Hunter syndrome

BACKGROUND: Mitral stenosis/aortic atresia (MS/AA) has been reported as a high-risk variant of hypoplastic left heart syndrome (HLHS), potentially related to ventriculocoronary connections (VCCs) or endocardial fibroelastosis (EFE) and myocardial hypoperfusion. We aimed to identify echocardiographic and clinical factors associated with early death or transplant in this group. METHODS: Patients with HLHS MS/AA treated at our center between 2000 and 2020 were included...

Down syndrome (DS) is the most common chromosomal disorder in humans. DS is associated with increased prevalence of several ocular sequelae, including characteristic blue-dot cerulean cataract. DS is accompanied by age-dependent accumulation of Alzheimer's disease (AD) amyloid-β (Aβ) peptides and amyloid pathology in the brain and comorbid early-onset Aβ amyloidopathy and colocalizing cataracts in the lens. Quasi-elastic light scattering (QLS) is an established optical technique that noninvasively measures changes in protein size distributions in the human lens in vivo...

BACKGROUND: The National Institutes of Health (NIH) and the American Medical Association (AMA) recommend a sixth-grade reading level for patient-directed content. This study aims to quantitatively evaluate the readability of online information sources related to carpal tunnel surgery using established readability indices. METHODS: Web searches for "carpal tunnel release" and "carpal tunnel decompression surgery" queries were performed using Google, and the first 20 websites were identified per query...

Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disease caused by iduronate-2-sulfatase (IDS) deficiency, leading to accumulation of glycosaminoglycans (GAGs) and the emergence of progressive disease. Enzyme replacement therapy is the only currently approved treatment, but it leaves neurological disease unaddressed. Cerebrospinal fluid (CSF)-directed administration of AAV9.CB7.hIDS (RGX-121) is an alternative treatment strategy, but it is unknown if this approach will affect both neurologic and systemic manifestations...

PURPOSE OF REVIEW: The aim of this article is to review the current echocardiographic considerations in the diagnosis and monitoring of patients with inherited aortopathies. RECENT FINDINGS: Aortic dilation is a key feature in heritable aortopathies, and dissection is a leading cause of morbidity and mortality. New genetic and histopathologic findings are helpful in better understanding these conditions. Non-invasive imaging modalities, including echocardiogram, computerized tomography, and magnetic resonance imaging, are essential in monitoring these patients, as well as providing new prognostic factors of arterial stiffness that may help with risk stratification in the future...

PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals...

Femoroacetabular impingement (FAI) syndrome is a common cause of hip and groin pain in young individuals. FAI syndrome is a triad of signs, symptoms, and imaging findings. Necessary but not sufficient for the diagnosis of FAI syndrome is the presence of cam and/or pincer morphology of the hip. However, pathological thresholds for cam and pincer morphologies are not well-established. Management of FAI syndrome is typically through either physiotherapist-led therapy or surgical intervention. Physiotherapist-led management involves exercises aimed to optimise movement patterns of the hip and pelvis to prevent impingement from occurring, activity modification and analgesia, whereas surgical management involves arthroscopic resection of the cam/pincer morphology and treatment of concomitant soft tissue pathologies such as labral tears, cartilage lesions or ligamentum teres tears...

BACKGROUND: We used the University of Wisconsin cohort to determine the extent to which the EULAR Sjögren's syndrome disease activity index (ESSDAI) was associated with comorbidities that contribute to mortality. METHODS: Our University of Wisconsin, Madison cohort had 111 patients with Sjögren's Disease (SjD) by 2016 ACR/EULAR criteria and 194 control patients with sicca. Our study was performed from March 1st, 2020 through April 1st, 2023. We collected data using a standardized collection tool, including components of the Charlson Comorbidity Index (CCI)...

Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked recessive lysosomal storage disorder due to a mutation in the lysosomal enzyme iduronate-2-sulfatase (IDS) gene. IDS-deficiency leads to a progressive, multisystem accumulation of glycosaminoglycans (GAGs) and results in central nervous system (CNS) manifestations in the severe form. We developed up to clinical readiness a new Hematopoietic Stem Cell (HSC) gene therapy approach for MPS II that benefits from a novel highly effective transduction protocol...

BACKGROUND: Food protein-induced enterocolitis syndrome (FPIES) is a non-immunoglobulin E (IgE) -mediated food allergy predominantly observed in infants and characterized by the delayed onset of vomiting following ingestion of a trigger food. An increase in research and clinical consideration of FPIES has led to the discovery of unique deviations from the standard FPIES triggers and presentations. CASE PRESENTATION: A 34-month-old female patient with a history of consuming okra daily presented to medical attention after developing classic FPIES symptoms to okra beginning at 14-months of age...

BACKGROUND: Since its description in 1790 by Hunter, the nasogastric tube (NGT) is commonly used in any healthcare setting for alleviating gastrointestinal symptoms or enteral feeding. However, the risks associated with its placement are often underestimated. Upper airway obstruction with a NGT is an uncommon but potentially life-threatening complication. NGT syndrome is characterized by the presence of an NGT, throat pain and vocal cord (VC) paralysis, usually bilateral. It is potentially life-threatening, and early diagnosis is the key to the prevention of fatal upper airway obstruction...

INTRODUCTION: Early ecological studies have suggested a link between air pollution and Coronavirus Diseases 2019 (COVID-19); however, the evidence from individual-level prospective cohort studies is still sparse. Here, we have examined, in a general population, whether long-term exposure to air pollution is associated with the risk of contracting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and developing severe COVID-19, resulting in hospitalization or death and who is most susceptible...

BACKGROUND: While many options exist for multivessel coronary revascularization, controversy persists over whether multi-arterial grafting (MAG) confers a survival advantage over single arterial grafting (SAG) and saphenous vein in coronary artery bypass grafting (CABG). We sought to compare longitudinal survival between patients undergoing MAG vs. SAG. METHODS: All patients undergoing isolated CABG with >2 bypass grafts in the Society of Thoracic Surgeons Adult Cardiac Surgery Database (2008-2019) were linked to the National Death Index...

The optimal timing of immunosuppression and post-transplantation cyclophosphamide (PTCy) in haploidentical hematopoietic stem cell transplantation (haplo-HSCT) is unknown. However, cytokine release syndrome (CRS) following haplo-HSCT is associated with worse transplantation outcomes, and the incidence of CRS may be affected by the timing of immunosuppression and PTCy. In this study, we compared CRS and other transplantation outcomes in 2 cohorts receiving different immunosuppression and PTCy schedules following haplo-HSCT...

Pericarditis typically presents with classic symptoms of acute sharp, retrosternal, and pleuritic chest pain. It can have several different underlying causes including viral, bacterial, and autoimmune etiologies. The mainstays of pericarditis treatment are nonsteroidal anti-inflammatory drugs and colchicine with glucocorticoids or other immunosuppressive drugs used for refractory cases and relapse. Myocarditis is an inflammatory disease of the cardiac muscle that is caused by a variety of infectious and noninfectious conditions...

BACKGROUND: Rotational vertebral artery syndrome, also referred to as Bow Hunter's syndrome (BHS), manifests when the vertebral artery (VA) is compressed following head rotation. This compression is often caused by an osteophyte and may lead to symptoms of a posterior stroke. This systematic review aims to shed light on the current management strategies for BHS resulting from osteophytes. Additionally, we present two illustrative cases where the VA compression by an osteophyte was effectively resolved by complete resection of the problematic bone spur...

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The Lysosomal Storage disease known as Mucopolysaccharidosis type II, is caused by mutations affecting the iduronate-2-sulfatase required for heparan and dermatan sulfate catabolism. The central nervous system (CNS) is mostly and severely affected by the accumulation of both substrates. The complexity of the CNS damage observed in MPS II patients has been limitedly explored. The use of mass spectrometry (MS)-based proteomics tools to identify protein profiles may yield valuable information about the pathological mechanisms of Hunter syndrome...

OBJECTIVE: To determine burden and identify correlates of erectile dysfunction (ED) among men with prediabetes (PreD) and type 2 diabetes (T2D) enrolled in the Diabetes Prevention Program (DPP) Outcomes Study (DPPOS). RESEARCH DESIGN AND METHODS: The 2017 DPPOS visit included administration of the International Index of Erectile Function. Of 648 male participants, 88 % (n = 568) completed the survey. Associations between sociodemographic, behavioral, clinical, and glycemic measures at time of ED assessment, and ED were examined using multivariable logistic regression models in men with PreD and T2D separately...

BACKGROUND: Bow Hunter's syndrome is vertebral basilar artery insufficiency caused by mechanical occlusion of the vertebral artery during head rotation. This is often due to the formation of osteophytes, herniated discs, cervical spondylosis, or tumours. However, whether the contralateral vessel is organically stenotic is not well known. CASE SUMMARY: A 79-year-old man was referred to our department for a close examination of syncope because the transient loss of consciousness occurring when he was made to turn his head to the left was reproducibly induced and recovered when his face was returned to the normal position...