OpenMed/multicare-articles huggingface dataset:
Intestinal Langerhans cell histiocytosis presenting with symptoms similar to inflammatory bowel disease: a case report
Authors: Yuqing Liu, Zhenwei Chen, Lu Wang, Baizhou Li
Journal: Pathol Oncol Res (2024)
Keywords: langerhans cell histiocytosis, case report, histiocytosis, infant, intestine
MeSH terms: Histiocytosis, Langerhans-Cell / diagnosis, Histiocytosis, Langerhans-Cell / drug therapy, Histiocytosis, Langerhans-Cell / pathology, Inflammatory Bowel Diseases / complications, Inflammatory Bowel Diseases / drug therapy, Case Reports, Female, Humans, Infant, Lung / pathology, Prednisone / therapeutic use, Rare Diseases, Prednisone

Background:
Langerhans cell histiocytosis is a rare disease characterized by the abnormal proliferation of Langerhans cells within a single organ or multiple organs. This case report aims to improve the knowledge of the presentation of gastrointestinal Langerhans cell histiocytosis to facilitate the diagnosis and management of this rare disorder.
Case presentation:
A 19-month-old female presented with repeatedly mucinous bloody stools. The abdominal ultrasound revealed a slightly enlarged spleen. The initial colonoscopy revealed chronic enteritis with a very early onset inflammatory bowel disease. After anti-inflammatory treatment without improvement, an intestinal biopsy was performed at The Forth Affiliated Hospital of Zhejiang University. The final intestinal biopsy and histopathology examination confirmed the presence of Langerhans cell histiocytosis. After diagnosis, additional lung and head imaging examinations revealed no abnormalities. Her condition improved gradually after being treated with chemotherapy (vincristine and prednisone) and molecular-targeted drug(dalafinil) treatment.
Conclusion:
The clinical symptoms of Langerhans cell histiocytosis involving the gastrointestinal tract are not specific and may resemble symptoms observed in inflammatory bowel disease and other primary gastrointestinal tumors. Therefore, in cases of infants presenting with inflammatory gastrointestinal symptoms that do not resolve after treatment, a biopsy is essential to obtain a differential diagnosis.
Primary retroperitoneal müllerian adenocarcinoma: a case report
Authors: Xiaohui Feng, Ping Zhang, Feng Gao
Journal: Front Oncol (2024)
Keywords: adenocarcinoma, immunohistochemistry, müllerian tumor, pathology, retroperitoneum
MeSH terms: Case Reports

A 45-year-old woman presented with right hip pain for a month. Imaging results revealed that the left peritoneal mass was accompanied by metastases of the right sciatic branch, lung, and retroperitoneal lymph nodes. A biopsy of the left peritoneal mass was performed. The pathological morphology demonstrated clear cell adenocarcinoma. Immunohistochemical staining revealed a positive expression of keratin7 and PAX8 and a negative expression of keratin20, GCDFP-15, ER, PR, WT1, CDX2, villin, TTF-1, napsin-A, vimentin, calretinin, and GATA3. Finally, the diagnosis of primary retroperitoneal müllerian adenocarcinoma (PRMA) was confirmed. PRMA is a very rare type of primary retroperitoneal tumor. PRMA should be considered for the retroperitoneal mass.
First report of a bla NDM-producing extensively drug resistant Klebsiella pneumoniae ST437 in Italy
Authors: Sofia Chiatamone Ranieri, Vittoria Fabbrizi, Ada Maria D' Amario, Maria Giuseppina Frascella, Valeria Di Biase, Cinzia Di Francesco, Stefania Di Sante, Luigino De Berardis, Massimo De Martinis, Massimo Partenza, Alexandra Chiaverini, Gabriella Centorotola, Cesare Cammà, Francesco Pomilio, Alessandra Cornacchia
Journal: Front Cell Infect Microbiol (2024)
Keywords: klebsiella pneumoniae, new delhi metallo-β-lactamase, carbapenemase-producing pathogen, ceftazidime/avibactam, whole genome sequencing (wgs)
MeSH terms: Anti-Bacterial Agents / pharmacology, Anti-Bacterial Agents / therapeutic use, Drug Resistance, Multiple, Bacterial / genetics, Klebsiella Infections / drug therapy, Klebsiella Infections / microbiology, Klebsiella pneumoniae / drug effects, Klebsiella pneumoniae / enzymology, Klebsiella pneumoniae / genetics, Klebsiella pneumoniae / isolation & purification, Microbial Sensitivity Tests, beta-Lactamases / genetics, beta-Lactamases / metabolism, Case Reports, Aged, 80 and over, Azabicyclo Compounds, Bacterial Proteins / genetics, Bacterial Proteins / metabolism, Ceftazidime / pharmacology, Ceftazidime / therapeutic use, Drug Combinations, Humans, Infection Control, Italy, Male, Whole Genome Sequencing, beta-Lactamases, Anti-Bacterial Agents, beta-lactamase NDM-1, Bacterial Proteins, beta-lactamase CTX-M-15, avibactam, ceftazidime drug combination, Ceftazidime, beta-lactamase OXA-232, Klebsiella pneumoniae, Drug Combinations, Azabicyclo Compounds

Carbapenemase-producing Klebsiella pneumoniae strains (CP-Kps) have recently been observed to spread rapidly worldwide. New Delhi metallo-β-lactamase (NDM) producing clones of Klebsiella pneumoniae (K. pneumoniae) cause a significant healthcare burden, particularly in Indian sub-continent, where this clone is circulating widely. However, in Italy, data on the incidence of these new clones is limited, and an ST437 NDM-producing K. pneumoniae strain has not been reported to date. A sacral ulcer infection caused by a K. pneumoniae strain was identified in an 85-year-old Italian male patient with several comorbidities. Antimicrobial susceptibility testing revealed an extensive resistance to a wide range of antimicrobials, including novel agents such as cefiderocol and ceftazidime/avibactam. Genomic analysis identified the pathogen as an ST437 K. pneumoniae strain harboring bla NDM-5, bla OXA-232 and bla CTX-M-15 genes. Following the identification of this first case, several infection control measures were implemented in healthcare settings, including direct precautions and reinforcement of standard cross-transmission control measures. The emergence of pathogenic microbial clones carrying new genetic determinants, particularly in a little city, requires prompt diagnosis and therapeutic protocols. An effective infection control system for the early detection and/or control of the transmission of NDM-producing Enterobacteriaceae is also needed. Further investigations are required to better understand the potential transmission routes and evolution of these clones.
Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis
Authors: Nikola Gjorgjievski, Vlatko Karanfilovski, Todor Arsov, Pavlina Dzekova Vidimliski, Galisna Severeova Andreevska, Gjulshen Selim, Petar Dejanov, Vasilena Jordanova, Ivelina Marinova, Emil Paskalev, Igor G Nikolov
Journal: Front Genet (2024)
Keywords: fabry disease, x-linked disorder, chronic kidney disease, hemodialysis, α-galactosidase a
MeSH terms: Case Reports

Introduction:
Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and fibrosis.
Case description:
We present the first familial case of Fabry Disease in North Macedonia identified based on clinical manifestations and confirmed through enzyme, biomarker, and genetic tests. The index case in the family was a 45-year-old male undergoing hemodialysis therapy. He has had chronic burning uncontrolled limb pain since childhood, intermittent abdominal cramps, anhidrosis, and hypertension. The constellation of clinical presentations accompanied by similar symptoms in close family members prompted the enzyme, biomarker, and genetic analyses for Fabry disease. Genetic testing identified a known pathogenic GLA missense variant c.443G>A or p.(Ser148Asn) in the hemizygous state. Subsequent family studies allowed identification of another hemizygous male and five heterozygous female carriers affected by this X-linked disorder.
Conclusion:
We report identification of the first familial case of Fabry disease in North Macedonia and describe the phenotype associated with the Ser148Asn GLA variant. Greater awareness of this rare disease linked to continuous medical education is crucial for timely diagnosis and treatment.
Case report: Invasive neuromonitoring in status epilepticus induced hypoxic ischemic brain injury
Authors: Karandeep Singh Bhatti, Swarna Rajagopalan
Journal: Front Neurol (2023)
Keywords: icp monitoring, bilateral decompressive craniectomy, brain tissue oxygen monitoring, continuous eeg monitoring, diffuse cerebral edema, invasive neuromonitoring, refractory intracranial hypertension, refractory status epilepctius
MeSH terms: Case Reports

Objectives:
Literature on invasive neuromonitoring and bilateral decompressive craniectomies (BDC) in patients with refractory status epilepticus (RSE)-mediated hypoxic-ischemic brain injury (HIBI) is limited. Neuromonitoring can guide decision making and treatment escalation.
Methods and results:
We report a case of a 17 years-old male who was admitted to our hospital's intensive care unit for RSE. HIBI was detected on neuroimaging on this patient's second day of admission after he developed central diabetes insipidus (DI). Invasive neuromonitoring revealed raised intracranial pressure (ICP) and brain hypoxia as measured by reduced brain tissue oxygen tension (PbtO2). Treatments were escalated in a tiered fashion, including administration of hyperosmolar agents, analgesics, sedatives, and a neuromuscular blocking drug. Eventually, BDC was performed as a salvage therapy as a means of controlling refractory ICP crisis in the setting of diffuse cerebral edema (DCE) following HIBI.
Discussion:
SE-mediated HIBI can result in refractory ICP crisis. Neuromonitoring can help identify secondary brain injury (SBI), guide treatment strategies, including surgical interventions, and may lead to better outcomes.
Case report: A young man with non-rapid eye movement parasomnias in a KCNT1-related epilepsy family
Authors: Dandan Sheng, Yefan Lv, Xinru Li, Jing Liu, Weiping Liu
Journal: Front Neurol (2023)
Keywords: kcnt1, nrem parasomnias, disorders of arousal, nocturnal frontal lobe epilepsy, sleep-related hypermotor epilepsy
MeSH terms: Case Reports

Differentiating between non-rapid eye movement (NREM) parasomnias and sleep-related hypermotor epilepsy (SHE) is challenging, as they exhibit similar episodes during sleep. A relatively high prevalence of NREM parasomnias has been detected in families with SHE. However, the common pathophysiologic mechanism is not completely clear. There have been no previous reports of KCNT1-related SHE combined with NREM parasomnias. In this report, we describe a 17 years-old male patient from a KCNT1 mutation family who exhibited complex abnormal behaviors during sleep, which have been confirmed as epileptic seizures combined with NREM parasomnias through video-electroencephalogram (vEEG) and video-polysomnography (vPSG). The present article provides a reasoning process to evaluate unusual nocturnal behaviors. Furthermore, our analysis suggests a new potential association between NREM parasomnias and KCNT1 mutations.
Case series on Trichomonas vaginalis infections: impact of proper sample collection and diagnostic stewardship
Authors: Ashwini Agarwal, Abhishek Padhi, Anil Chaudhary, Mayuri Bhise, Kinjal Chauhan, Medhavi Sharma, Ramotra Rohini Krishan, Pankhuri Dubey
Journal: Access Microbiol (2024)
Keywords: stis, trichomonas vaginalis, diagnostic stewardship, sexually transmitted infections
MeSH terms: Case Reports

This paper elucidates the transformative impact of a strategic shift in diagnostic practices in the detection of Trichomonas vaginalis. It explores five cases where the implementation of a specific diagnostic protocol led to effective identification of the infection. In-depth discussions and a comprehensive literature review underline the necessity for precise diagnosis and the paramount importance of diagnostic stewardship in managing sexually transmitted infections.
Severe mpox in patients with advanced AIDS: long-term disease and fatal outcome
Authors: Luís Arthur Brasil Gadelha Farias, Pablo Eliack Linhares de Holanda, Ana Danielle Tavares da Silva, Karene Ferreira Cavalcante, Marina Catunda Pinheiro Jucá, Lauro Vieira Perdigão Neto, Lisandra Serra Damasceno
Journal: Rev Soc Bras Med Trop (2023)
MeSH terms: Acquired Immunodeficiency Syndrome / complications, Mpox (monkeypox) / complications, Case Reports, Brazil, Humans, Viremia / complications

Herein, we report two cases of severe mpox in patients with advanced acquired immunodeficiency syndrome from Brazil who developed atypical lesions and prolonged illness, one of whom had a fatal outcome. Both patients experienced serious complications involving the perianal and genital regions and prolonged disease with persistent viremia.
Sinus metastasis of lung adenocarcinoma: a case report
Authors: Mingyuan Xu, Qi Sun, Xin Lv, Fangjun Chen, Shu Su, Lifeng Wang
Journal: Front Med (Lausanne) (2024)
Keywords: egfr-tki, immune microenvironment, lung adenocarcinoma, next-generation sequencing, sinus metastasis
MeSH terms: Case Reports

Metastatic carcinoma of the paranasal sinuses in lung cancer is an extremely uncommon condition. We report here a 57-year-old female patient with epidermal growth factor receptor (EGFR)-positive stage IV non-small cell lung cancer (NSCLC) with multiple bone metastases. After resistance to second- and third-generation EGFR-tyrosine kinase inhibitors (TKIs), the patient presented with headache accompanied by progressively enlarging lesions of the nasal cavity on CT scan. Further endoscopic sinus neoplasmectomy confirmed sinus metastasis of lung adenocarcinoma. Although subsequent chemotherapy and immunotherapy were both administered, the disease continued to progress, and the patient passed away 21 months after diagnosis. Combined with real-time dynamic next-generation sequencing (NGS) during the different generations of EGFR-TKI treatments and dynamic tumour microenvironment analysis, we discussed the clinical manifestations of sinus metastasis and the molecular biology and tumour immune microenvironment changes after resistance to the second-and third- generation of EGFR-TKI therapy.
Cariprazine and clozapine combination for the treatment of psychosis in a young, female patient with schizophrenia: a case report
Authors: Anzejs Dmuhovskis, Maris Taube
Journal: Front Psychiatry (2024)
Keywords: cariprazine, clozapine, polypharmacy, psychosis, treatment, young female
MeSH terms: Case Reports

The task of a psychiatrist is to select the most appropriate medication or combination of drugs to treat the symptoms of schizophrenia while minimizing the risk of side effects and ensuring the patient achieves the highest level of functioning possible. This is a challenging task as the action of each drug or group of drugs is different. The efficacy of cariprazine, which affects D3 receptors as a D3/D2 receptor partial agonist, has been extensively studied and is one of the first medication choices by practicing psychiatrists when treating patients with negative symptomatology. In this clinical case, we demonstrate the effective and safe treatment of a patient's positive and affective symptoms using a combination of cariprazine, clozapine, and venlafaxine.
Case report: Long-term intracranial effect of zimberelimab monotherapy following surgical resection of high PD-L1-expressing brain metastases from NSCLC
Authors: Weijia Wu, Jinyou Guo, Lianxiang He, Qi Deng, Xianping Huang
Journal: Front Oncol (2024)
Keywords: nsclc, pd-1, pd-l1 positive, brain metastases, immunotherapy
MeSH terms: Case Reports

Non-small cell lung cancer (NSCLC) accounted for the majority of lung cancer cases worldwide. Brain metastases (BM) frequently complicate NSCLC and portend a dismal prognosis. To control neurological symptoms, surgical resection is commonly followed by brain radiotherapy (RT). However, RT is often complicated by neurotoxicity. For patients with tumors that harbor positive driver genes, tyrosine kinase inhibitors are considered the standard of care. Nevertheless, treatment options for those without driver gene mutations are still debated. Programmed death receptor 1 (PD-1)/ligand 1 (PD-L1) inhibition has emerged as a novel therapeutic strategy for NSCLC patients with PD-L1-positive tumors, as well as for those with asymptomatic BM. However, the effect of anti-PD-1 antibodies on active BM within such specific populations is undetermined. Herein we present a case of a 65-year-old patient with NSCLC and high PD-L1-expressing BM. The patient underwent surgical resection of BM followed by first-line monotherapy with 31 cycles of zimberelimab, a novel anti-PD-1 antibody, and has already achieved 24 months of progression-free survival and intracranial recurrence-free survival. To our knowledge, this is the first report regarding the intracranial effect of zimberelimab on BM from primary lung cancer. This case report might facilitate an understanding of the intracranial effects of different anti-PD-1 antibodies for such populations.
Multimodal imaging study of pancreatic myeloid sarcoma: a case report and literature review
Authors: Xianwen Hu, Wenxin Li, Jinyan Tang, Dandan Li, Pan Wang
Journal: Front Oncol (2023)
Keywords: case report, computed tomography, metastasis, myeloid sarcoma, pancreas
MeSH terms: Case Reports

Myeloid sarcoma (MS) is a rare extramedullary parenchymal tumor composed of immature myeloid cells, occurring mainly in the lymph nodes, skin, soft tissue, testicles, bones, peritoneum, and gastrointestinal tract, and rarely in the pancreas. Herein, we report the case of a 68-year-old female patient who visited our hospital for medical assistance due to acute abdominal pain. Abdominal computed tomography (CT) and magnetic resonance imaging showed a mass approximately 8 cm in diameter in the pancreatic tail, which was suspected to be a malignant tumor. To further assess the presence of distant metastases, the patient underwent fluorine-18-fluorodeoxyglucose positron emission tomography (18F-FDG PET)/CT, which revealed an increased 18F-FDG uptake in the corresponding lesions. Subsequently, the patient underwent surgical treatment, and postoperative pathology and immunohistochemistry revealed that the mass was MS. Moreover, we reviewed the clinical features, imaging findings, and histopathology of pathologically confirmed pancreatic MS in the published literature.
Case report: ALK-positive histiocytosis presented as bilateral synchronous breast masses with long-term remission on crizotinib
Authors: Yuhang Zhou, Marisabel Hurtado-Castillo, Om Pandey
Journal: Front Med (Lausanne) (2023)
Keywords: alk1, brain, breast, crizotinib, histiocytosis
MeSH terms: Case Reports

ALK-positive histiocytosis (APH) is a rare type of histiocytic neoplasm with characteristic ALK (Anaplastic Lymphoma Kinase) gene translocation and fusion, with only 27 reported cases in the literature. In this study, we report the first case of synchronous bilateral breast involvement of ALK-positive histiocytosis on initial presentation in a 46-year-old Hispanic woman. APH was diagnosed by the confirmation of clonal histiocyte proliferation with ALK overexpression on IHC and the presence of KIF5B-ALK gene fusion from her breast and lung biopsies. The patient in our study is currently under complete and long-term remission with crizotinib treatment (an ALK inhibitor). This report expands on the clinical manifestation of APH, emphasizes the importance of ALK detection in histiocytic diseases, and provides the efficacy and long-term prognosis of the ALK inhibitor therapy for APH.
A case report of pulmonary atresia with intact ventricular septum: an extraordinary finding of subsystemic right ventricle
Authors: Gang Luo, Ai Liu, Hongxiao Sun, Kuiliang Wang, Silin Pan
Journal: Front Pediatr (2024)
Keywords: case report, echocardiography, fetus, pulmonary atresia with intact ventricular septum, tricuspid regurgitation
MeSH terms: Case Reports

Background:
Massive tricuspid regurgitation (TR) is the most common feature of pulmonary atresia with intact ventricular septum (PA/IVS), and mild or absent TR is observed in severe right ventricular (RV) dysplasia or RV-to-coronary fistulous connections, resulting in non-biventricular (BV) outcomes postnatally.
Case summary:
We report a case of fetal severe pulmonary stenosis with IVS diagnosed at 26 weeks of gestation. The severity of RV hypoplasia did not worsen or reach indications for intrauterine intervention, while the jet velocity of TR decreased significantly during pregnancy. The fetus was definitely diagnosed with PA/IVS with mild RV dysplasia after birth. Unusually, the fetus did not experience severe TR and myocardial sinusoids, the TR jet velocity was maintained at 2.0 m/s, and the coronary artery was almost normal. The incapable RV cannot pump blood into pulmonary circulation after RV decompression from valvular perforation and balloon dilation. It may be an extraordinary finding of subsystemic RV.
Conclusion:
PA/IVS is a heterogeneous disease with various degrees of RV dysplasia. Mild or no baseline TR is a reliable indicator with non-BV outcomes for fetal PA/IVS, even with acceptable dysplasia RV structures.
Chronic Widespread Spinal Pain (CWSP) Alleviated With Chiropractic Biophysics®: A Case Report With Three-Year Follow-Up
Authors: Jason W Haas, Miles Fortner, Paul A Oakley, Thomas J Woodham, Deed E Harrison
Journal: Cureus (2024)
Keywords: abnormal spine alignment, cbp® rehabilitation, chronic widespread pain (cwsp), harrison posterior tangent method, spine trauma and disease
MeSH terms: Case Reports

The aim of this case report is to provide clinicians with an option for the treatment of spine pain, spine disorders caused or complicated by abnormal spine alignment, and failed prior interventions for pain and suffering with a conservative protocol. Multi-decade chronic widespread pain (CWSP), low back pain (LBP) headache (HA), and neck pain (NP) cause significant disability and reduced quality of life across all socio-economic and societal categories. Treatment options for decades-old long-term pain with good outcomes are uncommon with non-surgical and surgical interventions. Herein is a single case of positive outcomes with Chiropractic BioPhysics® (CBP®)protocol and long-term follow-up. A 60-year-old male with a lifting injury working on a farm at age 12 suffered for decades with LBP, mid-back pain (MBP), NP, HAs, radiculopathy, and poor health-related quality of life (HRQoL). Prior over-the-counter (OTC) medications with diminishing results over 48 years were reported. The patient had multiple abnormal patient-reported outcomes (PROs) as well as measured postural and spine structural abnormalities at the initial assessment. Following 12 treatments, PROs and other measures improved dramatically. Continued brief treatment showed continued progress followed by no treatment beyond continued home exercises and home postural orthoses. All subjective and objective outcome measures improved at one-year follow-up and remained long-term. Improvements in sagittal and coronal postural balance with improved spine alignment, better PROs, and measurably improved HRQoLs were found at one- and three-year follow-ups from the initial evaluation. Chronic NP, LBP, MBP, and extremity pain with altered sensation, loss of function, and failed drug therapy are common across the globe and combined represent the greatest contributors to disability and the global burden of disease (GBD). Economic, efficacious, repeatable, and reliable methods for treating pain will reduce GBD and improve PROs. Larger studies of CBP® methods for multi-decade chronic pain are challenging; however, continued case reports and RCTs for similar conditions are warranted.