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A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family
The Dynactin 1 ( DCTN1 ) encodes the p150 subunit of dynactin, which engages retrograde axonal transport. Missense mutations in DCTN1 have been linked...
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ANK3 rs10994336 and ZNF804A rs7597593 polymorphisms: genetic interaction for emotional and behavioral symptoms of alcohol withdrawal syndrome
ObjectiveAlcohol withdrawal syndrome (AWS) is a complex condition associated with alcohol use disorder (AUD), characterized by significant variations...
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Pelvic venous congestion syndrome: female venous congestive syndromes and endovascular treatment options
Pelvic venous congestion syndrome (PVCS) is a common, but underdiagnosed, cause of chronic pelvic pain (CPP) in women.
PVCS occurs usually, but not...
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Patient with composite haemangioendothelioma containing angiosarcoma-like areas in the setting of congenital lymphoedema mimicking Stewart-Treves syndrome: a case report
BackgroundComposite haemangioendothelioma is a rare vascular neoplasm with indolent to intermediate malignant potential. Diagnosis of this disease...
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Post-enucleation socket syndrome—a novel pathophysiological definition
BackgroundThe last definition of the post-enucleation socket syndrome (PESS) by Tyers and Collin—formulated almost 40 years ago in 1982—is...
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Facile discovery of red blood cell deformation and compromised membrane/skeleton assembly in Prader—Willi syndrome
Prader—Willi syndrome (PWS) is a rare congenital disease with genetic alterations in chromosome 15. Although genetic disorders and DNA methylation...
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Asymptomatic Wolff-Parkinson-White Syndrome: An Ounce of Prevention Is Worth the Risk of Cure
Purpose of ReviewWith increased electrocardiogram screening, asymptomatic preexcitation has become more prevalent. Historically, the...
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Patient experiences and perspectives of health service access for carpal tunnel syndrome in Aotearoa New Zealand: a normalisation process theory-informed qualitative study
BackgroundEarly access to care for carpal tunnel syndrome (CTS) can avoid higher rates of surgery and permanent harm yet is often delayed,...
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The ASCEND study: protocol for a feasibility study to evaluate an early social communication intervention for young children with Down syndrome
BackgroundDown syndrome is the most common cause of learning disability, affecting approximately 1 in every 700 babies. Children with Down syndrome...
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Cutaneous microbial biofilm formation as an underlying cause of red scrotum syndrome
BackgroundRed scrotum syndrome is typically described as well-demarcated erythema of the anterior scrotum accompanied by persistent itching and...
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Differences in aphasia syndromes between progressive supranuclear palsy–Richardson’s syndrome, behavioral variant frontotemporal dementia and Alzheimer’s dementia
Language impairments, hallmarks of speech/language variant progressive supranuclear palsy, also occur in Richardson’s syndrome (PSP-RS). Impaired...
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Comparison of Point-of-Care PT-INR by Hand-Held Device with Conventional PT-INR Testing in Anti-phospholipid Antibody Syndrome Patients on Oral Anticoagulation
Evidence on agreement of point-of-care (POC) INR testing with laboratory testing in APS patients on oral anticoagulation (OAC), is scarce. This study...
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Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review
PurposeTo systematically review reported cases of Seckel syndrome (SS) and point out cases associated with central nervous system (CNS) vasculopathy...
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The Impairment Argument and Future-Like-Ours: A Problematic Dependence
In response to criticism of the impairment argument for the immorality of abortion, Bruce Blackshaw and Perry Hendricks appeal to Don Marquis’s...
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DecodeME: community recruitment for a large genetics study of myalgic encephalomyelitis / chronic fatigue syndrome
BackgroundMyalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) is a common, long-term condition characterised by post-exertional malaise,...
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Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature
BackgroundWolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene. It presents with...
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Acute orbital compartment syndrome due to traumatic hemorrhage: 4-year case series and relevant literature review with emphasis on its management
PurposeBlindness in craniomaxillofacial (CMF) injuries may occur due to acute orbital compartment syndrome (AOCS). Primarily, this article aimed to...
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Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)
BackgroundCushing’s syndrome (CS) is associated with an hypercoagulable state and an increased risk of venous thromboembolism (VTE). Evidence-based...
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Hostility Dimensions and Metabolic Syndrome in a Healthy, Midlife Sample
ObjectiveEvidence links trait hostility with components of the metabolic syndrome (MetS), a clustering of cardiometabolic risk factors, but which...