Objective To investigate the application of proton magnetic resonance spectroscopy (1H-MRS) combined with magenetic resonance imaging (MRI) in detecting biochemical metabolism in children with epilepsy. Methods In 20 cases of epilepsy,6 were intractable epilepsy and 8 normal subjects exprienced MRI and single-voxel 1H-MRS exminations by locating in the amygdaloid-hippocampus The signal intensities of N-acetylaspartate(NAA),creatine+phosphocreatine(Cr),choline-containig compounds(Cho) and the ratios of NAA/Cho+cr,NAA/Cho,and NAA/Cr were set into comparison bilaterally between the patients and controls. Results 15 patients were abnormal in 1H-MRS examination The signal intensity of NAA in MRI abnormal area was obviously lower than that in the contralaterals of focus and the controls,the Cho was higher than in the contralaterals and controls;NAA/Cho+Cr (0 59?0 11) and NAA/Cho (1 08?0 36) were lower than those in contralaterals (0 75?0 17,1 40?0 38)and controls (0 77?0 12,1 29?0 48) NAA,Cho,Cr and ratios of NAA/Cho+Cr,NAA/Cho,NAA/Cr of the left and the right side of controls were not significantly different There are decreases of bilateral NAA and ratio NAA/Cho+Cr in 5 out of the 6 children with intractable epilepsy. Conclusions Signal intensity of NAA and ratio NAA/Cho+Cr,NAA/Cho in children with epilepsy were decreased by 1H-MRS detection These spectral abnormalities may reflect neuronal loss or dysfunction,there are bilateral diffuse abnormalities in the intractable epilepsy 1H-MRS may help understand the underlying pathophysiology in children with epilepsy

INTRODUCTIONMyopes are suspected to be poorer at responding to accommodative stimuli than emmetropes, and this may worsen the degree of their myopia. The study aims to compare the abilities of young adult emmetropes and myopes in responding to accommodative stimuli, as indicated by their Accommodation Stimulus Response Curves (ASRCs) in a predominantly Chinese population.

MATERIALS AND METHODSSeventeen emmetropes and 33 myopes aged between 16 and 23 years (mean, 18.6 +/- 1.2) were recruited, of whom 11 were progressing and 22 were non-progressing myopes. The ASRC gradients of subjects were measured using the methods of decreasing distance series (DDS), positive (PLS) and negative lens series (NLS).

RESULTSThe ASRC is method dependent. The gradients of the curves are significantly different among 3 methods of measurement using single-factor ANOVA (F3.057 = 44.815, P <0.01). The slopes of the accommodative errors of all subjects were steeper using the NLS method, and the lags of accommodation increased with elevated demands. No significant differences in ASRC gradients were found between emmetropes, non-progressing myopes and progressing myopes for the range of accommodative demands for each method. Progressing myopes showed the highest error towards the higher demand compared with the emmetropes and non-progressing myopes.

CONCLUSIONAccommodative responses of myopes were more sluggish though there were no statistical differences in ASRC gradients between emmetropes and myopes. It is not certain if the poorer accommodative responses were a cause, or a consequence, of myopia.

Accommodation, Ocular ; Adolescent ; Adult ; Disease Progression ; Female ; Humans ; Male ; Myopia ; physiopathology ; Refraction, Ocular

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia.Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

BACKGROUND: Associations between acne and gastrointestinal comorbidities suggest that microbial dysbiosis and intestinal permeability may promote inflammatory acne, a condition often managed with oral antibiotics. OBJECTIVE: We performed a case-control study to investigate the skin and gut microbiota in 8 acne patients before and after receiving oral minocycline compared to controls matched by age ±5 years, sex, and race. METHODS: DNA was extracted from stool samples and facial skin swabs. Sequencing of the V3V4 region of the bacterial 16S rRNA gene was performed using Illumina MiSeq and analyzed using QIIME/MetaStats 2.0 software. RESULTS: Acne patients included 7 female and 1 male, ages 20~32. Shannon diversity was not significantly different between the skin (p=0.153) or gut (p < 0.999) microbiota of acne patients before and after antibiotics. The gut microbiota in pre-antibiotic acne patients compared to acne-free controls was depleted in probiotics Lactobacillus iners (p=0.001), Lactobacillus zeae (p=0.001), and Bifidobacterium animalis (p=0.026). After antibiotics, the gut microbiota of acne patients was depleted in Lactobacillus salivarius (p=0.001), Bifidobacterium adolescentis (p=0.002), Bifidobacterium pseudolongum (p=0.010), and Bifidobacterium breve (p=0.042), while the skin microbiota was enriched in probiotics Bifidobacterium longum (p=0.028) and Leuconostoc mesenteroides (p=0.029) and depleted in Staphylococcus epidermidis (p=0.009) and Prevotella nigrescens (p=0.028). At the phylum level, significant enrichment of Bacteroidetes in stool of acne patients following antibiotic treatment (p=0.033) led to a decreased Firmicutes to Bacteroidetes ratio. CONCLUSION Minocycline produces significant derangements in the microbiota of the skin and gut, including many probiotic species, highlighting the potential for more targeted antimicrobial treatments for acne.

Background: Periocular dark circles (PDCs) are a common cosmetic complaint. Grading systems based on objective measures have been used but no standard system is in place. Objective: To determine factors associated with subjective and objective PDC severity. Methods: Enrolled patients (n=100) completed a questionnaire comprised of demographic variables, medical history, and self-perception of PDC. Those perceiving PDC graded dissatisfaction on a 10-point scale. Clinical severity (grades 0∼4) and subtype (constitutional, post-inflammatory, vascular, shadow effects, or others) were determined. A Konica Minolta CR-400 chromameter was used to obtain colorimetry measurements (L*a*b* values). The objective average difference in darkness (ΔL*) between the periocular region and the cheek was determined. Comparisons were made using Spearman correlation coefficients (r). Results: Patient dissatisfaction correlated with both clinical severity (r=0.46,p＜0.001) and the ΔL* by colorimetry (r=0.35, p=0.004). Factors associated with subjective dissatisfaction were female sex (r=0.38, p=0.002), higher Fitzpatrick skin type (r=0.42, p=0.001), fewer hours of sleep (r=–0.28, p=0.03), and use of concealer (r=0.35, p=0.004). Factors associated with objective measures were higher Fitzpatrick skin type (r=0.36, p= 0.0007 and r=0.28, p=0.009, respectively), family history of PDC (r=0.34, p＜0.001 and r=0.20, p=0.05), and history of eczema (r=0.45, p＜0.001 and r=0.20, p=0.0504). Clinical severity grading correlated with colorimetric severity (r=0.36, p=0.0003). Conclusion Overall, subjective dissatisfaction was associated with clinical severity. However, factors associated with subjective severity did not necessarily overlap with factors associated with objective severity. These findings highlight the importance of patient-reported grading. There may be added value in incorporating a component of subjective grading into the traditionally objective PDC grading scales.

Background: Periocular dark circles (PDCs) are a common cosmetic complaint. Grading systems based on objective measures have been used but no standard system is in place. Objective: To determine factors associated with subjective and objective PDC severity. Methods: Enrolled patients (n=100) completed a questionnaire comprised of demographic variables, medical history, and self-perception of PDC. Those perceiving PDC graded dissatisfaction on a 10-point scale. Clinical severity (grades 0∼4) and subtype (constitutional, post-inflammatory, vascular, shadow effects, or others) were determined. A Konica Minolta CR-400 chromameter was used to obtain colorimetry measurements (L*a*b* values). The objective average difference in darkness (ΔL*) between the periocular region and the cheek was determined. Comparisons were made using Spearman correlation coefficients (r). Results: Patient dissatisfaction correlated with both clinical severity (r=0.46,p＜0.001) and the ΔL* by colorimetry (r=0.35, p=0.004). Factors associated with subjective dissatisfaction were female sex (r=0.38, p=0.002), higher Fitzpatrick skin type (r=0.42, p=0.001), fewer hours of sleep (r=–0.28, p=0.03), and use of concealer (r=0.35, p=0.004). Factors associated with objective measures were higher Fitzpatrick skin type (r=0.36, p= 0.0007 and r=0.28, p=0.009, respectively), family history of PDC (r=0.34, p＜0.001 and r=0.20, p=0.05), and history of eczema (r=0.45, p＜0.001 and r=0.20, p=0.0504). Clinical severity grading correlated with colorimetric severity (r=0.36, p=0.0003). Conclusion Overall, subjective dissatisfaction was associated with clinical severity. However, factors associated with subjective severity did not necessarily overlap with factors associated with objective severity. These findings highlight the importance of patient-reported grading. There may be added value in incorporating a component of subjective grading into the traditionally objective PDC grading scales.

BACKGROUND/OBJECTIVES: This study examined socio-economic differences in diverse food consumption among children 6–23 months of age in South Asia and Southeast Asian countries. SUBJECTS/METHODS: Data from Demographic and Health Surveys in four countries in South Asia (n = 15,749) and four countries in Southeast Asia (n = 10,789) were used. Survey-design adjusted proportions were estimated for the following 10 food items: grains, legumes, dark green leafy vegetables (DGLV), vitamin A-rich fruits, vitamin A-rich vegetables, other fruits and vegetables (OFV), fish, meat, dairy, and eggs. An equity gap was defined as an arithmetic difference in the proportion of each food item consumed in the past 24-hours between the wealthiest and lowest quintiles and between rural and urban areas, denoted by percentage points (pp). RESULTS: The consumption of most of the 10 food items was higher in the wealthiest quintiles and urban areas across eight countries. The size of equity gaps was greater in Southeast Asia than in South Asia, particularly for vitamin A-rich fruits (3.3–30.0 pp vs. 0.3–19.6 pp), vitamin A-rich vegetables (12.1–26.7 pp vs. 2.4–5.9 pp), meat (17.7–33.4 pp vs. 3.4–13.4 pp), and dairy (14.7–32.5 pp vs. 3.3–11.4 pp). However, the size of equity gap in egg consumption was greater in Southeast Asia than South Asia (11.2–19.8 pp vs. 11.0–26.7 pp). Relatively narrower gaps were seen in the consumption of grains (0.3–12.9 pp), DGLV (0.6–12.4 pp), and fish (0.1–16.8 pp) across all countries. CONCLUSIONS Equity gaps in food consumption differed by socio-economic status and region. Reducing equity gaps in nutrient-rich foods and utilizing regionally available food resources may increase child dietary quality.

Dieulafoy's lesion is rare cause of massive gastrointestinal bleeding. Dieulafoy's lesion is understood to represent a tiny submucosal defect with fibrinoid necrosis at its base, overlying a large, tortous, thick-walled artery in the muscularis mucosa. Although the original descriptions and early reports were of lesions in the proximal stomach, similar lesions have subsequently been reported in the esophagus, duodenum, jejunum, colon and rectum. Rectal Dieulafoy's lesion is rare but it is one of the causes of massive hematochezia. We report two cases of rectal Dieulafoy's lesion that was successfully treated with endoscopic hemostasis by clipping in the elderly patients.
Aged* ; Arteries ; Colon ; Duodenum ; Esophagus ; Gastrointestinal Hemorrhage* ; Hemorrhage ; Hemostasis, Endoscopic ; Humans ; Jejunum ; Mucous Membrane ; Necrosis ; Rectum ; Stomach

PURPOSE: Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells offers the opportunity for rapid screening of aneuploidies and has become an integral part of the current practice in many clinical cytogenetics laboratories. Here, we retrospectively analyzed the results of interphase FISH in 943 amniotic fluid samples and assessed the efficiency of FISH for rapid detection of aneuploidies. METHODS: Interphase FISH for chromosome 13, 18, and 21 was performed in 943 consecutive amniotic fluid samples for rapid diagnosis of aneuploidies referred from 2004 to 2006. Karyotypes from standard cytogenetic analysis were compared to the FISH results. RESULTS: A total of 45 chromosomal rearrangements (4.8%) were found after conventional cytogenetic analysis of the 943 amniotic fluid. After exclusion of known familiar chromosomal rearrangements and inversions (2.1%, 20/943), 2.7% (25/943) were found to have chromosomal abnormalities. Of this group, 0.7% (6/943) were chromosomal abnormalities not detectable by FISH and 2.0% (19/943) were numerical abnormalities detectable by FISH. All 14 cases of Down syndrome (Classic type, 13 cases; Robertsonian type, 1 case) and 5 cases of trisomy 18 were diagnosed and detected by FISH and there were no false-positive or -negative results (specificity and sensitivity=100%). CONCLUSION: The present study demonstrates that FISH can provide a rapid and sensitive clinical method for prenatal identification of chromosome aneuploidies. However, careful genetic counseling is essential to explain the limitations of FISH, including the inability to detect all chromosomal abnormalities and the possibilities of uninformative or false-negative results in some cases.
Amniocentesis ; Amniotic Fluid ; Aneuploidy ; Chromosome Aberrations ; Chromosomes, Human, Pair 13 ; Cytogenetic Analysis ; Cytogenetics ; Down Syndrome ; Female ; Fluorescence ; Genetic Counseling ; In Situ Hybridization ; Interphase ; Karyotype ; Mass Screening ; Prenatal Diagnosis ; Retrospective Studies ; Trisomy

Anesthetic management of pediatric liver transplantation in a patient with osteogenesis imperfecta (OI) requires tough decisions and comprehensive considerations of the cascade of effects that may arise and the required monitoring. Total intravenous anesthesia (TIVA) with propofol and remifentanil was chosen as the main anesthetic strategy. Malignant hyperthermia (MH), skeletal fragility, anhepatic phase during liver transplantation, uncertainties of TIVA in children, and propofol infusion syndrome were considered and monitored. There were no adverse events during the operation. Despite meticulous precautions with regard to the risk of MH, there was an episode of high fever (40degrees C) in the ICU a few hours after the operation, which was initially feared as MH. Fortunately, MH was ruled out as the fever subsided soon after hydration and antipyretics were given. Although the delivery of supportive care and the administration of dantrolene are the core principles in the management of MH, perioperative fever does not always mean a MH in patients at risk for MH, and other common causes of fever should also be considered.
Anesthesia, Intravenous ; Antipyretics ; Child ; Dantrolene ; Fever ; Humans ; Infant* ; Liver Transplantation* ; Malignant Hyperthermia ; Osteogenesis Imperfecta* ; Pediatrics ; Pharmacokinetics ; Propofol