OpenMed/multicare-articles huggingface dataset:
Cerebral venous thrombosis caused by spontaneous intracranial hypotension due to spontaneous spinal cerebrospinal fluid leakage in the high cervical region: a case report
Authors: Man Li, Yi Li, Liwen Tai, Hui Li, Li Qing Wang, Yue Li Zou, Wen Feng Feng, Yue Liu, Xiaopeng Liu, Jun Ying He
Journal: Front Neurol (2023)
Keywords: cerebral venous thrombosis, epidural blood patch, low cranial pressure, spontaneous cerebrospinal fluid leak, spontaneous intracranial hypotension
MeSH terms: Case Reports

Spontaneous intracranial hypotension (SIH) may lead to cerebral venous thrombosis (CVT). This case report describes the diagnostic and treatment processes used for a patient with CVT caused by SIH due to spontaneous spinal cerebrospinal fluid (CSF) leakage in the high cervical region. Clinical data were collected from a 37-year-old man with an initial symptom of spontaneous posterior cervical pain. The diagnostic and treatment processes of SIH-induced CVT were described. A magnetic resonance imaging (MRI) study showed superior sagittal sinus thrombosis, and a lumbar puncture revealed a low initial CSF pressure of less than 60 mmH2O. The patient underwent anticoagulation and fluid rehydration therapies. No abnormalities were observed in the thoracic MRI scan, but a cervical MRI scan revealed a spontaneous CSF leak. An epidural blood patch with autologous blood was performed, and symptoms completely resolved 3 days after the procedure. This report proposes a diagnostic procedure for detecting rare cases of SIH-induced CVT, thereby preventing future misdiagnoses and delayed treatment. When a patient presenting with CVT in conjunction with intracranial hypotension has no history of trauma or piercing, SIH caused by spontaneous spinal CSF leakage should be considered as a potential cause of secondary low intracranial pressure. For detection of CSF leaks at rare sites, an MRI of the whole spine rather than a localized MRI of the spine needs to be performed to avoid misdiagnosis. An epidural blood patch should be performed as soon as possible as it may shorten the length of hospitalization and improve prognosis.
Case report: Remarkable response to later-line surufatinib in an adult patient with liver metastatic of pancreatoblastoma
Authors: Qingqing Leng, Wanrui Lv, Heqi Yang, Xiaofen Li, Weiya Wang, Ke Cheng, Chen Chang, Dan Cao
Journal: Front Pharmacol (2024)
Keywords: adult patient, disitamabvedotin, liver metastasis, pancreatoblastoma, surufatinib
MeSH terms: Case Reports

Pancreatoblastoma (PB), a neoplasm derived from pancreatic follicular cells, primarily affects the pediatric population. Although infrequent in adults, it is associated with a considerably worse prognosis. Approximately one-third of patients are diagnosed with metastatic disease, with liver metastases being the most prevalent. Diagnosis relies on histopathological alterations including squamous vesicles, positive staining for CK8/CK18/CK19, and nuclear displacement of β-catenin. Additionally, liver metastases demonstrate substantial enhancement during the arterial phase of a contrast-enhanced computed tomography (CT) scan. Surgical resection serves as the principal therapeutic approach for addressing primary lesions and liver metastatic PB. In instances where surgical intervention is not viable, patients may derive benefits from systemic therapy and radiotherapy. This particular case report presents the clinical details of a 27-year-old female patient diagnosed with PB, who subsequently developed multiple liver metastases following a pancreaticoduodenectomy. Genomic examinations revealed the presence of ERBB2 amplification, RAD54L deletion, low TMB-L, and MSS in the patient. Despite the patient undergoing chemotherapy and Her-2 targeted therapy in conjunction with immunotherapy, no reduction in lesion size was observed until the administration of surufatinib. Subsequently, a notable outcome ensued, where the metastatic lesions were effectively excised via surgical intervention. Surufatinib has demonstrated a progression-free survival (PFS) of no less than 14 months, and the patient's survival has endured for a duration of 33 months. This indicates the potential efficacy of surufatinib as a viable therapeutic alternative for adult patients afflicted with PB.
Case report: The use of metagenomic next-generation sequencing to diagnose Lemierre's syndrome caused by lost root canal fillings in a 33-year-old patient with metabolic syndrome
Authors: Yimeng Zhou, Yongzhen Zhai, Yan Wang, Dan Zhang, Guohe Feng
Journal: Front Med (Lausanne) (2024)
Keywords: fusobacterium necrophorum, lemierre’s syndrome, case report, mngs, metabolic syndrome, odontogenic infection
MeSH terms: Case Reports

Background:
Lemierre's syndrome is a rare and serious complication of pharyngitis with an estimated annual incidence of 1 in 100,000 people worldwide. It is characterized by septic thrombophlebitis of the internal jugular vein with metastatic infection, usually after oropharyngeal infection. Rare cases of Lemierre's syndrome have been reported to be caused by odontogenic infection.
Case report:
A 33-year-old male visited our hospital with symptoms of fever and sore throat for 16 days. The other symptoms included pain in his left neck and shoulder. In addition, metabolic syndrome was diagnosed based on waist circumference, diabetes, and hyperlipidemia. Fusobacterium necrophorum bacteria was detected using the metagenomic next-generation sequencing (mNGS) technique. The enhanced computerized tomography (CT) scan showed thrombosis of the left proximal jugular vein and brachiocephalic vein. Based on these observations, Lemierre's syndrome was diagnosed. The etiology was that the fillings in the root canal tooth were lost with no blood or pain about 2 weeks before the onset. The patient recovered after treatment with antibiotics and blood purification.
Conclusion:
Lemierre's syndrome should be evaluated for patients with fever, sore throat, and neck pain. If the loss of fillings from root canal therapy occurs, especially for those with metabolic syndrome, we should be aware of the possibility of this disease. Furthermore, the mNGS test can be used as a crucial supplementary diagnostic tool for patients with undetermined fever.
Tacrolimus Ointment in Periorbital Atopic Dermatitis
Authors: Mazen Alzahrani, Yumna F Kamal, Muhammad A Akram
Journal: Cureus (2024)
Keywords: atopic dermatitis, immunomodulatory, topical corticosteroid, topical tacrolimus, vernal keratoconjunctivitis (vkc)
MeSH terms: Case Reports

Periorbital atopic dermatitis (AD) is a common sign in ophthalmological practice and usually has a persistent and relapsing course. Treatment with topical corticosteroids has various side effects associated with their usage. Tacrolimus topical ointment has unique immunomodulatory properties that decrease skin inflammation and pruritus in AD. In this case series, we present a prospective case series of five patients (three males and two females) who received topical application of tacrolimus ointment 0.1-0.03% in the periorbital area twice daily for one to four weeks. The pre- and post-treatment images of all patients were recorded to compare the effects of the treatment. The cases were selected from patients attending the outpatient clinics of East Jeddah Hospital, Saudi Arabia. All patients were suffering from AD. Patients underwent a clinical assessment by tactile inspection (location, size, color, and surface condition) in the first week, secondweek, third month, and first year. We may conclude from this study that tacrolimus showed promising outcomes and is safe and effective for the treatment of flares or resistant periorbital AD in both adults and children.
Case report: Prenatal diagnosis in the fetus of a couple with both thalassemia and deafness genes
Authors: Youqiong Li, Liang Liang, Jinping Bai, Lihong Zheng, Ting Qin
Journal: Front Genet (2023)
Keywords: deafness, expanded carrier screening (ecs), hearing loss (hl), prenatal screening, thalassemia
MeSH terms: Case Reports

Background: Prenatal diagnosis and genetic counseling play an important role in preventing and controlling birth defects. No reports were found of prenatal diagnosis of couples carrying both the thalassemia and deafness genes. In this study, we presented the prenatal screening and diagnosis of a couple with both thalassemia and deafness genes, contributing to better genetic counseling. Case Report: A couple visited our hospital for a routine prenatal examination. As required by the policy in our region, they underwent screening and genetic diagnosis for thalassemia. Meanwhile, they did not accept the recommendation to test for spinal muscular atrophy and deafness genes. The female was confirmed to be a Hb Quong Sze (Hb QS) carrier (αQSα/αα, βN/βN), and the male had Hb H disease combined with β-thalassemia (--SEA/αCSα, βCDs41-42 (-TTCT)/βN). A prenatal diagnosis of the fetus revealed a Hb CS heterozygote. Subsequent complementary testing showed that the male was a double heterozygote of the GJB2 gene c.299_300delAT combined with c.109G>A, and Sanger sequencing confirmed that the female was a carrier of c.508_511dup in the GJB2. Fortunately, the chorionic villi results indicated that the fetus was only a carrier of deafness. Conclusion: Since both partners carried thalassemia and deafness genes, the couple required prenatal diagnosis for the respective mutations. Expanded carrier screening (ECS) is a more advanced technology that can detect multiple disease genes simultaneously.
KIAA1549-BRAF Gene Fusion Spindle Cell Sarcoma With Infantile Fibrosarcoma-Like Pattern in a Pediatric Patient: A Case Report
Authors: Rawan A Abualola, Tariq Al-Zaid
Journal: Cureus (2024)
Keywords: cytogenetics, fibrosarcoma, infantile, kiaa1549-braf, mesenchymal, pediatric, sarcoma, spindle cell
MeSH terms: Case Reports

Spindle cell sarcoma with KIAA1549-BRAF fusion is a type of childhood sarcoma that closely resembles infantile fibrosarcoma by morphologic criteria and harbors molecular alteration other than the ETV6-NTRK3 fusion gene. This neoplasm was diagnostically challenging without molecular tests, including next-generation sequencing. The discovery of BRAF translocation in this tumor contributes to the promise of the clinical implication of selecting new therapeutic options for the treatment of progressive diseases that are refractory to conventional chemotherapy. Here we present the case of a three-year-old girl who was diagnosed with spindle cell sarcoma with KIAA1549-BRAF fusion gene and had a favorable outcome three years after surgery.
Utilizing logistic regression to compare risk factors in disease modeling with imbalanced data: a case study in vitamin D and cancer incidence
Authors: Mohammad Meysami, Vijay Kumar, McKayah Pugh, Samuel Thomas Lowery, Shantanu Sur, Sumona Mondal, James M Greene
Journal: Front Oncol (2023)
Keywords: 25-hydroxyvitamin d, cancer incidence, imbalanced data, randomized controlled trial, undersampling

Imbalanced data, a common challenge encountered in statistical analyses of clinical trial datasets and disease modeling, refers to the scenario where one class significantly outnumbers the other in a binary classification problem. This imbalance can lead to biased model performance, favoring the majority class, and affecting the understanding of the relative importance of predictive variables. Despite its prevalence, the existing literature lacks comprehensive studies that elucidate methodologies to handle imbalanced data effectively. In this study, we discuss the binary logistic model and its limitations when dealing with imbalanced data, as model performance tends to be biased towards the majority class. We propose a novel approach to addressing imbalanced data and apply it to publicly available data from the VITAL trial, a large-scale clinical trial that examines the effects of vitamin D and Omega-3 fatty acid to investigate the relationship between vitamin D and cancer incidence in sub-populations based on race/ethnicity and demographic factors such as body mass index (BMI), age, and sex. Our results demonstrate a significant improvement in model performance after our undersampling method is applied to the data set with respect to cancer incidence prediction. Both epidemiological and laboratory studies have suggested that vitamin D may lower the occurrence and death rate of cancer, but inconsistent and conflicting findings have been reported due to the difficulty of conducting large-scale clinical trials. We also utilize logistic regression within each ethnic sub-population to determine the impact of demographic factors on cancer incidence, with a particular focus on the role of vitamin D. This study provides a framework for using classification models to understand relative variable importance when dealing with imbalanced data.
Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism
Authors: Bryan K Ward, Kirsten A Loffell, John P Walsh, Warwick D Howe, Suzanne J Brown, Scott G Wilson
Journal: Case Rep Endocrinol (2024)
MeSH terms: Case Reports

Background:
Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH) are common causes of hypercalcaemia. Patients are mostly asymptomatic in the case of FHH and often so in the case of PHPT. In addition, biochemical parameters show considerable overlap, making differential diagnosis difficult. Genetic screening for inactivating variants in the calcium-sensing receptor (CASR) gene that are causative of FHH assists with the diagnosis since such variants are not generally associated with PHPT. However, novel CASR variants must undergo functional assessment before they can be definitively assigned a causative role in FHH. Case Presentations. We describe a 73-year-old female (patient A) who presented with mild parathyroid hormone (PTH)-dependent hypercalcaemia and a history of osteoporosis. Family history revealed that her sister (patient B) had presented a decade earlier with symptoms of PHPT including a history of mild hypercalcaemia and multiple renal calculi, prompting parathyroid surgery. However, a subtotal parathyroidectomy did not resolve her hypercalcaemia long term. On this basis, genetic screening was performed on patient A. This identified a heterozygous variant in the CASR, NM_000388.4:c.T101C: p.Leu34Pro (L34P). Functional analysis showed that the L34P variant was unable to produce mature, dimerized receptor and did not respond to Ca++ ions. Adopting American College of Medical Genetics-based guidelines, the variant was classified as 'Pathogenic (II)'. Patient B was subsequently found to carry the L34P variant heterozygously, confirming a diagnosis of FHH, not PHPT.
Conclusion:
This study shows the importance of examining patient's family history in providing clues to the diagnosis in isolated cases of hypercalcaemia. In this case, history of a sister's unsuccessful parathyroidectomy prompted genetic screening in a patient who might otherwise have undergone inappropriate parathyroid surgery. Screening detected an inactivating CASR variant, firming up a diagnosis of FHH. These studies reaffirm the requirement for functionally assessing novel CASR variants prior to assigning causality to FHH.
A bolt from the blue in a testicular mass - continuous Splenogonadal fusion with maturation arrest
Authors: Thotadamane Nagaraja Chandrashekhar, Priyadharshini Bargunam, Ragashree Apparasanahalli Siddalingamurthy
Journal: Autops Case Rep (2023)
Keywords: continuous variant, splenogonadal fusion, maturation arrest, orchiectomy, testicular mass
MeSH terms: Case Reports

Splenogonadal fusion is an infrequent cause of testicular or scrotal swelling with less than 250 cases reported. We report the case of a 27-year-old male who presented with painless scrotal swelling. The sonography showed a homogeneous, well-encapsulated left extratesticular mass, which was surgically removed. The gross examination revealed a grey-brown tissue below the left testis. The microscopy of the grey-brown mass revealed splenic tissue, and the testis showed maturation arrest, resulting in the diagnosis of splenogonadal fusion. These can be easily mistaken for a tumor, especially in this age group. Reporting such an entity increases awareness among clinicians, radiologists and pathologists, which will aid in preventing an orchiectomy for these patients.
Uncommon association: Pseudomonas luteola bacteremia in an immunocompetent individual with acute tonsillitis - A case report
Authors: Sirine Ahmad, Ahmad J Alzahrani, Mohammed Alsaeed
Journal: IDCases (2023)
Keywords: acute tonsillitis, bacteremia, pseudomonas luteola
MeSH terms: Case Reports

Pseudomonas luteola, formerly known as Chryseomonas luteola, is an infrequently encountered aerobic gram-negative bacterium. While it has been identified as a potential human bacterial pathogen, its connection to specific clinical conditions remains limited. Here, we present an exceptional case of a 27-year-old immunocompetent man with acute tonsillitis, who developed P. luteola bacteremia. This unique correlation, not extensively documented in previous studies, sheds light on the potential pathogenicity of P. luteola in patients with acute tonsillitis.
A Rare Association of Epstein-Barr Virus and Budd-Chiari Syndrome
Authors: Eli A Zaher, Mohamed A Ebrahim, Parth Patel, Shayet Hossain Eshan, Muhammad Sohaib Alvi
Journal: Cureus (2024)
Keywords: antiphospholipid antibody syndrome (aps), budd-chiari syndrome, epstein barr virus (ebv), mrcp imaging, thrombosis
MeSH terms: Case Reports

Budd-Chiari syndrome (BCS) is a rare hepatic venous outflow obstruction typically associated with hypercoagulable states. We present a unique case of a 29-year-old male with BCS triggered by a recent Epstein-Barr virus (EBV) infection. Workup unveiled antiphospholipid antibody syndrome as an underlying prothrombotic condition. Diagnostic challenges included inconclusive ultrasound findings, necessitating magnetic resonance imaging for confirmation. This case underscores the importance of considering infectious triggers for venous thromboembolism in BCS. Understanding the potential link between EBV and thrombosis warrants further investigation.
Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Combination Caused by Epstein-Barr Virus Infection
Authors: Beatriz Sousa Nunes, Catarina Gouveia, Paula Kjollerstrom, João Farela Neves
Journal: Cureus (2024)
Keywords: autoimmune hemolytic anemia, epstein–barr virus, hemophagocytic syndrome, infectious mononucleosis, pediatrics
MeSH terms: Case Reports

Autoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent with cold AIHA plus concomitant HLH. The patient was treated with corticosteroids and acyclovir, with an uneventful recovery. Although rare, cold agglutinin syndrome and HLH can complicate infectious mononucleosis and should be considered in a patient with clinical deterioration. Corticosteroids are the mainstay treatment of HLH and may be beneficial in infection-associated cold agglutinin syndrome.
Case report: Ultrasound-guided median nerve electrical stimulation on functional recovery of hemiplegic upper limb after stroke
Authors: Rui Li, Ping Zhang, Jingyi Lu, Jianlin Zhuang, Meiqi Wang, Hongmei Fang, Xiaowei Zhang, Ying Gao, Zhufen Yang, Kai Ling Chin
Journal: Front Neurol (2023)
Keywords: hemiplegic upper limb, median nerve electrical stimulation, motor function recovery, stroke, ultrasound guidance
MeSH terms: Case Reports

Background:
Functional restoration of hemiplegic upper limbs is a difficult area in the field of neurological rehabilitation. Electrical stimulation is one of the treatments that has shown promising advancements and functional improvements. Most of the electrical stimulations used in clinical practice are surface stimulations. In this case, we aimed to investigate the feasibility of a minimally invasive, ultrasound-guided median nerve electrical stimulation (UG-MNES) in improving the upper limb motor function and activity of a patient with right-sided hemiparesis.
Case presentation:
A 65-year-old male recovering from a left massive intracerebral hemorrhage after open debridement hematoma removal had impaired right limb movement, right hemianesthesia, motor aphasia, dysphagia, and complete dependence on his daily living ability. After receiving 3 months of conventional rehabilitation therapy, his cognitive, speech, and swallowing significantly improved but the Brunnstrom Motor Staging (BMS) of his right upper limb and hand was at stage I-I. UG-MNES was applied on the right upper limb for four sessions, once per week, together with conventional rehabilitation. Immediate improvement in the upper limb function was observed after the first treatment. To determine the effect of UG-MNES on long-term functional recovery, assessments were conducted a week after the second and fourth intervention sessions, and motor function recovery was observed after 4-week of rehabilitation. After completing the full rehabilitation course, his BMS was at stage V-IV, the completion time of Jebsen Hand Function Test (JHFT) was shortened, and the scores of Fugl-Meyer Assessment for upper extremity (FMA-UE) and Modified Barthel Index (MBI) were increased. Overall, the motor function of the hemiplegic upper limb had significantly improved, and the right hand was the utility hand. Electromyography (EMG) and nerve conduction velocity (NCV) tests were normal before and after treatment.
Conclusion:
The minimally invasive, UG-MNES could be a new alternative treatment in stroke rehabilitation for functional recovery of the upper limbs.
Variants of SLC39A4 cause acrodermatitis enteropathica in Tibetan, Yi, and Han families in Sichuan region of southwestern China: a case report series
Authors: Zhongtao Li, Sheng Wang
Journal: Front Med (Lausanne) (2024)
Keywords: slc39a4, tibetan, acrodermatitis enteropathica, normal serum zinc, pustule
MeSH terms: Case Reports

Acrodermatitis enteropathica (AE, OMIM 201100) is a rare autosomal recessive dermatosis characterized by periorificial dermatitis, diarrhea, alopecia, and hypozincaemia due to pathogenic variants of SLC39A4. Herein, we present a case series describing four unrelated patients with AE from Han, Yi, and Tibetan ethnicities in Sichuan region of southwestern China, speculate the hotspot variants of SLC39A4 causing AE in Sichuan region and highlight physicians should be alerted to unusual presentations of AE, such as the absence of hypozincaemia and the presence of acne-like lesions. Serum alkaline phosphatase and genetic testing should be considered to accurately evaluate the zinc deficiency in human body and help make the correct diagnosis.