OpenMed/multicare-articles huggingface dataset:
Platelet-Rich Fibrin with β-Tricalcium Phosphate-A Noval Approach for Bone Augmentation in Chronic Periapical Lesion: A Case Report
Authors: K B Jayalakshmi, Shipra Agarwal, M P Singh, B T Vishwanath, Akash Krishna, Rohit Agrawal
Journal: Case Rep Dent (2012)

Introduction. This paper describes a case of bone augmentation with combination of Platelet-Rich Fibrin (PRF) and β-TCP for treatment of chronic periapical cyst. The case was followed for 12 months. Methods. Patient presented with chronic periapical lesion in maxillary anterior teeth with history of trauma 8 years back. Radiographically, a periapical cyst was seen in relation to maxillary left central and lateral incisors. Conventional endodontic treatment was started. Since it was not successful, apical surgery was performed. Bone augmentation was done using PRF in combination with β-TCP bone graft to achieve faster healing of the periapical region. Regular followups at 3, 6, 9, and 12 months were done. Results. Healing was uneventful. Follow-up examinations revealed progressive, significant, and predictable clinical and radiographic bone regeneration/healing without any clinical symptoms. Conclusions. Combined use of PRF and β-TCP for bone augmentation in treatment of periapical defects is a potential treatment alternative for faster healing than using these biomaterials alone.
Intercostal hemangioma: Case report of a rare chest wall tumor in childhood
Authors: Hatem Elbawab, Farouk Alreshaid, Tariq Hashem, Asayil Alnasser, Raja Husain, Yasser Aljehani
Journal: Int J Surg Case Rep (2019)
Keywords: chest wall reconstruction, chest wall tumor, intercostal hemangioma

Introduction:
Intercostal hemangioma is an extremely rare disease. It is difficult to distinguish intercostal hemangioma from other chest wall tumors. The difficulty in preoperative diagnosis may result in incomplete surgical resection and hence a high rate of recurrence.
Case presentation:
A 14-year-old boy who presented with asymptomatic right lateral chest wall mass with no history of trauma. Different radiological modalities were employed for diagnosis including computed tomography (CT) showed a soft tissue mass 6.5×4×5.6cm in size abutting 5th and 6th ribs. Magnetic resonance imaging (MRI) revealed iso-intense signal in T1 and hyperintense signal in T2, that is higher than that of adjacent muscles in the inferolateral right chest wall which was compatible with intercostal hemangioma. The patient underwent surgery for excision of the mass. Through right posterolateral thoracotomy, there was a well-demarcated mass abutting 5th, and 6th ribs filling the right 5th interspaces. Histopathological examination confirmed the diagnosis of intercostal hemangioma.
Discussion:
Chest wall hemangiomas are uncommon and mostly arise outside the rib cage. Hemangiomas rarely occur in the intercostal space, and most of these originate from intercostal muscles (Agarwal et al., 2006). Watson and McCarthy postulated two theories for the etiology of hemangiomas. The more widely supported theory claims that hemangiomas are of congenital origin. The other theory proposes a traumatic origin of hemangiomas.
Conclusion:
Complete surgical resection should not be compromised by the resultant chest wall defect to prevent recurrence.
Left Functional Pneumonectomy Caused by a Very Rare Giant Intrathoracic Cystic Lesion in a Patient with Gorham-Stout Syndrome: Case Report and Review of the Literature
Authors: Nikolaos Tasis, Ioannis Tsouknidas, Argyrios Ioannidis, Konstantinos Nassiopoulos, Dimitrios Filippou
Journal: Case Rep Pulmonol (2018)
MeSH terms: Case Reports

Gorham-Stout syndrome is an uncommon entity, with few cases reported in bibliography. It consists of osteolytic manifestations affecting various bones and replacing them with lymphangiomatous tissue. With pathophysiology unknown, Gorham-Stout disease affects also cardiorespiratory system usually causing lytic lesions to the bones of the thoracic cage or directly invading the thoracic duct. This is a case report of a unique respiratory manifestation of the disease and a review of its cardiorespiratory complications.
Radiation-induced angiosarcoma of the brain
Authors: Sodai Hoshiai, Tomohiko Masumoto, Masahide Matsuda, Narushi Sugii, Noriaki Sakamoto, Manabu Minami
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

Primary angiosarcoma of the central nervous systemis unusual.We encountered a case of radiation-induced angiosarcoma of the brain. A 65-year-old male was referred to our hospital with drowsiness for the last 6 months. He had undergone radiation therapy for pituitary adenoma 43 years ago. An MRI revealed a right temporal lobe tumour that consisted of a well-demarcated haemorrhagic lesion and an avid contrast enhancement, with significant vasogenic oedema. Surgical resection was performed and a post-operative pathological diagnosis of an angiosarcoma was made. A Thorotrast-associated angiosarcoma has been, hitherto, the only reported case of radiation-induced angiosarcoma of the brain. We present an extremely rare case of primary angiosarcoma of the brain, occurring after external beam radiotherapy.
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability
Authors: Nadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir, Naeema Al-Yarubi, Patrick Scott
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

The autosomal recessive cerebellar ataxias (ARCA) affect both the central and the peripheral nervous systems. They are also characterized by a relatively high level of genetic heterogeneity with well over 40 genes already implicated. The present study aimed to identify the gene mutation responsible for a complex phenotype comprising cerebellar ataxia and intellectual disability segregating in an Omani consanguineous family. Homozygosity-guided exome data analysis identified a novel frameshift mutation (c.2319_2322del) within the sorting nexin 14 gene (SNX14), which predicts complete absence of the SNX14 encoded protein. Segregation within the family of the sequence variation is consistent with its pathogenic role. Importantly, loss-of-function mutations in SNX14 have recently been described as a cause of a clinically distinguishable recessive syndrome consisting of cerebellar atrophy, ataxia, coarsened facial features, and intellectual disability. This study expands the genetic diversity of ataxia genes in the Omani population and have important implications for the clinical and molecular diagnosis of this condition in affected individuals.
Coexistence of Primary and Secondary Delusional Parasitosis
Authors: Kourtne Roberts, Aparna Das, Michael Fuller, Christopher Thomas
Journal: Case Rep Psychiatry (2020)
MeSH terms: Case Reports

Objective:
Delusional parasitosis (DP) is a difficult-to-treat condition. It is prevalent in all cultures, societies, and countries. Previous case reports of DP have been published; however, the patient presented in this report is unique because of the co-occurrence of both primary and secondary types of DP. We aim to explore the two subtypes of DP.
Conclusions:
We discuss DP from a nosological perspective and also highlight the various theories at play in the pathogenesis of primary and secondary DP. The different subtypes of DP should be taken into consideration as they also have a bearing on the management.
Postoperative Bowel Perforation due to Heterotopic Ossification (Myositis Ossificans Traumatica): A Case Report and Review of the Literature
Authors: Victoria Valinluck Lao, Oliver B Lao, Edgar Figueredo
Journal: Case Rep Gastrointest Med (2011)
MeSH terms: Case Reports

Heterotopic ossification (HO) is the ectopic development of normal bone within soft tissue that can occur after traumatic injury. It is uncommon and may be missed or misdiagnosed, which can lead to complications. We report the case of an 84-year-old male with a previous history of a laparotomy who underwent resection of an intra-abdominal tumor through a midline incision. On postoperative day six, the patient was taken to the operating room, as succus was draining from the incision. Upon re-exploration, sharp bone-like material was found in the wound directly adjacent to an enterotomy. Pathology confirmed mature lamellar bone and the diagnosis of HO. This is the first report of postoperative intestinal perforation secondary to HO in a midline wound. We report this case to encourage accurate reporting of HO and its morbidity and complications for the benefit of appropriate surgical planning and epidemiologic tracking of outcomes.
Full-Thickness Macular Hole Due to Choroidal Neovascularization in the Setting of Pathologic Myopia
Authors: Austin Pereira, Brian G Ballios, David Sarraf, Peng Yan
Journal: J Vitreoretin Dis (2022)
Keywords: cnv, anti-vegf, dehiscence, macular hole, myopia, neovascularization
MeSH terms: Case Reports

Purpose: To present a case of myopic choroidal neovascularization (CNV) leading to a full-thickness macular hole (MH) in a patient with macular schisis. Methods: A single case was evaluated. Results: A 65-year-old woman presented with myopic staphyloma and foveoschisis in both eyes. One month after the baseline presentation for myopic macular schisis, the patient presented with a paracentral scotoma in the left eye. Examination showed a submacular hemorrhage in the left eye. Optical coherence tomography of the left eye showed subretinal fluid and subretinal hyperreflective material in the fovea, suggestive of exudative myopia, and a small full-thickness MH (diameter 86 µm). After anti-vascular endothelial growth factor injections, the CNV showed interval improvement; however, a larger full-thickness MH (diameter 287 µm) developed in the left eye. Conclusions: A full-thickness MH developed secondary to CNV, leading to foveal dehiscence in an eye with baseline macular schisis.
Diagnosis and Treatment of Synchronous Lymphoma and Digestive System Carcinoma: Report of Four Cases and Literature Review
Authors: Jingshu Meng, Huaxiong Pan, Xiaoqian Li, Tao Liu, Zijian Liu, Qiuhui Li, Yin Xiao, Xinxiu Liu, Gang Wu, Fang Zhu, Liling Zhang
Journal: Front Oncol (2019)
Keywords: chemotherapy, diagnosis, digestive system carcinoma, lymphoma, treatment
MeSH terms: Case Reports

Objective: To investigate the diagnosis and treatment of synchronous lymphoma and digestive system carcinoma and review literature. Materials and Methods: We retrospectively analyzed the clinical data of four cases of synchronous lymphoma and digestive system carcinoma treated at our hospital. The clinical manifestations, pathological results, and treatment strategies were investigated. Results: One of the four cases was diagnosed as follicular lymphoma with gastric adenocarcinoma, and the other three were diagnosed as diffuse large B-cell lymphoma with digestive system adenocarcinoma in the liver, sigmoid colon, and duodenum papilla, respectively. The second carcinoma was initially discovered incidentally because of the stage examination of lymphoma or the patient's poor response to treatment. The diagnosis of synchronous lymphoma and digestive system carcinoma depended mainly on the pathological examination. Conclusions: The accurate diagnosis of synchronous malignancies is challenging because they rarely occur. We suggest a scrupulous re-biopsy of extranodal lesions in patients with lymphoma to improve the diagnostic accuracy of related double primary tumors. Age, performance status, symptoms, pathological types, and tumor staging should be considered when formulating a treatment strategy. The systemic treatment regimens should include drugs targeting the synchronous tumors in question, and these remain to be explored further.
Could Artificial Intelligence/Machine Learning and Inclusion of Diet-Gut Microbiome Interactions Improve Disease Risk Prediction? Case Study: Coronary Artery Disease
Authors: Baiba Vilne, Juris Ķibilds, Inese Siksna, Ilva Lazda, Olga Valciņa, Angelika Krūmiņa
Journal: Front Microbiol (2022)
Keywords: artificial intelligence, coronary artery disease, diet, gut microbiome, machine learning, personalized nutrition, risk prediction
MeSH terms: Review

Coronary artery disease (CAD) is the most common cardiovascular disease (CVD) and the main leading cause of morbidity and mortality worldwide, posing a huge socio-economic burden to the society and health systems. Therefore, timely and precise identification of people at high risk of CAD is urgently required. Most current CAD risk prediction approaches are based on a small number of traditional risk factors (age, sex, diabetes, LDL and HDL cholesterol, smoking, systolic blood pressure) and are incompletely predictive across all patient groups, as CAD is a multi-factorial disease with complex etiology, considered to be driven by both genetic, as well as numerous environmental/lifestyle factors. Diet is one of the modifiable factors for improving lifestyle and disease prevention. However, the current rise in obesity, type 2 diabetes (T2D) and CVD/CAD indicates that the "one-size-fits-all" approach may not be efficient, due to significant variation in inter-individual responses. Recently, the gut microbiome has emerged as a potential and previously under-explored contributor to these variations. Hence, efficient integration of dietary and gut microbiome information alongside with genetic variations and clinical data holds a great promise to improve CAD risk prediction. Nevertheless, the highly complex nature of meals combined with the huge inter-individual variability of the gut microbiome poses several Big Data analytics challenges in modeling diet-gut microbiota interactions and integrating these within CAD risk prediction approaches for the development of personalized decision support systems (DSS). In this regard, the recent re-emergence of Artificial Intelligence (AI) / Machine Learning (ML) is opening intriguing perspectives, as these approaches are able to capture large and complex matrices of data, incorporating their interactions and identifying both linear and non-linear relationships. In this Mini-Review, we consider (1) the most used AI/ML approaches and their different use cases for CAD risk prediction (2) modeling of the content, choice and impact of dietary factors on CAD risk; (3) classification of individuals by their gut microbiome composition into CAD cases vs. controls and (4) modeling of the diet-gut microbiome interactions and their impact on CAD risk. Finally, we provide an outlook for putting it all together for improved CAD risk predictions.
Brucella Periprosthetic Joint Infection Involving Bilateral Knees with Negative Synovial Fluid Alpha-Defensin
Authors: Abdullah Balkhair, Sultan Al Maskari, Shadin Ibrahim, Ibrahim Al Busaidi, Mohammed Al Amin, Hashim Ba Taher
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Periprosthetic joint infection (PJI) due to Brucella is uncommon despite relatively high endemicity of human brucellosis and its osteoarticular predilection. We report a case of a 57-year-old woman with bacteraemic brucellosis complicated by Brucella periprosthetic infection of both knee joints occurring a decade after bilateral knee arthroplasty and associated with a negative synovial fluid alpha-defensin test. The patient was successfully treated with anti-Brucella therapy alone and without surgical revision, resulting in clinical and microbiological cure. We propose that Brucella should be considered as a possible cause of prosthetic joint infection in the appropriate clinical and epidemiological settings. A negative synovial fluid alpha-defensin (Synovasure AD test) should not be used as a rule-out test for Brucella PJI. Brucella PJI without radiological loosening may be treated conservatively and solely with antimicrobial therapy.
Getting Out of a PCCL: Percutaneous Cholecystolithotomy as a Salvage Treatment Option for Gallstone Removal in Patients Deemed Unfit for Standard Surgical Approaches
Authors: Adam C Calaway, Michael S Borofsky, Casey A Dauw, James E Lingeman
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Definitive management of acute cholecystitis or symptomatic cholelithiasis in exceedingly high-risk patients remains a clinical dilemma. In certain cases, treatment through a percutaneous approach following standard techniques and principles similar to those of percutaneous nephrolithotomy may be considered. However, one potential challenge, particularly among a high-risk population, is the possible necessity to stay on obligate anticoagulation for pre-existing medical reasons. To date, there have been no prior reports documenting the role of this procedure in patients on systemic anticoagulation, particularly clopidogrel. Here we report a case of a percutaneous cholecystolithotomy performed on an elderly patient unable to stop dual antiplatelet therapy (aspirin and clopidogrel) secondary to recent drug eluting stent placement for myocardial infarction.
Zinc Acetate Dihydrate Tablet-Associated Gastritis Occurring in a Post-Hematopoietic Stem Cell Transplant Recipient
Authors: Masaya Iwamuro, Takehiro Tanaka, Akifumi Matsumura, Seiji Kawano, Yoshiro Kawahara, Hiroyuki Okada
Journal: Case Rep Gastrointest Med (2022)
MeSH terms: Case Reports

A 65-year-old Japanese woman underwent umbilical cord blood transplantation for acute myeloid leukemia. Zinc acetate dihydrate tablets were administered for hypozincemia after transplantation, and vomiting and appetite loss occurred soon thereafter. Esophagogastroduodenoscopy revealed mucosal redness, erosion, white coat adhesion, and ulcers. Although graft-versus-host disease, intestinal transplant-associated microangiopathy, and cytomegalovirus infection were considered as possible causes, we diagnosed the patient with zinc acetate dihydrate tablet-associated gastric mucosal alterations based on the endoscopic features. This case reinforces the notion that medication-associated gastric lesions should be suspected in patients taking zinc acetate dihydrate tablets.
Abscopal responses in patients with metastatic melanoma involving skin and subcutaneous tissues treated with intralesional IL2 plus BCG
Authors: Dejan Vidovic, Lucy Kathryn Helyer, Sylvia Pasternak, Carman Anthony Giacomantonio
Journal: Front Oncol (2023)
Keywords: bcg, il2, in-transit melanoma, interleukin 2, intralesional, intratumoral, melanoma

Cutaneous melanoma is relatively common with increasing incidence and significant mortality. While the mainstay of therapy is surgical, patients with stage III and IV disease fare poorer than those with early-stage disease and often benefit from adjuvant therapies. While systemic immunotherapy has changed the landscape of melanoma treatment, for some patients systemic toxicities related to these treatments prohibit successful administration or completion of therapy. Moreover, it is becoming increasingly evident that nodal, regional, and in-transit disease appears to be resistant to systemic immunotherapy relative to responses observed in distant metastatic disease sites. In this scenario, intralesional immunotherapies may offer benefit. In this case series, we describe the use of intralesional IL-2 and BCG at our institution in ten patients with in-transit plus or minus distant cutaneous metastatic melanoma over the last twelve years. All patients received intralesional IL2 and BCG. Both treatments were very well tolerated with only grade 1/2 adverse events. In our cohort, complete clinical response was 60% (6/10), progressive disease in 20% (2/10), and no response in 20% (2/10) of patients. The overall response rate (ORR) was 70%. The median overall survival was 35.5 months and mean overall survival 43 months in this cohort. Herein we further highlight the clinical, histopathological, and radiological course of two complete responders, showing evidence of an abscopal effect with resolution of distant untreated metastasis. Together, this limited data supports the safe and effective use of intralesional IL2 and BCG for the treatment of metastatic or in-transit melanoma in this challenging patient cohort. To our knowledge, this is the first formal study to report on this combination therapy for the treatment of melanoma.
Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia
Authors: D Hettiarachchi, Hetalkumar Panchal, B A P S Pathirana, P D Rathnayaka, A Padeniya, P S Lai, V H W Dissanayake
Journal: Case Rep Genet (2020)
MeSH terms: Case Reports

Introduction:
Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000-100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginning from early childhood. The neurological deficit associated with this condition affects one's balance, coordination, walking, and speech and can be accompanied by chorea, myoclonus, and neuropathy. They may also have ocular telangiectasias and high levels of blood alpha-fetoprotein (AFP). The ataxia telangiectasia mutated gene (ATM) is associated with this condition and codes for the ATM protein which is a phosphatidylinositol 3-kinase. This gene occupies 150 kb on chromosome 11q22-23 and contains 66 exons encoding a 13 kb transcript. ATM is a relatively large protein with a molecular weight of 350 kDa and 3,056 amino acids.
Methods:
Four patients of Sri Lankan origin presenting with features suggestive of ataxia telangiectasia were referred to our genetics center for specialized genetic counseling and testing. Whole-exome sequencing followed by Sanger sequencing was used to confirm the candidate variants. Protein modeling and genotype to phenotype correlation was performed in the identified variants.
Results:
We observed 6 novel ATM gene variants in four patients with ataxia telangiectasia. The identified variants are as follows: homozygous c.7397C > A (p.Ala2466Glu) and c.510_511delGT (p.Tyr171fs) and compound heterozygous c.5347_5350delGAAA (p.Glu1783fs), c.8137A > T (p.Arg2713 ∗ ) and c.1163A > C (p.Lys388Thr), and c.5227A > C (p.Thr1743Pro). Variant analysis was followed by modeling of the native and altered protein structures.
Conclusion:
We report novel ATM gene variants that have implications on the molecular diagnosis of ataxia telangiectasia.
Systemic Air Embolism Associated with Pleural Pigtail Chest Tube Insertion
Authors: Emad Alkhankan, Ahmad Nusair, Rida Mazagri, Mohammed Al-Ourani
Journal: Case Rep Pulmonol (2016)

Pleural pigtail catheter placement is associated with many complications including pneumothorax, hemorrhage, and chest pain. Air embolism is a known but rare complication of pleural pigtail catheter insertion and has a high risk of occurrence with positive pressure ventilation. In this case report, we present a 50-year-old male with bilateral pneumonia who developed a pneumothorax while on mechanical ventilation with continuous positive airway pressure mode. During the placement of the pleural pigtail catheter to correct the pneumothorax, the patient developed a sudden left sided body weakness and became unresponsive. An air embolism was identified in the right main cerebral artery, which was fatal.
Heralding Extramedullary Blast Crisis: Horner's Syndrome with Brachial Plexopathy in a Patient with Chronic Myelogenous Leukemia
Authors: Sajish Jacob, Sadanand I Patil
Journal: Case Rep Med (2016)
MeSH terms: Case Reports

Chronic myelogenous leukemia (CML) blast crisis is an ominous clinical event that is challenging to treat. This can develop at extramedullary sites rarely and is defined as the infiltration of blasts outside the bone marrow irrespective of proliferation of blasts within the bone marrow. We aim to report an unusual clinical presentation characterized by Horner's syndrome, ipsilateral arm weakness, and cervical lymphadenopathy as the first signs of extramedullary blast crisis in a CML patient. To the best of our knowledge, the extramedullary locations involving the brachial plexus along with cervicothoracic paraspinal chloroma have not been previously reported in the literature.