OpenMed/multicare-articles huggingface dataset:
A case report navigating CVID and sarcoidosis overlaps in pediatric nephritis
Authors: Amanda Salih, Amanda Brown, Amanda Grimes, Sana Hasan, Manuel Silva-Carmona, Leyat Tal, Joud Hajjar
Journal: Front Pediatr (2024)
Keywords: cvid, glild, granulomatous disease, granulomatous lymphocytic interstitial lung disease, hypogammaglobulinemia, sarcoidosis
MeSH terms: Case Reports

Common variable immunodeficiency (CVID) can be complicated by granulomatous disease, often granulomatous lymphocytic interstitial lung disease (GLILD). Granulomatous interstitial nephritis represents an atypical presentation in pediatrics. Our patient is a previously healthy 13-year-old white male with a recent diagnosis of CVID. He presented with a rash and laboratory findings included pancytopenia (white blood cells 2.6 cells × 103/μl, hemoglobin 11.8 g/dl, platelets 60 × 103/μl), hypercalcemia (14.9 mg/dl), elevated Vit D 1,25 OH level (>200 pg/ml), hyperuricemia (8.8 mg/dl), and acute kidney injury (AKI) (serum creatinine 1.1 mg/dl; baseline 0.64 mg/dl). A broad infectious workup was unremarkable. The rash improved with empiric doxycycline. Hypercalcemia and hyperuricemia were managed with fluid resuscitation, calcitonin, and zoledronic acid. Evaluation for malignancy including a positron emission tomography scan, revealed multiple mediastinal hypermetabolic lymph nodes and pulmonary ground glass opacities, later reported as small pulmonary nodules by computed tomography (CT). Splenomegaly was confirmed by ultrasound and CT. Peripheral smear, bone marrow biopsy, and genetic testing were non-revealing. His angiotensin-converting enzyme level was elevated (359 U/L), raising concerns for sarcoidosis. Given Stage 1 AKI, a renal biopsy was pursued and identified non-caseating granulomatous interstitial nephritis. Treatment with 60 mg of prednisone began for presumed sarcoidosis for 4 months, causing steroid-induced hypertension and mood changes. Zoledronic acid minimally reduced serum creatinine. Pneumocystis jirovecii pneumonia prophylaxis was initiated due to T-cell cytopenia. Chest CT findings showed a suboptimal response to steroids. A bronchoalveolar lavage demonstrated >50% lymphocytes (normal <10%) and the lung biopsy exhibited non-caseating granulomas, indicating GLILD. Rubella was identified by staining. Following a fever, he was found to have elevated liver enzymes and confirmed hepatitis with portal hypertension on CT. A liver biopsy revealed epithelioid non-caseating granuloma and HHV6 was detected by PCR. He was treated with four cycles of rituximab and granulocyte-colony stimulating factor for persistent neutropenia. Subsequent treatment with mycophenolate led to the resolution of the granulomatous lesions and cytopenias. The rare complication of granulomatous interstitial nephritis in CVID illustrates the intricate nature of diagnosis. This case underscores the necessity for a holistic view of the patient's clinical and immune phenotype, including distinctive radiological presentations, for precise diagnoses and tailored management of CVID.
Esophageal schwannoma mimicking non-functional parathyroid adenoma on 99mTc-sestamibi imaging: a case report
Authors: Roberto Fiore, Edwige Gombert, Stefano La Rosa, Vincent Dunet, Gerasimos P Sykiotis, François Gorostidi
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: case report, parathyroid, schwannoma, sestamibi, single-photon emission computed tomography/computed tomography
MeSH terms: Adenoma / diagnosis, Adenoma / diagnostic imaging, Adenoma / metabolism, Adenoma / pathology, Neurilemmoma / diagnosis, Neurilemmoma / diagnostic imaging, Neurilemmoma / pathology, Parathyroid Neoplasms / diagnosis, Parathyroid Neoplasms / diagnostic imaging, Parathyroid Neoplasms / pathology, Parathyroid Neoplasms / surgery, Technetium Tc 99m Sestamibi, Case Reports, Adult, Diagnosis, Differential, Esophageal Neoplasms / diagnosis, Esophageal Neoplasms / diagnostic imaging, Esophageal Neoplasms / pathology, Esophageal Neoplasms / surgery, Female, Humans, Radiopharmaceuticals, Single Photon Emission Computed Tomography Computed Tomography, Technetium Tc 99m Sestamibi, Radiopharmaceuticals

Technetium-99m sestamibi single-photon emission computed tomography/computed tomography (99mTc-sestamibi SPECT/CT) is a mainstay of the pre-operative localization of parathyroid lesions. We report here the case of a 30 year-old woman with a fortuitously discovered 2 cm cervical mass for which a parathyroid origin was originally suspected due to its retro-thyroidal localization and a personal history of nephrolithiasis. Normal serum calcium and parathyroid hormone (PTH) levels excluded primary hyperparathyroidism, raising suspicion of a non-functional parathyroid adenoma, and SPECT/CT imaging showed that the mass was 99mTc-sestamibi-avid. Fine-needle aspiration (FNA) was performed; cytology was non-diagnostic but the needle washout was negative for thyroglobulin, calcitonin and PTH, arguing against a thyroidal or parathyroidal origin of the mass. Core needle biopsy revealed a schwannoma, ostensibly originating from the recurrent laryngeal nerve; upon surgical resection, it was finally found to arise from the esophageal submucosa. This case illustrates the fact that endocrinologists, radiologists, nuclear medicine, head and neck, and other specialists investigating patients with cervical masses should be aware that schwannomas need to be considered in the differential diagnosis of focal 99mTc-sestamibi uptake in the neck region.
Case report: One case of refractory membranous nephropathy with hypokalemia after rituximab infusion was switched to obinutuzumab without recurrence of hypokalemia
Authors: Yao Zhang, Jing Sun, Jie Gao, Weiyan Sun, Liang Xu, Chunjuan Zhai, WenYan Su, Haiping Wang
Journal: Front Pharmacol (2024)
Keywords: pla2r-ab-associated membranous nephropathy, adverse drug reactions, case report, hypokalemia, obinutuzumab, rituximab
MeSH terms: Case Reports

Rituximab (RTX) is a monoclonal antibody commonly used to treat PLA2R-associated membranous nephropathy (MN). This report presents a case of refractory MN in a patient who experienced severe hypokalemia, a rare but clinically significant condition, after the 5th RTX infusion. Clinicians should be aware of the potential for hypokalemia and its management during or after RTX infusion. After the onset of hypokalemia, the patient received treatment with obinutuzumab and achieved partial remission of renal disease without experiencing further hypokalemia. Obinutuzumab may be a viable alternative therapy for refractory membranous nephropathy that develops side effects after rituximab therapy or is refractory to it, but further studies are necessary to determine its efficacy and safety.
A Rare Case of Pseudoangiomatous Stromal Hyperplasia in a Male Patient
Authors: Qun Xia Xu, Johan Bafort, Jan Decloedt
Journal: J Belg Soc Radiol (2023)
Keywords: pash, anastomosing slit-like spaces, breast, gynecomastia vera, ultrasound
MeSH terms: Case Reports

Teaching Point: Pseudoangiomatous stromal hyperplasia (PASH) is a rare benign breast condition that can mimic the appearance of breast cancer on imaging studies.
Retrospective case study: ketogenic metabolic therapy in the effective management of treatment-resistant depressive symptoms in bipolar disorder
Authors: Nicole Laurent
Journal: Front Nutr (2024)
Keywords: kmt, bipolar disorder, clinical psychology, ketogenic diet, ketogenic metabolic therapy, metabolic psychiatry, mood disorders, treatment-refractory depression
MeSH terms: Case Reports

This retrospective case study assessed Ketogenic Metabolic Therapy's (KMT) efficacy in a bipolar disorder patient with treatment-resistant depressive symptoms insufficiently controlled by weekly ketamine treatments. Monitoring included relevant biomarkers of ketone production and macronutrient levels, alongside mood evaluations through the Generalized Anxiety Disorder-7 (GAD-7), Depression Anxiety Stress Scales (DASS), and PTSD Checklist for DSM-5 (PCL-5), showing mood stabilization and improved functionality. Qualitative analysis revealed sub-stantial enhancements in functioning, life quality, and mental well-being. This study enriches the metabolic psychiatry literature, emphasizing KMT's potential benefits by integrating quantitative data from recognized psychiatric assessment tools and qualitative insights.
Psychotropic Management in Cotard Syndrome: Case Reports Supporting Dual Medication Management
Authors: Adam J Fusick, Chemar Davis, Steven Gunther, Cory Klippel, Gregory Sullivan
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

Cotard syndrome is a rare presentation where patients present with nihilistic thoughts of dying or already being dead. These delusions manifest from either a medical or psychiatric etiology and can be difficult to treat. Recently Couto and Gonçalves purposed that treatment should include an atypical antipsychotic alone or in combination with either a mood stabilizer or antidepressant. Here the authors advocate for a more specific but well-known psychotropic regimen, namely the combination of olanzapine and fluoxetine. We conducted a literature review and of 246 papers identified, only three reported using a combination of fluoxetine and olanzapine with many of them having limited or confounding information that make it difficult for us to comment on the historically efficacy of this medication combination. Therefore, the authors provide two case examples of patients being treated successfully with olanzapine and fluoxetine. One, a 66-year-old male veteran and another 76-year-old male veteran. Both of these cases hold significance as the patient's psychotic depression was so severe as to warrant ECT as a possible treatment. In both cases, this medication combination was able to avoid the procedure. Overall, with the addition of our cases and the sparse information available in the literature, we propose the combination of fluoxetine and olanzapine as an effective Cotard syndrome treatment.
Microwave ablation for painful chest wall metastases from gastrointestinal stromal tumor: a case report
Authors: Shishi Wang, Lu Wang, Tingting Li, Yuan Li, Min Zhuang, Man Lu
Journal: Front Oncol (2024)
Keywords: bone metastasis, gastrointestinal stromal tumors, microwave ablation, pain management, palliative care
MeSH terms: Case Reports

Background:
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the digestive tract, with the potential to metastasize. Metastases to bone and soft tissue are more frequent in advanced cases, where targeted therapy is the standard treatment. However, around 10-15% of patients develop disease progression despite treatment. Studies have shown the efficacy of ablation in managing bone and soft tissue metastases (1, 2), but there are no reports of ablation for treating GIST bone or soft tissue metastases.
Case presentation:
In 2022, a 58-year-old man complaining of left back pain was admitted to Sichuan Cancer Hospital. He had undergone radical resection of the primary gastric GIST and vertebral metastases in 2014 and 2018, respectively. In 2019, rib metastases still occurred despite the use of targeted therapy. During the course of radiotherapy, targeted therapy, and immunotherapy, he experienced persistent chest wall pain. In addition, new lesions occurred in the lungs and chest wall in 2022. After a thorough assessment, microwave ablation (MWA) was recommended in response to his demand for immediate pain relief. The large rib metastasis constricted the spleen, so we completed the ablation in two sessions to reduce the risk of complications. He had 17 months of follow-up until September 2023, during which time his discomfort was considerably reduced.
Conclusion:
For GIST patients with soft tissue and bone metastases, MWA may offer substantial immediate pain alleviation. When other treatment procedures fail to achieve adequate efficacy, it provides an option.
Case Report: Epi-endocardial bridges in refractory cavotricuspid isthmus-dependent atrial flutter: technical analysis of epi-endocardial breakthrough
Authors: Andrea Matteucci, Claudio Pandozi, Maurizio Russo, Marco Galeazzi, Enrico Lombardi, Marco Valerio Mariani, Carlo Lavalle, Furio Colivicchi
Journal: Front Cardiovasc Med (2024)
Keywords: cavo-tricuspid isthmus ablation, epicardial bridge, epiendocardial breakthrough, high-density mapping, typical counter-clockwise atrial flutter
MeSH terms: Case Reports

Background:
Typical isthmus-dependent atrial flutter (AFL) is traditionally treated through radiofrequency (RF) ablation to create a bidirectional conduction block across the cavo-tricuspid isthmus (CTI) in the right atrium. While this approach is successful in many cases, certain anatomical variations can present challenges, making CTI ablation difficult.
Methods:
We enrolled four patients with typical counter-clockwise AFL who displayed an epicardial bridge at the CTI. Patients underwent high-resolution mapping of the right atrium and CTI ablation.
Results:
Post-mapping identified areas of early focal activation outside the lesion line which suggested the presence of an epi-endocardial bridge with an endocardial breakthrough, confirmed by recording a unipolar rS pattern on electrograms at that site. A stable CTI block was achieved in all patients only after ablation at the site of the epi-endocardial breakthrough.
Conclusions:
The presence of an epicardial bridge at the CTI, allowing conduction to persist despite endocardial ablation, should be considered in challenging cases of CTI-dependent AFL. Understanding this phenomenon and utilizing appropriate mapping and ablation techniques are essential for achieving successful and lasting CTI block.
SYN1 variant causes X-linked neurodevelopmental disorders: a case report of variable clinical phenotypes in siblings
Authors: Bin Ren, Xiaoyan Wu, Yuqiang Zhou, Lijuan Chen, Jingzi Jiang
Journal: Front Neurol (2024)
Keywords: syn1, bathing epilepsy, clinical heterogeneity, genotype–phenotype correlation, reflex epilepsy
MeSH terms: Case Reports

The SYN1 gene encodes synapsin I, variants within the SYN1 gene are linked to X-linked neurodevelopmental disorders with high clinical heterogeneity, with reflex epilepsies (REs) being a representative clinical manifestation. This report analyzes a Chinese pedigree affected by seizures associated with SYN1 variants and explores the genotype-phenotype correlation. The proband, a 9-year-old boy, experienced seizures triggered by bathing at the age of 3, followed by recurrent absence seizures, behavioral issues, and learning difficulties. His elder brother exhibited a distinct clinical phenotype, experiencing sudden seizures during sleep at the age of 16, accompanied by hippocampal sclerosis. Whole exome sequencing (WES) confirmed a pathogenic SYN1 variant, c.1647_1650dup (p. Ser551Argfs*134), inherited in an X-linked manner from their mother. Notably, this variant displayed diverse clinical phenotypes in the two brothers and one previously reported case in the literature. Retrospective examination of SYN1 variants revealed an association between truncating variants and the pathogenicity of REs, and non-truncating variants are more related to developmental delay/intellectual disability (DD/ID). In summary, this study contributes to understanding complex neurodevelopmental disorders associated with SYN1, highlighting the clinical heterogeneity of gene variants and emphasizing the necessity for comprehensive genetic analysis in elucidating the pathogenic mechanisms of such diseases.
Fecal microbiota transplantation in a child with severe ASD comorbidities of gastrointestinal dysfunctions-a case report
Authors: Cong Hu, Tianyi He, Biao Zou, Heli Li, Jinzhu Zhao, Chen Hu, Jinru Cui, Zhihua Huang, Sainan Shu, Yan Hao
Journal: Front Psychiatry (2023)
Keywords: autism (asd), case report, fecal microbiota transplantation (fmt), gastrointestinal dysfunctions, metagenomic sequencing
MeSH terms: Case Reports

Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by social communication impairments and restricted, repetitive behaviors. In addition to behavioral interventions and psychotherapies, and pharmacological interventions, in-depth studies of intestinal microbiota in ASD has obvious abnormalities which may effectively influenced in ASD. Several attempts have been made to indicate that microbiota can reduce the occurrence of ASD effectively. Fecal microbiota transplantation (FMT) is a type of biological therapy that involves the transplant of intestinal microbiota from healthy donors into the patient's gastrointestinal tract to improve the gut microenvironment. In this case report, we describe a case of child ASD treated by FMT. The patient have poor response to long-term behavioral interventions. After five rounds of FMT, clinical core symptoms of ASD and gastrointestinal(GI) symptoms were significantly altered. Moreover, the multiple levels of functional development of child were also significantly ameliorated. We found that FMT changed the composition of the intestinal microbiota as well as the metabolites, intestinal inflammatory manifestations, and these changes were consistent with the patient's symptoms. This report suggests further FMT studies in ASD could be worth pursuing, and more studies are needed to validate the effectiveness of FMT in ASD and its mechanisms.
Single-stage full-depth scalp reconstruction with Matriderm®: a clinical case report and a brief literature review
Authors: Christos N Noulas, Markos A Markou, George I Voulgaris, Eleni I Effraimidou, Nikolaos A Papadopulos
Journal: Case Reports Plast Surg Hand Surg (2024)
Keywords: matriderm®, vertex deficit, dermal regeneration template, scalp reconstruction, skin cancer
MeSH terms: Case Reports

Reconstructing scalp defects after basal cell carcinoma removal in elderly patients is challenging. This case report emphasizes Matriderm® as a successful alternative, addressing limitations of traditional methods. The application of Matriderm® in resource-limited scenarios adds insights to surgical literature, and its' usage addresses challenges in patients, contributing to surgical knowledge.
Primary Hepatic Neuroblastoma in a 5.5-Month-Old Boy: A Case Report
Authors: Farzad Kompani, Alieh Safari Sharari, Elmira Haji Esmaeil Memar, Mahya Ghahremanloo
Journal: Arch Iran Med (2024)
Keywords: liver neoplasms, neuroblastoma, pediatrics
MeSH terms: 3-Iodobenzylguanidine, Neuroblastoma / diagnostic imaging, Case Reports, Child, Hepatomegaly, Humans, Infant, Infant, Newborn, Infant, Premature, Male, 3-Iodobenzylguanidine

The most frequent type of extracranial solid tumor in pediatric cases is neuroblastoma (NB), almost always arising in tissues with sympathetic innervation with only a few reported cases arising in other organs. NBs with hepatic involvement are typically metastatic lesions as primary hepatic NBs are extremely rare. This study presents a 5.5-month-old boy with primary hepatic NB. This case study describes a male 5.5-month-old preterm infant who presented with overt hepatomegaly. Laboratory tests showed an abnormally high level of alpha-fetoprotein. A sonography-guided liver needle biopsy was performed, so histopathological examination suggested the diagnosis of a small round-cell tumor. Immunohistochemical staining demonstrated evidence of neuronal differentiation in the tumor. The sum of these findings was in favor of the diagnosis of NB. Bone marrow aspiration and biopsy were normal. The full-body computed tomography scan revealed a large intrahepatic mass measuring 82×70×74 mm with mild peripheral enhancement. A metaiodobenzylguanidine (MIBG) scintiscan confirmed a huge round MIBG-avid hepatic lesion without other remarkable lesions at other sites in the body. Chemotherapy treatment was started for the patient, and after 4 sessions of chemotherapy, an ultrasound showed that the mass size had decreased to 55×36 mm. This report describes the first primary hepatic NB in a pediatric patient with detailed clinicopathological details. Primary hepatic NB is extremely rare. It is important to consider neuroendocrine tumors as a possibility when faced with a single hepatic tumor that has a similar histological appearance.
Hyperbaric oxygen therapy as an adjunctive treatment for COVID-19-associated mucormycosis: a report of two cases
Authors: Víctor Valencia-Caballero, José Cachay-Diaz, José Huamán-Muñante, Lourdes Romaní-Montoro, Norka Vásquez-Zevallos, César Carozzi-Calvo, Cesar Chian-García, Hugo Hernández-Chávez, Cristhian Agustín-Paredes, Esteban Vergara-de la Rosa
Journal: Rev Peru Med Exp Salud Publica (2023)
MeSH terms: COVID-19 / complications, COVID-19 / therapy, Hyperbaric Oxygenation, Mucormycosis / drug therapy, Mucormycosis / therapy, Case Reports, Adult, Female, Humans, Male, Pain, Peru

We present the first two cases reported in Peru of the use of adjuvant hyperbaric oxygen therapy (HBOT) in patients with COVID-19-associated mucormycosis (CAM). The first case is a 41-year-old woman, with pain in the left side of the face and palatine region with purulent rhinorrhea for a month. Only an oroantral fistula was found during physical examination. The second case is a 35-year-old male, with decreased left visual acuity and palatal pain with a fistula, draining purulent secretion for four months. Both patients have history of diabetes, had moderate COVID-19 four months prior to admission, and received corticosteroid therapy for this diagnosis. Tomographic evaluation of both patients showed involvement of the maxillary sinus and surrounding bone tissue; both received diagnostic and therapeutic nasal endoscopy for debridement. Histological analysis showed that the samples were compatible with mucormycosis. The patients underwent debridement and were treated with amphotericin B deoxycholate; however, they presented torpid evolution. Then, HBOT was added and the patients showed an evident improvement after four weeks of treatment with subsequent controls without the presence of mucormycosis. We highlight the favorable evolution of these patients while receiving HBOT as treatment for a disease with high morbimortality, which emerged during the pandemic.
Escitalopram-induced sinus bradycardia in coronary heart disease combined with depression: a case report and review of literature
Authors: Liu-Cheng Li, Wen Sun, Xiao-Qin Lv, Yao-Yao Xu, Ying Hu, Jia-Na Shi
Journal: Front Cardiovasc Med (2024)
Keywords: case report, coronary heart disease, depression, escitalopram, sinus bradycardia

For patients with cardiovascular disease, using the antidepressant escitalopram may lead to unexpected adverse events. Here, a rare repeated sinus bradycardia event due to escitalopram is first reported. In an 82-year-old female patient with cardiac dysfunction using digoxin, tachycardia (average heart rate of 93 beats/min) was demonstrated by electrocardiogram (ECG). She began to take escitalopram and lorazepam due to depression, but sinus bradycardia (93.7% heart rate was <60 beats/min) and sinus arrest were first detected after 3 months. Its proportion decreased to 0.1% after discontinuation of digoxin and escitalopram for 1 day, and the rhythm returned to normal 2 weeks later. After 2 months, escitalopram was prescribed again in combination with quetiapine; then, 17.1% heart rate was <60 beats/min. After escitalopram and quetiapine withdrawal, the ECG showed the heart rhythm had normalized again. No other drug changes were made during these periods. Escitalopram was deemed to be a highly possible cause of sinus bradycardia according to its Naranjo's Algorithm score. Furthermore, literature on escitalopram-mediated cardiovascular adverse events was reviewed and analyzed. Empirically, escitalopram should be discontinued immediately if iatrogenic causes cannot be ruled out. Furthermore, ECG monitoring in escitalopram-related cardiovascular adverse events is highlighted, especially in patients receiving certain drug classes simultaneously (i.e., sinoatrial node inhibitors, antipsychotics).