• Journal of Genetic Medicine
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• v.18 no.2
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• pp.110-116
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• 2021

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.1
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• pp.42-45
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• 2013

De Grouchy syndrome or Distal 18q- is a genetic condition caused by a deletion of genetic material within chromosome 18, and the deletion involves the distal section of 18q. It causes a wide range of medical and developmental concerns. Congenital orthopedic anomalies, cleft lip and palate are relatively common. People with distal 18q- are often small for their age. Most individuals with distal 18q- fall in the mild to moderate range of intellectual disability. Strabismus and nystagmus, changes in the optic nerve as well as colobomas are also fairly common. People with distal 18q- frequently have conductive and/or sensorineural hearing loss. At present, treatment for distal 18q- is only symptomatic. This article presents a case report: Caries treatment of a 4-year-old female patient with de Grouchy syndrome under general anesthesia. The special considerations of dental care, especially caries treatment for the patient with de Grouchy syndrome are discussed.

• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.711-715
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• 2002

The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region, spanning the interval from 18q22.2 to 18qter rather than a single critical region containing 18q. We experienced a case of 18q-syndrome in a male child. It was diagnosed by clinical and chromosomal study. He was a 15month-old infant who was admitted because of prolonged fever and vomiting. And he manifested a depressed midface, esotropia, anhydrosis, and developmental delay. Peripheral blood chromosome studies showed deleted chromosomal material at the distal part of the long arm of chromosome 18. He showed right hydronephroureterosis on IVP. So, he was diagnosed as 18q-syndrome with right hydronephroureterosis and anhydrosis. We report this syndrome with a review and related literature.

• Asian-Australasian Journal of Animal Sciences
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• v.26 no.8
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• pp.1181-1188
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• 2013

Two experiments were conducted to evaluate the effect of supplementing a corn-soybean meal-based diet with an enzyme complex containing amylase, protease and xylanase on the performance, intestinal health, apparent ileal digestibility of amino acids and nutrient digestibility of weaned pigs. In Exp. 1, 108 piglets weaned at 28 d of age were fed one of three diets containing 0 (control), 100, or 150 ppm enzyme complex for 4 wks, based on a two-phase feeding program namely 1 to 7 d (phase 1) and 8 to 28 d (phase 2). At the end of the experiment, six pigs from the control group and the group supplemented with 150 ppm enzyme complex were chosen to collect digesta samples from intestine to measure viscosity and pH in the stomach, ileum, and cecum, as well as volatile fatty acid concentrations and composition of the microflora in the cecum and colon. There were linear increases (p<0.01) in weight gain, gain: feed ratio and digestibility of gross energy with the increasing dose rate of enzyme supplementation during the whole experiment. Supplementation with enzyme complex increased the digesta viscosity in the stomach (p<0.05) and significantly increased (p<0.01) the concentrations of acetic, propionic and butyric acid in the cecum and colon. Enzyme supplementation also significantly increased the population of Lactobacilli (p<0.01) in the cecum and decreased the population of E. coli (p<0.05) in the colon. In Exp. 2, six crossbred barrows (initial body weight: $18.26{\pm}1.21$ kg), fitted with a simple T-cannula at the distal ileum, were assigned to three dietary treatments according to a replicated $3{\times}3$ Latin Square design. The experimental diets were the same as the diets used in phase 2 in Exp. 1. Apparent ileal digestibility of isoleucine (p<0.01), valine (p<0.05) and aspartic acid (p<0.05) linearly increased with the increasing dose rate of enzyme supplementation. In conclusion, supplementation of the diet with an enzyme complex containing amylase, protease and xylanase improved piglet performance. This is likely a result of improvement in nutrient digestibility, volatile fatty acid concentrations and bacteria ratio in the large intestine.

• Journal of Chest Surgery
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• v.35 no.9
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• pp.643-652
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• 2002

As the prevalence of coronay artery disease is increasing, the surgical treatment has been universalized and operative outcome has been improved. We analyzed the short and mid-term results of 292 CABGs performed in Kangdong Sacred Heart Hospital. Material and Method: From June 1994 to December 2001, 292 patients underwent coronary artery bypass grafting. There were 173 men and 119 women and their ages ranged from 39 to 84 years with a mean of $61.8{\pm}9.1$ years. We analyzed the preoperative risk factors, operative procedures and operative outcome. In addition, we analyzed the recurrence of symptoms, long-term mortality and complications via out-patient follow-up for discharged patients. Result: Preoperative clinical diagnoses were unstable angina in 137(46.9%), stable angina in 34(11.6%), acute myocardial infarction in 40(13.7%), non-Q myocardial infarction in 25(8.6%), postinfarction angina in 22(7.5%), cardiogenic shock in 30(10.3%) and PTCA failure in 4(1.4%) patients. Preoperative angiographic diagnoses were three-vessel disease in 157(53.8%), two-vessel disease in 35 (12.0%), one-vessel disease in 11(3.8%) and left main disease in 89(30.5%) patients. We used saphenous veins in 630, internal thoracic arteries in 257, radial arteries in 50, and right gastoepiploic arteries in 2 distal anastomoses. The mean number of distal anastomoses per patient was $3.2{\pm}1.0$ There were 18 concomitant procedures ; valve replacement in 8(2.7%), left main coronary artery angioplasty in 6(2.1%), patch closure of postinfarction ventricular septal defect(PMI-VSD) in 2(0.7%), replacement of ascending aorta in 1(0.3%) and coronary endarterectomy in 1(0.3%) patient. The mean ACC time was $96.6{\pm}35.3 $ minutes and the mean CPB time was $179.2{\pm}94.6$ minutes. Total early mortality was 8.6%, but it was 3.1% in elective operations. The most common cause of early mortality was low cardiac output syndrome in 6(2.1%) patients. The stastistically significant risk factors for early mortality were hypertension, old age($\geq$ 70 years), poor LV function(EF＜40%), congestive heart failure, preoperative intraaortic balloon pump, emergency operation and chronic renal failure. The most common complication was arrhythmia in 52(17.8%) patients. The mean follow-up period was $39.0{\pm}27.0$ months. Most patients were free of symptoms during follow-up. Fourteen patients(5.8 %) had recurrent symptoms and 7 patients(2.9%) died during follow-up period. Follow-up coronary angiography was performed in 13 patients with recurrent symptoms and they were managed by surgical and medical treatment according to the coronary angiographic result. Conclusion: The operative and late results of CABG in our hospital, was acceptable. However, There should be more refinement in operative technique and postoperative management to improve the results.