OpenMed/multicare-articles huggingface dataset:
An integrative morpho-molecular approach in malignant ectomesenchymoma diagnosis: report of a new paediatric case and a review of the literature
Authors: Francesco Pellegrino, Elisa Tirtei, Federico Divincenzo, Anna Campello, Carlotta Rubino, Elisabetta Augustoni, Alessandra Linari, Sebastian Dorin Asaftei, Franca Fagioli
Journal: Front Oncol (2024)
Keywords: malignant ectomesenchymoma, morpho-molecular analysis, next generation sequencing, pediatric oncology, soft tissue tumor
MeSH terms: Review

Introduction:
Malignant ectomesenchymoma (MEM) is a soft tissue tumour, consisting of both malignant neuroectodermal elements and one or more mesenchymal elements.
Case presentation and review of the literature:
Here we describe the case of a 6-months-old male, previously treated in another hospital for abdominal rhabdomyosarcoma (RMS). Histological re-examination demonstrated that the tumour had mesenchymal and neuroectodermal elements components, with a new diagnosis of abdominal-pelvic MEM. A Next-Generation Sequencing (NGS) analysis was performed on a surgical tumour specimen and revealed the presence of a somatic mutation, already reported in MEM cases. We carried out a review of the literature and we found 33 new cases of MEM since the last review. We reported the clinic-pathologic features of new cases of MEM, highlighting the role of molecular studies in supporting the diagnosis of this ambiguous tumours.
Conclusion:
We promote the importance of a diagnosis based on an integrative morpho-molecular approach, that routinely include molecular analysis and the use of bioinformatic mutation detection tools, to support diagnostic and therapeutical queries and to highlight tumour biology and behaviour.
Case report: Increased efficacy of cetuximab after pembrolizumab failure in cutaneous squamous cell carcinoma
Authors: Renee Morecroft, Jordan Phillipps, Alice Zhou, Omar Butt, Karam Khaddour, Tanner Johanns, George Ansstas
Journal: Front Oncol (2024)
Keywords: antiepidermal growth factor receptor, case report, cetuximab, cutaneous oncology, cutaneous squamous cell carcinoma, immunotherapy, pembrolizumab
MeSH terms: Case Reports

Immunotherapy is the first-line option for treating advanced cutaneous squamous cell carcinoma (cSCC). However, up to half of patients experience no benefit and treatment resistance, warranting newer therapeutic approaches. Combinatory approaches, including cetuximab, may help overcome immunotherapy resistance and improve response rates in advanced cSCC. We report three cases of metastatic cSCC that achieved significant clinical responses after cetuximab therapy following initial progression on pembrolizumab. We have retrospectively reviewed these cases at a single academic center between 2018 and 2023. All patients initially progressed on pembrolizumab, after which cetuximab (mono- or combination therapy) was added with two complete responses and one partial response. Initial responses were noted within 2 to 7 months of starting cetuximab. While the benefit of cetuximab and immunotherapy in head-and-neck squamous cell carcinoma has growing evidence, information regarding cSCC remains limited. This study adds three cases to the underreported literature on treating advanced cSCC with cetuximab after initially failing immunotherapy.
Case report: Robust response to sintilimab in advanced distal cholangiocarcinoma with PD-L1 expression and DNA damage repair
Authors: Wenguang He, Congcong Song, Jiwei Ren, Xiao Ji, Xiuyan Wang, Lixia Liu
Journal: Front Pharmacol (2024)
Keywords: dna damage repair, pd-l1, cholangiocarcinoma, complete response, sintilimab
MeSH terms: Case Reports

Cholangiocarcinoma (CCA) is a highly heterogeneous tumor that occurs in the bile duct epithelium; adenosquamous carcinoma is a rare pathological subtype of CCA. The clinical treatment of patients with metastatic distal CCA poses significant challenges. We report a 53-year-old female diagnosed with a stage III adenosquamous carcinomas of distal CCA. Metastasis occurred 4 months postoperatively and she was diagnosed with stage IV disease. The patient was treated with Gemcitabine + Oxaliplatin (GEMOX) and Capecitabine + Oxaliplatin (CAPEOX), followed by sintilimab monotherapy. After two cycles of treatment, the patient achieved partial response (PR) and the lesion continued to shrink. After 37 months of follow-up, the patient's liver metastasis had almost completely disappeared, and complete response (CR) was achieved. Moreover, she had more than 46 months of disease progression-free survival (PFS). Immunohistochemical testing showed high expression of PD-L1, and next-generation sequencing revealed the presence of mutations in DNA damage repair (DDR) pathway genes. To the best of our knowledge, this is the first reported case of the successful treatment of metastatic distal adenosquamous CCA with sintilimab alone. Remarkably, patients of CCA with high PD-L1 expression and DDR pathway gene mutations may benefit from sintilimab treatment.
A Rare Case of Tuberculosis Revealed by Acute Appendicitis: A Case Report
Authors: Fouad Haddad, Malak Afifi, Fatima Zahra El Rhaoussi, Mohamed Tahiri, Wafaa Hliwa, Ahmed Bellabah, Sanaa Hachimi, Nisrine Bennani Guebessi, Badre Wafaa
Journal: Cureus (2024)
Keywords: acute appendicitis, appendicular tuberculosis, epithelioid granuloma, extrapulmonary tuberculosis (eptb), morocco
MeSH terms: Case Reports

According to the World Health Organization (WHO), tuberculosis (TB) is the 13th cause of death worldwide and the second infectious killer after HIV. It is an endemic disease in Morocco. Isolated appendicular TB is an uncommon form of extrapulmonary TB. We report a case of a 26-year-old woman admitted for acute abdominal pain in the right iliac fossa with fever, vomiting, and diarrhea. Physical examination and abdominal ultrasound confirmed appendicitis. Surgery was performed and revealed on histopathological examination of the resected appendix the diagnosis of tubercular appendicitis. The patient was initiated on the conventional antitubercular regimen for six months and would be followed up appropriately. This case report highlights the importance of histopathological examination of appendicectomy specimens in order to diagnose rare diseases such as primary TB of the appendix.
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease
Authors: Nada Alamri, Matthew B Lanktree
Journal: Can J Kidney Health Dis (2024)
Keywords: adpkd, hnf1b-related kidney disease, hnf1beta nephropathy, genetic diagnosis, kidney cysts
MeSH terms: Case Reports

Rationale:
Hepatocyte nuclear factor 1 beta (HNF1B) nephropathy is a rare autosomal dominant monogenic kidney disease. We present a case mimicking autosomal dominant polycystic kidney disease (ADPKD), highlighting the phenotypic heterogeneity of HNF1B-related disease.
Presenting concerns of the patient:
A 37-year-old man presented with hypertensive urgency, accompanied by flank pain and abdominal distension. Despite the absence of familial kidney disease, imaging revealed large bilateral kidney cysts resembling ADPKD.
Diagnosis:
We initially suspected de novo ADPKD. However, negative genetic testing results for PKD1 and PKD2 led to a 43-gene cystic kidney sequencing panel which identified a deletion encompassing the entire HNF1B gene.
Intervention:
To alleviate discomfort caused by the kidney cysts, ultrasound-guided aspiration and foam sclerotherapy were performed. Tolvaptan, used for treating high-risk ADPKD, was not prescribed after confirming the diagnosis was HNF1B nephropathy.
Outcomes:
A diagnosis of HNF1B nephropathy was reached following gene panel testing. Abdominal symptoms improved following cyst aspiration and foam sclerotherapy.
Novel findings:

HNF1B nephropathy has a variable presentation but can lead to cysts appearing like ADPKD. A 43-gene cystic kidney sequencing panel identified the diagnosis in this uncertain case.
Biliary adenofibroma: a precursor lesion of intrahepatic cholangiocarcinoma
Authors: Mayur Parkhi, Rashmi Joshi, Manish Kumar, Aditi Sharma, Suvradeep Mitra, Lileswar Kaman
Journal: Autops Case Rep (2023)
Keywords: adenofibroma, biliary tract, cholangiocarcinoma, liver
MeSH terms: Case Reports

Biliary adenofibroma (BAF) is an uncommon liver tumor with a high propensity for malignant transformation. The histomorphology of BAF with malignant transformation can show a spectrum of changes ranging from benign, dysplastic to frank malignancy. Thus, the diagnosis of BAF imposes the pursuit of dysplasia/ malignancy focus. We presented a case of intrahepatic cholangiocarcinoma arising from BAF in a 49-year-old woman with detailed histomorphology. We also performed a PubMed database search and tabulated all previously reported cases of BAF with dysplasia/ malignant transformation. A statistic comparison of age, sex ratio, size of the tumor, and survival following complete resection between BAFs with and without dysplasia/ malignancy from the retrieved data is presented. Our analysis did not highlight any statistically significant difference between BAFs with and without dysplasia/ malignancy in age, sex ratio, tumor size, and survival following complete surgical resection. Our study highlights the histopathology and immunohistochemistry of a case of BAF with malignant transformation and highlights the importance of this diagnosis in management. Further longitudinal studies on a larger cohort of patients are required to validate our findings.
Clinical approach and utilizing liquid biopsies to interrogate suspected acquired resistance to PD-1 blockade
Authors: Dilanka Lakshan De Silva, Jia Luo
Journal: Future Sci OA (2024)
Keywords: pd-1 blockade, acquired resistance to immunotherapy, liquid biopsy, molecular sequencing, non-small cell lung cancer, personalized medicine, precision medicine
MeSH terms: Case Reports

PD-1 blockade is now routine for nearly all patients with non-small lung cancer. Acquired resistance to PD-1 blockade - defined generally as an initial response followed later by progression [1-3] is a common yet poorly understood concept. A key clinical challenge to insight has been a lack of standard guidance for clinical management of a case of suspected acquired resistance. The infrequency of performing tumor biopsies and the uncertainty of actionability from tissue sampling likely also contribute to limited insight into the biology of acquired resistance [4]. To address this knowledge gap and to highlight the value of tumor and liquid biopsy, we present a representative case of suspected acquired resistance to PD-1 blockade and propose a multi-modal guide for approaching this clinical scenario.
Microsurgical central lymphatic reconstruction-the role of thoracic duct lymphovenous anastomoses at different anatomical levels
Authors: Andrea Weinzierl, Lisanne Grünherz, Gilbert Dominique Puippe, Ralph Gnannt, Donata von Reibnitz, Pietro Giovanoli, Diana Vetter, Ueli Möhrlen, Moritz Wildgruber, Andreas Müller, Claus Christian Pieper, Christian Alexander Gutschow, Nicole Lindenblatt
Journal: Front Surg (2024)
Keywords: central lymphatic reconstruction, lymphatic surgery, lymphovenous bypass, microsurgery, robotic microsurgery, thoracic duct anastomosis, thoracic duct lymphovenous bypass

Introduction:
In recent years advances have been made in the microsurgical treatment of congenital or acquired central lymphatic lesions. While acquired lesions can result from any surgery or trauma of the central lymphatic system, congenital lymphatic lesions can have a variety of manifestations, ranging from singular thoracic duct abnormalities to complex multifocal malformations. Both conditions may cause recurrent chylous effusions and downstream lymphatic congestion depending on the anatomical location of the thoracic duct lesion and are associated with an increased mortality due to the permanent loss of protein and fluid.
Methods:
We present a case series of eleven patients undergoing central lymphatic reconstruction, consisting of one patient with a cervical iatrogenic thoracic duct lesion and eleven patients with different congenital thoracic duct lesions or thrombotic occlusions.
Results:
Anastomosis of the thoracic duct and a nearby vein was performed on different anatomical levels depending on the underlying central lymphatic pathology. Cervical (n = 4), thoracic (n = 1) or abdominal access (n = 5) was used for central lymphatic reconstruction with promising results. In 9 patients a postoperative benefit with varying degrees of symptom regression was reported.
Conclusion:
The presented case series illustrates the current rapid advances in the field of central microsurgical reconstruction of lymphatic lesions alongside the relevant literature.
Ureteral stent encrustation in an HIV patient treated with disposable flexible ureteroscope: a case report
Authors: Lin Xiong, Nga-Nuen Loo, Zhen-Quen Lu, Xiang Xu, Genggeng Wei
Journal: Pan Afr Med J (2024)
Keywords: human immunodeficiency virus, case report, ureteroscope, urolithiasis
MeSH terms: HIV Infections / complications, Kidney Calculi / diagnostic imaging, Kidney Calculi / surgery, Lithotripsy / adverse effects, Lithotripsy / methods, Stents / adverse effects, Ureteroscopy / adverse effects, Case Reports, Adult, Disposable Equipment, Humans, Laparoscopy, Male, Tomography, X-Ray Computed, Treatment Outcome, Ureteroscopes

Human immunodeficiency virus prevalence was increasing worldwide. Medication-associated urinary calculi are very commonly caused by medications used to treat HIV-positive patients. We present a case of an HIV-positive 39-year-old male with ureteral stent encrustation and kidney stone. Ureterolithotripsy using a disposable flexible ureteroscope is performed. The postoperative evolution was favorable. The disposable flexible ureteroscope is effective in the treatment of HIV combined with ureteral stent encrustation.
Deep brain stimulation and suicide attempts in treatment-resistant patients: a case report and neuroethical analysis
Authors: Ambra D'Imperio, Marcello Ienca
Journal: Front Psychiatry (2024)
Keywords: dbs (deep brain stimulation), case report, multiple system atrophy parkinsonian predominant type, neuroethical considerations, suicidality
MeSH terms: Case Reports

This case presents the situation of a 66-year-old woman diagnosed with Multiple System Atrophy Parkinsonian Type who underwent deep brain stimulation (DBS) therapy and subsequently made two suicide attempts. Despite receiving treatment and extensive psychotherapy, her condition did not improve, leading to suicidal behavior over the course of a year. Notably, she held unrealistic beliefs about the effectiveness of DBS therapy, expressing dissatisfaction with its outcomes. Family dynamics were complex, with the patient concealing her psychological distress while coping with her worsening health condition. This severe distress culminated in two suicide attempts within a relatively short timeframe. Our psychiatric team promptly intervened, implementing a suicidality protocol and adjusting her medication regimen. Despite a documented prevalence of suicidal ideation and attempts post-DBS in the literature, the exact causes remain uncertain, with the suggested involvement of neuroimmune or neurological pathways. This case contributes to scientific understanding by shedding light on suicide attempts following ineffective DBS interventions, emphasizing the patient's right to be informed about potential suicide risks and the possibility of assisted suicide through a neuroethical analysis. Therefore, our case underlines the importance of psychiatric evaluation and intervention in DBS patients to prevent further suicidality, focusing on a multidisciplinary approach tailored to the patient's autonomy and neuroethical principles.
A case report of acute intermittent porphyria leading to severe disability
Authors: Jie Lin, Jinzhi Liu, Aihua Wang, Zhihua Si
Journal: Front Neurol (2024)
Keywords: abdominal pain, acute intermittent porphyria, epilepsy, limb weakness, psychiatric abnormalities
MeSH terms: Case Reports

Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder resulting from increased production of porphyrins and their precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG), due to deficiencies in the enzymatic activity of the heme synthesis pathway. The disease is typically characterized by a triad of abdominal pain, neurologic impairment symptoms, and psychiatric abnormalities. However, only a small percentage of patients present with this classic triad of symptoms. Our female patient, aged 23, was admitted to the hospital with a 4-year history of abnormal mood episodes and weakness in the limbs for over 1 week. She had a previous medical history of intestinal obstruction. After admission, a cranial MRI revealed reversible posterior leukoencephalopathy imaging manifestations, and the patient exhibited weakness of the extremities, respiratory failure, seizures, and severely reduced serum sodium concentration. The diagnosis of AIP was ultimately confirmed by a positive urine PBG-sunlight test and analysis of HMBS gene variants. The absence of typical triadic signs in acute attacks of AIP can make early recognition of the disease challenging. We present a case with multiple typical clinical manifestations of AIP in the hope of aiding clinicians in fully recognizing acute intermittent porphyria.
The surgical management of a patient with Fuchs endothelial dystrophy and cataracts
Authors: Alina Gabriela Gheorghe, Ana Maria Arghirescu, Andrei Coleașă, Ancuța Georgiana Onofrei
Journal: Rom J Ophthalmol (2024)
Keywords: dmek, fuchs endothelial dystrophy, cataract surgery, penetrating keratoplasty
MeSH terms: Cataract Extraction, Cataract / complications, Cataract / diagnosis, Corneal Transplantation, Fuchs' Endothelial Dystrophy / diagnosis, Fuchs' Endothelial Dystrophy / surgery, Case Reports, Humans, Keratoplasty, Penetrating

Objective: To report the two different surgical approaches in the case of a patient with Fuchs endothelial dystrophy with low endothelial cell count and advanced cataracts. Methods: The chosen surgical approach differed between eyes, with the right eye undergoing a combined approach consisting of cataract surgery, intraocular lens implantation, and penetrating keratoplasty in 2022. One year later, for the left eye, a different approach was decided: cataract surgery followed by Descemet membrane endothelial keratoplasty (DMEK). The Descemet membrane graft was prepared by the surgeon using the liquid bubble technique. AS-OCT was used to monitor the patient before and after surgery. Results: Visual recovery was excellent for both eyes, however, visual acuity improved quickly in the left eye (DMEK), while, in the right eye (PK), the best corrected visual acuity was reached after several months post-surgery. Conclusion: Advanced stages of Fuchs dystrophy patients will most likely need corneal transplantation. Each type of corneal transplantation procedure comes with unique challenges, both intraoperative and postoperative. DMEK is a very good treatment option for patients with Fuchs endothelial dystrophy, with excellent visual recovery and good graft survival at the 10-year mark. Abbreviations: DMEK = Descemet membrane endothelial keratoplasty, PK = penetrating keratoplasty, AS-OCT = anterior segment optical coherence tomography, FECD = Fuchs endothelial corneal dystrophy, BCVA = best corrected visual acuity, US = ultrasound, CDE = cumulative dissipated energy, IOL = intraocular lens.
NFIA haploinsufficiency: case series and literature review
Authors: Gianluca Dini, Alberto Verrotti, Paolo Gorello, Luca Soliani, Duccio Maria Cordelli, Vincenzo Antona, Amedea Mencarelli, Davide Colavito, Paolo Prontera
Journal: Front Pediatr (2023)
Keywords: nfia, genetics, intellectual disability, neurodevelopmental disorders, pediatrics

Background:

NFIA-related disorder (OMIM #613735) is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment and non-specific dysmorphic features. To date, fewer than thirty patients affected by this disorder have been described.
Methods:
Our study included three children with NFIA haploinsufficiency recruited from three medical genetics centers. Clinical presentations were recorded on a standardized case report form.
Results:
All patients presented a variable degree of intellectual disability. None of the individuals in our cohort had urinary tract malformations. Three novel mutations, c.344G>A, c.261T>G, and c.887_888del are reported here.
Conclusion:

NFIA haploinsufficiency can be suspected through careful observation of specific dysmorphisms, including macrocephaly and craniofacial abnormalities. Instrumental tests such as MRI and renal ultrasound provide further diagnostic clues, while genetic testing can confirm the diagnosis.
Vogt-Koyanagi-Harada Syndrome (VKHS): First Two Cases Reported in Pediatric Age Group in Oman
Authors: Samiya Al Hashmi, Nasra Al Habsi, Safiya Al Abrawi
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

The Vogt-Koyanagi-Harada syndrome (VKHS) is a unique form of granulomatous autoimmune disease that mostly impacts the pigmented tissues of the body. The main feature is bilateral granulomatous panuveitis, which is detected on ophthalmologic examination, along with additional systemic signs such as vitiligo, white hair, neurological involvement, or hearing loss. This study aims to report two cases of Vogt-Koyanagi-Harada syndrome presented in the children age group, which is unusual and very rare, to improve recognition of this disease to avoid complications and delay referral.
An Extremely Rare and Aggressive Case of Undifferentiated Carcinoma With Osteoclast-Like Giant Cells of the Pancreas Presenting as a Paraneoplastic Syndrome: A Case Report and Literature Review
Authors: Mohammed N AlAli, Ghada I Alothman, Mohamed S Essa, Muath Alrashed, Sadiq M Amer, Farah ALMuqrin, Abdullah M Albdah, Ossama Alamri
Journal: Cureus (2024)
Keywords: dermatomyositis, malignancy, pancreatic cancer, paraneoplastic syndrome, undifferentiated carcinoma with osteoclast-like giant cells
MeSH terms: Case Reports

Undifferentiated carcinoma with osteoclast-like giant cells (UC-OGC) is a rare tumor type of pancreatic cancer. Paraneoplastic syndromes, an idiopathic inflammatory myositis characterized by various skin manifestations (such as dermatomyositis (DM)), cannot be attributed to the primary tumor itself. Here, we report an unusual case of UC-OGC presenting as a paraneoplastic syndrome, the first reported from Saudi Arabia and the Arabian Gulf states. A 49-year-old Eritrean woman with known DM was referred to our hospital with a left-sided pleural effusion. Computed tomography of the abdomen revealed a large necrotic splenic mass (~17 × 12.9 × 18.2 cm). The patient underwent exploratory laparotomy with en bloc resection of the mass (splenectomy, distal pancreatectomy, and partial excision of the left hemidiaphragm). Following a histopathological examination of the mass, UG-OGC of the pancreas, presenting as a paraneoplastic syndrome, was diagnosed. To our knowledge, this case is the first to present a paraneoplastic syndrome associated with UC-OGC. The identification of an exceedingly rare tumor presenting atypically as a paraneoplastic syndrome shows the importance of conducting comprehensive examinations of patients with malignancies, emphasizing the need for more reports of similar cases.