OpenMed/multicare-articles huggingface dataset:
Lemierre's Syndrome Due to Methicillin-Resistant Staphylococcus aureus
Authors: Rolando A Zamora Gonzalez, Juan C Sarria, Nicole A Christians, Michelle Baliss
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: lemierre’s syndrome, facial vein thrombosis, methicillin-resistant staphylococcus aureus, septic emboli
MeSH terms: Bacteremia / microbiology, Jugular Veins, Lemierre Syndrome / diagnosis, Lemierre Syndrome / microbiology, Methicillin-Resistant Staphylococcus aureus, Case Reports, Adult, Anti-Bacterial Agents / therapeutic use, Bacteremia / diagnosis, Bacteremia / drug therapy, Humans, Lemierre Syndrome / drug therapy, Male, Radiography, Thoracic, Tomography, X-Ray Computed, Anti-Bacterial Agents

Lemierre's syndrome is an uncommon and potentially fatal complication of oropharyngeal and facial infections. It involves an associated septic thrombophlebitis, bacteremia, and septic emboli. Traditionally, compromise of the internal jugular vein has been described in conjunction with an infection caused by anaerobes, especially, Fusobacterium necrophorum. In recent years, however, variant forms have been appearing, including other vessel compromise and other etiologic agents. We present the case of Lemierre's syndrome in a 31-year-old male with facial vein thrombosis, septic emboli to the lungs, and bacteremia caused by methicillin-resistant Staphylococcus aureus. We hope that this case will raise awareness about variant presentations and promote a timely diagnosis and appropriate treatment of this potentially fatal infection.
Imaging features of foreign body granuloma in the lower extremities mimicking a soft tissue neoplasm
Authors: Akira Ando, Masahito Hatori, Yoshihiro Hagiwara, Shuji Isefuku, Eiji Itoi
Journal: Ups J Med Sci (2009)
MeSH terms: Granuloma / diagnosis, Soft Tissue Neoplasms / diagnosis, Case Reports, Child, Child, Preschool, Diagnosis, Differential, Female, Granuloma / diagnostic imaging, Humans, Magnetic Resonance Imaging, Middle Aged, Soft Tissue Neoplasms / diagnostic imaging, Tomography, X-Ray Computed

Foreign body granuloma is a tissue reaction for retained foreign bodies after skin-penetrating trauma. Detection of retained foreign bodies can be extremely difficult when the patients present with non-specific symptoms such as pain and/or swelling without recognizing a previous trauma. We report three patients of foreign body granulomas in the lower extremities with emphasis placed on their unique clinical and radiological features. The involved sites were the foot, posterior thigh, and posterior lower leg, with wooden splinters in two patients and a fragment of tile in one. Plain radiographs could not reveal the existence of foreign bodies. Magnetic resonance imaging (MRI) showed foreign bodies as low intensities on both T1- and T2-weighted images in two patients, and the surrounding reactive lesion as low to iso intensities on T1- and high intensities on T2-weighted images in all the patients. The peripheral areas of the lesion were strongly enhanced after gadolinium injection. Ultrasound sonography could clearly visualize a foreign body as an echogenic area with posterior acoustic shadowing in one patient. The surrounding ring-like reactive lesion is easily mistaken for a soft tissue neoplasm when foreign bodies are not identified. The key to arriving at the correct diagnosis is to clarify the previous trauma and to identify foreign bodies with low signal intensities on both T1- and T2-weighted images and/or the characteristic ring-like enhancement on MRI. It is also necessary to rule out a foreign body granuloma whenever we see patients with a soft tissue tumor in the extremities, irrespective of their previous trauma history.
The unexpected evolution of myocardial injury while infected with the coronavirus: A COVID-19 case report
Authors: J T Doran
Journal: S Afr J Sports Med (2022)
Keywords: electrocardiography, gastritis, long-haul covid, pericarditis
MeSH terms: Case Reports

Background:
A novel virus breakout in December 2019, with diverse clinical manifestations, initially identified as infecting the respiratory system, has spread rapidly around the world, with adverse effects which have caused acute myocardial injury and chronic damage to the cardiovascular system in some individuals.
Aim:
To present a clinical case with the manifestation of COVID-19 suspected to be either a mild case of either myocarditis or pericarditis. This case highlights a relatively atypical presentation of COVID-19 and the value of a coordinated approach to the unexpected sequences of patient recovery patterns that may require further specialist referral and intervention.
Findings:
A ribonucleic acid (RNA) viral infection was confirmed by a polymerase chain reaction with reverse transcription (RT-PCR) and the patient was diagnosed with coronavirus disease 2019 (COVID-19). The presenting symptoms failed to resolve and the patient was admitted to the accident and emergency (A&E) department. Upon the second visit to the A&E department at 27 days postinfection, an electrocardiograph (ECG) was conducted revealing T wave inversion.
Implications:
A coordinated approach is needed to combat the infection, develop cardiac-protective strategies and direct supportive measures.
Surgical treatment of osteopetrosis-related femoral fractures: two case reports and literature review
Authors: Ahmet Aslan, Yakup Barbaros Baykal, Emin Uysal, Tolga Atay, Vecihi Kirdemir, Metin Lütfi Baydar, Nevres Hürriyet Aydoğan
Journal: Case Rep Orthop (2014)

Osteopetrosis is a rare hereditary disease which is characterized by increased bone density. Bone resorption is insufficient or fails due to the osteoclast defect in osteopetrosis. Half of the patients are asymptomatic and diagnosed incidentally or based on the presence of fracture. Adult onset osteopetrosis usually presents with hip and proximal femoral fractures. Internal fixation can be performed; however, technical challenges may be experienced due to increased bone density. As in other fractures, nonunion or varus malunion of these fractures may occur. Although rare, osteopetrosis may complicate treatment of fractures in such patients. In this study, we aimed to present two new cases of ADO type II with an osteopetrotic femoral fracture along with the clinical and radiological findings in the light of a comprehensive literature review. Orthopaedics surgeons should be aware of intraoperative technical difficulties and possible postoperative complications during the follow-up period. Investigation would be beneficial for the diagnosis of osteopetrosis such the patient with fractures who has minor trauma history and increased bone density in radiography.
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease
Authors: Quansheng Xi, Lin Li, Elias I Traboulsi, Qing Kenneth Wang
Journal: Mol Vis (2009)
MeSH terms: ATP-Binding Cassette Transporters / genetics, Point Mutation, Retinitis Pigmentosa / genetics, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Adolescent, Adult, Aged, Child, Child, Preschool, DNA Mutational Analysis, Electroretinography, Female, Fluorescein Angiography, Genes, Recessive, Genome-Wide Association Study, Heterozygote, Humans, Male, Middle Aged, Nystagmus, Pathologic, Pedigree, Photoreceptor Cells, Vertebrate / pathology, Retinitis Pigmentosa / diagnosis, Retinitis Pigmentosa / pathology, Retinitis Pigmentosa / physiopathology, Vision, Low, ABCA4 protein, human, ATP-Binding Cassette Transporters

Purpose:
To identify the gene causing a severe form of progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease and to characterize clinical features in a large American family.
Methods:
We characterized an American family who had an unusual retinal dystrophy with clinical features of Stargardt disease and severe progressive cone-rod dystrophy. Family members underwent complete ocular examinations with evaluation of visual acuity, visual fields, fundus examination, fluorescein angiography, and electroretinography. Genome-wide linkage analysis of the family was performed using 408 microsatellite markers spanning the entire human genome. Direct DNA sequence analysis was used for mutational analysis of the ABCA4 gene in all exons and exon-intron boundary regions and for testing cosegregation of the mutations with the disease in the family. DNA sequence analysis was used to determine the presence of the mutations in 200 unrelated controls.
Results:
The proband presented with a clinical phenotype that was initially compatible with Stargardt disease, only to progress to a severe cone-rod dystrophy over the course of a few years. The disease-causing gene in the family was linked to the ABCA4 locus on chromosomal 1p22. One novel mutation, c.655A>T, was identified in exon 6 and another novel splicing mutation, c.5312+3A>T, was identified in intron 37 of ABCA4. The mutations were not present in 200 controls. The two affected sisters in this pedigree were compound heterozygotes for the mutations. Unaffected family members either did not carry either or had only one of the two mutations.
Conclusions:
We have identified two novel ABCA4 mutations, c.655A>T and c.5312+3A>T. When present as a compound heterozygous state, the mutations cause a phenotype of retinal dystrophy that initially manifests as Stargardt disease and slowly progresses to a severe cone-rod dystrophy. These results expand the wide range of clinical manifestations of ABCA4 mutations.
Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease
Authors: Jeffrey Rhyne, Myrna M Mantaring, David F Gardner, Michael Miller
Journal: BMC Med Genet (2009)
MeSH terms: ATP-Binding Cassette Transporters / genetics, Cholesterol, HDL / blood, Coronary Disease / genetics, Hypoalphalipoproteinemias / genetics, Mutation, Case Reports, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, Non-P.H.S., ATP Binding Cassette Transporter 1, Adult, Alternative Splicing, Cholesterol, HDL / genetics, Coronary Disease / blood, Coronary Disease / complications, DNA Mutational Analysis, DNA Primers, Female, Humans, Hypoalphalipoproteinemias / blood, Hypoalphalipoproteinemias / complications, Male, Pedigree, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, ABCA1 protein, human, ATP Binding Cassette Transporter 1, ATP-Binding Cassette Transporters, Cholesterol, HDL, DNA Primers

Background:
Mutations at splice junctions causing exon skipping are uncommon compared to exonic mutations, and two intronic mutations causing an aberrant phenotype have rarely been reported. Despite the high number of functional ABCA1 mutations reported to date, splice variants have been reported infrequently. We screened DNA from a 41 year-old male with low HDL-C (12 mg/dL [0.31 mmol/L]) and a family history of premature coronary heart disease (CHD) using polymerase chain reaction single-strand conformation polymorphism (SSCP) analysis.
Methods:
Family members with low levels of HDL-C (n = 6) were screened by SSCP for mutations in ABCA1. Samples with altered SSCP patterns were sequenced directly using either an ABI 3700 or ABI3730Xl DNA Analyzer. To screen for splicing defects, cDNA was isolated from the proband's RNA and was sequenced as above. A series of minigenes were constructed to determine the contribution of normal and defective alleles.
Results:
Two novel splice variants in ABCA1 were identified. The first mutation was a single base pair change (T->C) in IVS 7, 6 bps downstream from the exon7/intron7 junction. Amplification of cDNA and allelic subcloning identified skipping of Exon 7 that results in the elimination of 59 amino acids from the first extracellular loop of the ABCA1 protein. The second mutation was a single base pair change (G->C) at IVS 31 -1, at the intron/exon junction of exon 32. This mutation causes skipping of exon 32, resulting in 8 novel amino acids followed by a stop codon and a predicted protein size of 1496 AA, compared to normal (2261 AA). Bioinformatic studies predicted an impact on splicing as confirmed by in vitro assays of constitutive splicing.
Conclusion:
In addition to carnitine-acylcarnitine translocase (CACT) deficiency and Hermansky-Pudlak syndrome type 3, this represents only the third reported case in which 2 different splice mutations has resulted in an aberrant clinical phenotype.
Mediastinal mixed germ cell tumor: A case report and literature review
Authors: Xianwen Hu, Dandan Li, Jinhua Xia, Pan Wang, Jiong Cai
Journal: Open Med (Wars) (2021)
Keywords: case report, computed tomography, mediastinal, mixed germ cell tumor
MeSH terms: Case Reports

Mixed germ cell tumor (MGCT) mainly occurs in young women's ovaries and men's testicles and rarely occurs outside the gonad. Fewer than 10 cases of mediastinal MGCT are available in PubMed, Embase, and other databases in English, while mediastinal MGCT with three pathological components, such as yolk sac tumor, immature teratoma, and embryonal carcinoma, has not been reported previously. A 12-year-old male sought medical attention for chest discomfort and underwent a computed tomography (CT) scan. A large soft tissue mass occupying most of the left thoracic cavity and mediastinum was detected. A CT-guided biopsy was performed, and an MGCT was diagnosed with pathological components, including yolk sac tumor, immature teratoma, and a small amount of embryonal carcinoma. Due to the large size of the tumor, the patient was treated with an EP regimen (etoposide + cisplatin) and paclitaxel + ifosfamide + cisplatin interstitial chemotherapy. The patient was followed up for 6 months and was alive with the disease. To the best of our knowledge, this is the 10th patient with MGCT in the mediastinum. The incidence of mediastinal MGCT is low, but it should still be considered one of the differential diagnoses of isolated pleural fibroma and neurogenic tumors.
Case report: mRNA-1273 COVID-19 vaccine-associated myopericarditis: Successful treatment and re-exposure with colchicine
Authors: Luca Valore, Till Junker, Eva Heilmann, Christine S Zuern, Matthias Streif, Beatrice Drexler, Christian Arranto, Jörg P Halter, Christoph T Berger
Journal: Front Cardiovasc Med (2023)
Keywords: covid-19, allogeneic stem cells transplantation, colchicine, mrna vaccine, mrna-1273, myocarditis
MeSH terms: Case Reports

Introduction:
Vaccine-induced myocarditis is a rare complication of messenger RNA (mRNA) COVID-19 vaccines.
Case presentation:
We report a case of acute myopericarditis in a recipient of allogeneic hematopoietic cells following the first dose of the mRNA-1273 vaccine and the successful administration of a second and third dose while on prophylactic treatment with colchicine to successfully complete the vaccination.
Conclusion:
Treatment and prevention of mRNA-vaccine-induced myopericarditis represent a clinical challenge. The use of colchicine is feasible and safe to potentially reduce the risk of this rare but severe complication and allows re-exposure to an mRNA vaccine.
Case report: Successful treatment of a rare case of combined parathyroid adenoma, cervical bronchogenic cyst, and tracheal diverticulum with gasless endoscopic resection of neck masses via an axillary approach: A case report and literature review
Authors: Dong-Ning Lu, Wan-Chen Zhang, Chuan-Ming Zheng, Ming-Hua Ge, Jia-Jie Xu
Journal: Front Oncol (2022)
Keywords: axillary approach, cervical bronchogenic cyst, minimally invasive surgery, parathyroid adenoma, tracheal diverticulum
MeSH terms: Case Reports

Parathyroid adenoma (PA), one of the most common causes of hyperparathyroidism, generally involves a single parathyroid gland and is manifested as hyperparathyroidism. Bronchogenic cysts are rare congenital cystic lesions caused by a development malformation in bronchi during the embryonic period, which mostly occur in the lung and mediastinum, with an extremely low morbidity rate in the neck. A 27-year-old young female was found to suffer from hyperparathyroidism on routine physical examination, and further examination suggested a cystic lesion in the right inferior parathyroid area combined with a tracheal diverticulum. Therefore, she was initially diagnosed with cystic hyperplasia of the parathyroid glands complicated by a tracheal diverticulum. Gasless endoscopic resection of neck masses via an axillary approach was performed because of the high requirements for the surgical cosmetic effect of the patient. During the surgery, we observed that the preoperatively diagnosed cystic lesion was a combination of two masses, which were successfully resected under endoscopy. Based on the postoperative pathology and clinical features, the patient was eventually diagnosed with a rare case of triple diseases including PA, cervical bronchial cyst, and tracheal diverticulum. Now, the patient recovered well as per the follow-up with no signs of recurrence and was extremely satisfied with the cosmetic effect of the surgery.
Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant
Authors: Michael Alexander Weinreich, Tiphanie P Vogel, V Koneti Rao, Joshua D Milner
Journal: Front Pediatr (2017)
Keywords: stat3 transcription factor, autoimmune lymphoproliferative syndrome, gain-of-function mutations, human immunology, monogenic autoimmunity
MeSH terms: Case Reports

The number of identified monogenic causes of childhood-onset autoimmunity due to nodal and extranodal lymphoproliferation has increased. These pathogenic genetic variants provide the potential for pathway-specific treatment. Novel variants also require pathway-specific verification. In this report, we describe a 14-year-old patient with a novel variant in STAT3. We report clinical and laboratory findings that support STAT3 p.G419R as a novel pathogenic STAT3 gain-of-function variant.
Acute intestinal obstruction revealing synchronous gastrointestinal stromal tumors in a small bowel diverticulum and mucinous adenocarcinoma of the colon: a case report
Authors: El Ochi Mohamed Reda, Jahid Ahmed, El Ktaibi Abderrahim, Znati Kawtar, Zouaidia Fouad, Bernoussi Zakia, Mahassini Najat
Journal: Pan Afr Med J (2015)
Keywords: intestinal obstruction, colon, stromal tumors
MeSH terms: Adenocarcinoma, Mucinous / diagnosis, Diverticulum / diagnosis, Gastrointestinal Stromal Tumors / diagnosis, Ileal Diseases / diagnosis, Ileal Neoplasms / diagnosis, Intestinal Obstruction / diagnosis, Neoplasms, Multiple Primary / diagnosis, Sigmoid Diseases / diagnosis, Sigmoid Diseases / surgery, Sigmoid Neoplasms / diagnosis, Sigmoid Neoplasms / surgery, Case Reports, Adenocarcinoma, Mucinous / pathology, Adenocarcinoma, Mucinous / surgery, Colon, Sigmoid / pathology, Colon, Sigmoid / surgery, Diverticulum / pathology, Diverticulum / surgery, Gastrointestinal Stromal Tumors / pathology, Gastrointestinal Stromal Tumors / surgery, Humans, Ileal Diseases / pathology, Ileal Diseases / surgery, Ileal Neoplasms / pathology, Ileal Neoplasms / surgery, Ileum / pathology, Ileum / surgery, Intestinal Obstruction / pathology, Intestinal Obstruction / surgery, Male, Middle Aged, Neoplasms, Multiple Primary / pathology, Neoplasms, Multiple Primary / surgery, Sigmoid Diseases / pathology, Sigmoid Neoplasms / pathology

Gastrointestinalstromal tumors are rare neoplasms and represent 0,1% to 3% of all gastrointestinal cancers. They are the most frequent mesenchymal neoplasms of the gastrointestinal tract with a malignant potential and unpredictable behavior. The synchronous association with other primary gastrointestinal carcinoma has been rarely reported in the literature with increasing number in the last ten years. The associated Gastrointestinalstromal tumor is usually discovered incidentally during surgery for carcinoma. The limited number of these cases cannot confirm the existence of a common factor in tumorigenesis of these different tumors and other studies are needed to clarify the possible association. We report the first case in the literature of synchronous primary Gastrointestinalstromal tumors developed in small bowel diverticulum and mucinous adenocarcinoma of the colon.
Key words:
Synchronous, Gastrointestinalstromal tumors, Adenocarcinoma, Colon.
An unusual presentation of metastatic colon adenocarcinoma in the oral cavity
Authors: Abhilash Bhaskaran, Sam Harding, David Courtney
Journal: Case Rep Dent (2011)
MeSH terms: Case Reports

Background. A case report of a nonhealing ulcer of the tongue histologically proven to be adenocarcinoma. Method. A 92-year-old man underwent clinical, immunochemistry, and imaging investigation. Results. Tests confirmed a distant metastasis of a primary colorectal carcinoma. Conclusion. Metastasis from colorectal carcinoma to the oral cavity is primarily to bone, but non-healing ulcers of the oral cavity should be considered in differential diagnoses.
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion
Authors: Qi Li, Zhen Zhang, Yuchun Yan, Ping Xiao, Zhijie Gao, Wei Cheng, Lin Su, Kaihui Yu, Hua Xie, Xiaoli Chen, Qian Jiang, Long Li
Journal: Mol Cytogenet (2015)
Keywords: 8q233-q2412 deletion, annular pancreas, chinese, trichorhinophalangeal syndrome type ii, qpcr
MeSH terms: Case Reports

Background:
Trichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Loss of functional copies of the TRPS1 gene at 8q23.3 and the EXT1 gene at 8q24.11 are considered to be responsible for the syndrome.
Case presentation:
Herewith, we report an 8-year-old girl with sparse scalp hair, bulbous nose, thin upper lip, broad eyebrows, phalangeal abnormalities of both hands/toes, multiple exostoses, mild intellectual impairment and severe malnutrition. In addition, the patient also had annular pancreas, a rare co-existing feature in patients with TRPS II.
Conclusions:
A contiguous 5.47 Mb deletion involving 8q23.3-q24.12 was detected by array comparative genomic hybridization (aCGH), leading to haploinsufficiency of 10 protein coding genes, 1 long non-coding RNA and 1 microRNA. Quantitative PCR (qPCR) examination confirmed half-reduced DNA copy of the patient and normal expression of both parents, indicating a de novo origin of the deletion and complete penetrance of the mutation.