OpenMed/multicare-articles huggingface dataset:
Case report: Methylphenidate improved chronic pain in an adult patient with attention deficit hyperactivity disorder
Authors: Ekachaeryanti Zain, Atsunori Sugimoto, Jun Egawa, Toshiyuki Someya
Journal: Front Psychiatry (2023)
Keywords: adult adhd, attention deficit hyperactivity disorder, case report, chronic pain, methylphenidate
MeSH terms: Case Reports

Introduction:
Chronic pain remains a health problem that is difficult to treat adequately. Its unknown cause and complex comorbidity with other illnesses, including mental disorders, amplify the severity of symptoms, which consequently decreases the quality of life of patients long term. In our clinical practice, we coincidentally found evidence that methylphenidate (MPH) effectively managed chronic pain in an adult patient with attention deficit hyperactivity disorder (ADHD). The effectiveness of MPH in the treatment of ADHD is well-established; however, its utility in treating pain remains unclear.
Case presentation:
We present a rare case of a 43-year-old male patient with 15 years of chronic idiopathic pain symptoms that did not adequately respond to standard pain management, such as acetaminophen, non-opioid analgesics, and muscle relaxers. Pain also persisted after treatments with antidepressants and an epidural block. Furthermore, symptoms worsened following several sessions of modified electroconvulsive therapy. After a thorough assessment at our child and adolescent psychiatric outpatient clinic, we confirmed a diagnosis of adult ADHD with a predominantly inattentive type. Considering this newly established diagnosis, we prescribed osmotic-release oral system (OROS) methylphenidate. Within 1 month of treatment at a dose of 18 mg/day of OROS-MPH, the patient's chronic pain unexpectedly improved dramatically, and the patient no longer experienced pain symptoms. The dosage of OROS-MPH was titrated monthly, reaching 72 mg/day as a maintenance dose, and ADHD symptoms improved after 4 months of treatment. The patient was followed up regularly for 7 years during his OROS-MPH treatment. No adverse effects were reported, including stimulant addiction. He was stable overall and functioned well in his daily activities. His pain never recurred.
Conclusion:
This case report suggests that MPH may be potentially effective in treating chronic pain. Further studies are needed to confirm whether MPH improved chronic pain simultaneously with or separately from the improvement in ADHD. Moreover, elucidating the anatomical sites and molecular pharmacological mechanisms related to the action of MPH in pain modulation and perception is essential. Such sites include the descending dopaminergic pain pathway and higher cortical areas. Furthering our understanding may reinforce the justification for treating chronic pain using MPH.
de novo interstitial deletions at the 11q23.3-q24.2 region
Authors: Jiasun Su, Rongyu Chen, Jingsi Luo, Xin Fan, Chunyun Fu, Jin Wang, Sheng He, Xuyun Hu, ShuJie Zhang, Shang Yi, Shaoke Chen, Yiping Shen
Journal: Mol Cytogenet (2016)
Keywords: chromosomal microarray, contiguous gene deletion syndrome, interstitial deletion, jacobsen syndrome
MeSH terms: Case Reports

Background:
Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving 11q terminal deletion. Interstitial deletions at distal 11q are rare and their contributions to the clinical phenotype of JBS are unknown.
Case presentation:
We presented the chromosome microarray (CMA) data and the clinical features of two individuals carrying a non-overlapping de novo deletion each at the 11q23.3-q24.2 region in an effort to analyze the correlation between region of deletion at 11q and phenotype. Both deletions are likely pathogenic for patient's condition. The deletion at 11q23.3q24.1 is associated with short stature, relative microcephaly, failure to thrive, hypotonia and sleeping disorder. The deletion at 11q24.2 involves HEPACAM and our patient's clinical presentation (relative macrocephaly, abnormal MRI, mild developmental delay and seizure) is not inconsistent with Megalencephalic leukoencephalopathy with subcortical cysts 2B.
Conclusions:
Our finds support the notion that more than one critical region at 11q23.3-qter are responsible for the variable clinical presentation of JBS, thus JBS is a true contiguous gene deletion syndrome where multiple loci contributed to the clinical characteristics of JBS. Small interstitial deletions at 11q23.3-q24.2 and their associated unique features also suggest emerging novel genomic disorders.
Thermal Esophageal Injury following Ingestion of Boiling Mushroom Water
Authors: Allison Prevost, Adam Talley, Emily Klepper, Elizabeth McDonough
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Thermal esophageal and gastric damage from ingestion of hot liquids is poorly studied in pediatrics. Limited case reports exist in the literature. Many cases presented with chest pain, dysphagia, and odynophagia. Variable histologic findings were reported. No definitive management guidelines exist for such injuries. We provide a report of the acute assessment and management of an obvious thermal esophageal injury and contribute to what is known about this presentation. A 16-year-old male presented with odynophagia, dysphagia, and hematemesis following ingestion of "nearly boiling" mushroom water. Ondansetron, pantoprazole, ketorolac, maintenance intravenous fluids, and a clear liquid diet were started. At sixty hours after ingestion, an esophagogastroduodenoscopy (EGD) revealed blistering and edema of the soft palate and epiglottis, circumferential erythema of the entire esophagus with an exudate likely to be desquamated mucosa, and linear erythema of the body and fundus of the stomach. An EGD one month after ingestion showed no residual effects from the injury. The pantoprazole was weaned and restrictions to his diet were lifted. To better standardize care in these rare esophageal injuries, the development of a clinical care algorithm may be beneficial to provide clinicians with a guide for management based on outcomes of previously reported cases.
Cisplatin and short-term 5-Fluorouracil infusion for paraneoplastic microangiopathic hemolytic anemia in gastric cancer: a case report and review of the literature
Authors: M S Sanatani, A Lazo-Langner, I M Al-Rasheedy
Journal: Case Rep Oncol Med (2013)

Microangiopathic hemolytic anemia is a rare paraneoplastic syndrome accompanying adenocarcinoma of the stomach. We report on a patient presenting with anemia due to a combination of severe hemolysis and tumour bleeding, where the combination of cisplatin and 5-fluorouracil in a short course infusional regimen led to a complete response of the hematologic abnormalities in the first line setting. Relapse was successfully treated with second line docetaxel; however the response was relatively short-lived. Overall survival was 16 months from diagnosis, which compares favourably to the survival of other reported cases. The chemotherapy regimens used in previously reported similar cases are reviewed. We suggest that a regimen based on bolus 5-fluorouracil, possibly with a platinum, should be investigated as a possible regimen of choice.
A Preliminary Report on Brain-Derived Extracellular Vesicle as Novel Blood Biomarkers for Sport-Related Concussions
Authors: Keisuke Kawata, Masato Mitsuhashi, Randy Aldret
Journal: Front Neurol (2018)
Keywords: concussion, ice hockey, microvesicle, mild traumatic brain injury, neurotrauma, subconcussion

The purpose of the study was to test the utility of unique panel of blood biomarkers as a means to reflect one's recovery process after sport-related neurotrauma. We established a panel of biomarkers that reacted positive with CD81 (extracellular vesicle marker) and various neuron- and glia-specific antigens [e.g., neurofilament light polypeptide (NF-L), tau, synaptosome-associated protein 25 (SNAP25), glial fibrillary acidic protein, and myelin basic protein]. We first evaluated test-retest reliabilities of brain-derived exosome markers, followed by an application of these markers in eight professional ice hockey players to detect cumulative neuronal burden from a single ice hockey season. During the season, two players were diagnosed with concussions by team physician based on an exhibition of symptoms as well as abnormality in balance and ocular motor testing. One player reached symptom-free status 7 days after the concussion, while the other player required 36 days for symptoms to completely resolve. Blood samples and clinical assessments including balance error scoring system and near point of convergence throughout recovery process were obtained. Biomarkers indicative of axonal damage, neuronal inflammation, and glial activation showed excellent test-retest reliabilities (intraclass correlation coefficient: 0.713-0.998, p's < 0.01). There was a statistically significant increase in the NF-L marker at post-season follow-up compared to pre-season baseline (Z = -2.100, P = 0.036); however the statistical significance did not withstand Bonferroni correction for multiple comparisons. In concussion cases, neuronal and microglia markers notably increased after concussions, with the unique expression patterns being similar to that of concussion recovery process. These longitudinal data coupled with excellent test-retest reliabilities of novel array of blood biomarkers potentially reflect the damage in neural cell structures and metabolic crisis due to concussion. However, future studies with larger sample size and appropriate control groups to evaluate sensitivity and specificity of these markers are needed. This preliminary case report suggests the potential utility of multimodal blood biomarkers for concussion prognosis and recovery assessment.
Impact of Intensive Physiotherapy on an Adolescent with Severe Genu Valgum Deformities: A Case Report
Authors: Ayush S Agrawal, Pratik Phansopkar
Journal: Cureus (2023)
Keywords: electrotherapy, gait training, genu valgum, physiotherapy, quality of life
MeSH terms: Case Reports

The genu valgum is one of the anomalies of the lower extremities in the coronal plane (knocked knees). Children might be vulnerable to it as well. It may also be hereditary, with females being more likely to develop it. A 14-year-old female patient had severe genu valgum anomalies of the bilateral lower extremities. The patient is in pain, unable to stand, and sit on the ground. On the numerical pain rating scale (NPRS), the level of pain was rated as 8/10 while activity and 5/10 during rest. The patient received physiotherapy treatment for a total of six weeks, which included exercises, electrotherapy, and gait training. As a result, the patient experienced a reduction in pain, which was rated 2/10 while activity and 1/10 during rest, and an improvement in range of motion, and functional activities. Correcting the gait, enhancing the quality of life, and restoring functional ability are all significantly impacted by physiotherapy. Based on the current case study, conventional physical therapy improved functional goals gradually and significantly, which in turn potentially aided in a successful recovery.
Lysozyme amyloidosis - a case report and review of the literature
Authors: Christopher Pleyer, Jan Flesche, Fahad Saeed
Journal: Clin Nephrol Case Stud (2015)
Keywords: lysozyme amyloidosis, pericardial involvement
MeSH terms: Case Reports

Lysozyme amyloidosis is an exceedingly rare hereditary autosomal dominant amyloidosis, which is characterized by the precipitation of lysozyme protein within the body, leading to multi-organ dysfunction. Herein, we present the case of a U.S. family affected by lysozyme amyloidosis. In particular, we report pericardial disease involvement leading to recurrent pericardial effusion, which to our knowledge has not been described yet. To our knowledge, we have also for the first time identified the amyloidogenic component of lysozyme amyloidosis via laser microdissection and mass spectrometry from a bone marrow biopsy. The diagnosis of this disease remains challenging as it can be easily mistaken for primary amyloidosis, which also presents with similar symptoms. Immunohistochemical staining of tissue for specific amyloidogenic proteins allows for an accurate diagnosis and should be performed in all amyloidosis patients in order to spare patients from potentially futile or harmful therapy. The widespread systemic involvement of lysozyme amyloidosis currently provides limited options for treatment, although kidney and/or liver transplantation appear to be promising palliative treatments. Practicing clinicians and researchers need to collect more information about this rare entity to further characterize the behavior of this disease and develop new potential treatment strategies.
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
Authors: Charles A Steward, Jolien Roovers, Marie-Marthe Suner, Jose M Gonzalez, Barbara Uszczynska-Ratajczak, Dmitri Pervouchine, Stephen Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Lepine, Electra Tapanari, Don Keiller, Stephen Abbs, Alba Sanchis-Juan, Detelina Grozeva, Anthony S Rogers, Mark Diekhans, Roderic Guigó, Robert Petryszak, Berge A Minassian, Gianpiero Cavalleri, Dimitrios Vitsios, Slavé Petrovski, Jennifer Harrow, Paul Flicek, F Lucy Raymond, Nicholas J Lench, Peter De Jonghe, Jonathan M Mudge, Sarah Weckhuysen, Sanjay M Sisodiya, Adam Frankish
Journal: NPJ Genom Med (2019)
Keywords: medical genomics, molecular medicine

The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. Here, we explore the incompleteness of transcript models used for exome and genome analysis as one potential explanation for a lack of current diagnoses. Therefore, we have updated the GENCODE gene annotation for 191 epilepsy-associated genes, using human brain-derived transcriptomic libraries and other data to build 3,550 putative transcript models. Our annotations increase the transcriptional 'footprint' of these genes by over 674 kb. Using SCN1A as a case study, due to its close phenotype/genotype correlation with Dravet syndrome, we screened 122 people with Dravet syndrome or a similar phenotype with a panel of exon sequences representing eight established genes and identified two de novo SCN1A variants that now - through improved gene annotation - are ascribed to residing among our exons. These two (from 122 screened people, 1.6%) molecular diagnoses carry significant clinical implications. Furthermore, we identified a previously classified SCN1A intronic Dravet syndrome-associated variant that now lies within a deeply conserved exon. Our findings illustrate the potential gains of thorough gene annotation in improving diagnostic yields for genetic disorders.
Legionellosis from Legionella pneumophila serogroup 13
Authors: Barzo Faris, Camelia Faris, Mona Schousboe, Christopher H Heath
Journal: Emerg Infect Dis (2005)
MeSH terms: Legionella pneumophila / classification, Legionellosis / physiopathology, Case Reports, Adult, Fatal Outcome, Female, Humans, Legionella pneumophila / isolation & purification, Legionella pneumophila / pathogenicity, Legionellosis / drug therapy, Male, Middle Aged, Water Microbiology

We describe 4 cases of Legionella pneumophila serogroup 13-associated pneumonia. These cases originate from a broad geographic range that includes Scotland, Australia, and New Zealand. L. pneumophila serogroup 13 pneumonia has a clinically diverse spectrum that ranges from relatively mild, community-acquired pneumonia to potentially fatal severe pneumonia with multisystem organ failure. All cases were confirmed by culture and direct fluorescent antibody staining or indirect immunofluorescent antibody tests. Proven or putative sources of L. pneumophila serogroup 13 infections in 2 patients included a contaminated whirlpool spa filter and river water. An environmental source was not found in the remaining 2 cases; environmental cultures yielded only other L. pneumophila serogroups or nonpneumophila Legionella species. We describe the clinical and laboratory features of L. pneumophila serogroup 13 infections. L. pneumophila serogroup 13 pneumonia is rarely reported, but it may be an underrecognized pathogenic serogroup of L. pneumophila.
Cardiac angiosarcoma
Authors: Monique Esteves Cardoso, Leonardo Secchin Canale, Rosana Grandelle Ramos, Edson da Silva Salvador Junior, Stephan Lachtermacher
Journal: Case Rep Cardiol (2011)
MeSH terms: Case Reports

Despite cardiac metastases are found in about 20% of cancer deaths, the presence of primary cardiac tumors is rare. Most primary tumors are benign, and malignant tumors comprise about 15%. We report a 21-year-old man with fever, dyspnea, and hemoptysis that was diagnosed with angiosarcoma of the right atrium and pulmonary metastasis. Patient was submitted to surgical tumor resection without adjuvant therapy and died four months after diagnosis.
Three different morphologies of inferior vena cava thrombosis: case reports
Authors: Satoshi Okayama, Yasuki Nakada, Shiro Uemura, Yoshihiko Saito
Journal: Case Rep Vasc Med (2014)

Inferior vena cava (IVC) thrombosis is a rare but significant complication in hospitalized patients. However, relevant information regarding IVC thrombosis, especially on its morphology, remains scarce. We present three cases of IVC thrombosis, with each showing a different morphology: mural, floating, and small polyp-like thrombus.
Case report: Recovery of long-term delayed complete atrioventricular block after minimally invasive transthoracic closure of ventricular septal defect
Authors: Jin Lu, Xingchen Lian, Ping Wen, Yuhang Liu
Journal: Front Cardiovasc Med (2023)
Keywords: complete atrioventricular block, minimally invasive transthoracic occlusion, occluder, rhythm, ventricular septal defect
MeSH terms: Case Reports

Introduction:
Long-term delayed complete atrioventricular block (CAVB) is a serious complication of ventricular septal defect (VSD) closure treatment. Thus, cardiac surgeons have made significant efforts to explore its causes and reduce its incidence. In recent years, minimally invasive transthoracic closure (MITC) of VSD has been used widely and successfully in China as it is easy to repeat, ensures individualized closure, and can be debugged repeatedly. Theoretically, the possibility of the recurrence of CAVB is lower than that with transcatheter closure. Although the incidence of CAVB after MITC of VSD is inevitable, long-term delayed CAVB has rarely been reported.
Case description:
Herein, we report a case of delayed CAVB that occurred 2 years and 5 months after performing MITC of a perimembranous VSD. The cardiac rhythm recovered after the occluder was removed surgically.
Conclusion:
The findings of our case report emphasize that since delayed CAVB may occur in the long term after MITC of VSD, the safety of MITC of VSD should be reassessed, the indications for MITC should be strictly followed, and long-term follow-up, including lifelong follow-up, is recommended for patients postoperatively. In addition, the occluder should be removed surgically in patients with CAVB as it may restore normal heart rhythm.
Case Report: Immune Checkpoint Inhibitor-Induced Exuberant Tumor Inflammation With Accelerated Clinical Deterioration in Metastatic Renal Cell Carcinoma
Authors: Dharmesh Gopalakrishnan, Rohit K Jain, Laurie Herbst, Marcus Sikorski, Silpa Mandava, Gissou Azabdaftari, Bo Xu, Charles LeVea, Kevin Robillard, Marc S Ernstoff, Saby George
Journal: Front Oncol (2021)
Keywords: immune checkpoint inhibitor, nivolumab, pseudoprogression, renal-cell carcinoma, tumor inflammation
MeSH terms: Case Reports

Immune checkpoint inhibitors (ICIs) have revolutionized cancer therapy. Nivolumab, an anti-PD-1 monoclonal antibody, markedly improved overall survival in advanced renal cell carcinoma (RCC). However, ICIs can rarely trigger massive inflammation, a phenomenon characterized by rapid acceleration in radiographic tumor growth, the mechanisms underlying which are largely unknown. We report three patients with metastatic RCC who experienced rapid radiographic progression and clinical deterioration following treatment with nivolumab. However, histological analysis revealed no viable cancer despite the evidence of radiological progression. Instead, extensive necrosis and lymphohistiocytic infiltration were noted, as described previously in patients with ICI-induced pseudoprogression. Based on these observations, we postulate that exuberant antitumor inflammatory responses may contribute to adverse clinical outcomes in some patients with ICI-induced radiographic progression. Prospective studies incorporating tumor biopsies may shed more light on this rare phenomenon.
Elimination of refractory ventricular tachycardia storm and fibrillation using stereotactic radiotherapy
Authors: Alexander Wutzler, Borris Tiedke, Mohamed Osman, Noha Mahrous, Reinhard Wurm
Journal: Clin Case Rep (2023)
Keywords: radioablation, stereotactic ablation, ventricular storm, ventricular tachycardia
MeSH terms: Case Reports

Ventricular tachycardia storm is a potentially lethal condition with limited treatment options. Failed ablation is associated with a fourfold mortality increase in this population. Stereotactic body radiotherapy was proposed in these cases. We report a case where radiotherapy was safely performed, leading to the elimination of adequate shocks.
Cholecystocolonic fistula: A rare case report of Mirizzi syndrome
Authors: C A Esparza Monzavi, X Peters, M Spaggiari
Journal: Int J Surg Case Rep (2019)
Keywords: case report, cholecystocolonic fistula, cholecystoenteric fistula, mirizzi syndrome

Introduction:
Mirizzi syndrome is a rare complication of gallstone disease that more rarely is associated with the formation of cholecystoenteric fistula.
Presentation of case:
The patient presented with a five-day history of abdominal pain in the right upper quadrant (RUQ), nausea, and emesis. Further ultrasound (US) imaging demonstrated a large gallstone with associated thickened gallbladder with pericholecystic fluid. Computed tomography (CT) imaging, preoperative Hepatobiliary Scintigraphy and Endoscopic Retrograde Cholangiopancreatography (ERCP) displayed findings consistent with a Csendes type IV Mirizzi syndrome associated with cholecystocolonic fistula. Description of surgical approach, management and outcome is presented.
Discussion:
Surgical management of Mirizzi syndrome varies by classification of its severity. Open operation is preferred in cases with severe inflammation and concern for malignancy. The patient underwent a cholecystocolonic fistula takedown. A cholecystectomy was attempted though aborted due to concerns of malignancy. Biopsies returned negative for malignancy and the patient demonstrated findings on ERCP consistent with Mirizzi syndrome. Stenting of the common bile duct (CBD) was performed with ERCP and later the patient underwent an open biliary exploration with subsequent choledochotomy, biliary stone removal, and primary closure with interrupted sutures using remnant gallbladder wall flaps.
Conclusion:
To our knowledge, Mirizzi syndrome with concurrent cholecystocolonic fistula is exceedingly rare with a paucity of reports within the literature. Our report discusses principles of management of Mirizzi syndrome as well as best practices of surgical management for Mirizzi syndrome with concurrent cholecystocolonic fistula.