No abstract available.
Ammonia* ; Pulmonary Fibrosis*

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)x1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.
Child ; Chromosome Deletion ; Chromosome Disorders/diagnosis/*genetics/radiography ; Chromosome Mapping ; Chromosomes, Human, Pair 11/genetics/radiography ; Craniofacial Abnormalities/genetics ; Developmental Disabilities/genetics ; Exostoses, Multiple Hereditary/diagnosis/*genetics/radiography ; Humans ; Male ; Muscle Hypotonia/genetics ; Oligonucleotide Array Sequence Analysis ; Rare Diseases/*genetics ; Republic of Korea

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)x1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.
Child ; Chromosome Deletion ; Chromosome Disorders/diagnosis/*genetics/radiography ; Chromosome Mapping ; Chromosomes, Human, Pair 11/genetics/radiography ; Craniofacial Abnormalities/genetics ; Developmental Disabilities/genetics ; Exostoses, Multiple Hereditary/diagnosis/*genetics/radiography ; Humans ; Male ; Muscle Hypotonia/genetics ; Oligonucleotide Array Sequence Analysis ; Rare Diseases/*genetics ; Republic of Korea

PURPOSE: The purpose of this study is to introduce the operational design of clinical skills training program and to evaluate the outcome of one-year experience in Gachon Medical School. METHODS: The School set up a clinical skills training center(laboratories) helping preclinical year-students being able to improve their clinical competences by using simulators and models prior to start their clerkship so that they can apply accurate and stable clinical technical skills to the patients. The program was divided into two parts; one for the communication and interviewing skills(M3) and the other for development of basic clinical skills(M4). For the latter, a total of 32 skill units with model items were selected from the minimum essential clinical skills requirements. The training course was conducted 3 weeks for 37 students of the fourth year medical school(M4) students in the second semester of 2001. Pass/Fail system with 2 credits was applied as a student evaluation. Both advantages and disadvantages of the program were analysed by questionnaires. RESULTS: Every students met the school requirement and passed the requirements mostly by the second trial within the two weeks duration following self-directed hard practice for every items. Of 37 students, 80% became confident on their final performance, and 72% agreed themselves being much enthusiastic compared to other courses. The visiting frequency to the center was over 2~3 times/day during the course, and their average staying hours/week were 20~30 hours. Students(78%) were satisfactory to the appropriativeness of faculty's instructional skills and their evaluation results. CONCLUSION: We conclude that the clinical skills training program is a useful tool not only to improve the essential technical skills prior to take their responsibilities of subinternship but also to motivate students' learning during the preclinical studies.
Clinical Competence* ; Education* ; Humans ; Learning ; Schools, Medical* ; Surveys and Questionnaires

Extra-ovarian yolk sac tumor arising in the omentum is extremely rare. As yolk sac tumor originated from the omentum has been rarely reported, its clinical information is very limited. The authors encountered a case of yolk sac tumor originated from the omentum, and reported the case herein. A 32-year-old woman was presented with developed low abdominal distension for a month. Magnetic resonance imaging findings were suggestive of ovarian malignancy with ascites and peritoneal seeding nodules. Explorative laparotomy was performed and then the findings from frozen biopsy of omentum were suggestive of poorly differentiated tumor though whether it was primary or metastatic was uncertain. Thus, staging laparotomy were performed. Histopathology confirmed that the tumor was a yolk sac tumor of omentum origin. Then, 6 cycles of postoperative adjuvant chemotherapy at intervals of 3 weeks were performed using bleomycin, etoposide, and cisplatin regimen. Four-year outpatient follow-up thereafter showed no relapse.
Adult ; Ascites ; Biopsy ; Bleomycin ; Chemotherapy, Adjuvant ; Cisplatin ; Endodermal Sinus Tumor* ; Etoposide ; Female ; Follow-Up Studies ; Humans ; Laparotomy ; Magnetic Resonance Imaging ; Omentum* ; Outpatients ; Rare Diseases ; Yolk Sac

OBJECTIVES: The main purpose of this study was to investigate relationship between cumulative trauma disorders(CTDs) and the types of workstation and chair in workers with repetitive motion tasks. METHODS: The study subjects were 77 repetitive motion tasks workers at small manufacturing industries in Seoul and Gyung-gi district area. A questionnaire was used to obtain about health practice for prevention and prevalence of CTDs by worker. The type of Workstations and chairs in workers were measured and analyzed with prevalence of CTDs by logistic regression. RESULTS: Eighty-six percent of workers recognized that work posture was related to workstation and chair. Most employers and employees didn't follow the work practice guidelines for workers with repetitive motion tasks. The prevalence of CTDs was 64% by questionnaire. The prevalence of pain in shoulder, neck, back, and arm were 38%, 15%, 6%, and 5%, respectively, and the pain started after working an average duration of 16.5 months. The CTDs symptoms were significantly related to thickness of workstation, height of workstation, length of knee depth under workstation, height of back rest, height of seat pan, depth of sitting surface, width of sitting surface, and length from workstation surface edge to shoulder. By multiple regression analysis of each risk factor, prevalence of CTDs was highly correlated with height of back rest, height of seat pan, and depth of sitting surface. CONCLUSIONS: This study suggests that workstations should be made adjustable for height and chairs should be equipped with seat pan height control, enough sitting surface for depth and width, back rest height and angle control. The workers should use the right working postures, exercise for health, occupational health education, and rest breaks and the manager of company should be educated for the preventing of CTDs.
Arm ; Cumulative Trauma Disorders* ; Health Education ; Knee ; Logistic Models ; Neck ; Occupational Health ; Posture ; Prevalence ; Questionnaires ; Risk Factors ; Seoul ; Shoulder

The messenger RNA-based vaccine for the coronavirus disease 2019 (COVID-19) may induce glomerulonephritis, including immunoglobulin A nephropathy (IgAN). New-onset IgAN triggered by vaccination against COVID-19 has been reported rarely, especially in children. Herein, we report a pediatric case of newly diagnosed IgAN after administration of the Pfizer vaccine for COVID-19. A 12-year-old girl was referred to our hospital for evaluation of gross hematuria after inoculation with the second dose of Pfizer’s COVID-19 vaccine; she had no adverse effects after the first dose. At the time of admission, she showed heavy proteinuria and persistent hematuria. Kidney biopsy revealed an IgAN, and she was treated with an oral steroid and an angiotensin-converting enzyme inhibitor. Four months after discharge, the proteinuria and hematuria resolved completely.

Exosomes are cell-secreted nano-sized vesicles which deliver diverse biological molecules for intercellular communication. Due to their therapeutic potential, exosomes have been engineered in numerous ways for efficient delivery of active pharmaceutical ingredients to various target organs, tissues, and cells. In vivo administered exosomes are normally delivered to the liver, spleen, kidney, lung, and gastrointestinal tract and show rapid clearance from the blood circulation after systemic injection. The biodistribution and pharmacokinetics (PK) of exosomes can be modulated by engineering various factors such as cellular origin and membrane protein composition of exosomes. Recent advances accentuate the potential of targeted delivery of engineered exosomes even to the most challenging organs including the central nervous system. Major breakthroughs have been made related to various imaging techniques for monitoring in vivo biodistribution and PK of exosomes, as well as exosomal surface engineering technologies for inducing targetability. For inducing targeted delivery, therapeutic exosomes can be engineered to express various targeting moieties via direct modification methods such as chemically modifying exosomal surfaces with covalenton-covalent bonds, or via indirect modification methods by genetically engineering exosome-producing cells. In this review, we describe the current knowledge of biodistribution and PK of exosomes, factors determining the targetability and organotropism of exosomes, and imaging technologies to monitor in vivo administered exosomes. In addition, we highlight recent advances in strategies for inducing targeted delivery of exosomes to specific organs and cells.

Exosomes are cell-secreted nano-sized vesicles which deliver diverse biological molecules for intercellular communication. Due to their therapeutic potential, exosomes have been engineered in numerous ways for efficient delivery of active pharmaceutical ingredients to various target organs, tissues, and cells. In vivo administered exosomes are normally delivered to the liver, spleen, kidney, lung, and gastrointestinal tract and show rapid clearance from the blood circulation after systemic injection. The biodistribution and pharmacokinetics (PK) of exosomes can be modulated by engineering various factors such as cellular origin and membrane protein composition of exosomes. Recent advances accentuate the potential of targeted delivery of engineered exosomes even to the most challenging organs including the central nervous system. Major breakthroughs have been made related to various imaging techniques for monitoring in vivo biodistribution and PK of exosomes, as well as exosomal surface engineering technologies for inducing targetability. For inducing targeted delivery, therapeutic exosomes can be engineered to express various targeting moieties via direct modification methods such as chemically modifying exosomal surfaces with covalenton-covalent bonds, or via indirect modification methods by genetically engineering exosome-producing cells. In this review, we describe the current knowledge of biodistribution and PK of exosomes, factors determining the targetability and organotropism of exosomes, and imaging technologies to monitor in vivo administered exosomes. In addition, we highlight recent advances in strategies for inducing targeted delivery of exosomes to specific organs and cells.

PURPOSE: Nitric oxide(NO) is a very potent vasodilator synthesized from L-arginine by endothelial cells. We investigated whether urinary NO excretion was altered in various renal diseases in children and whether urinary NO excretion could be used in predicting pathologic causes and fibrosis in renal diseases in children. METHODS: We recruited 48 patients(32 minimal change nephrotic syndrome[MCNS] and 16 vesicoureteral reflux[VUR] patients) from the pediatric renal clinic in Korea University Guro Hospital. We measured the concentration of nitrite(NO2) and nitrate(NO3) by Griess reaction and that of creatinine(Cr) by Jaffe method in randomized spot urines. We then analyzed the urinary(NO2+NO3)/Cr ratios and compared the values between each patient group. Urinary (NO2+NO3)/Cr ratios were also evaluated according to the recurrence and the degree of proteinuria at sampling in the MCNS group and compared according to the presence of renal scarring and the grade of reflux in the VUR group. RESULTS: The ratios of urinary(NO2+NO3)/Cr were significantly increased in the VUR and MCNS groups, as compared to the control group. In the MCNS group, a higher level of urine (NO2+NO3)/Cr was observed in frequent relapse patients(relapse over four times within one year after first diagnosis) and the patients with severe proteinuria at sampling, respectively. The VUR group with renal scars also showed a higher level of urinary(NO2+NO3)/Cr compared to that without scars. CONCLUSIONS: In summary, NO may play a role in the pathogenesis of VUR and MCNS. NO also seems to affect proteinuria and renal scar formation.
Arginine ; Child ; Cicatrix ; Endothelial Cells ; Fibrosis ; Humans ; Korea ; Nitric Oxide* ; Proteinuria ; Recurrence