OpenMed/multicare-articles huggingface dataset:
Case Report: Response to ipilimumab and nivolumab in a patient with adrenocortical carcinoma
Authors: Rebecca Charles, Divine Madhu, Alexander Powles, Adam Boyde, Owen Hughes, Nagappan Kumar, Sing Yu Moorcraft
Journal: Front Oncol (2023)
Keywords: adrenal cancer, adrenocortical cancer, immunotherapy, ipilimumab, nivolumab
MeSH terms: Case Reports

Background:
Adrenocortical carcinoma (ACC) is a rare malignancy with limited treatment options. The evidence for the use of immunotherapy in ACC has been conflicting, with overall response rates ranging from 6 - 33%.
Case presentation:
We describe the case of a 32 year old patient who was initially thought to have an inoperable clear cell renal cell carcinoma and was treated with immunotherapy with ipilimumab and nivolumab. The patient had an excellent partial response to treatment. Further work-up prior to consideration of surgery demonstrated that the tumour was an ACC, rather than a renal cancer. She had a right adrenalectomy and right hepatectomy, achieving an R0 resection and remains disease-free one year after surgery.
Conclusion:
This case illustrates the challenge of diagnosing ACC, and that doublet immunotherapy with ipilimumab and nivolumab can have significant clinical efficacy in ACC.
Case Report: A left ventricular pseudoaneurysm detected by cardiac magnetic resonance more than 1 year after a percutaneous transluminal coronary intervention
Authors: Yuanyuan Liu, Ge Xu, Funan Shi, Jing Yang, Ruiqiang Gou, Zixian Chen, Liang Cao
Journal: Front Cardiovasc Med (2024)
Keywords: cmr (cardiovascular magnetic resonance), pci—percutaneous coronary intervention, cardiac magnetic resonance, myocardial infarction, pseudoaneurysm
MeSH terms: Case Reports

Pseudoaneurysm is a rare but lethal complication of acute myocardial infarction. In this study, we present a unique case of a patient with left ventricular free wall rupture detected by cardiac magnetic resonance more than 1 year after a percutaneous transluminal coronary intervention.
Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child
Authors: Jia-Qi Li, Jia-Yan Feng, Ying Gong, Wang-Qiang Li, Teng Liu
Journal: Front Pediatr (2023)
Keywords: dguok, case report, genetic variant, idiopathic non-cirrhotic portal hypertension, mitochondrial depletion syndrome, porto-sinusoidal vascular disorder
MeSH terms: Case Reports

DGUOK deficiency has primarily been associated with lethal hepatic failure with or without hypotonia, nystagmus, and psychomotor retardation, features typical of mitochondrial disease. A study in 3 Turkish children identified homozygosity for a variant in DGUOK as associated with idiopathic non-cirrhotic portal hypertension (INCPH). However, no further instances of INCPH associated with DGUOK variants have been reported. We here describe a fourth patient with DGUOK variants and childhood-onset INCPH, a 12-year-old Han Chinese boy, reporting clinical manifestations, histopathologic findings, and results of genetic studies. The child presented with hepatosplenomegaly; portal hypertension and hypersplenism were found. Vascular changes with hepatic fibrosis (Scheuer score 3) were observed on liver biopsy. Whole-exome sequencing and family analyses revealed compound heterozygosity for the DGUOK (NM_080916.3) variants c.778_781dup, (p.Thr261Serfs*28) and c.831_832del, (p.*278Thrfs*9) in the proband. These observations support ascription of instances of INCPH in children to variation in DGUOK.
18F-FDG PET-CT Scans in Oncology Patients Treated with Hyaluronic Acid Filler: Not Always a Pitfall
Authors: Ilaria Proietti, Chiara Battilotti, Francesca Svara, Ersilia Tolino, Nicoletta Bernardini, Nevena Skroza, Luca Filippi, Concetta Potenza
Journal: Case Rep Oncol Med (2024)
MeSH terms: Case Reports

The use of hyaluronic acid (HA) fillers in oncology patients undergoing PET-CT scans is a topic of debate due to potential interference with imaging accuracy. A 54-year-old female, postmelanoma metastasectomy in the parotid region with subsequent facial nerve palsy (FNP), received HA filler injections for facial symmetry and functional restoration. Follow-up PET-CT scans showed no interference or artifacts attributable to HA injection, allowing for accurate imaging results. This case suggests that HA fillers administered in oncology patients may not universally pose challenges or disrupt PET-CT imaging interpretation. Due to the possible false positives induced by fillers, the inclusion of aesthetic treatments in patients' anamnesis is a crucial step to accurately interpret PET-CT images. Although maintaining high level of caution in interpreting PET-CT results after filler injection is essential, our case emphasizes the safety of this procedure in oncology patients undergoing follow-up PET-CT scans.
Case report: Sustained complete remission with all-oral MEPED therapy in a patient with Hodgkin's disease developing resistance to pembrolizumab
Authors: K Reuthner, P Aubele, K Menhart, P Rath, D C Harrer, W Herr, J Hahn, M Vogelhuber, D Heudobler, F Lueke, A Reichle, M Grube
Journal: Front Pharmacol (2024)
Keywords: hodgkin`s disease, meped, pembrolizumab, relapse, remission, resistance
MeSH terms: Case Reports

Targeted chemotherapy and immune checkpoint inhibitors (ICPi) have expanded the spectrum of therapies for patients with relapsed/refractory (r/r) Hodgkin's disease and significantly improved the proportion of patients with long-term disease control. However, there is no standardized therapeutic option in case of further progression. Recently, we demonstrated that therapy with MEPED (metronomic chemotherapy, everolimus, pioglitazone, etoricoxib, dexamethasone) is highly effective in patients with r/r Hodgkin's disease. The benefit after pre-treatment with ICPi has not been studied, yet. Here, we report a patient with progressive Hodgkin's disease on Pembrolizumab for the first time who achieved sustained complete remission (CR) after initiation of MEPED therapy. A 57-year-old patient was pre-treated with brentuximab vedotin for relapsed advanced Hodgkin's disease and had received Pembrolizumab for progression from November 2020 to July 2022. Due to further progression, MEPED therapy was started in August 2022 and continued until May 2023. It consisted of a strictly oral daily (28-day cycle) application of low-dose treosulfan 250 mg, everolimus 15 mg, pioglitazone 45 mg, etoricoxib 60 mg, and dexamethasone 0.5 mg. Treatment response was evaluated by F-18 FDG-PET/CT (PET/CT). CR was defined by a negative Deauville score (DS) of 1-3. Already 3 months after starting MEPED, a CR (DS: 3) was confirmed by PET/CT in November 2022. The next follow-up in May 2023 continued to show CR (DS: 3). The therapy was very well tolerated. No hematological or other organ toxicity was observed. However, in May 2023 the patient presented with leg edema and weight gain, most likely due to pioglitazone and the PET/CT revealed suspected everolimus-induced pneumonitis, so MEPED was discontinued and diuretic therapy and treatment with prednisolone was started with gradual dose reduction. This resulted in a rapid complete resolution of the symptoms. The next PET-CT in July 2023 continued to show CR (DS: 3) without evidence of pneumonitis. Currently, therapy with MEPED has not been resumed. In conclusion, we demonstrate for the first time that MEPED therapy is highly effective in a patient with Hodgkin's disease who has been refractory to ICPi. Sustained CR was achieved over 11 months after initiation of MEPED therapy. Further studies on a larger patient cohort should be performed.
Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment
Authors: Omar Zgheib, Andrea Trombetti, André Juillerat, Siv Fokstuen
Journal: Child Neurol Open (2023)
Keywords: epilepsy, genetics, incidental finding, next-generation sequencing
MeSH terms: Case Reports

Genetic evaluation of a teenager with seizure found no pathogenic variant in a large gene panel, but an incidental likely pathogenic HNF4A variant, deemed to cause MODY1 diabetes. Diabetes history was absent and glycated hemoglobin normal, but serum calcium was severely low, with abnormally high parathyroid hormone. Thus, pseudohypoparathyroidism was suspected and confirmed by molecular genetic testing. Calcium and calcitriol supplementation led to calcium normalization and neurological symptom improvement. Given the absence of personal or family diabetes history, the HNF4A variant was reassessed and found to encode an alternative transcript with poor expression and activity levels, hence downgraded on expert advice from 'likely pathogenic' to 'likely benign'. Besides illustrating the importance of structured medical workup before launching extensive targeted exome sequencing, this case highlights the need for caution in incidental finding interpretation in patients lacking compatible phenotype or family history, and the value of expert advice in such variant interpretation.
Case report: A novel homozygous variant in ZP3 is associated with human empty follicle syndrome
Authors: Na Kong, Qian Xu, Xiaoyue Shen, Xiangyu Zhu, Guangyi Cao
Journal: Front Genet (2023)
Keywords: zp3, empty follicle syndrome, infertility, oocyte, reproduction
MeSH terms: Case Reports

Empty follicle syndrome (EFS) is a rare condition in female infertility. It is characterized by the inability to retrieve oocytes from visibly large, normally developing follicles in the ovaries, despite ovarian stimulation. The genetic factors contributing to this syndrome remain unclear. This study focused on patients who underwent three consecutive ovarian stimulation procedures for oocyte retrieval but experienced unsuccessful outcomes, despite the presence of observable large follicles. Ultrasound examinations were conducted to assess follicular development during each procedure. In order to investigate potential genetic causes, we performed whole exome sequencing on peripheral blood samples from the patient. Interestingly, we identified that this patient carries a homozygous mutation in the ZP3 genes. Within the ZP3 gene, we identified a homozygous variant [NM_001110354.2, c.176T>A (p.L59H)] specifically located in the zona pellucida (ZP) domain. Further analysis, including bioinformatics methods and protein structure modeling, was carried out to investigate the conservation of the ZP3L59H variant across different species. This homozygous variant exhibited a high degree of conservation across various species. Importantly, the homozygous ZP3L59H variant was associated with the occurrence of empty follicle syndrome in affected female patients. The homozygous ZP3L59H variant represents a newly discovered genetic locus implicated in the development of human empty follicle syndrome. Our findings contribute to a deeper understanding of the role of zona pellucida-related genes in infertility and provide valuable insights for the genetic diagnosis of female infertility.
Intracranial dissemination in a primary small cell carcinoma of the brain: a case report and literature review
Authors: Yesheng Sun, Ying Zhang, Ruichun Li, Dongpeng Cai, Wei Zhang, Zhiqian Yang
Journal: Front Oncol (2023)
Keywords: chemotherapy, immunohistochemistry, metastasis, primary intracranial small cell carcinoma, radiotherapy
MeSH terms: Review

Primary intracranial small cell carcinoma (SCC) is extremely rare with only 8 previously reported cases. We describe a case of primary intracranial SCC with intracranial metastasis. A 46-year-old man presented with decreased vision and a red and swollen left eye. Brain magnetic resonance imaging (MRI) revealed a heterogeneously enhanced tumor on the left frontal lobe. Preoperative systemic computed tomography (CT), MRI, and positron emission tomography (PET)-CT revealed no extracranial tumors. The tumor on the left frontal lobe was excised. Immunohistochemical staining on the excision showed positivity for CD56, synaptophysin (Syn), cytokeratin (CK), and Ki-67 (30%), and negativity for thyroid transcriptional factor-1 (TTF-1), glial fibrillary acidic protein (GFAP), B-cell lymphoma 6 (Bcl-6), multiple myeloma oncogene 1 (MUM-1), C-Myc, Vimentin, P40, P53, CK7, CD3, CD5, CD20, CD79a, CD10, and CD23. The pathological examination strongly suggested that the tumor was a primary intracranial SCC. One year after the surgery, the patient was readmitted with slurred speech and slow movements. Three well-defined tumors were found in the left upper frontal lobe by brain MRI. Tumor resection was then performed. Further immunohistochemical examination of the excised tissue displayed the same pattern as previously, indicating the recurrence of intracranial SCC in the left frontal lobe. The patient received adjuvant chemotherapy and radiotherapy after the tumor resection. At the 2-year follow-up, he remained asymptomatic.
Disease Progression and Death From Cervical Melanoma in a Patient Undergoing Nivolumab Therapy: A Case Report
Authors: Mateus Lopes Macêdo, Rafael Everton Assunção Ribeiro da Costa, Cristiane Amaral Dos Reis, Raimundo Gerônimo Da Silva Júnior, Ary Oliveira Pires, Sabas Carlos Vieira
Journal: Cureus (2024)
Keywords: case reports, cervix uteri, melanoma, nivolumab, surgery
MeSH terms: Case Reports

Melanoma of the uterine cervix is an exceedingly rare malignancy that has high recurrence rates and distant metastases. In general, surgery is the preferred treatment for this tumor, and depending on stage additional consideration to radiotherapy and chemotherapy. Immunotherapy has emerged as a new treatment option in this context. The aim of this study was to report a case of melanoma of the uterine cervix that progressed rapidly to death while the patient was undergoing immunotherapy with nivolumab. A 39-year-old woman presented with an amelanotic ulcerated lesion of the uterine cervix in February of 2023. Histopathology study demonstrated melanoma of the uterine cervix. Treatment was initiated with surgery. Two months after cancer diagnosis, the tumor board decided to initiate adjuvant treatment with nivolumab. After four cycles of immunotherapy, progression of the disease occurred with death of the patient within six months of follow-up. The rare case presented illustrates the aggressive natural history of the tumor and possible use of immunotherapy in this context, despite current evidence that response to nivolumab is less effective in cervical melanoma than in skin melanoma.
Lithium-induced cognitive dysfunction assessed over 1-year hospitalisation: A case report
Authors: Yuji Murase, Masaki Kato, Toshihiko Kinoshita, Yoshiteru Takekita
Journal: S Afr J Psychiatr (2024)
Keywords: cognistat, silent, wais, cognitive dysfunction, irreversible neurological sequelae, lithium-induced neurotoxicity, neuropsychological tests, overdose
MeSH terms: Case Reports

Introduction:
Lithium-induced neurotoxicity is almost always reversible but can cause irreversible neurological sequelae, namely the syndrome of irreversible lithium-effectuated neurotoxicity (SILENT). As there is no definitive treatment for SILENT, caution is required when administering lithium. Reports on the effect of lithium-effectuated neurotoxicity on cognitive function are limited. We report a case in which high cognitive function was lost after lithium overdose and hardly recovered, as evaluated using multiple neuropsychological tests during a 1-year hospitalisation period.
Patient presentation:
A 52-year-old man on lithium medication with bipolar disorder was admitted to the intensive care unit because of lithium overdose. The patient achieved lucid consciousness after continuous haemodiafiltration. However, he could not move his body as desired or produce appropriate verbal expressions; thus, he was moved to our psychiatric ward, where his treatment continued.
Management and outcome:
After several months, the patient was diagnosed with SILENT owing to persistent motor and cognitive dysfunctions. Multiple neuropsychological tests were performed, and cognitive function was evaluated. The Neurobehavioural Cognitive Status Examination showed a worsening trend, and the full intelligence quotient of the Wechsler Adult Intelligence Scale-Third Edition was in the mild intellectual disability range.
Conclusion:
This is a clear case of cognitive dysfunction due to SILENT and is difficult to treat. Thus, it is crucial to prevent the onset of SILENT.
Contribution:
This report is valuable because it is one of the few to track changes in cognitive function over time in a patient with SILENT using objective measures over 1 year of hospitalisation.
Unilateral intestinal lung disease misdiagnosed as rheumatoid lung disease. A case report of absent pulmonary artery
Authors: Bimaje Akpa, Hem Desai
Journal: Respir Med Case Rep (2024)
Keywords: congenital absence of pulmonary artery, rheumatoid arthritis, unilateral ild
MeSH terms: Case Reports

Unilateral absence of pulmonary artery (UAPA) is a congenital clinical abnormality that is rarely diagnosed in adulthood. Due to its rarity and heterogeneity as it pertains to its clinical presentation, it may be difficult to diagnose, often leading to misdiagnosis. We present a case of UAPA with unilateral pulmonary fibrosis which was misdiagnosed as rheumatoid arthritis-associated interstitial lung disease (RA-ILD). We describe the symptomology, physical examination findings, laboratory values and radiologic findings. We also describe the diagnostic challenges and approach to a patient presenting with unilateral interstitial lung disease (ILD) and highlight the importance of a comprehensive evaluation.
Penetrating Head Injury by a Hit of Rake in a Child: A Case Report and Literature Review
Authors: Issa Ibrahim Assoumane, Nicaise Kpègnon Agada, Rabiou Maman Sani, Aminath Kélani
Journal: Case Rep Neurol Med (2023)
MeSH terms: Case Reports

Background:
A penetrating head injury (PHI) refers to a situation where a projectile has breached the cranium but does not exit it. It constitutes about 0.4% of all head injuries. Several nonmissile materials inserting the skull have been reported. But to our knowledge, never before has any case of PHI caused by a hit of rake been reported. We report a first case of PHI caused by a rake in a child; then, we relate our experience with its management and discuss the relevant literature. Cases Description. A 5-year-old boy has been admitted with a rake embedded in his head. That occurred during a violent play with a neighbor. At presentation, the child was alert; there was no neurological deficit. The rake was embedded in the parietal regions on each side of the midline. The head Computed Tomography (CT) scan performed showed a biparietal hyperdensity from either side of the midline with a metal artifact. In the operating room, after a transversal incision joining the 2 tips of the object, we performed successively bone flaps; object extraction; debridement; duraplasty; and closing. The outcome was uneventful.
Conclusion:
This is the first case of PHI by a rake. The surgical management constitutes the main challenging point.
Case Report: Successful retrieval of a migrated left atrial appendage occluder through the synergistic use of a guidewire and a gooseneck snare
Authors: Yue Bao, Hongwei Yi, Jun Ma, Hongwei Han
Journal: Front Cardiovasc Med (2024)
Keywords: lacbes device, atrial fibrillation, cardiac surgery, embolization, left atrial appendage occluder
MeSH terms: Case Reports

Left atrial appendage occluder (LAAO) dislodgement with embolization is a rare occurrence. If the LAAO migrates into the left atrium or ventricle, it can lead to acute heart failure or even death in a person, necessitating urgent surgical intervention. Currently, most cases of LAAO dislodgement are managed through open-heart surgery, while percutaneous retrieval of the LAAO has been reported only in a few cases with limited associated experience. This article reports a case of a patient in whom a migrated LACbes device was successfully retrieved using a catheter-based approach, demonstrating an innovative and minimally invasive treatment strategy.
Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome
Authors: Mei Sun, Qing Li, Ying Zhang, Yingzi Cai, Yan Dong, Jianbo Shu, Dong Li, Chunquan Cai
Journal: Glob Med Genet (2024)
Keywords: hao-fountain syndrome, usp7, development delay, intellectual disability, whole-exome sequencing
MeSH terms: Case Reports

Background Variants of ubiquitin-specific protease 7 ( USP7 ) gene in humans are associated with a neurodevelopmental disorder-Hao-Fountain syndrome, its core symptoms including developmental delay, intellectual disability, and speech delay. Other variable symptoms can affect multiple systems. In present study, we report two patients with core features from two unrelated consanguineous families originating from the Tianjin Children's Hospital. Methods and Results Genomic DNA was extracted from the peripheral blood samples collected from the probands with their family members and whole-exome sequencing (WES) was used to detect the pathogenic genes in the probands. Suspected variants were subsequently validated by Sanger sequencing. In family 1, WES revealed that the proband carried the de novo variant c.2697A > C (p.Leu899Phe) in USP7 (NM_003470.3). In family 2, WES identified the variant c.3305A > C (p.Asn1102Thr) in USP7 (NM_003470.3) from the proband. Conclusion We reported two cases of Hao-Fountain syndrome caused by novel USP7 variants. In addition, we report the first case of mosaicism with a USP7 variant in Chinese family. Our findings demonstrate the importance of WES in diagnosis of genetic diseases and expands the USP7 variants spectrum in Hao-Fountain syndrome. Moreover, we summarize the cases caused by USP7 variants in the literature. Our study can provide a vital reference for the diagnosis of future cases.
A Rare Case of Small Bowel Obstruction in Pregnancy Due to Adenocarcinoma
Authors: Zainab Almulhim, Sharifah Othman, Mosab Alarfaj, Nasreen Hamadah, Omar Bamalan, Faris Alanazi
Journal: Cureus (2024)
Keywords: hyperemesis gravidarum, pregnancy, small bowel adenocarcinoma, small bowel carcinoma, small-bowel obstruction
MeSH terms: Case Reports

Small bowel obstruction (SBO) rarely occurs in pregnancy, primarily due to the adhesions resulting from previous abdominal surgery. However, malignancy causing SBO during pregnancy is exceedingly rare. We present a case of a 34-year-old pregnant woman who was recently diagnosed with small bowel disease at 19 weeks and two days of gestation and initially managed conservatively. Diagnostic procedures, such as endoscopy or colonoscopy and enterography magnetic resonance imaging (MRI), were postponed due to her pregnancy. With recurrent episodes of worsening symptoms, the patient underwent multiple admissions, during which an abdominal X-ray was performed, revealing dilated loops of the small and large bowel, highly suggestive of SBO. Subsequently, a plain abdominal MRI revealed a stricture in the left lower quadrant, resulting in SBO. Given the absence of a fetal pulse, the patient underwent an emergency laparotomy. Surgical resection involving part of the mass in the terminal ileum was performed, followed by a primary side-to-side anastomosis. Histopathological examination of the resected tissue confirmed the presence of small bowel adenocarcinoma. The successful surgical resection and subsequent histopathological confirmation emphasized the importance of prompt diagnosis and appropriate management. This case underscores the challenges faced in diagnosing and managing small bowel obstruction during pregnancy, particularly when malignancy is the underlying cause. It highlights the need to balance diagnostic investigations with fetal safety. Multidisciplinary collaboration between obstetricians, surgeons, and radiologists is crucial in navigating the complexities of managing such cases and ensuring optimal outcomes for both the mother and the fetus.