OpenMed/multicare-articles huggingface dataset:
Combined Ruxolitinib and Venetoclax Treatment in a Patient with a BCR-JAK2 Rearranged Myeloid Neoplasm
Authors: Coen J Lap, Samah Nassereddine, Min-Ling Liu, Victor E Nava, Anita Aggarwal
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Hematological malignancies with a BCR-JAK2 rearrangement have been described only sporadically in the literature over the last three decades. Although most patients suffer from a chronic myeloid neoplasm with marked eosinophilia, the clinical presentation varies significantly and can even manifest as a lymphoid malignancy. In this case report, we present a patient with a therapy-related BCR-JAK2 + myeloid neoplasm with extensive extramedullary disease localizing in the lymph nodes. While treatment with a JAK2 inhibitor (ruxolitinib) was not able to stop disease progression, combination treatment with inhibitors of both JAK2 and BCL2 (venetoclax) resulted in disease control for over 1.5 years. Combining these two inhibitors might be strategic in these patients, not only because BCL2 is a downstream target of JAK/STAT signaling but also because BCL2 is crucial for JAK2 inhibitor resistance. The recent inclusion of JAK2-rearranged malignancies in major classification systems and guidelines emphasizes the importance of not only getting a better understanding of the clinical phenotype of these rare disorders but also of identifying alternative treatment options for patients ineligible for allogeneic stem cell transplantation. Considering the low toxicity of combination treatment with these two small molecule inhibitors, this regimen could be further explored in future studies.
Mirror writing and a dissociative identity disorder
Authors: Catherine Le, Joyce Smith, Lewis Cohen
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Individuals with dissociative identity disorder (DID) have been known to show varied skills and talents as they change from one dissociative state to another. For example, case reports have described people who have changed their handedness or have spoken foreign languages during their dissociative states. During an interview with a patient with DID, a surprising talent emerged when she wrote a sentence for the Folstein Mini-Mental State Exam-mirror writing. It is not known whether her mirror writing had a deeper level of meaning; however, it does emphasize the idiosyncratic nature of dissociative identity disorder.
Patched Homolog 1 (PTCH1) Mutation in a CIC-Rearranged Sarcoma: Lack of Response to the Smoothened (SMO) Vismodegib
Authors: David J Wu, Paari Murugan, Keith M Skubitz
Journal: Cureus (2023)
Keywords: cic-rearranged sarcoma, ewing, ewing sarcoma family of tumors (esft), hedgehog, next-generation sequencing, personalized medicine, ptch1, sarcoma, tyrosine kinase inhibitor, vismodegib
MeSH terms: Case Reports

Next-generation sequencing (NGS) to identify potential targets is becoming a common approach to refractory tumors. We describe a patient with a CIC-DUX4 sarcoma that harbored a patched homolog 1 (PTCH1) mutation, a mutation not previously reported in so-called Ewing family tumors. PTCH1 is part of the hedgehog signaling pathway. Basal cell carcinomas (BCC) commonly have PTCH1 mutations, and those with PTCH1 mutations are often responsive to therapy with the hedgehog pathway inhibitor vismodegib. The effect of any mutation in a gene important in cell growth and division is likely dependent upon the background biochemistry of the cell. In the current case, vismodegib was not effective. This case is the first report of a PTCH1 mutation in an Ewing family tumor and demonstrates that the utility of targeting a potential mutation may depend upon many factors, including other mutations in the signaling pathway, and importantly, also the background biochemistry of the malignant cell that may prevent effective treatment targeting.
Colonic metastasis of renal cell carcinoma following curative nephrectomy: A case report and review of the literature
Authors: Özkan Subaşı, Mehmet Aziret, Kerem Karaman, Metin Ercan
Journal: Int J Surg Case Rep (2019)
Keywords: colon, metastasis, renal cell carcinoma

Introduction:
Renal cell carcinoma (RCC) is a rare tumor that comprises only 3% of adult cancers, while renal parenchymal tumors constitute 85% of all RCC cases. RCC frequently metastasizes to the lungs, bones, brain or liver; however, the gastrointestinal tract, particularly the colon, is an unusual location for metastasis.
Case report:
A 63-year-old male patient was admitted complaining of hematochezia. The patient had undergone left-side nephrectomy for RCC, 5 years previously. Computed tomography and colonoscopy detected a splenic flexure tumor and after left hemicolectomy and splenectomy, histopathological examination revealed a colonic metastasis of the renal cell carcinoma.
Discussion:
Cases of colonic metastasis following resection of a RCC are uncommon in the literature and their location can be very varied, but include the sigmoid colon, splenic flexure, transvers colon and hepatic flexure. Recurrence of RCC is frequently seen during the first three postoperative years, and surgical resection is suggested for solitary non-metastatic tumor.
Conclusion:
RCC rarely metastases to the colon but may occur years after curative resection. Therefore, RCC patients should be closely followed for the long term. In case of isolated metastasis, long-term survival can be achieved with R0 resection.
Assessing the validity and reliability of family factors on physical activity: A case study in Turkey
Authors: Sharalyn Steenson, Hilal Özcebe, Umut Arslan, Hande Konşuk Ünlü, Özgür M Araz, Mahmut Yardim, Sarp Üner, Nazmi Bilir, Terry T-K Huang
Journal: PLoS One (2018)
MeSH terms: Exercise, Family, Surveys and Questionnaires, Research Support, Non-U.S. Gov't, Adult, Child, Female, Humans, Male, Obesity / epidemiology, Obesity / physiopathology, Reproducibility of Results, Risk Factors, Turkey / epidemiology

Background:
Childhood obesity rates have been rising rapidly in developing countries. A better understanding of the risk factors and social context is necessary to inform public health interventions and policies. This paper describes the validation of several measurement scales for use in Turkey, which relate to child and parent perceptions of physical activity (PA) and enablers and barriers of physical activity in the home environment.
Method:
The aim of this study was to assess the validity and reliability of several measurement scales in Turkey using a population sample across three socio-economic strata in the Turkish capital, Ankara. Surveys were conducted in Grade 4 children (mean age = 9.7 years for boys; 9.9 years for girls), and their parents, across 6 randomly selected schools, stratified by SES (n = 641 students, 483 parents). Construct validity of the scales was evaluated through exploratory and confirmatory factor analysis. Internal consistency of scales and test-retest reliability were assessed by Cronbach's alpha and intra-class correlation.
Results:
The scales as a whole were found to have acceptable-to-good model fit statistics (PA Barriers: RMSEA = 0.076, SRMR = 0.0577, AGFI = 0.901; PA Outcome Expectancies: RMSEA = 0.054, SRMR = 0.0545, AGFI = 0.916, and PA Home Environment: RMSEA = 0.038, SRMR = 0.0233, AGFI = 0.976). The PA Barriers subscales showed good internal consistency and poor to fair test-retest reliability (personal α = 0.79, ICC = 0.29, environmental α = 0.73, ICC = 0.59). The PA Outcome Expectancies subscales showed good internal consistency and test-retest reliability (negative α = 0.77, ICC = 0.56; positive α = 0.74, ICC = 0.49). Only the PA Home Environment subscale on support for PA was validated in the final confirmatory model; it showed moderate internal consistency and test-retest reliability (α = 0.61, ICC = 0.48).
Discussion:
This study is the first to validate measures of perceptions of physical activity and the physical activity home environment in Turkey. Our results support the originally hypothesized two-factor structures for Physical Activity Barriers and Physical Activity Outcome Expectancies. However, we found the one-factor rather than two-factor structure for Physical Activity Home Environment had the best model fit. This study provides general support for the use of these scales in Turkey in terms of validity, but test-retest reliability warrants further research.
Case report: Persistent ST-segment elevation due to cardiac metastasis from lung cancer
Authors: Jiawei Zhou, Chengchuang Zhan, Jing Zhou, Chao Wei, Cao Zou
Journal: Front Cardiovasc Med (2023)
Keywords: st-segment elevation, cardiac metastasis, cardio-oncology, case report, lung cancer
MeSH terms: Case Reports

Patients with secondary cardiac cancer occasionally show ST segment elevation that mimics acute coronary syndrome despite the absence of coronary artery occlusion. We herein describe a rare case of secondary cardiac cancer that presented with ST-segment elevation. An 82-year-old Chinese man was admitted to the hospital with chest discomfort. Electrocardiography (ECG) showed ST segment elevation in the precordial leads and low-voltage QRS complexes in limb leads without the development of Q waves. Unexpectedly, emergency coronary angiography showed no significant stenosis of the coronary arteries. However, fortunately, transthoracic echocardiography (TTE) revealed massive pericardial effusion and a mass at the apex of the ventricular myocardium. Coincidentally, contrast-enhanced chest computed tomography showed primary lung cancer in the left lower lobe, pericardial effusion, and myocardial metastasis at the ventricular apex. The pericardiac fluid contained blood with significantly increased CEA levels and exfoliated tumor cells. The lung histopathological report suggested squamous cell carcinoma. Two months later, the patient died. These findings suggested that the persistent ST-segment without the development of Q waves was associated with ventricular invasion by primary lung cancer and may indicate a poor prognosis. In conclusion, physicians should be aware of persistent ST-segment elevation mimicking myocardial infarction due to cardiac metastasis with a poor prognosis.
The First Case of Familiar Anti-leucine-rich Glioma-Inactivated1 Autoimmune Encephalitis: A Case Report and Literature Review
Authors: Chuhan Ding, Qibing Sun, Ran Li, Hanli Li, Yu Wang
Journal: Front Neurol (2022)
Keywords: anti-leucine-rich glioma-inactivated1 autoimmune encephalitis, hla, lgi1, autoimmune encephalitis, case report
MeSH terms: Case Reports

Anti-leucine-rich glioma-inactivated1 (Anti-LGI1) autoimmune encephalitis is a rare autoimmune disease discovered in recent years. It is generally not defined as an inherited disease, though its etiology is still unclear. Herein, we report the first case of adult patients with familial anti-LGI1 encephalitis. Two biological siblings who worked in different regions were successively diagnosed with anti-LGI1 encephalitis in their middle age. The two patients had similar clinical manifestations including imaging results. Their clinical symptoms improved after immunotherapy and antiepileptic therapy. Given that some unique human leukocyte antigen (HLA) subtypes appear at a high frequency, multiple recent studies have revealed that anti-LGI1 encephalitis is associated with genetic susceptibility. One of the patients underwent HLA genotyping and whole-exome sequencing (WES), revealing the same HLA typing as in previous studies and two rare HLA variants. Therefore, further studies involving larger samples and more populations should be conducted to explore the possibility of other influencing factors such as environmental impacts.
Stents in renal artery bifurcation stenosis: a case report
Authors: Polytimi Leonardou, Paris Pappas
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

A 39-year-old patient presented with poorly controlled hypertension, and she was referred to renal angiogram and potential renal angioplasty. Renal angiogram showed a bifurcation lesion of the right renal artery. A guide wire was used to cross the upper branch, while the lower branch was protected by another same-type guide wire through the same introducer. Two thin monorail balloons were used to dilate the two branches; however, despite balloon dilatation, the stenosis of the vessels persisted. The "kissing balloon" technique was then attempted by simultaneously inflating both branches using the same balloons, but more than a 70% residual stenosis persisted in each branch. Two stents were finally placed in a "kissing" way through the main renal artery. The imaging and clinical results were good, without any procedure-related complications. Three years clinical followup was also good, without any reason for further interventional approach.
Eosinophilic Granulomatosis Polyangiitis (EGPA) Masquerading as a Mycotic Aneurysm of the Abdominal Aorta: Case Report and Review of Literature
Authors: Pooja Kumari, Debendra Pattanaik, Claire Williamson
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Introduction:
Aortic involvement leading to aortitis in eosinophilic granulomatosis polyangiitis (EGPA) is infrequent, and only 2 cases have been reported so far in the literature. Even more so, aortic aneurysm, secondary to EGPA, has never been reported and remains a diagnostic and therapeutic challenge. Case Presentation. We present a 63-year-old Caucasian male patient with a prior diagnosis of EGPA presenting with abdominal pain, nausea, and loose stools to the emergency department. Physical examination showed periumbilical tenderness. He had no peripheral eosinophilia but had high C-reactive protein and procalcitonin levels. CT abdomen revealed a mycotic aneurysm involving the infrarenal abdominal aorta. The patient declined surgical repair initially and was treated with IV antibiotics only. Unfortunately, 24 hours later, the aneurysm ruptured, leading to emergent axillofemoral bypass surgery. Surgical biopsy showed aortitis, periaortitis, and active necrotizing vasculitis.
Conclusion:
Abdominal aneurysms should be considered a complication of EGPA, and earlier immunosuppressive therapy should be considered to prevent further complications.
Chronic Corynebacterium striatum Septic Arthritis in a Patient Referred for Total Knee Arthroplasty
Authors: Katharine Hollnagel, Jacob Willen, Michael Ellis, Yalda Soleimanifard, Robert Booth, Sumon Nandi
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Background:
While Corynebacterium striatum and other Corynebacterium species were historically considered contaminants, they are recently being identified as pathogens with increasing frequency. Case Summary. We report the case of a 78-year-old gentleman with a three-year history of knee pain and established diagnosis of osteoarthritis referred for consideration for total knee arthroplasty. He had no knee pain with passive range-of-motion. Plain films demonstrated bony erosions atypical for osteoarthritis. Joint aspiration white blood cell count was 30,548/mm3, but multiple cultures were positive for C. striatum. The infection was successfully treated with open irrigation and debridement, complete synovectomy, and six weeks of intravenous daptomycin.
Conclusion:
To our knowledge, this is the first report of chronic C. striatum septic arthritis of a native joint and only the third case of C. striatum septic arthritis of the knee.C. striatum. The infection was successfully treated with open irrigation and debridement, complete synovectomy, and six weeks of intravenous daptomycin. C. striatum. The infection was successfully treated with open irrigation and debridement, complete synovectomy, and six weeks of intravenous daptomycin.
Case report: Traumatic carotid artery dissection after 7D High-Intensity Macro- and Micro-Focused Ultrasound treatment for skin laxity of the neck
Authors: Fenghe Du, Jiang Shao, Zhichao Lai, Kang Li, Chaonan Wang, Bao Liu
Journal: Front Cardiovasc Med (2022)
Keywords: 7d high-intensity macro- and micro-focused ultrasound, case report, peripheral vascular disease, surgery, traumatic carotid artery dissection
MeSH terms: Case Reports

Background:
Trauma is a relatively uncommon etiology of carotid artery dissection. Trauma is both penetrative and trivial, which can lead to carotid artery dissection. In the current study, we present an unusual case in which carotid artery dissection was potentially triggered by the damaging thermal effect of 7D High-Intensity Macro- and Micro-Focused Ultrasound (7D HIFU), which has been proposed as a safe and effective non-surgical modality for skin rejuvenation.
Case summary:
A 41-year-old woman developed headache and clinical manifestations of cerebral infarction after 7D HIFU, aimed at removing neckline. Head and neck magnetic resonance angiography (MRA) and computed tomography angiogram (CTA) revealed severe stenosis and dissection of the left internal carotid artery. Neither the patient's history nor the physical examination showed any special indicators. After resection of the left carotid artery dissection, autologous great saphenous vein interposition grafting, and simple mastoidectomy, the patient underwent head and neck MRA, which revealed recanalization of the left internal carotid artery.
Conclusion:
Although mild or moderate complications of 7D HIFU, such as erythema, edema, transient dysesthesia, and motor nerve paresis, have been previously reported, a few previous literature studies documented severe complications of the cosmetic procedure. However, many recent studies pointed out the possibility of 7D HIFU damaging adjacent non-target tissues due to inadequate focal depth of HIFU treatment. Our case is the first to indicate that 7D HIFU could cause carotid artery dissection. We propose that better visualization systems and more rigorous operator training are needed to reduce the risk of the potential off-target damaging effect of 7D HIFU by reporting the case in which the damaging heat effect of 7D HIFU precipitated the carotid artery dissection HIFU.
Case Report: Severe thrombocytopenia induced by adalimumab in rheumatoid arthritis: A case report and literature review
Authors: Tiantian Liao, Mengqing Li, Tian Yuan, Qifu Hong, Yu Zeng, Dan Yu, Qiong Yu, Limei Yu, Tao Pu
Journal: Front Pharmacol (2022)
Keywords: adalimumab, biologic therapy, complication, rheumatoid arthritis, thrombocytopenia
MeSH terms: Case Reports

Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by persistent joint inflammation. In recent decades, biological agents such as anti-tumor necrosis factor-α (TNF-α) drugs have been applied in the treatment of RA and it achieved great improvement. The treatment has its side effects, but severe thrombocytopenia is very rare. In this case report we described the occurrence of severe thrombocytopenia in a patient with RA who was treated with adalimumab. Specially, the symptoms of the RA are not significantly improved by adalimumab treatment and severe thrombocytopenia it induced is resistant to treatment. After receiving four doses of adalimumab, the patient's platelet count dropped to 4 × 103/μl. We halted adalimumab and administered glucocorticoids, interleukins, and platelet transfusion. On the sixth day, the platelet count rose to 52 × 103/μl. Lab tests and bone marrow pictures were unremarkable. Patient was treated with prednisone for maintenance. On day 17, the platelet count declined to 12 × 103/μl. We started the patient on methylprednisolone and recombinant human thrombopoietin (rh-TPO), but the effect was not significant. On day 25, intravenous immune globulin (IVIG) was applied in place of the rh-TPO. On 29th day, the patient's platelets returned to normal. We summarized the existing literature on thrombocytopenia induced by anti-TNF-α drugs. This case suggested immunoglobulins could be considered for the treatment of refractory thrombocytopenia.
Basal cell carcinoma of the prostate with squamous metaplasia: A case report and literature review
Authors: Junwei Wang, Cunming Zhang, Baijun Chen, Qingqing Wu
Journal: Front Oncol (2023)
Keywords: basal cell carcinoma, dyspareunia, focal squamous differentiation, prostate, squamous metaplasia
MeSH terms: Case Reports

Basal cell carcinoma of the prostate (BCCP) is a rare tumor with a total incidence of 140 cases to date. However, BCCP with squamous metaplasia has not been reported as of date. In this paper, we report the first case of BCCP with squamous metaplasia. The patient was hospitalized for progressive dyspareunia and had been treated for recurrent urinary retention four times in 5 years. Rectal examination showed that the prostate was medium in texture with no palpable nodules. The levels of total prostate specific antigen (tPSA), free prostate specific antigen (fPSA), and fPSA/tPSA (f/t) ratio were 1.29 ng/mL, 0.4 ng/mL, and 0.31, respectively. Ultrasound of the urinary tract showed that the prostate gland was 51 mm*40 mm*38 mm in size. We performed transurethral resection of the prostate. Histopathology confirmed the diagnosis of basal cell carcinoma with focal squamous differentiation, and immunohistochemical staining was positive for P63 and 34βE12. A laparoscopic radical prostatectomy was performed 45 days after the first surgery and the postoperative pathology showed a small amount of residual tumor with negative margins and no involvement of the seminal vesicles and vas deferens. The patient was followed up for 50 months and was doing well by the end of our study. We describe the clinical symptoms, pathological features, treatment, and prognosis of patients with BCCP with squamous metaplasia. The relevant published literature is also briefly reviewed.
Simultaneous ORIF for bilateral comminuted proximal humerus fractures: Case report in an elderly patient
Authors: Joseph Maalouly, Dany Aouad, Nabil Dib, Antonios Tawk, Georges El Rassi
Journal: Int J Surg Case Rep (2019)
Keywords: case report, orif, shoulder, trauma

Introduction:
Bilateral proximal humerus fractures are rather rare and occur due to high energetic traumas in young patients and even low energetic traumas in older patients having osteoporosis. Open reduction and internal fixation (ORIF) is the most popular treatment for this type of fracture while other types of treatment such as arthroplasty or conservative treatment are also, but less commonly used.
Presentation of case:
This report presents the case of an 80 years old female patient with bilateral proximal humerus fractures and a history of hypothyroidism. The patient was treated with simultaneous open reduction and internal fixation and presented a normal and full-range motion in both shoulders after follow-up.
Discussion:
Frequency of proximal humerus fractures has increased with the increase in life expectancy. Osteoporotic people are at higher risk. Around five percent of all extremity fractures are humerus proximal end fractures for people below 40 years old and 76 % for cases of people over 40 years old, with females being more susceptible. ORIF is the treatment of choice for such fractures. Replacement arthroplasty, minimally invasive techniques and conservative management are other options depending on fracture characteristics.
Conclusion:
This is an interesting rare case of simultaneous bilateral proximal humerus fractures in an elderly female patient, treated operatively with satisfactory results on follow up.