Effectiveness of Extracorporeal Shockwave Therapy on Controlling Spasticity in Cerebral Palsy Patients: A Meta-Analysis of Timing of Outcome Measurement.

Extracorporeal shockwave therapy (ESWT) has been suggested as an alternative treatment for reducing spasticity in patients with cerebral palsy (CP). However, the duration of its effect was rarely known. A meta-analysis was performed to investigate the effectiveness of ESWT at controlling spasticity in patients with CP according to the follow-up period. We included studies in which ESWT was used to manage spasticity in patients with CP, and the effect was compared with that in a control group. Finally, three studies were included. In the meta-analysis, spasticity, measured using the modified Ashworth scale (MAS), was significantly reduced after ESWT compared with that in the control group; however, it was sustained for only 1 month. After ESWT, significant increases in passive ankle range of motion (ROM) and plantar surface area in the standing position were observed compared with those in the control group and sustained for up to 3 months. Although spasticity measured using MAS was significantly reduced for only 1 month, improvement in spasticity-associated symptoms, such as ankle ROM and plantar surface area contacting the ground, persisted for over 3 months. ESWT appears to be a useful and effective therapeutic option for managing spasticity in patients with CP.

Effects of early clinical and basic laboratory exposure program on premedical students: a questionnaire survey.

BACKGRUOUND: Because premed students do not take courses related to medicine during their first 2 years, they cannot establish their identity as students at medical schools, making it difficult for them to set goals as future doctors. We conducted an early clinical and basic laboratory exposure program for premed students and studied the effects of the program and student satisfaction levels. METHODS: We performed an early clinical and basic laboratory exposure program for premed students for 2 days and evaluated the effects of the program and student satisfaction with it. The program consisted of two types: type 1, where two to four students formed a group, which was assigned to a particular department to participate and make observations during ward rounds, outpatient clinics, examinations, procedures, and surgeries (in the case of basic laboratory work, the students partook in experimental observations); and type 2, where one student followed a medical school professor to observe the professor's day. After the program ended, an online survey was conducted to investigate the effects on students, their thoughts, and satisfaction levels. RESULTS: In total, 114 students (91.2%) responded to the survey. Approximately 94% of them were satisfied with the program. They found that the program would be useful for deciding on future career paths, gaining knowledge about a department of interest, studying for a medical program after premedical studies, and befriending residents and professors in certain departments. CONCLUSION: Early clinical and basic laboratory exposure programs are recommended for premedical students.

Rapid Molecular Tests for Detecting Respiratory Pathogens Reduced the Use of Antibiotics in Children.

Multiplex polymerase chain reaction (mPCR) is increasingly being used to diagnose infections caused by respiratory pathogens in pediatric inpatient facilities. mPCR assays detect a broader array of viruses, with higher specificity and sensitivity and faster turnaround than previous assays. We adapted the FilmArray Respiratory Panel (FA-RP) for diagnosing respiratory infections. FA-RP is an in vitro mPCR assay that simultaneously and rapidly (in about 1 h) detects 20 pathogens directly from respiratory specimens. Here, we studied the clinical efficacy of FA-RP in children who underwent testing for respiratory pathogens at Yeungnam University Hospital from November 2015 to August 2018. From November 2015 to June 2016, routine mPCR testing was performed on nasopharyngeal swabs using the routine mPCR kit. From November 2016 to July 2018, mPCR testing was performed using FA-RP. A total of 321 tests by routine mPCR and 594 tests by FA-RP were included. The positive detection rates for routine mPCR and FA-RP were 71.3% and 83.3%, respectively. FA-RP reduced the lead time, waiting time, turnaround time, intravenous (IV) antibiotic use, and length of hospital stay for pediatric patients. The decreased use of antibiotics is expected to reduce antibiotic resistance in children.

A new type of oculocutaneous albinism with a novel OCA2 mutation.

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing skin cancer. Currently, there is no ophthalmologic procedure or drug that prevents the clinical features of OCA. Here, we report a new type of OCA in two, unrelated Korean families with the same OCA2 mutation. Affected individuals in this study are different from those of previous reports in two aspects: an inheritance pattern and clinical presentation. All reported patients with OCA have shown an autosomal recessive inheritance pattern, while our patients showed an autosomal dominant inheritance pattern. Small amounts of pigment can be acquired with age in OCA, but there is no substantial variation from adolescence to adulthood in this regard. A case where the patient attained normal pigmentation levels has never been reported. However, our patients displayed completely normal pigmentation in their late twenties. Whole exome sequencing and in-silico analysis revealed a novel mutation, OCA2 c.2338G>A p.(G780S) (NM_000275) with a high likelihood of pathogenicity. Sanger sequencing of p.G780S identified the same mutation in the affected individuals, which was not found in the family members with normal phenotype. We hypothesize that OCA2 G780S not only acts as a pathogenic variant of OCA but also induces pigmentation by enhancing the melanogenesis gene expression of other modifier genes, such as SLC45A2 and TPC2. These findings may provide further understanding of melanin biosynthesis and new treatment methods for OCA.

A Child Who Suddenly Freezes While Trying to Cross Crosswalks-Unique Clinical Manifestation of Paroxysmal Kinesigenic Dyskinesia: A Case Report.

(1) Background: We report the case of a patient with a unique clinical presentation of inability to cross crosswalks due to paroxysmal kinesigenic dyskinesia (PKD). (2) Case presentation: A 14-year-old boy presented with the inability to move his right leg at gait initiation from the standing position. This episode lasted for approximately 20-30 s and manifested 1-3 times a day. The difficulty in gait initiation usually occurred when the patient tried to cross crosswalks when the traffic light turned from red to blue. His right arm stiffened occasionally while trying to write with a pencil and eat food with a spoon or chopsticks. Other neurological manifestations and pain were absent during these episodes. No neurological symptoms were observed between the attacks. Brain magnetic resonance imaging did not reveal any abnormalities. A next-generation sequencing study revealed a pathological variant in the proline-rich transmembrane protein 2 (PRRT2) gene. The patient was diagnosed with PKD. His symptoms disappeared completely after treatment with carbamazepine (100 mg/day). (3) Conclusions: The symptoms of PKD can be successfully controlled using antiepileptic medications. Therefore, clinicians should be aware of the clinical manifestations of PKD to provide appropriate treatment.

Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

In the original publication of this article, Fig. 2 was published incorrectly.

Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

Gaucher disease (GD) is caused by a hereditary deficiency of glucocerebrosidase, resulting in accumulation of glucosylceramide and potentially manifesting as hepatosplenomegaly. We report the case of a 15-month-old boy with chronic neuronopathic GD. The patient had prolonged anemia despite continued iron supplementation for 3 months. White blood count (WBC), hemoglobin (Hb), platelet count, and corrected reticulocyte count were 3,300 /µL, 8.7 g/dL, 90,000 /µL, and 0.55, respectively. The patient had microcytic hypochromic anemia with mildly elevated ferritin. Physical examination revealed hepatosplenomegaly. Bone-marrow aspiration showed sheets of Gaucher cells. Glucocerebrosidase activity in monocytes was significantly lower than normal. Genetic analysis revealed a homozygous L444P mutation of GBA, and he was diagnosed with type 1 GD. Enzyme replacement treatment (ERT) consisting of imiglucerase was initiated and was effective; WBC, Hb, and platelet count gradually normalized and the hepatosplenomegaly improved. However, when the patient entered elementary school, he showed mild impaired cognitive function, and supranuclear gaze palsy occurred the same year. He was ultimately diagnosed with type 3 GD and continued ERT. Pediatric hemato-oncologists should be aware of GD, especially when patients exhibit anemia refractory to iron therapy, radiologic bone deformity, neurologic signs or symptoms, and growth retardation.

Antiepileptic and anti-neuroinflammatory effects of red ginseng in an intrahippocampal kainic acid model of temporal lobe epilepsy demonstrated by electroencephalography.

Background: Chronic inflammation can lower the seizure threshold and have influence on epileptogenesis. The components of red ginseng (RG) have anti-inflammatory effects. The abundance of peripherally derived immune cells in resected epileptic tissue suggests that the immune system is a potential target for anti-epileptogenic therapies. The present study used continuous electroencephalography (EEG) to evaluate the therapeutic efficacy of RG in intrahippocampal kainic acid (IHKA) animal model of temporal lobe epilepsy. Methods: Prolonged status epilepticus (SE) was induced in 7-week-old C57BL/6J mice via stereotaxic injection of kainic acid (KA, 150 nL; 1 mg/mL) into the right CA3/dorsal hippocampus. The animals were implanted electrodes and monitored for spontaneous seizures. Following the IHKA injections, one group received treatments of RG (250 mg/kg/day) for 4 weeks (RG group, n=7) while another group received valproic acid (VPA, 30 mg/kg/day) (VPA group, n=7). Laboratory findings and pathological results were assessed at D29 and continuous (24 h/week) EEG monitoring was used to evaluate high-voltage sharp waves on D7, D14, D21, and D28. Results: At D29, there were no differences between the groups in liver function test but RG group had higher blood urea nitrogen levels. Immunohistochemistry analyses revealed that RG reduced the infiltration of immune cells into the brain and EEG analyses showed that it had anticonvulsant effects. Conclusion: Repeated treatments with RG after IHKA-induced SE decreased immune cell infiltration into the brain and resulted in a marked decrease in electrographic seizures. RG had anticonvulsant effects that were similar to those of VPA without serious side effects.

Clinical importance of F-waves as a prognostic factor in Guillain-Barré syndrome in children.

PURPOSE: A limited number of studies have examined the link between F-wave abnormalities and clinical presentation in pediatric Guillain-Barré syndrome (GBS). Therefore, this study examined the importance of F-wave abnormalities as a prognostic factor in pediatric GBS patients. METHODS: The records and electrodiagnostic studies (EDS) of 70 GBS patients were retrospectively evaluated, and divided into 2 groups according to the results of EDS. Group A (n=33) presented with F-wave abnormalities, and group B (n=26) exhibited normal findings. We compared laboratory reports, clinical features, response to treatment, and prognosis between the 2 groups. RESULTS: Motor weakness was the most frequently observed symptom for either group. Clinically, the incidence of fever and upper respiratory symptoms differed between the 2 groups, while the prevalence of abnormal deep tendon reflex (DTR) was significantly higher in group A than B (P<0.05). Patients diagnosed with GBS had received intravenous immunoglobulin treatment: 94% in group A and 58% in group B. Furthermore, significantly greater numbers of patients in group A showed H-reflex abnormalities and poor prognosis compared with group B (P<0.05). CONCLUSION: This study demonstrated that F-waves are a clinically important prognostic factor in GBS. F-wave abnormalities were associated with abnormal DTR and poor prognosis in patients. Limited studies have examined the link between F-wave abnormalities and clinical results; therefore, further randomized controlled studies are needed to confirm the clinical characteristics and efficacy of treatments.

Significance of electron dense deposits in patients with minimal change nephrotic syndrome.

BACKGROUND: Minimal change nephritic syndrome (MCNS) is characterized by a lack of obvious abnormalities on light microscopy, but its electron microscopic findings include the negative immunofluorescence findings and the diffuse effacement of the epithelial cell foot processes. Rarely the presence of electron dense deposits (EDDs) has been reported, but its clinical significance remains obscure. METHODS: Eleven patients with MCNS who had the EDD deposited were enrolled in the current study. We compared the clinical characteristics, laboratory results and response to steroid treatment between the two group: the EDD group (n=11; the male-to-female ratio, 8:3) and the non-EDD group (n=13, 8:5). RESULTS: There were no significant differences in most of the laboratory results or response to steroid treatment between the two groups. The frequency of relapses per year was significantly higher in the EDD group (1.1±0.7 times vs. 0.5±0.6 times; p=0.023). These EDDs were found in the mesangium or paramesangium. With no respect to the characteristics of EDDs, our results showed that they did not cause poor treatment outcomes except for the annual frequency of relapse. CONCLUSIONS: Further large-scale studies are warrented to determine the immunologic and prognostic significance of EDDs in patients with MCNS.

A case of tacrolimus-induced encephalopathy after kidney transplantation.

We present a case of tacrolimus-induced encephalopathy after successful kidney transplantation. An 11-year-old girl presented with sudden onset of neurologic symptoms, hypertension, and psychiatric symptoms, with normal kidney function, after kidney transplantation. The symptoms improved after cessation of tacrolimus. Magnetic resonance imaging (MRI) showed acute infarction of the middle cerebral artery (MCA) territory in the right frontal lobe. Three days later, she had normal mental function and maintained normal blood pressure with left hemiparesis. Follow-up MRI was performed on D19, showing new infarct lesions at both cerebral hemispheres. Ten days later, MRI showed further improvement, but brain single photon emission computed tomography (SPECT) showed mild reduction of uptake in both the anterior cingulate gyrus and the left thalamus. One month after onset of symptoms, angiography showed complete resolution of stenosis. However, presenting as a mild fine motor disability of both hands and mild dysarthria, what had been atrophy at both centrum semiovale at 4 months now showed progression to encephalomalacia. There are two points of interest in this case. First, encephalopathy occurred after administration of tacrolimus and improved after discontinuation of the drug. Second, the development of right-side hemiplegia could not be explained by conventional MRI; but through diffusion tensor imaging (DTI) and diffusion tensor tractography (DTT) of white matter tract, visualization was possible.