OpenMed/multicare-articles huggingface dataset:
Chromosome 2 Interstitial Deletion (del(2)(q14.1q22.1) Syndrome With Novel Skeletal and Central Nervous System Features
Authors: Rayyan Albarakati, Faroug Ababneh, Mohammed Alharbi, Rakan S Alzahrani, Mohammed F Almutairi
Journal: Cureus (2023)
Keywords: congenital dislocation of the knee, congenital hip dislocation, congenital vertical talus, de novo mutation, neural tube defects (ntds), q2 chromosomal deletion
MeSH terms: Case Reports

In this report, we present the case of a Saudi baby boy with a rare de novo interstitial deletion of chromosome 2q14.1-q22.1. His karyotype was confirmed as 46,XY 1(?)q14.2-1q21.3) but further investigation using chromosomal microarray analysis yielded the deletion breakpoints as 2q14.1q22.1. To date, only 10 cases have been reported within or spanning the deletion of the 2q13-2q22.1 region. In comparison to the established cases, our proband shares similar features, such as bitemporal narrowing, deep vein thrombosis, and horseshoe kidney. However, our proband presented with new features which included congenital knee dislocation, congenital vertical talus, bilateral hip dislocation, and myelomeningocele. Moreover, all the reported cases share GLI2 deletion which may reflect the phenotypic features in patients with the deletion of 2q14.1q22.1.
Use of ICG imaging to confirm bowel viability after upper mesenteric stenting in patient with acute mesenteric ischemia: Case report
Authors: Khitaryan Аlexander, Miziev Ismail, Murlychev Alexander, Taranov Ivan, Voronova Olga, Shatov Dmitry, Golovina Anastasiya, Melnikov Denis
Journal: Int J Surg Case Rep (2019)
Keywords: acute mesenteric ischemia, case report, endovascular intervention, indocyanine green imaging

Introduction:
Acute mesenteric ischemia (AMI) is a rare and life-threatening disease. Despite modern advances in open and endovascular treatments it has unacceptably high mortality rate.
Presentation of case:
A 70-year-old man with NSTEMI was diagnosed with acute mesenteric ischemia on the 3rd day after primary coronary intervention. CT with intravenous contrast revealed a generalized abdominal aorta atherosclerosis and a circular thrombus in SMA. Then a superior mesenteric angiography with aspiration thrombectomy, percutaneous transluminal angioplasty and stenting was performed. The next day abdominal pain still persisted. A diagnostic laparoscopy with ICG fluorescence was implemented. There were no ischemia and necrotic changes. The patient was alive at 4 months after the operative treatment of AMI.
Discussion:
In patients with myocardial infarction, atrial fibrillation, accompanied by any invasive procedure, especially endovascular, the incidence of thrombosis and thromboembolic complications is high. This is the key to the suspicion of such a serious complication as AMI. It can be assumed that in some cases, with adequate revascularization of the small intestine, reperfusion syndrome may occur and cause ischemic necrosis of the intestinal wall. In this case it is necessary to perform control laparoscopy in 24-48 h.
Conclusion:
In patients with suspected AMI timely applying of MDCT, angiography, endovascular revascularization and ICG quality control of perfusion after revascularization are expedient to improve the results of treatment. These patients should be treated by a multidisciplinary team consisting of a cardiologist, a cardiovascular and endovascular surgeon, a general surgeon with experience in working with such patients.
Case report: A colorectal cancer patient with microsatellite instability-high and MSH2 germline mutation failed to respond to anti-PD-1 immunotherapy
Authors: Qun Zhang, Jing Hu, Yaping Zhang, Li Li, Ting Wang, Xiaoping Qian
Journal: Front Immunol (2022)
Keywords: anti-pd1 therapy, colorectal cancer, lynch syndrome, microsatellite instability-high, resistance
MeSH terms: Colorectal Neoplasms, Hereditary Nonpolyposis / drug therapy, Colorectal Neoplasms, Hereditary Nonpolyposis / genetics, Microsatellite Instability, Case Reports, Research Support, Non-U.S. Gov't, Germ-Line Mutation, Humans, Immunotherapy, MutS Homolog 2 Protein / genetics, MSH2 protein, human, MutS Homolog 2 Protein

Lynch syndrome (LS) is characterized by germline mutations in the DNA mismatch repair (MMR) genes. In colorectal cancer (CRC), germline mutations of DNA MMR genes commonly lead to microsatellite instability-high (MSI-H) subtype formation. Recent studies have demonstrated that CRC patients with MSI-H or mismatch repair-deficient (dMMR) status can benefit from anti-PD1 immunotherapy. However, almost 50% of CRC patients with MSI-H status do not respond to it. It is reported that heterogeneity of tumor and abnormal activation of cancer-related signaling pathways contribute to resistance to anti-PD1 therapy. To improve the clinical efficacy of such patients, the underlying mechanisms of resistance to anti-PD1 treatment must be explored. In this case, we describe an LS-associated CRC patient with MSI-H who suffered resistance to anti-PD1 therapy. Here, we attempted to elucidate the potential reasons, and thus appropriate strategies may be derived to overcome this clinical problem.
Persistent Cryptococcal Brain Infection despite Prolonged Immunorecovery in an HIV-Positive Patient
Authors: Tom Wingfield, Jo Baxter, Amit Herwadkar, Daniel du Plessis, Tom J Blanchard, F Javier Vilar, Anoop Varma
Journal: Case Rep Neurol Med (2014)

Background. HIV-positive people starting combined antiretroviral therapy may develop immune reconstitution to latent or treated opportunistic infections. Immune reconstitution to cerebral Cryptococcus is poorly understood and can be fatal. Case Presentation. A 33-year-old Zimbabwean female presented with cryptococcal meningitis and newly diagnosed HIV with a CD4 count of 51 cells/ μ L (4%). She was treated with amphotericin and flucytosine. Combined antiretroviral therapy was started four weeks later and she showed early improvement. However, over the ensuing 18 months, her clinical course was marked by periodic worsening with symptoms resembling cryptococcal meningitis despite having achieved CD4 counts ≥400 cells/ μ L. Although initially treated for relapsing cryptococcal immune reconstitution syndrome, a brain biopsy taken 17 months after initial presentation showed budding Cryptococci. Conclusion. This unusually protracted case highlights the difficulties in differentiating relapsing cryptococcal meningitis from immune reconstitution and raises questions concerning the optimum timing of initiation of combined antiretroviral therapy in such patients.
Bilateral persistent pupillary membrane with tetralogy of fallot: a case report and review of the literature
Authors: A Altun, S A Kurna, E Bozkurt, G Erdogan, G Altun, O O Olcaysu, S F Aki
Journal: Case Rep Ophthalmol Med (2014)

Case Report. A 15-year-old boy presented to the Fatih Sultan Mehmet Education and Research Hospital with the complain of bilateral vision blurring associated with severe glare and photophobia. On ophthalmological examination, uncorrected visual acuity was 20/200 in the right eye and 20/100 in the left eye, and there was no improvement with pinhole testing. The slit-lamp examination showed persistent pupillary membranes (PPM) in both eyes. According to the history obtained from his parents, he had received cardiac surgery for tetralogy of Fallot (TOF) 8 years ago. Conclusion. This patient is unique because this is the first reported case of bilateral PPM with congenital heart anomaly in the literature. Bilaterality of the eye anomaly strengthens the possibility of an uncommon association between PPM and TOF, rather than local failure in embryonic development.
Renal pelviceal keratinizing squamous metaplasia with sparing of pyramidal zones
Authors: Richard H Siderits, Jared Fingerman, Anup Hazra, Cheryl Rimmer, Marc Colaco, Nagy Mikhail, Cristian Ardeleanu, Peter M Mazari
Journal: Case Rep Urol (2012)
MeSH terms: Case Reports

Metaplastic changes in the urothelium of the upper urinary tract are relatively infrequent. Metaplasia may present as either squamous or less often glandular differentiation. The process may be associated with chronic inflammation or associated chronic infections. There may be malignant transformation to either squamous cell carcinoma or adenocarcinoma. The demarcation of the metaplastic process in the minor calyces has not been well documented to date. We report the case of a 74-year-old female patient who presented with a history of chronic renal disease and acute pyohydronephrosis. The patient underwent a nephroureterectomy which revealed keratinizing desquamative squamous metaplasia throughout the renal pelvis and upper urinary tract with abrupt termination of metaplasia at the junction of the renal pelvis and the minor calyx (pyramidal zone). Immunohistochemical evaluation documents metaplastic urothelium stained positive for CK5, before converting sharply to simple cuboidal epithelium in the minor calyx (pyramidal zones) which stained positive CK7. At the junction of the metaplastic components and low cuboidal lined minor calyceal surfaces, the underlying stroma showed loss of ureteral muscularis mucosa with transition to renal parenchymal type stroma. We believe that this observation is unique and potentially relevant to the etiology and pathophysiology of pelviceal metaplasia.
Combined pulmonary lobectomy for surgical treatment of a malignant fibrous histiocytoma of the chest wall: a case report
Authors: Yi Liu, Gang Chen, Yi Wu, Renwang Liu, Song Xu, Jun Chen, Qinghua Zhou
Journal: Diagn Pathol (2014)
MeSH terms: Histiocytoma, Malignant Fibrous / pathology, Histiocytoma, Malignant Fibrous / surgery, Thoracic Neoplasms / pathology, Thoracic Neoplasms / surgery, Thoracic Wall / pathology, Case Reports, Research Support, Non-U.S. Gov't, Female, Humans, Middle Aged, Pneumonectomy

Background:
A malignant fibrous histiocytoma (MFH) rarely originates from the chest wall.
Clinical findings:
In this case, we describe a 59-year-old Chinese woman who presented with an enormous mass originating from the left chest wall and involving the left upper pulmonary lobe.
Therapy:
After a radical en-block resection of the entire chest mass with left upper pulmonary lobectomy, and the chest wall reconstruction, a histopathologic diagnosis of the giant cell MFH was rendered. She has done well postoperatively, showing no local recurrence or distal disease in an 8-month follow-up period.
Conclusion:
Although a MFH originating from the chest wall is rare, it should be considered in the differential diagnosis of a chest wall tumor.
Virtual slides:
The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/8895569301129379.
Cyclophosphamide-Induced Cardiomyopathy: A Case Report, Review, and Recommendations for Management
Authors: Sumandeep Dhesi, Michael P Chu, Gregg Blevins, Ian Paterson, Loree Larratt, Gavin Y Oudit, Daniel H Kim
Journal: J Investig Med High Impact Case Rep (2013)
Keywords: cardiomyopathy, cardiotoxicity, cyclophosphamide, heart failure, mechanical circulatory support, myocarditis

Cyclophosphamide is increasingly used to treat various types of cancers and autoimmune conditions. Higher doses of this drug may produce significant cardiac toxicity, including fatal hemorrhagic myocarditis. In this review, we present a case of cyclophosphamide-induced cardiomyopathy requiring mechanical circulatory support. We also describe the pathophysiology, clinical manifestations, and risk factors for this important clinical entity and propose early detection and management strategies.
An unusual localization of retroperitoneal paraganglioma: a case report
Authors: Mohamed Said Belhamidi, Moulay Brahim Ratbi, Mohamed Tarchouli, Tariq Adioui, Abdelmounaim Ait Ali, Aziz Zentar, Khalid Sair
Journal: Pan Afr Med J (2015)
Keywords: retroperitoneal, paraganglioma, surgery
MeSH terms: Aorta, Abdominal / pathology, Paraganglioma / pathology, Retroperitoneal Neoplasms / pathology, Case Reports, Abdominal Pain / etiology, Adult, Aorta, Abdominal / surgery, Female, Humans, Paraganglioma / diagnosis, Paraganglioma / surgery, Retroperitoneal Neoplasms / diagnosis, Retroperitoneal Neoplasms / surgery, Tomography, X-Ray Computed

Paragangliomas are rare tumors arising from extra-adrenal chromaffine tissues. The diagnosis of non-functional retroperitoneal paraganglioma and its surgical management can be difficult. We report a case of a retroperitoneal paragangliomaof an unusual localization that renders the surgery more challenging. A 40 year-old woman presented to our department with a four-month history of upper quadrant pain with no vomiting, no fever, nor jaundice. Physical examination was normal. Ultrasonography showed a retro duodenal homogenous mass and computed tomographyscan showed a well-circumscribed round mass of heterogeneous density, which was in close contact with the aorta and the left kidney vein. Laboratory tests were normal. The patient underwent surgical management. The surgical exploration found a retroperitoneal tumor that was encapsulated and showing intimate contact with the abdominal aorta. We performed a complete resection of the tumor. Histological examination of the surgical specimen revealed a paraganglioma. The post operative course was uneventful. Paragangliomas are rare tumors. They can be asymptomatic for a long time and thus be diagnosed at late stage. A follow-up of patients is then essential. Surgical treatment is the only radical treatment and should be performed even in paragangliomas in close contact with the great vessels.
Psychosocial wellbeing and physical health among Tamil schoolchildren in northern Sri Lanka
Authors: Alexander Hamilton, Charlie Foster, Justin Richards, Rajendra Surenthirakumaran
Journal: Confl Health (2016)
Keywords: conflict, mental health, physical health, sri lanka

Background:
Mental disorders contribute to the global disease burden and have an increased prevalence among children in emergency settings. Good physical health is crucial for mental well-being, although physical health is multifactorial and the nature of this relationship is not fully understood. Using Sri Lanka as a case study, we assessed the baseline levels of, and the association between, mental health and physical health in Tamil school children.
Methods:
We conducted a cross sectional study of mental and physical health in 10 schools in Kilinochchi town in northern Sri Lanka. All Grade 8 children attending selected schools were eligible to participate in the study. Mental health was assessed using the Sri Lankan Index for Psychosocial Stress - Child Version. Physical health was assessed using Body Mass Index for age, height for age Z scores and the Multi-stage Fitness Test. Association between physical and mental health variables was assessed using scatterplots and correlation was assessed using Pearson's R.
Results:
There were 461 participants included in the study. Girls significantly outperformed boys in the MH testing t (459) = 2.201, p < 0.05. Boys had significantly lower average Body Mass Index for age and height for age Z scores than girls (BMI: t (459) = -4.74, p <0.001; Height: t (459) = -3.54, p < 0.001). When compared to global averages, both sexes underperformed in the Multi-Stage Fitness Test, and had a higher prevalence of thinness and stunting. We identified no meaningful association between the selected variables.
Conclusions:
Our results do not support the supposition that the selected elements of physical health are related to mental health in post-conflict Sri Lanka. However, we identified a considerable physical health deficit in Tamil school children.
Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies
Authors: Weigang Ji, Xiangtian Kong, Honggang Yin, Jian Xu, Xueqian Wang
Journal: Front Genet (2022)
Keywords: smpd4, arthrogryposis, early death, microcephaly, neurodevelopmental disorder (ndd), null variants, structural brain anomalies
MeSH terms: Case Reports

The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA). Here, we report a girl of Chinese ancestry with intrauterine growth restriction, microcephaly, postnatal developmental delay, arthrogryposis, hypertonicity, seizure, and hypomyelination on brain magnetic resonance imaging; biallelic null variants (c.1347C > G [p.Tyr449*]; Chr2 [GRCh37]: g.130877574_131221737del [whole-gene deletion]) were detected by whole-exome sequencing. Our case is the first report of NEDMABA of Chinese ancestry, confirming the involvement of SMPD4 in NEDMABA and expanding the mutation spectrum of this syndrome.
Bilateral globus pallidus interna deep brain stimulation in the treatment of mixed cerebral palsy in ataxia with dyskinesia: a case report
Authors: Lei Chang, Bei Luo, Wenwen Dong, Chang Qiu, Yue Lu, Jian Sun, Jiuqi Yan, Wenbin Zhang, Jun Yan
Journal: Front Neurol (2023)
Keywords: deep brain stimulation, globus pallidus interna, mixed cerebral palsy, neurodevelopment, neuromodulation
MeSH terms: Case Reports

Background:
Cerebral palsy (CP), a complex syndrome with multiple etiologies, is characterized by a range of movement disorders within the hypokinetic and hyperkinetic spectrum (dystonia or choreoathetosis). CP is often accompanied by neurological and psychiatric signs, such as spasticity, ataxia, and cognitive disorders. Although current treatment options for CP include pharmacological interventions, rehabilitation programs, and spasticity relief surgery, their effectiveness remains limited. Deep brain stimulation (DBS) has demonstrated significant effectiveness in managing dyskinesia; however, its potential therapeutic effect on CP remains determined.
Methods:
We present a case of a 44-year-old Asian female who was born as a twin with neonatal ischemic-hypoxic encephalopathy due to prolonged labor and delivery. She was diagnosed with CP at the age of 1 year. The patient exhibited delayed development compared to her peers and presented with various symptoms, including slurred speech, broad-based gait, horseshoe inversion of the right lower extremity, involuntary shaking of the upper extremities bilaterally, and hypotonia and showed no improvement with levodopa therapy. Two years ago, she developed progressive head tremors, which worsened during periods of tension and improved during sleep. As medical treatments proved ineffective and there were no contraindications to surgery, we performed bilateral globus pallidus interna DBS (GPi-DBS) to alleviate her motor dysfunction.
Results:
Following a 6-month follow-up, the patient demonstrated significant improvements in motor symptoms, including head and limb tremors and dystonia. In addition, significant improvement was observed in her overall psychological well-being, as evidenced by reduced anxiety and depression levels.
Conclusion:
DBS is an effective treatment for dyskinesia symptoms associated with CP in adults. Moreover, its effectiveness may continue to increase over time.
Spontaneous Flexor Tendon Rupture due to Primary Distal Radioulnar Joint Osteoarthritis
Authors: Akira Hashimoto, Motoki Sonohata, Hideyuki Senba, Masaaki Mawatari
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Spontaneous flexor tendon rupture is rare, occurring most commonly in the little finger or flexor pollicis longus. To the best of our knowledge, there have been no reports of spontaneous flexor tendon rupture due to primary distal radioulnar joint (DRUJ) osteoarthritis (OA). We present a case of spontaneous flexor tendon rupture in the index finger due to primary DRUJ OA in a 71-year-old female farmer. Surgical exploration confirmed that, at the wrist joint level, the flexor digitorum profundus of the index finger had undergone degeneration and complete rupture. The flexor digitorum superficialis of the index finger was elongated and thinned. A bony spur toward the volar side was covered with synovial fluid from a pinhole-sized perforation of the capsule. The combination of direct friction from the DRUJ spur and the matrix metalloproteinases in the synovial fluid from the perforation of the DRUJ capsule may have caused the spontaneous flexor tendon rupture. Palmar-side symptoms associated with DRUJ OA should be carefully examined because of the risk of spontaneous flexor tendon rupture.
Metagenomic next-generation sequencing clinches the diagnosis of Legionella pneumonia in a patient with acute myeloid leukemia: A case report and literature review
Authors: Siqiang Niu, Limin Zhao
Journal: Front Cell Infect Microbiol (2022)
Keywords: legionella pneumonia, case, literature review, metagenomic next-generation sequencing, pathogen diagnosis
MeSH terms: Legionella / genetics, Leukemia, Myeloid, Acute / complications, Pneumonia / diagnosis, Review, Case Reports, Humans, Metagenomics

Legionella pneumonia caused by Legionella pneumophila is a multi-system disease that is a life-threatening, acute, and severe form of pneumonia. L. pneumophila is widespread and the clinical manifestations of Legionella pneumonia are similar to those of typical and atypical pneumonia. Current diagnostic scores and radiologic evidence have limited diagnostic value. Thus, it is likely that many cases of Legionella pneumonia remain unreported. We describe a woman with a medical history of acute myeloid leukemia who suffered from repeated fever, and no relief following initial empirical antibiotic treatment. Ultimately, she was diagnosed with Legionella pneumonia based on metagenomic next-generation sequencing (mNGS). We also performed a systematic review of the literature and identified 5 other patients who were diagnosed with Legionella pneumonia using mNGS, and reviewed their clinical characteristics, biological characteristics, epidemiological features, laboratory results, clinical findings, and treatments. This literature review showed that accurate etiological diagnosis is becoming increasingly essential for a definitive diagnosis and treatment strategies. The clinical manifestations of Legionella pneumonia are non-specific, and many routine laboratory diagnostic tests cannot identify Legionella. mNGS, an indispensable approach for identifying microorganisms, can provide a promising tool for the rapid and accurate etiological diagnosis methods contributing to early diagnosis, early treatment, and improved prognosis, especially for uncommon species such as L. pneumophila.
Successful Treatment of Olecranon Bursitis Caused by Trueperella bernardiae: Importance of Environmental Exposure and Pathogen Identification
Authors: Ivan Gowe, Christopher Parsons, Michael Best, Eveline Parsons, Scott Prechter, Stephen Vickery
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

A livestock farmer with a history of arthropathy presented with unilateral olecranon bursal swelling and tenderness. Multiple wound and intraoperative cultures revealed growth of Trueperella bernardiae, a Gram-positive coccobacillus, with symptom resolution following appropriate antimicrobial therapy. To our knowledge, this is the first case report of olecranon bursitis caused by this organism. Coryneform bacteria are often regarded as contaminants in clinical cultures, but advanced techniques for species identification may reveal expanded pathogenic potential of individual species like T. bernardiae and elucidate epidemiologic clues for osteoarticular infections in these cases.