OpenMed/multicare-articles huggingface dataset:
Congenital Syngnathia; Turmoils and Tragedy
Authors: Yogesh Kumar Sarin, Prince Raj, Mona Arya, Jaspal Singh Dali
Journal: J Neonatal Surg (2017)
Keywords: cleft palate, congenital syngnathia
MeSH terms: Case Reports

Congenital syngnathia is an extremely rare condition with no standardized treatment. We hereby report a case highlighting the difficulties faced in its management and the postoperative complications.
Case Report and Literature Review of Cardiac Amyloidosis: A Not-So-Rare Cause of Heart Failure
Authors: Patrícia Baptista, Sofia Moura de Azevedo, André Alexandre, André Dias-Frias
Journal: Cureus (2023)
Keywords: al amyloidosis, cardiac amyloidosis, non-invasive multimodality diagnosis, restrictive cardiomyopathy, transthyretin amyloidosis
MeSH terms: Case Reports

Restrictive cardiomyopathy secondary to cardiac amyloidosis is an underdiagnosed cause of heart failure and it is associated with significant morbidity and mortality. The most common types of amyloidosis are light chain amyloidosis, transthyretin amyloidosis and secondary amyloidosis. We report the case of a 84-year-old man that presented with new onset signs and symptoms of heart failure. Multimodality imaging with echocardiogram and bone tracer cardiac scintigraphy along with biomarkers, monoclonal proteins analysis and genetic test allowed to diagnosed a wild-type transthyretin amyloidosis. We discuss the clinical and diagnostic features and review the current literature about cardiac amyloidosis. This paper aims to increase clinicians' awareness of cardiac amyloidosis to promptly recognize, diagnose and treat it.
Recurrent nasopharyngeal rhinosporidiosis: Case report from Qatar and review of the literature
Authors: Gawahir M Ali, Wael Goravey, Samir A Al Hyassat, Mahir Petkar, Muna A Al Maslamani, Hamad Abdel Hadi
Journal: IDCases (2020)
Keywords: dapsone, mucosal polyps, qatar, rhinosporidiosis
MeSH terms: Case Reports

Rhinosporidiosis is a chronic granulomatous infectious disease that predominantly affects the mucosal membranes of the nose and nasopharynx. The disease is caused by Rhinosporidium seeberi, an eukaryotic pathogen with distinct geographical distribution particularly in tropical and subtropical areas acquired mainly through aquatic exposure. We report a case of a young Nepalese male who presented with recurrent right nasopharyngeal mass where surgical excision and histopathological examination confirmed the diagnosis following distinct pathognomonic findings. There is no optimal effective management of the disease and surgical excision coupled with cauterization to prevent recurrence is the recommended best option since medical treatment alone is ineffective. The clinical presentation, assessment and management options are reviewed.
Pancreatic Neuroendocrine Tumor with Benign Serous Cystadenoma: A Rare Entity
Authors: Randhir Sagar Yadav, Ashik Pokharel, Shumneva Shrestha, Ashbita Pokharel, Deepshikha Gaire, Sumita Pradhan, Prasan Bir Singh Kansakar
Journal: Case Rep Oncol Med (2021)
MeSH terms: Case Reports

Mixed serous-neuroendocrine neoplasm constitutes pancreatic serous cystic neoplasms and pancreatic neuroendocrine tumor, two tumor components with different underlying pathologies. The differentiation of these tumors is important as the management and prognosis depend on the pancreatic neuroendocrine tumor component. We report a case of mixed serous-neuroendocrine neoplasm in a 47-year-old female who presented with epigastric pain abdomen for two years. Imaging studies, tumor markers, thorough systemic evaluation, surgical resection, histopathological examination, and timely follow-up constituted our management approach. A 4 cm × 4 cm mass in the distal pancreas with multiple cysts in the pancreatic parenchyma containing serous fluid on distal pancreatectomy and splenectomy was found. The histopathological examination revealed combined benign serous cystadenoma and neuroendocrine tumor. She did not have any recurrence or metastasis by four years of follow-up.
Creation of personalised rib prostheses using a statistical shape model and 3D printing: Case report
Authors: Antonia A Pontiki, Savvas Lampridis, Sara De Angelis, Pablo Lamata, Richard Housden, Giulia Benedetti, Andrea Bille, Kawal Rhode
Journal: Front Surg (2022)
Keywords: 3d printing, case report, chest wall, non-small cell lung cancer, prosthesis, statistical shape model
MeSH terms: Case Reports

Management of chest wall defects after oncologic resection can be challenging, depending on the size and location of the defect, as well as the method of reconstruction. This report presents the first clinical case where patient-specific rib prostheses were created using a computer program and statistical shape model of human ribs. A 64-year-old male was diagnosed with non-small-cell lung cancer originating in the right upper lobe and invading the lateral aspect of the 3rd, 4th, and 5th ribs. Prior to surgical resection, a statistical shape model of human ribs was created and used to synthesise rib models in the software MATLAB (MathWorks, Natick, MA, USA). The patient's age, weight, height, and sex, as well as the number and side of the ribs of interest, were the inputs to the program. Based on these data, the program generated digital models of the right 3rd, 4th, and 5th ribs. These models were 3D printed, and a silicone mould was created from them. The patient subsequently underwent right upper lobectomy with en bloc resection of the involved chest wall. During the operation, the silicone mould was used to produce rigid prostheses consisting of methyl methacrylate and two layers of polypropylene mesh in a "sandwich" fashion. The prosthetic patch was then implanted to cover the chest wall defect. Thirty days after the surgery, the patient has returned to his pre-disease performance and physical activities. The statistical shape model and 3D printing is an optimised 3D modelling method that can provide clinicians with a time-efficient technique to create personalised rib prostheses, without any expertise or prior software knowledge.
Case report: A case study on the treatment using icaritin soft capsules in combination with lenvatinib achieving impressive PR and stage reduction in unresectable locally progressive pancreatic cancer and a literature review
Authors: Xiaolong Liu, Feimin Yang, Dunmao Jia, Xinyu Dong, Yizhuo Zhang, Zhengrong Wu
Journal: Front Genet (2023)
Keywords: advanced pancreatic cancer, combined treatment, icaritin soft capsules, lenvatinib, tumor downstaging
MeSH terms: Case Reports

Background: Pancreatic cancer is one of the most deadly malignancies in the world. It is characterized by rapid progression and a very poor prognosis. The five-year survival rate of pancreatic cancer in China is only 7.2%, which is the lowest among all cancers and the use of combined paclitaxel albumin, capecitabine, and digital has been the clinical standard treatment for advanced pancreatic cancer since 1997. Also, the application of multidrug combinations is often limited by the toxicity of chemotherapy. Therefore, there is an urgent need for a more appropriate and less toxic treatment modality for pancreatic cancer. Case presentation: The patient was a 79-year-old woman, admitted to the hospital with a diagnosis of unresectable locally advanced pancreatic cancer (T3N0M0, stage IIA), with its imaging showing overgrowth of SMV involvement and unresectable reconstruction of the posterior vein after evaluation. As the patient refused chemotherapy, lenvatinib (8 mg/time, qd) and icaritin soft capsules (three tablets/time, bid) were recommended according to our past experience and a few clinical research cases. The tumor lesion was greatly reduced by 57.5% after the treatment, and the extent of vascular involvement also decreased. The aforementioned medication resulted in a significant downstaging of the patient's tumor. Conclusion: Better results were achieved in the treatment with icaritin soft capsules and lenvatinib in this case. Because of its less toxic effect on the liver and kidney and bone marrow suppression, it was suitable to combine icaritin soft capsules with targeted drugs for treating intermediate and advanced malignancies, which brings hope to patients who cannot or refuse to take chemotherapy.
Anesthesia and Intensive Care Management in a Pregnant Woman with PRES: A Case Report
Authors: Ismail Demirel, Ayse Belin Ozer, Mustafa K Bayar, Salih Burcin Kavak
Journal: Case Rep Anesthesiol (2012)

Posterior reversible encephalopathy syndrome (PRES) is a temporary condition that is diagnosed clinically, neurologically, and radiologically. Its symptoms vary, and nonspecific headaches, confusion, impairment of consciousness, nausea, vomiting, and visual impairment may occur. Acute hypertension often accompanies these symptoms. Patients can also suffer from convulsions, cortical visual impairment, and coma. Diagnosis can be difficult due to focal neurologic signs. Nevertheless, knowing the clinical risk factors can lead to the right diagnosis. It has been reported that this condition may also occur during organ transplantation, immunosuppressive treatment, and autoimmune diseases and chemotherapy, and also patients with eclampsia. In this paper, a 21-year-old, 31-week pregnant woman, who had been diagnosed with PRES and thanks to early diagnosis and treatment had fully recovered and discharged from the intensive care unit, is presented, and the relevant literature is discussed.
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation
Authors: Marco Cattalini, Jessica Galli, Fiammetta Zunica, Rosalba Monica Ferraro, Marialuisa Carpanelli, Simona Orcesi, Giovanni Palumbo, Lorenzo Pinelli, Silvia Giliani, Elisa Fazzi, Raffaele Badolato
Journal: Front Pediatr (2021)
Keywords: aicardi-goutières syndrome, jak-inhibitor, interferonopathies, ruxolitinib, type i interferon
MeSH terms: Case Reports

Type I Interferonopathies comprise inherited inflammatory diseases associated with perturbation of the type I IFN response. Use of Janus kinase (JAK) inhibitors has been recently reported as possible tools for treating some of those rare diseases. We describe herein the clinical picture and treatment response to the JAK-inhibitor ruxolitinib in a 5-year-old girl affected by Aicardi-Goutières Syndrome type 6 (AGS6) due to ADAR1 mutation. The girl's interferon score (IS) was compared with that of her older brother, suffering from the same disorder, who was not treated. We observed a limited, but distinct neurological improvement (Gross Motor Function and Griffiths Mental Development Scales). Analysis of IS values of the two siblings during the treatment showed several changes, especially related to infections; the IS values of the child treated with ruxolitinib were consistently lower than those measured in her brother. Based on these observations we suggest that the use of ruxolitinib in children with the same condition might be effective in inhibiting type I interferon response and that starting this therapy at early age in children with AGS could mitigate the detrimental effects of type I interferon hyperproduction.
Granulomatosis With Polyangiitis in a Patient on Programmed Death-1 Inhibitor for Advanced Non-small-cell Lung Cancer
Authors: Anne Sibille, Romain Alfieri, Olivier Malaise, Nancy Detrembleur, Michelle Pirotte, Renaud Louis, Bernard Duysinx
Journal: Front Oncol (2019)
Keywords: anti-pd-1 antibody, granulomatosis with polyangiitis, immune checkpoint inhibitor, immune-related adverse events, non-small-cell lung cancer
MeSH terms: Case Reports

Objectives: To contribute to a precise and thorough knowledge of immune-related adverse events (irAE) induced by immune checkpoint inhibitors (ICI) and to emphasize the importance of this specific form of toxicity in terms of potential predictive value and long-term effects. Materials and Methods: We report the first case of granulomatosis with polyangiitis (GPA) in a patient treated with an anti-Programmed Death protein-1 (PD-1) antibody for advanced non-small-cell lung cancer (NSCLC). Results: After a single dose of this drug the patient showed severe myositis associated with a high anti-PR3 anti-neutrophil cytoplasmic antibody titer. Discontinuation of the anti-PD-1 and introduction of corticoids led to a remission of the irAE. Regarding tumor a partial response was noted. A year later a neutrophilic, sterile pleural exudate and cutaneous lesions appeared with the pathological findings of neutrophilic vasculitis. Retreatment with corticoids induced a new remission of symptoms. It remains unclear whether GPA was preexisting and clinically silent but revealed by the use of ICI or primarily induced by this treatment. Conclusions: irAE are rare when anti-PD-1 antibodies are used in monotherapy. They present with a distinct clinical picture and temporal course and require specific treatment. Patients with irAE usually have a favorable oncological outcome.
Case report: Long-term follow-up of a large full-thickness skin defect treated with a photosynthetic scaffold for dermal regeneration
Authors: Miguel L Obaíd, Felipe Carvajal, Juan Pablo Camacho, Rocío Corrales-Orovio, Ximena Martorell, Juan Varas, Wilfredo Calderón, Christian Dani Guzmán, Marianne Brenet, Margarita Castro, Cecilia Orlandi, Sebastián San Martín, Antonio Eblen-Zajjur, José Tomás Egaña
Journal: Front Bioeng Biotechnol (2022)
Keywords: case report, long term treatment, photosyntetic scaffold, photosynthetic biomaterial, tissue engineering, wound regeneration
MeSH terms: Case Reports

It is broadly described that almost every step of the regeneration process requires proper levels of oxygen supply; however, due to the vascular disruption in wounds, oxygen availability is reduced, being detrimental to the regeneration process. Therefore, the development of novel biomaterials combined with improved clinical procedures to promote wound oxygenation is an active field of research in regenerative medicine. This case report derives from a cohort of patients enrolled in a previously published ongoing phase I clinical trial (NCT03960164), to assess safety of photosynthetic scaffolds for the treatment of full skin defects. Here, we present a 56 year old patient, with a scar contracture in the cubital fossa, which impaired the elbow extension significantly affecting her quality of life. As part of the treatment, the scar contracture was removed, and the full-thickness wound generated was surgically covered with a photosynthetic scaffold for dermal regeneration, which was illuminated to promote local oxygen production. Then, in a second procedure, an autograft was implanted on top of the scaffold and the patient's progress was followed for up to 17 months. Successful outcome of the whole procedure was measured as improvement in functionality, clinical appearance, and self-perception of the treated area. This case report underscores the long-term safety and applicability of photosynthetic scaffolds for dermal regeneration and their stable compatibility with other surgical procedures such as autograft application. Moreover, this report also shows the ability to further improve the clinical outcome of this procedure by means of dermal vacuum massage therapy and, more importantly, shows an overall long-term improvement in patient´s quality of life, supporting the translation of photosynthetic therapies into human patients.
Phase 2 Randomized, Placebo-Controlled Clinical Trial of Recombinant Human Growth Hormone (rhGH) During Rehabilitation From Traumatic Brain Injury
Authors: Rosemary Dubiel, Librada Callender, Cynthia Dunklin, Caryn Harper, Monica Bennett, Lisa Kreber, Richard Auchus, Ramon Diaz-Arrastia
Journal: Front Endocrinol (Lausanne) (2018)
Keywords: disability rating scale, functional independence measure, glasgow outcome scale, insulin-like growth factor i, short form 36
MeSH terms: Case Reports

Traumatic brain injury (TBI) is a major cause of death and disability, but there are currently no therapies with proven efficacy for optimizing regeneration of repair during rehabilitation. Using standard stimulation tests, as many as 40-50% of survivors of severe TBI have deficiency of one or more pituitary hormones. Of these, the somatotropic axis is the most commonly affected, with Growth Hormone (GH) deficiency affecting ~20% of persons with severe TBI. Treatment with recombinant human Growth Hormone (rhGH) is generally effective in reversing the effects of acquired GH deficiency, but there is no evidence documenting functional or neurocognitive improvement after GH replacement in TBI patients. As a consequence, screening for GH deficiency and GH replacement when deficiency is found is not routinely performed as part of the rehabilitation of TBI survivors. Given that most of the recovery after TBI occurs within the first 6-12 months after injury and IGF-1 and GH are part of a coordinated restorative neurotrophic system, we hypothesized that patients will optimally benefit from GH therapy during the window of maximal neuroregenerative activity. We performed a Phase IIa, randomized, double-blind, placebo-controlled feasibility trial of recombinant human Growth Hormone (rhGH), starting at discharge from an inpatient rehabilitation unit, with follow up at 6 and 12 months. Our primary hypothesis was that treatment with rhGH in the subacute period would result in improved functional outcomes 6 months after injury. Our secondary hypothesis proposed that treatment with rhGH would increase IGF-1 levels and be well tolerated. Sixty-three subjects were randomized, and 40 completed the trial. At baseline, there was no correlation between IGF-1 levels and peak GH levels after L-arginine stimulation. IGF-1 levels increased after rhGH treatment, but it took longer than 1 month for levels to be higher than for placebo-treated patients. rhGH therapy was well-tolerated. The rhGH group was no different from placebo in the Disability Rating Scale, Glasgow Outcome Scale-Extended, or neuropsychological function. However, a trend toward greater improvement from baseline in Functional Independence Measure (FIM) was noted in the rhGH treated group. Future studies should include longer treatment periods, faster titration of rhGH, and larger sample sizes.
Unilateral, isolated, paediatric lightning-induced cataract: a case report
Authors: G J Rogers, R Grotte
Journal: Case Rep Ophthalmol Med (2011)
MeSH terms: Case Reports

A six-year-old girl presented with gradual loss of vision in the left eye a year after sustaining a lightning strike while in her home. Examination revealed healed burns to her cheek, left arm, and right leg and a dense left cataract. There was no evidence of other ocular sequelae, and her right eye was normal. Cataract surgery and lens implantation were performed on the left eye with good results. Isolated, unilateral, paediatric cataract due to lightning is discussed.
Erythema Multiforme Attributable to Herpes Simplex Virus: Clinical Aspects and Treatment
Authors: Aya Mtiri, Ghada Bouslama, Nour-Sayda Ben Messouad, Iyadh Abidi, Souha Ben Youssef, Badreddine Sriha
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Erythema multiforme is an acute mucocutaneous hypersensitivity reaction with various etiological factors, including herpes simplex virus, medications, autoimmune diseases, and malignancies, but the most common cause is infection by herpes simplex virus. The most characteristic feature is the presence of "target lesions." There are no specific diagnostic tests for EM, and the diagnosis is based on clinical signs and symptoms and biopsy if required. We report a case of recurrent herpes-associated erythema multiforme managed with prophylactic acyclovir for 6 months: a 17-year-old boy had recurrent cutaneous lesions as well as lesions in the oral cavity and lips. Positive serology for herpes simplex virus and histopathological examination confirmed the diagnosis.
Haemophilus parainfluenzae Mural Endocarditis: Case Report and Review of the Literature
Authors: Luca T Giurgea, Tim Lahey
Journal: Case Rep Infect Dis (2016)

Haemophilus parainfluenzae, which uncommonly causes endocarditis, has never been documented to cause mural involvement. A 62-year-old immunocompetent female without predisposing risk factors for endocarditis except for poor dentition presented with fever, emesis, and dysmetria. Echocardiography found a mass attached to the left ventricular wall with finger-like projections. Computed tomography showed evidence of embolic phenomena to the brain, kidneys, spleen, and colon. Cardiac MRI revealed involvement of the chordae tendineae of the anterior papillary muscles. Blood cultures grew Haemophilus parainfluenzae. The patient was treated successfully with ceftriaxone with resolution of symptoms, including neurologic deficits. After eleven days of antibiotics a worsening holosystolic murmur was discovered. Worsening mitral regurgitation on echocardiography was only found three weeks later. Nine weeks after presentation, intraoperative evaluation revealed chord rupture but no residual vegetation and mitral repair was performed. Four weeks after surgery, the patient was back to her baseline. This case illustrates the ability of Haemophilus parainfluenzae to form large mural vegetations with high propensity of embolization in otherwise normal cardiac tissue among patients with dental risk factors. It also underscores the importance of physical examination in establishing a diagnosis of endocarditis and monitoring for progression of disease.