679,667 results match your criteria rare phenomenon

Shattered thyroid gland from blunt neck trauma in a child: A case report.

Nelson H Bansil

Am J Emerg Med 2021 Jun 8;49:163-165. Epub 2021 Jun 8.

Division of Pediatric Emergency Medicine, Children's Hospital of Orange County, Orange, CA, United States. Electronic address:

Thyroid gland rupture in a child secondary to blunt trauma is an extremely rare occurrence. The number of published cases of thyroid gland injuries in children is very limited in the research literature. A case report of shattered thyroid gland in a child is presented. Read More

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A computational pipeline for data augmentation towards the improvement of disease classification and risk stratification models: A case study in two clinical domains.

Comput Biol Med 2021 Jun 6;134:104520. Epub 2021 Jun 6.

Unit of Medical Technology and Intelligent Information Systems, Department of Materials Science and Engineering, University of Ioannina, Ioannina, GR45110, Greece; Department of Biomedical Research, FORTH-IMBB, Ioannina, GR45110, Greece. Electronic address:

Virtual population generation is an emerging field in data science with numerous applications in healthcare towards the augmentation of clinical research databases with significant lack of population size. However, the impact of data augmentation on the development of AI (artificial intelligence) models to address clinical unmet needs has not yet been investigated. In this work, we assess whether the aggregation of real with virtual patient data can improve the performance of the existing risk stratification and disease classification models in two rare clinical domains, namely the primary Sjögren's Syndrome (pSS) and the hypertrophic cardiomyopathy (HCM), for the first time in the literature. Read More

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High throughput proteomic and metabolic profiling identified target correction of metabolic abnormalities as a novel therapeutic approach in head and neck paraganglioma.

Transl Oncol 2021 Jun 9;14(8):101146. Epub 2021 Jun 9.

Department of Otolaryngology Head & Neck Surgery, The Ninth People's Hospital, Shanghai Jiao Tong University, School of Medicine, No. 639, Zhi-Zao-Ju Road, Shanghai 200011, China; Ear Institute, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China. Electronic address:

Head and neck paragangliomas (HNPGLs) are rare neoplasms that represent difficult treatment paradigms in neurotology. Germline mutations in genes encoding succinate dehydrogenase (SDH) are the cause of nearly all familial HNPGLs. However, the molecular mechanisms underlying tumorigenesis remain unclear. Read More

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From the archives of MD Anderson Cancer Center: Concurrent BCR-ABL1 and CRLF2 rearrangements in B-lymphoblast phase of chronic myeloid leukemia.

Ann Diagn Pathol 2021 Jun 5;53:151767. Epub 2021 Jun 5.

Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, United States of America.

The t(9;22)(q34;q11.2), also known as the Philadelphia (Ph) chromosome, results in BCR-ABL1 fusion residing on the derivative chromosome 22. This translocation is characteristic of chronic myeloid leukemia, but also can occur in a substantial subset of B acute lymphoblastic leukemia (B-ALL) cases. Read More

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Anticoagulant-induced hemorrhagic cholecystitis with hemobilia after deceased donor kidney transplant and literature review.

Int J Surg Case Rep 2021 May 26;84:106027. Epub 2021 May 26.

Augusta University, Department of Surgery, United States of America. Electronic address:

Introduction And Importance: Hemobilia and hemorrhagic cholecystitis are uncommon causes of right upper quadrant abdominal pain. The development of intra-gallbladder and biliary bleeding has been primarily associated with abdominal trauma, malignancy, liver transplant, and iatrogenic injury to the biliary tree and vasculature. Spontaneous anticoagulant induced hemorrhagic cholecystitis and hemobilia are incredibly rare events and have only been documented by a handful of case reports. Read More

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Hirschsprung disease with Edward syndrome: A rare association: A case report.

Int J Surg Case Rep 2021 Jun 9;84:106084. Epub 2021 Jun 9.

Department of GI and General Surgery, Tribhuvan University Teaching Hospital, Institute of Medicine, Kathmandu, Nepal. Electronic address:

Introduction And Importance: Edward's syndrome (ES) occurs as a result of trisomy of chromosome 18 and is associated with multisystem congenital anomalies. The association of ES with various gastrointestinal malformations but Hirschsprung disease (HD) is well documented.

Case Presentation: A female infant on her 5th day of life presented with episodes of bilious vomiting along with abdominal distension and no passage of stool. Read More

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A rare case of large left internal maxillary artery pseudoaneurysm secondary to mandibular fracture: A case report and review of the literature.

Int J Surg Case Rep 2021 Jun 9;84:106072. Epub 2021 Jun 9.

Department of Surgery, Division of Trauma and Surgical Critical Care, Kendall Regional Medical Center, Miami, FL, USA; University of South Florida, Tampa, FL, USA.

Introduction And Importance: Pseudoaneurysms secondary to traumatic vessel wall disruption are a rare but potentially fatal complication after traumatic injury. The majority of the cases are found incidentally.

Case Presentation: An 80-year-old woman was brought into our Level 1 Trauma Center after sustaining a ground-level fall with significant facial swelling. Read More

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The incidence, treatment and survival of patients with rare types of rectal malignancies in the Netherlands: A population-based study between 1989 and 2018.

Eur J Cancer 2021 Jun 8;152:183-192. Epub 2021 Jun 8.

Department of Surgical Oncology and Gastrointestinal Surgery, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.

Aim: To describe the incidence, treatment and survival of patients with rare types of rectal malignancies in the Netherlands.

Methods: Data of patients with rectal malignancies diagnosed in the Netherlands between 1989 and 2018 were retrieved from the Netherlands Cancer Registry and grouped according to the RARECARE cancer list. Age-standardised incidence rates were calculated using the European Standard Rate. Read More

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Subacute duodenal obstruction caused by Common Celiaco-Mesenteric Trunk anomaly-A case report.

Int J Surg Case Rep 2021 May 26;83:106043. Epub 2021 May 26.

Department of General Surgery, Grant Government Medical College and Sir J&J Group of Hospitals, Mumbai, India.

Introduction And Importance: The origin of the mesenteric vasculature is highly variable. One such variation is the common celiaco-mesenteric trunk (CMT). To our knowledge, this is the first reported case of subacute duodenal obstruction caused by common CMT. Read More

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Impending cauda equina syndrome due to Kummell disease; A case report and literature review.

Int J Surg Case Rep 2021 May 26;83:106041. Epub 2021 May 26.

The School of Medicine, University of Central Lancashire, Preston, Lancashire, United Kingdom. Electronic address:

Introduction: Kummell disease (KD) is a rare cause of vertebral fracture due to osteonecrosis. The natural history of the disease is characterized by a previous minor trauma, a subclinical window period, and then a symptomatic period presenting with disabling pain, kyphosis, or neurologic deficit.

Importance: As an important but rare cause of non-discogenic cauda equina syndrome. Read More

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Emergency endoscopic surgery for pituitary apoplexy presenting as cerebral infarction in a limited resources condition: A case report.

Int J Surg Case Rep 2021 May 26;83:106015. Epub 2021 May 26.

Department of Surgery, Hanoi Medical University, Hanoi, Viet Nam; Department of Neurosurgery I, Viet Duc University Hospital, Hanoi, Viet Nam. Electronic address:

Introduction And Importance: Pituitary apoplexy is defined as a sudden onset of neurologic deficit due to infarction or hemorrhage of the pituitary tumor. We report a case of emergency endoscopic surgery for pituitary apoplexy presenting as cerebral infarction due to ICA compression in a limited resources condition.

Case Presentation: A 38-year-old female presented with acute onset of severe headache, decreased level of consciousness, decreased visual acuity bilaterally, aphasia, and right hemiparesis. Read More

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A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia.

Eur J Med Genet 2021 Jun 9:104260. Epub 2021 Jun 9.

Department of Pediatrics III, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany; Department of Otorhinolaryngology & Head/Neck Surgery, University Hospital Düsseldorf, Heinrich Heine University, 40225 Düsseldorf, Germany. Electronic address:

Fanconi anemia (FA) due to biallelic mutations in the BRCA2 gene is very rare and associated with an extremely high risk of early-onset of aggressive childhood malignancies, predominantly brain tumors, leukemia, and nephroblastoma. Here, we present a consanguineous family with three affected children of the D1 subtype of FA and describe the clinical consequences of the earliest known biallelic nonsense/stop-gain germ-line mutation in BRCA2, exon 5 c.469A>T, that leads to a premature stop of translation, p. Read More

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Life History Recorded in the Vagino-cervical Microbiome Along with Multi-omics.

Genomics Proteomics Bioinformatics 2021 Jun 9. Epub 2021 Jun 9.

BGI-Shenzhen, Shenzhen 518083, China.

The vagina contains at least a billion microbial cells, dominated by lactobacilli. Here we perform metagenomic shotgun sequencing on cervical and fecal samples from a cohort of 516 Chinese women of reproductive age, and cervical, fecal, and salivary samples from a second cohort of 632 women. Factors such as pregnancy, delivery histories, cesarean section, and breast-feeding were all more important than menstrual cycle in shaping the microbiome, and such information would be necessary before trying to interpret differences between vagino-cervical microbiome data. Read More

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Digital health, big data and smart technologies for the care of patients with systemic autoimmune diseases: Where do we stand?

Autoimmun Rev 2021 Jun 9:102864. Epub 2021 Jun 9.

Department of neuroradiology, A. Rothshield Foundation Hospital, Paris, France. Electronic address:

The past decade has seen tremendous development in digital health, including in innovative new technologies such as Electronic Health Records, telemedicine, virtual visits, wearable technology and sophisticated analytical tools such as artificial intelligence (AI) and machine learning for the deep-integration of big data. In the field of rare connective tissue diseases (rCTDs), these opportunities include increased access to scarce and remote expertise, improved patient monitoring, increased participation and therapeutic adherence, better patient outcomes and patient empowerment. In this review, we discuss opportunities and key-barriers to improve application of digital health technologies in the field of autoimmune diseases. Read More

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A review of the physiological impact of rare earth elements and their uses in biomedical Mg alloys.

Acta Biomater 2021 Jun 9. Epub 2021 Jun 9.

School of Engineering, RMIT University, Melbourne, Victoria 3001, Australia.

Magnesium (Mg) is well-tolerated by the body, displaying exceedingly low toxicity, rapid excretion, and numerous bioactive effects, including improved bone formation and protection against oxidative stresses; further, Mg alloys can be degraded in vivo to allow complete removal of an implant without surgical intervention, avoiding revision surgery and thrombosis concerns seen with permanent implants. Rare earth elements (REEs) have been of particular interest in alloying Mg alloys for nearly a century due to their unique chemical and physical properties but have attracted increasing attention in recent decades. The REEs contribute greatly to the mechanical and biological properties of metal alloys, and so are common in Mg alloys in a wide variety of applications; in particular, they represent the dominant alloying additions in current, clinically applied Mg alloys. Read More

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Fibrosing interstitial lung disease in primary Sjogren syndrome.

Joint Bone Spine 2021 Jun 9:105237. Epub 2021 Jun 9.

Rheumatology Unit, University of Modena and Reggio Emilia, Modena, Italy.

Objectives: Interstitial lung disease (ILD) represents the main pulmonary involvement in primary Sjogren syndrome (pSS). A proportion of patients with pSS develop a progressive fibrosing form of ILD, but no data are available about the prevalence of these patterns in pSS patients. Aim of this monocentric, cross-sectional study was to investigate the prevalence of fibrosing patterns in pSS patients with ILD. Read More

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Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis.

Neurobiol Dis 2021 Jun 9:105421. Epub 2021 Jun 9.

Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Electronic address:

Neurodegenerative disorders like frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are pathologically characterized by toxic protein deposition in the cytoplasm or nucleus of affected neurons and glial cells. Many of these aggregated proteins belong to the class of RNA binding proteins (RBP), and, when mutated, account for a significant subset of familial ALS and FTD cases. Here, we present first genetic evidence for the RBP gene RBM45 in the FTD-ALS spectrum. Read More

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Prediction and interpretation of rare missense variant in OTOG associated with hearing loss.

Genomics 2021 Jun 9. Epub 2021 Jun 9.

Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran. Electronic address:

OTOG encodes for otogelin, a component of the tectorial membrane. This gene is associated with nonprogressive mild-to-moderate hearing loss. However, no studies have yet identified the association between OTOG variation and severe-to-profound hearing loss. Read More

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Myocarditis after SARS-CoV-2 Vaccination: A Vaccine-induced Reaction?

Can J Cardiol 2021 Jun 9. Epub 2021 Jun 9.

Diagnostic and Interventional Radiology Unit, Department of Biomedical Sciences and Morphological and Functional Imaging, "G. Martino" University Hospital Messina, Messina, Italy.

Vaccination plays an important role in the fight against the current pandemic of SARS-CoV-2, in order to minimize the spread of coronavirus disease 2019 (COVID-19) and its life-threatening complications. Myocarditis has been reported as a possible and rare adverse consequence of different vaccines, and its clinical presentation can range from influenza-like symptoms to acute heart failure. We report a case of a 30-year-old male who presented progressive dyspnea and constrictive retrosternal pain after receiving SARS-CoV-2 vaccine. Read More

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Cardiac amyloidosis: Watching the tip of the iceberg emerging from the "heart of the sea".

Int J Cardiol 2021 Jun 9. Epub 2021 Jun 9.

Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Monaldi Hospital, 80131 Naples, Italy.

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Successful perioperative management of a primary pulmonary arterial angiosarcoma - Case report.

Braz J Anesthesiol 2021 Jun 9. Epub 2021 Jun 9.

Hospital Universitari Son Espases, Cardiovascular Surgery, Quiron Clinica Rotger and Head of Service, Lead Consultant Cardiac Surgeon, Palma de Mallorca, Spain.

Introduction: Primary pleomorphic pulmonary angiosarcomas are extremely rare tumors which could be easily mistaken for pulmonary emboli.

Background And Findings: We describe the successful perioperative management of a patient with a pulmonary arterial mass which turned out to be a primary pulmonary angiosarcoma. The severe pulmonary hypertension was a particular challenge compounded with the site and adhesions of the tumor, and pulmonary hemorrhage. Read More

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Platypnea-orthodeoxia syndrome: an intriguing perioperative hypoxemia case report.

Braz J Anesthesiol 2021 Jun 9. Epub 2021 Jun 9.

Centro Hospitalar e Universitário de Coimbra, Serviço de Anestesiologia, Coimbra, Portugal.

Platypnea-orthodeoxia syndrome (POS) is a rare condition of positional hypoxemia and dyspnea. The following is a case of hypoxemia for no obvious reason in the perioperative scenario. A 70-year-old male patient was submitted to a radical prostatectomy. Read More

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Primary mediastinal large B-cell lymphoma chemotherapy: Impact of chemotherapy choice.

Hematol Oncol Stem Cell Ther 2021 Jun 6. Epub 2021 Jun 6.

Department of Hematology, Kuwait Cancer Control Center, Kuwait. Electronic address:

Objective/background: Data generated from retrospective studies on primary mediastinal B-cell lymphoma (PMBCL) outcome are valuable as no prospective phase 3 trials have been conducted in this rare type of lymphoma.

Methods: Our goal was to assess the long-term outcome of 41 patients with PMBCL who were treated at the Kuwait Cancer Center. We evaluated two types of multidrug treatment, R-CHOP (rituximab, vincristine, doxorubicin, cyclophosphamide, and prednisone) and DA-EPOCH-R (etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin, and rituximab), and determined overall survival and complete response (CR) as primary endpoints. Read More

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A hungry Histiocyte, altered immunity and myriad of problems: Diagnostic challenges for Pediatric HLH.

Int J Lab Hematol 2021 Jun 12. Epub 2021 Jun 12.

Division of Pediatric Hematology/Oncology, Department of Pediatrics, VMMC and Safdarjung Hospital, New Delhi, India.

Introduction: Hemophagocytic lymphohistiocytosis (HLH) is an immune deregulation disorder with varied clinical presentation which clinically overlaps with widespread tropical infections.

Methods: We conducted a retrospective chart review of children diagnosed with HLH at our center from February-2017 to October-2020.

Results: Out of the nine diagnosed patients, genetic predisposition was present in three children; two had identified infectious triggers. Read More

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Rare cause of scalp swelling in an infant.

J Paediatr Child Health 2021 Jun 12. Epub 2021 Jun 12.

Infectious Diseases Department, Perth Children's Hospital, Perth, Western Australia, Australia.

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Synthesis and Characterization of Mitochondria-Targeted Triphenylphosphonium Bolaamphiphiles.

Methods Mol Biol 2021 ;2275:27-47

CNR-ISB, Sede Secondaria di Roma-Meccanismi di Reazione c/o Department of Chemistry, Sapienza University, Roma, Italy.

In this chapter we describe: (1) the procedure for the synthesis of four single chain bolaamphiphiles, displaying chains of 12, 16, 20 and 30 methylene units and triphenylphosphonium moieties as headgroups (TPP1-TPP4); (2) the methods used to characterize TPP1-TPP4 spontaneous aggregation in aqueous solution. We illustrate the determination of Krafft point and cac by conductivity measurements and the procedures used to investigate dimensions, morphology, and stability by dynamic and dielectrophoretic laser light scattering, dialysis, transmission electron microscopy, and Raman spectroscopy measurements. Read More

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January 2021

Novel variant fibrinogen γp.C352R produced hypodysfibrinogenemia leading to a bleeding episode and failure of infertility treatment.

Int J Hematol 2021 Jun 12. Epub 2021 Jun 12.

Department of Clinical Laboratory Investigation, Graduate School of Medicine, Shinshu University, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.

Introduction: We identified a patient with a novel heterozygous variant fibrinogen, γp.C352R (Niigata II; N-II), who had a bleeding episode and failed infertility treatment and was suspected to have hypodysfibrinogenemia based on low and discordant fibrinogen levels (functional assay 0.33 g/L, immunological assay 0. Read More

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Efficacy and safety of TAS-115, a novel oral multi-kinase inhibitor, in osteosarcoma: an expansion cohort of a phase I study.

Invest New Drugs 2021 Jun 12. Epub 2021 Jun 12.

Department of Gastrointestinal Oncology, National Cancer Center Hospital East, Kashiwa, Japan.

Background osteosarcoma is a rare, primary malignant bone tumour with limited available treatments for advanced or recurrent disease, resulting in a poor prognosis for patients. TAS-115 is a novel tyrosine kinase inhibitor under investigation in a phase I study in patients with solid tumours. We report data of osteosarcoma patients in the expansion cohort of this ongoing study. Read More

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Geographic clustering of cutaneous T-cell lymphoma in New Jersey: an exploratory analysis using residential histories.

Cancer Causes Control 2021 Jun 12. Epub 2021 Jun 12.

Department of Health, New Jersey State Cancer Registry, Trenton, NJ, USA.

Purpose: Cutaneous T-cell lymphoma (CTCL) is a rare type of non-Hodgkin lymphoma. Previous studies have reported geographic clustering of CTCL based on the residence at the time of diagnosis. We explore geographic clustering of CTCL using both the residence at the time of diagnosis and past residences using data from the New Jersey State Cancer Registry. Read More

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Deletion of Coagulation Factor IX Compromises Bone Mass and Strength: Murine Model of Hemophilia B (Christmas Disease).

Calcif Tissue Int 2021 Jun 12. Epub 2021 Jun 12.

Medical Research Service, Portland Veterans Affairs Health Care System, 3710 SW US Veterans Hospital Road, Portland, OR, 97239, USA.

Osteopenia and osteoporosis have increasingly become a recognized morbidity in those persons with hemophilia (PwH) receiving inadequate prophylactic clotting factor replacement. Animal models can control or eliminate genetic and environmental factors and allow for invasive testing not clinically permissible. Here, we describe the skeletal phenotype of juvenile and adult male mice with a genetically engineered deficiency in coagulation factor IX (FIX KO). Read More

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