax, acute promyelocytic leukemia, translocation
MeSH terms: Case Reports

Acute promyelocytic leukemia (APL) is a special subtype of acute myeloid leukemia (AML), 95% patients have PML-RARA fusion gene as a result of a reciprocal chromosomal translocation t(15;17)(q22; q21). The retinoic acid receptors (RARs) belong to nuclear hormone receptors which modulate the transcription of DNA elements. RARs have three isoforms: retinoic acid receptor alpha (RARA), retinoic acid receptor beta (RARB) and retinoic acid receptor gamma (RARG). In this study, we describe the experimental results of a case with HNRNPC::RARG gene transcript with morphologic and immunophenotypic features similar to APL, including bone marrow morphology and immunophenotype, which showed poor response to ATO and chemotherapy. Then the patient achieved remission under the combination of BCL-2 inhibitor (Venetoclax) and standard 7 + 3 chemotherapy in second induction chemotherapy. The treatment in this case demonstrated effective response to Venetoclax, which suggested its possible role for the patient with acute promyelocytic-like leukemias (APLL).
Epidermoid Cysts in a Wandering Spleen: An Unusual Enigma
Authors: Sarah E Algino, Siena Sorrentino, David T Luyimbazi, Douglas J Grider
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Epidermoid splenic cysts are rare lesions in the spleen. These cysts are characterized by a stratified squamous epithelial lining, internal septations, and calcification. Congenital in origin, epidermoid splenic cysts are postulated to arise from misfolding and mesothelial cell incorporation into the splenic parenchyma. This report presents a unique case of an 18-year-old woman with an epidermoid splenic cyst in a congenital wandering spleen. Computed tomography and transabdominal ultrasound imaging along with immunochemistry staining confirmed the diagnosis. To the authors' knowledge, this is the first reported case of an epidermoid cyst in a wandering spleen.
Neisseria meningitidis Infecting a Prosthetic Knee Joint: A New Case of an Unusual Disease
Authors: Berta Becerril Carral, Elvira Alarcón Manoja, Salvador López Cárdenas, Jesús Canueto Quintero
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Primary meningococcal meningitis is an infrequent but known disease. However, the infection of a prosthetic joint with Neisseria meningitidis is rare. We hereby describe the second case of an arthroplasty infected with Neisseria meningitidis that responded favourably to prosthesis retention with surgical debridement, in combination with antibiotics treatment.
A Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study
Authors: Tetiana Litvinchuk, Yunxia Tao, Ruchi Singh, Tetyana L Vasylyeva
Journal: Front Pediatr (2015)
Keywords: adpkd, pkd1gene, pkd2 gene, genetic variant, kidney disease, polycystin-2
MeSH terms: Case Reports

Background:
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation due to mutations in genes coding for polycystin-1 [PKD1 (85-90% of cases), on ch 16p13.3] and polycystin-2 [PKD2 (10-15% of cases), on ch 4q13-23] and PKD3 gene (gene unmapped). It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is usually inherited, but new mutations without a family history occur in approximately 10% of the cases.
Case presentation:
A 17-year-old boy was followed up for bilateral cystic kidney disease, hypertension, and obesity since he was 13 years old. The diagnosis was an accidental finding during abdominal CT at age 13 to rule out appendicitis. A renal ultrasonogram also demonstrated a multiple bilateral cysts. Because of parental history of bilateral renal cysts, PKD1 and PKD2, genetic testing was ordered. Results showed, PKD2 variant 1:3 bp deletion of TGT; nucleotide position: 1602-1604; codon position: 512-513; mRNA reading frame maintained. The same mutation was later identified in his father.
Conclusion:
A smaller number of patients have a defect in the PKD2 locus on chromosome 4 (resulting in PKD2 disease). There are no known published cases on this familiar genetic variant of ADPKD-2 cystic kidney disease. In this case, the disease is present unusually early in life.
Discontinuation of Hemodialysis in a Patient with Anti-GBM Disease by the Treatment with Corticosteroids and Plasmapheresis despite Several Predictors for Dialysis-Dependence
Authors: Yoshihide Fujigaki, Chikayuki Morimoto, Risa Iino, Kei Taniguchi, Yosuke Kawamorita, Shinichiro Asakawa, Daigo Toyoki, Shinako Miyano, Wataru Fujii, Tatsuru Ota, Shigeru Shibata, Shunya Uchida
Journal: Case Rep Nephrol (2017)
MeSH terms: Case Reports

A 26-year-old man highly suspected of having antiglomerular basement membrane (GBM) disease was treated with corticosteroid pulse therapy 9 days after initial infection-like symptoms with high procalcitonin value. The patient required hemodialysis the next day of the treatment due to oliguria. In addition to corticosteroid therapy, plasmapheresis was introduced and the patient could discontinue hemodialysis 43 days after the treatment. Kidney biopsy after initiation of hemodialysis confirmed anti-GBM disease with 86.3% crescent formation. Physician should keep in mind that active anti-GBM disease shows even high procalcitonin value in the absence of infection. To pursue recovery of renal function, the challenge of the immediate and persistent treatment with high-dose corticosteroids plus plasmapheresis for highly suspected anti-GBM disease is vitally important despite the presence of reported predictors for dialysis-dependence including oliguria and requiring hemodialysis at presentation.
Minimally invasive mesh salvaging technique on treatment of hernia mesh infection: A case series
Authors: Arnolds Jezupovs
Journal: Int J Surg Case Rep (2020)
Keywords: case series, hernia, irrigation, mesh infection, mesh salvage, povidone-iodine

Introduction:
The aim of the presentation is to demonstrate a new conservative approach for the salvage treatment of the infected hernia mesh.
Methods:
Three patients with polypropylene mesh infection following an open umbilical and incisional hernia repair performed by placing the mesh in the onlay position are presented. The infection manifested itself with a systemic inflammatory response and an infected fluid collection surrounding the mesh. All patients were treated conservatively by a minimally invasive technique according to the stepwise protocol.
Results:
An effective, rapid response to the conservative treatment was observed. A total of five to six procedures were necessary in a period of up to twenty days. Mesh salvage was achieved, and the long-term outcome demonstrates neither the recurrence of infection nor hernia. An enclosed space at the infection site is the main precondition for providing a sufficient concentration of the antiseptic for a long enough time to act effectively at the infection site. The fast killing effect on the mesh infection and a good long-term outcome in all presented patients prove that this technique is superior to the the current techniques in appropriately selected patients from the point of treatment duration.
Conclusion:
An effective mesh salvaging conservative treatment is possible when the infection manifests itself as an infected fluid collection surrounding the monofilament, large-pore polypropylene mesh and should be the first-line option. Open surgical approach should be reserved as a second-line option if the first fails.
Scalable and accurate deep learning with electronic health records
Authors: Alvin Rajkomar, Eyal Oren, Kai Chen, Andrew M Dai, Nissan Hajaj, Michaela Hardt, Peter J Liu, Xiaobing Liu, Jake Marcus, Mimi Sun, Patrik Sundberg, Hector Yee, Kun Zhang, Yi Zhang, Gerardo Flores, Gavin E Duggan, Jamie Irvine, Quoc Le, Kurt Litsch, Alexander Mossin, Justin Tansuwan, De Wang, James Wexler, Jimbo Wilson, Dana Ludwig, Samuel L Volchenboum, Katherine Chou, Michael Pearson, Srinivasan Madabushi, Nigam H Shah, Atul J Butte, Michael D Howell, Claire Cui, Greg S Corrado, Jeffrey Dean
Journal: NPJ Digit Med (2018)
Keywords: machine learning, medical research

Predictive modeling with electronic health record (EHR) data is anticipated to drive personalized medicine and improve healthcare quality. Constructing predictive statistical models typically requires extraction of curated predictor variables from normalized EHR data, a labor-intensive process that discards the vast majority of information in each patient's record. We propose a representation of patients' entire raw EHR records based on the Fast Healthcare Interoperability Resources (FHIR) format. We demonstrate that deep learning methods using this representation are capable of accurately predicting multiple medical events from multiple centers without site-specific data harmonization. We validated our approach using de-identified EHR data from two US academic medical centers with 216,221 adult patients hospitalized for at least 24 h. In the sequential format we propose, this volume of EHR data unrolled into a total of 46,864,534,945 data points, including clinical notes. Deep learning models achieved high accuracy for tasks such as predicting: in-hospital mortality (area under the receiver operator curve [AUROC] across sites 0.93-0.94), 30-day unplanned readmission (AUROC 0.75-0.76), prolonged length of stay (AUROC 0.85-0.86), and all of a patient's final discharge diagnoses (frequency-weighted AUROC 0.90). These models outperformed traditional, clinically-used predictive models in all cases. We believe that this approach can be used to create accurate and scalable predictions for a variety of clinical scenarios. In a case study of a particular prediction, we demonstrate that neural networks can be used to identify relevant information from the patient's chart.
Post-vaccination myositis and myocarditis in a previously healthy male
Authors: Matthew P Cheng, Michael G Kozoriz, Amir A Ahmadi, John Kelsall, Katryn Paquette, Jake M Onrot
Journal: Allergy Asthma Clin Immunol (2016)
Keywords: asia, autoimmune, myocarditis, rhabdomyolysis, vaccine
MeSH terms: Case Reports

Background:
The immunological literature has been redefining clinical phenomena as hypotheses emerge regarding causal links between triggers, immunologic manifestations, and their specific inflammatory cascades. Of late, autoimmune manifestations that appear to be caused by an external adjuvant have been grouped into a complex syndrome referred to as autoimmune/inflammatory syndrome induced by adjuvants (ASIA). This syndrome may present with diverse clinical problems, which may include neurocognitive impairment, inflammatory musculoskeletal changes, and constitutional symptoms. There is evidence in the literature linking vaccines to different auto-immune manifestations. Vaccines have not traditionally been reported to trigger ASIA, although reports are emerging linking the human papilloma virus and hepatitis B vaccines to it.
Case presentation:
We report the first suspected case of ASIA in a previously healthy patient who received the Fluad seasonal influenza vaccine, which contains the MF59 adjuvant. He presented to hospital with profound weakness and was diagnosed with severe rhabdomyolysis. He also had elevated troponin-I and extensive cardiac investigations enabled the diagnosis of myocarditis. His infectious and rheumatologic work-ups were negative. He responded well to conservative management and did not require immune suppressive therapy.
Conclusion:
Given the benefits of the influenza vaccine, and the low incidence of clinically significant complications, we encourage ongoing seasonal influenza immunization. However, ongoing surveillance is required to evaluate the occurrence of rare adverse events, including ASIA.
A 50-year-old man with deteriorating cognitive function and impaired movement
Authors: Andrew J Larner
Journal: PLoS Med (2009)
MeSH terms: Alzheimer Disease / diagnosis, Mutation, Supranuclear Palsy, Progressive / diagnosis, tau Proteins / genetics, Case Reports, Chromosomes, Human, Pair 17, Dementia / diagnosis, Diagnosis, Differential, Humans, Male, Middle Aged, Neurodegenerative Diseases / diagnosis, Parkinsonian Disorders / diagnosis, MAPT protein, human, tau Proteins

Andrew Larner discusses the diagnosis and management of a man referred to the Cognitive Function Clinic with a 12- to 18-month history of deteriorating memory.
Photon-deficient Mass on FDG-PET Scan in Renal Cell Carcinoma: A Case Report
Authors: George Shih, Wei-Jen Shih, Bonnie Mitchell, Primo P Milan
Journal: Clin Med Case Rep (2008)
Keywords: ct, f-18 fdg-pet, mr i, us, glycolysis, photon-deficiency, renal cell carcinoma, tumor necrosis
MeSH terms: Case Reports

F-18 Fluorodeoxyglucose Positron Emission Tomography imaging (F-18 FDG PET) detects malignancies depending on the uptake profile of glycolysis of tumors; however, the role of FDG PET is limited in the evaluation of primary renal malignancy because of low FDG uptake by renal cell carcinoma and also because normal urinary excretion of FDG seen in the images. A patient with renal cell carcinoma whose FDG PET imaging study incidentally shows a photon-deficient mass in the upper pole of the right kidney is present here. The diagnosis is also validated by the histopathological findings of tumor necrosis, hemorrhage, and scars.
Lithium-Induced Chronic Kidney Disease in a Pediatric Patient
Authors: Neena Gupta, Meghan Gibson, Ellen C Wallace
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Lithium-induced nephropathy usually manifests in adulthood as it develops slowly after many years of cumulative exposure. There is very limited information available in pediatric patients. Renal function monitoring and timely intervention is the key in preventing lithium-induced chronic kidney disease in these patients. We report a case of a 14-year-old boy who was on lithium for almost 9 years for his complex psychiatric illness. He presented with increased urinary frequency and nocturia. His serum creatinine increased to 1.15 mg/dL (estimated glomerular filtration rate or eGFR 53 ml/min/1.73 m2) from a baseline of 0.78 mg/dL (eGFR 86 ml/min/1.73 m2) a year prior to this presentation. Results of the imaging study were consistent with lithium-induced nephropathy. He was managed conservatively. His serum creatinine returned to baseline of 0.78 mg/dL after a year of discontinuation of lithium, consistent with mild chronic kidney disease. This case highlights the fact that lithium-induced chronic kidney disease can present in pediatric age group when lithium is initiated at a young age in children and that timely intervention may prevent further progression of renal damage. In addition to drug levels, routine monitoring of renal function during lithium therapy is essential.
Cavernous Breast Hemangioma Mimicking an Invasive Lesion on Contrast-Enhanced MRI
Authors: Menelaos Zafrakas, Panayiota Papasozomenou, Panayiotis Eskitzis, Demetrios Zouzoulas, Glyceria Boulogianni, Thomas Zaramboukas
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Hemangiomas are vascular lesions, which are only rarely located in the breast. Larger breast hemangiomas may be detected by clinical examination, mammography, and breast ultrasound, whereas smaller lesions are usually incidental findings. We present a rare case of a 43-year-old woman with a cavernous hemangioma of the breast, presenting only on MRI and evading mammographic and ultrasonographic imaging. On breast MRI, a small lesion with irregular margins was detected in the right breast, and following gadolinium contrast medium administration, a type 3 curve, with rapid initial rise, followed by reduction in enhancement (washout) in the delayed phase was noted, raising suspicion for malignancy. The lesion could not be visualized on second-look targeted breast ultrasound and full-field digital mammography. A wide local excision was performed after 3 T MRI-guided hook wire localization and diagnosis of cavernous hemangioma was established histologically. Cavernous hemangioma is a rare breast lesion, with only few cases reported in the literature, and this is the first case with a presentation mimicking an invasive tumor on contrast-enhanced MRI.
Renal metastases of a femur osteosarcoma: a case report and a review of the literature
Authors: Yousra Akasbi, Samia Arifi, Karim Lahlaidi, Tarik Namad, Nawfel Mellas, Mohammed Jamal El Fassi, My Hassan Farih, Afaf Amarti, Omar El Mesbahi
Journal: Case Rep Urol (2012)
MeSH terms: Case Reports

This paper discusses a rare case of renal metastatic osteosarcoma. A 25-year-old man with a history of metastatic osteosarcoma involving his right kidney was referred to our institution for treatment. He was managed with chemotherapy. An exhaustive review of the English literature pertaining to this disease was performed. To our knowledge, this case represents only the sixteenth. The literature suggests that the incidence of renal involvement in osteosarcoma is significant and that the treatment should be multidisciplinary in such patients.
Immunotherapy-Based Therapeutic Strategies for Recurrent Advanced Squamous Cell Carcinoma of the Head and Neck: A Case Report and Literature Review
Authors: Hao Nie, Ting Chen, Kefei He, Chanjin Liang, Wei Guo, Xingyuan Shi
Journal: Front Immunol (2021)
Keywords: case report, immunotherapy, locoregionally advanced squamous cell carcinoma of head and neck, radiotherapy, targeted therapy
MeSH terms: Squamous Cell Carcinoma of Head and Neck / diagnosis, Squamous Cell Carcinoma of Head and Neck / therapy, Case Reports, Review, Antineoplastic Agents / therapeutic use, Antineoplastic Agents, Immunological / therapeutic use, Clinical Decision-Making, Combined Modality Therapy, Disease Management, Humans, Immunotherapy, Magnetic Resonance Imaging, Male, Middle Aged, Protein Kinase Inhibitors / therapeutic use, Squamous Cell Carcinoma of Head and Neck / etiology, Tomography, X-Ray Computed, Antineoplastic Agents, Antineoplastic Agents, Immunological, Protein Kinase Inhibitors

We present a patient with locoregionally advanced laryngeal carcinoma, who experienced recurrence 2 months after surgery. We exploratively treated this patient with immunotherapy combined with targeted therapy with or without radiation therapy. The patient exhibited a significant and durable response. Thus far, there are no standard or effective second-line therapeutic modalities for recurrent locoregionally advanced laryngeal carcinoma. The efficacy of conventional chemotherapy with anti-epidermal growth factor receptor (anti-EGFR) remains unsatisfactory. The addition of immunotherapy resulted in substantial improvement in the progression-free survival (PFS) and overall survival (OS) of this patient. In this case, immunotherapy combined with anti-EFGR was administered, leading to good tumor response; based on this observation, radiotherapy was added to further intensify tumor control. This therapeutic strategy may be a novel option for recurrent locoregionally advanced squamous cell carcinoma of the head and neck.
Metagenomic next-generation sequencing in diagnosing Pneumocystis jirovecii pneumonia: A case report
Authors: Yuan Zhang, Zhaoshang Zeng, Fenghui Li, Zhiyun Peng, Han Xia, Yunyi Zeng, Haimin Chen, Yingjing Wang, Weining Xie, Yanhua Zhang, Zhongxiang Tang
Journal: Open Life Sci (2022)
Keywords: pneumocystis jirovecii pneumonia, case report, diagnosis, metagenomic next-generation sequencing, rheumatoid arthritis
MeSH terms: Case Reports

It remains a huge challenge for clinicians to diagnose Pneumocystis jirovecii pneumonia (PJP) by a conventional method, which leads to delay in diagnosing PJP, accounting for higher mortality in patients with rheumatoid arthritis (RA). A 69-year-old woman, who suffered from RA for years, developed acute respiratory failure. The computed tomography scan showed diffused effusion and ground glass opacity in both lungs, which could not be differentiated from interstitial pneumonia. Metagenomic next-generation sequencing (mNGS) revealed P. jirovecii in both serum and bronchoalveolar lavage fluid with reads per million (RPM) of 17 and 437, while other diagnostic tests did not detect any pathogenic microorganism. The results were verified by quantitative polymerase chain reaction (mtSSU region) against the same samples. The DNA RPM of P. jirovecii declined notably after treatment with trimethoprim/sulfamethoxazole. The patient was discharged without treatment and finally passed away. This case fully highlights the sensitivity of mNGS in early diagnosis of PJP, which is of great significance for prognosis and treatment. Nonetheless, the clinical application of mNGS is worth further standardization and normalization.