OpenMed/multicare-articles huggingface dataset:
Testicular Cancer Presenting as Gastric Variceal Hemorrhage
Authors: Carlos Eduardo Salazar-Mejía, David Hernández-Barajas, Edio Llerena-Hernández, José Luis González-Vela, María Inés Contreras-Salcido, Adriana González-Gutiérrez, Omar David Borjas-Almaguer, Luis Alberto Pérez-Arredondo, Blanca Otilia Wimer-Castillo
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Testicular cancer is the most common solid malignancy affecting males between the ages of 15 and 35. The symptomatology caused by this tumor varies according to the site of metastasis. We present the case of a 26-year-old male who arrived to the emergency department with hematemesis. He had no previous medical history. On arrival, we noted enlargement of the left scrotal sac. There was also a mass in the left scrotum which provoked displacement of the penis and right testis. The serum alpha-fetoprotein level was 17,090 ng/mL, lactate dehydrogenase was 1480 U/L, and human chorionic gonadotropin was 287.4 IU/mL. Upper endoscopy revealed a type 1 isolated gastric varix, treated with cyanoacrylate. A CT scan showed extrinsic compression of the portal vein by lymphadenopathy along with splenic vein partial thrombosis, which caused left-sided portal hypertension. Neoadjuvant chemotherapy was started with etoposide and cisplatin, and seven days later the patient underwent left radical orchiectomy. A postoperative biopsy revealed a pure testicular teratoma. Noncirrhotic left portal hypertension with bleeding from an isolated gastric varix secondary to metastasic testicular cancer has not been described before. Clinicians must consider the possibility of malignancy in the differential diagnosis of a young man presenting with unexplained gastrointestinal bleeding.
Posttransplant Lymphoproliferative Disease Presenting as an Extracranial Mass
Authors: Reuben J Arasaratnam, Alejandro Restrepo
Journal: Case Rep Transplant (2017)
MeSH terms: Case Reports

Posttransplant lymphoproliferative disease is a serious complication following stem cell and solid organ transplantation. Early recognition of the disease is important in facilitating timely therapy and improving long-term outcomes. We report a renal transplant recipient presenting with an extracranial frontoparietal soft tissue mass that was subsequently diagnosed as a B-cell lymphoma. The patient was treated successfully with immunosuppression reduction, anti-CD20 monoclonal antibody therapy, and cytotoxic chemotherapy. Our case highlights the importance of recognizing soft tissue masses in the head and neck as a potential clinical manifestation of PTLD in solid organ transplant recipients.
Apocrine carcinoma of breast: a case report with review of the literature
Authors: Jyotsna V Wader, Akash Jain, Suresh J Bhosale, Pandurang G Chougale, Sujata S Kumbhar
Journal: Case Rep Pathol (2013)

Apocrine carcinoma is a very rare form of breast malignancy with an incidence of <1% of female invasive breast carcinoma. We report a case of apocrine carcinoma in a 42-year female with marked adenosis showing apocrine metaplasia and discuss the criteria to diagnose apocrine carcinoma with the emerging concept of androgen receptor positivity with its implication on treatment and management of the patient.
Management of Long-Term Sores and Ulcers of Breast Cancer Survivors With Chinese Herbal Medicines: A Case Report
Authors: Yuanfeng Zhang, Bing Zhang, Weilong Zhou, Tao Lu
Journal: Front Psychiatry (2022)
Keywords: chinese herbal medicine, breast cancer survivors, cancer metastatic recurrence, post-radiofrequency ablation wound, psychosocial support, sore and ulcer
MeSH terms: Case Reports

Background:
The treatment of long-term sores and ulcers of breast cancer metastatic recurrence is a serious challenge with successful cases rarely being documented. Herein we reported a successful case using the internal vitality supporting method of Chinese herbal medicine (CHM).
Case summary:
A 59-year-old female Chinese patient, 10 years after breast cancer surgery, developed metastatic lesions in the lung. Thereafter she received radiofrequency ablation and adjuvant treatments for 1 year with severe sequelae, a right unhealed sore and ulcer. She became frustrated and depressive. And subsequently sought exclusive treatment under the guidance of a Traditional Chinese Medicine (TCM) physician. The patient's condition was categorized as a Qi (or vitality) deficiency-related sore and ulcer. In the next six months, the patient still follows a traditional Chinese medicine therapeutic regimen based on the internal vitality supporting method of Chinese herbs.
Conclusion:
The sore and ulcer from the surgical wound were healed. Up to now, the tumor markers have remained stable. TCM personalized survivorship treatment and psychosocial support can help patients improve their quality of life after acute treatment and in the long-term for cancer survivors.
Disseminated Histoplasmosis with Miliary Histoplasmosis, Neurohistoplasmosis, and Histoplasma capsulatum Bacteremia in Probable Neurosarcoidosis
Authors: Peter V Bui
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Introduction:
Neurosarcoidosis, either isolated or as part of systemic sarcoidosis, is an uncommon entity and has diagnostic uncertainty. Treatment for neurosarcoidosis can increase the risk of infections, including fungal infections such as disseminated histoplasmosis. Neurosarcoidosis may further predispose patients to infections of the central nervous system.
Case presentation:
A 54-year-old male with a history of probable neurosarcoidosis on methotrexate and infliximab presented with encephalopathy, hypoxia, and reported fevers. The patient was found to have disseminated histoplasmosis involving the lungs (miliary histoplasmosis), central nervous system (neurohistoplasmosis), and bloodstream. The Histoplasma capsulatum infection was treated with amphotericin and then voriconazole.
Discussion:
Patients with neurosarcoidosis are suspected to have blood-brain barrier dysfunction. Lumbar puncture should be considered as part of initial investigative studies for infection. Empiric antimicrobial therapy for a patient with neurosarcoidosis on immunosuppressive agents may need to include antifungal agents.
A Rare Presentation of Checkpoint Inhibitor Induced Distal RTA
Authors: Andrew V Doodnauth, Miriam M Klar, Zohra R Malik, Krunal H Patel, Samy I McFarlane
Journal: Case Rep Oncol Med (2021)
MeSH terms: Case Reports

Immune checkpoint inhibitors have opened a new era in treating advanced malignancies, resulting in a rapid increase in utilization, given the remarkable clinical outcomes. The incidence of immune-related adverse events increased due to the immunologic effects of these therapeutic agents. However, immune-related renal adverse events remain low, representing only a small incidence of reported cases. Common renal toxicity described includes acute interstitial nephritis, minimal change disease, and immune complex glomerulonephritis. Renal tubular acidosis has occasionally been reported but is highly uncommon. This report presents a case of a 68-year-old woman with a known history of metastatic melanoma undergoing treatment with ipilimumab+nivolumab, who developed distal renal tubular acidosis requiring stress dose steroids and sodium bicarbonate for treatment. We describe the clinical characteristics, potential mechanisms, and management of this case, highlighting the need among clinicians utilizing immune check inhibitors to be aware of this immune-related disease entity.
Comparison between karyotyping-FISH-reverse transcription PCR and RNA-sequencing-fusion gene identification programs in the detection of KAT6A-CREBBP in acute myeloid leukemia
Authors: Ioannis Panagopoulos, Synne Torkildsen, Ludmila Gorunova, Anne Tierens, Geir E Tjønnfjord, Sverre Heim
Journal: PLoS One (2014)
MeSH terms: CREB-Binding Protein / genetics, Histone Acetyltransferases / genetics, Leukemia, Myeloid, Acute / genetics, Oncogene Proteins, Fusion / genetics, Case Reports, Comparative Study, Research Support, Non-U.S. Gov't, Adult, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, RNA, Translocation, Genetic, Oncogene Proteins, Fusion, CREB-Binding Protein, CREBBP protein, human, Histone Acetyltransferases, KAT6A protein, human

An acute myeloid leukemia was suspected of having a t(8;16)(p11;p13) resulting in a KAT6A-CREBBP fusion because the bone marrow was packed with monoblasts showing marked erythrophagocytosis. The diagnostic karyotype was 46,XY,add(1)(p13),t(8;21)(p11;q22),der(16)t(1;16)(p13;p13)[9]/46,XY[1]; thus, no direct confirmation of the suspicion could be given although both 8p11 and 16p13 seemed to be rearranged. The leukemic cells were examined in two ways to find out whether a cryptic KAT6A-CREBBP was present. The first was the "conventional" approach: G-banding was followed by fluorescence in situ hybridization (FISH) and reverse transcription PCR (RT-PCR). The second was RNA-Seq followed by data analysis using FusionMap and FusionFinder programs with special emphasis on candidates located in the 1p13, 8p11, 16p13, and 21q22 breakpoints. FISH analysis indicated the presence of a KAT6A/CREBBP chimera. RT-PCR followed by Sanger sequencing of the amplified product showed that a chimeric KAT6A-CREBBP transcript was present in the patients bone marrow. Surprisingly, however, KATA6A-CREBBP was not among the 874 and 35 fusion transcripts identified by the FusionMap and FusionFinder programs, respectively, although 11 sequences of the raw RNA-sequencing data were KATA6A-CREBBP fragments. This illustrates that although many fusion transcripts can be found by RNA-Seq combined with FusionMap and FusionFinder, the pathogenetically essential fusion is not always picked up by the bioinformatic algorithms behind these programs. The present study not only illustrates potential pitfalls of current data analysis programs of whole transcriptome sequences which make them less useful as stand-alone techniques, but also that leukemia diagnosis still relies on integration of clinical, hematologic, and genetic disease features of which the former two by no means have become superfluous.
Severe diarrhea in a 4-month-old baby girl with acute gastroenteritis: a case report and review of the literature
Authors: Ionela Loredana Guzganu
Journal: Case Rep Gastrointest Med (2012)
MeSH terms: Case Reports

A 4.5-month-old baby girl presented to hospital with a 2-day history of watery diarrhea and fever. Rehydration and electrolytic balance were restored with intravenous fluid therapy followed by oral rehydration solution but diarrhea did not improve by the fourth day of hospitalization despite treatment with a probiotic. The patient was next treated with gelatin tannate, a medical device recently marketed in Europe to control and reduce the symptoms of diarrhea in infants, children, and adults. The child's diarrhea improved considerably within the first twelve hours and resolved completely within three days. Gelatin tannate might be considered as a useful treatment complementary to oral rehydration solution for the treatment of diarrhea in infants with rotavirus gastroenteritis.
Primary lymphocutaneous nocardiosis in an immunocompetent patient
Authors: Sofia Maraki, Stavros Chochlidakis, Eleni Nioti, Yannis Tselentis
Journal: Ann Clin Microbiol Antimicrob (2004)

Background:
Nocardia brasiliensis is a rare human pathogen usually associated with localized cutaneous infections.
Case presentation:
We report a case of primary lymphocutaneous Nocardia brasiliensis infection developed after a bone fracture of the left hand of an otherwise healthy 32-year-old man. Treatment with trimethoprim-sulfamethoxazole given for a total of three months combined with surgical debridement resulted in complete resolution of the infection.
Conclusion:
Nocardiosis should be part of the differential diagnosis in patients with sporotrichoid infection, particularly those with a history of outdoor injury. Culture of the affected tissue and antimicrobial susceptibility testing of the isolate should be performed for diagnosis and treatment.
Case Report: Artifactual Hypoglycemia: A Condition That Should Not Be Forgotten
Authors: Sara Amaral, Ana Palha, Vera Bernardino, José Silva-Nunes
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: artifactual hypoglycemia, autoimmune diseases, capillary blood glucose, hypoglycemia, raynaud’s phenomenon
MeSH terms: Diabetes Mellitus, Hypoglycemia / diagnosis, Hypoglycemia / etiology, Case Reports, Awareness, Blood Glucose, Female, Humans, Memory Disorders, Middle Aged, Blood Glucose

Background:
Hypoglycemia is uncommon in people who are not being treated for diabetes mellitus and, when present, the differential diagnosis is broad. Artifactual hypoglycemia describes discrepancy between low capillary and normal plasma glucose levels regardless of symptoms and should be considered in patients with Raynaud's phenomenon.
Case presentation:
A 46-year-old female patient with a history of a sleeve gastrectomy started complaining about episodes of lipothymias preceded by sweating, nausea, and dizziness. During one of these episodes, a capillary blood glucose was obtained with a value of 24 mg/dl. She had multiple emergency admissions with low-capillary glycemia. An exhaustive investigation for possible causes of hypoglycemia was made for 18 months. The 72h fasting test was negative for hypoglycemia. A Raynaud's phenomenon was identified during one appointment.
Conclusion:
Artifactual hypoglycemia has been described in various conditions including Raynaud's phenomenon, peripheral arterial disease, Eisenmenger syndrome, acrocyanosis, or hypothermia. With this case report, we want to reinforce the importance of being aware of this diagnosis to prevent anxiety, unnecessary treatment, and diagnostic tests.
Successful treatment of a patient with advanced lung adenocarcinoma (EGFR-T790M and C797S cis) with lazertinib: A case report and literature review
Authors: Yue Fang, Qiankun Zhang, Weimin Wang, Juanjuan Tong, Xialin Li
Journal: Front Oncol (2023)
Keywords: c797s, egfr-t790m, case report, lazertinib, lung adenocarcinoma
MeSH terms: Case Reports

Lazertinib has been shown to treat non-small cell lung cancer (NSCLC) patients with EGFR-T790M, Ex19del, and L858R mutations. However, there are still no studies to prove that lazertinib could be used in patients with EGFR-T790M and C797s cis mutations in NSCLC. We report a case of a patient with advanced lung adenocarcinoma with EGFR-T790M and C797s cis mutations who were treated with lazertinib and achieved satisfactory efficacy without serious side effects. And the scratch assay and colony-forming unit assay were performed using lung adenocarcinoma cells from patients, the results showed that both lazertinib and amivantamab could inhibit the proliferation and migration of lung adenocarcinoma cells to some extent, and the inhibitory effect of lazertinib was better than that of amivantamab (p < 0. 01), while the inhibitory effect of lazertinib combined with amivantamab was not statistically different from that of lazertinib alone(p>0.05). This finding suggests that lazertinib may be an effective treatment option for patients with lung adenocarcinoma presenting with EGFR-T790M and C797s cis mutations.
Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly
Authors: Zhongling Ke, Yanhui Chen
Journal: Front Pediatr (2020)
Keywords: ctnnb1 gene, case report, neurodevolpmental disorder, polydactyly, retinal detachment
MeSH terms: Case Reports

CTNNB1 gene mutation was firstly reported related to intellectual disability in 2012, to explore the clinical phenotype and genotype characteristics of CTNNB1 mutation, we collected and analyzed the clinical data of a child with a neurodevelopmental disorder caused by a mutation of CTNNB1. The child had dysmorphic features, microcephaly, hypotonia, polydactyly, retinal detachment, and neurodevelopmental disorder, with a de novo mutation of CTNNB1 c.1603C > T, p.R535X. The patient was diagnosed as Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) and was given rehabilitation training. After 4 months of rehabilitation training, she improved in gross motor function. We found that CTNNB1 mutation can cause neurodevelopmental disorder, which could be accompanied by retinal detachment and polydactyly. The retinal detachment had only been reported in two Asian patients, and we firstly reported the phenotype of polydactyly in the CTNNB1 mutation. This report not only helps to expand the clinical phenotype spectrum of the CTNNB1 gene mutation but also prompts a new insight into genetic diagnosis in patients with a neurodevelopmental disorder, retinal detachment, and polydactyly.
Case Report: Sustained Efficacy of Lumasiran at 18 Months in Primary Hyperoxaluria Type 1
Authors: Benedetta Chiodini, Nathalie Tram, Brigitte Adams, Elise Hennaut, Ksenija Lolin, Khalid Ismaili
Journal: Front Pediatr (2022)
Keywords: rnai therapeutic, children, kidney stones, lumasiran, primary hyperoxaluria
MeSH terms: Case Reports

Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate, ultimately responsible for kidney stones, kidney failure and systemic oxalosis. Lumasiran, is a liver-directed RNA interference therapeutic agent. It has been shown to reduce hepatic oxalate production by targeting glycolate oxidase, and to dramatically reduce oxalate excretion. Care Report: We present the case of a teenager patient affected by PH1, who entered in the lumasiran compassionate use program. The patient had a rapid and sustained decrease in urinary oxalate/creatinine ratio, with a mean reduction after lumasiran administration of about 70%. During the 18 months long follow-up, urinary oxalate remained low, reaching nearly normal values. Plasma oxalate also decreased dramatically. Normal levels were reached immediately after the first dose and remained consistently low thereafter. During the same follow-up period, eGFR remained stable at about 60 ml/min/1.73 m2, but no new kidney stones were observed. Existing kidney stones did not increase in size. The patient did not suffer renal colic events and did not require further urological interventions. Conclusion: In our severely affected PH1 patient, lumasiran proved to be very effective in rapidly and consistently reducing plasma oxalate and urinary excretion to normal and near-normal levels, respectively. In the 18 months long follow-up post-lumasiran, the eGFR remained stable and the patient showed clinical improvements. As far as we know, this report covers the longest observation period after initiation of this novel RNAi therapy.
Another "great mimicker": FDG-PET/CT imaging findings of sarcoid-like reaction
Authors: A T K Kendi, B J Barron, D Bonta, R K Halkar, B Rathore, D M Schuster
Journal: BJR Case Rep (2015)

Sarcoid-like reaction (SLR) is a cause of non-caseating granulomas in some of the cancer patients with otherwise no signs or symptoms of sarcoidosis. SLR has been described in a variety of solid organ malignancies, including breast and lung cancer. SLR may result in hypermetabolic activity in 18-fludeoxyglucose positron emission tomography (PET)/CT scan, resulting in false positive reporting for malignancy. The purpose of this case series is to expose residents/practising physicians who interpret PET/CT to a series of cases illustrating findings of SLR.
Case Series: Evidence of Borderzone Ischemia in Critically-Ill COVID-19 Patients Who "Do Not Wake Up"
Authors: Letitia Pirau, Lauren Ottenhoff, Craig A Williamson, Shahid N Ahmad, Rafael Wabl, Andrew Nguyen, Laura Faiver, Venkatakrishna Rajajee
Journal: Front Neurol (2020)
Keywords: covid-19 (2019-ncov), borderzone infarction, cerebral ischemia, coma, encephalopathy, magnetic resonance imaging
MeSH terms: Case Reports

This article describes the clinical course, radiological findings, and outcome of two patients with the novel 2019 coronavirus disease (COVID-19) who remained comatose for a prolonged duration following discontinuation of all sedation. These two male patients, one aged 59-years and another aged 53-years, both with a history of hypertension and neurologically intact on admission, developed worsening COVID-19 associated acute respiratory distress syndrome (ARDS). Both required benzodiazepine, opioid, neuromuscular blockade, therapeutic anticoagulation, and vasopressor infusions in addition to renal replacement therapy. Echocardiography demonstrated normal chamber size and systolic function in both cases. Each patient demonstrated only trace flexion to pain 7-10 days following discontinuation of all sedation. Magnetic Resonance Imaging on both patients demonstrated multifocal lesions on diffusion weighted imaging with apparent diffusion coefficient correlate in bilateral middle/anterior cerebral artery borderzones, and no large-vessel occlusion or severe stenosis. In both patients, continuous electroencephalography demonstrated no seizures. Neither patient had any documented period of sustained hypotension (mean arterial pressure <60 mmHg) or hypoxia (SpO2 <90%). Ninety days following initial presentation, the 59-years-old man was oriented, with fluent speech and able to ambulate with assistance, while the other 53-years-old man was at home and independent, undertaking the basic activities required by daily living. We conclude that critically-ill COVID-19 patients with prolonged coma following sedation discontinuation may demonstrate imaging features of ischemic injury in borderzone regions despite the absence of documented sustained hypotension or hypoxia. However, substantial neurological recovery is possible despite these findings.
Arthroscopic bony bankart repair using double-threaded headless screw: a case report
Authors: Takeshi Kokubu, Issei Nagura, Yutaka Mifune, Masahiro Kurosaka
Journal: Case Rep Orthop (2012)
MeSH terms: Case Reports

We present a case of arthroscopic fixation for bony Bankart lesion using a double-threaded cannulated screw. A 39-year-old man sustained a left shoulder injury from a motorcycle accident. Radiographs showed bony Bankart lesion and CT revealed 40% defect of glenoid articular surface. Arthroscopic fixation was performed using double-threaded cannulated screw after the bony fragment was reduced by suturing the labrum at the edge with a suture anchor. Arthroscopic bony Bankart repair using double-threaded cannulated screw fixation is effective because compression force could be applied between bony fragments and the screw head is not exposed in the glenohumeral joint.