• Child Health Nursing Research
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• v.22 no.4
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• pp.247-256
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• 2016

Purpose: The purpose of the study was to identify and describe the caregiving difficulties that mothers of children with spina bifida experience from their own perspectives. Methods: A qualitative descriptive study was designed. Data were collected from five mini-focus group interviews and four individual interviews using open-ended questions. Nineteen mothers of children with mild spina bifida participated in the study during 2014-2015. Data were analyzed using qualitative content analysis to identify major difficulties perceived by the mothers. Results: Five domains were identified with 12 subdomains. "Daily routine continence management" describes difficulties arising in bladder and bowel management for the child with spina bifida. "Management of school life of child" deals with difficulties in relation to the school facilities, such as the toilets, as well as teachers and friends. "Relationship with family and neighbors" illustrates problems in relations with their spouse, normal children, relatives and neighbors. "Maintaining physical and psychological health" includes physical and psychological problems of the mothers. "Finance" describes economic burden that the mothers face in the management of child's illness. Conclusion: The findings from this study provide insight into the practical issues related to the management of chronic conditions of children with spina bifida from the mothers' perspectives.

• Journal of Korean Neurosurgical Society
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• v.44 no.4
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• pp.240-244
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• 2008

Objective : Sotos Syndrome is characterized by macrocephaly, overgrowth, and developmental delay, and more than 300 patients have been reported worldwide to date. The authors reviewed the clinical characteristics of 8 patients with Sotos Syndrome in Korea for a new understanding and treatment strategies. Methods : The medical records of a total of eight Korean children with Sotos Syndrome were reviewed. All patients underwent developmental checkup, lumbar punctures for measurement of intracranial pressure (ICP), brain and spine magnetic resonance imaging and computerized tomography. Results : All 8 patients showed macrocephaly and the characteristic craniofacial features of Sotos Syndrome. Other clinical characteristics shown were overgrowth (7/8), developmental delay (7/8), congenital heart defect (3/8), flat foot (8/8), scoliosis (4/8), spina bifida (8/8), hydrocephalus (4/8), cavum vergae (3/8), and increased subdural fluid collection (5/8). Mean ICP measured via lumbar puncture was $27.35{\pm}6.25\;cm$ $H_2O$ (range 20 to 36 cm $H_2O$). Two patients received ventriculo-peritoneal shunt, and 1 patient underwent subduro-peritoneal shunt with improvement. Spinal orthosis was applied to 4/5 patients with scoliosis and 4/8 children with flat foot were provided with foot orthosis. Conclusion : In this first Korean study of 8 Sotos Syndrome patients we demonstrated the presence of spina bifida and increased ICP, which had not been previously described. The authors therefore suggest that all patients with Sotos Syndrome should undergo examination for the presence of spina bifida, and that shunt procedures would improve development and alleviate clinical symptoms.

• Journal of Veterinary Clinics
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• v.26 no.5
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• pp.467-471
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• 2009

This report describes Neural Tube Defects (NTDs) with Abdominal Wall Defects (AWDs) on the sibling of Yorkshire terriers. The NTDs and AWDs are rare serious congenital defects. The NTDs are neurulation abnormality that results from to failed transformation of the neurual tube by the incomplete closure of the embryonic neural plate. These dysraphic states range form mild to severe according to developmental malformation that include fusion defects of skull (crania bifida; CB) and fusion defects of vertebrae (spina bifida; SB). The AWDs are genetic defects that results from to failed formation of abdominal wall and cavity. These dysraphic states are omphalocele and gastroschisis. The 12-month dam was delivered by caesarian section and 4 littermate had obvious malformations. One male dead stillbirth fetus (L1) was revealed the extruded abdominal viscera, omphalocele. One female fetus (L2) was died within 1 hour after birth with defects of abdominal muscle upper umbilicus, gastroschisis. 3rd fetus (L3) was died within 36 hours after parturition and revealed a copious dermal and vertebral defects on the midline thorax, upper SB asperta. 4th fetus (L4) is still growing well now at 6 months but at the 2 week age, appears hairy nevus on the frontal cranium and dorsal thoracic portion. The radiograph of L1 and L2 are shown decrease bony density of calvarium and L3 was shown defect of spinose processes of the T9-T13. On our knowledge, this is first report of the SB and CB in Yorkshire terrier. And also sibling of NTDs with AWDs that has not previously been reported in the dog.

• Journal of the Korean Society of Radiology
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• v.15 no.2
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• pp.131-137
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• 2021

The purpose of this study was to present the reference value of the intracranial translucency(IT) of the fetus using the mid sagittal plane of the post brain in the early pregnancy ultrasound screening test and to find the clinical significance. From August 2018 to February 2020, the IT of 1529 singleton fetus whose crown lump length were 40.6 mm to 78.3 mm in length among the mothers undergoing regular checkups at Hospital I were measured and analyzed retrospectively. As the crown lump length increased, the IT showed a 54.3% explanatory power and tended to increase(p<0.001). In addition, through frequency analysis, the standard value for the percentile of the IT by gestational weeks was calculated. As a result, it was possible to establish a standard value for Koreans with an IT, and it will be usefully applied as an auxiliary screening test for spina bifida in the evaluation of fetal post brain in early pregnancy.

• Journal of Korean Neurosurgical Society
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• v.54 no.4
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• pp.363-365
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• 2013

Split cord malformations (SCMs) usually present in childhood, and are rarely reported in adults. And also, a cervicothoracic SCM associated with tethered cord syndrome has very rarely been reported in the literature. We report a case of SCM associated with tethered cord and spina bifida in an adult. This report describes the case of a 34-year-old woman who presented for evaluation of neck pain, back pain, and intermittent paraparesis of several months duration. The MRI and CT showed a SCM at the cervicothoracic level and a fibrous septum at the thoracic level. She underwent surgery for the SCM and tethered cord syndrome, and was followed for 7 years. Patient presented complete recovery in the follow-up. The authors discuss this unusual lesion and describe the anatomical relationship of the level of cord duplication and fibrous septum.

• Journal of Veterinary Clinics
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• v.33 no.6
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• pp.389-391
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• 2016

A 10-month-old, intact female Shih-tzu dog with a pelvic limb ataxic gait, and urinary and fecal incontinence since birth, was examined by computed tomography and magnetic resonance imaging. The butterfly hemivertebra of the fourth lumbar vertebra, agenesis of the third sacral and coccygeal vertebrae, and spina bifida of the remaining sacral vertebra were observed on the computed tomography images. Magnetic resonance imaging revealed traction of the conus medullaris. The dog was diagnosed with sacrocaudal dysgenesis with presumptive tethered cord syndrome, and concurrent infectious cystitis was found by ultrasonography and urinary analysis. The Shih-tzu recovered from the cystitis, but still has the ataxic gait and urinary and fecal incontinence. This report summarizes the case of a dog with sacrocaudal dysgenesis that was identified by imaging diagnosis.

• BMB Reports
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• v.51 no.12
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• pp.636-641
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• 2018

DPP4 (dipeptidyl peptidase-4), a highly conserved transmembrane glycoprotein with an exo-peptidase activity, has been shown to contribute to glucose metabolism, immune regulation, signal transduction, and cell differentiation. Here, we show that DPP4 is involved in control of activin/nodal signaling in Xenopus early development. In support of this, gain of function of DPP4 augmented Smad2 phosphorylation as well as expression of target genes induced by activin or nodal signal. In addition, Dpp4 and Xnr1 showed synergistic effect on induction of ectopic dorsal body axis, when co-injected at suboptimal doses in early embryos. Conversely, saxagliptin, a DPP4 inhibitor repressed activin induction of Smad2 phosphorylation. Notably, overexpression of Dpp4 disrupted specification of dorsal body axis of embryo, leading to malformed phenotypes such as spina bifida and a shortened and dorsally bent axis. Together, these results suggest that DPP4 functions as a potentiator of activin/nodal signaling pathway.

• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.606-609
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• 2003

Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida occulta may be present, also ocular and dental abnormalities are reported. Radiologic findings are the osteopathy and striation of the long bone. We experienced a case of Goltz syndrome in a 9-year old female who was presented with right side hypotrophy, focal dermal hypoplasia, ocular(anidria, microcornea), dental(oligodontia, amelogenesis) and skeletal(syndactyly) abnormalities. Skin biopsy was performed and showed decreased expression of type I collagen gene with Northern blotting.

• Journal of Preventive Medicine and Public Health
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• v.7 no.2
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• pp.383-393
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• 1974

The importance of the health care for the miners not only concerns the productivity of the enterprises but also as a fundamental human right, it has to be secured and protected by the society and the government. The Korean coal miners began to find their works at overseas since 1963 when the Korean government selected and dispatched its miners to West Germany. As years go by, the demand and the supply of the coal miners, the program of the coal miners health care became the important tasks to be solved and the further studies and research were necessary to support these tasks achievement. The writers made a statistical analysis on health status of the 1,559 Korean applicants applying for the coal miners in West Germany during the year of 1972 and 1973 by the using of the data of physical examination which were directed by the Korea Overseas Development Cooperation. The standard of physical examination which was applied for coal miners applying the jobs in West Germany was authorized by the Government Office of Labor in 1967. The results are as following; 1. The applicants were from the various provinces throughout Korea; Gang Weon 50.2%, Jeon-Nam 16.8%, Chung-Nam 13.7%, Gyeong-Nam 10.5%, City of Seoul 5.4%, and others 3.7%. 2. The ages of the applicants were from 20 to 44. The age group of 25-29(36.3%) and of 30-34(55.2%) together occupied the 91.5 per cent of the total applicants. 3. Among the 1,559 applicants 52.1 per cent passed the physical examinations. The tendency were shown that as the age increased, the passing rate decreased, and the married applicnts had lower passing rates compared to the unmarried applicants. 4. The height of the applicants averaged $168.4{\pm}4.74(cm)$ and the weight averaged $61.3{\pm}5.65(kg)$. 5. The average vision of the left eye of the applicants was $0.92{\pm}0.23$ and the right eye was $0.91{\pm}0.30$. 6. The mean value of the systolic blood pressure of the applicants was $145{\pm}13(mmHg)$ and the diastolic blood pressure was $85{\pm}8(mmHg)$. 7. Fifteen hundred and fifty-nine applicants were taken chest X-ray and 17.2 per cent were found abonrmal. For each 1,000 applicants, 46 Pulmonary calcification and fibrosis, 45 chronic bronchitis, 27 pleural thickening and adhesion, 20 pulmonary tuburculosis, 11 anomalies of the rib, 10 pulmonary infiltration and 21 others diseases were found. 8. Lumber X-ray examination showed that 23.9 per cent (372 applicants) were found abnormal. For each 1,000 applicants, 77 osteoarthritis, 56 lumbarization, 15 fracture of vertebrae, 15 spondyloarthritis, 14 deformity of vertebrae, 13 spina bifida, 12 sacralization, 12 spondylolysis, and 5 others diseases were found. 9. In total, 47.9 per cent of 1,559 applicants failed the physical examinations, and the main causes for the failure were shown to be 7.1% of anomalies of spine, 6.3% of osteoarthritis, 4.7% of pulmonary calcification and fibrosis, 4.6% of chronic brochitis, 3.6% of hypertension (only), 3.4% of fracture of vertebrae. 3.1% of underweight(under 57.0kg), 2.0% of spondyloarthritis, 2.0% oe pulmonary tuberculosis, 1.7% of pleurisy, 1.0% of spina bifida, 1.5% of syphilis, 1.5% of color blindess, and 1.0% of underheight(under 160.0cm).