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Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome
BackgroundLowe syndrome is characterized by the presence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules....
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Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome
BackgroundLowe syndrome is an X-linked multisystem disorder affecting eyes, nervous system, and kidney. The main causes are mutations in the OCRL ...
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Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase
The oculocerebrorenal disorder of Lowe syndrome is an X-linked mutation in the gene oculocerebrorenal syndrome of Lowe 1 ( OCRL) , characterized by the...
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Inherited Fanconi syndrome
BackgroundFanconi-Debré-de Toni syndrome (also known as Fanconi renotubular syndrome, or FRST) profoundly increased the understanding of the...
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Overview and Current Advances in Dapsone Hypersensitivity Syndrome
Purpose of ReviewAs a sulfone antibacterial agent, dapsone has been widely used to treat leprosy. Moreover, dapsone is also used in many immune...
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A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test
A 7-year-old boy visited our hospital for a detailed examination of proteinuria identified in a school urinary test. He had short stature, misaligned...
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Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature
BackgroundOculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the...
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Efficacy of acupuncture in refractory irritable bowel syndrome patients: a randomized controlled trial
Previous studies have confirmed that acupuncture for irritable bowel syndrome (IBS) provided an additional benefit over usual care alone. Therefore,...
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Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
BackgroundPhenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual...
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Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome
BackgroundSTAT3 hyperimmunoglobulin E syndrome (STAT3-HIES) also referred to as autosomal dominant HIES (AD-HIES) is an inborn error of immunity...
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The Developmental Trajectories and Long-Term Outcomes of Childhood Tourette Syndrome: a Systematic Review
Purpose of ReviewAlthough much is known about the clinical presentation of Tourette Syndrome (TS), little information exists on the developmental...
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Time-Restricted Eating in Metabolic Syndrome–Focus on Blood Pressure Outcomes
Purpose of the ReviewTime-restricted eating (TRE) is a promising dietary intervention for weight loss and improvement of cardiometabolic risk...
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Phenotypic subtypes of progressive dysexecutive syndrome due to Alzheimer’s disease: a series of clinical cases
Diagnostic criteria for a progressive dysexecutive syndrome due to Alzheimer's disease (dAD) were proposed. Clinical observations suggest substantial...
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Inhibition of NMDA receptors by agmatine is followed by GABA/glutamate balance in benzodiazepine withdrawal syndrome
BackgroundDrug withdrawal syndrome occurs due to abrupt cessation of an addictive substance. Dependence to diazepam can be manifested by withdrawal...
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Onset mechanism of a female patient with Dent disease 2
BackgroundApproximately 15% of patients with Dent disease have pathogenic variants in the OCRL gene on Xq25-26, a condition that is referred to as...
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Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome
Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly...
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Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia
IntroductionFanconi renotubular syndromes (FRTS) are a rare group of inherited phosphaturic disorders with limited Indian as well as global data on...
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Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome
BackgroundDent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight...
