OpenMed/multicare-articles huggingface dataset:
A quantitative assay for the assessment of cutaneous human papillomaviruses and polyomaviruses over time: A proof-of-concept in two patients with atopic dermatitis and psoriasis
Authors: Aurélie Du-Thanh, Vincent Foulongne, Olivier Dereure, Marc Eloit, Philippe Pérot
Journal: PLoS One (2024)
MeSH terms: Dermatitis, Atopic, Merkel cell polyomavirus, Papillomavirus Infections, Polyomavirus / genetics, Psoriasis, Skin Diseases, Case Reports, DNA, Viral / analysis, DNA, Viral / genetics, Human Papillomavirus Viruses, Humans, Papillomaviridae / genetics, Real-Time Polymerase Chain Reaction, Skin / microbiology, DNA, Viral

The human skin virome, unlike commensal bacteria, is an under investigated component of the human skin microbiome. We developed a sensitive, quantitative assay to detect cutaneous human resident papillomaviruses (HPV) and polyomaviruses (HPyV) and we first used it to describe these viral populations at the skin surface of two patients with atopic dermatitis (AD) and psoriasis (PSO). We performed skin swabs on lesional and non-lesional skin in one AD and one PSO patient at M0, M1 and M3. After extraction, DNA was amplified using an original multiplex PCR technique before high throughput sequencing (HTS) of the amplicons (named AmpliSeq-HTS). Quantitative results were ultimately compared with monoplex quantitative PCRs (qPCRs) for previously detected viruses and were significantly correlated (R2 = 0.95, ρ = 0.75). Fifteen and 13 HPV types (mainly gamma and beta-HPVs) or HPyV species (mainly Merkel Cell Polyomavirus (MCPyV)) were detected on the skin of the AD and PSO patients, respectively. In both patients, the composition of the viral flora was variable across body sites but remained stable over time in non-lesional skin samples, mostly colonized with gamma-papillomaviruses. In lesional skin samples, beta-papillomaviruses and MCPyV were the major components of a viral flora more prone to vary over time especially with treatment and subsequent clinical improvement. We believe this method might be further used in extensive studies to further enhance the concept of an individual cutaneous viral fingerprint and the putative role of its alterations through various skin diseases and their treatments.
A Case of Immunoglobulin G4-Related Gastrointestinal Disease Diagnosed From Persistent Diarrhea and Abdominal Pain
Authors: Takehiro Hirano, Yujiro Kawakami, Sayaka Nakabayashi, Kohei Wagatsuma, Keisuke Ishigami, Yoshiharu Masaki, Ayako Murota, Masatoshi Kanda, Shintaro Sugita, Kenji Notohara, Hiroshi Nakase
Journal: Gastro Hep Adv (2023)
Keywords: abdominal pain, diarrhea, igg4-related dacryoadenitis and sialadenitis, igg4-related disease, igg4-related gastrointestinal disease, inflammatory disease
MeSH terms: Case Reports

Immunoglobulin G4-related disease (IgG4-RD) is a systemic inflammatory disease characterized by the infiltration of IgG4-positive plasma cells and fibrosis in organs throughout the body. IgG4-RD involvement in the gastrointestinal (GI) tract (IgG4-related GI disease; IgG4-GID) is rare, and the disease concept remains unclear. Generally, IgG4-GID has been reported with morphological changes, including ulcers, strictures, and submucosal tumors. Here, we report a case of IgG4-GID with persistent diarrhea and abdominal pain in which typical endoscopic findings were absent. This case suggests the unidentified clinical features of IgG4-GID.
Management of Recurrent Implantation Failure and Hereditary Thrombophilia: A Case Report
Authors: Tamar Barbakadze, Tengiz Zhorzholadze, Nino Kutchukhidze, Mariam Shervashidze, Tea Charkviani
Journal: Cureus (2024)
Keywords: aging of the endometrium, endometrial receptivity analysis (era), hereditary thrombophilia, oocyte donation, preimplantation genetic testing for aneuploidy (pgt-a), recurrent implantation failure (rif)
MeSH terms: Case Reports

Recurrent implantation failure (RIF) is one of the core problems for assisted reproductive technology (ART). High-quality, euploid embryos and synchronization between the embryonic stage and the uterine endometrial lining are crucial for positive outcomes. Molecular biology techniques have significantly transformed assisted reproductive technology (ART). Numerous couples facing infertility issues have successfully achieved the birth of healthy infants through the application of molecular biology methods: preimplantation genetic testing for aneuploidy (PGT-A) and endometrial receptivity analysis (ERA). Exploring the impact of age on endometrial assays like the endometrial receptivity assay (ERA) yields valuable insights, including the determination of the implantation window and the development of personalized strategies. The authors present the case of a 42-year-old woman who has experienced RIF with euploid embryos, coupled with a hereditary thrombophilia homozygous mutation in the MTHFR genes: A1298C and C677T.
Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes
Authors: Doua Khalid Al Homyani, Lina Al Homaiani
Journal: AACE Clin Case Rep (2023)
Keywords: diabetic ketoacidosis, ins gene, neonatal diabetes
MeSH terms: Case Reports

Background/objective:
Neonatal diabetes is a monogenic type of diabetes mellitus. It arises at the first 6 months of age and can be classified as permanent or transient. There are limited cases of neonates with DKA who have heterozygous mutations in INS and PKHD1 genes, especially in Saudi Arabia. We present a case of neonatal diabetes with diabetic ketoacidosis (DKA) born to consanguineous parents in Saudi Arabia. This study aims to highlight the importance of the genetic mutations associated with neonatal diabetes and identify the clinical manifestation features of neonatal diabetes.
Case report:
A six-month-old boy born to consanguineous parents with a family history of neonatal diabetes was diagnosed with DKA. The case was presented to the emergency department (ED) with vomiting and increased urination for 3 days. The child showed signs of severe dehydration and severe metabolic acidosis with a high anion gap and elevated hemoglobin A1C level (16.3%) was reported. According to the genetic test, the patient had an INS and PKHD1gene mutation. The treatment was initiated according to the DKA protocol, and then he received subcutaneous insulin.
Discussion:
Neonatal diabetes is a condition caused by several gene mutations. In this case, heterozygous mutations in INS and PKHD1 genes were reported. The type of gene mutation could predict neonatal diabetes type, whether permanent or transient, and its response to treatment.
Conclusion:
Genetic testing for neonates soon after birth is suggested for the early detection and classification of neonatal diabetes, especially among children with a family history of neonatal diabetes.
The Effect of Cannabis Use on Depression
Authors: Jhenelle Hutchinson, Saveen Sall, Lee Stevens
Journal: Cureus (2024)
Keywords: cannabis use, cannabis use disorder, emerging adults' cannabis use, endocannabinoid system, major depressive disorder (mdd)
MeSH terms: Case Reports

This article presents the case of a 21-year-old female with a psychiatric history of depression and a history of chronic cannabis use who presented to the emergency department after overdosing on ondansetron and was urine test positive for marijuana (tetrahydrocannabinol (THC)). The patient was later transferred to a psychiatric unit for further evaluation, and after six days of hospitalization and cessation of marijuana, the patient demonstrated gradual improvement in her mental status examination and was deemed fit for discharge with follow-up instructions. This case illustrates the effect of cannabis use and cannabis use disorder on those with major depressive disorder (MDD), the component of cannabis that worsens the symptoms of depression, the role of the endocannabinoid system (ECS) in depression, and available treatments.
Case Report: Camrelizumab combined with gemcitabine and oxaliplatin in the treatment of advanced intrahepatic cholangiocarcinoma: a case report and literature review
Authors: Zhongyan Zhang, Xin Wang, Hehe Li, Huimin Sun, Jianhong Chen, Hongfeng Lin
Journal: Front Immunol (2023)
Keywords: advanced intrahepatic cholangiocarcinoma, chemotherapy, conversion therapy, immunotherapy, surgical resection
MeSH terms: Bile Duct Neoplasms, Cholangiocarcinoma, Review, Case Reports, Bile Ducts, Intrahepatic, Gemcitabine, Humans, Oxaliplatin, camrelizumab, Gemcitabine, Oxaliplatin, gemcitabine-oxaliplatin regimen

Intrahepatic cholangiocarcinoma (ICC) is one of the most common invasive malignant tumors, with a 5-year survival rate of less than 5%. Currently, radical surgical resection is the preferred treatment for ICC. However, most patients are only diagnosed at an advanced stage and are therefore not eligible for surgery. Herein, we present a case of advanced ICC in which radical surgery was not possible due to tumor invasion of the second porta hepatis and right hepatic artery. Six treatment cycles with a gemcitabine and oxaliplatin (GEMOX) regimen combined with camrelizumab immunotherapy achieved a partial response and successful tumor conversion, as tumor invasion of the second porta hepatis and right hepatic artery was no longer evident. The patient subsequently underwent successful radical surgical resection, including hepatectomy, caudate lobe resection, and cholecystectomy combined with lymph node dissection. Cases of patients with advanced ICC undergoing surgical resection after combined immunotherapy and chemotherapy are rare. The GEMOX regimen combined with camrelizumab demonstrated favorable antitumor efficacy and safety, suggesting that it might be a potential feasible and safe conversion therapy strategy for patients with advanced ICC.
Case report: Ectopic corpus cavernosum presented as bladder tumor in a 3-year-old boy
Authors: Jia-Gui Chai, Yan-Liang Zhao, Si-Fan Yin, Zhi-Yuan Yin, Shen-Zhao Zhao, Run-Lin Feng, Chang-Xing Ke
Journal: Front Oncol (2024)
Keywords: bladder tumor, children, ectopic corpus cavernosum, pathology, treatment
MeSH terms: Case Reports

Background:
Ectopic tissue is rarely found in the bladder for adults. Currently, there have been reports of ectopic prostate and colon tissue in the bladder. These ectopic tissues are manifested as a bladder mass and cause lower urinary tract symptoms. However, the ectopic corpus cavernosum in the bladder has never been reported, and its clinical characteristics and treatment have not been explored yet.
Case summary:
A 3-year-old boy was admitted to the hospital due to 1 month of urinary frequency. The physical examination was unremarkable. Urine analysis from other hospitals showed an elevated urine white blood cell count of 17.9/ul. In addition, ultrasound indicated a possible bladder mass. CT and MRI showed a well-margined lesion (1.9×1.9 cm) in the bladder trigone. Through preoperative imaging, we diagnosed a bladder tumor (inclined towards benign). The transurethral resection of the bladder tumor was performed. Unfortunately, the surgery was unsuccessful due to the difficulty in removing the excised tissue through the urethra. Subsequently, bladder incision and tumor resection were performed. The tumor was successfully removed. Surprisingly, the postoperative pathology showed that the tumor tissue was corpus cavernosum. The pathological diagnosis was ectopic corpus cavernosum in the bladder. No complications were found after the operation, and no recurrence was observed during follow-up.
Conclusion:
The ectopic corpus cavernosum in the bladder has never been reported for children, which is presented as a benign tumor with rapid proliferation and large size. Surgery is recommended. However, the transurethral resection of bladder tumors is difficult to perform due to narrow urethra and limited surgical instruments. Bladder incision and tumor resection may be preferred.
Exoscopic microvascular decompression for hemifacial spasm and trigeminal neuralgia
Authors: Hiroki Toda, Hirokuni Hashikata, Ryota Ishibashi
Journal: Neurosurg Focus Video (2024)
Keywords: exoscope, hemifacial spasm, microvascular decompression, trigeminal neuralgia

The 4K 3D exoscope system is becoming increasingly used in neurosurgery. Its 3D ultra-high-definition image is valuable in identifying and dissecting the delicate neural and vascular structures during microvascular decompression. In this video, the authors describe several nuances and details to perform the exoscopic microvascular decompression, including the exoscope layout and the modified supine position. Several illustrative case presentations highlight the benefits of exoscopic surgery. The authors' exoscopic microvascular decompression series of 159 patients showed noninferior surgical outcomes compared to the operative microscope with no significant increase in surgical risk. In conclusion, an exoscope can be a practical alternative to performing microvascular decompression. The video can be found here: https://stream.cadmore.media/r10.3171/2023.10.FOCVID23122.
Partial rupture of the left main bronchus with left lung atelectasis due to blunt chest injury: a case report
Authors: Taiyu Bi, Xiaotian Duan
Journal: Front Med (Lausanne) (2024)
Keywords: blunt chest injury, bronchial rupture, bronchoscopy, pulmonary atelectasis, trauma
MeSH terms: Case Reports

Background:
Bronchial injury is rare in blunt chest trauma, but can be life-threatening. The symptoms of patients with complete bronchial rupture are typical, and most of them are diagnosed in a timely manner and treated with surgery. However, for those with partial rupture of the bronchus, the symptoms are mild, the imaging results are negative, the possibility of delayed diagnosis is high, and serious complications can occur. Early diagnosis and treatment are key to treating this disease.
Case description:
We report a 52-year-old woman with mild mediastinal emphysema after blunt chest trauma. Left whole-lung atelectasis appeared after a period of conservative treatment. Bronchoscopy revealed injury of the left main bronchus, and surgery was performed. The patient's lungs recovered well after surgery. CT (Computed tomography) examination during follow-up revealed that the structure of the left main bronchus was intact and unobstructed. The left lung was well recovered.
Conclusion:
For patients with mild symptoms of blunt chest trauma, mediastinal emphysema and subcutaneous emphysema; no pleural effusion or pneumothorax; and a negative chest CT, laryngoscopy or bronchoscopy should be performed in a timely manner to ensure the stability of the respiratory and circulatory system and confirm whether there is tracheobronchial injury. Surgical treatment should be performed in a timely manner after localization and diagnosis.
HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report
Authors: Chun-Yu Song, Jing Yang, Sheng Jiang, Guo-Li Du
Journal: Front Genet (2024)
Keywords: 17q12 deletion syndrome, ggnbp2, hnf1b, lhx1, mody-5
MeSH terms: Case Reports

17q12 deletion syndrome is a chromosomal abnormality, where there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Sign and symptoms can vary widely among different patients. Recently, a patient was diagnosed with 17q12 deletion syndrome in our hospital, and the clinical characteristics presented as absence of the right kidney, compensatory hypertrophy of the left kidney, multiple small cysts in the left kidney, pancreatic atrophy, hypomagnesemia, bowed uterus, multiple follicular cysts in both lobes of the thyroid gland, and maturity-onset diabetes of the young type 5 (MODY-5). A 1.5-Mb deletion with haploinsufficiency for 20 genes within the 17q12 region was found through copy number variation (CNV) analysis based on metagenomic next-generation sequencing (mNGS) technology. In addition to HNF1B absence, the LIM-class homeobox 1 transcription factor (LHX1) and GGNBP2 absence was also involved in regulation of kidney development and the reproductive system through bioinformatics analysis. The inheriting risk of 17q12 deletion syndrome is about 50%, and it is recommended to provide genetic counseling to all patients who are suspected or diagnosed with the syndrome.
Case report: Efficacy of immunotherapy as conversion therapy in dMMR/MSI-H colorectal cancer: a case series and review of the literature
Authors: María San-Román-Gil, Iñigo Martínez-Delfrade, Víctor Albarrán-Fernández, Patricia Guerrero-Serrano, Javier Pozas-Pérez, Jesús Chamorro-Pérez, Diana Rosero-Rodríguez, Pilar Sotoca-Rubio, Ana Maria Barrill-Corpa, Víctor Alia-Navarro, Carlos González-Merino, Coral García-de-Quevedo-Suero, Victoria López, Ignacio Ruz-Caracuel, Cristian Perna-Monroy, Reyes Ferreiro-Monteagudo
Journal: Front Immunol (2024)
Keywords: colorectal cancer, conversion therapy, immunotherapy, microsatellite instability, neoadjuvant, oligometastatic
MeSH terms: Colorectal Neoplasms / genetics, Colorectal Neoplasms / therapy, Microsatellite Instability, Review, Case Reports, Humans, Immunotherapy, Neoadjuvant Therapy, Research

Immunotherapy has demonstrated a role in the therapeutic landscape of a small subset of patients with colorectal carcinoma (CRC) that harbor a microsatellite instability (MSI-H) status due to a deficient DNA mismatch repair (dMMR) system. The remarkable responses to immune checkpoint inhibitors (ICIs) are now being tested in the neoadjuvant setting in localized CRC, where the dMMR/MSI-H status can be found in up to 15% of patients, with remarkable results obtained in NICHE2 and 3 trials, among others. This case series aims to report our experience at a tertiary center and provide a comprehensive analysis of the possible questions and challenges to overcome if ICIs were established as standard of care in a neoadjuvant setting, as well as the potential role they may have as conversion therapy not only in locoregional advanced CRC but also in oligometastatic disease.
Case report: Adult NTRK-rearranged spindle cell neoplasms with TPM3-NTRK1 fusion in the pelvic
Authors: Qiurui Cao, Zhifang Huang, Hong Liang, Xing Hu, Lucas Wang, Yaxian Yang, Bin Lian, Jian Huang, Jinyan Guo
Journal: Front Oncol (2024)
Keywords: ntrk-rearranged spindle cell neoplasms, tpm3-ntrk1, case report, molecular characteristic, pathology
MeSH terms: Case Reports

NTRK-rearranged spindle cell neoplasms (NTRK-RSCNs) are rare soft tissue tumor molecularly characterized by NTRK gene rearrangement, which occurs mostly in children and young adults, and rarely in adults. The abnormal tumor located in superficial or deep soft tissues of human extremities and trunk mostly, and rarely also involves abdominal organs. In this case, we report a malignant NTRK-RSCN that occurred in the pelvic region of an adult. The patient was found to have a large tumor in the pelvic region with a pathological diagnosis of infiltrative growth of short spindle-shaped tumor cells with marked heterogeneity. Immunohistochemistry of this patient showed positive vimentin, pan-TRK and Ki67 (approximately 60%) indicators with negative S100, Desmin and DOG1. Molecular diagnosis revealed c-KIT and PDGFRα wild type with TPM3-NTRK1 fusion, unfortunately this patient had a rapidly progressive disease and passed away. This case highlights the gene mutation in the molecular characteristics of NTRK-RSCNs, and the significance of accurate molecular typing for the diagnosis of difficult cases.
Pulmonary Renal Syndrome in ANCA-Negative Vasculitis
Authors: Ijeoma Orabueze, Hira Sheikh, Valerie Cluzet
Journal: Cureus (2024)
Keywords: anca vasculitis, anca-negative vasculitis, diffuse alveolar hemorrhage, hemodialysis, plasmapheresis, pulmonary renal syndrome
MeSH terms: Case Reports

Below we highlight a rare case of anti-neutrophil cytoplasmic antibody (ANCA)-negative vasculitis, unique in its own right, as the diagnosis was hard to make and the respiratory decline rapid, with the patient going from a 23% fraction of inspired oxygen (FiO2) on admission to 100% FiO2 within four days for what was initially presumed to be community-acquired pneumonia. Precise data on the incidence or prevalence of ANCA-associated vasculitis are lacking. However, a 20-year population-based study in the United States found that, of 58 incident cases, 9% were ANCA-negative. We present the case of a 69-year-old Egyptian male with worsening shortness of breath who was found to have elevated inflammatory markers and an ANCA-negative panel and was later diagnosed with ANCA-negative vasculitis. By highlighting this case, we aim to increase awareness and point out the need to keep the disease high on the list of differential diagnoses in order to allow for timely intervention. Though there isn't a lot of data available on definitive treatment or the disease itself, there are studies that point to rituximab, cyclophosphamide, plasmapheresis, and hemodialysis as useful interventions for treatment.
Neurocysticercosis: A neglected but preventable cause of seizure in adults
Authors: Prosper Adjei, Vida Obese, Richard Tang, Kingsley Owusu Manu, Yaw Owusu Afriyie Boateng, Eunice Ansomah Donkor
Journal: Clin Case Rep (2024)
Keywords: cysticercosis, neurocysticercosis, taenia solium, epilepsy, focal seizure, neuroimaging
MeSH terms: Case Reports

Neurocysticercosis is an infection of the central nervous system caused by the larval stage of Taenia solium. Although endemic in sub-Saharan Africa, it is neglected but remains a significant cause of preventable seizure in adults. Its diagnosis is challenging and is frequently missed due to its variable clinical manifestations and lack of diagnostic facilities in most areas of sub-Saharan Africa. This report discusses two cases of parenchymal neurocysticercosis in Ghanaians who presented to the emergency unit of a District Hospital with adult-onset seizures. The two cases highlight the need for a high index of suspicion and also underscore the important role of neuroimaging in the evaluation of patients presenting with adult-onset seizures in neurocysticercosis endemic areas. This is necessary for prompt detection and initiation of appropriate therapy in order to improve prognosis.
Complete and early response to cemiplimab associated to severe immune toxicity in advanced cervical cancer: a case report
Authors: Anna Passarelli, Carmela Pisano, Elisabetta Coppola, Jole Ventriglia, Sabrina Chiara Cecere, Marilena Di Napoli, Luciano Carideo, Secondo Lastoria, Sandro Pignata
Journal: Front Immunol (2023)
Keywords: cardiotoxicity, cemiplimab, cervical cancer, hepatotoxicity, immune-related adverse events, immunotherapy, spleen immune activity
MeSH terms: Uterine Cervical Neoplasms / drug therapy, Case Reports, Aged, Antibodies, Monoclonal, Humanized / adverse effects, B7-H1 Antigen, Female, Humans, Neoplasm Recurrence, Local, cemiplimab, B7-H1 Antigen, Antibodies, Monoclonal, Humanized

Cervical cancer (CC) is the second most commonly diagnosed cancer and the third leading cause of cancer death among females. The options of treatment for recurrent/advanced CC are limited and patients experiencing recurrence after first line platinum-based chemotherapy have a poor prognosis. In this context, immune checkpoint inhibitors (ICI)s antagonizing PD-1 and programmed death-ligand 1 (PD-L1) have profoundly changed the treatment scenario and outcomes in CC in the first or subsequent lines both as monotherapies or in combination with chemotherapy or other ICIs. Herein, we report the clinical case of a 74-year-old woman with metastatic CC with negative tumor PD-L1 expression who having disease progression after first-line of systemic treatment with platinum, thus undergoing to anti-PD-1 namely cemiplimab. The patient achieved a surprising, fast and complete metabolic response to cemiplimab immediately discontinued after only two cycles due to the onset of rare and severe immune-related adverse events (irAE)s such cardiovascular toxicity and hypertransaminasemia. Despite this, thirteen months later, the patient remains disease-free despite cemiplimab was withdrawn.