OpenMed/multicare-articles huggingface dataset:
Screening of drugs to treat 8p11 myeloproliferative syndrome using patient-derived induced pluripotent stem cells with fusion gene CEP110-FGFR1
Authors: Shohei Yamamoto, Makoto Otsu, Emiko Matsuzaka, Chieko Konishi, Haruna Takagi, Sachiyo Hanada, Shinji Mochizuki, Hiromitsu Nakauchi, Kohzoh Imai, Kohichiro Tsuji, Yasuhiro Ebihara
Journal: PLoS One (2015)
MeSH terms: Induced Pluripotent Stem Cells / drug effects, Myeloproliferative Disorders / drug therapy, Myeloproliferative Disorders / genetics, Oncogene Proteins, Fusion / genetics, Protein Kinase Inhibitors / therapeutic use, Receptor, Fibroblast Growth Factor, Type 1 / genetics, Translocation, Genetic, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Benzimidazoles / therapeutic use, Cells, Cultured, Drug Evaluation, Preclinical, Hematopoiesis, Humans, Imatinib Mesylate / therapeutic use, Imidazoles / therapeutic use, Induced Pluripotent Stem Cells / metabolism, Induced Pluripotent Stem Cells / pathology, Male, Myeloproliferative Disorders / pathology, Pyridazines / therapeutic use, Quinolones / therapeutic use, Staurosporine / analogs & derivatives, Staurosporine / therapeutic use, 4-amino-5-fluoro-3-(5-(4-methylpiperazin-1-yl)-1H-benzimidazol-2-yl)quinolin-2(1H)-one, Benzimidazoles, Imidazoles, Oncogene Proteins, Fusion, Protein Kinase Inhibitors, Pyridazines, Quinolones, ponatinib, Imatinib Mesylate, Receptor, Fibroblast Growth Factor, Type 1, CEP110-FGFR1 fusion protein, human, Staurosporine, midostaurin

Induced pluripotent stem (iPS) cells provide powerful tools for studying disease mechanisms and developing therapies for diseases. The 8p11 myeloproliferative syndrome (EMS) is an aggressive chronic myeloproliferative disorder (MPD) that is caused by constitutive activation of fibroblast growth factor receptor 1. EMS is rare and, consequently, effective treatment for this disease has not been established. Here, iPS cells were generated from an EMS patient (EMS-iPS cells) to assist the development of effective therapies for EMS. When iPS cells were co-cultured with murine embryonic stromal cells, EMS-iPS cells produced more hematopoietic progenitor and hematopoietic cells, and CD34+ cells derived from EMS-iPS cells exhibited 3.2-7.2-fold more macrophage and erythroid colony forming units (CFUs) than those derived from control iPS cells. These data indicate that EMS-iPS cells have an increased hematopoietic differentiation capacity, which is characteristic of MPDs. To determine whether a tyrosine kinase inhibitor (TKI) could suppress the increased number of CFUs formed by EMS-iPS-induced CD34+ cells, cells were treated with one of four TKIs (CHIR258, PKC 412, ponatinib, and imatinib). CHIR258, PKC 412, and ponatinib reduced the number of CFUs formed by EMS-iPS-induced CD34+ cells in a dose-dependent manner, whereas imatinib did not. Similar effects were observed on primary peripheral blood cells (more than 90% of which were blasts) isolated from the patient. This study provides evidence that the EMS-iPS cell line is a useful tool for the screening of drugs to treat EMS and to investigate the mechanism underlying this disease.
Porcelain Laminate Veneers: A Case Report
Authors: Dhanashree A Minase, Seema Sathe, Anjali Bhoyar, Chinmayee Dahihandekar, Tanvi Jaiswal
Journal: Cureus (2023)
Keywords: anterior restoration, conservative, esthetics in dentistry, laminates, smile designing
MeSH terms: Case Reports

One of the most crucial issues in modern dentistry is restoring a patient's lost dental aesthetic appearance. To do this, new therapeutic tools and techniques have been appearing on the market day by day. For anterior teeth, where aesthetics are extremely essential, the majority of dentists prefer more conservative and aesthetic treatments, such as direct and indirect laminate veneer restorations over full-ceramic crowns. The meteoric emergence of veneers has been one of dentistry's most successful innovations. It is a coating of tooth-coloured material that is put to a tooth to aesthetically restore any intrinsic discoloration or localised or generalised abnormalities. Any restoration work ought to be created using mechanical, biological, and aesthetic criteria. Patients may experience significant aesthetic issues as a result of the colour, form and structural and positional anomalies of their anterior teeth. This is a report depicting a case of porcelain laminate veneers using computer-aided design/computer-aided manufacturing (CAD/CAM).
Acellular dermal matrix for rhinophyma: Is it worth it? A new case report and review of literature
Authors: Matteo Torresetti, Alessandro Scalise, Giovanni Di Benedetto
Journal: Int J Surg Case Rep (2019)
Keywords: acellular dermal matrix, dermal substitute, nasal reconstruction, rhinophyma

Introduction:
nasal reconstruction after rhinophyma surgery could be challenging. In the last decade, some authors proposed the use of dermal substitutes, but only few case reports have been described throughout the Literature.
Presentation of case:
we described a new case of severe and disfiguring rhinophyma treated by total excision and a two-step reconstruction by using acellular dermal matrix and subsequent full-thickness skin graft. Despite an overall improvement of the nasal shape and a good functional recovery were observed after 12 months of follow-up, the aesthetic outcome was not satisfactory and the patient required further surgical revisions.
Discussion:
the use of ADMs in rhinophyma poses some important aspects to be discussed. The resorption rate of the matrix and retraction rate of the skin graft make the final thickness of the neodermis unpredictable. Moreover the location of phymatous lesions and the extent of the surgical removal may strongly impact the final aesthetic outcome, often leading to a multistep procedure and patient dissatisfaction.
Conclusion:
although we believe that ADM represents a simple and reliable alternative for surgical reconstruction after rhinophyma, basing on our clinical experience we suggested some important tips and tricks in order to avoid surgical revisions, and both surgeons and patients should be aware about the potential drawbacks of this technique.
Vitamin D deficiency rickets mimicking pseudohypoparathyroidism
Authors: Leyla Akın, Selim Kurtoğlu, Aysel Yıldız, Mustafa Ali Akın, Mustafa Kendirici
Journal: J Clin Res Pediatr Endocrinol (2010)
Keywords: pseudohypoparathyroidism, vitamin d deficiency rickets, antiepileptic drugs
MeSH terms: Anticonvulsants / adverse effects, Phenobarbital / adverse effects, Pseudohypoparathyroidism / diagnosis, Rickets / diagnosis, Vitamin D / therapeutic use, Vitamin D Deficiency / chemically induced, Case Reports, Calcium / blood, Calcium / therapeutic use, Diagnosis, Differential, Humans, Infant, Male, Phosphates / blood, Seizures / drug therapy, Vitamin D Deficiency / diagnosis, Vitamin D Deficiency / drug therapy, Anticonvulsants, Phosphates, Vitamin D, Calcium, Phenobarbital

Vitamin D deficiency rickets (VDDR) is a disorder biochemically characterized by elevated serum alkaline phosphatase (ALP) activity, normal or decreased serum calcium (Ca) and inorganic phosphate concentrations, secondary hyperparathyroidism and decreased serum 25-hydroxyvitamin D (25(OH)D) levels. In stage 1 VDDR, urinary amino acid and phosphate excretion are normal with minimal or no findings of rickets on radiographs. Pseudohypoparathyroidism (PHP) is an inherited disorder characterized by end-organ resistance to parathormone (PTH). VDDR occasionally resembles PHP type 2 in clinical presentation and biochemical features, creating difficulties in the differential diagnosis of these two entities. Here we report an infant diagnosed with VDDR. In addition to inadequate vitamin D intake, usage of antiepileptic drugs (AED) may have led to the worsening of the vitamin D deficiency. The patient presented with a history of febrile convulsions, for which he received phenobarbital treatment. The initial findings of hypocalcemia, hyperphosphatemia and normal tubular reabsorption of phosphate, mimicking PHP 2, responded well to vitamin D and oral Ca treatment with normalization of serum Ca, phosphorus (P), ALP and PTH levels.
Primary small-cell carcinoma in the lung was found after the cold snare polypectomy of the small metastatic lesion in the cecum: A case report
Authors: Daisuke Suto, Masashi Yoshida, Hidehiko Yamada, Takayuki Akita, Yosuke Osawa, Kiichi Sato, Takaaki Otake, Yoshimasa Nakazato, Nobuhito Arakawa, Hironori Ohdaira, Yutaka Suzuki, Yutaka Kohgo
Journal: DEN Open (2023)
Keywords: cold snare polypectomy, colorectal metastasis, non‐hyperplastic polyps, small-cell lung cancer, thyroid transcription factor‐1
MeSH terms: Case Reports

Metastasis from small-cell lung cancer to the colon is very rare. A 74-year-old man without respiratory or abdominal symptoms underwent a follow-up lower gastrointestinal endoscopy after a polypectomy. He was diagnosed with a 5 mm IIa non-hyperplastic polyp in the cecum and underwent a cold snare polypectomy. The histopathological findings confirmed the diagnosis of small cell carcinoma. The tumor was positive in the deep margins of the submucosal layer. Subsequent systemic examination revealed a mass in the lower lobe of the left lung. Thus, the tumor in the cecum was determined to be a colorectal metastasis from primary small-cell carcinoma of the lung. Metastasis to the colon was diagnosed as small-cell lung cancer based on local positivity for thyroid transcription factor-1 and morphologic and immunochemical features. To our best knowledge, this is the first report of colon metastasis from small cell carcinoma identified by endoscopic treatment.
Hemi-tibia allograft and free microvascularized fibula transplant reconstitute the tibia shaft with side to side healing: 7 year follow up of a 14-year-old boy with adamantinoma
Authors: Alexander P Decilveo, Melissa S Liebling, Andrew L Golden, James C Wittig
Journal: Case Reports Plast Surg Hand Surg (2021)
Keywords: adamantinoma, free microvascularized fibula, hemi-tibia allograft, osteofibrous dysplasia
MeSH terms: Case Reports

Adamantinoma is a malignant tumor that usually presents in adult men between 20 and 50 years. Due to its metastatic potential, differentiating Adamantinoma from Osteofibrous dysplasia is essential as treatment varies greatly. We present a case of limb salvage using a free microvascularized fibula transplant and hemi-tibia allograft.
Management of Fish Bone-Induced Liver Abscess with Foreign Body Left In Situ
Authors: Ryan Burkholder, Hrishikesh Samant
Journal: Case Reports Hepatol (2019)
MeSH terms: Case Reports

Pyogenic liver abscess, having experienced an evolving pathogenesis over the years, still remains a serious problem with significant morbidity. Iatrogenic and ascending biliary infections are the most common known etiologies for hepatic abscess. Here we report an interesting case of an elderly lady admitted with abdominal pain due to a pyogenic liver abscess in the left liver lobe which was attributed to perforation by an ingested fish bone. The authors also reviewed literature for management for this rare case as there are no standard guidelines. Our patient was successfully treated with antibiotics and percutaneous drainage with foreign body left in situ.
Symptomatic bilateral Morgagni diaphragmatic hernias in an elderly patient
Authors: Cathal O'Brien, J Craig Jobling
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

We present a rare case of bilateral Morgagni hernias in an elderly female patient. She initially presented with coffee-ground vomiting and underwent an OGD from which she was given a diagnosis of oesophagitis. On her second presentation (a year later), CT was performed after OGD to evaluate what was thought to be a complex hiatus hernia causing haematemesis, at which point a diagnosis of bilateral Morgagni hernias was made. Surgical management with laparoscopic mesh repair was performed and she made an uneventful recovery.
Acute compartment syndrome of the arm after minor trauma in a patient with optimal range of oral anticoagulant therapy: a case report
Authors: Paolo Titolo, Patrizia Milani, Bernardino Panero, Davide Ciclamini, Giulia Colzani, Stefano Artiaco
Journal: Case Rep Orthop (2014)

Compartment syndrome of the arm is a rare event that can be subsequent to trauma or other pathological and physical conditions. At the arm the thin and elastic fascia may allow accumulation of blood more than in other districts, especially in patients undergoing anticoagulant therapy. We describe a rare case of an acute compartment syndrome of the arm after minor trauma with partial biceps brachii rupture in a patient with warfarin therapy and optimal value of INR. Prompt diagnosis and surgical decompression helped to avoid the occurrence of complications with a satisfying recovery of arm function.
Bilateral congenital upper eyelid eversion: the clinical course and outcome of conservative management
Authors: Waheed Ademola Ibraheem
Journal: Pan Afr Med J (2014)
Keywords: upper eyelid eversion, conservative management
MeSH terms: Ectropion / congenital, Eyelids / abnormalities, Case Reports, Ectropion / pathology, Ectropion / therapy, Female, Humans, Infant, Newborn, Nigeria, Pregnancy

A case of bilateral congenital upper eyelid eversion (CUEE) in an otherwise normal healthy 6 day old neonate of African descent (Nigeria). Pregnancy and delivery history were uneventful. The baby recovered completely 5 days after the commencement of conservative management. This case further gives credence to the usefulness of conservative therapy in the management of CUEE.
Bilateral spontaneous pneumothorax in chronic silicosis: a case report
Authors: Pritinanda Mishra, Sajini Elizabeth Jacob, Debdatta Basu, Manoj Kumar Panigrahi, Vishnukanth Govindaraj
Journal: Case Rep Pathol (2014)

Silicosis is an occupational lung disease caused by inhalation of crystalline silica. People working in occupations like sandblasting, surface drilling, tunneling, silica flour milling, ceramic making, and so forth are predisposed to develop silicosis. Crystalline forms of silica are more fibrogenic than the amorphous forms, highlighting the importance of the physical form in pathogenesis. Lung biopsy is rarely performed for the diagnosis of silicosis as it can easily be detected by occupational history and radiological features. Patients with silicosis can develop complications like tuberculosis, lung cancer, progressive massive fibrosis, cor pulmonale, broncholithiasis, or tracheobronchial compression by lymph nodes. Pleural involvement in silicosis is rare. Spontaneous pneumothorax is a pleural complication that can develop in such patients. Usually in silicosis pneumothorax is unilateral. We hereby report the lung biopsy findings and discuss the mechanism of pneumothorax development in a case of chronic silicosis who, later on died during the course of the disease.
A case report of an adjustable gastric band erosion and migration into the jejunum resulting in biliary obstruction
Authors: Hassan Nasser, Tommy Ivanics, Shravan Leonard-Murali, Jeffrey Genaw
Journal: Int J Surg Case Rep (2019)
Keywords: band erosion, biliary obstruction, case report, gastric band complication, intraluminal migration, laparoscopic adjustable gastric band

Introduction:
Laparoscopic adjustable gastric band is a bariatric operation which has lost popularity due to its high rate of reoperation and complications such as band erosion. Erosion may be partial or complete with intragastric migration of the band. Once in the stomach lumen, the band has the potential to migrate into the small bowel.
Presentation of case:
A 43-year-old male with history of morbid obesity and laparoscopic adjustable gastric band placement presented with abdominal pain secondary to biliary obstruction. Endoscopic retrograde cholangiopancreatography revealed eroded gastric band tubing into the lumen of the stomach and duodenum with resultant distortion of the ampulla. Upon surgical exploration, the band was found to have migrated into the jejunum and was removed through an enterotomy. The patient did well and was discharged home on postoperative day 8.
Discussion:
Once completely eroded into the gastric lumen, a gastric band can migrate into the small bowel with the distance traveled being limited by the length of the connecting tube. The stretched tubing can result in distortion of the ampulla leading to biliary obstruction. Band erosion should be managed with band removal which can be completed using endoscopic, laparoscopic, or open approach.
Conclusion:
Band migration should be suspected in patients with a history of gastric band placement presenting with bowel or biliary obstruction. Its management depends on the location of the band as well as the expertise of the surgical team.
Serologic Presentation of Lamotrigine-Induced Lupus
Authors: Hannah Dempsey, Gabriella Aitcheson, Gretchen Goble, Riley Snook
Journal: Case Rep Neurol Med (2022)
MeSH terms: Case Reports

This paper discusses the presentation of a rare drug side effect, a case of drug-induced lupus presenting with weight loss, weakness, hepatitis, and pancreatitis. A 24-year-old male with a history of major depressive disorder and childhood seizures presented to the ER with symptoms of abdominal pain, significant weight loss, and weakness. Initial workup revealed acute pancreatitis, elevated liver function enzymes (LFTs), and abnormal anti-double-stranded DNA antibody (anti-dsDNA) 1 : 640. He showed no classical clinical signs of lupus including rash, arthritis, or photosensitivity. He had multiple hospitalizations in the previous 6 months for excessive weight loss, malnutrition, weakness, and altered mental status. He had been taking lamotrigine for seizure prevention and mood stabilization while on a selective serotonin reuptake inhibitor (SSRI) and had a decline in health since the lamotrigine dose was increased. Antihistone antibodies were positive suggesting a drug-induced lupus syndrome. We hope to bring awareness to the possible rare complication of lamotrigine-induced lupus.
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
Authors: Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.
Case report: Dysphagia after COVID-19 infection in a stroke patient-Is neurostimulation a potential management?
Authors: Ting-Yu Lin, Peng-Chieh Shen, Shao-An Lee, Shu-Ming Yeh, Ke-Vin Chang, Tyng-Guey Wang
Journal: Front Neurol (2023)
Keywords: covid-19, brain plasticity, dysphagia, neurostimulation, repetitive transcranial magnetic stimulation
MeSH terms: Case Reports

A 90-year-old man with stroke was weaned from tube feeding 4 months after stroke onset. However, he had a coronavirus disease 2019 (COVID-19) infection after 2 months and suffered from drastically worsened oropharyngeal dysphagia that required a reinsertion of the nasogastric tube. A videofluoroscopic swallowing study revealed poor bolus oral transit, significantly delayed swallowing reflex, reduced pharyngeal movements, and insufficient cough response. Repetitive transcranial magnetic stimulation and neuromuscular electrical stimulation were applied, in addition to conventional swallowing training. The feeding tube was removed after 20 treatment sessions. Clinicians should be aware of the risk of dysphagia after COVID-19 infection in patients with underlying neurological diseases. The management of post-COVID-19 dysphagia has not yet been fully established. Repetitive transcranial electrical stimulation combined with neuromuscular electrical stimulation may be used as an auxiliary intervention in specific cases.
Ruptured hydatid cyst with an unusual presentation
Authors: Deepak Puri, Amit Kumar Mandal, Harinder Pal Kaur, Tek Singh Mahant
Journal: Case Rep Surg (2011)
MeSH terms: Case Reports

Ruptured pulmonary hydatid cyst may sometimes cause complications like empyema, bronchopleural fistula, and collapsed lung. These complications may mislead the diagnosis and treatment if prior evidence of cyst has not been documented before rupture. We present a case of a young male who presented with complete collapse of left lung with pyopneumothorax and bronchopleural fistula which was misdiagnosed as pulmonary tuberculosis. He was referred to us from peripheral hospital for pneumonectomy when his condition did not improve after six months of antitubercular chemotherapy and intercostals drainage. On investigation, CT scan revealed significant pleural thickening and massive pneumothorax restricting lung expansion. Decortication of thickened parietal and visceral pleura revealed a ruptured hydatid endocyst, and repair of leaking bronchial openings in floor of probable site of rupture in left upper lobe helped in the complete expansion of the collapsed lung followed by uneventful recovery.
Video-assisted transcervical-transtracheal repair of posterior wall laceration of thoracic trachea: A new approach. Case Report
Authors: Simone Tombelli, Domenico Viggiano, Lavinia Gatteschi, Luca Voltolini, Alessandro Gonfiotti
Journal: Front Surg (2023)
Keywords: case report, cervicotomy, hybrid approach, thoracoscopy (vats), tracheal laceration
MeSH terms: Case Reports

Iatrogenic tracheal lacerations are a rare but potentially fatal event. In selected acute cases, surgery plays a key role. Treatment can be conservative, for lacerations of less than 3 cm; surgical or endoscopic, depending on the size and location of the lesion and fan efficiency. There is no clear indication of the use of any of these approaches and the decision is therefore linked to local expertise. We present an emblematic clinical case of a 79 years old female patient undergoing polytrauma as a result of a road accident, without neurological damage, which required intubation and subsequent tracheotomy due to a significant limitation to ventilation. Imaging has shown the tracheal laceration involving the anterior wall and the pars membranacea up to the origin of the right main bronchus.A percutaneous tracheotomy was permormed without any improvement of the respiratory dynamic. Therefore, the patient underwent a surgical repair of the tracheal laceration with a hybrid mini-cervicotomic/endoscopic approach. This less invasive approach successfully repaired the extensive loss of substance.