OpenMed/multicare-articles huggingface dataset:
Coexistence of treatment-related MLL cleavage and rearrangement in a child with haemophagocytic lymphohistiocytosis
Authors: A Ng, P F Ravetto, G M Taylor, R F Wynn, O B Eden
Journal: Br J Cancer (2004)
MeSH terms: Antineoplastic Combined Chemotherapy Protocols / adverse effects, DNA-Binding Proteins / genetics, Histiocytosis, Non-Langerhans-Cell / drug therapy, Leukemia, Myelomonocytic, Acute / etiology, Neoplasms, Second Primary / genetics, Nucleic Acid Synthesis Inhibitors / adverse effects, Proto-Oncogenes / genetics, Transcription Factors / genetics, Case Reports, Blotting, Southern, Dexamethasone / administration & dosage, Epstein-Barr Virus Infections / complications, Etoposide / adverse effects, Gene Rearrangement, Histiocytosis, Non-Langerhans-Cell / etiology, Histone-Lysine N-Methyltransferase, Humans, Infant, Male, Methotrexate / administration & dosage, Myeloid-Lymphoid Leukemia Protein, Polymerase Chain Reaction, Time Factors, Topoisomerase II Inhibitors, DNA-Binding Proteins, KMT2A protein, human, Nucleic Acid Synthesis Inhibitors, Topoisomerase II Inhibitors, Transcription Factors, Myeloid-Lymphoid Leukemia Protein, Etoposide, Dexamethasone, Histone-Lysine N-Methyltransferase, Methotrexate

Treatment-related acute myeloid leukaemia (t-AML) is a serious complication of topoisomerase 2 inhibitor therapy and is characterised by the presence of mixed lineage leukaemia (MLL) rearrangement. By molecular tracking, we were able to show that MLL cleavage preceded gene rearrangement by 3 months and before the clinical diagnosis of t-AML in a patient with haemophagocytic lymphohistiocytosis. This is the first report on the sequential detection of the two biomarkers in treatment-related leukaemogenesis.
Extensive Renal Arteriovenous Malformations Treated by Transcatheter Arterial Embolization
Authors: Tadashi Tabei, Hironao Tajirika, Jun Yoshigi, Kazuki Kobayashi
Journal: Case Rep Urol (2017)
MeSH terms: Case Reports

An 84-year-old woman was referred to our department due to gross hematuria. Enhanced computed tomography revealed early enhancement of the right renal vein and multiple tortuous vessels around the right renal hilus, part of which had invaded into the renal parenchyma and renal calix. We diagnosed her with arteriovenous malformations (AVMs) and performed transcatheter arterial embolization (TAE). Angiography showed extensive and complex AVMs located in the central and peripheral areas of her kidney. After TAE, the hematuria resolved and she became hemodynamically stable.
Bronchoscopy-Guided Intervention Therapy With Extracorporeal Membrane Oxygenation Support for Relapsing Polychondritis With Severe Tracheobronchomalacia: A Case Report and Literature Review
Authors: Pengcheng Zhou, Bing Fu, Chuantao Zhang, Keling Chen, Qianming Xia, Wenjun Tang, Wei Yu, Wenhui Huang
Journal: Front Med (Lausanne) (2021)
Keywords: bronchoscopy, extracorporeal membrane oxygenation, interventional therapy, relapsing polychondritis, severe airway stenosis, tracheobronchomalacia
MeSH terms: Case Reports

Relapsing polychondritis is an immune disorder of unknown etiology involving multiple systems that is characterized by persistent inflammation and destruction of cartilage, including the ears, nose, costal, joint, and airways. Airway involvement caused by relapsing polychondritis is common, and tracheobronchomalacia is the most serious complication, which is life-threatening. Currently, the exact mechanism of relapsing polychondritis with tracheobronchomalacia is unknown. Although glucocorticoids and immunosuppressive agents are administered, failures often occur. Currently, bronchoscopy-guided intervention therapy used in tracheobronchomalacia caused by chronic obstructive pulmonary disease or other etiology has gradually increased, but bronchoscopy-guided intervention therapy with extracorporeal membrane oxygenation assist used in tracheobronchomalacia caused by relapsing polychondritis has not been reported. Here, we report a case of relapsing polychondritis with severe tracheobronchomalacia. Although drug therapy was provided and airway stent implantation was performed, the tracheal stenosis was further aggravated. Because conventional anesthesia and mechanical ventilation cannot meet the needs of bronchoscopy-guided intervention therapy or guarantee sufficient safety. The intervention treatment was performed with the support of extracorporeal membrane oxygenation, which was successfully completed without obvious complications. The symptoms were significantly improved, and the patient was discharged uneventfully.
Transition Between Sensitive Delusion of Reference and Mood Disorder: A Case Report
Authors: Cecilia Maria Esposito, Alessio Fiorentini, Antonio Callari, Gian Maria Galeazzi, Paolo Brambilla
Journal: Front Psychiatry (2021)
Keywords: bipolar disorder, kretschmer, mood disorder, psychopathology, sensitive delusion of reference
MeSH terms: Case Reports

The Sensitive Delusion of Reference is a clinical entity described by Ernst Kretschmer and never integrated into mainstream nosographic systems. It represents the possibility of developing psychosis starting from a personality characterized by sensitivity, scrupulousness, and fear of judgment of others. The presentation of the following clinical case highlights how the overlap between this clinical entity and mood disorders leads to characteristic psychopathology, which has not been sufficiently detailed. In particular, the delusions, which always starts from the idea of reference and the shame in the face of the judgment of others, takes on characteristics of guilt during the depressive phases and persecutory themes during the activation phases. This clinical observation, which obviously needs to be confirmed on a larger scale, encourages a renewed interest in the concept of Kretschmer's Sensitive Delusion of Reference and creates the possibility of intersecting multiple psychopathological levels, for a more complete perspective on the individual case.
Increased Neurofilament Light Chain and YKL-40 CSF Levels in One Japanese IBMPFD Patient With VCP R155C Mutation: A Clinical Case Report With CSF Biomarker Analyses
Authors: Masaki Ikeda, Takeo Kuwabara, Eriko Takai, Hiroo Kasahara, Minori Furuta, Akiko Sekine, Kouki Makioka, Tsuneo Yamazaki, Yukio Fujita, Kazuaki Nagashima, Tetsuya Higuchi, Yoshito Tsushima, Yoshio Ikeda
Journal: Front Neurol (2020)
Keywords: ad, csf, ibmpfd, nfl, vcp, ykl-40, frontotemporal dementia, mutation
MeSH terms: Case Reports

Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (IBMPFD) presents with multiple symptoms and an unknown etiology. Valosin-containing protein (VCP) has been identified as the main causative gene of IBMPFD. However, no studies on neurofilament light chain (NFL) as a cerebrospinal fluid (CSF) marker of axonal neurodegeneration or on YKL-40 as a CSF marker of glial neuroinflammation have been conducted in IBMPFD patients with VCP mutations. A 65-year-old man presented with progressive muscle atrophy and weakness of all limbs, non-fluent aphasia, and changes in personality and behavior. Cerebral MRI revealed bilateral frontal and temporal atrophy. 99mTc-HMDP bone scintigraphy and pelvic CT revealed remodeling changes and active osteoblastic accumulations in the right medial iliac bone. Muscle biopsy demonstrated multiple rimmed vacuoles in muscle cells with myogenic and neurogenic pathological alterations. After the patient was clinically diagnosed with IBMPFD, DNA analysis of the VCP gene revealed a cytosine (C) to thymine (T) (C→ T) mutation, resulting in an amino acid exchange of arginine to cysteine (p.R155C mutation). The CSF levels of NFL at two time points (12 years apart) were higher than those in non-dementia controls (CTR) and Alzheimer's disease (AD); lower than those in frontotemporal dementia with motor neuron disease (FTD-MND); and comparable to those in patients with behavioral variant frontotemporal dementia (bvFTD), progressive supranuclear palsy (PSP), and corticobasal syndrome (CBS). The CSF levels of YKL-40 were comparable at both time points and higher than those in CTR; lower than those in FTD-MND; and comparable to those in bvFTD, PSP, CBS, and AD. The CSF levels of phosphorylated tau 181 (P-Tau) and total tau (T-Tau) were not significantly different from those in CTR and other neurodegenerative diseases, except those in AD, which were significantly elevated. This is the first report that demonstrates increased NFL and YKL-40 CSF levels in an IBMPFD patient with a VCP mutation (p.R155C); NFL and YKL-40 levels were comparable to those in bvFTD, PSP, CBS, and AD and higher than those in CTR. Our results suggest that IBMPFD neuropathology may involve both axonal neurodegeneration and glial neuroinflammation.
A Case of Multiple Posterior Intercostal Artery Common Trunks in Conjunction with Additional Arterial Variations
Authors: Nicholas R Fanselow, Nolan Wallace, Daniel Sehi, Lokesh Coomar, John Martin, Yun Tan, Daniel T Daly
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Several thoracic vasculature variations were observed in an 81-year-old male cadaver during routine dissection. These included 5 common trunks of posterior intercostal arteries, a descending branch of the right vertebral artery, and atypical neurovascular relationships within intercostal spaces. On the right side, two common trunks of posterior intercostal arteries were observed supplying the 4th-7th intercostal spaces and 9th-11th intercostal spaces, respectively. There was also a small accessary branch supplying the 9th intercostal space. The first three posterior intercostal spaces on the right were supplied by a descending branch of the vertebral artery. On the left side, three common trunks of posterior intercostal arteries were encountered, supplying intercostal spaces 3-5, 6-7, and 11 plus the subcostal space. An atypical neurovascular relationship was observed in the right 6th intercostal space, as well as the left 2nd, 3rd, and 6th intercostal spaces. This is the first case report that presents 5 common trunks of posterior intercostal arteries, as well as common trunks in conjunction with other arterial variation in the posterior thoracic wall. These variations carry a high level of clinical significance and may be helpful in guiding decision-making related to surgical procedures related to the posterior thoracic cavity and spine.
Two Venovenous Extracorporeal Membrane Oxygenation for One Gunshot
Authors: Louis Pot, Alizée Porto, Audrey Le Saux, Amandine Bichon, Emi Cauchois, Marc Gainnier, Julien Carvelli, Jeremy Bourenne
Journal: Case Rep Crit Care (2022)
MeSH terms: Case Reports

Venovenous extracorporeal membrane oxygenation (VV-ECMO) is an adjuvant treatment for severe acute respiratory distress syndrome (ARDS) with refractory hypoxemia. Contraindications to therapeutic anticoagulation must be ruled out prior to ECMO implementation. We report the case of a 17-year-old male admitted in intensive care unit (ICU) for penetrating chest trauma due to multiple gunshot wounds. The body computed tomography (body CT scan) documented right pulmonary contusions and a homolateral hemothorax. His condition rapidly deteriorated with refractory hypoxemia due to lung contusion requiring invasive mechanical ventilation (IMV) and polytransfused hemorrhagic shock. During his stay in ICU, venovenous ECMO (VV-ECMO) was implemented twice, firstly for trauma-induced ARDS and secondly after thoracic surgery. This case emphasizes the successful use of VV-ECMO in posttraumatic ARDS without increasing the risk of bleeding.
Case report: Successful outcome of COVID-19 in the context of autologous hematopoietic stem cell transplantation: The impact of the anti-SARS-CoV-2 vaccine and early remdesivir
Authors: Angioletta Lasagna, Antonio Piralla, Simona Secondino, Paolo Sacchi, Fausto Baldanti, Raffaele Bruno, Paolo Pedrazzoli
Journal: Front Med (Lausanne) (2022)
Keywords: covid-19, g-csf, hematopoietic stem cell transplantation (hsct), neutropenia, remdesivir, vaccine
MeSH terms: Case Reports

Coronavirus disease (COVID-19) in patients undergoing hematopoietic stem cell transplantation (HSCT) is a major issue. None of the published papers have reported data on the outcome of HSCT patients with COVID-19 according to the vaccination status and the short course of remdesivir (RDV). Therefore, we present the case of a 22-year-old man with relapsed testicular non-seminomatous germ-cell tumor who was diagnosed with COVID-19 during his first auto-HSCT. Our case report is the first one describing the efficacy of early RDV (and its anti-inflammatory effects that might counterbalance the negative effect of the recombinant human granulocyte-colony stimulating factors -rhG-CSF-) in the context of severe neutropenia following HSCT with the concomitant onset of COVID-19.
Successful manual reduction for ureterosciatic hernia: A case report
Authors: Jiro Kimura, Kentaro Yoshikawa, Takashi Sakamoto, Alan Kawarai Lefor, Tadao Kubota
Journal: Int J Surg Case Rep (2019)
Keywords: manual reduction, sciatic hernia, ureter

Introduction:
Sciatic hernias are the least common type of pelvic floor hernias. The purpose of this study was to present a novel technique for manual reduction and to conduct a systematic review of previous reports of sciatic hernias to characterize them and review the outcomes.
Presentation of case:
An 86-year-old female presented with left-sided lumbar pain. She had a past medical history of rheumatoid arthritis and was treated with prednisolone and methotrexate. Her left abdomen and left lumbar area were tender. An unenhanced abdominal computed tomography scan revealed invagination of the left ureter into the left sciatic foramen and a dilated left proximal ureter and renal pelvis. Ultrasonography showed an invaginated left ureter viewing from the left buttock. She was diagnosed with a sciatic hernia. Ultrasound-guided manual transvaginal reduction was performed. Post-procedure unenhanced abdominal computed tomography scan confirmed reduction of the ureter. After 10-months of follow-up, there is no evidence of recurrence.
Discussion:
Previous reports of patients with sciatic hernia were identified. Clinical data associated with the hernia, reduction technique and clinical outcomes were collected for 72 patients. Open reduction was performed in 24 patients. A ureteral stent was placed in eight patients when the hernia contained the ureter. Four postoperative complications including one death were reported in adults. There were no reports of closed manual reduction.
Conclusion:
A sciatic hernia in women may be manually reduced without surgery. Further reviews of this rare entity are needed to determine the best management strategy.
Presentation of an umbilical cord cyst with a surprising jet: a case report of a patent urachus
Authors: John Svigos, Sanjeev Khurana, Christopher Munt, Sanjay Sinhal, Julie Bernardo
Journal: F1000Res (2013)

We report a baby with an unusual true umbilical cord cyst detected at 12 weeks gestation which as the pregnancy progressed became increasingly difficult to distinguish from a pseudocyst of the umbilical cord. Concern of the possibility of cord compression/cord accident led to an elective caesarean section being performed at 35+ week's gestation with delivery of a healthy female infant weighing 2170g. At birth the cyst ruptured and the resultant thickened elongated cord was clamped accordingly. After the cord clamp fell off at 5 days post delivery an elongated umbilical stump was left behind from which a stream of urine surprisingly jetted out from the umbilicus each time the baby cried. A patent urachus was confirmed on ultrasound and the umbilical jet of urine resolved at 4 weeks post delivery after treatment of an Escherichia coli urinary tract infection. At 11 weeks post delivery a laparoscopic excision of the urachus was successfully performed. The baby, now 18 months of age, continues to thrive without incident.
Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature
Authors: Hui Wang, Dian Wu, De-Hua Wu, Hong-Juan Tian, Hai-Feng Li, Ke-Wen Jiang, Chao-Chun Zou
Journal: Front Pediatr (2022)
Keywords: myrf gene, cardiac-urogenital syndrome, disorders/differences of sex development, nanophthalmos, short stature
MeSH terms: Case Reports

The myelin regulatory factor (MYRF; MIM# 608329) gene was first identified as a critical transcription factor involved in oligodendrocyte differentiation and central nervous system myelination. With the recent development of exome sequencing, pathogenic variants of MYRF had been considered as the cause of cardiac-urogenital syndrome (CUGS), 46,XY and 46,XX disorders/differences of sex development (DSDs), and nanophthalmos. Herein, we described a 4-year-7-month-old "girl" with ventricular septal defect, atrial septal defect, patent ductus arteriosus, severe pulmonary hypertension, moderate-to-severe tricuspid regurgitation, enlarged coronary sinus, left superior vena cava, and right lung hypoplasia at birth. Later, the patient developed short stature and amblyopia. Further examination revealed a karyotype 46,XY and visible uterus, whereas the presence of gonads were not explored. Laparoscopy revealed dysplasia of testicular gonad. Whole-exome sequencing (WES) was performed and a de novo heterozygous mutation in MYRF was identified, known as c.2817G > A/p. W939* (NM_001127392.3). Therefore, this case report presented multiple clinical manifestations with syndromic symptoms of CUGS, 46,XY DSD, and ocular symptoms. These new data expanded the phenotype of the MYRF variant and may benefit to characterize the phenotypes caused by the variants of this gene.
Oral ulcer as an exclusive sign of gastric cancer: report of a rare case
Authors: Piergiuseppe Colombo, Luca Tondulli, Giovanna Masci, Andrea Muzza, Lorenza Rimassa, Duccio Petrella, Armando Santoro
Journal: BMC Cancer (2005)
MeSH terms: Carcinoma, Signet Ring Cell / diagnosis, Carcinoma, Signet Ring Cell / pathology, Gingival Neoplasms / secondary, Mouth / pathology, Mouth Neoplasms / secondary, Stomach Neoplasms / diagnosis, Stomach Neoplasms / pathology, Ulcer / pathology, Case Reports, Biopsy, Carcinoma / pathology, Cell Differentiation, Fatal Outcome, Female, Humans, Immunohistochemistry, Middle Aged, Mouth Mucosa / pathology, Neoplasm Metastasis, Palate, Hard / pathology

Background:
The oral cavity is a rare but occasional target for metastases, which may masquerade as various benign and inflammatory lesions, and sometimes also be asymptomatic. Oral metastatic lesions have been described in various cancers, particularly lung, breast and kidney carcinoma.
Case presentation:
We here describe an uncommon case of a hard palate mucosa and gingival metastasis from gastric carcinoma that was originally diagnosed as a periodontal disease. Histopathological examination of a biopsy of the lesion revealed a signet-ring cell carcinoma, and a subsequent biopsy of an ulcerated stomach lesion showed a poorly differentiated gastric carcinoma. The patient underwent gastric resection but died of heart failure on the tenth postoperative day; a post-mortem examination revealed a residual bilateral ovarian infiltration by gastric carcinoma (Krukenberg's tumor).
Conclusion:
An occult carcinoma of the stomach may rarely metastasise to the oral cavity even as a first and exclusive manifestation; it is important to bear this possibility in mind because such conditions may mimic a benign disease.
Osteochondroma as a Cause of Ischiofemoral Impingement - First Case Series
Authors: Bünyamin Güney, Emrah Doğan, Murat Yunus Özdemir
Journal: Acta Med Litu (2021)
Keywords: ischiofemoral impingement, magnetic resonance, osteochondroma, quadratus femoris muscle impingement
MeSH terms: Case Reports

Ischiofemoral impingement (ISFI)is the compression of the quadratus femoris muscle resulting from the narrowed distance between the lesser trochanter and the ischial bone. Congenital factors (such as developmental hip dysplasia), positional conditions (such as femoral anteversion), intertrochanteric fractures, osteotomy, and osteoarthritis may lead to the superior and medial displacement of the femur which is causing the ISFI. According to the literature, osteochondroma (OC) is not described among the main etiological factors of ISFI. There is only one case report about the relationship between ISFI and OC. We present two ISFI cases due to OC accompanied by radiological findings. Our patients are 19 and 32 years old. Our article is the first case series on this topic.
Creutzfeldt-Jakob Disease Presenting with Dementia and Mimic a Stroke During One Year: Case Report and Review of Literatures
Authors: Alireza Vakilian, Mohaddaseh Fekri, Habib Farahmand
Journal: Galen Med J (2019)
Keywords: creutzfeldt-jakob disease, dementia, incidence
MeSH terms: Case Reports

Background:
Creutzfeldt-Jakob disease (CJD) is a progressive and fatal prion disease in human and its annual incidence is estimated one per million. Sporadic form of CJD is the most common form of the disease that involved 85% of cases.
Case report:
We presented two cases of CJD with the different clinical presentation; a 58-year-old woman who referred with amnesia, depression and a 59-year-old woman with ataxia as her chief complaint. Based on the findings and roled-out the other differential diagnosis, the CJD was confirmed. Both of them died before 12 months after diagnosis.
Conclusion:
Although CJD is a rare disease with different clinical manifestation, it is considered as one the differential diagnosis of progressive dementia.
ANCA Vasculitis and Hemophagocytic Lymphohistiocytosis following a Fecal Microbiota Transplant
Authors: Adam Amlani, Amy Bromley, Aurore Fifi-Mah
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

A 69-year-old female with antisynthetase syndrome, a history of multiple recurrent infections, and documented previous negative titres for anti-neutrophil cystoplasmic antibody (ANCA) suddenly developed a de novo MPO-ANCA-associated glomerulonephritis three weeks after a fecal microbiota transplantation (FMT) for recurrent Clostridium difficile infections. Six months following her FMT and less than two weeks following treatment for urosepsis, she developed severe cholestasis, a markedly elevated ferritin and hypertriglyceridemia. An initial liver biopsy was suggestive of drug-induced liver injury and thus she was treated with supportive care. After she failed to improve, a second liver biopsy supported the diagnosis of hemophagocytic lymphohistiocytosis (HLH). This case highlights difficulties surrounding the early diagnosis of HLH and also questions the role of FMT and/or recurrent infections as a trigger for ANCA-associated vasculitis.
Case Report: Fluzoparib for multiple lines of chemotherapy refractory in metastatic cutaneous squamous cell carcinoma with BRCA2 pathogenic mutation
Authors: Xin Sun, Wenjuan Chen, Xiujuan Qu, Ying Chen
Journal: Front Pharmacol (2022)
Keywords: brca2 germline mutation, parpi, case report, cutaneous squamous cell carcinoma, fluzoparib
MeSH terms: Case Reports

Background: Poly ADP-ribose polymerase inhibitors (PARPis) are widely used for patients with BRCA1/2 mutations. However, until now, there is no available evidence reported for the efficiency of PARPis in cutaneous squamous cell carcinoma (cSCC). Case presentation: We presented a case of a 40-year-old man diagnosed with metastatic cSCC, relapsing after multiple lines of chemotherapy. Liquid biopsy detected a BRCA2 pathogenic germline mutation (c.3109C > T), indicating PARPis might be effective for this patient. The patient achieved tumor stability, and progression-free survival was five months without severe adverse effects after taking fluzoparib. Conclusion: This result confirmed that PARPis were effective for metastatic cSCC patients with germline BRCA2 pathogenic mutations and provided a new treatment option for this group of patients.