OpenMed/multicare-articles huggingface dataset:
Tuberculosis of the knee: A pitfalls in clinical settings (A case report and literature review)
Authors: Noni Novisari Soeroso, Fannie Rizki Ananda, Heru Rahmadhany, Dedy Dwi Putra
Journal: Int J Surg Case Rep (2020)
Keywords: knee, rare case, surgery, tuberculosis
MeSH terms: Case Reports

Introduction:
Tuberculosis of the knee is a rare form of diseases associated with tuberculosis that is frequently misdiagnosed as malignancy or bacterial infections. Its symptomatology might be identical to other conditions; thus finally turns the clinician misdiagnosed of the patient circumstances.
Presentation of the case:
A 31-year-old male patient presented a unilateral knee swelling, reddish, warmth, pain, with a limited range of movement and then diagnosed with tuberculosis of the knee, histopathologically confirmed following surgical removal, including synovectomy without arthroplasty procedure. Furthermore, the patients underwent the administration of an anti-tuberculous drug regiment for a 1-year period. There was clinical improvement attained afterward after the prompt management since the initiation of therapy progressively.
Discussion:
This case is unique due to the unspecific clinical manifestations of the disease, which contributed to delay diagnosis. Further, either the patients and his parents still had a lack of knowledge according to his condition. Opposite to the recent studies, there was an excellent outcome after simple surgical procedure, including synovectomy without arthroplasty followed by 1 year of anti-tuberculous drug.
Conclusion:
Knee tuberculosis is a rare disease that often misdiagnosed as bacterial infections or malignancy. Mimicking clinical manifestations needs further surgical approach followed by histopathology examination to diagnose this disease. Early recognition and prompt treatment were crucially required to avoid the permanent limitation of movement that could affect the patient's quality of life. In this case, a lack of knowledge of the patient and his family significantly contributes to the delayed diagnosis.
Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review
Authors: Shuna Chen, Mingqin Zhu, Yulei Hao, Jiachun Feng, Ying Zhang
Journal: Front Neurol (2019)
Keywords: adult-onset, inherited vasculopathy, late-diagnoed pku, leukodystrophy, mitochondrial disorders, neurogenetics, phenylketonuria
MeSH terms: Case Reports

Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. Delayed diagnoses of it manifest a progressive irreversible neurological impairment in the early years of the disease. Guthrie test and tandem mass spectrometry aided in early detection and intervention of phenylketonuria, which significantly decreased the disability of patients as well as reducing the need for diagnosis in adults. This is a case report of a 60-year-old Asian man, characterized by severe visual-spatial disorders and bilateral diffuse symmetric white matter lesions on magnetic resonance imaging, who was diagnosed as phenylketonuria with his congenital mental retardation sibling. Heterozygous mutations exist in gene encoding PAH c.1068C>A and c.740G>T. During the diagnosis, we looked up at other late-onset genetic diseases considered to occur rarely but gradually revealed similar clinical manifestations and significant white matter lesions gaining importance in guiding to correct diagnosis and treatment. We made a comprehensive review of phenylketonuria and other inherited diseases with major prevalence in adulthood with prominent white matter involvement. Our study aims to help neurologists to improve recognition of metabolism-related leukoencephalopathies without neglect of the role of congenital genetic factors.
Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1
Authors: Jaewon Kim, Dong-Woo Lee, Dae-Hyun Jang
Journal: Front Pediatr (2021)
Keywords: chiari i malformation, flna gene mutation, frontometaphyseal dysplasia 1, otopalatodigital spectrum disorder, pansynostosis, syringomyelia
MeSH terms: Case Reports

Frontometaphyseal dysplasia 1 (FMD1) is a rare otopalatodigital spectrum disorder (OPDSD) that is inherited as an X-linked trait and it is caused by gain-of-function mutations in the FLNA. It is characterized by generalized skeletal dysplasia, and craniofacial abnormalities including facial dysmorphism (supraorbital hyperostosis, hypertelorism, and down-slanting palpebral fissures). The involvement of the central nervous system in patients with OPDSD is rare. Herein, we present the case of a 12-year-old boy with facial dysmorphism, multiple joint contractures, sensorineural hearing loss, scoliosis, craniosynostosis, and irregular sclerosis with hyperostosis of the skull. Brain and whole-spine magnetic resonance imaging revealed Chiari I malformation with extensive hydrosyringomyelia from the C1 to T12 levels. Targeted next-generation sequencing identified a hemizygous pathologic variant (c.3557C>T/p.Ser1186Leu) in the FLNA, confirming the diagnosis of FMD1. This is the first report of a rare case of OPDSD with pansynostosis and Chiari I malformation accompanied by extensive syringomyelia.
A syndrome featuring developmental disorder of the nervous system induced by a novel mutation in the TCF20 gene, rarely concurrent immune disorders: a case report
Authors: Si Huang, Jiaxin Xu, Yiyang Li, Wenhui Mo, Xiuwen Lin, Yajun Wang, Fujian Liang, Yan Bai, Guochun Huang, Jing Chen, Jing Xin, Guoda Ma
Journal: Front Genet (2023)
Keywords: tcf20, central nervous system, frameshift mutation, immune system diseases, multisystem
MeSH terms: Case Reports

Background: The expression of TCF20 is the most widespread in brain tissue. TCF20 depletion or mutation can affect the proliferation and differentiation of embryonic neurons, leading to developmental disorder of the central nervous system and subsequent rare syndrome featuring. Case presentation: Here, we report a 3-year-old boy carrying a novel frameshift mutation in TCF20, c.1839_1872del (p.Met613IlefsTer159), resulting in multisystem disease. In addition to symptoms of neurodevelopmental disorder, a large head circumference, special appearance, overgrowth, abnormal testicular descent. Remarkably, previously infrequently reported symptoms of the immune system such as hyperimmunoglobulinemia E (hyper-IgE), immune thrombocytopenic purpura, cows milk protein allergy, and wheezy bronchitis, were observed. Conclusion: This study broadens the mutation spectrum of the TCF20 and the phenotypic spectrum of TCF20-associated disease.
Rheumatoid Arthritis and Autoimmune Hemolytic Anemia as First Manifestation of Rhupus
Authors: Alejandra Espinosa-Orantes, Martha Adriana Hernandez-Vera, Jose Daniel Juarez-Villa, Gutiérrez-Espinoza Anahí Guadalupe, Guillermo Flores
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

"Rhupus" syndrome is a rare condition that describes the coexistence of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA), which prevalence among patients with SLE varies from 0.01% to 9.7%. There are few reported cases of the association between autoimmune hemolytic anemia and rheumatoid arthritis with systemic lupus erythematosus (rhupus). We report a rare case of rhupus in a 29-year-old woman, associated with autoimmune hemolytic anemia.
A guide for using social media in environmental science and a case study by the Students of SETAC
Authors: Sarah R Bowman, Geert Biermans, Andrea Hicks, Dragan M Jevtić, Jose Luis Rodriguez-Gil, Erica K Brockmeier
Journal: Environ Sci Eur (2015)
Keywords: environmental science, facebook, linkedin, mendeley, researchgate, science communication, science outreach, social media, twitter

Background:
In the past few years, the use of social media has gradually become an important part of our daily lives. While some might see this as a threat to our productivity or as a source of procrastination, social media as a whole have unquestionably changed the way in which information and knowledge disseminate in our society.
Social media guide:
This article is meant to serve as a guide for scientists who would like to establish their online presence and includes an outline of the benefits of using social media as well as strategies for establishing and improving your presence in social media. Environmental scientists in particular can benefit enormously from this approach, since this field of science deals with topics that directly impact our daily lives.
Case study:
To highlight these approaches for our fellow scientists in the field of environmental science and toxicology and in order to better engage with our own peers, we describe the outreach methods used by the student advisory councils of the Society of Environmental Toxicology and Chemistry (SETAC) and how we have worked towards an improved social media presence. In this article we present our initiatives to increase social media usage and engagement within SETAC. This includes joint social media accounts organized by the SETAC student advisory councils from various SETAC geographical units. We also led a course on social media usage at the SETAC Nashville meeting in 2013 and are currently developing other outreach platforms, including high school student-oriented science education blogs.
Conclusion:
The Students of SETAC will continue to increase communication with and among SETAC students on a global level and promote the use of social media to communicate science to a wide variety of audiences.
Early-onset Alzheimer's disease with depression as the first symptom: a case report with literature review
Authors: Meichen Liu, Xueting Xie, Jinghui Xie, Shiyun Tian, Xuemei Du, Hongbo Feng, Huimin Zhang
Journal: Front Psychiatry (2023)
Keywords: alzheimer’s disease, case report, depression, magnetic resonance imaging, neuroimaging, positron emission tomography
MeSH terms: Case Reports

Background:
Alzheimer's disease is a common neurodegenerative disease, and patients with early-onset Alzheimer's disease (onset age < 65 years) often have atypical symptoms, which are easily misdiagnosed and missed. Multimodality neuroimaging has become an important diagnostic and follow-up method for AD with its non-invasive and quantitative advantages.
Case presentation:
We report a case of a 59-year-old female with a diagnosis of depression at the age of 50 after a 46-year-old onset and a 9-year follow-up observation, who developed cognitive dysfunction manifested by memory loss and disorientation at the age of 53, and eventually developed dementia. Combined with neuropsychological scales (MMSE and MOCA scores decreased year by year and finally reached the dementia criteria) and the application of multimodal imaging. MRI showed that the hippocampus atrophied year by year and the cerebral cortex was extensively atrophied. 18F-FDG PET image showed hypometabolism in right parietal lobes, bilateral frontal lobes, bilateral joint parieto-temporal areas, and bilateral posterior cingulate glucose metabolism. The 18F-AV45 PET image showed the diagnosis of early-onset Alzheimer's disease was confirmed by the presence of Aβ deposits in the cerebral cortex.
Conclusion:
Early-onset Alzheimer's disease, which starts with depression, often has atypical symptoms and is prone to misdiagnosis. The combination of neuropsychological scales and neuroimaging examinations are good screening tools that can better assist in the early diagnosis of Alzheimer's disease. Graphical Abstract.
Cholecystocolonic Fistulas from Diverticulosis: A Potentially Missable Cause of Liver Abscesses
Authors: Ben Warner, Terry Wong, Philip Berry
Journal: Case Rep Gastrointest Med (2016)

Cholecystocolonic fistulas (CCF) due to colonic diverticulosis are a rare cause of liver abscesses. It is even rarer to simultaneously have choledocholithiasis, another cause for liver abscesses. In this case report, we found both pathologies and emphasise the need to study cholangiograms carefully so as not to miss alternative diagnoses.
Transmigration of mandibular canine: report of four cases and review of literature
Authors: Gaurav Sharma, Archna Nagpal
Journal: Case Rep Dent (2011)
MeSH terms: Case Reports

Transmigration of canine is a rare phenomenon. The prevalence of transmigration of mandibular canine has been found to be only 0.14%-0.31%. The treatment of impacted transmigrated canine is very complicated if it is diagnosed at a later stage. We report 4 cases of transmigration of mandibular canine and review the literature regarding the etiology and treatment. Panoramic radiograph should be taken during the mixed dentition period if the mandibular canine has not erupted from more than one year from its normal chronological age of eruption as intraoral periapical radiograph examination will not always detect an impacted or transmigrated canine.
Relapse of neuromyelitis optica spectrum disorder associated with intravenous lidocaine
Authors: Akiyuki Uzawa, Masahiro Mori, Saeko Masuda, Kazuhiko Aoe, Satoshi Kuwabara
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Lidocaine unmasks silent symptoms and eases neuropathic pain in multiple sclerosis patients; however, the effects of lidocaine in neuromyelitis optica have never been reported. We describe the case of a 59-year-old Japanese woman with neuromyelitis optica spectrum disorder who developed optic neuritis 1 day after intravenous lidocaine injection for treating allodynia. Her symptom seemed to result from a relapse of neuromyelitis optica induced by lidocaine administration, and not because of the transient effects of intravenous lidocaine administration. The possibility that lidocaine administration results in relapse of neuromyelitis optica due to its immunomodulating effects cannot be ruled out.
Case Report: A case of complete response to entrectinib in NTRK fusion gene-positive parotid gland cancer
Authors: Etsuko Moriyama, Sachiko Nagasu, Toshimitsu Tanaka, Yasutaka Shimotsuura, Takeharu Ono, Hirohito Umeno, Jun Akiba, Akihiko Kawahara, Fumihiko Fujita, Takumi Kawaguchi, Keisuke Miwa
Journal: Front Oncol (2023)
Keywords: etv6-ntrk3 fusion gene, ntrk fusion gene, case report, entrectinib, next-generation sequencing, parotid gland cancer, salivary gland carcinoma, secretory carcinoma
MeSH terms: Case Reports

Introduction:
Expression of the NTRK gene is rare in solid tumors but is highly prevalent in salivary gland secretory carcinomas. Here, we report a case of a complete response to entrectinib in a patient with NTRK fusion gene-positive parotid carcinoma.
Case description:
The patient was a 44-year-old man who underwent total left parotidectomy and left cervical lymph node dissection for a left parotid tumor at 24 years of age. The histopathological diagnosis was mammary analog secretory carcinoma. Postoperatively, the patient received only radiation therapy. Sixteen years after the surgery, the patient became aware of a mass in the left parotid region. A close examination revealed local recurrence and multiple cervical lymph node metastases. S-1 monotherapy was started as chemotherapy but was discontinued 3 years later because of disease progression. As there was no standard treatment, a comprehensive genomic profiling test using a next-generation sequencer was performed, and the ETV6-NTRK3 fusion gene was identified. Entrectinib, an NTRK inhibitor, was immediately administered at a dose of 600 mg/day. The local recurrence rapidly shrank grossly from the beginning of treatment, and a complete response was observed 6 months later. However, creatinine levels exhibited an increase at week 68 of treatment; consequently, entrectinib dosage was lowered to 400 mg/day, leading to an immediate improvement in creatinine levels. Entrectinib was associated with additional side effects, including dysgeusia, fatigue, dizziness, and weight gain, all of which were also alleviated by the reduction in entrectinib dose. Thirty months after treatment initiation, the patient maintained a complete response and continued to receive entrectinib.
Conclusion:
The NTRK fusion gene should always be checked in the presence of salivary gland secretory carcinoma.
Rare Occurrence of a Poorly Differentiated Neuroendocrine Tumor of the Bladder
Authors: Katherine Dowd, Charles Rotenberry, Douglas Russell, Mitchell Wachtel, Werner de Riese
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Neuroendocrine tumors rarely occur in the urinary bladder. They can be carcinomatous, subdivided into small cell and large cell pathology. Small cell carcinoma of the bladder is a rarity that may present at an advanced pathologic stage. No treatment regimens have been standardized for local or metastatic disease. Review of the recent literature shows equivalent survival data for localized disease treated with chemoradiotherapy combined with either bladder sparing surgery or radical cystectomy. Patients with significant comorbidities are an additional challenge. We report a case of poorly differentiated neuroendocrine tumor of the bladder, which could not be classified as small or large cell carcinoma, complicated by significant comorbidities. After management with transurethral resection of the tumor, adjuvant chemotherapy, and radiation, the patient is alive and asymptomatic nearly 1 year after initial TURBT with no evidence of disease recurrence.
Oral infection by Pseudomonas aeruginosa in patient with chronic kidney disease - a case report
Authors: Luana Carneiro Diniz Souza, Fernanda Ferreira Lopes, Eider Guimarães Bastos, Cláudia Maria Coelho Alves
Journal: J Bras Nefrol (2018)
MeSH terms: Mouth Diseases / etiology, Mouth Diseases / microbiology, Pseudomonas Infections / etiology, Pseudomonas aeruginosa, Renal Insufficiency, Chronic / complications, Case Reports, Child, Female, Humans

Chronic renal patients are more susceptible to hospital complications and infections such as urinary tract infections, peritonitis, surgery infections, and bacteremia, which are often caused by Pseudomonas aeruginosa. A case of a HIV-positive girl with chronic kidney disease and with serious oral lesions due to P. aeruginosa septic shock is presented. The patient showed necrotic lesions in the oral mucosa, pathological tooth mobility, bone loss, and hematogenous osteomyelitis in the maxilla. The patient was submitted to systemic antibiotic therapy based on screening culture and treatment of bone lesions by eliminating the causal agent and restoring health conditions. This case report is extremely important for health professionals, since the oral cavity can be affected by this pathogen or serve as a colonization site.
Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I
Authors: Sira Nanthapisal, Despina Eleftheriou, Kimberly Gilmour, Valentina Leone, Radhika Ramnath, Ebun Omoyinmi, Ying Hong, Nigel Klein, Paul A Brogan
Journal: Front Immunol (2018)
Keywords: autoinflammation, complement deficiency, complement factor i, infection, vasculitis
MeSH terms: Complement C3 / deficiency, Complement Factor I / genetics, Genetic Diseases, Inborn / genetics, Vasculitis, Leukocytoclastic, Cutaneous / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Complement C3 / genetics, Female, Hereditary Complement Deficiency Diseases, Humans, Infections, Recurrence, Complement C3, Complement Factor I, Complement Factor I Deficiency

Cutaneous leukocytoclastic vasculitis arises from immune complex deposition and dysregulated complement activation in small blood vessels. There are many causes, including dysregulated host response to infection, drug reactions, and various autoimmune conditions. It is increasingly recognised that some monogenic autoinflammatory diseases cause vasculitis, although genetic causes of vasculitis are extremely rare. We describe a child of consanguineous parents who presented with chronic cutaneous leukocytoclastic vasculitis, recurrent upper respiratory tract infection, and hypocomplementaemia. A homozygous p.His380Arg mutation in the complement factor I (CFI) gene CFI was identified as the cause, resulting in complete absence of alternative complement pathway activity, decreased classical complement activity, and low levels of serum factor I, C3, and factor H. C4 and C2 levels were normal. The same homozygous mutation and immunological defects were also identified in an asymptomatic sibling. CFI deficiency is thus now added to the growing list of monogenic causes of vasculitis and should always be considered in vasculitis patients found to have persistently low levels of C3 with normal C4.
Paraplegia after Hypotension with Pneumothorax Episode during Thoracic Spine Tumor Surgery
Authors: Zhao-Quan Liu, Jen-Hsien Liao, Chih-Ju Chang
Journal: Case Rep Neurol Med (2021)
MeSH terms: Case Reports

Paraplegia after spine surgery is a catastrophic complication. Here, we present a patient who, following laminectomy and fusion for decompression of metastatic tumor, developed paraplegia. We tried to find out the possible reason for the paraplegia. Due to prolonged hypotension during operation and new onset of pneumothorax, we think that intraoperative prolonged hypotension leads to the spinal cord ischemia which may cause neurological deterioration of paraplegia. Maintaining hemodynamic stability during spinal surgery is very important.
Description of Two Cases of Anaplastic Large Cell Lymphoma Associated with a Breast Implant
Authors: Julie Crèvecoeur, Véronique Jossa, Joan Somja, Jean-Claude Parmentier, Jean-Luc Nizet, André Crèvecoeur
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a recently recognized provisional entity in the 2017 revision of the World Health Organization classification of lymphoid neoplasms. Although the majority of the cases described in the literature demonstrate an effusion confined to the capsule of the breast implant, this rare pathology can also invade the capsule and adjacent tissues and/or involve lymph nodes. We hereby report two new cases of BIA-ALCL in a 58-year-old and a 47-year-old Caucasian female who received a silicone breast implant. The first patient showed a sudden and rapid right breast volume increase 6 years after the implantation surgery. As for the second patient, a left breast volume increase was observed also suddenly and quickly 11 years after surgery. In both cases, an uncompressed mammography was performed allowing a new approach to highlight periprosthetic fluid reaction. Pathologic examination of the fluid collection revealed atypical cells positive for CD30 and CD45 and negative for ALK and CK7. This allowed pathologists to diagnose a breast implant-associated anaplastic large cell lymphoma. Patients were treated with bilateral capsulectomy with no additional local or systemic therapy. The development of breast augmentation may come with an increase in the frequency of this pathology. Radiologists and senologists must therefore be careful when women with breast implants show an increase of breast volume and all cases of BIA-ALCL must be recorded and reported.