OpenMed/multicare-articles huggingface dataset:
Glomus Tumor of the Stomach: Depiction by Multidetector CT and Three-Dimensional Volume Rendering Imaging
Authors: Tarak H Patel, Karen M Horton, Ralph H Hruban, Elliot K Fishman
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Glomus tumors are uncommon tumors which can occur anywhere within the gastrointestinal tract but have been shown to occur most commonly in the gastric antrum. On CT, these tumors demonstrate hyperenhancement which may help distinguish them from other gastric masses.
Case report: Two PD-L1 positive unresectable advanced pancreatic carcinoma patients with microsatellite stability achieved R0 resection after PD-1 antibody plus chemotherapy as a successful downstaging therapy: A report of two cases
Authors: Lin Shang, Peng Li, Jie Fan, Chunning Zhao, Xiangying Niu, Qitian Bian, Zhilin Yuan, Yanlong Kong, Tingshun Zhu, Bin Xu, Jianxin Dong, Hongjun Xiang
Journal: Front Immunol (2022)
Keywords: pd-1 antibody, chemotherapy, downstaging therapy, immunotherapy, unresectable advanced pancreatic cancer
MeSH terms: Adenocarcinoma / drug therapy, Pancreatic Neoplasms / drug therapy, Case Reports, Adult, B7-H1 Antigen, Humans, Male, Microsatellite Repeats, Middle Aged, Programmed Cell Death 1 Receptor, B7-H1 Antigen, Programmed Cell Death 1 Receptor, Pancreatic Carcinoma

Background:
Nonobvious early symptoms are a prominent characteristic of pancreatic cancer, resulting in only 20% of patients having resectable tumors at the time of diagnosis. The optimal management of unresectable advanced pancreatic cancer (UAPC) remains an open research question. In this study, the tumors shrank significantly after PD-1 antibody combined with chemotherapy in two UAPC patients, and both have achieved R0 (pathologically negative margin) resection and survival to date.
Case presentation:
Case 1: A 53-year-old man was diagnosed with pancreatic adenocarcinoma (Stage III). He received six cycles of PD-1 antibody plus chemotherapy as the first-line treatment. The tumor was reduced from 11.8×8.8 cm to "0" (the pancreatic head was normal as shown by enhanced computed tomography, ECT) after preoperative neoadjuvant therapy (PNT) and the adverse effects were tolerable. The patient underwent radical surgery and achieved R0 resection. Case 2: A 43-year-old man diagnosed with pancreatic adenocarcinoma with liver metastasis (Stage IV) received three cycles of PD-1 antibody combined with chemotherapy. The tumor was reduced from 5.2×3.9 cm to 2.4×2.3 cm with no side effects. The patient also underwent radical surgery and achieved R0 resection.
Conclusion:
PD-1 antibody plus a chemotherapy regimen resulted in a surprising curative effect and safety in two patients with UAPC, which may portend an improvement in pancreatic carcinoma treatment. We may have a way for UAPC patients to obtain radical treatment and gain long-term survival. Two PD-L1 positive UAPC patients with microsatellite stability (MSS) enlighten us to have a more comprehensive understanding of the prediction of immunotherapy.
Case Report: First Case of Endophthalmitis Caused by an Emerging Pathogen: Nocardia huaxiensis
Authors: Chang Liu, Lei Zhang, Lili Liu, Ye Wang, Yanhui Cui, Tianwei Liang, Tianming Chen, Yongqiang Jiang, Gang Liu, Li Li
Journal: Front Public Health (2022)
Keywords: nanopore sequencing, antibiotic susceptibility, endophthalmitis, nocardiosis, pathogen identification
MeSH terms: Endophthalmitis / diagnosis, Endophthalmitis / drug therapy, Endophthalmitis / microbiology, Nocardia Infections / diagnosis, Nocardia Infections / drug therapy, Nocardia Infections / microbiology, Nocardia, Case Reports, Research Support, Non-U.S. Gov't, Anti-Bacterial Agents / therapeutic use, Child, Preschool, Eye, Humans, Anti-Bacterial Agents

Nocardia endophthalmitis is a relatively uncommon form of endophthalmitis seen in clinical patients. In general, Nocardia endophthalmitis tends to carry a poor prognosis. Here, we report a 3-year-old child who was admitted to the hospital due to a rupture of the left eye. The suturing and anterior chamber formation were performed immediately. Approximately, 16 days after the operation, massive whitish plump and tufted exudates gathered in the pupil area and at the bottom of the anterior chamber, and the child was diagnosed with endophthalmitis. The infection was initially considered to be caused by fungal pathogens for that the hyphae and spores were observed in the smear. However, the isolate obtained after 4 days of culturation was identified as actinomycetes using MALDI-TOF. We further classified it as Nocardia huaxiensis by next-generation sequencing (NGS) based on the MinION platform. Amikacin and sulfamethoxazole tablets were used to control the infection and the ocular inflammation subsided gradually. Intraocular lens (IOL) implantation is planned to be performed at an appropriate future time to improve his vision. Nocardia endophthalmitis is rare and usually caused by ocular trauma or surgery. In conclusion, Nocardia huaxiensis should be considered as an emerging pathogen and deserves more attention.
Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause
Authors: Dale L Bodian, Thierry Vilboux, Natalie S Hauser
Journal: Allergy Asthma Clin Immunol (2019)
Keywords: angioedema, clinical sequencing, diagnostic yield, differential diagnosis, genetic testing, hereditary angioedema, nextgen sequencing, plg, personalized medicine, plasminogen
MeSH terms: Case Reports

Background:
Hereditary angioedema (HAE) is a potentially life-threatening group of conditions that is often underdiagnosed or misdiagnosed. As HAE is typically diagnosed by detecting C1 inhibitor deficiency, there is a critical need for methods that can identify affected individuals with normal C1 inhibitor. The recent discovery of associations between PLG K330E and ANGPT1 A119S and HAE of unknown genetic cause (HAE-U), has raised the possibility that genetic evaluation could be used to diagnose HAE-U in patients with unexplained angioedema or non-confirmatory laboratory testing.
Case presentation:
We analyzed genome sequences from a generally healthy population cohort of 2820 adults and identified PLG K330E in one individual. Subsequent review of this participant's medical history revealed symptoms clinically attributed to allergy of unknown etiology but that are consistent with published descriptions of HAE patients carrying the PLG K330E variant. The participant, a 31 year old female, reported lip and tongue angioedema, without wheals, which did not respond to treatment with steroids or antihistamines.
Conclusions:
The genotype-first approach demonstrated that detection of PLG K330E in undiagnosed or misdiagnosed individuals can identify patients actually affected with HAE-U. The genetic diagnosis will facilitate selection of appropriate treatment, discontinuation of therapies ineffective for this condition, and timely diagnosis of affected family members. The results support a role of PLG K330E in the pathogenesis of HAE and suggest that genetic testing be considered as an approach to diagnose patients with unexplained angioedema.
Relapsed Symptoms in a Patient Treated for Pubic Symphysis Septic Arthritis/Adjacent Osteomyelitis: Diagnostic Challenges
Authors: Shankar Upadhyayula
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

We describe the case of a 14-year-old girl with relapsed pain following adequate treatment of pubic symphysis septic arthritis with adjacent osteomyelitis. Evaluation of her symptoms was challenging, because magnetic resonance imaging (MRI) was not helpful and repeat surgical exploration was not favored. She was treated with a combination of prolonged antimicrobial therapy and local steroid injection. This case highlights the limitations of MRI as a follow-up study for evaluating symptom relapse of acute osteomyelitis.
New Treatment Strategy for a Delayed Skin Necrosis Related to a Calcaneal Fracture
Authors: Konstantinos C Xarchas, George Kyriakopoulos, Maria Vlachou, Katerina Manta
Journal: Open Orthop J (2017)
Keywords: avulsion fracture, calcaneum, infection, prp, skin necrosis, treatment, vac
MeSH terms: Case Reports

In calcaneal avulsion fractures, skin necrosis as a result of pressure from the underlying fragment is a fairly common and serious complication. In spite of proper treatment, skin healing complication may occur. We report a calcaneal fracture case complicated by skin necrosis and managed with a novel treatment strategy including application of Platelet Rich Plasma (PRP) and Vacuum Assisted Closure (VAC). This is the first application of combined PRP and VAC treatment in a calcaneal fracture complicated by skin necrosis and was accompanied with very favorable outcomes while avoiding other more complex treatment modalities.
Acute paracoccidioidomycosis worsened by immunosuppressive therapy due to a misdiagnosis of Crohn's disease
Authors: Eduardo Mastrangelo Marinho Falcão, Manuela da Costa Medeiros, Andrea D Ávila Freitas, João Carlos de Almeida Soares, Maria Inês Fernandes Pimentel, Leonardo Pereira Quintella, Dayvison Francis Saraiva Freitas, Priscila Marques de Macedo, Antônio Carlos Francesconi do Valle
Journal: PLoS Negl Trop Dis (2023)
MeSH terms: Crohn Disease, Paracoccidioides, Paracoccidioidomycosis / microbiology, Case Reports, Abdominal Pain, Adult, Brazil / epidemiology, Diagnostic Errors, Diarrhea, Humans, Immunosuppression Therapy, Male

Paracoccidioidomycosis (PCM) is a systemic mycosis endemic in Latin America, mostly in Brazil. The involvement of the gastrointestinal tract is uncommon and usually associated with the acute form. Recently, a cluster of acute PCM cases has been described in Rio de Janeiro, Brazil. We report a 42-year-old male, resident of Rio de Janeiro, presenting chronic diarrhea and abdominal pain in the past 3 years, previously diagnosed as Chron´s disease. When immunosuppressive therapy was prescribed, the patient evolved with worsening of the previous symptoms in addition to odynophagia, 20 kg-weight loss, disseminated skin lesions, diffuse lymphadenopathy and adrenal insufficiency. Histopathological and mycological examination of a skin lesion were compatible with PCM. Itraconazole was prescribed in high doses (400 mg/day). After seven months of treatment, the patient presented with acute abdominal pain which led to an emergent appendectomy, revealing the presence of the fungus. After 24 months, the patient reached clinical cure and recovered from adrenal insufficiency. We emphasize the importance of PCM as a differential diagnosis in patients with chronic diarrhea. The risk of fungal infections should be considered prior to initiating immunosupressive therapies, particularly in endemic areas.
Intramural Hematoma of the Esophagus Complicating Severe Preeclampsia
Authors: Simone Garzon, Giovanni Zanconato, Nicoletta Zatti, Giuseppe Chiarioni, Massimo Franchi
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Intramural hematoma of the esophagus is a rare injury causing esophageal mucosal dissection. Forceful vomiting and coagulopathy are common underlying causes in the elderly population taking antiplatelets or anticoagulation agents. Acute retrosternal pain followed by hematemesis and dysphagia differentiates the hematoma from other cardiac or thoracic emergencies, including acute myocardial infarction or aortic dissection. Direct inspection by endoscopy is useful, but chest computed tomography best assesses the degree of obliteration of the lumen and excludes other differential diagnoses. Intramural hematoma of the esophagus is generally benign and most patients recover fully with conservative treatment. Bleeding can be managed medically unless in hemodynamically unstable patients, for whom surgical or angiographic treatment may be attempted; only rarely esophageal obstruction requires endoscopic decompression. We report an unusual case of esophageal hematoma, presenting in a young preeclamptic woman after surgical delivery of a preterm twin pregnancy, with a favorable outcome following medical management.
Understanding online behavior towards community water user participation: A perspective of a developing country
Authors: Narongsak Sukma, Adisorn Leelasantitham
Journal: PLoS One (2022)
MeSH terms: Social Support, Water, Research Support, Non-U.S. Gov't, Communication, Community Participation, Developing Countries, Humans, Social Networking, Water

The social network is a network of virtual relationships that can facilitate the development of a new society in which everyone can use online communication effectively. This article investigates and identifies the fundamental influences on the social network system, as well as the online behavior of the community users. This study was designed by any social network to help improve efficiency and offer people with services that match the needs of their communities. Furthermore, it increases participation in the equitable distribution of social benefits. This study investigates the critical factors that impact a community's view of community water user participation. The researcher sent a questionnaire on a five-point Likert scale to 1,000 community water customers and collected 627 valid replies. Data from 14 villages were sampled using a simple random sampling strategy to acquire the data. Subsequently, descriptive statistics are used to describe the data (frequency distributions, percentages, averages, medians, and standard deviation). Furthermore, PLS-SEM was used to examine the relationships between factors and to launch the conceptual model using PLS route modeling. This study reveals that digital technologies are crucial to increasing the expectations and happiness of the community through social networks. Multiple causes contribute to its expansion. In addition, this research provides an outstanding case study technique based on TAM and ECT to assess people's social networking and community participation habits. Additionally, community water providers participate in social networks by certifying that their expectations are met.
Pitfalls in the management of isolated pulmonary Takayasu's arteritis after surgery: a case report of an experience during 34 months after a pulmonary artery graft replacement
Authors: Kishu Fujita, Shu Kasama, Masahiko Kurabayashi
Journal: J Cardiothorac Surg (2016)
MeSH terms: Anti-Inflammatory Agents / therapeutic use, Arterial Occlusive Diseases / surgery, Blood Vessel Prosthesis Implantation, Graft Occlusion, Vascular / drug therapy, Prednisolone / therapeutic use, Pulmonary Artery / surgery, Takayasu Arteritis / complications, Case Reports, Arterial Occlusive Diseases / etiology, Graft Occlusion, Vascular / diagnosis, Humans, Male, Middle Aged, Takayasu Arteritis / surgery, Anti-Inflammatory Agents, Prednisolone

Background:
Several controversial matters still remain unresolved in the management of Takayasu's arteritis, especially after vascular intervention. First, a definitive diagnostic tool has not been established to assess disease activity correctly. Second, the optimal medical regimen has not been established to prevent restenosis of the vascular lesion. Surgical treatments have been rarely performed to relieve critical vascular stenosis in isolated pulmonary Takayasu's arteritis, but their postoperative courses on long-term follow-up periods have not been sufficiently reported.
Case presentation:
A 48-year-old man underwent a successful graft replacement for severe right main pulmonary artery stenosis due to isolated pulmonary Takayasu's arteritis. The patient had remained asymptomatic with no clinical inflammatory signs under adequate anticoagulation therapy since then. However, stenosis of the prosthetic graft accompanied by marked pulmonary hypertension was detected 18 months after surgery. Anti-inflammatory treatment with only 5 mg/day of oral prednisolone was then implemented, and the stenosis remained unchanged with the patient being stable for the next 16 months.
Conclusions:
This is the first published case report that describes the actual clinical course with a long-term follow-up period after surgery for isolated pulmonary Takayasu's arteritis, including images of the stenosed prosthetic graft. This case suggests that patients should be followed with multiple complementary diagnostic techniques on the assumption that restenosis is highly possible and unpredictable even after surgery. Besides, sufficient anti-inflammatory treatment should be applied as soon as possible after surgery no matter how inactive the disease appears to be, although its optimal regimen especially during the inactive inflammatory phase needs to be further established.
Conventional Cementless Total Hip Arthroplasty for Hip Osteoarthritis after Distal Trochanteric Transfer: A Report of Two Cases
Authors: Hirohito Hirata, Motoki Sonohata, Akira Hashimoto, Sakumo Kii, Takema Nakashima, Masaya Ueno, Shuichi Eto, Shunsuke Kawano, Masaaki Mawatari
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Distal trochanteric transfer (DTT) has been widely performed to treat developmental dysplasia of the hip or Perthes disease. Total hip arthroplasty (THA) following DTT in patients with hip osteoarthritis is one of the most challenging procedures for hip surgeons, because great care must be taken regarding anatomical abnormalities of the greater trochanter and the soft tissue attached to the greater trochanter. To the best of our knowledge, there are no reports on THA after DTT. We herein report two cases of patients who underwent THA post DTT using cementless components. After THA, both patients developed abduction temporary contraction because of leg length extension and gluteus medius hypertension. However, in both cases, the contraction was reversible within two months and the final clinical result was good. Therefore, THA can be considered an effective and safe choice for treating osteoarthritis after DTT.
Coexisting BRAF-Mutated Langerhans Cell Histiocytosis and Primary Myelofibrosis with Shared JAK2 Mutation
Authors: Johanne Marie Holst, Marie Beck Enemark, Trine Lindhardt Plesner, Martin Bjerregaard Pedersen, Maja Ludvigsen, Francesco d'Amore
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Langerhans cell histiocytosis (LCH) is an infrequent disease, characterized by oligoclonal proliferation of immature myeloid-derived cells. However, the exact pathogenesis remains unknown. In rare cases, LCH is present in patients with concomitant myeloid proliferative neoplasms. Here, we describe a 69-year-old male, who presented with a maculopapular rash covering truncus, face, and scalp. A cutaneous ulcerating lesion on the right cheek led to a biopsy showing LCH. Lesional cells were BRAF V600E and JAK2 V617F mutated. A bone marrow aspirate showed no infiltration of Langerhans cells, but alterations consistent with primary myelofibrosis (PMF) and a polymerase chain reaction test were positive for JAK2 V617F. Our case highlights an uncommon condition of two hematological malignancies present in the same patient. The identification of the BRAF V600E mutation supports previous findings of this mutation in LCH. Interestingly, a JAK2 V617F mutation was found in both LCH and PMF cells, indicating a possible clonal relationship between the two malignancies.
Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)
Authors: Shao-Jia Mao, Yu-Mei Zu, Yang-Li Dai, Chao-Chun Zou
Journal: Front Pediatr (2022)
Keywords: gnptab, n-acetylglucosamine-1-phosphotransferase, genetic testing, mucolipidosis, variant site
MeSH terms: Case Reports

Objective:
This study aimed to improve the cognition of mucolipidosis (ML) II and III alpha/beta by analyzing the clinical manifestations of two patients.
Methods:
The clinical, biochemical, and molecular data of two clinical cases associated with ML II and III alpha/beta were analyzed and compared with other case reports of ML II and III alpha/beta.
Results:
The first patient was a 14-month-old girl who was hospitalized because of abnormal postnatal coarse facial features. The child had no abnormal birth history, but developed multiple abnormalities such as psychomotor retardation, abnormal facial features, bilateral limb muscle hypotonia, and genital abnormalities. The X-ray of the spine revealed multiple bone malformations. Brain magnetic resonance imaging (MRI) showed delayed myelination. Genetic testing showed the presence of two compound heterozygous pathogenic variants (c.1364C>T and c.1284+1G>T) in the GNPTAB gene. The second patient was an 18-month-old boy who was hospitalized for recurrent respiratory tract infections. The patient was a high-risk preterm infant with postnatal psychomotor retardation, language development retardation, intellectual disability, and coarse facial features. X-ray showed multiple bone malformations. Craniocerebral ultrasound showed bilateral ventricle widening. Genetic testing showed the presence of two compound heterozygous pathogenic variants (c.1284+1G>T and c.483delT) in the same gene.
Conclusions:
ML II and III alpha/beta are rare autosomal-recessive lysosomal storage diseases that are attributed to GNPTAB variants that cause N-acetylglucosamine-1-phosphotransferase deficiency, finally leading to multiple clinical signs and symptoms. A proper ML II and/or III alpha/beta diagnosis requires a combined analysis of a patient's clinical manifestations, imaging examination, enzymatic analysis, and genetic testing results. Ultimately, genetic counseling is essential for this disease.
Novel Presentation of Terminal Ileitis Associated with Secukinumab Therapy
Authors: Aciel Ahmed Shaheen, Ismail Hader, Zakaria Aqel
Journal: Case Rep Gastrointest Med (2021)
MeSH terms: Case Reports

Inflammatory bowel disease (IBD) and psoriasis are chronic inflammatory immune-mediated diseases. The interleukin-23- (IL23-) T helper (Th)17 pathway has been implicated in their pathogenesis, with multiple biologic therapies targeting this pathway. IL-17, the main proinflammatory cytokine produced by (TH)17, has been targeted by antibodies and IL-17 receptor blockers with favorable outcomes in treating psoriasis and psoriatic arthritis. However, their role in IBD is unpredictable as studies reported worsening of IBD with agents targeting IL-17 and rare case reports with new-onset IBD. We present a case of Crohn's-like severe terminal ileitis and worsening diverticulitis complicated by intestinal perforation requiring total parenteral nutrition shortly after being started on secukinumab.