161,598 results match your criteria clinical presentation

Incoming HIV virion-derived Gag Spacer Peptide 2 (p1) is a target of effective CD8 T cell antiviral responses.

Cell Rep 2021 May;35(6):109103

Nuffield Department of Medicine, University of Oxford, Oxford OX3 7FZ, UK; National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, Oxford OX4 2PG, UK; Immunocore Ltd, Milton, Abingdon OX14 4RY, UK; Research In Viral Eradication of Reservoirs (RIVER) trial study group. Electronic address:

Persistence of HIV through integration into host DNA in CD4 T cells presents a major barrier to virus eradication. Viral integration may be curtailed when CD8 T cells are triggered to kill infected CD4 T cells through recognition of histocompatibility leukocyte antigen (HLA) class I-bound peptides derived from incoming virions. However, this has been reported only in individuals with "beneficial" HLA alleles that are associated with superior HIV control. Read More

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Nanomaterial-based delivery vehicles for therapeutic cancer vaccine development.

Jie Liang Xiao Zhao

Cancer Biol Med 2021 May 12. Epub 2021 May 12.

CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety & CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology of China, Beijing 100190, China.

Nanomaterial-based delivery vehicles such as lipid-based, polymer-based, inorganics-based, and bio-inspired vehicles often carry distinct and attractive advantages in the development of therapeutic cancer vaccines. Based on various delivery vehicles, specifically designed nanomaterials-based vaccines are highly advantageous in boosting therapeutic and prophylactic antitumor immunities. Specifically, therapeutic vaccines featuring unique properties have made major contributions to the enhancement of antigen immunogenicity, encapsulation efficiency, biocompatibility, and stability, as well as promoting antigen cross-presentation and specific CD8 T cell responses. Read More

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Non-functioning oxyphilic parathyroid carcinoma: a case report.

Surg Case Rep 2021 May 12;7(1):119. Epub 2021 May 12.

Department of Pathology, Showa University Northern Yokohama Hospital, 35-1 Chigasakichuo, Tsuzuki-ku, Yokohama-shi, Kanagawa, Tokyo, 224-8503, Japan.

Background: Non-functioning parathyroid carcinoma is an extremely rare malignancy among endocrine tumors. We report a case in which non-functional oxyphilic parathyroid carcinoma was diagnosed from clinical symptoms and pathological diagnosis.

Case Presentation: The patient was a 42-year-old man with no medical or family history of note. Read More

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Imaging of orbital infectious and inflammatory disease in children.

Pediatr Radiol 2021 May 12. Epub 2021 May 12.

Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., MLC 5031, Cincinnati, OH, 45229-3026, USA.

Most acute nontraumatic periorbital and intraorbital pathologies in pediatric patients have an underlying infectious or inflammatory etiology, and imaging frequently plays a key role in the workup and management of these children. In this paper we review the clinical presentation and imaging findings in children with some of the most common infectious and inflammatory diseases involving the orbit. Basic relevant anatomy and imaging findings on various imaging modalities are also reviewed. Read More

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Diagnostic features of the presumed focal viral retinitis: A case series.

Anu Manandhar

Nepal J Ophthalmol 2020 Jul;12(24):339-346

Tilganga Institute of Ophthalmology, Gaushala, Kathmandu, Nepal.

Introduction: Other than well-known herpetic retinopathies like acute retinal necrosis, progressive outer retinal necrosis and cytomegalovirus retinitis, there are few reports on atypical forms of viral retinitis caused by herpes virus from around the world.

Cases: Presenting symptom was sudden onset of diminution of vision in all 6 cases. Mean duration of symptoms at presentation was 7. Read More

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Variable presentation of diabetic papillopathy and treatment dilemma- A case series.

Nepal J Ophthalmol 2020 Jul;12(24):382-332

Biratnagar Eye Hospital, Biratnagar, Nepal.

Introduction: Diabetic papillopathy (DP) is a diagnosis of exclusion in type 1 and type 2 diabetics with transient disc edema. It was initially described in young patients with type1 diabetes mellitus (DM) as a bilateral disease with minimal visual symptoms which resolved spontaneously. Lately, DP has been a focus of controversy because of its wide clinical spectrum. Read More

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Impact of Patient Socioeconomic Disparities on Time to Tympanostomy Tube Placement.

Ann Otol Rhinol Laryngol 2021 May 12:34894211015741. Epub 2021 May 12.

UPMC Children's Hospital of Pittsburgh, Division of Pediatric Otolaryngology, Pittsburgh, PA, USA.

Objectives: Extensive literature exists documenting disparities in access to healthcare for patients with lower socioeconomic status (SES). The objective of this study was to examine access disparities and differences in surgical wait times in children with the most common pediatric otolaryngologic surgery, tympanostomy tubes (TT).

Methods: A retrospective cohort study was performed at a tertiary children's hospital. Read More

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The Relationship between Serological Testing, Demographics, Clinical Presentation and RT-PCR Testing for COVID-19.

Clin Lab 2021 May;67(5)

Background: Serological tests provide an important tool to diagnose previous exposure to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Herein we describe the relationship between the demographics, clinical characteristics, and molecular investigations and the presence of coronavirus disease 2019 (COVID-19) antibodies.

Methods: Three hundred and four participants, living in Gauteng, South Africa, were screened for COVID-19 antibodies between September 12, and December 12, 2020. Read More

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Incidence and Clinical Characteristics of Paediatric-onset Type 2 Diabetes in Hong Kong: The Hong Kong Childhood Diabetes Registry 2008 to 2017.

Pediatr Diabetes 2021 May 12. Epub 2021 May 12.

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong.

With increasing prevalence of childhood obesity worldwide, the incidence of pediatric-onset type 2 diabetes (T2D) is also increasing in many countries. We aim to analyze the time trend and incidence of T2D in children in Hong Kong from 2008 to 2017, and to characterize clinical characteristics at diagnosis. Data were retrieved from the Hong Kong Childhood Diabetes Registry. Read More

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Characteristics and surgical outcomes of pediatric intracranial aneurysms in Romania.

Turk Neurosurg 2021 Feb 5. Epub 2021 Feb 5.

University of Medicine and Pharmacy Carol Davila, Department of Neurosurgery, Bucharest, Romania.

Aim: Pediatric aneurysms are rare, occurring in under 5% of cases, and their clinical presentation, rupture probability, location, and outcome differ from those in adults. The present study aimed to analyze the demographic characteristics and surgical outcomes of the largest series of patients with pediatric aneurysms reported in Romania, in consideration of the primary factors that lead to good long-term outcomes. Given that all cases involved ruptured aneurysms, we also investigated the ability of microsurgical clipping to prevent massive hemorrhage and aggravation of neurological deficits. Read More

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February 2021

Recent developments in the diagnosis and treatment of extrapulmonary non-tuberculous mycobacterial diseases.

Int J Tuberc Lung Dis 2021 May;25(5):340-349

Department of Clinical Research, ICMR, NIRT, Chennai, India.

Diseases due to pathogenic mycobacteria cause significant health and economic impact on humans worldwide. Although mycobacterial diseases primarily affect the lungs, the involvement of extrapulmonary organs has also gained ground, particularly among individuals with co-existing medical conditions. Besides complex organisms, non-tuberculous mycobacteria (NTM) are also known to cause pulmonary and extrapulmonary diseases. Read More

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Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel mutation in different clinical manifestations.

Eur J Ophthalmol 2021 May 12:11206721211016306. Epub 2021 May 12.

Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey.

Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A () mutation in different clinical manifestations.

Case Description: We report a girl with a presentation of multiple brain and ocular anomalies. Read More

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Filariasis presenting with bicytopenia, progressive splenomegaly and acute renal failure: An unusual case report.

Trop Doct 2021 May 12:494755211002027. Epub 2021 May 12.

Post Graduate Resident, Department of Pathology, 28856Lady Hardinge Medical College, New Delhi, India.

Extra-lymphatic manifestation of filariasis, especially as acute renal failure, is uncommon and may be clinically unsuspected. We document the case of a 60 year old elderly male who presented with bilateral pedal oedema, fatigue and abdominal distension. Investigations revealed severe anaemia, splenomegaly and acute renal failure. Read More

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Critical diagnostic delay associated with unusual presentation of hepatocellular carcinoma (HCC) with orbital metastases: a case report.

Ann Palliat Med 2021 May 11. Epub 2021 May 11.

Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Sant'Orsola-Malpighi Hospital, Bologna, Italy.

Orbital metastases are an extremely rare finding in patients with hepatocarcinoma (HCC), especially as its first presentation. Therefore, the risk of misdiagnosis is high, as well as that of drastic delays of the therapeutic algorithm. Here we report a 71-year-old man presenting with orbital metastases as the initial sign of HCC, whose initial misdiagnosis led to the impossibility to start life-saving cancer treatment. Read More

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ERCP within 6 or 12 h for acute cholangitis: a propensity score-matched analysis.

Surg Endosc 2021 May 11. Epub 2021 May 11.

Center for Advanced Endoscopy, Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Avenue, Rabb-Rose 101, Boston, MA, 02215, USA.

Background: The optimal timing of biliary drainage by endoscopic retrograde cholangiopancreatography (ERCP) for patients with acute cholangitis remains controversial. The aim of our study was to determine if ERCP performed within 6 or 12 h of presentation was associated with improved clinical outcomes.

Methods: Medical records for all patients with acute cholangitis who underwent ERCP at our institution between 2009 and 2018 were reviewed. Read More

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High resolution structural and functional MRI of the hippocampus in young adults with Down syndrome.

Brain Commun 2021 19;3(2):fcab088. Epub 2021 Apr 19.

Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, USA.

Down syndrome is the phenotypic consequence of trisomy 21, with clinical presentation including both neurodevelopmental and neurodegenerative components. Although the intellectual disability typically displayed by individuals with Down syndrome is generally global, it also involves disproportionate deficits in hippocampally-mediated cognitive processes. Hippocampal dysfunction may also relate to Alzheimer's disease-type pathology, which can appear in as early as the first decade of life and becomes universal by age 40. Read More

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Rare case of immunoglobulin G4-related disease arising in gonadal glands with long-term remission without steroid treatment: Discussion and literature review.

IJU Case Rep 2021 May 15;4(3):188-191. Epub 2021 Mar 15.

Department of Nephro-Urology Graduate School of Medical Sciences Nagoya City University Nagoya Japan.

Introduction: Immunoglobulin G4-related disease embraces a wide range of extra-pancreatic manifestations. However, localized pathogenesis in gonadal glands, including testes or seminal vesicles, is rare. The clinical course and therapeutic strategy for this disease have not been clearly characterized. Read More

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Elevated von Willebrand factor levels during heavy menstrual bleeding episodes limit the diagnostic utility for von Willebrand disease.

Res Pract Thromb Haemost 2021 May 4;5(4):e12513. Epub 2021 May 4.

Aflac Cancer and Blood Disorders Center Children's Healthcare of Atlanta Emory University Atlanta GA USA.

Background: Heavy menstrual bleeding (HMB) is often the first bleeding symptom for female individuals with inherited bleeding disorders. Guidelines recommend performing the hemostatic evaluation at HMB presentation. Von Willebrand factor (VWF) levels increase with stress, making it unclear if VWF studies during acute bleeding are beneficial in diagnosing von Willebrand disease (VWD). Read More

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Chronic Nonbacterial Osteomyelitis of the Sternocostoclavicular Region in Adults: A Single-Center Dutch Cohort Study.

JBMR Plus 2021 May 10;5(5):e10490. Epub 2021 Apr 10.

Centre for Bone Quality, Department of Medicine, Division of Endocrinology Leiden University Medical Center Leiden The Netherlands.

Sternocostoclavicular hyperostosis (SCCH) is a rare autoinflammatory bone disorder caused by chronic nonbacterial osteomyelitis (CNO), which is associated with sclerosis and hyperostosis primarily affecting the sternum, the medial end of the clavicles, and the first ribs. Other areas of the axial skeleton may also be affected. The more severe synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is additionally associated with dermatoses and joint manifestations. Read More

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Complement-Mediated Thrombotic Microangiopathy Associated with Lupus Nephritis Treated with Eculizumab: A Case Report.

Case Rep Nephrol Dial 2021 Jan-Apr;11(1):95-102. Epub 2021 Mar 31.

Division of Nephrology, Hypertension and Kidney Transplantation, Department of Medicine, University of California, Irvine, California, USA.

Thrombotic microangiopathies (TMAs) involve multiple organ systems due to the presence of microangiopathic hemolysis. One such condition, atypical hemolytic uremic syndrome (aHUS), is a complement-mediated process that is part of a spectrum of disorders that have underlying complement dysfunction of the alternative pathway due to overactivity or decreased self-nonself discrimination by innate immunity. Complement-amplifying conditions such as pregnancy may unmask a diagnosis of aHUS. Read More

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Co-infection with Coronavirus Disease 2019, previously undiagnosed Human Immunodeficiency Virus, pneumonia and Cytomegalovirus pneumonitis, with possible Immune Reconstitution Inflammatory Syndrome.

IDCases 2021 May 7:e01153. Epub 2021 May 7.

Division of Infectious Diseases, Beth Israel Deaconess Medical Center, Harvard Medical School, 110 Francis Street, Suite GB, Boston, MA, 02215, USA.

Background: Case reports, case series and cohort studies have been published describing the clinical course and outcomes of people living with human immunodeficiency virus (PLWH) who contract coronavirus disease 2019 (COVID-19) pneumonia. However, the majority of the published work focuses on patients with well-controlled human immunodeficiency virus (HIV) on antiretroviral therapy (ART).

Case Presentation: We present a case of a new diagnosis of HIV with Acquired Immune Deficiency Syndrome (AIDS) made simultaneously to diagnosis of COVID-19, with co-infection with pneumonia (PJP) and possible cytomegalovirus (CMV) pneumonitis. Read More

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Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

JIMD Rep 2021 May 18;59(1):90-103. Epub 2021 Mar 18.

Centre for Metabolic Diseases University Hospital Antwerp, University of Antwerp Edegem, Antwerp Belgium.

Monosialotetrahexosylganglioside (GMI) gangliosidosis and Morquio type B (MorB) are two lysosomal storage disorders (LSDs) caused by the same enzyme deficiency, β-galactosidase (βgal). GMI gangliosidosis, associated with GMI ganglioside accumulation, is a neurodegenerative condition characterized by psychomotor regression, visceromegaly, cherry red spot, and facial and skeletal abnormalities. MorB is characterized by prominent and severe skeletal deformities due to keratan sulfate (KS) accumulation. Read More

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A novel homozygous variant in causes severe IUGR, edema, and cardiomyopathy in two fetuses.

JIMD Rep 2021 May 5;59(1):20-25. Epub 2021 Mar 5.

Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.

The C1QBP protein (complement component 1 Q subcomponent-binding protein), encoded by the C1QBP gene, is a multifunctional protein predominantly localized in the mitochondrial matrix. Biallelic variants have previously been shown to give rise to combined respiratory-chain deficiencies with variable phenotypic presentation, severity, and age at onset, from intrauterine with a mostly lethal course, to a late-onset mild myopathy. We present two fetuses, one male and one female, of first-cousin parents, with severe intrauterine growth retardation, oligo/anhydramnios, edema, and cardiomyopathy as the most prominent prenatal symptoms. Read More

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Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.

JIMD Rep 2021 May 8;59(1):3-9. Epub 2021 Jan 8.

Department of Clinical Genomics and Neurology Mayo Clinic Scottsdale Arizona USA.

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the gene encoding the mitochondrial enzyme sterol 27-hydroxylase. Patients with CTX can present with a wide range of symptoms, but most often have evidence of tendon xanthomas along with possible cataracts, atherosclerosis, or neurological dysfunction. Regardless of clinical phenotype, CTX patients typically exhibit levels of cholestanol and bile acid precursors in the circulation that are many fold increased over normal control concentrations. Read More

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Two Atypical Cases of Hantavirus Infection: Experience from a Tertiary Care Unit in Sri Lanka.

Case Rep Infect Dis 2021 21;2021:5555613. Epub 2021 Apr 21.

National Hospital-Kandy, Kandy, Sri Lanka.

Hantaviruses are a large family of enveloped viruses with two medically important families Cricetidae and Muridae which are known to cause rodent-borne diseases worldwide. Some strains cause clinical syndromes with multiorgan involvement in humans such as hantavirus haemorrhagic fever with renal syndrome (HFRS) and hantavirus cardiopulmonary syndrome (HCPS), which is also known as hantavirus pulmonary syndrome. Clinical differentiation of this infection from other endemic infections in Sri Lanka such as leptospirosis and rickettsial infections is extremely difficult due to overlapping clinical and epidemiologic features such as exposure to rodents and farming. Read More

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Auto-brewery syndrome caused by oral fungi and periodontal disease bacteria.

Acute Med Surg 2021 Jan-Dec;8(1):e652. Epub 2021 May 3.

Department of Central Clinical Laboratory Iwate Medical University Hospital Morioka Japan.

Background: Auto-brewery syndrome (ABS) is often caused by fungi in the intestinal tract. We describe a rare case of alcohol production by and periodontal disease bacteria in the oral cavity.

Case Presentation: A man aged in his 60s had a car accident, and alcohol was detected on his breath. Read More

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Two Similar Cases of a Misdiagnosed Anterior Communicating Aneurysm Rupture.

Case Rep Neurol 2021 Jan-Apr;13(1):218-224. Epub 2021 Apr 6.

Department of Neurosurgery, Na Homolce Hospital, Prague, Czechia.

The misdiagnosis of a ruptured aneurysm directly endangers patient's life and health due to the high risk of rebleeding and its sequelae. In this paper, we present two uncommon cases of anterior communicating artery aneurysm rupture with a relatively small intracerebral bleeding, seemingly without a diffuse subarachnoid hemorrhage (SAH), and a relatively mild clinical presentation. In these cases, the initial diagnosis failed, leading to missed aneurysmal ruptures. Read More

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Clinical and Intestinal Histopathological Findings in SARS-CoV-2/COVID-19 Patients with Hematochezia.

Case Rep Gastroenterol 2021 Jan-Apr;15(1):408-417. Epub 2021 Mar 22.

Department of Pathology, NYU Langone Health, New York, New York, USA.

Gastrointestinal (GI) symptoms of SARS-CoV-2/COVID-19 in the form of anorexia, nausea, vomiting, abdominal pain and diarrhea are usually preceded by respiratory manifestations and are associated with a poor prognosis. Hematochezia is an uncommon clinical presentation of COVID-19, and we hypothesize that older patients with significant comorbidities (obesity and cardiovascular) and prolonged hospitalization are susceptible to ischemic injury to the bowel. We reviewed the clinical course, key laboratory data including acute-phase reactants, and drug/medication history in 2 elderly male patients admitted for COVID-19 respiratory failure. Read More

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Relative Adrenocortical Insufficiency Following Radioactive Iodine Therapy for Graves' Disease: A Report of Two Cases.

Hanxin Zhao Yu Ruan

Int J Gen Med 2021 3;14:1641-1646. Epub 2021 May 3.

Department of Endocrinology and Metabolism, Zhejiang University Affiliated Sir Run Run Shaw Hospital, School of Medicine, Hangzhou, People's Republic of China.

Introduction: In recent years, radioactive iodine (RAI) therapy has become a main choice for Graves' disease. The rapid release of thyroid hormones following RAI may on occasion trigger severe events, such as thyroid storm or heart block. This study presents two cases of possible acute adrenocortical insufficiency precipitated by radioiodine therapy. Read More

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Presentation and outcome of COVID-19 in HIV patients with high viral loads and opportunistic infections: a case series.

Ghana Med J 2020 Dec;54(4 Suppl):121-124

Ashanti Regional Health Directorate, Ghana Health Service, Kumasi, Ghana.

Coronavirus disease 2019 (COVID-19) is especially severe in patients with underlying chronic conditions, with increased risk of mortality. There is concern that people living with HIV (PLWH), especially those with severe immunosuppression, and COVID-19 may have severe disease and a negative clinical outcome. Most studies on COVID-19 in PLWH are from Asia, Europe and America where population dynamics, antiretroviral treatment coverage and coexisting opportunistic infections may differ from that in sub-Saharan Africa. Read More

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December 2020