OpenMed/multicare-articles huggingface dataset:
Surgical treatment of primary hepatic neuroendocrine tumor diagnosed by Al18F-NOTA-Octreotide PET/CT: a case report
Authors: Zhongyan Zhang, Hehe Li
Journal: Front Med (Lausanne) (2023)
Keywords: pet/ct, phnets, [18f]alf-oc, case report, diagnosis, hepatic primary neuroendocrine tumor, surgical resection
MeSH terms: Case Reports

Neuroendocrine tumors (NETs) are a heterogeneous group of tumors originating from peptide-producing neurons and neuroendocrine cells. The liver is the most common site of metastasis for NETs, while primary hepatic neuroendocrine tumors (PHNETs) are exceedingly rare. While somatostatin receptor scintigraphy (SRS) has demonstrated superior efficacy compared to [18F]FDG PET imaging in the diagnosis of neuroendocrine tumors, [18F]AlF-NOTA-Octreotide ([18F]AlF-OC) PET/CT also exhibits specific advantages over SRS. This article presents a case study of a patient with a liver mass who underwent sequential [18F]FDG and [18F]AlF-OC PET/CT scans, ruling out hepatocellular carcinoma and confirming the diagnosis of PHNETs. Subsequently, the patient underwent surgical treatment. From another perspective, [18F]AlF-OC exhibits distinct advantages. The postoperative pathology revealed a PHNETs, which further emphasizes its clinical rarity.
A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry
Authors: Annelien Marcelis, Evelyne Van Reet
Journal: Case Rep Psychiatry (2024)
Keywords: kif11 protein, attention deficit disorder with hyperactivity, autism spectrum disorder, case report, chorioretinal dysplasia microcephaly mental retardation syndrome, lymphoedema, microcephaly
MeSH terms: Case Reports

Kinesin family member 11 (KIF11)-associated disorder, a rare condition caused by autosomal dominant mutations in the KIF11 gene, presents with microcephaly, chorioretinal dysplasia, lymphoedema, and varying degrees of intellectual disability. While intellectual disability is often described in the literature on KIF11 mutations, autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are only mentioned by a few authors but not thoroughly investigated. We present a case report of an 8-year-old boy with KIF11-associated disorder alongside ADHD and ASD but without intellectual disability. Genetic testing confirmed a KIF11 mutation. Cognitive, language, and motor assessments revealed delays in fine motor skills and attention deficits. The diagnosis of ADHD was confirmed by a child neurologist through multidisciplinary investigations, while the ASD diagnosis was established by a child psychiatrist. Despite the challenges of delayed psychiatric assessment, interventions including physiotherapy and medication management were initiated with positive results. We designed a parent support group survey that showed a higher prevalence of neurodevelopmental disorders in children with KIF11 mutations compared to the general population. Therefore, low-threshold referrals to a child psychiatrist have to be made when the potential presence of developmental problems is suspected. Collaboration between ophthalmologists, paediatricians, and child psychiatrists is crucial for early detection and intervention. Addressing developmental disorders promptly improves long-term outcomes and enhances quality of life. Moreover, gaining a deeper understanding of the higher prevalence of ASD and ADHD in individuals with KIF11 mutations could offer valuable insights into the genetic mechanisms underlying neurodevelopmental disorders.
Case Report: A rare transthyretin mutation p.D58Y in a Chinese case of transthyretin amyloid cardiomyopathy
Authors: Jibin Lin, Jiangtong Peng, Bingjie Lv, Zheng Cao, Zhijian Chen
Journal: Front Cardiovasc Med (2024)
Keywords: amyloid, case report, genetics, mutation, transthyretin amyloid cardiomyopathy
MeSH terms: Case Reports

Hereditary transthyretin amyloid (ATTRv) cardiomyopathy (CM) is caused by mutations in the TTR gene. TTR mutations contribute to TTR tetramer destabilization and dissociation, leading to excessive deposition of insoluble amyloid fibrils in the myocardium and finally resulting in cardiac dysfunction. In this article, we report a case of a Chinese patient with transthyretin mutation p.D58Y and provide detailed information on cardiac amyloidosis, including transthoracic echocardiography, cardiac magnetic resonance, and SPECT imaging for the first time. Our report aims to provide a better understanding of ATTR genotypes and phenotypes.
Facial Neuropathy Revealed: A Case Report on Trigeminal Schwannoma
Authors: Emeka Emedike, Azzam Alnughaythir, Naif Alsayed, Ahlam Alharbi, Bader Alotibi
Journal: Cureus (2024)
Keywords: facial numbness, magnetic resonance imaging, neuropathy, schwannoma, trigeminal nerve
MeSH terms: Case Reports

Trigeminal schwannomas, rare tumors originating from Schwann cells of the trigeminal nerve, present unique diagnostic challenges due to their infrequent occurrence. The clinical manifestation of facial numbness and tingling necessitates a comprehensive approach for accurate diagnosis and optimal management. We present the case of a 45-year-old female who presented with a six-month history of progressive facial numbness localized to the left maxillary and mandibular regions. Intermittent sharp, shooting pain exacerbated by chewing and cold stimuli was reported. Physical examination revealed sensory deficits in left trigeminal nerve distribution. Magnetic resonance imaging confirmed a well-circumscribed, enhancing lesion along the left trigeminal nerve. Surgical excision of the tumor confirmed the diagnosis of schwannoma. This case underscores the significance of a detailed clinical history, advanced imaging, and collaboration between neurologists and neurosurgeons in achieving an accurate diagnosis and favorable outcome for trigeminal schwannomas. The successful surgical intervention, coupled with histopathological confirmation, contributes to the understanding of these rare tumors.
Paralytic ileus in a patient on clozapine therapy showing an inverted clozapine/norclozapine ratio after switching valproic acid to carbamazepine: a case report
Authors: Geke van Weringh, Leonieke van Koolwijk, Lieuwe de Haan, Daan J Touw, Mariken B de Koning
Journal: Ther Adv Psychopharmacol (2024)
Keywords: carbamazepine, case report, clozapine, clozapine/norclozapine ratio, fluvoxamine, paralytic ileus, pharmacokinetic drug interaction, valproic acid
MeSH terms: Case Reports

This case report examines the possible correlation between the clozapine/norclozapine ratio and the occurrence of constipation and paralytic ileus. We present the case of a 42-year-old patient diagnosed with schizoaffective disorder undergoing clozapine therapy. Despite intensive treatment with clozapine, haloperidol, valproic acid and biweekly electroconvulsive therapy sessions for over a year, florid psychotic symptoms and fluctuating mood swings persisted. Therefore, valproic acid was replaced by carbamazepine, a potent inducer of several CYP450-enzymes. To maintain clozapine plasma levels, fluvoxamine, a CYP1A2-inhibitor, was introduced at a dose of 25 mg before this switch. After addition of carbamazepine, there was a significant decline in clozapine levels, necessitating an increase in fluvoxamine dosage to 50 mg. Five weeks later the patient was admitted to a general hospital with a diagnosis of paralytic ileus. Treatment with enemas proved effective. Drug concentration analysis revealed a 2.5-fold increase in norclozapine levels in the weeks preceding hospital admission, resulting in an inverted clozapine/norclozapine ratio. Treatment with clozapine, carbamazepine and fluvoxamine was continued as the patient demonstrated clinical improvement on carbamazepine. Concurrently, an intensive laxative regimen was initiated. Two weeks later, the patient was readmitted to the general hospital due to suspected paralytic ileus and faecal vomiting, once again displaying an inverted clozapine/norclozapine ratio. We discuss potential mechanisms contributing to the occurrence of the paralytic ileus in this patient, including the antagonism of muscarinic M3 receptors by both clozapine and norclozapine, as well as the agonism of delta-opioid receptors by norclozapine. This case highlights the potential significance of both the clozapine/norclozapine ratio and absolute norclozapine levels as risk factors for constipation and paralytic ileus in patients on clozapine therapy.
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India
Authors: Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur
Journal: Case Rep Genet (2024)
MeSH terms: Case Reports

Intellectual disability (ID) is seen in around 2.5% of global population and can vary from mild to severe and profound ID. There can be multiple affected family members if it is inherited, though many autosomal dominant ID cases would be due to de novo mutations are very less likely to recur in families. A confirmatory diagnosis is facilitated by genetic testing like chromosomal microarray and next generation sequencing. We describe here our cohort of 15 patients: children and adolescents with ID diagnosed by using sequencing technologies and parental segregation studies. Most of the variants identified were de novo variants and consistent with sporadic occurrence, and blended phenotypes were identified. Appropriate genetic counseling was performed and options for prenatal diagnosis were discussed. Thus, advanced sequencing technologies enable identification of likely causative de novo variants associated with intellectual disability and dysmorphism.
Case report: Roxadustat overdose in an anemia patient of chronic kidney disease: insight beyond insignificant consequence
Authors: Long-Guang Zhang, Xue-Juan Ma, Xiang-Yang Li
Journal: Front Nephrol (2024)
Keywords: anemia, chronic kidney disease, hypoxia-inducible factor, prolyl hydroxylase inhibitor, roxadustat
MeSH terms: Case Reports

A 71-year-old man with a 20-year history of grade 3 hypertension experienced kidney dysfunction 2 years earlier. His serum creatinine (SCr) at the time was 140 μmol/L [with estimated glomerular filtration rate (eGFR) of 43.9 ml/min per 1.73m2], for which he received irbesartan since. At initial presentation, the spot urine dipstick protein was 1+, with an albumin-to-creatinine ratio of 230 mg/g (0-30) and normal urine sediments. The SCr was 176 μmol/L (eGFR = 32.8 ml/min per 1.73m2). The hemoglobulin (Hb) level decreased from 102 to 96 g/L despite oral ferrous succinate 100 mg twice daily starting 2 months ago. Roxadustat (ROXA) 50 mg (body weight, 70 kg) three times weekly was then prescribed. Unfortunately, the patient mistakenly took the drug at 50 mg three times a day (i.e., 1,050 mg instead of the intended 150 mg per week), which was 3.5 times the recommended starting dose for non-dialysis-dependent chronic kidney disease (CKD) patients (100 mg three times weekly for body weight >60 kg) and two times the highest drug manual-recommended weekly dose (2.5 mg/kg three times weekly) approved in the country. When the attending nephrologist discovered the misuse 1 month later, the patient reported no apparent discomfort, and his home blood pressure was in the range 110-130/60-80 mmHg. Repeat blood tests showed that the Hb increased from 96 to 163 g/L and the SCr from 199 to 201 μmol/L in a month. The serum alanine transaminase (ALT) remained within the normal range (from 12 U/L at baseline to 20 U/L), while the serum total and indirect bilirubin levels were slightly elevated. ROXA was withheld immediately. In 30 days, the serum bilirubin returned to baseline, but the Hb decreased from 163 to 140 g/L, and then to 108 g/L after 3 months. On the other hand, the SCr increased from 179 to 203 μmol/L. At 9 months after the initial dosing, when the SCr increased to 256 μmol/L and the Hb decreased to 94 g/L again, ROXA 50 mg three times weekly was reinitiated uneventfully. Herein, by introducing a case who erroneously consumed twice the highest recommended dose of ROXA for a month, but had apparently no obvious discomfort or unfavorable consequence, we attempt to provide a brief overview of the mechanism of action, characteristics, drug metabolism, and side effect profile associated with this agent.
Case report: Response to tepotinib in Chinese non-small cell lung cancer patients harboring METex14 skipping with varying features
Authors: Yan Meng, Weiping Zhou, Chenping Li, Xiangjie Zhou, Xiao Li, Liang Li, Qiye Fu, Jue Huang, Yali Yue, Xuguang Shen, Lijing Yang, Meiqing Wang
Journal: Front Oncol (2024)
Keywords: met tki, metex14, case series, lung cancer, tepotinib
MeSH terms: Case Reports

MET exon 14 (METex14) skipping is the most reported MET mutation in non-small cell lung cancer (NSCLC) and has been confirmed to respond to MET tyrosine kinase inhibitors (TKI) in clinical trials. While MET TKI tepotinib was recently approved for METex14 skipping NSCLC in China, real-world evidence is limited. We report our experience treating NSCLC patients referred from oncology sites across China with tepotinib in the Boao Lecheng Pilot Zone. Four patients have been prescribed the drug with a median age of 67 years (range, 61-71 years). One patient has concomitant BRAF V600E mutation, and another patient had savolitinib as first line of therapy but discontinued due to hepatotoxicity. Till the end of follow-up, four patients were all on tepotinib therapy, with a median duration of therapy of 19 months. One patient achieved partial response and three achieved stable disease. Three patients had peripheral edema, but all were mild. Our experience showed in real clinical setting, tepotinib had robust and durable clinical activity and a favorable toxicity profile in Chinese patients with METex14 skipping NSCLC. It is the first report on the effectiveness of tepotinib in a patient with both METex14 skipping and BRAF V600E mutations and successful MET inhibitor switch after MET inhibitor-induced liver injury.
Robotic-Assisted Thoracic Surgery Approach to Thoracic Endometriosis Syndrome with Unilateral Diaphragmatic Palsy
Authors: Abiah Jacob, Adeyemi Coker, Steven Aleksandar Stamenkovic
Journal: Case Rep Surg (2023)
MeSH terms: Case Reports

Endometriosis is characterized by endometrial-like glands and stroma outside the uterine cavity, affecting women of reproductive age. Thoracic endometriosis syndrome (TES) is an entity producing a range of clinical and radiological manifestations, including catamenial pneumothorax, haemothorax, haemoptysis, and pulmonary nodules within the thoracic cavity or on the diaphragm. TES symptoms are nonspecific, warranting a high degree of clinical suspicion. Management includes hormone replacement therapy, surgical management, or a combination of both. We present a case of a 37-year-old woman who presented with TES and unilateral diaphragmatic palsy, managed with robotic-assisted thoracoscopic surgery and hormone replacement.
New-onset or flare-up of bullous pemphigoid associated with COVID-19 vaccines: a systematic review of case report and case series studies
Authors: Aref Ghanaatpisheh, Mohadesseh Safari, Hoda Haghshenas, Ali Motamed-Sanaye, Amir Homayoun Atefi, Karo Kamangarpour, Mohammad Aref Bagherzadeh, Amirhossein Kamran-Jahromi, Mohammad Darayesh, Navid Kouhro, Amir Reza Bahadori, Mohammad Ali Esfandiari
Journal: Front Med (Lausanne) (2024)
Keywords: covid-19, covid-19 vaccines, bullous pemphigoid, flare-up, new-onset
MeSH terms: Systematic Review

Background:
Numerous cutaneous manifestations have been associated with the Coronavirus Disease 2019 (COVID-19) outbreak and vaccination, but new-onset bullous pemphigoid (BP) or flaring up of pre-existing BP is a rare side effect of COVID-19 vaccines that has been mentioned to a lesser extent in the literature. Therefore, we aimed to conduct a systematic review focused on the association between the new- onset or flare-up of BP and the COVID-19 vaccination.
Method:
A comprehensive literature search was conducted using PubMed (MEDLINE), Scopus, and the Web of Science databases up to 11 March 2023. The search aimed to identify English-language studies reporting new-onset or flare-ups of BP as a potential side effect of the COVID-19 vaccination. The search terms included bullous pemphigoid and COVID-19 vaccination-related MeSH terms.
Results:
The systematic review of 40 articles investigating the incidence of BP in individuals who received various COVID-19 vaccines revealed pertinent findings. Among the 54 patients with new-onset BP, the median age was 72.42 years, and most were men (64%). Conversely, the median age of the 17 patients experiencing a flare-up of BP was 73.35 years, with a higher proportion of women (53%). Regarding vaccination types, a significant number of patients (56%) developed new-onset BP after receiving the BNT162b2 vaccine (Pfizer-BioNTech).
Conclusion:
This study indicates a potential association between COVID-19 vaccinations, particularly mRNA vaccines, and the occurrence of BP. It suggests that this rare autoimmune disorder may be triggered as an adverse event following the COVID-19 vaccination. However, it is important to note that the majority of BP patients in our study were unaffected by the COVID-19 vaccine, and even those who experienced worsening of their conditions were managed without significant consequences. These findings provide additional evidence supporting the safety of COVID-19 vaccines. Physicians should be mindful of this uncommon adverse event and encourage patients to complete their planned vaccination schedules.
Approach to Diagnosis of TFE3-rearranged Renal Cell Carcinoma in a Limited Resource Setting: A Case Report
Authors: Allison Kaye Lombridas Pagarigan, Pamela Delos Reyes-Murillo, Dennis Jose Sienes Carbonell
Journal: J Kidney Cancer VHL (2024)
Keywords: tfe3 rearrangement, xp112 translocation, immunohistochemistry, kidney tumor, renal cell carcinoma
MeSH terms: Case Reports

This report recounts the diagnostic workup of a pediatric female who presented with hematuria secondary to a large renal mass visualized on abdominal imaging. Histologic assessment and subsequent immunohistochemistry studies were performed. Intense, unequivocal immunohistochemical expression of TFE3 and alpha-methylacyl-CoA-racemase with corresponding negativity for carbonic anhydrase IX, along with highly distinctive clinical, radiologic, gross, and microscopic findings confirmed the diagnosis of a renal cell carcinoma with TFE3 gene rearrangement - the first ever reported case in the Philippines. This case highlights the vital role and significant diagnostic impact of reliable, affordable and accessible immunohistochemistry studies in low-resource settings where molecular modalities for evaluating rare diseases are largely unavailable. Recognition of distinctive morphologic, immunohistochemical, and cytogenetic features in childhood and adolescent renal malignancies allows for the timely institution of therapeutic interventions for this aggressive entity.
Disitamab Vedotin plus anti-PD-1 antibody show good efficacy in refractory primary urethral cancer with low HER2 expression: a case report
Authors: Yue Zheng, Yin-Yin Xue, Ya-Qin Zhao, Ye Chen, Zhi-Ping Li
Journal: Front Immunol (2023)
Keywords: her2, pd-1 inhibitor, advanced primary urethral carcinoma, antibody drug conjugate, immunotherapy
MeSH terms: Immunoconjugates, Urethral Neoplasms / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Humans, Immune Checkpoint Inhibitors, disitamab vedotin, Immune Checkpoint Inhibitors, Immunoconjugates

Primary urethral carcinoma (PUC) has a low incidence, but with high aggressiveness. Most of the patients are found in late stage, with poor prognosis. At present, chemotherapy is still the main treatment for metastatic PUC, but it has limited effect. Here, we report a case of metastatic PUC with low HER2 expression that developed disease progression after multiline therapy including chemotherapy, programmed death-1 (PD-1) inhibitors and multi-targeted receptor tyrosine kinase (RTK) inhibitor. After receiving Disitamab Vedotin(a novel antibody drug conjugate, ADC) and toripalimab (a PD-1 inhibitor), the patient achieved persistent PR, and the PFS exceeded 12 months up to now. Our report indicates that, despite the patient of metastatic PUC has low expression of HER2, it is still possible to benefit from Disitamab Vedotin combined with PD-1 inhibitor, which may reverse the drug resistance of PD-1 inhibitor and chemotherapy to a certain extent. But larger sample studies are needed to determine the efficacy of this treatment strategy and its impact on survival.
Mesh Extraction Surgery and Laser Treatment for Pain After Mid-Urethral Sling Surgery: A Case Series
Authors: Nobuo Okui, Machiko Aurora Okui
Journal: Cureus (2024)
Keywords: complications, laser therapy, mesh extraction, mid-urethral sling, pain, stress urinary incontinence
MeSH terms: Case Reports

Stress urinary incontinence (SUI) is the leakage of urine due to abdominal pressure. The primary surgical approach involves the insertion of a mid-urethral sling (MUS) with a mesh, which can occasionally lead to post-operative pain. To address complications, MUS removal is often necessary. We hypothesize that a non-ablative erbium:yttrium aluminum garnet (Er:YAG) laser combined with vagina (vaginal erbium laser (VEL)) and urethra (urethra erbium laser (UEL)) treatments could be a post-MUS removal option. A study involving laser treatment started in 2016 for women with recurrent SUI one year after MUS removal who were not affected by pelvic floor muscle exercises and who did not wish to have MUS reinsertion or urethral injection treatment. Five patients (mean age, 54.5 ± 9.35 years) were enrolled, all receiving laser therapy. The visual analog scale (VAS) was used to assess pain as a primary endpoint, and the one-hour pad test was performed for SUI as a secondary endpoint. The mean pain VAS score changed from 8.57 ± 0.69 to 2.29 ± 1.50 (p = 0.00002) after MUS removal. Furthermore, the VAS score was 0 (p = 0.0034) after VEL + UEL. SUI changed from 4.42 ± 2.9 g on the one-hour pad test during MUS insertion to 66.7 ± 39.0 (p = 0.005) after removal. However, after the VEL + UEL treatment, it was 3.71 ± 5.25 g (p = 0.0035). The pathological tissue collected from the five patients at the time of MUS removal surgery had vacuolization in the part where the artificial material was present in the specimen, with foreign-body giant cells proliferated around it. One year after the MUS removal, mucous membrane regeneration was poor, and tissue thickness was thin. One year after the VEL + UEL treatment, the tissue had normalized mucosa, and there was no inflammation. Our study suggests MUS extraction and VEL + UEL as viable options for treating MUS pain in women.