OpenMed/multicare-articles huggingface dataset:
Case Report: A severe case of immunosuppressant-refractory immune checkpoint inhibitor-mediated colitis rescued by tofacitinib
Authors: Mark W D Sweep, Martijn J H Tjan, Mark A J Gorris, Kalijn F Bol, Harm Westdorp
Journal: Front Immunol (2023)
Keywords: adverse event, autoimmunity, cancer, case report, colitis, immune checkpoint inhibitor, tofacitinib
MeSH terms: Colitis / chemically induced, Colitis / drug therapy, Immunosuppressive Agents, Case Reports, Research Support, Non-U.S. Gov't, B7-H1 Antigen, Humans, Immune Checkpoint Inhibitors, Ipilimumab / adverse effects, Male, Nivolumab, Immunosuppressive Agents, Immune Checkpoint Inhibitors, tofacitinib, Ipilimumab, B7-H1 Antigen, Nivolumab

Immune checkpoint inhibitor therapy for cancer treatment can give rise to a variety of adverse events. Here we report a male patient with metastatic melanoma who experienced life-threatening colitis and duodenitis following treatment with ipilimumab and nivolumab. The patient did not respond to the first three lines of immunosuppressive therapy (corticosteroids, infliximab, and vedolizumab), but recovered well after administration of tofacitinib, a JAK inhibitor. Cellular and transcriptional data on colon and duodenum biopsies shows significant inflammation in the tissue, characterized by a large number of CD8 T cells and high expression of PD-L1. While cellular numbers do decrease during three lines of immunosuppressive therapy, CD8 T cells remain relatively high in the epithelium, along with PD-L1 expression in the involved tissue and expression of colitis-associated genes, indicating an ongoing colitis at that moment. Despite all immunosuppressive treatments, the patient has an ongoing tumor response with no evidence of disease. Tofacitinib might be a good candidate to consider more often for ipilimumab/nivolumab-induced colitis.
Rapidly Exacerbating Autoimmune Hemolytic Anemia Together With Marked Cytokine Storm Triggered by Pneumonia Infection: A Case Report
Authors: Yuichiro Iwamoto, Takatoshi Anno, Katsumasa Koyama, Ryo Shirai, Hideaki Kaneto, Koichi Tomoda
Journal: Front Immunol (2020)
Keywords: th2-dominant conditions, autoimmune hemolytic anemia, cytokine storm, hypercytokinemia, pneumonia
MeSH terms: Anemia, Hemolytic, Autoimmune / etiology, Cytokine Release Syndrome / etiology, Pneumonia / complications, Case Reports, Aged, 80 and over, Anemia, Hemolytic, Autoimmune / blood, Biomarkers / blood, Cytokine Release Syndrome / blood, Cytokines / blood, Fatal Outcome, Humans, Inflammation, Male, Pneumonia / blood, Biomarkers, Cytokines

Background: Autoimmune hemolytic anemia (AIHA) is caused by hemolysis induced by the reaction of autoantibodies with red blood cells. AIHA is usually classified as either warm antibody or cold antibody-mediated AIHA. In addition, AIHA caused by infection is classified as secondary AIHA. It is well-known that alteration of various cytokine levels is closely associated with a variety of disorders such as infectious diseases. In addition, it is known that IL-10/ IL-12 imbalance is an indicator of Th2-dominat conditions and a progressive marker of AIHA. Case presentation: A 82-year-old Japanese man was brought to the emergency room with pneumonia and heart failure. After admission, we started antibiotics therapy. Next day, he had symptoms of jaundice and his total bilirubin level was elevated. Five days after admission, his inflammation markers were further elevated and he had hemolytic anemia. We finally diagnosed him as severe warm-type AIHA associated with pneumoniae infection. Seven days after admission, his severe leucocytosis was further aggravated, and then he suddenly had cardiac arrest and respiratory failure, and finally died of multiple organ failure. Unfortunately, we failed to rescue him from severe AIHA induced by pneumonia infection. Conclusions: Herein, we report a subject with pneumonia-triggered warm-type AIHA together with marked cytokine storm. IL-18 levels were markedly elevated without elevation of IL-12 levels. In addition, IL-10/IL-12 imbalance was observed. These data suggest that once marked cytokine storm is induced, infection-induced AIHA is exacerbated very rapidly.
Kingella kingae Keratitis in a Child with Underlying Vernal Keratoconjunctivitis
Authors: Salim Nurul-Laila, Khai-Siang Chai, Ahmad Tajudin Liza-Sharmini, Ismail Shatriah
Journal: Case Rep Ophthalmol Med (2017)
MeSH terms: Case Reports

Kingella kingae had rarely been reported as a causative organism for corneal ulcer and had not been described before in vernal keratoconjunctivitis (VKC). Generally regarded as commensals of respiratory tract particularly in young children, it had however been isolated from the corneal ulcer scraping of both adult and children. We report a case of bacterial ulcer with isolation of Kingella kingae from the corneal scraping in a young child with underlying VKC.
Simultaneous Noncentered Photoactivated Chromophore for Keratitis-Corneal Collagen Cross-Linking and Penetrating Keratoplasty for Treatment of Severe Marginal Fusarium spp. Keratitis: A Description of a New Surgical Technique
Authors: Kepa Balparda, Juan Carlos Mejia-Turizo, Tatiana Herrera-Chalarca
Journal: Case Rep Ophthalmol Med (2017)
MeSH terms: Case Reports

The purpose of this article is to describe the use of simultaneous noncentered photoactivated chromophore for keratitis-corneal collagen cross-linking (PACK-CXL) combined with penetrating keratoplasty in the treatment of a severe marginal Fusarium spp. keratitis case with imminent corneal perforation. It is a retrospective case report study; it was performed by collecting clinical data, images, video, and postoperative evaluations. The clinical control of the infection was accomplished, despite difficulties in obtaining antifungal medications due to the patient's extremely poor socioeconomic status and essentially nonexistent health insurance. We can conclude that combining simultaneous decentered PACK-CXL with centered penetrating keratoplasty appears to be a safe and effective way of treating patients with fungal marginal keratitis with corneal perforation, in which regular penetrating keratoplasty alone would leave fungal elements in the receptor corneal tissue, which would predispose to infection of the graft.
Torsion of Testis in an Infant with Unilateral UDT
Authors: Mohammad Kazem Moslemi, Mehdi Abedinzadeh, Shabir Al-Mousawi
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Torsion of an undescended testis is uncommon. Torsion of a cryptorchid testicle presents a nonspecific symptomatology. Clinical suspicion indicates emergent surgical exploration, irrespective of Doppler ultrasound with its inherent false negative results. Management of the contralateral testis is controversial. We emphasize the need of a complete physical examination of the child who goes to the emergency room with nonspecific symptoms of abdominal pain and ipsilateral empty hemiscrotum to rule out torsion of a cryptorchid testicle. Herein, we report a one-year-old infant with missed torsion of undescended left testis.
Multiple ectopic recurrent germ cell tumors after total pineal mature teratoma removal: A case report and literature review
Authors: Lei Han, Ye Song, Luxiong Fang, Songtao Qi
Journal: Front Oncol (2023)
Keywords: case report, intracranial germ cell tumor, mature teratoma, pathogenesis, therapeutic strategy, tumor recurrence
MeSH terms: Case Reports

Intracranial germ cell tumors (GCTs) are highly heterogeneous and rare, and the recurrence of mature teratomas is uncommon. There is limited data on the systematic management of multiple recurrent tumors following total teratoma removal. Herein, we report repeated relapsing GCTs with different histological subtypes and locations after en bloc total resection of a pineal mature teratoma. A 14-year-old patient underwent total resection of a tumor in the pineal region and histopathology revealed a mature cystic teratoma. Four years later, the patient experienced a recurrence of the suprasellar tumor, which occurred several times over the next eight years. The tumor was successfully eliminated after multiple surgeries, radiotherapy and chemotherapy. By the time the paper was submitted, the patient had not had a recurrence of the tumor and was in the good physical condition and leading a normal life. Based on this case, we discussed the pathogenesis of recurrent mature teratoma and the therapeutic strategy of multiple recurrent GCTs.
Penetrating abdominal injury and peritonitis: A rare case of birth Injury
Authors: Shreeprasad P Patankar, Shilpa S Patankar
Journal: J Indian Assoc Pediatr Surg (2008)
Keywords: birth injury, bowel trauma, penetrating abdominal trauma
MeSH terms: Case Reports

The incidence of birth injuries has decreased considerably because of the identification of risk factors at an earlier stage and taking the decision for caesarian section (LSCS) at proper time. Fractures, nerve palsies and central nervous system injuries comprise the majority of "birth injuries." In this study, we report a newborn that had a birth injury during LSCS. The baby sustained a penetrating abdominal injury by the knife of the surgeon, while performing LSCS. The bowel was injured at two sites, proximal jejunum and descending colon. The baby developed meconeum spillage and peritonitis. Exploratory laprotomy was done and the injuries were identified. The injured portions were resected and bowel continuity was reestablished. The baby had an uneventful recovery.
A Blind Spot in the Diagnostic Field: The Challenging Diagnosis of Tumefactive Multiple Sclerosis
Authors: Ramy Mando, Emile Muallem, Shaiva G Meka, Ramona Berghea
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Tumefactive Multiple Sclerosis (TMS) is a rare variant with 1 per 1000 cases of MS and 3 per million cases per year. TMS can mimic clinical and radiological features of a neoplasm, infarction, or abscess and therefore can be diagnostically challenging for clinicians. We present a clinical scenario of a patient presenting with left homonymous hemianopia with atypical radiological features initially thought to be more consistent with neoplasm or infraction. Ultimately, biopsy was done which led to the diagnosis of tumefactive multiple sclerosis.
Novel Psychological Formulation and Treatment of "Tic Attacks" in Tourette Syndrome
Authors: Sally Robinson, Tammy Hedderly
Journal: Front Pediatr (2016)
Keywords: functional neurological symptoms, non-epileptic seizures, psychogenic seizures, tic disorders, ticcing fits
MeSH terms: Case Reports

One important, but underreported, phenomenon in Tourette syndrome (TS) is the occurrence of "tic attacks." These episodes have been described at conferences as sudden bouts of tics and/or functional tic-like movements, lasting from 15 min to several hours. They have also been described by patients in online TS communities. To date, there are no reports of tic attacks in the literature. The aim of this article is to stimulate discussion and inform clinical practices by describing the clinical presentation of 12 children (mean age 11 years and 3 months; SD = 2 years and 4 months) with TS and tic attacks, with a detailed case report for one case (13-year-old male). These children commonly present acutely to casualty departments and undergo unnecessary medical investigations. Interestingly, all children reported comorbid anxiety, with worries about the tics themselves and an increased internal focus of attention on tics once the attacks had started. In keeping with other children, the index case reported a strong internal focus of attention, with a relationship between physiological sensations/tic urges, worries about having tic attacks, and behavioral responses (e.g., body scanning, situational avoidance, and other responses). In our experience, the attacks reduce with psychological therapy, for example, the index case attended 13 sessions of therapy that included metacognitive and attention training techniques, as well as cognitive-behavioral strategies. Following treatment, an improvement was seen across a range of measures assessing tics, mood, anxiety, and quality of life. Thus, psychological techniques used to treat anxiety disorders are effective at supporting a reduction in tic attacks through modifying attention, worry processes, and negative beliefs. It is hypothesized that an attentional style of threat monitoring, difficulties tolerating internal sensory urges, cognitive misattributions, and maladaptive coping strategies contribute to the onset and maintenance of tic attacks. These cases provide support for the view that tic attacks are triggered and maintained by psychological factors, thereby challenging the view that tic attacks merely reflect extended bouts of tics. As such, we propose that the movements seen in tic attacks may resemble a combination of tics and functional neurological movements, with tic attacks reflecting episodes of panic and anxiety for individuals with TS.
Abdominal trauma: never underestimate it
Authors: Aakash N Bodhit, Anjali Bhagra, Latha Ganti Stead
Journal: Case Rep Emerg Med (2011)
MeSH terms: Case Reports

Introduction. We present a case of a sports injury. The initial presentation and clinical examination belied serious intra-abdominal injuries. Case Presentation. A 16-year-old male patient came to emergency department after a sports-related blunt abdominal injury. Though on clinical examination the injury did not seem to be serious, FAST revealed an obscured splenorenal window. The CT scan revealed a large left renal laceration and a splenic laceration that were managed with Cook coil embolization. Patient remained tachycardic though and had to undergo splenectomy, left nephrectomy, and a repair of left diaphragmatic rent. Patient had no complication and had normal renal function at 6-month followup. Conclusion. The case report indicates that management of blunt intra-abdominal injury is complicated and there is a role for minimally invasive procedures in management of certain patients. A great deal of caution is required in monitoring these patients, and surgical intervention is inevitable in deteriorating patients.
Co-occurrence of Dermatomyositis and Polycythemia Unveiling Rare de Novo Neuroendocrine Prostate Tumor
Authors: Charalampos Papagoras, Stella Arelaki, Ioannis Botis, Ioannis Chrysafis, Stavros Giannopoulos, Panagiotis Skendros
Journal: Front Oncol (2018)
Keywords: dermatomyositis, erythrocytosis, neuroendocrine neoplasia, polycythemia, prostate cancer
MeSH terms: Case Reports

We present a case of dermatomyositis together with polycythemia as initial manifestations of a particularly rare type of prostate cancer. A 69-year-old man was hospitalized for facial erythema and symptoms of fatigue. Physical evaluation, serum creatinine phosphokinase and electromyography were consistent with dermatomyositis. In parallel, the hemoglobin level was 18.5 g/dL, serum erythropoietin levels were low normal and no JAK2 mutation was found. Given a strong suspicion of a paraneoplastic syndrome the patient underwent abdominal computed tomography revealing a prostate mass, enlarged iliac lymph nodes and a fracture of L1 due to metastasis. The unusual paraneoplastic manifestations prompted a more thorough immunohistologic examination of the needle biopsy specimen taken from the prostate, which led to the diagnosis of large cell neuroendocrine prostate carcinoma. It is a most rare type of prostate cancer, carrying a poor prognosis. To our knowledge, this is the first case in the literature associating a neuroendocrine cancer of the prostate with dermatomyositis.
Interpreting flow cytometry with caution: A case report of follicular lymphoma in leukemic phase misdiagnosed as chronic lymphocytic leukemia
Authors: Yuan Ren, Congwei Jia, Miao Chen, Wei Wang, Wei Zhang
Journal: Front Oncol (2023)
Keywords: case report, chronic lymphocytic leukemia, follicular lymphoma, immunophenotyping, misdiagnosis
MeSH terms: Case Reports

Chronic lymphocytic leukemia (CLL) is a subtype of mature B-cell proliferative neoplasms characterized by abnormally increasing lymphocytes in circulation. The diagnosis of CLL is usually established on peripheral blood analysis and typical flow cytometric immunophenotype rather than biopsy. In particular, the high RMH (Royal Marsden Hospital Scoring System for CLL) score of immunophenotype has a highly sensitive weight for diagnostic value. However, immunophenotyping by flow cytometry may also be misleading in specific clinical situations. Here, we report a case on admission with lymphadenopathy and lymphocytosis, misdiagnosed as chronic lymphocytic leukemia by flow cytometry initially but finally confirmed as follicular lymphoma (FL) in the leukemic phase via lymph node biopsy. Since FL in the leukemic phase is uncommon at the time of diagnosis and indicates a poorer prognosis of FL, such misdiagnosis is worthy of attention. It is also thought-provoking that there had been conflicts between immunophenotype of bone marrow and immunohistochemistry of lymph node. Our case report aims to remind clinicians' awareness that the immunophenotyping by flow cytometric analysis needs to be interpreted with caution especially when the results cannot account for all of clinical features, and it is significant to make the right decision about when to conduct further examination including lymph node biopsy for avoiding misdiagnosis.
Oral Bilateral Collagenous Fibroma: A previously unreported case and literature review
Authors: Ana-Carolina Vasconcelos, Ana-Paula Gomes, Sandra Tarquinio, Eduardo Abduch-Rodrigues, Ricardo Mesquita, Karine Silva
Journal: J Clin Exp Dent (2018)
MeSH terms: Case Reports

Collagenous fibroma, also known as desmoplastic fibroblastoma, is a rare benign slow growing tumor particularly uncommon in the oral cavity. The aim of this study was to analyze the clinical and histopathological features of an oral collagenous fibroma as well as to compare this data with those reported in an English-literature review. The thirteenth case of collagenous fibroma in the oral cavity and the first to present clinically as a bilateral mass was described. A 48-years-old female patient was referred to a School of Dentistry, complaining about an asymptomatic swelling on the hard palate, lasting around ten years. The intraoral examination revealed two well-defined mass, bilaterally in the hard palate. An excisional biopsy was performed. Microscopically, the connective tissue consisted of dense collagen bundles in which were seen scarcely distributed spindle-shaped to stellate fibroblastic cells. Blood vessels were few, as well as inflammatory cells. Immunohistochemical staining was positive for vimentin, α-smooth muscle actin and factor XIIIa and negative for S-100, CD68, CD34, HHF35, desmin and AE1/AE3. The patient remains disease-free 24 months after excision. In conclusion, oral collagenous fibroma should be included in the differential diagnosis of bilateral sessile nodules in the oral cavity. Key words:Connective tissue, mouth diseases, mouth neoplasms, oral diagnosis, oral pathology.
Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing
Authors: Qianqian Li, Zhanni Chen, Hui Xiong, Ranran Li, Chenguang Yu, Jingjing Meng, Panlai Shi, Xiangdong Kong
Journal: Front Genet (2021)
Keywords: duchenne muscular dystrophy, breakpoints, long-read whole-genome sequencing, partial exonic deletion, whole exome sequencing

Duchenne muscular dystrophy (DMD), one of the most common progressive and severely disabling neuromuscular diseases in children, can be largely attributed to the loss of function of the DMD gene on chromosome Xp21.2-p21.1. This paper describes the case of a 10-year-old boy diagnosed with DMD. Whole exome sequencing confirmed the hypothesized large partial exonic deletion of c.7310-11543_7359del (chrX:g.31792260_31803852del) spanning exon 51 and intron 50 in DMD. This large deletion was verified to be de novo by PCR, and the two breakpoints were further confirmed by Sanger sequencing and long-read whole-genome sequencing. Notably, this partial exonic deletion was the only complex variation in the deep intron regions or intron-exon junction regions in DMD. In addition, the case study demonstrates the clinical importance of using multiple molecular genetic testing methods for the diagnosis of rare diseases.
Acute Myeloid Leukemia with Basophilic Differentiation Transformed from Myelodysplastic Syndrome
Authors: Yasuhiro Tanaka, Atsushi Tanaka, Akiko Hashimoto, Kumiko Hayashi, Isaku Shinzato
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Myelodysplastic syndrome (MDS) terminally transforms to acute myeloid leukemia (AML) or bone marrow failure syndrome, but acute myeloid leukemia with basophilic differentiation has been rarely reported. An 81-year-old man was referred to our department for further examination of intermittent fever and normocytic anemia during immunosuppressive treatment. Chromosomal analysis showed additional abnormalities involving chromosome 7. He was diagnosed as having MDS. At the time of diagnosis, basophils had not proliferated in the bone marrow. However, his anemia and thrombocytopenia rapidly worsened with the appearance of peripheral basophilia three months later. He was diagnosed as having AML with basophilic differentiation transformed from MDS. At that time, monosomy 7 was detected by chromosomal analysis. We found that basophils can be confirmed on the basis of the positivity for CD203c and CD294 by flow cytometric analysis. We also found by cytogenetic analysis that basophils were derived from myeloblasts. He refused any chemotherapy and became transfusion-dependent. He died nine months after the transformation. We should keep in mind that MDS could transform to AML with basophilic differentiation when peripheral basophilia in addition to myeloblasts develops in patients with MDS.
Adrenal gland metastasis is an unusual manifestation of endometrial cancer
Authors: Syeda Sadia Zaidi, Vipul T Lakhani, Oluwole Fadare, Dineo Khabele
Journal: Case Rep Surg (2013)

This case report describes a woman treated for stage 1 B grade 3 endometrial adenocarcinoma with surgery and adjuvant radiation therapy who presented 6 months later with pain and symptoms of adrenal insufficiency. A large right adrenal mass revealed adenocarcinoma consistent with the endometrial primary.
Papillary endolymphatic sac tumor: a case report
Authors: S Arava, R M Soumya, S Chitragar, R Safaya, S H Chandrashekhar, Alok Thakar
Journal: Case Rep Otolaryngol (2012)

Glandular tumors involving the middle ear are rare and distinguishing between adenoma and adenocarcinoma remains difficult. A distinct subclass of these tumors demonstrates microscopic papillary architecture and has a propensity to erode the petrous bone and extend intracranially. The term "aggressive papillary middle ear tumor" has recently been proposed to describe this more invasive type of middle ear tumor. These tumors cause symptoms even when microscopic in size. Although histologically benign, they have been locally destructive with frequent intracranial extension and patients may die of uncontrolled local disease. These tumors do not metastasize but there is single case report of drop metastasis to the spine in the literature. Hence this tumor must be distinguished from other benign tumors of the middle ear. These rare neoplasms constitute a distinct pathological entity and deserve wider recognition.