OpenMed/multicare-articles huggingface dataset:
Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old man
Authors: Cuimin Chen, Junliang Lu, Huanwen Wu
Journal: Front Oncol (2022)
Keywords: gli1, gli2, ptch1
MeSH terms: Case Reports

Gastroblastoma is a rare biphasic tumor of the stomach that generally presents in young patients. MALAT1-GLI1 gene fusion was considered to be the characteristic molecular alteration of this tumor in previous reports. Herein, we described a 58-year-old man with a mass mainly located in the submucosa of the stomach. Microscopic examination showed a biphasic morphology with the same immunohistochemical phenotype as gastroblastoma. Interestingly, a novel PTCH1::GLI2 fusion rather than MALAT1-GLI1 fusion was detected in the tumor by RNA-based next generation sequencing (NGS). This was the first report that demonstrated a novel PTCH1::GLI2 gene fusion in gastroblastoma, and thus expanded the molecular spectrum of this tumor. The underlying pathogenesis merits further investigation.
Immune thrombocytopenia relapse post covid-19 vaccine in young male patient
Authors: Hana Qasim, Elrazi Ali, Mohamad A Yassin
Journal: IDCases (2021)
Keywords: itp, pfizer vaccine, relapse, sars-cov-2
MeSH terms: Case Reports

Immune thrombocytopenic purpura (ITP) is a blood disorder in which antibodies coating platelets cause platelets destruction in the spleen with resultant low platelets count and an increased tendency for bleeding. Coronavirus disease 2019 (COVID-19) is an illness caused by SARS-COV2; it was first identified in December/2019; though it mainly affects the respiratory system, multisystemic complications are identified. Several ITP cases post mRNA SARS-CoV-2 vaccines were reported, and different pathophysiology theories about the underlying pathophysiology were discussed, but only a few ITP relapse cases have been reported so far. We present a 28-year-old Asian male, a known patient of ITP and in partial remission for eighteen months, who presented to the emergency department with ITP relapse (platelets count of 1 × 10^3 /µL), four days after receiving the second dose of Pfizer SARS-CoV-2 vaccine, which required treatment with intravenous immunoglobulins and dexamethasone. We further discuss the preferred approach in ITP patients who are willing to receive the COVID-19 vaccine.
Malignancy-Induced Hypercalcemia-Diagnostic Challenges
Authors: Claire Hoyoux, Jacques Lombet, Corina Ramona Nicolescu
Journal: Front Pediatr (2017)
Keywords: bone lymphoma, hypercalcemia, malignancy, parathyroid hormone, parathyroid hormone-related peptide
MeSH terms: Case Reports

Hypercalcemia in children is a rare metabolic finding. The clinical picture is usually non-specific, and the etiology includes several entities (metabolic, nutritional, drug-induced, inflammatory, cancer-associated, or genetic) depending on the age at presentation, but severe hypercalcemia is associated mainly with malignancy in childhood and sepsis in neonates. Severe parathyroid hormone (PTH)-suppressed hypercalcemia is challenging and requires multidisciplinary diagnostic and therapeutic approaches to (i) confirm or rule out a malignant cause, (ii) treat it and its potentially dangerous complications. We report a case of severe and complicated PTH-independent hypercalcemia in a symptomatic 3-year-old boy. His age, severity of hypercalcemia and its complicated course, and the first imaging reports were suggestive of malignancy. The first bone and kidney biopsies and bone marrow aspiration were normal. The definitive diagnosis was a malignant-induced hypercalcemia, and we needed 4 weeks to assess other differential diagnoses and to confirm, on histopathological and immunochemical base, the malignant origin of hypercalcemia. Using this case as an illustrative example, we suggest a diagnostic approach that underlines the importance of repeated histology if the clinical suspicion is malignancy-induced hypercalcemia. Effective treatment is required acutely to restore calcium levels and to avoid complications.
Histomorphological transformation from non-small cell lung carcinoma to small cell lung carcinoma after targeted therapy or immunotherapy: A report of two cases
Authors: Hao Liu, Li-Hong Chen, Zhi-Hui Zhang, Ning Wang, Si-Hui Zhuang, Hao Chen, Jin Du, Li-Juan Pang, Yan Qi
Journal: Front Oncol (2022)
Keywords: egfr-tki, pd-1 inhibitors, histomorphological transformation, immunotherapy, lung cancer, targeted therapy
MeSH terms: Case Reports

Molecular targeting and immunotherapy provide durable responses for advanced lung cancer clinical therapy in many patients. However, the mechanisms of occurrence of progressive disease and resistance to targeted therapy and immunotherapy have not been elucidated. Herein, we report two cases of small cell transformation of non-small cell lung cancer (NSCLC) after targeted therapy or immunotherapy. The first case was a 63-year-old female patient presenting with cough and expectoration. Left lung invasive adenocarcinoma was diagnosed after left lung tumor biopsy. After epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) targeted therapy for almost 2 years, disease progression and symptom aggravation were observed. Pathological and immunohistochemical staining results after biopsy revealed small cell lung cancer (SCLC). The second case was a 75-year-old male patient diagnosed with stage IV squamous cell carcinoma of the lung, who received carboplatin/paclitaxel adjuvant chemotherapy and pembrolizumab treatment with partial response. Disease progression and metastasis occurred within 15 cycles of immunotherapy. Computed tomography revealed a lower left lung tumor. Cytological examination of lung lavage fluid and biopsy under thoracoscope revealed SCLC. In conclusion, histological transformation to SCLC is a potential mechanism of NSCLC resistance to targeted therapy or immunotherapy. During treatment, clinicians should monitor serum tumor markers or genome sequencing, particularly in patients with disease progression, as this may be beneficial for early detection of SCLC transformation. Repeated biopsy can be performed if necessary, and the therapeutic regimen can be adjusted in a timely manner according to the results of molecular pathological tests for personalization and whole-process management.
Enhanced IL-34 expression in Nivolumab-resistant metastatic melanoma
Authors: Nanumi Han, Muhammad Baghdadi, Kozo Ishikawa, Hiraku Endo, Takuto Kobayashi, Haruka Wada, Keisuke Imafuku, Hiroo Hata, Ken-Ichiro Seino
Journal: Inflamm Regen (2018)
Keywords: immunotherapy, interleukin-34, melanoma, tumor-associated macrophage
MeSH terms: Case Reports

Background:
Immunotherapies that target immune-checkpoint molecules such PD-1 have helped to achieve durable responses in melanoma treatment. However, 25% of melanoma patients who showed objective responses to PD-1 blockade develop resistance and suffer from disease progression and ultimately death, which necessitates the identification of related resistance mechanisms.IL-34 is a cytokine that controls the biology of myeloid cell lineage through binding to CSF-1R. IL-34 is importantly involved in the pathogenesis of various diseases. In cancer, the expression of IL-34 has been suggested to associate with tumor growth, metastasis, angiogenesis, and therapeutic resistance such as in lung cancers and malignant pleural mesotheliomas. In this study, we evaluate the possible involvement of IL-34 in immunotherapeutic resistance.
Case presentation:
Melanoma resection species were obtained from a patient who developed a refractory melanoma against immunotherapy with Nivolumab, and stained with anti-IL-34, anti-melanoma antigens and anti-CD163 antibody. Staining of these markers was compared between primary or metastatic refractory melanoma tissues. Immunohistochemistry staining of melanoma tissues showed an enhanced expression of IL-34 in metastatic refractory melanoma compared to primary melanoma tissues, which correlates with increased frequencies of CD163+ macrophages.
Conclusion:
We introduce for the first time a clinical case of a patient with metastatic refractory melanoma that acquired resistance to anti-PD-1 immunotherapy, showing an enhanced expression of IL-34 in refractory melanoma tissues.
RAD-140 Drug-Induced Liver Injury
Authors: Kenneth Leung, Priyanka Yaramada, Preeya Goyal, Cindy X Cai, Irene Thung, Muhammad B Hammami
Journal: Ochsner J (2022)
Keywords: chemical and drug induced liver injury, enobosarm, lgd-4033, rad140
MeSH terms: Case Reports

Background: RAD-140, one of the novel selective androgen receptor modulators (SARMs), has potent anabolic effects on bones and muscles with little androgenic effect. Despite the lack of approval for its clinical use, RAD-140 is readily accessible on the consumer market. Hepatotoxicity associated with the use of SARMs has only rarely been reported in the literature. Case Report: A 24-year-old male presented with a 2-week history of diffuse abdominal pain, scleral icterus, pruritus, and jaundice. Prior to presentation, he had been taking the health supplement RAD-140 for muscle growth for 5 weeks. He had a cholestatic pattern of liver injury, with a peak total bilirubin of 38.5 mg/dL. Liver biopsy was supportive of a diagnosis of RAD-140-associated liver injury characterized pathologically by intracytoplasmic and canalicular cholestasis with minimal portal inflammation. Symptoms and liver injury resolved after cessation of the offending agent. Conclusion: To date, only select descriptions of the potential hepatoxicity associated with the use of SARMs, including RAD-140, have been published. Given their potential hepatoxicity and ready availability on the consumer market, RAD-140 and other SARMs should be used judiciously and under close clinical supervision until further hepatic safety data become available.
Concurrence of multiple aneurysms, extreme coiling of the extracranial internal carotid artery and ipsilateral persistent primitive hypoglossal artery: A case report and literature review
Authors: Zheng Wan, Tianyi Liu, Ning Xu, Qin Liu, Xiaodong Yu, Honglei Wang
Journal: Front Neurol (2022)
Keywords: carotid-basilar anastomoses, congenital vascular anomaly, multiple cerebral aneurysms, persistent primitive hypoglossal artery, tortuosity of ica
MeSH terms: Review

Background:
The primitive hypoglossal artery (PHA) is an anastomotic vessel of the carotid-basilar artery system that is prevalent only transiently during the embryonic period. Persistent primitive hypoglossal artery (PPHA) is a rare vessel variation in which PHA exists persistently in adulthood and occurs in approximately 0.02-0.1% of the population. Tortuosity of the extracranial internal carotid artery (ICA) is relatively common, impacting 10-43% of the population, and is caused by either congenital or acquired factors. It is still unknown whether PPHA and tortuosity of extracranial ICA are associated. Here, we present a case report of the concurrence of three types of pathologies of the carotid artery: extreme coiling of the extracranial internal carotid artery, multiple aneurysms and persistent primitive hypoglossal artery.
Case description:
A 66-year-old woman suffered intermittent headaches, dizziness and numbness of the right eyelid for 5 years. Magnetic resonance angiography performed in a local hospital reported an aneurysm of the posterior communicating artery segment of the left ICA and a left PPHA. Digital subtraction angiography conducted after admission showed a PPHA originating from the left cervical ICA and an extremely coiling segment of the ICA distal to the beginning of PPHA. Except for the aneurysm of the posterior communicating artery segment of the left ICA, multiple aneurysms were found at the coiling segment of the ICA.
Conclusion:
To the best of our knowledge, this is the first report of PPHA accompanied by an adjacent, extremely coiling ICA. There are no reports of similar tortuous ICAs to this extent or at this position. Including aneurysms, three types of pathologies suggest their congenital origin, and a review of the literature infers the probable association of these lesions.
Case Report: Treatment of Kratom Use Disorder With a Classical Tricyclic Antidepressant
Authors: Alessandro E Vento, Simone de Persis, Sergio De Filippis, Fabrizio Schifano, Flavia Napoletano, John M Corkery, Georgios D Kotzalidis
Journal: Front Psychiatry (2021)
Keywords: clomipramine, kratom, mitragynine, substance use disorder, withdrawal syndrome
MeSH terms: Case Reports

Kratom or Mitragyna speciosa (Korth.) is an evergreen tree of the coffee family native to South-East Asia and Australasia. It is used by locals recreationally to induce stimulant and sedative effects and medically to soothe pain and opiate withdrawal. Its leaves are smoked, chewed, or infused, or ground to yield powders or extracts for use as liquids. It contains more than 40 alkaloids; among these, mitragynine and 7-hydroxymitragynine are endowed with variable mu, delta, and kappa opioid stimulating properties (with 7-hydroxymitragynine having a more balanced affinity), rhynchophylline, which is a non-competitive NMDA glutamate receptor antagonist, but is present in negligible quantities, and raubasine, which inhibits α1-adrenceptors preferentially over α2-adrenceptors, while the latter are bound by 7-hydroxymitragynine, while mitragynine counters 5-HT2A receptors. This complexity of neurochemical mechanisms may account for kratom's sedative-analgesic and stimulant effects. It is commonly held that kratom at low doses is stimulant and at higher doses sedative, but no cut-off has been possible to define. Long-term use of kratom may produce physical and psychological effects that are very similar to its withdrawal syndrome, that is, anxiety, irritability, mood, eating, and sleep disorders, other than physical symptoms resembling opiate withdrawal. Kratom's regulatory status varies across countries; in Italy, both mitragynine and the entire tree and its parts are included among regulated substances. We describe the case of a patient who developed anxiety and dysphoric mood and insomnia while using kratom, with these symptoms persisting after withdrawal. He did not respond to a variety of antidepressant combinations and tramadol for various months, and responded after 1 month of clomipramine. Well-being persisted after discontinuing tramadol.
Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
Authors: A M Ali, R M Mbwasi, G Kinabo, E-J Kamsteeg, B C Hamel, M C J Dekker
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

We report a case of a male baby who has characteristic signs of Freeman-Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndrome and confirmed by genetic analysis that showed a de novo missense mutation c.2015G>A (p.Arg672His) of the MYH3 gene. We highlight the different features present in our patient and describe the etiology of the Freeman-Sheldon phenotype and how its clinical complications can be dealt with. To the best of our knowledge, this is the first molecularly confirmed case of Freeman-Sheldon syndrome in sub-Saharan Africa.
Spontaneous rupture of the spleen operated in gynecological unit mistaken for ruptured hemorrhagic ovarian cyst: total splenectomy
Authors: Filbert Eko Eko, Florent Ymele Fouelifack, Elanga Vincent de Paul
Journal: Pan Afr Med J (2014)
Keywords: spleen, rupture, splenectomy
MeSH terms: Abdominal Pain / etiology, Ovarian Cysts / diagnosis, Splenectomy / methods, Splenic Rupture / diagnosis, Case Reports, Female, Humans, Rupture, Spontaneous / diagnosis, Rupture, Spontaneous / surgery, Splenic Rupture / surgery, Young Adult

Spontaneous splenic rupture is always neglected when consulting acute abdominal pains in gynecological emergencies. It constitutes about 1% of all splenic ruptures and can be managed by abstention, surgery or embolization. We present the case of a young lady who was diagnosed of spontaneous rupture during surgery that was mistaken for ruptured hemorrhagic ovarian cyst and finally treated by total splenectomy. The pre-operative work up was absolute for a rupturred hemorrhagic cyst and secondariy for a ruptured ectopic gestation.
Rapid corneal thinning and perforated ulcerative keratitis in a patient with relapsing polychondritis
Authors: Tracy Hiu Ting Lai, Nikki Far, Alvin Lerrmann Young, Vishal Jhanji
Journal: Eye Vis (Lond) (2017)
Keywords: corneal perforation, relapsing polychondritis, ulcerative keratitis
MeSH terms: Case Reports

Background:
To report rapid corneal thinning and perforation in a case with relapsing polychondritis.
Case presentation:
A 43 year-old male diagnosed with relapsing polychondritis suffered from bilateral scleritis, bilateral swelling of pinna, saddle nose and tracheal stenosis. The patient presented with right eye pain and redness for one month. Slit lamp examination of the right eye showed 80% peripheral corneal thinning between 3 and 7 o'clock. The best-corrected visual acuity (BCVA) was 1.0 bilaterally. The degree of corneal thinning worsened to 90% after one week of oral corticosteroid use. Subsequently, topical cyclosporine 2% eye drops four times a day, oral doxycycline 100 mg twice a day and oral vitamin C 2 g daily were added. The corneal thinning gradually improved to about 60%. However, the patient rapidly tapered oral prednisolone against medical advice and returned with an acute drop in vision in his right eye. Slit lamp examination of the right eye showed peripheral corneal perforation with iris prolapse. An emergency repair with cyanoacrylate glue was performed. Intravenous methylprednisolone 1 mg/kg body weight was administered for three days and 1 g/day intravenous immunoglobulin was administered every four weeks. At 3 months postoperatively, BCVA in the right eye was 0.6. Slit lamp examination showed a well-formed anterior chamber with glue in situ.
Conclusions:
Relapsing polychondritis may be associated with rapid corneal thinning. The clinicians should be aware of the possibility of corneal perforation in these cases. Cyanoacrylate glue is a viable temporary management option in such scenarios.
Use of Interpersonal Counseling for Modern Type Depression
Authors: Hisae Ono, Ami Yamamoto, Reiko Taketani, Emi Tsujimoto
Journal: Case Rep Psychiatry (2017)
MeSH terms: Case Reports

A novel form of depression, called "modern type depression" (MTD), has been increasing in prevalence in Japan. Patients with MTD present with an overt appeal of depressive mood and a desire to be excused from their work duties; as such, this can cause considerable trouble in the workplace. Psychosocial interventions should be primarily considered for the treatment of MTD. Interpersonal counseling (IPC), which has proven effective for treating subthreshold depression, may be effective for MTD. However, IPC is rarely done in Japan. Herein, we report on a successful case of IPC for a woman in her thirties who was about to quit her job due to MTD (diagnosed by the criteria for research use). After IPC, the patient enjoyed good communication with her boss and continued her job without succumbing to her depression. This case suggests that IPC may be effective for MTD in workers and further highlights the benefits of teaching interpersonal communication methods in the workplace.
Intra-articular giant synovial osteochondroma: case reports of the ankle and knee joint
Authors: Paolo Fornaciari, Pascal A Schai, Richard Niehaus, Ulrich G Exner
Journal: Case Rep Orthop (2015)

Two cases of giant intra-articular osteochondromas (knee and ankle joint) are reported; pathologically they are rare representations of synovial chondromatosis. A 17-year-old man presented with a tumorous mass which had been localized in his left ankle for many years, increasing in volume during the last months. The lesion was removed by posteromedial ankle arthrotomy. The second case was observed in a 39-year-old woman with a slow-growing mass in her right knee joint. The lesion was removed from the Hoffa fat pad by open anteromedial arthrotomy.
Surgical Resection with Neoadjuvant Chemotherapy for Locoregionally Recurrent Appendiceal Cancer Invading the External Iliac Vessels
Authors: Jun Takahashi, Shingo Tsujinaka, Nao Kakizawa, Noriya Takayama, Erika Machida, Kazuki Iseya, Fumi Hasegawa, Rina Kikugawa, Yasuyuki Miyakura, Koichi Suzuki, Toshiki Rikiyama
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Recent advancements in multimodal therapy can provide oncologic benefits for patients with recurrent colorectal cancer. This report presents a case of locoregionally recurrent appendiceal cancer treated with neoadjuvant chemotherapy followed by surgical resection with vascular reconstruction. A 68-year-old Japanese woman was diagnosed with appendiceal cancer and underwent ileocecal resection. The pathological evaluation revealed KRAS-mutant adenocarcinoma with the final stage of T4bN1M0. She received oral fluorouracil-based adjuvant chemotherapy. One year later, she was found to have peritoneal dissemination in the pelvic cavity and vaginal metastasis. She received an oxaliplatin-based chemotherapy followed by surgical resection. One year after the second surgery, she developed a locoregional recurrence involving the right external iliac vessels and small intestine. She received an irinotecan-based regimen with bevacizumab as neoadjuvant chemotherapy, followed by surgical resection. At first, a femoro-femoral bypass was made to secure the blood supply to the right lower extremities. Subsequently, an en bloc resection including the recurrent tumor and the external iliac vessels was completed. Surgical resection for recurrent colorectal cancer is often technically challenging because of the tumor location and invasion to adjacent organs. In this case, a surgical approach with persistent chemotherapy achieved oncologic resection of locoregionally recurrent appendiceal cancer.
A case report describing the immune response of an infant with congenital heart disease and severe COVID-19
Authors: Danielle Wurzel, Melanie R Neeland, Jeremy Anderson, Yara-Natalie Abo, Lien Anh Ha Do, Celeste M Donato, Julie E Bines, Zheng Quan Toh, Rachel A Higgins, Sedi Jalali, Theresa Cole, Kanta Subbarao, Alissa McMinn, Kate Dohle, Gabrielle M Haeusler, Sarah McNab, Annette Alafaci, Isabella Overmars, Vanessa Clifford, Lai-Yang Lee, Andrew J Daley, Jim Buttery, Penelope A Bryant, David Burgner, Andrew Steer, Shidan Tosif, Igor E Konstantinov, Trevor Duke, Paul V Licciardi, Daniel G Pellicci, Nigel W Crawford
Journal: Commun Med (Lond) (2021)
Keywords: paediatric research, viral infection

Background:
Children with SARS-CoV-2 infection generally present with milder symptoms or are asymptomatic in comparison with adults, however severe disease occurs in a subset of children. To date, the immune correlates of severe COVID-19 in young children have been poorly characterised.
Methods:
We report the kinetics of immune responses in relation to clinical and virological features in an infant with acute severe COVID-19 using high-dimensional flow cytometry and multiplex cytokine analysis.
Results:
Systemic cellular and cytokine profiling show an initial increase in neutrophils and monocytes with depletion of lymphoid cell populations (particularly CD8 + T and NK cells) and elevated inflammatory cytokines. Expansion of memory CD4 + T (but not CD8 + T) cells occurred over time, with a predominant Th2 bias. Marked activation of T cell populations observed during the acute infection gradually resolved as the child recovered. Substantial in vitro activation of T-cell populations and robust cytokine production, in response to inactivated SARS-CoV-2 stimulation, was observed 3 months after infection indicating durable, long-lived cellular immune memory.
Conclusions:
These findings provide important insights into the immune response of a young infant with severe COVID-19 and will help to inform future research into therapeutic targets for high-risk groups.