Development of the Parental Questionnaire for Cerebral Visual Impairment in Children Younger than 72 Months

Background@#and Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. @*Methods@#The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton’s questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child–parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. @*Results@#The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach’s alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. @*Conclusions@#The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

Development of the Parental Questionnaire for Cerebral Visual Impairment in Children Younger than 72 Months

Background@#and Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. @*Methods@#The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton’s questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child–parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. @*Results@#The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach’s alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. @*Conclusions@#The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

A Case of Neonatal Thyrotoxicosis with Cardiac Insufficiency

Neonatal thyrotoxicosis is rare and most of the cases are secondary to maternal Graves’ disease. It is usually transient, but can be associated with significant morbidity and mortality if not recognized promptly and treated adequately. Neonates born to mothers treated with antithyroid drugs or those who receive maternal thyroid blocking antibodies may exhibit normal thyroid function or even hypothyroidism at birth. Since there may not be any obvious symptoms of hyperthyroidism at birth, it may be overlooked. Therefore, such neonates should be evaluated properly and monitored regularly to prevent serious complications of hyperthyroidism. We report a case of a 21-day-old male infant who developed thyrotoxicosis with dyspnea, irritability, tachycardia, and cardiac insufficiency. He was born to a mother who was treated for Graves’ disease with antithyroid drugs during pregnancy. We have also discussed the importance of careful examination and monitoring to prevent the development of clinical hyperthyroidism.

Results of total knee arthroplasty for painless, stiff knees

Background@#Stiff knees, like completely ankylosed or arthrodesed knees, can be painless. Total knee arthroplasty (TKA) for these painless, stiff knees is technically demanding. However, it can correct the alignment and advance the range of motion to improve quality of life. So, we reviewed the preoperative and postoperative results of functional and pain scores, range of motion (ROM) and complications in painless, stiff knees treated by TKA. @*Methods@#Fifteen painless, stiff knees underwent TKA from January 1998 to January 2017. The mean follow-up period was 15.4 (2.4–22.2) years. All the knees were completely ankylosed or arthrodesed. Clinical outcome and complications were evaluated using medical record review, serial plan radiography, ROM assessment, Knee Society score (KSS), Knee Society function score (FS), and a visual analog scale for pain (VAS). @*Results@#All patients were satisfied with their operated knees. Mean KSS and FS scores were improved from 36 and 50.9 to 76.9 and 67.2, respectively (P < 0.001 and P = 0.01). The mean ROM increased from 0º preoperatively to 77.6º (15–130) at the final follow-up (P < 0.001). The mean VAS had worsened from 0 preoperatively to 0.2 postoperatively, however it was not significant (P = 0.1). Major postoperative complications were reported in five of the knees (33.3%). @*Conclusions@#The results of TKA for painless, stiff knees were satisfactory with improved ROM and quality of life. Although some patients had mild pain and complications postoperatively, they were satisfied with the result. However, our study recommends that surgeons should consider the high rate of complications in the completely ankylosed or arthrodesed knees.

Host-Pathogen Dialogues in Autophagy, Apoptosis, and Necrosis during Mycobacterial Infection

Mycobacterium tuberculosis (Mtb) is an etiologic pathogen of human tuberculosis (TB), a serious infectious disease with high morbidity and mortality. In addition, the threat of drug resistance in anti-TB therapy is of global concern. Despite this, it remains urgent to research for understanding the molecular nature of dynamic interactions between host and pathogens during TB infection. While Mtb evasion from phagolysosomal acidification is a well-known virulence mechanism, the molecular events to promote intracellular parasitism remains elusive. To combat intracellular Mtb infection, several defensive processes, including autophagy and apoptosis, are activated. In addition, Mtb-ingested phagocytes trigger inflammation, and undergo necrotic cell death, potentially harmful responses in case of uncontrolled pathological condition. In this review, we focus on Mtb evasion from phagosomal acidification, and Mtb interaction with host autophagy, apoptosis, and necrosis.Elucidation of the molecular dialogue will shed light on Mtb pathogenesis, host defense, and development of new paradigms of therapeutics.

Results of total knee arthroplasty for painless, stiff knees

Background@#Stiff knees, like completely ankylosed or arthrodesed knees, can be painless. Total knee arthroplasty (TKA) for these painless, stiff knees is technically demanding. However, it can correct the alignment and advance the range of motion to improve quality of life. So, we reviewed the preoperative and postoperative results of functional and pain scores, range of motion (ROM) and complications in painless, stiff knees treated by TKA. @*Methods@#Fifteen painless, stiff knees underwent TKA from January 1998 to January 2017. The mean follow-up period was 15.4 (2.4–22.2) years. All the knees were completely ankylosed or arthrodesed. Clinical outcome and complications were evaluated using medical record review, serial plan radiography, ROM assessment, Knee Society score (KSS), Knee Society function score (FS), and a visual analog scale for pain (VAS). @*Results@#All patients were satisfied with their operated knees. Mean KSS and FS scores were improved from 36 and 50.9 to 76.9 and 67.2, respectively (P < 0.001 and P = 0.01). The mean ROM increased from 0º preoperatively to 77.6º (15–130) at the final follow-up (P < 0.001). The mean VAS had worsened from 0 preoperatively to 0.2 postoperatively, however it was not significant (P = 0.1). Major postoperative complications were reported in five of the knees (33.3%). @*Conclusions@#The results of TKA for painless, stiff knees were satisfactory with improved ROM and quality of life. Although some patients had mild pain and complications postoperatively, they were satisfied with the result. However, our study recommends that surgeons should consider the high rate of complications in the completely ankylosed or arthrodesed knees.

Host-Pathogen Dialogues in Autophagy, Apoptosis, and Necrosis during Mycobacterial Infection

Mycobacterium tuberculosis (Mtb) is an etiologic pathogen of human tuberculosis (TB), a serious infectious disease with high morbidity and mortality. In addition, the threat of drug resistance in anti-TB therapy is of global concern. Despite this, it remains urgent to research for understanding the molecular nature of dynamic interactions between host and pathogens during TB infection. While Mtb evasion from phagolysosomal acidification is a well-known virulence mechanism, the molecular events to promote intracellular parasitism remains elusive. To combat intracellular Mtb infection, several defensive processes, including autophagy and apoptosis, are activated. In addition, Mtb-ingested phagocytes trigger inflammation, and undergo necrotic cell death, potentially harmful responses in case of uncontrolled pathological condition. In this review, we focus on Mtb evasion from phagosomal acidification, and Mtb interaction with host autophagy, apoptosis, and necrosis.Elucidation of the molecular dialogue will shed light on Mtb pathogenesis, host defense, and development of new paradigms of therapeutics.

A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. Pathogenic variants in the CYP27B1 gene lead to loss of 1α-hydroxylase activity. We report the case of a 22-month-old toddler who presented with growth retardation and delayed development. The patient exhibited the typical laboratory findings of VDDR1A, including hypocalcemia (calcium: 5.2 mg/dL), elevated serum level of alkaline phosphatase (2,600 U/L), elevated serum level of intact-parathyroid hormone (238 pg/mL), low 1,25(OH)₂D₃ level (11.2 pg/mL), and normal 25(OH)D₃ level (40.7 ng/mL). His height and weight were 76.5 cm and 9.5 kg, respectively (both <3rd percentile). The Bayley Scales of Infant and Toddler Development II indicated significantly delayed development (mental development index <50, psychomotor development index <50). The patient was a compound heterozygous for two novel pathogenic variants in the CYP27B1 gene: c.57_69del (p.Glu20Profs*2) and c.171dupG (p.Leu58Alafs*275), inherited from his mother and father, respectively. The patient showed remarkable improvement after treatment with calcitriol and calcium carbonate.

Relationship between stress and subjective oral dryness in the elderly in a rural region: a pilot study / 대한구강보건학회지

OBJECTIVES: Stress is a psychological reaction to stimuli such as anxiety or threat felt by a person either physically or mentally when placed in a difficult situation. Although a relationship between stress and dry mouth has been reported, it remains understudied. The purpose of this study was to investigate the association between stress and subjective dry mouth among the elderly living in a rural region. METHODS: A total of 214 people aged ≥60 years living in a rural area were recruited with an informed consent for a cross-sectional analysis. Information about stress and subjective dry mouth was obtained by an interview survey with a constructed questionnaire. Data on other potential confounding factors (including oral factors) such as socio-demographic data, health-related behaviors, the number of remaining teeth, and subjective chewing ability were also gathered at the same time. Logistic regression models were used to analyze the relationship of stress and dry mouth using SPSS. RESULTS: The Crude odds ratio (OR) of stress awareness affecting subjective dry mouth was 2.59 (95% confidence interval: 1.43–4.68). After adjusting for sex, education, income, smoking, and alcohol intake, the adjusted OR was 2.52 (95% confidence interval: 1.30–4.87) which was statistically significant. CONCLUSIONS: Elderly people who were stressed had an approximately 2-fold increase in experiencing subjective dry mouth when compared to their stress-free counterparts.

Erratum: Developmental profiles of preschool children with delayed language development / 소아과

In this article, first author's name was misspelled unintentionally.

A successful treatment of hypercalcemia with zoledronic acid in a 15-year-old boy with acute lymphoblastic leukemia

Severe hypercalcemia in children is a rare medical emergency. We present a case of a 15-year-old boy with hypercalcemia (total calcium level, 14.2 mg/dL) with a normal complete blood count, no circulating blasts in the peripheral blood film, and no other signs of acute lymphoblastic leukemia (ALL), including no signs of lymphadenopathy or hepatosplenomegaly. The hypercalcemia was successfully treated with zoledronic acid. As hypercalcemia can be the only presenting symptom of ALL in children, the diagnosis is often delayed. In children presenting with hypercalcemia, malignancies must be considered in the differential diagnosis.

A successful treatment of hypercalcemia with zoledronic acid in a 15-year-old boy with acute lymphoblastic leukemia

Severe hypercalcemia in children is a rare medical emergency. We present a case of a 15-year-old boy with hypercalcemia (total calcium level, 14.2 mg/dL) with a normal complete blood count, no circulating blasts in the peripheral blood film, and no other signs of acute lymphoblastic leukemia (ALL), including no signs of lymphadenopathy or hepatosplenomegaly. The hypercalcemia was successfully treated with zoledronic acid. As hypercalcemia can be the only presenting symptom of ALL in children, the diagnosis is often delayed. In children presenting with hypercalcemia, malignancies must be considered in the differential diagnosis.

Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing

Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family with CdLS carrying a novel pathogenic variant of the SMC1A gene identified by exome sequencing. The proband was a 3-yr-old boy presenting with a developmental delay. He had distinctive facial features without major structural anomalies and tested negative for the NIPBL gene. His younger sister, mother, and maternal grandmother presented with mild mental retardation. By exome sequencing of the proband, a novel SMC1A variant, c.3178G>A, was identified, which was expected to cause an amino acid substitution (p.Glu1060Lys) in the highly conserved coiled-coil domain of the SMC1A protein. Sanger sequencing confirmed that the three female relatives with mental retardation also carry this variant. Our results reveal that SMC1A gene defects are associated with milder phenotypes of CdLS. Furthermore, we showed that exome sequencing could be a useful tool to identify pathogenic variants in patients with CdLS.

In Vitro Antimicrobial Activities of Fusidic Acid and Retapamulin against Mupirocin- and Methicillin-Resistant Staphylococcus aureus

BACKGROUND: The in vitro activities of retapamulin and fusidic acid against clinical isolates of mupirocin-resistant and methicillin-resistant Staphylococcus aureus (MRSA) from Korea are not well understood. OBJECTIVE: This study aimed to determine the activities of retapamulin and fusidic acid against clinical isolates of mupirocin-resistant MRSA. METHODS: Clinical isolates of mupirocin-resistant MRSA were collected from two tertiary hospitals. The minimal inhibitory concentrations of mupirocin, fusidic acid, and retapamulin were determined using agar dilution method. Polymerase chain reaction was used to confirm the identity of the species and the presence of resistance genes. Pulsed-field gel electrophoresis (PFGE) patterns of chromosomal DNA were used to determine the genetic similarity of high-level mupirocin-resistant isolates. RESULTS: Of the 497 MRSA isolates tested, 22 (4.4%) were mupirocin-resistant. Of these, 9 (1.8%) and 13 (2.6%) had high-level and low-level mupirocin resistance, respectively. Analysis of the PFGE patterns of the high-level mupirocin-resistant MRSA isolates identified five clusters. All 13 of the low-level mupirocin-resistant isolates were resistant to fusidic acid but susceptible to retapamulin. However, among the 9 high-level mupirocin-resistant isolates, 56% were resistant to fusidic acid, and all were susceptible to retapamulin. CONCLUSION: Retapamulin is highly active in vitro against Korean clinical isolates of high-level mupirocinand methicillin-resistant Staphylococcus aureus with different genetic backgrounds. Fusidic acid is more active against high-level mupirocin-resistant MRSA than low-level mupirocin-resistant MRSA.

In Vitro Antimicrobial Activities of Fusidic Acid and Retapamulin against Mupirocin- and Methicillin-Resistant Staphylococcus aureus

BACKGROUND: The in vitro activities of retapamulin and fusidic acid against clinical isolates of mupirocin-resistant and methicillin-resistant Staphylococcus aureus (MRSA) from Korea are not well understood. OBJECTIVE: This study aimed to determine the activities of retapamulin and fusidic acid against clinical isolates of mupirocin-resistant MRSA. METHODS: Clinical isolates of mupirocin-resistant MRSA were collected from two tertiary hospitals. The minimal inhibitory concentrations of mupirocin, fusidic acid, and retapamulin were determined using agar dilution method. Polymerase chain reaction was used to confirm the identity of the species and the presence of resistance genes. Pulsed-field gel electrophoresis (PFGE) patterns of chromosomal DNA were used to determine the genetic similarity of high-level mupirocin-resistant isolates. RESULTS: Of the 497 MRSA isolates tested, 22 (4.4%) were mupirocin-resistant. Of these, 9 (1.8%) and 13 (2.6%) had high-level and low-level mupirocin resistance, respectively. Analysis of the PFGE patterns of the high-level mupirocin-resistant MRSA isolates identified five clusters. All 13 of the low-level mupirocin-resistant isolates were resistant to fusidic acid but susceptible to retapamulin. However, among the 9 high-level mupirocin-resistant isolates, 56% were resistant to fusidic acid, and all were susceptible to retapamulin. CONCLUSION: Retapamulin is highly active in vitro against Korean clinical isolates of high-level mupirocinand methicillin-resistant Staphylococcus aureus with different genetic backgrounds. Fusidic acid is more active against high-level mupirocin-resistant MRSA than low-level mupirocin-resistant MRSA.

Zerumbone, Sesquiterpene Photochemical from Ginger, Inhibits Angiogenesis

Here, we investigated the role of zerumbone, a natural cyclic sesquiterpene of Zingiber zerumbet Smith, on angiogenesis using human umbilical vein endothelial cells (HUVECs). Zerumbone inhibited HUVECs proliferation, migration and tubule formation, as well as angiogenic activity by rat aorta explants. In particular, zerumbone inhibited phosphorylation of vascular endothelial growth factor receptor-2 and fibroblast growth factor receptor-1, which are key regulators of endothelial cell function and angiogenesis. In vivo matrigel plug assay in mice demonstrated significant decrease in vascularization and hemoglobin content in the plugs from zerumbone-treated mice, compared with control mice. Overall, these results suggest that zerumbone inhibits various attributes of angiogenesis, which might contribute to its reported antitumor effects.

The Appropriateness of the Items of Korean Ages and Stages Questionnaires (K-ASQ) Developmental Screening Test in Korean Infants and Children

PURPOSE: Since National Health Screening Program for Infants and Children in Korea started from November, 2007, the need to design a new tool that can timely identify infants and chlildren with possible delayed development has been emphasized. The developmental screening devices currently used in Korea are mostly adapted from foreign tests and could be considered inappropriate for children growing in a different cultural background. Therefore, we assessed the appropriateness of Korean-Ages and Stages Questionnaires (K-ASQ) items in Korean infants and children, as a preliminary study to develop a new developmental screening test tool. METHODS: Data on K-ASQ tests that were performed in multicenters as a National Health Screening Program in Korea were analyzed to measure (1) the item difficulty and norm relevance (2) the goodness of fit for factor structure (3) the sensitivity of item for developmental evaluation. A total of 1,696 subjects, 877 boys (51.7%) and 819 girls (48.3%) were studied and with about 50 boys and 50 girls for each age of months, the sample was relatively evenly distributed. RESULTS: Analysis of K-ASQ data showed that (1) The subjects scored higher when compared to the K-ASQ's original criteria. (2) The suitability of confirmative factor structure was insufficient, especially problem solving [x2=41.063, P<0.01, CFI (Comparative Fit Index)=0.929, TLI (Turker-Lewis index)=0.834, RMSEA (Root Mean Square Error Approximation)=0.152] and personal-social domains (x2=55.208, P<0.01, CFI=0.817, TLI=0.573, RMSEA=0.182). (3) Some questions did not show significant difference in the sensitivity of item for developmental evaluation among monthly age groups. CONCLUSION: According to the analysis of previous K-ASQ data, the appropriateness of the questionnaires is good in general, but some questions of problem-solving and personal social domains are not appropriate. We suggested the development of a new developmental screening test tool, which is suitable for Korean infants and children.

Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22 / 소아과

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT (5.6 cmx5.0 cmx7.6 cm) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.

Effects of Dizocilpine (MK-801) via Up-modulation of N-methyl-D-aspartate (NMDA) Receptors on Hypoxic-Ischemic Brain Injury in Neonatal Rats / 대한주산의학회잡지

OBJECTIVE: Several studies have demonstrated the neuroprotective effects of (+)-MK-801 hydrogen maleate (dizocilpine), in various animal models of hypoxic-ischemic (HI) brain injury. However limited data are available on the neonatal model of HI brain injury. The aim of the present study was to investigate the effects of dizocilpine and its mechanisms associated with NMDARs expression in neonatal rat model of HI brain injury. METHODS: In in vivo model, 7d-old rat pups underwent permanent unilateral carotid ligation. The animals were divided into six groups: N, normoxia; H, hypoxia without operation; HS, hypoxia with Sham operation; HO, hypoxia with operation; HV, HO treated with vehicle; HD, HO treated with dizocilpine. Dizocilpine (10 mg/kg) was administered intracerebrally to the rats 30 min before HI brain injury. Rat pups were exposed to hypoxia by placing them for 2 hours in hypoxic incubator (92% N2, 8% O2). In in vitro model, embryonic cortical neuronal cell cultures (from SD rats of embryonic days of 18) were done. The normoxia (N) group was prepared in 5% CO2 incubators. The hypoxia (H), and hypoxia treated with dizocilpine (HD) groups were placed in 1% O2 incubators (94% N2, 5% CO2) for 16 hours. In order to estimation of cell viability and growth, 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl-tetrazolium bromide (MTT) assay was done. The degree of neuronal death was evaluated by morphometric method and the protein expression of each NMDARs was quantified by Real Time-PCR and Western blot. RESULTS: Both in the in vitro and in vivo models, the expressions of NMDAR subunits were lower in the hypoxia group than in the normoxia group, whereas they increased in the hypoxia treated with dizocilpine group compared to the hypoxia group. In vitro model, however, the expressions of NR1, NR2A mRNAs decreased in the H group when compared to the N group, whereas they increased a little in the HD group when compared to the H group. CONCLUSION: Dizocilpine was modulated the degeneration of neuronal cell death in neonatal rat model of HI by preservation of NR expression.

A New Ultrasound Method for Assessment of Head Shape Change in Infants With Plagiocephaly

OBJECTIVE: To compare a new ultrasound measurement method with calliper cephalometry in infants with deformational plagiocephaly (DP) and to assess the differences of two methods according to the severity of DP. METHODS: Fifty-two infants with DP were divided into two groups according to the degree of cranial vault asymmetry (CVA); group 1 included 42 infants with CVA over 10 mm, and group 2 included 10 infants with CVA under 10 mm. Cranial vault asymmetry index (CVAI) and occipital angle ratio (OAR) were measured by using calliper and ultrasound measurements, respectively. The occipital angle was defined as the angle between the lines projected along the lambdoid sutures of the skull. RESULTS: The occipital angles of the affected sides were significantly greater than those of unaffected sides in both groups. The CVAI and OAR were significantly greater in group 1 than in group 2 (CVAI, 9.3%+/-2.3% vs. 4.6%+/-1.5%; OAR, 1.05+/-0.4 vs. 1.01+/-0.0; p<0.05). The OAR was positively correlated with the CVAI in all infants (r=0.789) and in group 1 (r=0.784; p<0.05). CONCLUSION: Our study revealed that OAR using the new ultrasound measurement was positively correlated with the CVAI in infants with DP. Therefore, the occipital angle measurement using ultrasound combined with cephalometry could provide better understanding about the characteristics of the overall cranial bone and lambdoid suture complex in infants with DP.