OpenMed/multicare-articles huggingface dataset:
A Case of Epidermal Growth Factor Receptor-Mutated Non-Small-Cell Lung Cancer: Multi-Line Treatment and Resistance Mechanisms
Authors: Ana Raquel Teixeira, Rute Fernandes, Ana Rodrigues
Journal: Cureus (2023)
Keywords: egfr mutation, egfr tyrosine kinase inhibitor, lung adenocarcinoma, non-small cell lung cancer, resistance mechanisms
MeSH terms: Case Reports

In the non-small-cell lung cancer (NSCLC) subtype, adenocarcinoma is the most common histology. The choice of first-line treatment depends on the mutational status. We present a case of a 54-year-old non-smoker woman with lung adenocarcinoma and extensive metastatic disease at diagnosis. The genetic analysis demonstrated a sensitizing epidermal growth factor receptor (EGFR) exon 19 mutation and she began treatment with a first-generation EGFR tyrosine kinase inhibitor (TKI), erlotinib. Due to successively acquired resistances and disease progression, six treatment lines were pursued, including third-generation EGFR TKI and chemotherapy. The patient accomplished an overall survival of 47 months. This case emphasized the importance of monitoring tumor mutational alterations, allowing us to implement a multi-line treatment. Targeted therapy in advanced NSCLC largely improved the overall survival of these patients.
Supernumerary teeth in primary dentition and early intervention: a series of case reports
Authors: Rakesh N Bahadure, Nilima Thosar, Eesha S Jain, Vidhi Kharabe, Rahul Gaikwad
Journal: Case Rep Dent (2012)

Supernumerary teeth are considered as one of the most significant dental anomalies during the primary and early mixed dentition stages. They are of great concern to the dentists and parents because of the eruption, occlusal, and esthetic problems they can cause. Supernumerary teeth occur more frequently in the permanent dentition but rarely in primary dentition. Mesiodens is the most common type of supernumerary teeth but rarely seen in lower arch. Early recognition and diagnosis of supernumerary teeth is important to prevent further complications in permanent dentition. Four cases of supernumerary teeth with mesiodens in upper and lower arch in primary dentition and their management have been discussed.
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report
Authors: Xiaohong Chen, Lin Han, Hui Yao
Journal: Front Genet (2020)
Keywords: ethe1, chronic diarrhea, elevated ethylmalonic acid, ethylmalonic encephalopathy, genetic sequencing

Ethylmalonic encephalopathy (EE) is a very rare autosomal recessive metabolic disorder that primarily affects children. Less than one hundred EE patients have been diagnosed worldwide. The clinical manifestations include chronic diarrhea, petechiae, orthostatic acrocyanosis, psychomotor delay and regression, seizures, and hypotonia. The ETHE1 gene has been shown to be associated with EE, and genetic sequencing provides concrete evidence for diagnosis. To date, only 37 variants of ETHE1 have been reported as disease-causing in EE patients. We identified two novel ETHE1 variants, i.e., c.595+1G>T at the canonical splice site and the missense variant c.586G>C (p. D196H), in a 3-year-old Chinese boy with EE. The patient had mild symptoms with only chronic diarrhea. The typical symptoms, including spontaneous petechiae, acrocyanosis, and hypotonia, were all absent. Herein, we report on the clinical, biochemical, and genetic findings of our patient and review the phenotypes and genotypes of all patients with EE caused by ETHE1 variants with available information. This study supports the early assessment and diagnosis of EE.
Intrauterine Limb Ischemia in Patient Heterozygous for the 677C>T) RS1801133 (Polymorphism of Methylenetetrahydrofolate Reductase MTHR Gene
Authors: Ahmad Al Hammouri, Rami A Misk, Hamza Abumunshar, Fawzy M Abunejma, Tasnim S Idrees, Mahmoud Abu Arqoub, Deiaa Malhis, Abdullah Shroof, Tareq Z Alzughayyar
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

Background:
Intrauterine arterial thrombosis is extremely rare. Multiple inherited coagulopathies were found to be associated with thrombophilia and an increased risk of intrauterine arterial thrombosis. Methylenetetrahydrofolate reductase MTHFR (C667T) polymorphism was found to be associated with mild hyper-homocysteinemia, which, in turn, can promote thrombotic complications.
Materials and methods:
We reported a case of intrauterine upper limb ischemia in a neonate who was found to be heterozygous for the 677C > T polymorphism of the MTHFR gene despite the dispute regarding its clinical significance as a risk of arterial thrombosis. We also reviewed the literature and summarized the clinical features, treatment, and prognosis of similar cases. Case Presentation. We reported a full-term female, born by normal spontaneous vaginal delivery who was found to have a swollen, blue left upper limb in the delivery room. Left upper limb computed tomography angiography (CTA) revealed left subclavian artery thrombosis. Investigations for the risk revealed heterozygosity for the MTHFR (C667T) polymorphism. Left upper limb amputation was done after the failure of medical management.
Conclusion:
Despite the conflict about whether heterozygosity for MTHFR (C667T) polymorphism increases the risk of arterial thrombosis or not, there are few cases in the literature presented with intrauterine upper limb ischemia and were found to be heterozygous for the mutation. We recommend investigating neonates and their parents for complete thrombophilia mutations when they present with unusual vascular occlusion sites as newborns.
Papillary renal neoplasm with reverse polarity: A case report
Authors: Chengjuan Xing, Hui Tian, Yunkun Zhang, Li Zhang, Jixia Kong
Journal: Front Oncol (2023)
Keywords: gata3, kras, case report, indolent, papillary renal neoplasm with reverse polarity
MeSH terms: Case Reports

As a recently named rare renal tumor of epithelial origin, papillary renal neoplasm with reverse polarity (PRNRP) has unique histomorphological features and immunophenotypes, often associated with KRAS mutations and showing indolent biological behavior. In this study, we report a case of PRNRP. In this report, nearly all tumor cells were positive for GATA-3, KRT7, EMA, E-Cadherin, Ksp-Cadherin, 34βE12, and AMACR in varying intensities, focally positive for CD10 and Vimentin, while negative for CD117, TFE3, RCC, and CAIX. KRAS mutations (exon 2) were detected by amplification refractory mutation system polymerase chain reaction (ARMS-PCR), while no NRAS (exon 2-4) and BRAF V600 mutations (exon 15) were detected. A transperitoneal Robot-Assisted Laparoscopic Partial Nephrectomy was performed on the reported patient. No recurrence or metastasis was found during the 18 months of follow-up.
An Acquired Factor VIII Inhibitor in a Patient with HIV and HCV: A Case Presentation and Literature Review
Authors: S B Zeichner, A Harris, G Turner, M Francavilla, J Lutzky
Journal: Case Rep Hematol (2013)

Introduction. Despite its low incidence, acquired factor VIII inhibitor is the most common autoantibody affecting the clotting cascade. The exact mechanism of acquisition remains unclear, but postpartum patients, those with autoimmune conditions or malignancies, and those with exposure to particular drugs appear most susceptible. There have been several case reports describing acquired FVIII inhibitors in patients receiving interferon alpha for HCV treatment and in patients being treated for HIV. To our knowledge, this is the first case of a patient with HCV and HIV who was not actively receiving treatment for either condition. Case Presentation. A 57-year-old Caucasian male with a history of HIV and HCV was admitted to our hospital for a several day history of progressively worsening right thigh bruising and generalized weakness. CTA of the abdominal arteries revealed large bilateral retroperitoneal hematomas. Laboratory studies revealed the presence of a high titer FVIII inhibitor. Conclusion. Our case of a very rare condition highlights the importance of recognizing and understanding the diagnosis of acquired FVIII inhibitor. Laboratory research and clinical data on the role of newer agents are needed in order to better characterize disease pathogenesis, disease associations, genetic markers, and optimal disease management.
Femoral Stem Fracture and Successful Reimplantation Using Femoral Window Technique in Canine Cemented Total Hip Replacement: Case Report
Authors: Beata Degórska, Jacek Sterna, Magdalena Kalwas-Śliwińska
Journal: Front Vet Sci (2021)
Keywords: thr complication, dog, femoral component fracture, hip dysplasia, hip prosthesis
MeSH terms: Case Reports

A fractured stem is a very rare, late complication in total hip replacement procedure in dogs. Here, we present one case after cemented total hip replacement with successful reimplantation, including clinical signs and radiographic findings.
Vitamin C-induced oxalate nephropathy: a case report
Authors: Harmeet Gurm, Mohamed Ali Sheta, Noel Nivera, Allan Tunkel
Journal: J Community Hosp Intern Med Perspect (2012)
Keywords: acute kidney injury, oxalate nephropathy, vitamin c
MeSH terms: Case Reports

Therapeutic benefits of vitamin C is an area of active research and large doses have been suggested by many studies for treatment of various conditions. We are describing a case of oxalate nephropathy leading to end stage kidney disease, which occurred secondary to mega-dose of oral vitamin C. Increasing the awareness between medical personnel as well as patients will clearly decrease the incidence of this debilitating but, at the same time, highly preventable disease.
Hirayama Disease: A Case of an Albanian Woman Clinically Stabilized Without Surgery
Authors: Annibale Antonioni, Mattia Fonderico, Enrico Granieri
Journal: Front Neurol (2020)
Keywords: hirayama disease, cervical flexion, cervical myelopathy, distal juvenile atrophy, hyposthenia, upper distal weakness
MeSH terms: Case Reports

Hirayama Disease (HD) is a rare clinical condition that usually affects young people with preference for Asian males. It appears with unilateral distal amyotrophy or asymmetric bilateral amyotrophy of an upper limb which is to refer to an involvement of the spinal metamers C7-C8-T1. A clinical case of a female patient of Albanian nationality is described, with onset of the disease in adulthood and clinical and electrophysiological features suggestive of HD, without any characteristic imaging findings. Clinical investigations, EMG and radiological data facilitated the diagnosis and allowed the exclusion of degenerative forms of the motor neuron and radiculopathies. In this paper, we want to point out that the diagnosis of this pathology should be hypothesized even in the absence of characteristic epidemiological and imaging data.
Case Report: Long-Term Response to Radiotherapy Combined With Targeted Therapy in Histiocytic Sarcoma Harboring Mutations in MAPK and PI3K/AKT Pathways
Authors: Zijian Liu, Yin Xiao, Xinxiu Liu, Qiuhui Li, Tao Liu, Fang Zhu, Gang Wu, Liling Zhang
Journal: Front Oncol (2021)
Keywords: mapk pathway, pi3k/akt pathway, histiocytic sarcoma, imatinib, radiotherapy
MeSH terms: Case Reports

Background:
Histiocytic sarcoma (HS) is a rare hematopoietic malignancy with an aggressive clinical presentation associated with a poor overall survival. To date, surgical resection, radiation therapy, and chemotherapy were often utilized for HS, but curative effects are rather disappointing.
Case presentation:
A 19-year-old female was referred to our hospital with a pathologic diagnosis of HS in December 2017. The patient had a severe airway obstruction resulting from a large mass (6.0 cm × 4.4 cm) arising from the left parapharyngeal space. She did not respond to cyclophosphamide, doxorubicin, vincristine, prednisone, and etoposide (CHOEP) chemotherapy, then she was switched to radiotherapy and crizotinib according to next-generation sequencing (NGS) results (mutations in MET and MAP2K1). The patient got a partial response after radiotherapy and crizotinib, then she switched to imatinib combined with thalidomide treatment. The patient got a long-term complete response from the treatment and is alive 44 months after initial diagnosis without disease progression. Further KEGG pathway enrichment analysis of NGS results from patient's tissue revealed that phosphatidylinositol 3' kinase (PI3K)/AKT and mitogen-activated protein kinase (MAPK) pathways were activated in this HS patient. We further performed experiments in vitro in a canine histiocytic sarcoma cell line DH82, in order to explore the possible mechanism of imatinib plus thalidomide in HS. Results of cell counting kit-8 (CCK8) assays showed that the proliferation activity of DH82 was significantly inhibited by imatinib but not thalidomide. Combined thalidomide and imatinib treatment did not improve the inhibitory effects of imatinib to DH82. Results of Western blot confirmed the inhibitory effects of imatinib on DH82 by targeting activation of MAPK and PI3K/AKT pathways.
Conclusion:
Radiotherapy combined with targeted therapy guided by NGS may be promising, and further perspective clinical trial is warranted for the localized HS.
ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia
Authors: Pernille M Tørring, Anette D Kjeldsen, Lilian Bomme Ousager, Klaus Brusgaard
Journal: Mol Genet Genomic Med (2018)
Keywords: eng, hht, genetic testing, hereditary hemorrhagic telangiectasia, mosaic, mosaicism, mutational mosaicism
MeSH terms: Endoglin / genetics, Telangiectasia, Hereditary Hemorrhagic / genetics, Case Reports, Activin Receptors, Type II / genetics, Adult, Aged, Base Sequence, Endoglin / physiology, Exons, Female, Frameshift Mutation, Genetic Testing, Humans, Mosaicism, Mutation, Pedigree, Smad4 Protein / genetics, Telangiectasia, Hereditary Hemorrhagic / physiopathology, ENG protein, human, Endoglin, SMAD4 protein, human, Smad4 Protein, ACVRL1 protein, human, Activin Receptors, Type II

Background:
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Very few cases are de novo or mosaicism. We describe a case with mutational mosaicism that would not be observed in the clinical routine when using Sanger sequencing or a NGS read coverage below app. 100.
Methods:
DNA was extracted from peripheral blood leukocytes, and buccal swabs. The coding region, exon-intron boundaries, and the flanking sequences of the genes were sequenced by NGS.
Results:
The proband had clinical HHT fulfilling the Curaçao criteria and genetic testing identified a frameshift mutation in ENG. The mother of the proband, also with clinical HHT, was found negative when analyzing DNA from blood for the familial mutation using Sanger sequencing. Analyzing her DNA by NGS HHT panel sequencing when extracted from both peripheral blood leukocytes, and cheek swabs, identified the familial ENG mutation at low levels.
Conclusion:
We provide evidence of ENG mutational mosaicism in an individual presenting with clinical HHT. These findings illustrate the importance of considering mutational mosaicism.
Hemoptysis due to Pulmonary Arteriovenous Malformation after Coil Embolization during Long-Term Follow-Up
Authors: Masashi Shimohira, Kenji Iwata, Kengo Ohta, Yusuke Sawada, Takeshi Hashimoto, Katsuhiro Okuda, Ryoichi Nakanishi, Yuta Shibamoto
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

A 28-year-old man with a history of coil embolization of multiple pulmonary arteriovenous malformations presented with hemoptysis 11 years after initial embolization. A cavity lesion in the left upper lobe, which was accompanied by deformed coils and ground-glass opacity, was considered responsible for hemoptysis. Embolization of the bronchial artery was performed.
Floating knee injury associated with patellar tendon rupture: a case report and review of literature
Authors: Singaravadivelu Vaidyanathan, Jagannath Panchanathan Ganesan, Mugundhan Moongilpatti Sengodan
Journal: Case Rep Orthop (2012)
MeSH terms: Case Reports

Floating knee injuries are frequently associated with other concomitant injuries to the ipsilateral limb or other parts of body of which injury to the ipsilateral knee ligaments carries significance for various reasons. A middle-aged man sustained a floating knee injury following RTA. DCS fixation by bridge plating technique for the distal femur and lateral buttress plating by MIPO technique for proximal tibia were planned and executed under spinal anesthesia with image intensifier. In addition, there were patellar tendon rupture along with avulsion of VMO from the medial border of patella and torn MPFL, which we have missed initially. To the best of our knowledge no similar case has been reported in English literature so far. We have reviewed the literature and proposed a different interpretation of Blake and McBride classification.
Copy Number Change of the NDM-1 sequence in a multidrug-resistant Klebsiella pneumoniae clinical isolate
Authors: Tzu-Wen Huang, Te-Li Chen, Ying-Tsong Chen, Tsai-Ling Lauderdale, Tsai-Lien Liao, Yi-Tzu Lee, Chien-Pei Chen, Yen-Ming Liu, Ann-Chi Lin, Ya-Hui Chang, Keh-Ming Wu, Ralph Kirby, Jui-Fen Lai, Mei-Chen Tan, Leung-Kei Siu, Chung-Ming Chang, Chang-Phone Fung, Shih-Feng Tsai
Journal: PLoS One (2013)
MeSH terms: DNA Copy Number Variations, DNA, Bacterial / genetics, Drug Resistance, Multiple, Bacterial / genetics, Klebsiella pneumoniae / genetics, Plasmids / chemistry, beta-Lactamases / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Anti-Bacterial Agents / pharmacology, Carbapenems / pharmacology, Colony Count, Microbial, DNA, Bacterial / chemistry, Drug Resistance, Multiple, Bacterial / drug effects, Humans, Klebsiella Infections / drug therapy, Klebsiella Infections / microbiology, Klebsiella pneumoniae / drug effects, Klebsiella pneumoniae / enzymology, Male, Sequence Analysis, DNA, Tandem Repeat Sequences, beta-Lactamases / chemistry, beta-Lactamases / metabolism, Anti-Bacterial Agents, Carbapenems, DNA, Bacterial, beta-Lactamases, beta-lactamase NDM-1

The genetic features of the antimicrobial resistance of a multidrug resistant Klebsiella pneumoniae strain harboring bla NDM-1 were investigated to increase our understanding of the evolution of NDM-1. The strain, KPX, came from a Taiwanese patient with a hospitalization history in New Delhi. Complete DNA sequencing was performed; and the genes responsible for antimicrobial resistance were systematically examined and isolated by library screening. KPX harbored two resistance plasmids, pKPX-1 and pKPX-2, which are 250-kb and 141-kb in size, respectively, with bla NDM-1 present on pKPX-1. The plasmid pKPX-1 contained genes associated with the IncR and IncF groups, while pKPX-2 belonged to the IncF family. Each plasmid carried multiple antimicrobial resistance genetic determinants. The gene responsible for resistance to carbapenems was found on pKPX-1 and that for resistance to aztreonam was found on pKPX-2. To our surprise, we discovered that bla NDM-1 exists on pKPX-1 as multiple copies in the form of tandem repeats. Amplification of bla NDM-1 was found to occur by duplication of an 8.6-kb unit, with the copy number of the repeat varying from colony to colony. This repeat sequence is identical to that of the pNDM-MAR except for two base substitutions. The copy number of bla NDM-1 of colonies under different conditions was assessed by Southern blotting and quantitative PCR. The bla NDM-1 sequence was maintained in the presence of the antimicrobial selection; however, removal of antimicrobial selection led to the emergence of susceptible bacterial populations with a reduced copy number or even the complete loss of the bla NDM-1 sequence. The dynamic nature of the NDM-1 sequence provides a strong argument for judicious use of the broad-spectrum antimicrobials in order to reduce the development and spread of antimicrobial resistance among pathogens.
Toxic epidermal necrolysis in hepatitis A infection with acute-on-chronic liver failure: Case report and literature review
Authors: Xin Zang, Si Chen, Lin Zhang, Yongzhen Zhai
Journal: Front Med (Lausanne) (2022)
Keywords: acute-on-chronic liver failure, case report, hepatitis a virus, liver cirrhosis, toxic epidermal necrolysis
MeSH terms: Case Reports

Toxic epidermal necrolysis (TEN) and Stevens-Johnson syndrome (SJS) are acute inflammatory skin adverse reactions characterized by epidermal exfoliation and multi-site mucositis and are considered medical emergencies. The risk factors for SJS/TEN include immune disorders, malignancy, and genetic susceptibility. In most cases, medication is considered to be the leading cause of TEN. In addition, several studies suggest that infections, such as the herpes simplex virus, human immunodeficiency virus (HIV), Mycoplasma pneumoniae, streptococcus, and meningococcus infections, can trigger the occurrence of SJS/TEN. In this rare case, we share our experience managing TEN in a hepatitis A virus infection with an acute-on-chronic liver failure patient. A 38-year-old man was infected with hepatitis A virus on the basis of liver cirrhosis and progressed to acute-on-chronic liver failure. As the infection progressed, the target-like skin lesions accompanied by mucosal involvement worsened. The condition of the patient progressively worsened with a severe generalized rash, bullae, and epidermal detachment accompanied by severe erosive mucosal lesions. His skin detachment area gradually involved 30% of the body surface area (BSA), and the disease progressed to TEN. The intravenous infusion of corticosteroids alleviated the patient's hypersensitivity, and the patient obtained lasting remission without severe adverse reactions and complications.
Abdominopelvic Tuberculosis with a Frozen Section Analysis Consistent with Ovarian Cancer
Authors: Agrimaldo Martins-Filho, Paula Carolina Arvelos Crispim, Renata Margarida Etchebehere, Cristina da Cunha Hueb Barata de Oliveira, Eddie Fernando Candido Murta, Rosekeila Simões Nomelini
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Pelvic tuberculosis is a type of extrapulmonary tuberculosis. The disease is accompanied by clinical and laboratory findings which may be unspecific and present aspects of other diseases, including gynecological malignancies. In this report, the authors presented a case of pelvic tuberculosis associated with peritoneal tuberculosis in a young woman exhibiting imaging and tumor markers consistent with ovarian neoplasm. An intraoperative frozen section analysis detected atypical cells that were suggestive of ovarian borderline or malignant epithelial neoplasia. The pathological analysis showed granulomatous inflammation in the right ovary and fallopian tube with a pattern of mycobacteriosis that was consistent with the presence of mycobacteria morphologically compatible with Mycobacterium tuberculosis. The patient had a complete remission after the use of antituberculosis drugs.
Stafne's Defect with Buccal Cortical Expansion: A Case Report
Authors: Paulo Sérgio Flores Campos, José Aloysio Carvalho Oliveira, Janaina Araújo Dantas, Daniela Pita de Melo, Nilson Pena, Luís Antônio Nogueira Santos, Iêda Margarida Rocha Crusoé-Rebello
Journal: Int J Dent (2010)
MeSH terms: Case Reports

A rare case of Stafne's bone cavity, type III-G, is reported in a 49-year-old male patient who had been referred to a private clinic for a routine evaluation. The final diagnosis was based on computed tomography. Scintigraphy played a fundamental role in determining the most likely etiology.