OpenMed/multicare-articles huggingface dataset:
A Case of SAPHO Syndrome Complicated by Uveitis with Good Response to Both TNF Inhibitor and JAKinib
Authors: Ritasman Baisya, Meghna Gavali, Mudit Tyagi, Phani Kumar Devarasetti
Journal: Case Rep Rheumatol (2023)
MeSH terms: Case Reports

Introduction:
SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare autoinflammatory condition describing the constellation of inflammatory skin, bone, and joint manifestations which result in diagnostic difficulty and therapeutic challenge.
Case:
Here, we present a case of a young male diagnosed with SAPHO syndrome with osteoarticular and cutaneous involvement from an early age in his life. He suffered diagnostic challenges for a long time and was hence inadequately treated. He had minimal response to conventional DMARDs but showed excellent response to TNF inhibitor (adalimumab). Later, he defaulted treatment and presented with acute anterior uveitis which was also dramatically improved with adalimumab and tofacitinib although financial constraint was always an issue for the patient.
Conclusion:
The uniqueness of this case was that the patient had a multiorgan involvement including osteoarticular system, skin, and eye. Both TNFi (adalimumab) and JAKinib (tofacitinib) had a good response to all organs with a net improvement in the quality of life of this patient.
Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
Authors: Ying Su, Chun-Qiong Ran, Zhe-Long Liu, Yan Yang, Gang Yuan, Shu-Hong Hu, Xue-Feng Yu, Wen-Tao He
Journal: Front Genet (2023)
Keywords: col11a2, case report, genetic counseling, splicing mutation, type 3 stickler syndrome
MeSH terms: Case Reports

Background: Stickler syndrome (SS) is a group of hereditary collagenopathies caused by a variety of collagen and non-collagen genes. Affected patients have characteristic manifestations involving ophthalmic, articular, craniofacial and auditory disorders. SS is classified into several subtypes according to clinical and molecular features. Type 3 SS is an ultra-rare disease, known as non-ocular SS or otospondylomegaepiphyseal dysplasia (OSMED) with only a few pathogenic COL11A2 variants reported to date. Case presentation: A 29-year-old Chinese male was referred to our hospital for hearing loss and multiple joint pain. He presented a phenotype highly suggestive of OSMED, including progressive sensorineural deafness, spondyloepiphyseal dysplasia with large epiphyses, platyspondyly, degenerative osteoarthritis, and sunken nasal bridge. We detected compound heterozygous mutations in COL11A2, both of which were predicted to be splicing mutations. One is synonymous mutation c.3774C>T (p.Gly1258Gly) supposed to be a splice site mutation, the other is a novel intron mutation c.4750 + 5 G>A, which is a highly conservative site across several species. We also present a review of the current known pathogenic mutation spectrum of COL11A2 in patients with type 3 SS. Conclusion: Both synonymous extonic and intronic variants are easily overlooked by whole-exome sequencing. For patients with clinical manifestations suspected of SS syndrome, next-generation whole-genome sequencing is necessary for precision diagnosis and genetic counseling.
Varicella Retinal Vasculopathy: Unilateral Cilioretinal Artery Occlusion Despite Acyclovir Therapy Caught Using Optical Coherence Tomography-Angiography (OCTA)
Authors: Anadi Khatri, Satish Timalsena, Sudhir Gautam, Muna Kharel
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

Varicella zoster is known to be associated with vaso-occlusive pathologies, vasculitis, or optic neuritis, leading to profound visual loss. We report a case where a 13-year-old boy who initially presented to us with on and off diminution of vision in his right eye since 3 days and had normal ocular and OCT angiography findings followed up in 5 days with sudden painless diminution of vision in the same eye since one day this time revealing a pale macular region with rest of the retina being normal. Repeated OCT angiography showed loss of the capillary network around the perifoveal region suggesting cilioretinal artery occlusion.
Central nervous system infection caused by Mycobacterium houstonense: A case report
Authors: LiXia Wang, FaPing Wang, Chuan Yang, FengMing Luo
Journal: Front Neurol (2022)
Keywords: mycobacteria houstonense, mycobacterium fortuitum group, central nervous system infection, next generation sequencing, rapidly growing mycobacteria
MeSH terms: Case Reports

Background:

Mycobacterium houstonense is a rapidly growing mycobacterium (RGM) that belongs to the unnamed third biovariant complex of the Mycobacterium fortuitum group, which is rarely responsible for human infection. Approximately 76% of infections caused by the M. fortuitum group occur after open fractures or skin, soft tissue, bone, or puncture wounds. To date, only a few cases of human infectious disease caused by M. houstonense have been reported worldwide.
Case presentation:
We present a case of a 26-year-old man with a central nervous system (CNS) infection caused by M. houstonense. The patient was transferred to our hospital because of headaches and muscle strength changes. One month prior to presentation at our hospital, the patient was diagnosed with tuberculous meningitis at the other two hospitals, but his condition did not improve after anti-tuberculous treatment, antibiotics, and anti-viral treatment before admission to our hospital. Lumbar puncture was performed at both previous hospitals, as well as at our hospital; the results consistently indicated high cerebrospinal fluid (CSF) opening pressure. M. houstonense was detected in the CSF of the second hospital's lumbar puncture by metagenomic next-generation sequencing (mNGS) but was not identified at our hospital. The patient was discharged from our hospital after receiving non-tuberculous mycobacterium (NTM) treatment for 1 month according to the Chinese NTM guidelines. However, the patient died 20 days after discharge.
Conclusion:
Since it is difficult to identify M. houstonense, this is the first case of human CNS infection caused by M. houstonense in China. This case may be considered by neurologists and infectious physicians when CNS infection does not respond to conventional treatment, especially in the uncommon type of NTM.
Spontaneous infarction within a meningioma with negative DWI: an imaging pattern in patients with acute neurological deterioration
Authors: J Hall, Y Y Wang, P Smith, T Sutherland
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

Despite being slow growing and presenting with insidious symptoms, patients with a meningioma can have rapid neurological deterioration as a result of increased intracranial pressure (ICP). The cause of raised ICP is often the development of peritumoral oedema, although the mechanism remains poorly understood. Infarction of meningiomas has been reported. The authors report a series of two cases in which spontaneous meningioma infarction and the development of peritumoral oedema resulted in increased ICP, neurological deterioration and presentation.
Urokinase-based lock solutions for catheter salvage: A case of an upcoming kidney transplant recipient
Authors: Cong Xia, Junfen Fan, Chao Xu, Shouci Hu, Hongzhen Ma, Lingzhi He, Liqing Ye
Journal: Open Med (Wars) (2023)
Keywords: antibiotic lock, case report, catheter-related bloodstream infection, compatibility, urokinase
MeSH terms: Case Reports

Catheter-related bloodstream infection (CRBSI) is a significant complication among patients on haemodialysis (HD) who are dependent on a central venous catheter (CVC) for an extended period. Catheter removal as first-line treatment can induce accelerated venous access site depletion in patients on HD who rely on it to survive. It is possible to retain the catheter in stable patients without septic syndrome while administering systemic antibiotics and antibiotic lock therapy. Herein, we report the case of a patient on HD with CRBSI who was successfully treated with intravenous levofloxacin- and urokinase-based antibiotic lock, without catheter removal prior to kidney transplantation. The use of urokinase in combination with antibiotics in lock solutions for treating catheter infections is rare. We verified the physical compatibility of levofloxacin and urokinase by visual inspection, turbidimetric measurements, and particle count. To our knowledge, this was a rare case demonstrating the effective use of urokinase and levofloxacin in a catheter lock for CRBSI in a patient on HD. Considering the need for highly concentrated antimicrobials and the availability of various antibiotics, the compatibility and stability of the lock solution is a matter of concern. Further studies are warranted to assess the stability and compatibility of various antibiotics in combination with urokinase.
Thoracic Saccular Aortic Aneurysm Presenting with Recurrent Laryngeal Nerve Palsy prior to Aneurysm Rupture: A Prodrome of Thoracic Aneurysm Rupture?
Authors: Masafumi Ohki
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

Left recurrent laryngeal nerve palsy rarely results from cardiac disease. We present 2 cases of left recurrent laryngeal nerve palsy caused by thoracic saccular aortic aneurysms. One patient suffered an aortic aneurysm rupture one month after the advent of hoarseness, necessitating emergency surgery with aortic arch replacement. The other patient underwent elective aortic arch replacement surgery. Both saccular aortic aneurysms protruded downward in the aortopulmonary window to compress the recurrent laryngeal nerves. This is only the 5th case report of the rare occurrence of acute recurrent laryngeal nerve palsy subsequent to saccular aneurysm rupture in the English literature. Recurrent laryngeal nerve palsy does not always indicate imminent aneurysm rupture, but should trigger awareness of a potential rupture in the near future. Left recurrent laryngeal nerve palsy might be a prodrome of aneurysm rupture.
Influenza-associated hemolytic uremic syndrome: The pathogenic role of the virus
Authors: Valeria Silecchia, Gianluca D'Onofrio, Enrico Valerio, Giulia Rubin, Enrico Vidal, Luisa Murer
Journal: Clin Nephrol Case Stud (2021)
Keywords: h1n1, complement, hemolytic uremic syndrome, pathogenesis
MeSH terms: Case Reports

A 3-year-old girl came to our attention for fever and upper respiratory tract infection associated with thrombocytopenia, non-immune hemolytic anemia, and acute kidney injury (AKI). Complete blood count and renal function slowly normalized, with no need for dialysis. She was always normotensive with valid diuresis; her neurological status also rapidly improved. Nasal swab turned out positive for influenza A H1N1; stool test was negative for Shiga toxin-producing Escherichia coli (STEC). The patient was treated with oseltamivir for 5 days with a favorable outcome. Association between hemolytic uremic syndrome (HUS) and H1N1 influenza is poorly reported in literature [1, 2, 3, 4]. The pathogenic role of the virus in causing HUS is still controversial and debated [1, 2, 3, 4]. In our patient, complement activity markers (serum C3 and C5b-9) alteration suggested a transient, virus-mediated complement activation.
A Case of 14-Year-Old Male with Fibroma of Tendon Sheath of the Hand with Novel Chromosomal Translocation 4;10
Authors: Aaron Rubinstein, Valerie Fitzhugh, Irfan Ahmed, Michael Vosbikian
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Fibroma of tendon sheath (FTS) is an uncommonly encountered soft tissue mass, which is morphologically distinct from the more commonly seen giant cell tumor of tendon sheath (GCTTS). Initially described in 1936, FTS is typically a slow growing, painless, firm mass with a predilection for the upper extremity, frequently involving the hand. Cases of associated triggering or compression neuropathies have been described when underlying tendons or nerves are affected. Currently, the literature on FTS is sparse and largely limited to case reports. More recently, few reports of cytogenetic analysis on FTS have been reported in the literature. Cellular and chromosomal analysis of FTS tissue revealed chromosomal translocations with yet unknown clinical significance. Here, we present a case report of FTS in a 14-year-old male with a painless enlarging mass on the palmar side of the left hand treated by excision. Subsequent karyotypic analysis revealed a chromosomal translocation t(4;10) (p16;q24), add (10)(q22)[24]. To our knowledge, this is the first description of this chromosomal aberration in the literature.
Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male
Authors: Ioannis Papoulidis, Vassilis Paspaliaris, Elisavet Siomou, Sandro Orru, Roberta Murru, Stavros Sifakis, Petros Nikolaidis, Antonios Garas, Sotirios Sotiriou, Loretta Thomaidis, Emmanouil Manolakos
Journal: Mol Cytogenet (2015)
MeSH terms: Case Reports

Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-recurrent chromosomal rearrangements due to high variability of the size and the breakpoints of the deleted region. The exact region of the deletion was difficult to be determined before the use of molecular cytogenetic techniques such as array comparative genomic hybridization (aCGH). Here, a 13-year old boy with severe learning difficulties, mental retardation and mild heart defects is described. Conventional G-band karyotyping was performed and it is found that the patient is a carrier of a de novo interstitial deletion on the long arm of chromosome 11, involving 11q14 and 11q22 breakpoints. Further investigation, using aCGH, specified the deleted region to 11q14.2-11q22.1. There was a difficulty in correlating the genotype with the phenotype of the patient due to lack of similar cases in literature. More studies should be done in order to understand the genetic background that underlies the phenotypic differences observed in similar cases.
Primary Small Cell Carcinoma of the Hypopharynx: A Report of Two Cases and Review of Nine Additional Cases
Authors: Mitsuhiko Nakahira, Kiyomi Kuba, Satoko Matsumura, Masashi Sugasawa
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Objective:
Two patients with primary small cell carcinoma (SmCC) of the hypopharynx, an extremely rare site for the occurrence of SmCC, are reported and nine additional well-documented cases are reviewed.
Methods:
Case report and review of the literature concerning primary SmCC of the hypopharynx.
Results:
On the final analysis, we reviewed eleven cases of primary SmCC of the hypopharynx. The tumors contained mixed elements of SmCC and squamous cell carcinoma (SCC) in six (55%) of eleven patients. Out of eleven patients, two patients had distant metastasis at the initial presentation. Even though nine patients presented with locoregional disease, development of distant metastasis after treatment was seen in five patients (56%), whereas there was no report of treatment failure on the primary site. To achieve more than two-year survival, patients should have received more than 4 cycles of chemotherapy.
Conclusion:
We report two cases of primary SmCC of the hypopharynx with a review of the literature. In more than half of the cases, combined carcinomas with SCC are seen. Because this tumor has a strong propensity for distant metastasis even in patients with clinically localized tumor, new powerful systemic agents should be explored.
Somatic Mutations Profile of a Young Patient With Metastatic Urothelial Carcinoma Reveals Mutations in Genes Involved in Ion Channels
Authors: Jyoti Sharma, Barnali Deb, Irene A George, Shruthi Kapil, Karunakaran Coral, Nandita Kakkar, Smita Pattanaik, Arup Kumar Mandal, Ravimohan S Mavuduru, Prashant Kumar
Journal: Front Oncol (2019)
Keywords: ngs, altered pathways, bladder carcinoma, drugs, therapy
MeSH terms: Case Reports

Background: Urothelial carcinoma is the most common malignancy of the bladder and is primarily considered as a disease of the elderly. Studies that address bladder tumor occurrence in young age groups are rare. Case Presentation: A 19-year-old male presented with a gross total painless hematuria. A histology after biopsy revealed a high-grade transitional cell carcinoma with lymph node metastasis. The patient succumbed to the disease on day 72 of the treatment. Here, we used whole-exome sequencing of a paired tumor-normal sample to identify the somatic mutations and the possible targets of treatment. Result: We predicted eight potential driver mutations (TP53 p.V157L, RB1 c.1498+1G>T, MED23 p.L1127P, CTNND1 p.S713C, NSD1 p.P2212A, MED17 p.G556V, DPYD p.Q814K, and SPEN p.S1078*). In addition, we predicted deleterious mutations in genes involved in the ion channels (CACNA1S p.E1581K, CACNG1 p.P71T, CACNG8 p.G404W, GRIN2B p.A1096T, KCNC1 p.G16V, KCNH4 p.E874K, KCNK9 p.R131S, P2RX7 p.A296D, and SCN8A p.R558H). Conclusions: Most likely, mutations in genes involved in ion channels may be responsible for the aggressive behavior of a tumor. Ion channels are the second largest class of drug targets, and may thus serve as a putative potential therapeutic target in advanced stage urothelial carcinoma.
Self-expandable metal stenting of refractory upper gut corrosive strictures: a new role for endoscopy?
Authors: Raffaele Manta, Rita Conigliaro, Helga Bertani, Mauro Manno, Ahmed Soliman, Paolo Fedeli, Gabrio Bassotti
Journal: Case Rep Gastrointest Med (2011)
MeSH terms: Case Reports

Caustic strictures of the gastrointestinal tract are often difficult to treat, since relapses are frequent after medical or endoscopic treatment. Thus, novel approaches are needed. We report here our experience with self-expandable metallic stents (SEMS) as a new endoscopic approach in three patients with corrosive strictures of the upper gastrointestinal tract.
Case Report: Penetrating Thoracic Trauma by A Gunshot Involving the Heart
Authors: Alok Atreya, Ritesh G Menezes, Ashal Timalsina, Geeta Bashyal, Lokaratna Gyawali, Sushila Gyawali
Journal: F1000Res (2021)
Keywords: forensic pathology, nepal, entry wound, exit wound, gunshot, hemothorax, smooth bore
MeSH terms: COVID-19, Thoracic Injuries / etiology, Wounds, Gunshot, Case Reports, Communicable Disease Control, Humans, SARS-CoV-2

Firearm-related mortality is not frequently encountered in a country like Nepal where there are stringent laws prohibiting the buying, selling, carrying or storing of firearms. To possess a firearm a person must have a valid license. Wounds produced by firearms have typical characteristics the knowledge of which helps to identify the type of firearm used, range of fire, the position of the victim, and whether the manner of death was homicidal, suicidal, or accidental. The present case is the first autopsy-based study from Nepal which discusses the wounds produced by firearms with an interpretation of such findings for medicolegal purposes. The present case highlights a social problem where the victim, a psychiatric patient, had no access to prescription medication due to coronavirus disease (COVID-19) related lockdown.
An adolescent presenting with malignant fibrous histiocytoma of the testis: a case report
Authors: Lian-Li Wang, Hui Xie, Hai-Long Fu, Sen Jiang, Xiu-Fang Wang, Mei-Zai Jia, Ze-Hong Liu, Ya-Ping Zhao
Journal: J Med Case Rep (2013)

Introduction:
Malignant fibrous histiocytoma is a very common subtype of soft-tissue sarcoma in middle and late adulthood. However, malignant fibrous histiocytoma of the testis is very rare in adolescents.
Case presentation:
We report here the case of a 14-year-old Han Chinese boy, who presented with left scrotal mass lasting for 20 days along with distending pain for 5 days. A physical examination revealed a chicken egg-sized, firm, well-defined mass and unclear epididymis. A B-scan ultrasonography of the left scrotum displayed a 9.0×5.2×4.5cm medium- or low-echoic lobulated mass, which suggested a left testicular neoplasm. A fine needle aspiration cytology examination revealed that the cells obtained from the patient's testicular neoplasm were composed of myxoid spindle, and ovoid cells with nuclear atypia and mitotic activity, and arranged in a whirlpool or storiform pattern. Under histological examination, the tumor cells were arranged in a storiform pattern, which displayed mucoid matrix degeneration, and grew invasively. Consequently, a histopathological diagnosis suggested myxofibrosarcoma (or myxoid malignant fibrous histiocytoma).
Conclusions:
An ultrasonic examination combined with fine needle aspiration cytology should be helpful for the initial differential diagnosis of testicular malignant fibrous histiocytoma. However, the final confirmation relies on histopathological examination. To the best of our knowledge, this is the first reported case of malignant fibrous histiocytoma of the testis in an adolescent.
Case report: Blepharospasm in peak-dose dyskinesia may benefit from amantadine in Parkinson's disease
Authors: Qian-Ya Fan, Xiao-Dong Zhang, Ze-Di Hu, Shi-Shi Huang, Shi-Guo Zhu, Cai-Ping Chen, Xiong Zhang, Jian-Yong Wang
Journal: Front Neurol (2022)
Keywords: parkinson's disease, amantadine, blepharospasm, dyskinesia, peak-dose dyskinesia
MeSH terms: Case Reports

Introduction:
Blepharospasm is uncommon in Parkinson's disease, especially in the peak-dose dyskinesia period.
Case presentation:
We herein present the case of a patient with PD who developed blepharospasm in the peak-dose dyskinesia period. The symptom was improved by taking amantadine.
Conclusion:
The current report expands the phenomenology of peak-dose dykinesia in PD to include dystonic blepharospasm. This complication of levodopa therapy may respond to amantadine despite the dystonic appearance of movements.
Clear Cell Renal Cell Carcinoma: Local Recurrence and Bilateral Adrenal Metastases - A Case Report
Authors: Eliza-Maria Popa, Rosana Manea, Roxana-Elena Birla-Coroiu
Journal: J Belg Soc Radiol (2022)
Keywords: adrenal metastases, clear cell renal cell carcinoma, computed tomography, local recurrence, renal tumor
MeSH terms: Case Reports

Introduction:
Clear cell renal cell carcinoma is the most frequent type of renal cell carcinoma, which is often diagnosed incidentally in an advanced stage.
Case history:
We present the case of a 49-year-old man who presented to the emergency department with no specific symptoms. After computed tomography (CT) evaluation, the suspicion was raised of a left renal tumour. The aim of this case study is to underline the importance of rapid diagnosis and further investigation of clear cell renal cell carcinoma and the severity of this type of cancer.
Conclusions:
Clear cell renal cell carcinoma has no specific symptoms. For the complete diagnosis and further monitoring, the use of CT is necessary.
Teaching point:
Clear cell renal cell carcinoma treated with partial nephrectomy can relapse near the surgical scar and progress with metachronous bilateral adrenal metastases, especially when close follow-up is not performed due to the pandemic situation.