• Biomolecules & Therapeutics
• /
• v.22 no.2
• /
• pp.83-92
• /
• 2014

Fatty acids (FAs) are highly diverse in terms of carbon (C) chain-length and number of double bonds. FAs with C>20 are called very long-chain fatty acids (VLCFAs). VLCFAs are found not only as constituents of cellular lipids such as sphingolipids and glycerophospholipids but also as precursors of lipid mediators. Our understanding on the function of VLCFAs is growing in parallel with the identification of enzymes involved in VLCFA synthesis or degradation. A variety of inherited diseases, such as ichthyosis, macular degeneration, myopathy, mental retardation, and demyelination, are caused by mutations in the genes encoding VLCFA metabolizing enzymes. In this review, we describe mammalian VLCFAs by highlighting their tissue distribution and metabolic pathways, and we discuss responsible genes and enzymes with reference to their roles in pathophysiology.

• Journal of Chest Surgery
• /
• v.25 no.9
• /
• pp.925-929
• /
• 1992

Supravalvular aortic stenosis is relatively uncommon form of congenital heart disease and the most important lesion of this anomaly is various narrowing of the aortic lumen just above the sinus of Valsalva. We experienced a case of hourglass type of supravalvular aortic stenosis involving lcm from length from lcm above the sinus of Valsalva. The patient was associated with mental retardation, peculiar facies and dental anomaly. The diagnosis was confirmed preoperatively by retrograde left heart catheterization and left ventriculography. An incision was made in the ascending aorta and into the right coronary and noncornary sinus. Care was taken to protect the right coronary artery. A Y-shaped patch of Dacron was made to enlarge the stenotic portion of aorta. Postoperative pressure gradient between the aorta and left ventricle markedly reduced 36 mmHg in comparison with preoperative pressure gradient 150mmHg. The boy was discharged without any event.

• Clinical and Experimental Pediatrics
• /
• v.53 no.6
• /
• pp.718-721
• /
• 2010

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the $CREB$ $binding$ $protein$ ($CREBBP$) have been found, which are understood to be associated with cell growth and proliferation. Here, we describe a typical RTS patient with Arnold-Chiari malformation. A mutation in the CREBBP gene, c.4944_4945insC, was identified by mutational analysis.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.2 no.1
• /
• pp.31-38
• /
• 2006

90 handicapped patients with dental problem treated under outpatient general anesthesia at one day operation room of kyungpook National University Hospital during 2000-2005 were analyzed. Following are the conclusions. 1. For those 90patients treated under general anesthesia, 62(68.9%)patients had autism or mental retardation. 2. The most difficult work for the preparation of general anesthesia was preoperative examination(53.3%). 3. The parent's satisfaction level after treatment under general anesthesia was high(75.6%). 4. 36(40%) of the patients responded to periodic recall check till now.

• Journal of Chest Surgery
• /
• v.28 no.4
• /
• pp.391-394
• /
• 1995

We expericenced one case of surgical treatment of congenital supravalvular aortic stenosis associated with Willjams` syndrome using Dory procedure. A 22 years-old male patient was admitted to the cardiology department due to dyspnea,easy fatigue,dizziness. On physical examination,systolic murmur was audibled at fight second parasternal intercostal space and his general appearance was elfin face and mental retardation was noted. Cardiac catheterization was revealed as a supravalvular aortic stenosis and pressure gradient was 45mmHg between the left ventricle and the aorta. Successful surgical treatment was accomplished with Inverted Y procedu~:e using Dacron patch[Doty procedure . Postoperative course was uneventful and he was discharged in good condition.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.34 no.4
• /
• pp.666-671
• /
• 2007

Williams syndrome is a rare congenital disorder characterized by multiple anomalies involving the cardiovascular system, connective tissue, and the central nervous system resulting in mental retardation, distinctive facial features, and cardiovascular disease. It is also known to present typical oral manifestation including dental malformations, agenesis of teeth, and malocclusion. Impaction of a permanent tooth due to its deviant eruption path was observed in this case. The aim of this article is to report oral manifestation of a girl with Williams syndrome and the following dental treatment procedure.

• Journal of Genetic Medicine
• /
• v.5 no.2
• /
• pp.136-138
• /
• 2008

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations which include dysplastic ears, hearing loss, preaxial polydactyly and/or triphalangeal thumbs, imperforate anus, renal anomalies, congenital heart defects, and mental retardation. However, hypothyroidism is not a common feature of TBS. There have been only three reported cases of TBS associated with hypothyroidism. We report the first case of TBS associated with hypothyroidism in Korea.

• Clinical and Experimental Pediatrics
• /
• v.55 no.3
• /
• pp.107-110
• /
• 2012

Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

• Journal of Genetic Medicine
• /
• v.10 no.2
• /
• pp.117-119
• /
• 2013

Double trisomy mosaicism of two different cell lines is extremely rare, particularly those that involve constitutional trisomy 8. We report a case of 47,XXX/47,XX,+8 in a 12-year-old female presenting with several skeletal anomalies. She exhibited distinct phenotypic features such as tall stature, deviation of the left middle finger, webbing of both thumbs and flexion deformities of the both third and fifth distal intermediate phalanges. A mild impulse-control disorder was observed, without mental retardation. Chromosomal and fluorescence in situ hybridization analysis demonstrated double trisomy mosaicism both on lymphocytes and buccal epithelial cells.

• Journal of Life Science
• /
• v.9 no.6
• /
• pp.704-708
• /
• 1999

This research was carried out for evaluating diagnostic value of antibody test in Fragile X syndrome. In antibody test of control individuals and carriers with a premutation, FMRP were detected in the lymphocytes, whereas the lymphocytes of male Fragile X syndrome patients were devoid of FMRP. Five Fragile X syndrome male patient, two Fragile X syndrome female patients, three carriers were diagnosed by southern blot. Five boys who were diagnosed as the patients by antibody test were turned out full mutation and having multiple smear beside normal single band. However, fragile site of X chromosome was not expressed in Fragile X syndrome patients by chromosome analysis. These results showed that antibody test was a fast and simple method, but the diagnostic power was "perpect" for males, whereas the results were less specific for females.r females.