OpenMed/multicare-articles huggingface dataset:
Recurrent laryngeal nerve monitoring by flexible laryngoscopy during thyroid radiofrequency ablation in the awake patient
Authors: Marsida Teliti, Antonio Occhini, Rodolfo Fonte, Laura Croce, Benedetto Calì, Federica Antonella Ripepi, Andrea Carbone, Mario Rotondi, Spyridon Chytiris
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: bilateral, flexible laryngoscope, radiofrequency ablation, recurrent laryngeal nerve, thyroid nodule
MeSH terms: Laryngoscopy / methods, Radiofrequency Ablation / adverse effects, Radiofrequency Ablation / methods, Recurrent Laryngeal Nerve Injuries / etiology, Recurrent Laryngeal Nerve Injuries / prevention & control, Case Reports, Adult, Female, Humans, Monitoring, Intraoperative / methods, Recurrent Laryngeal Nerve / surgery, Thyroid Gland / surgery, Thyroid Nodule / surgery, Wakefulness

Objective:
Although radiofrequency ablation (RFA) is a safe and effective non-surgical treatment for benign thyroid nodules, injury to the recurrent laryngeal nerve (RLN), is a potential and feared complication. Intermittent voice checks have been proposed to monitor vocal cord (VC) function during RFA, but such assessment is highly subjective and effort-dependent.
Methods:
We are here reporting the methodological use of flexible laryngoscopy (FL) for VC monitoring during bilateral thyroid RFA treatment. The patient, a 35-year-old woman, was referred to the Endocrinology Unit for subclinical hyperthyroidism due to bilateral autonomously functioning thyroid nodules.
Results:
At the end of the treatment of the first nodule, the FL performed by an otorhinolaryngologist specialist allowed evaluating VC function and ruling out possible paralysis before proceeding with the contralateral RFA treatment. The patient was awake during the entire procedure and well tolerated the laryngoscopic examination. The TSH serum evaluations performed one month and 9 months after the procedure assessed an euthyroid state (TSH 3.2 mIU/L and 2.8 mIU/L, respectively).
Conclusion:
During bilateral thyroid RFA the use of FL for VC monitoring treatment resulted in a safe, easy-to-perform, and effective strategy to minimize and anticipate RLN injury risk in the awake patient. The prevention of RLN damage is advisable in the case of single RFA treatment, while it should be strongly recommended when RFA is performed on bilateral nodules.
Case Report: The first report of PPP2R1A mutations in mesonephric-like adenocarcinoma of endometrial carcinoma
Authors: Lei Cai, Chenmin Yang, Yijin Gu, Lei Dong, Weiwei Feng
Journal: Front Oncol (2023)
Keywords: ppp2r1a, endometrial carcinoma, endometrium, mesonephric-like adenocarcinoma, targeted sequencing
MeSH terms: Case Reports

We performed clinical treatment, histopathology, immunohistochemistry and molecular analyses. To compare with the published literature and have a reference overview. A 57-year-old woman and a 77-year-old woman presented with mesonephric-like adenocarcinoma of endometrium at an early clinical stage. The former had no deep myometrial infiltration and no regional lymph node involvement. The latter had deep myometrial infiltration, presence of LVSI and no regional lymph node involvement. Both of the tumor cells were positive for PAX8, GATA-3,CD-10,TTF-1,AE1/AEs,Ki67,P53 and P16 in immunohistochemical staining (IHC)Test. Primary tumors were examined for gene mutations by next generation sequencing. The former was identified KRAS mutation. The latter had KRAS,PIKCA and PPP2R1A mutations. To our knowledge, it is the first time that PPP2R1A(protein phosphatase 2,regulatory subunit A,α) mutation in MLA is reported in English literature.
An Offenders-Offenses Shared Component Spatial Model for Identifying Shared and Specific Hotspots of Offenders and Offenses: A Case Study of Juvenile Delinquents and Violent Crimes in the Greater Toronto Area
Authors: Jane Law, Abu Yousuf Md Abdullah
Journal: J Quant Criminol (2024)
Keywords: bayesian, juvenile delinquents, offenders-offenses shared patterns, shared component spatial modeling, violent crime

Objectives:
We attempted to apply the Bayesian shared component spatial modeling (SCSM) for the identification of hotspots from two (offenders and offenses) instead of one (offenders or offenses) variables and developed three risk surfaces for (1) common or shared by both offenders and offenses; (2) specific to offenders, and (3) specific to offenses.
Methods:
We applied SCSM to examine the joint spatial distributions of juvenile delinquents (offenders) and violent crime (offenses) in the York Region of the Greater Toronto Area at the dissemination area level. The spatial autocorrelation, overdispersion, and latent covariates were adjusted by spatially structured and unstructured random effect terms in the model. We mapped the posterior means of the estimated shared and specific risks for identifying the three risk surfaces and types of hotspots.
Results:
Results suggest that about 50% and 25% of the relative risks of juvenile delinquents and violent crimes, respectively, could be explained by the shared component of offenders and offenses. The spatially structured terms attributed to 48% and 24% of total variations of the delinquents and violent crimes, respectively. Contrastingly, the unstructured random covariates influenced 3% of total variations of the juvenile delinquents and 51% for violent crimes.
Conclusions:
The Bayesian SCSM presented in this study identifies shared and specific hotspots of juvenile delinquents and violent crime. The method can be applied to other kinds of offenders and offenses and provide new insights into the clusters of high risks that are due to both offenders and offenses or due to offenders or offenses only.
Progression of Myocardial 18F-FDG Uptake in a Patient with Cardiotoxicity
Authors: Diego Rafael Freitas Berenguer, Monica de Moraes Chaves Becker, Roberto de Oliveira Buril, Paula Araruna Bertão, Brivaldo Markman Filho, Simone Cristina Soares Brandão
Journal: Arq Bras Cardiol (2024)
MeSH terms: Heart Failure / chemically induced, Heart Failure / diagnostic imaging, Lymphoma, Case Reports, Letter, Adult, Cardiotoxicity / diagnostic imaging, Cardiotoxicity / etiology, Female, Fluorodeoxyglucose F18 / metabolism, Humans, Positron Emission Tomography Computed Tomography / methods, Retrospective Studies, Stroke Volume, Ventricular Function, Left, Fluorodeoxyglucose F18

The objective of this case report was to present the progression of chemotherapy-induced cardiotoxicity in a patient with lymphoma, highlighting the importance of myocardial fluor-18-fluorodeoxyglucose (18F-FDG) uptake by positron emission tomography coupled with computed tomography (PET/CT). 43-year-old female patient with uterine lymphoma, who underwent hysterectomy followed by three chemotherapy regimens and radiotherapy. The patient had episodes of acute heart failure two years after chemotherapy. Echocardiogram revealed a reduction in left ventricular ejection fraction (LVEF). A retrospective analysis of 18F-FDG PET/CT showed an increase in myocardial uptake in all tests performed during oncologic treatment. Despite disease remission, the patient developed heart failure with reduced LVEF. During chemotherapy, there was a diffuse, significant increase in myocardial 18F-FDG uptake, which preceded the decrease in myocardial performance and seemed to reflect metabolic changes in cardiomyocytes, related to cardiotoxicity. Would an analysis of myocardial 18F-FDG uptake yield a different cardiac outcome in this patient? This question is relevant, considering that other patients may benefit from the use of PET as an early marker of cardiotoxicity. Imaging tests are essential in the follow-up of patients at risk of cardiotoxicity. Although echocardiography remains the main imaging test in the diagnosis of cardiotoxicity, 18F-FDG PET/CT may be a powerful tool for the early diagnosis of this condition.
First Description of Novel End-Organ Effects by Speed Modulation Using the Aortix™ Device
Authors: Ajay Bhandari, Alden Dunham, Emmanuel Bassily, Bibhu D Mohanty, Robby Wu
Journal: Case Rep Cardiol (2024)
MeSH terms: Case Reports

Aortix™ is a novel percutaneous mechanical circulatory support device designed to facilitate diuresis in patients with cardiorenal syndrome. We describe for the first time the development of end-organ hypoperfusion from excess blood acceleration at the nominal setting and demonstrate through temporal-perfusion marker curves, the potential for speed modulation to optimize results. This will inform future device development and investigation of patient-specific device titration.
Case report: A patient with Delayed Sleep-Wake Phase Disorder and Optic Nerve Hypoplasia treated with tasimelteon: a case study
Authors: Sandra P Smieszek, Alyssa R Kaden, Caroline E Johnson, Jennifer L Brzezynski, Changfu Xiao, Christos M Polymeropoulos, Gunther Birznieks, Helene A Emsellem, Mihael H Polymeropoulos
Journal: Front Neurosci (2023)
Keywords: delayed sleep-wake phase disorder, optic nerve hypoplasia, biological rhythms, circadian rhythm disorders, clinical trials research, delayed sleep, night owl, sleep/wake mechanisms
MeSH terms: Case Reports

We present a case of an adult female diagnosed with Delayed Sleep-Wake Phase Disorder (DSWPD) and Optic Nerve Hypoplasia (ONH), with a confirmed delayed Dim Light Melatonin Onset (DLMO), who reports the inability to fall asleep at their desired bedtime and obtain adequate sleep nightly, despite the ability to have a full night's sleep when not required to be up at a specific time for societal requirements. The participant was enrolled in an 11-month Open-Label Extension (OLE) following the randomized portion of a clinical study and was successfully treated with tasimelteon. DSWPD symptoms were resolved, and their previously delayed sleep-wake cycle was advanced.
Clinical trial registration:
https://clinicaltrials.gov/ct2/show/NCT04652882, identifier NCT04652882.
Case report: Headache as the sole neurological symptom in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy
Authors: Eslam Shosha, Colleen Connolly, Adrian Budhram
Journal: Front Neurol (2024)
Keywords: gfap, astrocytopathy, glial fibrillary acidic protein, headache, meningoencephalitis
MeSH terms: Case Reports

Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy is a recently emerging autoimmune disease of the central nervous system (CNS); GFAP astrocytopathy is characterized by optic neuritis and meningoencephalomyelitis. We report the case of a 55-year-old man, otherwise healthy, who presented with isolated headaches for three months, without other features of meningoencephalitis or myelitis. His neurological examination and fundoscopy were unremarkable. Gadolinium-enhanced brain MRI demonstrated increased T2 hyperintensity within the right sub-lenticular basal ganglia, with additional leptomeningeal enhancement along the bilateral perisylvian regions and mesial temporal lobes. Cerebrospinal fluid (CSF) analysis showed lymphocytic pleocytosis, elevated protein, matching oligoclonal bands, and a negative infectious and cytological workup. Cell-based assays for anti-aquaporin-4, anti-myelin oligodendrocyte glycoprotein, autoimmune encephalitis panel, and vasculitis workup were all negative, except for CSF positivity for GFAP α antibody. Oncological screening, including CT of the chest, abdomen, pelvis, and scrotal US, was unremarkable. Immunotherapy with high-dose intravenous steroids for five days and subsequent single four-weekly doses resulted in the resolution of both clinical and radiographic features, with a maintained status 24 months after onset. This case highlights isolated headache and basal ganglia, mesial temporal lobe involvement as a rare presentation of autoimmune GFAP astrocytopathy.
Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review
Authors: Fengji Cui, Tuoya Wulan, Qian Zhang, Victor Wei Zhang, Yuhua Jiang
Journal: Front Genet (2024)
Keywords: dee, katp channel, kcnt2, epilepsy, intellectual disability
MeSH terms: Case Reports

Background: Developmental and epileptic encephalopathies (DEEs) are a group of heterogeneous neurodevelopmental diseases characterized mainly by developmental delay/intellectual disability and early-onset epilepsy. Researchers have identified variations in the KCNT2 gene (OMIM* 610044) as the cause of DEE type 57 (MIM# 617771). Case presentation: We report in this study a 46-year-old woman who presented with early-onset epilepsy, intellectual disability, hypertrichosis, coarse facial features, and short stature. Besides, there were four other affected individuals in her family history, including two elder brothers, a younger brother, and their mother. We collected blood samples from the proband, her two affected brothers, and her clinically normal daughter for genetic analysis. Clinical exome sequencing revealed a novel heterozygous variant in the KCNT2 gene (NM_198503: c.188G>A, p.Arg63His) in the proband and her two affected brothers, while her daughter did not carry this variant. Furthermore, we reviewed all 25 patients identified in the literature with KCNT2 variants and compared their phenotypes. Conclusion: Epilepsy and intellectual disability/developmental delay occur in almost all patients with KCNT2 variants. KCNT2-relevant DEEs partially overlap with the clinical phenotypes of KATP channel diseases, particularly in hypertrichosis and distinctive coarse facial features.
Deciphering the puzzle: a case report of Tjalma syndrome (pseudo-pseudo Meigs' syndrome) with profoundly elevated CA-125 and pleural effusion
Authors: Qing Tan, Li Feng Xu, Ting Yan, Cheng Hui Huang, Yi Tao, Wen Hui Huang, Shui Lian Yu
Journal: Front Immunol (2023)
Keywords: ca-125, tjalma syndrome, pleural effusion, pseudo-pseudo meigs’ syndrome, systemic lupus erythematosus
MeSH terms: Lupus Erythematosus, Systemic / complications, Lupus Erythematosus, Systemic / diagnosis, Lupus Erythematosus, Systemic / drug therapy, Meigs Syndrome / complications, Meigs Syndrome / diagnosis, Meigs Syndrome / drug therapy, Pleural Effusion / diagnosis, Pleural Effusion / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Adult, Ascites / diagnosis, Ascites / etiology, Female, Humans

Elevated CA-125 levels, polyserous effusions (such as pleural effusion, ascites, etc.) in young women with systemic lupus erythematosus (SLE) may signal pseudo-pseudo Meigs' syndrome (PPMS), after excluding other causes. We describe a 32-year-old SLE patient with recurrent bilateral pleural effusions and unexplained hypercalcemia for 10 months. Extensive evaluations revealed no infections or tumors. Cytokine analysis showed elevated interleukin (IL) levels, especially IL-6 in pleural effusion. Treatment with immunosuppressive therapy resulted in reduced cancer antigen (CA) 125 levels and decreased effusion volume, demonstrating a positive response to intervention in this case of PPMS.
Mesenteric Arteriovenous Dysplasia/Vasculopathy: Deciphering a Rare, Deceptive, Diagnostic Dilemma
Authors: Sudhakar Ramamoorthy, Inuganti Venkata Renuka, Vaddatti Tejeswini, Amulya Boddapati
Journal: Cureus (2024)
Keywords: fibromuscular dysplasia, mesenteric arteriovenous dysplasia/vasculopathy, mesenteric ischemia, smooth muscle collarette, vasculopathy
MeSH terms: Case Reports

Mesenteric arteriovenous dysplasia/vasculopathy (MAVD/V) is an exceedingly rare noninflammatory vascular disorder affecting small-calibre mesenteric arteries and veins. This report details a case of a 51-year-old male diagnosed with MAVD/V following abdominal pain and vomiting. Surgical exploration revealed distinctive smooth muscle collarette around subserosal arteries and veins. The rarity of this condition, with only 13 cases reported globally, underscores the importance of recognizing this rare entity to prevent misdiagnosis. Surgical resection remains the curative approach, ensuring a disease-free state after surgery. Awareness of MAVD/V is crucial for accurate diagnosis and avoiding unnecessary prolonged management.
Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome
Authors: Antonia M Stehr, Thomas Koeglsperger, Maureen Jacob, Valerio Rhodio, Juliane Winkelmann, Franziska Hopfner, Michael Zech
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: ankrd11, kbg syndrome, combined tremor syndrome, tremor
MeSH terms: Repressor Proteins / genetics, Tremor / genetics, Tremor / physiopathology, Case Reports, Abnormalities, Multiple, Bone Diseases, Developmental / complications, Bone Diseases, Developmental / diagnosis, Bone Diseases, Developmental / genetics, Bone Diseases, Developmental / physiopathology, Facies, Female, Frameshift Mutation, Humans, Intellectual Disability / genetics, Intellectual Disability / physiopathology, Male, Microcephaly / complications, Microcephaly / genetics, Microcephaly / physiopathology, Tooth Abnormalities / genetics, Tooth Abnormalities / physiopathology, Young Adult, ANKRD11 protein, human, Repressor Proteins, KBG syndrome

Background:
KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in ANKRD11. A recent single-case study suggested that the clinical spectrum of KBG syndrome, classically defined by distinctive craniofacial traits and developmental delay, may include movement disorders.
Case report:
We report a 24-year-old patient harboring a pathogenic de novo ANKRD11 frameshift variant. The phenotype was dominated by a progressive tremor-dominant movement disorder, characterized by rest, intention and postural tremor of the hands, voice tremor, head and tongue tremor, increased muscle tone and signs of ataxia. Additionally, the patient had a history of mild developmental delay and epilepsy.
Discussion:
Adding to the recently described individual, our present patient highlights the relevance of movement disorders as a clinically relevant manifestation of KBG syndrome. ANKRD11 pathogenic variants should be considered in the differential diagnosis of combined tremor syndromes.
Surgical Management of Severe Mandibular Actinomycosis: Segmental Mandibulectomy and Fibula Free Flap for Optimal Outcomes
Authors: Paula Maria Leite, Carolina F Chaves, Bruno Morgado, Horácio Zenha, Horácio Costa
Journal: Cureus (2024)
Keywords: actinomyces, actinomycosis, fibular free flap, free flap reconstruction, mandible
MeSH terms: Case Reports

Actinomycosis is a chronic, suppurative, granulomatous bacterial infection primarily associated with Actinomyces israelii. The condition can be categorized into three distinct clinical types based on the affected anatomical region: cervicofacial, pulmonary, or abdominopelvic actinomycosis. The standard treatment for actinomycosis involves antibiotic therapy, with an empiric penicillin regimen as the first-line approach. Surgical interventions comprise curettage of the affected bone, resection of necrotic tissues, excision of existing sinus tracts, and drainage of abscesses. These procedures are considered a last resort for cases of actinomycosis unresponsive to antibiotic therapy. In this context, we present a case of severely unresponsive actinomycosis that necessitated aggressive surgical resection of the infected mandibular bone, followed by immediate reconstruction using a fibula-free flap. The outcome yielded both favorable functional and aesthetic results.
Case report: Male genital system, soft tissue and myocardial metastases in a patient with exon 11-mutated GIST of unknown origin
Authors: Michele Rota, Federico Sganzerla, Michele Zuffante, Andrea Mafficini, Michele Pavarana, Michele Milella
Journal: Front Oncol (2024)
Keywords: gist, case report, exon 11 mutation, imatinib, metastases
MeSH terms: Case Reports

Gastrointestinal stromal tumors (GISTs) are the most frequent mesenchymal tumors of the gastrointestinal tract, usually arising in the stomach or in the small bowel. Most GISTs are diagnosed early due to the presence of symptoms (e.g., abdominal discomfort/pain, anemia, etc.); at times, diagnosis could be incidental (e.g., ultrasound or endoscopic examinations performed for other reasons, surgical intervention for a different disease, etc.). Diagnosis occurs when the tumor is already metastatic in 10-20% of cases. The most common metastatic sites are liver, peritoneum, and loco-regional lymph nodes. Here, we present the case of a male patient with an atypical presentation of disease: as a matter of fact, during his oncological history, he developed metastases in unlikely sites, such as penis, scrotum, myocardium, and soft tissues.
Development of Calvarial Bone Osteomyelitis in a Noonan Syndrome Patient Following Fronto-Orbital Advancement of Craniosynostosis: A Novel Technique of Treatment Using Povidone and Hydrogen Peroxide Solutions
Authors: Ikhlass S Altweijri, Taghreed R Alhumsi, Abdullah S Alsahli, Faisal A Al Jabr, Dana W Alkuwaity
Journal: Cureus (2024)
Keywords: craniosynostosis, fronto-orbital advancement, noonan syndrome, novel technique, osteomyelitis
MeSH terms: Case Reports

This is a case of a pediatric patient with Noonan syndrome (NS) and craniosynostosis who developed calvarial bone osteomyelitis following corrective surgery. Despite complications, such as postoperative bleeding and infections, including osteomyelitis, multidisciplinary management strategies were employed, including antibiotics, debridement, and novel use of hydrogen peroxide and povidone solutions due to bone thinning. The discussion highlights challenges in managing syndromic craniosynostosis, emphasizing the importance of tailored approaches and prophylactic antibiotics. The innovative treatment approach using hydrogen peroxide and povidone presents a potential alternative for bone infections and osteomyelitis post-cranial reconstruction, offering insights for future management strategies. Lessons learned regarding infection rates and novel treatment modalities contribute to evolving approaches in managing complications in syndromic craniosynostosis.
Novel Heterozygous Missense Variants in Diacylglycerol Kinase Epsilon and Complement Factor I: Potential Pathogenic Association With Atypical Hemolytic Uremic Syndrome
Authors: Omar K Abughanimeh, Muhamed Baljevic, Alex Nester
Journal: Cureus (2024)
Keywords: ahus, atypical hemolytic uremic syndrome, cfi, dgke, thrombotic microangiopathy (tma)
MeSH terms: Case Reports

Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy (TMA), which copresents with microangiopathic hemolytic anemia, thrombocytopenia, and kidney injury. While typical HUS is normally preceded by infections such as Shiga-toxin-producing Escherichia coli, atypical HUS (aHUS) has a genetic component that leads to dysregulation of the alternative complement pathway. We report a case of a 69-year-old female who developed aHUS after undergoing an elective knee surgery. Genetic testing revealed novel mutations affecting diacylglycerol kinase epsilon (DGKE) protein and complement factor I (CFI) that were not reported before as pathogenic. The patient was treated with eculizumab, leading to the complete resolution of TMA with no lasting organ damage.
Primary squamous cell carcinoma and adenocarcinoma simultaneously occurring in the same lung lobe: a case report and literature review
Authors: Tianyu Zhang, Ruyuan He, Yongguang Xiao, Qing Geng
Journal: Front Oncol (2024)
Keywords: lung adenocarcinoma, lung squamous cell carcinoma, multiple primary lung cancer, same lobe, simultaneous multiple primary lung cancer
MeSH terms: Case Reports

The co-occurrence of distinct lung cancer types within the same lobe is an exceedingly rare phenomenon. Here, we present a unique case wherein primary invasive squamous cell carcinoma and invasive adenocarcinoma concurrently manifested in the identical lung lobe. Additionally, we provide a comprehensive overview of the diagnosis and treatment approaches for multiple primary lung cancers, along with highlighting existing challenges based on the most recent guidelines. Our case underscores the importance of sampling each lesion individually, conducting separate diagnostic procedures, and determining the histological subtype for effective treatment planning irrespective of their location or size.