• 대한장애인치과학회지
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• 제13권2호
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• pp.91-94
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• 2017

본 증례는 다발성 과백악질증 및 영구치의 맹출 지연을 나타내는 뇌성마비 병력 환자에 대해 보고이다. 현재 환자는 큰 불편감 없이 유구치를 유지하고 있으며 방사선 사진 검사를 통해 매복 영구치의 낭종 발생 여부를 확인하고 잔존 유치를 최대한 보존해야 한다.

• 치과방사선
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• 제29권2호
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• pp.507-521
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• 1999

Osteopetrosis is an uncommon hereditary bone disorder whose prominent radiologic feature characterized by increased bone density. The authors reported a 7-year-old male patient who referred from local dental clinic for dental problems such as early exfoliation of deciduous teeth(#54,73,83) and delayed eruption of permanent teeth(#31.41.36.46). The patient appeared as a poorly developed. Dental X-ray films showed early exfoliation of deciduous teeth, delayed eruption of permanent teeth, and rampant caries. Lateral view of skull demonstrated increased opacity of calvarium, facial bones, and skull base. Generally the skeletal density is greatly increased throughout all bones. Facial CT showed poor development of paranasal sinuses and mastoid air cells. No hematopoietic and neurologic complications such as anemia, thrombocytopenia, blindness and deafness were found. Also mental retardation was not found. The final diagnosis of this case was a osteopetrosis tarda. Sometimes patient with osteopetrosis tarda may be developed dental problems prior to severe systemic symptoms. The dentist can be the first clinician to see the patient. It is very important for the dentist to have the knowledge of the osteopetrosis and to care the patient's dental problems to prevent complication such as osteomyelitis of jaws.

• 환경생물
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• 제22권2호
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• pp.321-328
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• 2004

The effects of Di (2-ethylhexyl) phthalate (DEHP) on the fourth instar larvae of Chironomus riparius were tested in the laboratory. Employing a waterreplacement exposure setup, chironomids were subjected to various concentrations. In the most treatments mortality reached a statistically significant difference from the control conditions. As DEHP concentrations were increased, the rates of emerged adults decreased. Sex ratio was unaffected with little deviation from a 1:1 relationship (except in 1 and $30\mu{g}\;L^{-1})$. The developmental stages was delayed at low concentration (0.3 and $1\mu{g}\;L^{-1})$. Generally the emergent period was different between males and females, and the first emergent day of males was faster than females. The body shape of female adults was larger than males. Differences between males and females were found in body volume, body length and body width. In addition, the body volume showed the significant difference between controls and treatments, and those especially well observed females.

• Clinical and Experimental Pediatrics
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• 제57권11호
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• pp.465-471
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• 2014

Inflammatory bowel disease (IBD) is a chronic relapsing disorder of unknown etiology, which is believed to be multifactorial. Recently, the incidence of pediatric IBD has steeply increased in Korea since 2000. Poorly controlled disease activity can result in complications such as intestinal fistulae, abscess, and stricture, as well as growth retardation and delayed puberty in children. Because of a lack of confirmative tests, various diagnostic modalities must be used to diagnose IBD. Onset age, location, behavior, and activity are important in selecting treatments. Monogenic IBD must be excluded among infantile and refractory very-early-onset IBD. Early aggressive therapy using biologics has recently been proposed for peripubertal children to prevent growth failure and malnutrition.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제2권1호
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• pp.123-129
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• 1999

저자들은 미숙아로 분만되어 불충분한 아연 공급이 원인이 되어 일과성 증상성 아연 결핍증을 나타낸 2례와 만삭아로 분만되어 만성 설사후 일과성 증상성 아연 결핍증을 나타낸 1례를 문헌고찰과 함께 보고하는 바이다.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제44권4호
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• pp.198-203
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• 2018

Dyke-Davidoff-Masson syndrome is a non-inherited rare condition that presents during childhood and is characterized by seizures, hemiplegia, mental retardation, cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses. The present article highlights a case of a 12-year-old male child with additional clinical findings of $caf{\acute{e}}$-au-late pigmentation and ocular lipodermoid. This is the first case report of DykeDavidoff-Masson syndrome to describe oral manifestations, such as unilateral delayed eruption of teeth, hypoplasia, and taurodontism, which could be unique and characteristic of this condition. Oral health care providers and physicians should be aware of these oral observations as dental referrals could warrant early dental prophylactic care and can be useful in diagnosing the possible time of injury and type of Dyke-Davidoff-Masson syndrome.

• 약학회지
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• 제28권4호
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• pp.223-229
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• 1984

Microcapsules of indomethacin were prepared by the complex coacervation technique using gelatin-gum arabic as the wall-forming material. The effects of varying drug-to-matrix ratios and formalization time, and hydroxy propyl cellulose (HPC) added on the release of drug from microcapsules were studied. As the amount of wall-forming material increased, the drug content in the microcapsules decreased and the release of drug from microcapsules was retarded. The drug content was lower in the HPC added microcapsules than that in the microcapsules was retarded. The drug content was lower in the HPC added microcapsules than that in the microcapsules without HPC and the microcapsules with 1:4 drug-to-matrix ratio showed the slowest release. The release rate of the drug from microcapsules with 1:2 drug-to-matrix was delayed according to the increase of formalization time and the microcapsules formalized for 24hr showed ratio the most retardation.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.97-101
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• 2020

The combination of central nervous system abnormalities and renal impairment is a notable characteristic of Galloway-Mowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many subtypes exist having various phenotypes and genotypes, and many genetic causes are still being identified. An 18-month-old boy first visited our clinic for seizure, delayed development, and microcephaly. During follow-up visits he developed proteinuria and nephrotic syndrome at the age of 6. Nephrotic syndrome became refractory to treatment. These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). This is the first case in Korea of GAMOS involving the WDR4 gene.

• Journal of Interdisciplinary Genomics
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• 제5권1호
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• Journal of Yeungnam Medical Science
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• 제8권2호
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• pp.24-34
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• 1991

1986년 1월부터 1988년 6월까지 30개월동안 '말이 늦다(언어발달지연)'는 것을 주소로 본원 소아과에 내원한 환아 중 언어발달지연의 진단기준에 부합하였던 52명의 아동을 대상으로 관찰하여 다음과 같은 성적을 얻었다. 1. 환아의 초진시 연령은 2-2.9세군이 16례 (30.8%), 3-3.9세군이 11례(21.2%)로 전체 환아의 반수 이상이 2-3.9세 사이에 내원했다. 2. 성별분포로는 남아가 39례, 여아가 13례로서 3:1의 비로 남아에서 많았다. 3. 원인은 지능발달지연이 28례(53.8%)로 가장 많았으며 그 외 발달성 언어장애가 12례(23.1%), 자폐증이 7례(13.5%)의 순으로 많았다. 4. 동반된 질환들로는 발음장애가 9례(17.3%)로 가장 많았고 사시가 5례(9.6%), 경련성질환이 4례(7.7%)에서 있었다. 5. 치료는 특수교육이 23례(44.2%), 언어치료가 12례(23.1%), 정신과적 자문이 7례(13.5%)에서 행해졌다.