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Stress load and neurodegeneration after gastrostomy tube placement in amyotrophic lateral sclerosis patients
Dysphagia and progressive swallowing problems due to motoneuron death is one of amyotrophic lateral sclerosis (ALS) symptoms. Malnutrition and body...
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Prophylactic gastrostomy in locally advanced head and neck cancer: results of a national survey among radiation oncologists
BackgroundNutritional complications in patients with locally advanced head and neck cancer (LA-HNC) treated by concurrent chemoradiotherapy (CCRT)...
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Simultaneous Four Supratentorial Lesions Predict Tube Dependency Due to an Impaired Anticipatory Phase of Ingestion
This study aimed to identify the neuroanatomical predictors of oropharyngeal dysphagia and tube dependency in patients with supratentorial or...
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Unplanned hospitalizations in patients with locoregionally advanced head and neck cancer treated with (chemo)radiotherapy with and without prophylactic percutaneous endoscopic gastrostomy
BackgroundCurrent studies about percutaneous endoscopic gastrostomy (PEG) tube placement report equivalent patient outcomes with prophylactic PEG...
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Oral Drug Product Administration via Enteral Feeding Tubes: In Vitro Testing
Medication administration via enteral feeding tubes (EFT) is a necessary practice for patients unable to swallow oral dosage forms due to a medical...
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Modern treatment outcomes for early T-stage oropharyngeal cancer treated with intensity-modulated radiation therapy at a tertiary care institution
BackgroundTransoral surgery (TOS), particularly transoral robotic surgery (TORS) has become the preferred modality in the United States for the...
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A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay,...
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Classic “PCH” Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia
The term Pontocerebellar Hypoplasia (PCH) was initially used to designate a heterogeneous group of fetal-onset genetic neurodegenerative disorders....
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Effects of changing the timing of warfarin administration in combination with fluconazole on prolongation of the PT-INR: a case report
BackgroundFluconazole (FLCZ) inhibits cytochrome P450 (CYP) 2C9, 2C19, and 3A4 and has a drug-drug interaction that potentiates the effects of...
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Fecal Microbiota Transplantation in Amyotrophic Lateral Sclerosis: Clinical Protocol and Evaluation of Microbiota Immunity Axis
The fecal microbial transplantation (FMT) is a therapeutic transplant of fecal microbiota from healthy donors to patients. This practice is aimed at...
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Treatment of supraglottic squamous cell carcinoma with advanced technologies: observational prospective evaluation of oncological outcomes, functional outcomes, quality of life and cost-effectiveness (SUPRA-QoL)
BackgroundOver the past decade, therapeutic options in head and neck supraglottic squamous cell carcinoma have constantly evolved. The classical...
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Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. Whole-exome sequencing (WES)...
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Fusion plasmid enhanced the endemic extensively drug resistant Klebsiella pneumoniae clone ST147 harbored blaOXA-48 to acquire the hypervirulence and cause fatal infection
BackgroundKlebsiella Pneumoniae (Kp) sequence type (ST) 147 has emerged globally and spread rapidly, particularly the extensively drug resistant...
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Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of...
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Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
Rett syndrome is a rare, genetic neurodevelopmental disorder. Trofinetide is a synthetic analog of glycine–proline–glutamate, the N-terminal...
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Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
BackgroundCDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features...
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A nationwide survey of Schaaf-Yang syndrome in Japan
Schaaf-Yang syndrome (SYS) is a congenital disorder characterized by developmental delay, autism spectrum disorder and congenital joint contractures....
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Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the...
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Treatment of ARS deficiencies with specific amino acids
PurposeRecessive cytosolic aminoacyl-tRNA synthetase (ARS) deficiencies are severe multiorgan diseases, with limited treatment options. By loading...
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Ring Chromosome 14
The exact physiopathology of ring chromosome 14 syndrome (RC14) (OMIM#616606) is currently unknown but it definitely does not rely only on the 14q...