Purpose: This study sought to investigate the perceptions and service needs of tele-physical therapy among people in their 50s and older in Korea. Methods: Subjects were inducted during a 14-day survey of 104 people over the age of 50 in Korea and were administered a questionnaire consisting of 14 questions about their general characteristics and another 14 questions about tele-physical therapy. Results: The general characteristics of the participants (participants’ gender, whether they were single or married, number of cohabiting families, final education, major, job, physical therapy experience, tele-physical therapy experience, presence of a physical therapy worker among relatives, subjective health awareness, chronic disease conditions if any, frequency of drinking, and smoking) were investigated.Among the perceptions of the subjects about tele-physical therapy, the score of ‘awareness’ was the lowest, and that of ‘resolving restrictions on hospital visits’ was the highest. In an analysis of the correlation between perceptions and needs, there was a significant correlation with factors other than ‘awareness’ and ‘information protection’ factors. The regression analysis of necessity and factors revealed that the awareness of necessity increased as the intention to use, health improvement, and time efficiency improved. Conclusion These findings presented the perception and necessity of tele-physical therapy for adults in their 50s or older in Korea. These results will help confirm the demand for tele-physical therapy in this age group in Korea and the need to improve the available physical therapy services.

Schaaf-Yang syndrome (SYS) is a rare genomic imprinting disorder caused by truncating mutations in the paternally derived MAGE family member L2 (MAGEL2) allele. It is also responsible for Prader-Willi syndrome, characterized by neonatal hypotonia, developmental delay, intellectual disability, respiratory distress in early infancy, and arthrogryposis. More than 250 individuals with approximately 57 different molecular variants have been reported since 2013, but the phenotype-genotype association in SYS is not yet fully understood. Here, we describe the case of a Korean patient diagnosed with SYS harboring a mutation in the paternal allele of MAGEL2: c.2895G>A, resulting in a protein change of p.Trp965*. The patient’s phenotype included respiratory distress, arthrogryposis, hypotonia, and feeding difficulty in the early neonatal period. Mild renal dysfunction and hearing impairment were observed during infancy.

Background: School-aged children born very preterm have been suggested to have worse cognitive and behavioral outcomes than children born full-term. Executive function (EF) is a higher level of cognitive function related to academic achievement. The present study aimed to evaluate the cognitive (including EF) and behavioral outcomes of Korean children born extremely preterm (EP) and to analyze any biological or socioeconomic risk factors for poor cognitive outcomes in this population. Methods: A total of 71 infants weighing < 1,000 g at birth or born before 30 weeks of gestation (EP group) who were admitted to the neonatal intensive care unit from 2008 to 2009 were included in this study and compared with 40 term-birth controls. The Korean Wechsler Intelligence Scale for Children-Fourth Edition, Advanced Test of Attention (ATA), Stroop test, Children's Color Trails Test (CCTT), and Wisconsin Card Sorting Test (WCST) were used.Additionally, the Korean Child Behavior Checklist (K-CBCL) and Korean ADHD Rating Scale (K-ARS) were completed. Perinatal and demographic data were collected and analyzed. Results: The mean full-scale intelligence quotient (FSIQ) score in the EP group was significantly lower than that of the term control group (89.1 ± 18.3 vs. 107.1 ± 12.7; P < 0.001).In the EP group, 26 (37%) children had an FSIQ score below 85, compared to only one child (3%) in the control group. Furthermore, the EP group showed significantly worse EF test results (ATA, Stroop test, CCTT, WCST). Except for the higher social immaturity subscore in the EP group, the K-CBCL and K-ARS scores were not different between the two groups. EP children who received laser treatment for retinopathy of prematurity (ROP) had an 8.8-fold increased risk of a low FSIQ score, and a 1-point increase in the discharge weight Z-score decreased the risk of a low FSIQ score by approximately half in this EP cohort. Conclusion This is the first Korean study to investigate the cognitive and behavioral outcomes of school-aged children born EP. In the study cohort, EP children exhibited significantly lower FSIQ scores and EF than their full-term peers, and 37% of them had cognitive problems. Nonetheless, except for social immaturity, the behavioral problems werenot different in EP children. Severe ROP and low discharge weight Z-score were identified as independent risk factors for low FSIQ score after adjusting for birth weight.

Background: School-aged children born very preterm have been suggested to have worse cognitive and behavioral outcomes than children born full-term. Executive function (EF) is a higher level of cognitive function related to academic achievement. The present study aimed to evaluate the cognitive (including EF) and behavioral outcomes of Korean children born extremely preterm (EP) and to analyze any biological or socioeconomic risk factors for poor cognitive outcomes in this population. Methods: A total of 71 infants weighing < 1,000 g at birth or born before 30 weeks of gestation (EP group) who were admitted to the neonatal intensive care unit from 2008 to 2009 were included in this study and compared with 40 term-birth controls. The Korean Wechsler Intelligence Scale for Children-Fourth Edition, Advanced Test of Attention (ATA), Stroop test, Children's Color Trails Test (CCTT), and Wisconsin Card Sorting Test (WCST) were used.Additionally, the Korean Child Behavior Checklist (K-CBCL) and Korean ADHD Rating Scale (K-ARS) were completed. Perinatal and demographic data were collected and analyzed. Results: The mean full-scale intelligence quotient (FSIQ) score in the EP group was significantly lower than that of the term control group (89.1 ± 18.3 vs. 107.1 ± 12.7; P < 0.001).In the EP group, 26 (37%) children had an FSIQ score below 85, compared to only one child (3%) in the control group. Furthermore, the EP group showed significantly worse EF test results (ATA, Stroop test, CCTT, WCST). Except for the higher social immaturity subscore in the EP group, the K-CBCL and K-ARS scores were not different between the two groups. EP children who received laser treatment for retinopathy of prematurity (ROP) had an 8.8-fold increased risk of a low FSIQ score, and a 1-point increase in the discharge weight Z-score decreased the risk of a low FSIQ score by approximately half in this EP cohort. Conclusion This is the first Korean study to investigate the cognitive and behavioral outcomes of school-aged children born EP. In the study cohort, EP children exhibited significantly lower FSIQ scores and EF than their full-term peers, and 37% of them had cognitive problems. Nonetheless, except for social immaturity, the behavioral problems werenot different in EP children. Severe ROP and low discharge weight Z-score were identified as independent risk factors for low FSIQ score after adjusting for birth weight.

Purpose: Given the importance of evaluating the severity of overactive bladder (OAB) symptoms and outcomes after treatment, several questionnaires have been developed to evaluate OAB patients. However, only limited questionnaires are available in Korea for use with Korean patients. Therefore, this study aimed to develop Korean versions of OAB questionnaires through a rigorous linguistic validation process. Methods: The Indevus Urgency Severity Scale, Urgency Perception Scale, Urgency Severity Scale, and Patient Perception of Intensity of Urgency Scale underwent translation and linguistic validation. The linguistic validation procedure consisted of permission for translation, forward translations, reconciliation, back-translation, cognitive debriefing, and proofreading. Two independent bilingual translators translated the original version of each questionnaire, and a panel then discussed and reconciled the 2 initial translations. Next, a third independent bilingual translator performed a backward translation of the reconciled version into English. Five Korean patients diagnosed with OAB were interviewed for cognitive debriefing. Results: Each item of the questionnaires was translated into 2 Korean versions in the forward translation process. Terms such as ‘urgency’ and ‘wetting’ were translated into ordinary language by the translators and adjusted by the panel members to more conceptually equivalent terms in a medical context. In the back-translation process, the panel made a few changes regarding details based on a comparison of the back-translated and original versions. During the cognitive debriefing process, 5 patients provided a few pieces of feedback on the naturalness of the wording of the questionnaires, but generally agreed on the translated terms. Conclusions In this study, the panel produced a successful linguistic validation of Korean versions of multiple OAB questionnaires, which can be utilized to evaluate the severity and treatment outcomes of OAB.

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disorder characterized by two or more tumors of the parathyroid gland, duodenum-pancreas, and anterior pituitary. Membranous nephropathy is the most common manifestation of paraneoplastic glomerulopathy. However, minimal change disease in patients with MEN 1 has yet to be reported. Here, we report a case of minimal change disease in a 59-year-old man with MEN 1, along with a review of the relevant literature.

Pancreatitis, panniculitis, and polyarthritis (PPP) syndrome is a rare but critical disease with a high mortality rate. The diagnostic dilemma of PPP syndrome is the fact that symptoms occur unexpectedly. A 48-year-old man presented with fever and painful swelling of the left foot that was initially mistaken for cellulitis and gouty arthritis. The diagnosis of PPP syndrome was made based on the abdominal CT findings and elevated pancreatic enzyme levels, lobular panniculitis with ghost cells on a skin biopsy, and polyarthritis on a bone scan. The pancreatitis and panniculitis disappeared spontaneously over time, but the polyarthritis followed its own course despite the use of anti-inflammatory agents. In addition to this case, 30 cases of PPP syndrome in the English literature were reviewed. Most of the patients had initial symptoms other than abdominal pain, leading to misdiagnosis. About one-third of them were finally diagnosed with a pancreatic tumor, of which pancreatic acinar cell carcinoma was the most dominant. They showed a mortality rate of 32.3%, associated mainly with the pancreatic malignancy. Therefore, PPP syndrome should be considered when cutaneous or osteoarticular manifestations occur in patients with pancreatitis. Active investigation and continued observations are needed for patients suspected of PPP syndrome.
Abdominal Pain ; Anti-Inflammatory Agents ; Arthritis ; Arthritis, Gouty ; Biopsy ; Carcinoma, Acinar Cell ; Cellulitis ; Diagnosis ; Diagnostic Errors ; Fever ; Foot ; Humans ; Middle Aged ; Mortality ; Pancreatic Neoplasms ; Pancreatitis ; Panniculitis ; Skin ; Tomography, X-Ray Computed

Pancreatitis, panniculitis, and polyarthritis (PPP) syndrome is a rare but critical disease with a high mortality rate. The diagnostic dilemma of PPP syndrome is the fact that symptoms occur unexpectedly. A 48-year-old man presented with fever and painful swelling of the left foot that was initially mistaken for cellulitis and gouty arthritis. The diagnosis of PPP syndrome was made based on the abdominal CT findings and elevated pancreatic enzyme levels, lobular panniculitis with ghost cells on a skin biopsy, and polyarthritis on a bone scan. The pancreatitis and panniculitis disappeared spontaneously over time, but the polyarthritis followed its own course despite the use of anti-inflammatory agents. In addition to this case, 30 cases of PPP syndrome in the English literature were reviewed. Most of the patients had initial symptoms other than abdominal pain, leading to misdiagnosis. About one-third of them were finally diagnosed with a pancreatic tumor, of which pancreatic acinar cell carcinoma was the most dominant. They showed a mortality rate of 32.3%, associated mainly with the pancreatic malignancy. Therefore, PPP syndrome should be considered when cutaneous or osteoarticular manifestations occur in patients with pancreatitis. Active investigation and continued observations are needed for patients suspected of PPP syndrome.
Abdominal Pain ; Anti-Inflammatory Agents ; Arthritis ; Arthritis, Gouty ; Biopsy ; Carcinoma, Acinar Cell ; Cellulitis ; Diagnosis ; Diagnostic Errors ; Fever ; Foot ; Humans ; Middle Aged ; Mortality ; Pancreatic Neoplasms ; Pancreatitis ; Panniculitis ; Skin ; Tomography, X-Ray Computed

Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is characterized by a typical appearance of generalized, thick, yellowish, hyperkeratotic plates with deep erythematous fissures on the skin. Herein, we present the case of a newborn girl with HI that was genetically confirmed by targeted gene panel analysis. The premature baby was encased in an opaque white membrane with erosion covering the skin of the entire body except the lips, with her hands and feet restricted by the membrane. Humidification, emollient, and retinoic acid treatment were started; the thick ichthyosis gradually peeled off and the underlying skin was only covered with thin scales. Targeted gene panel analysis using next-generation sequencing and validation with Sanger sequencing and quantitative polymerase chain reaction analyses confirmed compound heterozygous mutations of the ABCA12 gene (p.N1380S and a partial gene deletion encompassing exon 9). The parents were carriers for each of the identified mutations. Early recognition of the genetic etiology of congenital ichthyosis can, thus, facilitate genetic counseling for patients and their families.

Human umbilical cord blood mesenchymal stem cells (hUCB-MSCs) are used in tissue repair and regeneration; however, the mechanisms involved are not well understood. We investigated the hair growth-promoting effects of hUCB-MSCs treatment to determine whether hUCB-MSCs enhance the promotion of hair growth. Furthermore, we attempted to identify the factors responsible for hair growth. The effects of hUCB-MSCs on hair growth were investigated in vivo, and hUCB-MSCs advanced anagen onset and hair follicle neogeneration. We found that hUCB-MSCs co-culture increased the viability and up-regulated hair induction-related proteins of human dermal papilla cells (hDPCs) in vitro. A growth factor antibody array revealed that secretory factors from hUCB-MSCs are related to hair growth. Insulin-like growth factor binding protein-1 (IGFBP-1) and vascular endothelial growth factor (VEGF) were increased in co-culture medium. Finally, we found that IGFBP-1, through the co-localization of an IGF-1 and IGFBP-1, had positive effects on cell viability; VEGF secretion; expression of alkaline phosphatase (ALP), CD133, and β-catenin; and formation of hDPCs 3D spheroids. Taken together, these data suggest that hUCB-MSCs promote hair growth via a paracrine mechanism.
Alkaline Phosphatase ; Alopecia ; Cell Survival ; Coculture Techniques ; Fetal Blood* ; Hair Follicle ; Hair* ; Humans* ; In Vitro Techniques ; Insulin-Like Growth Factor Binding Protein 1 ; Insulin-Like Growth Factor I ; Intercellular Signaling Peptides and Proteins* ; Mesenchymal Stromal Cells ; Regeneration ; Stem Cells* ; Umbilical Cord* ; Vascular Endothelial Growth Factor A