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Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
BackgroundBardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However,...
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Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families
BackgroundTrichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral...
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Rapid and sensitive detection of Taura syndrome virus (TSV) in shrimp based on an isothermal enzymatic recombinase amplification (ERA) assay
Taura syndrome in shrimp, caused by Taura syndrome virus (TSV), is a disease listed by the World Organisation for Animal Health (OIE) that has been...
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Characteristics of patients with myofascial pain syndrome of the low back
The objective of this study is to determine characteristics of patients with myofascial pain syndrome (MPS) of the low back and the degree to which...
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Central intra-lesional iron deposits as a possible novel imaging marker at 7 Tesla MRI in Susac Syndrome - an exploratory study
BackgroundSusac syndrome (SuS) is a rare autoimmune disease that leads to hearing impairment, visual field deficits, and encephalopathy due to an...
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Black-spot syndrome in Caribbean fishes linked to trematode parasite infection (Scaphanocephalus expansus)
Despite the evidence that diseases have increased in marine taxa, parasites remain underrepresented in studies of marine ecology. Recently,...
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Contrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms
Understanding neurogenetic mechanisms underlying neuropsychiatric disorders such as schizophrenia and autism is complicated by their inherent...
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Altered Signaling and Desensitization Responses in PTH1R Mutants Associated with Eiken Syndrome
The parathyroid hormone receptor type 1 (PTH1R) is a G protein-coupled receptor that plays key roles in regulating calcium homeostasis and skeletal...
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Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
BackgroundThe peroxisome is a ubiquitous single membrane-enclosed organelle with an important metabolic role. Peroxisomal disorders represent a class...
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Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes
PurposeBardet-Biedl syndrome (BBS) is a rare multisystem ciliopathy. The aim of this study was to describe the clinical and genetic features of a...
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A new hybrid algorithm for intelligent detection of sudden decline syndrome of date palm disease
Date palm is an important domestic cash crop in most countries. Sudden Decline Syndrome (SDS) causes a huge loss to the crop both in quality and...
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Primary aldosteronism — a multidimensional syndrome
Primary aldosteronism is a common cause of hypertension and is a risk factor for cardiovascular and renal morbidity and mortality, via mechanisms...
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MRC1 and LYVE1 expressing macrophages in vascular beds of GNAQ p.R183Q driven capillary malformations in Sturge Weber syndrome
Sturge-Weber syndrome (SWS), a neurocutaneous disorder, is characterized by capillary malformations (CM) in the skin, brain, and eyes. Patients may...
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Combination of exercise and GLP-1 receptor agonist treatment reduces severity of metabolic syndrome, abdominal obesity, and inflammation: a randomized controlled trial
BackgroundIdentifying and reducing cardiometabolic risks driven by obesity remains a healthcare challenge. The metabolic syndrome is associated with...
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Parasitism in reef fish communities: evaluating the roles of host traits, habitat use, and phylogeny on infection by Scaphanocephalus (Trematoda)
Parasites represent a critically understudied component of reef communities—a knowledge gap that has become more evident as infectious diseases...
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Susac Syndrome: an uncommon cause of impaired vision
A 35-year-old Caucasian woman presented an abrupt onset of bilateral impaired vision, and arrived to our attention two weeks later. She had a...
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The multimodal imaging features and outcomes of multifocal choroiditis/punctate inner choroidopathy lesion with multiple evanescent white dot syndrome-like features: a retrospective study
BackgroundMultiple evanescent white dot syndrome (MEWDS)-like features is a rare condition triggered by a macular disease or iatrogenic injury,...
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Black spot syndrome in reef fishes: using archival imagery and field surveys to characterize spatial and temporal distribution in the Caribbean
Recently, observations of black spot syndrome (BSS) in Caribbean fishes have been linked to infection by a digenean trematode parasite, Scaphanocephalu...
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A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome
BackgroundWaardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese...
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Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on...
