OpenMed/multicare-articles huggingface dataset:
Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review
Authors: Wei Zhang, Muhammad Tariq, Bhaskar Roy, Juan Shen, Ayaz Khan, Naveed Altaf Malik, Sijie He, Shahid Mahmood Baig, Xiaodong Fang, Jianguo Zhang
Journal: Front Genet (2024)
Keywords: dop1a, mon2, myelin-associate glycoprotein (mag), myelination, neurodevelopmental disorders (ndds), proteolipid protein (plp)

Background:
Hereditary neurodevelopmental disorders (NDDs) are prevalent in poorly prognostic pediatric diseases, but the pathogenesis of NDDs is still unclear. Irregular myelination could be one of the possible causes of NDDs.
Case presentation:
Here, whole exome sequencing was carried out for a consanguineous Pakistani family with NDDs to identify disease-associated variants. The co-segregation of candidate variants in the family was validated using Sanger sequencing. The potential impact of the gene on NDDs has been supported by conservation analysis, protein prediction, and expression analysis. A novel homozygous variant DOP1A(NM_001385863.1):c.2561A>G was identified. It was concluded that the missense variant might affect the protein-protein binding sites of the critical MEC interaction region of DOP1A, and DOP1A-MON2 may cause stability deficits in Golgi-endosome protein traffic. Proteolipid protein (PLP) and myelin-associate glycoprotein (MAG) could be targets of the DOP1A-MON2 Golgi-endosome traffic complex, especially during the fetal stage and the early developmental stages. This further supports the perspective that disorganized myelinogenesis due to congenital DOP1A deficiency might cause neurodevelopmental disorders (NDDs).
Conclusion:
Our case study revealed the potential pathway of myelinogenesis-relevant NDDs and identified DOP1A as a potential NDDs-relevant gene in humans.
Challenges in the Management of Massive Carotid Body Tumor
Authors: Oluwapelumi Olusoga-Peters, Moses Ayodele Akinola, John Ifeanyi Nwadiokwu, Florence Oguntade
Journal: Case Rep Otolaryngol (2024)
MeSH terms: Case Reports

The carotid body paraganglioma is a rare benign neoplasm arising from the chemoreceptor cells of the carotid bulb. The carotid body has the largest collection of paraganglia in the head and neck with 60-70% of head and neck paraganglioma. Paraganglia are clusters of cells originating from the neural crest with histological and cytochemical characteristics of neuroendocrine cells. It is mostly asymptomatic in early presentation but become symptomatic and difficult to manage when the tumor is large. We present a case of a 26-year-old male who presented with a painless, pulsatile, progressively increasing left lateral neck swelling of 5 years duration with Shamblin IIIa. The diagnosis of the tumor was confirmed based on clinical features, histology, and radiological findings. We had difficult surgical dissection of the tumor with neurovascular damage.
Case Report: Plummer's adenoma in Prader-Willi syndrome
Authors: Domenico Corica, Fabio Toscano, Mariacarla Moleti, Giorgia Pepe, Alfredo Campenni, Guido Fadda, Gianlorenzo Dionigi, Carmelo Romeo, Tommaso Aversa, Malgorzata Wasniewska
Journal: Front Pediatr (2024)
Keywords: gh therapy, plummer’s adenoma, children, subclinical hyperthyroidism, thyroid nodule
MeSH terms: Case Reports

Thyroid nodules in children are less common than in adults but they are approximately two- to three-fold more likely to be malignant in children. Among thyroid nodular diseases, Plummer's adenoma occurs very rarely in pediatrics, and currently, there is no literature providing evidence of this diagnosis in patients with Prader-Willi syndrome (PWS). We report the case of a 9-year-old Caucasian boy affected by PWS presenting with a rapidly growing palpable mass in the thyroid lodge associated with subclinical hyperthyroidism. Laboratory and other examinations (thyroid ultrasound, fine-needle aspiration of the nodule, and scintigraphy) were strongly suggestive for Plummer's adenoma; therefore, the patient underwent left hemithyroidectomy surgery, and anatomo-pathological examination confirmed the diagnosis. Our case describes the first evidence of an isolated follicular adenoma in children with PWS. Surgery is the only therapeutic option in younger children. Further evidence is needed to assess the possible correlation between these two conditions and the existence of potential risk factors.
Transient Intussusception Mimicking Acute Coronary Syndrome
Authors: Hiroshi Imamura, Yuichiro Kashima, Yujiro Hamano, Aoi Ogawara
Journal: Case Rep Gastrointest Med (2023)
MeSH terms: Case Reports

Intussusception in adults is rare and usually associated with organic lesions. However, in the current era of computed tomography (CT), cases of idiopathic and transient intussusceptions are being increasingly diagnosed. Herein, we present a case of ileocecal intussusception with symptoms mimicking those of acute coronary syndrome. A male patient in his 80s with a history of myocardial infarction presented to the emergency department with acute onset of severe precordial and epigastric pain, cold sweating, and vomiting. Coronary angiography did not reveal any significant new lesion, while abdominal CT revealed ileocecal intussusception without bowel obstruction. The pain spontaneously subsided without any intervention, and the patient was discharged on the sixth hospital day. Cases of intussusception may go unnoticed in patients suspected of having chest pain with a normal coronary arteriogram, as idiopathic intussusception is relatively common and subsides spontaneously. Therefore, physicians should note that intussusception is one of the differential diagnoses of acute coronary syndrome.
A Case of Posterior Cortical Atrophy Presenting with Mood and Psychotic Symptoms
Authors: Tremearne Hotz, Manu Sharma, Bharat Narapareddy
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

Posterior cortical atrophy (PCA) is a rare neurodegenerative disorder characterized by predominant visual deficits due to its atrophy of the occipital lobes. Patients typically have preserved cognitive function during the early stages, making diagnosis more difficult when compared to other neurocognitive disorders. In this case, the patient presented predominantly with mood symptoms, delusions, and visual hallucinations. The disease course began 5 years ago with anxiety and insomnia. It developed into depressive symptoms including two suicide attempts (SAs), paranoia, and hallucinations. The diagnosis was eventually reached utilizing a thorough clinical exam, neuropsychological testing, MRI, positron emission tomography (PET), and dopamine transporter (DAT) scans. We conclude that mood or psychotic symptoms that emerge, escalate, or change dramatically at later ages merit further workup to evaluate for underlying neurodegenerative disorders.
A rare presentation of esthesioneuroblastoma: a case report and review of the literature
Authors: Ahmed Ben Sghier, Soumiya Samba, Meriem Bouabid, Soufiane Berhili, Mohammed Moukhlissi, Loubna Mezouar
Journal: Pan Afr Med J (2023)
Keywords: esthesioneuroblastoma, adjuvant radiotherapy, case report, surgical resection
MeSH terms: Esthesioneuroblastoma, Olfactory / diagnosis, Esthesioneuroblastoma, Olfactory / therapy, Nose Neoplasms / diagnosis, Nose Neoplasms / pathology, Nose Neoplasms / therapy, Review, Case Reports, Humans, Morocco, Nasal Cavity / pathology, Radiotherapy, Adjuvant

Esthesioneuroblastoma is a rare malignant tumor developing from the olfactory neuroepithelium. It represents less than 5% of all cancers of the nasal cavity. We are going to report the observation of a patient followed at the regional oncology center of Oujda in Morocco who presented a locally advanced esthesioneuroblastoma. Treatment consisted of surgical resection followed by adjuvant radiotherapy on the tumor bed. Currently, the patient is in good control of his disease.
Recreational use of nitrous oxide causes seizure, pneumothorax, pneumomediastinum, and pneumopericardium: nitrous oxide and its harm, a case report
Authors: Lee Ti Davidson
Journal: Ups J Med Sci (2023)
Keywords: pneumothorax, nitrous oxide, pneumopericardium, recreational drug
MeSH terms: Mediastinal Emphysema / chemically induced, Mediastinal Emphysema / diagnostic imaging, Pneumopericardium / chemically induced, Pneumopericardium / complications, Pneumopericardium / diagnostic imaging, Pneumothorax / chemically induced, Pneumothorax / diagnostic imaging, Case Reports, Humans, Nitrous Oxide / adverse effects, Seizures / chemically induced, Seizures / complications, Nitrous Oxide

Nitrous oxide, commonly known as 'laughing gas', has become a popular recreational drug. Whippets, small canisters containing gas in pressurized form, can be easily obtained from a food store. However, inhaling nitrous oxide from these canisters, which contain a 100% concentration, can lead to hypoxia, resulting in seizures or even death. Inhalation of nitrous oxide rarely causes pneumothorax, pneumomediastinum, and pneumopericardium. This case study highlights the potential dangers of recreational abuse of nitrous oxide.
Case report: Advanced modified pneumatic retinopexy for treating simultaneous bilateral rhegmatogenous retinal detachment
Authors: Shenchao Guo, Tiepei Zhu, Xin Zhang, Gaochun Li, Zhenyang Xiang, Enhui Li
Journal: Front Med (Lausanne) (2024)
Keywords: bilateral, gas injection, head position maneuver, pneumatic retinopexy, rhegmatogenous retinal detachment
MeSH terms: Case Reports

Background:
Simultaneous bilateral rhegmatogenous retinal detachment (RRD) is a rare and challenging condition in ophthalmology. This case report focuses on a modified pneumatic retinopexy technique, designed to improve treatment outcomes for this difficult condition.
Case presentation:
A 59-year-old male presented with decreased visual acuity in his right eye for one week. Examination revealed extensive retinal detachment in the right eye with multiple superior breaks and macula off, separated by approximately 3 clock hours. The left eye exhibited one quartile of retinal detachment with superior breaks and macula on. Bilateral simultaneous PR was performed for retinal repair. In the modified PR procedure, 0.7 ml of low-concentration perfluoropropane and 0.7 ml of filtered pure air were intravitreally injected into the right and left eyes, respectively. A head position maneuver was then employed to sequentially close retinal breaks, followed by laser photocoagulation once the surrounding retina reattached. Two days after gas injection, both retinas were completely reattached. Best corrected visual acuity improved to 0.6 in the right eye and 0.9 in the left eye at the 8-month follow-up.
Conclusion:
The innovative modified pneumatic retinopexy technique presented in this case report offers a promising new approach for effectively treating simultaneous bilateral rhegmatogenous retinal detachment.
Cryptogenic ischemic stroke in cardiac transthyretin amyloidosis and sinus rhythm: a case report
Authors: Angela Napolitano, Serena Toffanin, Cristiana Bulato, Elena Campello, Paolo Simioni, Luca Spiezia
Journal: Front Cardiovasc Med (2024)
Keywords: case report, extracellular vesicles, thromboelastometry thrombin generation, thrombotic complications, transthyretin amyloidosis
MeSH terms: Case Reports

Cardiac amyloidosis is a group of diseases characterized by the deposition of amyloid fibers in cardiac tissue. Two forms are mainly reported: light chain (AL) and transthyretin (ATTR) amyloidosis. Among the complications of transthyretin amyloidosis there are thrombotic events and, to a lesser extent, hemorrhagic events. The latter are likely caused by perivascular amyloid deposition resulting in capillary fragility, in addition to INR lability during anticoagulant therapy. The onset of thrombotic events may be caused by the high prevalence of atrial fibrillation (AF), mechanical cardiac dysfunction and atrial myopathy observed in patients with transthyretin amyloidosis. It remains unclear why thromboembolic events occur even in patients with sinus rhythm or adequate anticoagulation, though a hypercoagulable state or underlying inflammation may be involved. We report a case of cryptogenic ischemic stroke in an 86-year-old woman with transthyretin amyloidosis and sinus rhythm. Traditional coagulation tests, whole blood rotational thromboelastometry and impedance aggregometry did not show a hypercoagulable state. The thrombin generation assay did not reveal a prothrombotic state. However, the study of extracellular vesicles highlighted underlying immune-mediated endothelial damage likely responsible for the thrombotic diathesis. It could be hypothesized that inflammation plays a role in the hypercoagulability of patients with transthyretin amyloidosis. Larger prospective studies are needed to validate our hypothesis.
Intraventricular Pleomorphic Xanthoastrocytoma: A Case Report and Systemic Review
Authors: Xiaotong Wu, Kota Yokoyama, Kazutaka Sumita, Yoji Tanaka, Ukihide Tateishi
Journal: Cureus (2024)
Keywords: anaplastic pleomorphic xanthoastrocytoma, brain tumor, corpus callosum (cc) agenesia, intraventricular pxa, mri, pleomorphic xanthoastrocytoma
MeSH terms: Case Reports

We present a unique case of a 45-year-old male with cerebral palsy, who experienced walking difficulties and altered consciousness. The initial MRI revealed an intraventricular mass that rapidly enlarged over a month, consisting of two distinct components with different characteristics on CT and MRI, and was associated with agenesis of the corpus callosum. Despite initial treatment, surgical intervention was necessary, where preoperative imaging suggested an exophytically growing glioblastoma. However, postsurgical pathological examination identified the mass as pleomorphic xanthoastrocytoma (PXA), World Health Organization (WHO) Classification of Tumours of the Central Nervous System (CNS) grade 3. This study is notable for its rarity and complexity, challenging standard diagnostic approaches. PXA is an uncommon astrocytic tumor, and its occurrence intraventricularly is extremely rare. This study highlights its unique imaging features and the critical role of MRI in preoperative assessment, underlining the tumor's unusual intraventricular location, and its relationship with corpus callosum agenesis. Our comprehensive review of PXA's history and imaging spectrum offers valuable insights for neuroradiologists and neurosurgeons, emphasizing the diagnostic challenges of such rare tumor locations and the importance of meticulous MRI analysis for accurate diagnosis.
Potential co-infection of influenza A, influenza B, respiratory syncytial virus, and Chlamydia pneumoniae: a case report with literature review
Authors: Yuanyuan Feng, Shengzhu Wen, Song Xue, Meigui Hou, Ying Jin
Journal: Front Med (Lausanne) (2024)
Keywords: chlamydia pneumoniae, co-infection, influenza, respiratory syncytial virus, respiratory tract infection
MeSH terms: Case Reports

The occurrence of a co-infection involving four distinct respiratory pathogens could be underestimated. Here, we report the case of a 72-year-old woman who presented to a community hospital with a cough productive of sputum as her main clinical manifestation. Antibody detection of common respiratory pathogens revealed potential co-infection with influenza A, influenza B, respiratory syncytial virus, and Chlamydia pneumoniae. We treated her with 75 mg oseltamivir phosphate administered orally twice daily for 5 days, 0.5 g azithromycin administered orally for 5 days, and 0.3 g acetylcysteine aerosol inhaled twice daily for 3 days. The patient showed a favorable outcome on the eighth day after early diagnosis and treatment. Since co-infection with these four pathogens is rare, we performed an extensive PubMed search of similar cases and carried out a systematic review to analyze the epidemiology, clinical manifestations, transmission route, susceptible population, and outcomes of these four different pathogens. Our report highlights the importance for general practitioners to be vigilant about the possibility of mixed infections when a patient presents with respiratory symptoms. Although these symptoms may be mild, early diagnosis and timely treatment could improve outcomes. Additionally, further research is warranted to explore the potential influence of SARS-CoV-2 infection on the co-occurrence of multiple respiratory pathogens.
Effectiveness of Tocilizumab in the Treatment of a Recent Kidney Transplant Recipient With COVID-19
Authors: Elisabed Chikobava, Lasha Chkhikvadze, Keti Menabde, Giorgi Pkhakadze, Irma Tchokhonelidze
Journal: Cureus (2024)
Keywords: covid-19, immunosuppression, interleukin 6, kidney transplantation, tocilizumab
MeSH terms: Case Reports

The coronavirus disease 2019 (COVID)-19 pandemic significantly affected transplantation care strategies due to the heightened vulnerability of transplant recipients to severe illness. We present a unique case of a 31-year-old female with COVID-19 pneumonia following a recent kidney transplant managed with immunosuppressant reduction and tocilizumab therapy. The patient underwent live donor kidney transplantation and was considered a low immunologic risk recipient. Following surgery, she presented with fever, headache, and fatigue, and subsequent testing confirmed active COVID-19 infection. Imaging revealed characteristic pneumonia features. Standard approaches, including immunosuppressant reduction and antibiotic therapy, initially failed to halt clinical deterioration. Progressive radiological findings and increasing inflammatory markers raised concerns of impending graft failure and cytokine storm. Considering the severity of the condition, tocilizumab, an interleukin-6 (IL-6) receptor antagonist, was administered alongside continued supportive care and adjusted immunosuppression. Within a day post-tocilizumab infusion, the patient showed significant improvement in clinical parameters, with resolution of respiratory distress and systemic symptoms. Laboratory markers gradually normalized, and subsequent lung imaging showed improvement. The patient was discharged with follow-up recommendations. Managing COVID-19 in postoperative transplant patients requires nuanced approaches due to immunosuppression-related complexities. Despite limited guidance, our case highlights the successful use of tocilizumab in treating COVID-19 pneumonia shortly after transplantation, showcasing its potential effectiveness and safety in this context. Reporting such experiences is crucial for refining management strategies for immunocompromised transplant recipients facing COVID-19 complications.
Case Report: Virtual natural environment solution helped a child cope with a painful procedure
Authors: Elina Karppa, Kaija Puura, Ilmari Jyskä, Markku Turunen, Sauli Palmu
Journal: Front Pediatr (2024)
Keywords: analgesia, child, deep breathing, trypanophobia, virtual reality
MeSH terms: Case Reports

Fear of needles is a common phenomenon that can affect the patient's ability to function and to seek medical help. Novel treatment practices are needed to help children cope with this fear. Based on user feedback, immersive virtual reality applications are effective when distracting the patient during a painful procedure. Better understanding of how virtual reality solutions affect the autonomic nervous system should be acquired. We present the case of a 12-year-old boy attending our study examining a novel virtual reality (VR) relaxation method (VirNE). The clinical study aims to determine if pain and anxiety can be relieved by relaxation that has been induced by a virtual natural environment and guided relaxation exercise-mediated autonomic nervous system stimulation. The patient was able to overcome his fear of needles with the help of the guided relaxation and found significant relief from the distress he was experiencing on his monthly visits to the hospital due to his long-term illness requiring repetitious intravenous cannulations.
Case Report: A 13-year-old adolescent diagnosed as malignant phyllodes tumor combined with rhabdomyosarcoma differentiation
Authors: Jie Lian, Lu Gao, Ru Yao, Yidong Zhou, Qiang Sun
Journal: Front Oncol (2023)
Keywords: heterogeneous differentiation, pediatric sarcoma, phyllodes tumor, rhabdomyosarcoma, treatment strategy
MeSH terms: Case Reports

Phyllodes tumor (PT) is an infrequent type of breast neoplasm, constituting a mere 0.5%-1.5% of the entirety of breast tumors. The malignant phyllodes tumor (MPT) comprises only 15% of all phyllodes tumors, and its transformation into rhabdomyosarcoma (RMS) is exceedingly rare in clinical practice. Given its insensitivity to chemotherapy and radiotherapy, treatment options for MPT patients are limited, leaving complete surgical resection as the only option. Therefore, it is imperative to investigate the effective utilization of the heterogeneous differentiation characteristics of MPT to expand treatment alternatives for these patients. In this case report, we represent a 13-year-old adolescent diagnosed with giant breast MPT with RMS differentiation and pulmonary metastasis. The initial step in the treatment process involved radical surgical resection, followed by the administration of four cycles of VDC/IC chemotherapy, which is widely recognized as the standard chemotherapy for RMS. Regrettably, the delay in initiating chemotherapy resulted in minimal observable changes in the size of the pulmonary metastatic nodule. Additionally, a comprehensive literature review on the characterization of MPT with heterogeneous differentiation was conducted to enhance comprehension of the diagnosis and treatment of this uncommon disease in clinical practice. Meanwhile, this case also reminds the doctors that when we diagnose a patient as MPT, it is crucial to consider its heterogenous nature and promptly initiate adjuvant treatment. By targeting the differentiation element of MPT, it becomes feasible to overcome the previously perceived limitation of surgical intervention as the sole treatment option.