OpenMed/multicare-articles huggingface dataset:
A case of VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) with decreased oxidative stress levels after oral prednisone and tocilizumab treatment
Authors: Nagie Tozaki, Chisato Tawada, Hirofumi Niwa, Yoko Mizutani, En Shu, Aki Kawase, Yuki Miwa, Hidenori Ohnishi, Hideo Sasai, Keisuke Miyako, Junichi Hosokawa, Ayaka Kato, Kazuhiro Kobayashi, Tatsuhiko Miyazaki, Yohei Shirakami, Masahito Shimizu, Hiroaki Iwata
Journal: Front Med (Lausanne) (2022)
Keywords: e1 enzyme, vexas, x-linked, autoinflammatory diseases, somatic, tocilizumab, vacuoles
MeSH terms: Case Reports

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome has recently been described as an autoinflammatory disease associated with severe adult-onset inflammatory manifestations. The various clinical manifestations include recurrent high-grade fever, neutrophilic dermatoses, cutaneous vasculitis, chondritis of the ear and nose, pulmonary infiltrates, cytopenia, uveitis, gastrointestinal pain or inflammation, aortitis, hepatosplenomegaly, and hematological disorders. VEXAS syndrome is caused by somatic mutations of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene in myeloid-lineage cells. It is characterized by vacuolated myeloid and erythroid progenitor cells seen by bone marrow biopsy. We report the case of a 64-year-old Japanese man with VEXAS syndrome. At age 63, he was referred to us with a recurrent erythema on the hands associated with a general fever of 38-40°C that had persisted for 4 or 5 days and had recurred about once a month for a year. The skin rash appeared 2 or 3 days after the onset of each fever episode. Computed tomography (CT) of the chest revealed bilateral hilar lymphadenopathy (BHL), and the mediastinal lymph nodes were swollen. Sarcoidosis was suspected but was ruled out by several tests. Laboratory examinations showed elevated inflammatory markers. Bone marrow examination showed the vacuolization of myeloid precursor cells. A skin biopsy revealed dense dermal, predominantly perivascular, infiltrates. These consisted of mature neutrophils admixed with myeloperoxidase-positive CD163-positive myeloid cells, lymphoid cells and eosinophils. Sequencing analysis identified the somatic UBA1 variant c.122T > C, which results in p.Met41Thr. Treatment with oral prednisone (15 mg/day) and monthly intravenous tocilizumab injections (400 mg) completely resolved the symptoms. Neutrophils are a major source of reactive oxygen species, and the present case demonstrated numerous neutrophilic infiltrates. We hypothesize that the patient might have had elevated derivatives of reactive oxygen metabolites (d-ROMs). d-ROM quantification is a simple method for detecting hydroperoxide levels, and clinical trials have proven it useful for evaluating oxidative stress. In this study, we measured serum d-ROM before and after oral prednisone and tocilizumab treatment. The levels decreased significantly during treatment.
Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid
Authors: Martina Messina, Emanuela Manea, Thomas Cullup, Karin Tuschl, Spyros Batzios
Journal: JIMD Rep (2022)
Keywords: csf, gpi‐anchor defects, hpmrs, pgap2‐cdg, developmental delay, folinic acid, pyridoxine
MeSH terms: Case Reports

Glycosylphosphatidylinositol anchored proteins (GPI-APs) represent a class of molecules attached to the external leaflet of the plasma membrane by the GPI anchor where they play important roles in numerous cellular processes including neurogenesis, cell adhesion, immune response and signalling. Within the group of GPI anchor defects, six present with the clinical phenotype of Hyperphosphatasia with Mental Retardation Syndrome (HPMRS, Mabry Syndrome) characterized by moderate to severe intellectual disability, dysmorphic features, hypotonia, seizures and persistent hyperphosphatasia. We report the case of a 5-year-old female with global developmental delay associated with precocious puberty and persistently raised plasma alkaline phosphatase. Targeted next generation sequencing analysis of the HPMRS genes identified novel compound heterozygous variants in the PGAP2 gene (c.103del p.(Leu35Serfs*90)and c.134A > Gp.(His45Arg)) consistent with the diagnosis of HPMRS type 3. Cerebrospinal fluid (CSF) neurotransmitter analysis showed low levels of pyridoxal phosphate and 5-methyltetrahydrofolate and raised homovanillic acid. Supplementation with pyridoxine and folinic acid led to normalization of biochemical abnormalities. The patient continues to make developmental progress with significant improvement in speech and fine motor skills. Our reported case expands the clinical spectrum of HPMRS3 in which multisystem involvement is being increasingly recognized. Furthermore, it shows that miss-targeting GPI-APs and the effect on normal cellular function could provide a physiopathologic explanation for the CSF biochemical abnormalities with management implications for a group of disorders that currently has no treatment that can lead possibly to improved clinical outcomes.
Prolonged postoperative urine leakage due to a calyceal diverticulum mimicking a renal cyst: A case report and literature review
Authors: Jun-Jie Yu, An-Qi Yang, Yong-Jun Du, Tian-Bao Huang
Journal: Front Surg (2022)
Keywords: calyceal diverticulum, case report, conservative treatment, renal cyst, urine leakage
MeSH terms: Case Reports

Background:
The calyceal diverticulum is a rare cystic cavity that communicates with the collecting system via a narrow neck or infundibulum. In clinical practice, part of the calyceal diverticula is difficult to differentiate from simple renal cysts even after contrast-enhanced CT. To date, there have been few kinds of literature works on the diagnosis and treatment of calyceal diverticulum combined with renal pelvis dilatation, especially concerning the treatment of prolonged postoperative urine leakage.
Case description:
A 53-year-old woman with calyceal diverticulum and renal pelvis dilatation mimicking a simple renal cyst suffered urine leakage after receiving laparoscopic unroofing of the renal cyst. A persistent urine leakage was observed immediately after surgery, with about 200 ml of drainage fluid per day. We first attempted to place a double-J ureteral stent and indwell a catheter. After failing that, conservative treatment was performed. The core idea of the conservative treatment is retaining the drainage tube for more than 1 month, then clamping the drainage tube for 1 week, and finally removing the drainage tube. By 3 weeks of follow-up, the urine leakage disappeared, and the CT scan showed hydronephrosis of the right kidney without perirenal exudation and the lower pole cyst of the right kidney shrank significantly.
Conclusion:
This case, we reported here, is to attract the attention of clinicians. Renal cysts should exclude the possibility of the calyceal diverticulum. If urine leakage is inevitable after surgical treatment, our conservative treatment strategy is also an alternative method.
Case Report: Persistent response to combination therapy of pemigatinib, chemotherapy, and immune checkpoint inhibitor in a patient with advanced intrahepatic cholangiocarcinoma
Authors: Zhuochao Zhang, Gaofei Wang, Lei Du, Jie Zhao, Lichao Pan, Gong Zhang, Fei Wang, Rong Liu
Journal: Front Immunol (2023)
Keywords: fgfr inhibitors, advanced intrahepatic cholangiocarcinoma, combined therapy, immune checkpoint inhibitor, pemigatinib
MeSH terms: Bile Duct Neoplasms / drug therapy, Bile Duct Neoplasms / pathology, Cholangiocarcinoma / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Bile Ducts, Intrahepatic / pathology, Female, Humans, Immune Checkpoint Inhibitors / therapeutic use, pemigatinib, Immune Checkpoint Inhibitors

Patients with advanced intrahepatic cholangiocarcinoma (iCCA) often have a poor prognosis. Recent advancements in targeted molecular therapy and immunotherapy have been made. Herein, we report a case of advanced iCCA treated with a combination of pemigatinib (a selective FGFR inhibitor), chemotherapy, and an immune checkpoint inhibitor. A 34-year-old female was diagnosed with advanced iCCA with multiple liver masses and metastases in the peritoneum and lymph nodes. Next-generation sequencing (NGS) identified the genetic mutations. An FGFR2-BICC1 gene fusion was found in this patient. The patient was treated with pemigatinib in combination with pembrolizumab plus systemic gemcitabine and oxaliplatin. After 9 cycles of the combination therapy, the patient achieved a partial response, complete metabolic response, and normalization of tumor markers. Sequentially, the patient received pemigatinib and pembrolizumab for 3 months. Due to the elevated tumor biomarker, she is currently receiving chemotherapy, pemigatinib, and pembrolizumab treatment again. She regained an excellent physical status after 16 months of treatment. To the best of our knowledge, this was the first reported case of advanced iCCA successfully treated with a combination of pemigatinib, chemotherapy, and ICIs as a first-line regimen. This treatment combination may be effective and safe in the advanced iCCA.
Evidence for systematic autopsies in COVID-19 positive deceased: Case report of the first German investigated COVID-19 death
Authors: A Fitzek, J Sperhake, C Edler, A S Schröder, A Heinemann, F Heinrich, A Ron, H Mushumba, M Lütgehetmann, K Püschel
Journal: Rechtsmedizin (Berl) (2020)
Keywords: biological agents ordinance, covid-19, deceased, high risk autopsy, sars-cov‑2

Forensic medicine and pathology involve specific health risks, whereby health workers are dealing with microorganisms, cells or parasites, which are referred to as biological agents. Biological agents are divided into four categories according to § 3 of the Biological Agents Ordinance. The newly identified coronavirus, severe acute respiratory syndrome, coronavirus 2 (SARS-CoV-2) that has spread rapidly around the world is placed into category 3 of the Biological Agents Ordinance, meaning pathogens that can cause serious illnesses in humans and may pose a risk to workers. The Robert Koch Institute, the German government's central scientific institution in the field of biomedicine issued the announcement, that aerosol-producing measures (including autopsies) of SARS-CoV‑2 infected bodies should be avoided, despite the fact that autopsies are an important source of understanding the pathomorphological course of new diseases. The first German case of death due to a proven SARS-CoV‑2 infection is presented with global multifocal reticular consolidation in the post-mortem computed tomography (CT) scan, a macroscopic and microscopic viral pneumonia and viral RNA of SARS-CoV‑2 in pharyngeal mucosa and lung tissue.
COVID-19-induced myocarditis in patient with anomalous origin of the left circumflex artery from the right coronary artery: a case report
Authors: Majed Khalil, Batoul Danash, Dany Akiki, Nabil Khoury
Journal: J Vasc Bras (2022)
Keywords: covid-19, anomalous circumflex artery, case report, coronary angiography, right coronary artery, viral-induced myocarditis
MeSH terms: Case Reports

The prevalence of coronary artery anomalies has been increasing due to the increasing usage of coronary angiography. There is a paucity of literature concerning management of viral-induced myocarditis in patients with anomalous coronary artery. We present a very unusual case of a 44-year-old man with anomalous origin of the left circumflex artery from the proximal ostium of the right coronary artery who was admitted for COVID-19-induced myocarditis. He presented with signs of heart failure and coronary angiography revealed the left circumflex artery with a separate ostium originating from the proximal right coronary artery. He was treated medically with Bisoprolol, Perindopril Arginine, Rivaroxaban, and Furosemide. His condition improved rapidly and he resumed regular life within 1 month. Coexistence of cardiac disease such as viral-induced myocarditis with an underlying anomalous origin of the coronary artery is challenging to spot and can lead to worse outcomes in case of misdiagnosis and inaccurate management.
Decompression and Enucleation of a Mandibular Radicular Cyst, Followed by Bone Regeneration and Implant-Supported Dental Restoration
Authors: M AboulHosn, Z Noujeim, N Nader, A Berberi
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Odontogenic cysts are usually treated by enucleation (cystectomy). Limited cysts (less than 5 cm) are usually managed by primary excision (total cystectomy), whereas larger ones (exceeding 5 cm) are often decompressed or marsupialized. Because it consists only of opening a much smaller surgical window, decompression is regarded as a more conservative method of treatment: this method associates the creation of an opening (window) into the cystic cavity with the suturing of a decompressing device (plastic tube or stent) at the periphery of the cyst. Apart from releasing intraluminal pressure in the pathological cavity, this procedure helps the lesion to progressively decrease in volume "with a gradual increase in bone apposition" and preserves pulp vitality and periodontal integrity of the adjacent teeth. We are reporting a case of a mandibular radicular cyst that was treated by decompression, followed by enucleation, bone reconstruction, and restoration with two osseointegrated dental implants. The cystic cavity progressively decreased in volume and increased in bone density.
Case Report: New Application of a Gufoni Maneuver Variation for Apogeotropic Lateral Semicircular Canal Benign Paroxysmal Positional Vertigo
Authors: Jiaoxuan Dong, Ling Li, Songbin He, Haipeng Liu, Fangyu Dai
Journal: Front Neurol (2022)
Keywords: gufoni maneuver, apogeotropic variant, benign paroxysmal positional vertigo (bppv), canalith repositioning procedure, case report, semicircular canals
MeSH terms: Case Reports

Background:
Several canalith repositioning procedures (CRPs) such as Gufoni maneuver have been proposed to treat the apogeotropic lateral semicircular canal variant of BPPV (LC-BPPV). The reported success rate varied widely in different studies. Research showed that there was a risk of treatment failure due to insufficient repositioning of the debris. So far, there is insufficient evidence to recommend a preferable CRP for apogeotropic LC-BPPV.
Case description:
A 49-year-old woman and a 48-year-old man diagnosed with apogeotropic LC-BPPV relapse were treated with original Gufoni maneuver for apogeotropic variant but no satisfactory result was obtained. A variation of Gufoni maneuver originally proposed for the geotropic variant was applied to detach otoconia toward the utricle or the non-ampullary arm. Apogeotropic nystagmus was successfully transformed into the geotropic variant. The subsequent Gufoni maneuver was successful. On a 64-year-old male with untreated apogeotropic LC-BPPV, we performed the Gufoni maneuver variation and observed a change in nystagmus direction. In all the three cases, no relapse of vertigo was reported after 1 month.
Conclusion:
The new application of Gufoni maneuver variation may improve the treatment of apogeotropic LC-BPPV. Treatment efficacy and patient-specific optimization such as head rotation angle deserve a large-scale validation and further investigation.
Severe mycosis as a rare infection after a corn auger injury of the hand: a case report
Authors: Richard J Bowles, Justin J Mitchell, Connie Price, Kyros Ipaktchi
Journal: Patient Saf Surg (2015)
Keywords: agricultural injuries, mangled hand, mucormycosis, zygomycosis
MeSH terms: Case Reports

Mucormycosis is a rare but serious infection that can be seen in immunocompetent individuals who experience traumatic injury. The authors report a case in a 28 year-old man who sustained a mangling hand injury in a corn augur accident. After initial aggressive debridement ongoing tissue necrosis was seen, and in subsequent biopsies invasive mucormycosis was diagnosed. The patient was successfully managed with immediate surgical debridement and antifungal medication and showed no sign of infection at six-month follow-up.
Case report: Severe rhabdomyolysis and acute liver injury in a high-altitude mountain climber
Authors: Yun-Chih Yeh, Chien-Chou Chen, Shih-Hua Lin
Journal: Front Med (Lausanne) (2022)
Keywords: abnormal liver function, acute high-altitude illness, acute kidney injury, hypobaric hypoxia, rhabdomyolysis
MeSH terms: Case Reports

Concurrent severe rhabdomyolysis and acute liver damage are rarely reported in the setting of acute high-altitude illness (AHAI). We described a 53-year-old healthy mountain climber who experienced headache and dyspnea at the summit of Snow Mountain (Xueshan; 3,886 m above sea level) and presented to the emergency room with generalized malaise, diffuse muscle pain, and tea-colored urine. His consciousness was alert, and he had a blood pressure of 114/74 mmHg, heart rate of 66/min, and body temperature of 36.8°C. Myalgia of the bilateral lower limbs, diminished skin turgor, dry oral mucosa, and tea-colored urine were notable. Urinalysis showed positive occult blood without red blood cells. The most striking blood laboratory data included creatine kinase (CK) 33,765 IU/L, inappropriately high aspartate aminotransferase (AST) 2,882 IU/L and alanine aminotransferase (ALT) 2,259 IU/L (CK/AST ratio 11.7, CK/ALT ratio 14.9), creatinine 1.5 mg/dl, serum urea nitrogen (BUN) 26 mg/dl, total bilirubin 1.7 mg/dl, ammonia 147 μg/ml, lactate 2.5 mmol/L, and prothrombin time 17.8 s. The meticulous search for the underlying causes of acute liver injury was non-revealing. With volume repletion, mannitol use, and urine alkalization coupled with avoidance of nephrotoxic and hepatotoxic agents, his clinical features and laboratory abnormality completely resolved in 3 weeks. Despite rarity, severe rhabdomyolysis and/oracute liver injury as a potential life-threatening condition requiring urgent management may occur in high-altitude hypobaric hypoxia.
An interdisciplinary approach aiding the diagnosis of primary progressive aphasia: A case report
Authors: Nadia Shigaeff, Mayra Zanetti, Sibelle de Almeida Tierno, Ana Beatriz Galhardi Di Tommaso, Thais Cristina Marques, Fábio Gazelato de Mello Franco
Journal: Dement Neuropsychol (2017)
Keywords: aphasia, elderly, frontotemporal dementia, progressive primary aphasia
MeSH terms: Case Reports

Frontotemporal dementia (FTD) is one of the most common causes of early-onset dementia with primary progressive aphasia (PPA) being the second-most-frequent form of this degenerative disease. Despite the similarity with progressive dementia (especially in early stages of Alzheimer´s disease), three types of PPA can be differentiated: semantic, agrammatic and logopenic (subtype discussed in this study). To date, no medications have been shown to improve or stabilize cognitive deficits in patients with PPA. We report the case of a 62-year-old woman with difficulty naming objects and planning. An interdisciplinary evaluation, including imaging and lab exams, together with neuropsychological and personality assessments, confirmed that the patient had logopenic PPA on the basis of repetition difficulty, phonemic and semantic paraphasias and absence of agrammatism. The timing of the assessment in this case, along with the resources available and commitment of an integrated interdisciplinary team, allowed a differential diagnosis (from other classical dementias) to be reached.
Case report: A novel PPP3CA truncating mutation within the regulatory domain causes severe developmental and epileptic encephalopathy in a Chinese patient
Authors: Jieling Li, Jie Cao
Journal: Front Neurol (2022)
Keywords: dee91, ppp3ca, case report, epilepsy, regulatory domain
MeSH terms: Case Reports

Introduction:
Developmental and epileptic encephalopathy 91 (DEE91; OMIM#617711) is a severe neurodevelopmental disorder caused by heterozygous PPP3CA variants. To the best of our knowledge, only a few DEE91 cases have been reported.
Results:
This study reports a boy who experienced recurrent afebrile convulsions and spasms at the age of 2 months. After being given multiple antiepileptic treatments with levetiracetam, adrenocorticotropic hormone (ACTH), prednisone, topiramate, and clonazepam, his seizures were not completely relieved. At the age of 4 months, the patient exhibited delayed neuromotor development and difficulty in feeding; at the age of 6 months, he was diagnosed with developmental regression with recurrent spasms and myoclonic seizures that could respond to vigabatrin. At the age of 1 year and 4 months, the patient showed profound global developmental delay (GDD) with intermittent absence seizures. Whole-exome sequencing (WES) identified a novel loss-of-function variant c.1258_1259insAGTG (p. Val420Glufs*32) in PPP3CA.
Conclusion:
This finding expands the genetic spectrum of the PPP3CA gene and reinforces the theory that DEE91-associated truncating variants cluster within a 26-amino acid region in the regulatory domain (RD) of PPP3CA.
Case Report: Efficacy of ensartinib treatment in pulmonary inflammatory myofibroblastic tumor with a rare GCC2-ALK fusion
Authors: Wenguang He, Xiao Ji, Congcong Song, Shanshan Song, Lixia Liu
Journal: Front Oncol (2022)
Keywords: gcc2-alk, case report, ensartinib, inflammatory myofibroblastic tumors, partial response
MeSH terms: Case Reports

Background:
Inflammatory myofibroblastic tumors (IMTs) are rare with distal metastasis. Approximately 50% of patients have anaplastic lymphoma kinase (ALK) fusion. Patients with non-small cell lung cancer with ALK fusion are usually highly sensitive to ALK tyrosine kinase inhibitors (TKIs), but the application of TKI in IMT needs further exploration.
Case presentation:
A 66-year-old man was diagnosed with IMT with bone metastasis, cT4N0M1c, IVB stage. Immunohistochemistry results showed that he was ALK positive, and next-generation sequencing revealed GCC2-ALK fusion in the IMT. The patient was administered first-line ensartinib 225-mg QD, which targeted GCC2-ALK fusion, and denosumab 120-mg Q4w anti-bone metastasis therapy. The patient developed a grade III rash, and the ensartinib dose was reduced to 125 mg QD; consequently, he achieved a partial response (PR), and the side effects significantly reduced. Computed tomography results showed that the patient maintained PR after 7 months of follow-up, and he was still in a state of progression-free survival without obvious side effects after 11 months of follow-up.
Conclusion:
To our knowledge, this is the first case of the GCC2-ALK fusion type in IMT and the first report showing that the use of ensartinib as a TKI in IMT has clinical benefits.
Acute leukaemoid reaction following cardiac surgery
Authors: Nigel E Drury, Ayyaz Ali, Shafi Mussa, Stephen T Webb, Kanchan P Rege, John Wallwork
Journal: J Cardiothorac Surg (2007)
MeSH terms: Leukemia, Myelogenous, Chronic, BCR-ABL Positive / complications, Leukemia, Myelogenous, Chronic, BCR-ABL Positive / diagnosis, Leukemoid Reaction / etiology, Myocardial Revascularization / adverse effects, Case Reports, Aged, Coronary Artery Disease / surgery, Fatal Outcome, Humans, Leukemia, Myelogenous, Chronic, BCR-ABL Positive / therapy, Male

Chronic myelomonocytic leukaemia is an atypical myeloproliferative disorder with a natural history of progression to acute myeloid leukaemia, a complex and poorly understood response by the bone marrow to stress. Cardiac surgery activates many inflammatory cascades and may precipitate a systemic inflammatory response syndrome. We present a case of undiagnosed chronic myelomonocytic leukaemia who developed rapidly fatal multi-organ dysfunction following cardiac surgery due to an acute leukaemoid reaction.