Chromosomal microarray (CMA) is considered a first-tier test for genetic analysis as it can be used to examine gene copy number variations (CNVs) throughout the entire genome, with enhanced sensitivity for detecting submicroscopic deletions and duplications. However, its cost can represent a heavy burden. Moreover, the diagnostic yield of CMA in infants with developmental delay (DD) was reported to be less than 10%.
View Article and Find Full Text PDFTo date and to the best of our knowledge, there have been limited studies on the risk factor of clavicle fracture combined with congenital muscular torticollis (CMT), despite it being the most common fracture in newborns. So, the aim of this study was to investigate the risk factors associated with clavicular fracture combined with CMT, and its effect on prognosis. In this study, a total of 134 infants with CMT were included.
View Article and Find Full Text PDFDespite the possibility that the methodological difference of this salivagram may influence the results for detection rate, there has been no study on the effect of the solution volume on detection rate. Moreover, to date, since the introduction of the nucleotide salivagram, there has been a tendency that a constant solution volume and nucleotide dose is not used in studies. Therefore, the aim of this study is to investigate the effect of solution volume on the detection rate of a salivagram in patients with brain lesion, and to determine the optimal solution volume of salivagram.
View Article and Find Full Text PDFDespite the importance of strengthening of the transversus abdominis (TrA) muscle in individuals with low back pain, the effect of real-time ultrasound imaging on maintenance in selective strengthening of abdominal hallowing exercise (AHE) performance has not been investigated. So, the aim of this study was to investigate the effects of AHE with real-time ultrasound imaging feedback on selective reinforcing the TrA muscle.Twenty healthy subjects were enrolled prospectively and randomized to train AHE for 2 weeks either by conventional feedback (group A) or by visual feedback from real-time ultrasound imaging additional to conventional feedback (group B).
View Article and Find Full Text PDFRationale: Ramsay-Hunt's syndrome (RHS) is a disorder characterized by facial paralysis, herpetic eruptions on the auricle, and otic pain due to the reactivation of latent varicella zoster virus in the geniculate ganglion. A few cases of multiple cranial nerve invasion including the vestibulocochlear nerve, glossopharyngeal nerve and vagus nerve have been reported. However, there has been no report about RHS with delayed onset multiple cranial nerve involvement causing severe aspiration, and a clinical course that improved after more than one year of dysphagia rehabilitation and percutaneous endoscopic gastrostomy (PEG).
View Article and Find Full Text PDFMedicine (Baltimore)
March 2018
Rationale: Verbal auditory agnosia is the selective inability to recognize verbal sounds. Patients with this disorder lose the ability to understand language, write from dictation, and repeat words with reserved ability to identify nonverbal sounds. However, to the best of our knowledge, there was no report about verbal auditory agnosia in adult patient with traumatic brain injury.
View Article and Find Full Text PDFObjective: To evaluate the correlation between radionuclide salivagram findings and clinical characteristics in dysphagic patients with brain lesions.
Methods: The medical records of 35 dysphagic patients with brain lesions who simultaneously underwent both a videofluoroscopic swallowing study (VFSS) and radionuclide salivagram were analyzed retrospectively. The subjects were divided into two groups according to the presence of aspiration on a salivagram (group A, patients with aspiration on the salivagram; group B, patients with no aspiration on the salivagram).
The aim of this study was to investigate the effects of intra-articular injection of polydeoxyribonucleotide (PDRN), compared with intraarticular triamcinolone (TA) injection, in subacute stroke patients with hemiplegic shoulder pain (HSP).Participants were subacute stroke patients with HSP who had undergone 2 consecutive intra-articular injections of TA or PDRN.Numeric rating scale (NRS) and passive range of motion (PROM) of hemiplegic shoulder were evaluated until 4 weeks after 2nd injection.
View Article and Find Full Text PDFObjective: To introduce the Korean Database of Cerebral Palsy (KDCP) and to provide the first report on characteristics of subjects with cerebral palsy (CP).
Methods: The KDCP is a nationwide database of subjects with CP, which includes a total of 773 subjects. Characteristics such as demography, birth history, onset and type of CP, brain magnetic resonance imaging (MRI) findings, functional ability and accompanying impairments, were extracted and analyzed.
Posterior drooling, which can lead to substantial respiratory morbidity, including unexplained lung diseases and recurrent pneumonia, is an important issue in the rehabilitation unit. There are various treatment options for posterior drooling, including pharmacologic therapy, oral motor or behavioral therapy, biofeedback, local glandular injection of botulinum toxin, irradiation, and surgery. Among them, nebulized glycopyrrolate has the following advantages: It is noninvasive and is relatively free of central adverse effects because it does not cross the blood-brain barrier unlike other anticholinergics.
View Article and Find Full Text PDFCongenital mirror movements retard typical hand functions, but no definite therapeutic modality is available to treat such movements. We report an 8-year-old boy with severe mirror movements of both hands. His mirror movements were assessed using the Woods and Teuber grading scale and his fine motor skills were also evaluated by the Purdue Pegboard Test.
View Article and Find Full Text PDFObjective: To investigate the effect of botulinum toxin type A (BTXA) on drooling and the morphologic change of the salivary gland in patients with cerebral palsy.
Method: Eight cerebral palsy patients suffering from severe drooling participated in this study. BTXA was injected into both submandibular and parotid glands under intravenous sedation and with ultrasound guidance (1 unit/gland/kg: maximum 100 units) in an outpatient or inpatient procedure.