• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.109-114
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• 2016

Carbamoyl phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive urea cycle disorder which causes hyperammonemia. CPS1 is the first enzyme step in the urea cycle and almost patients present their symptoms during neonatal period. We report a case of CPS1 deficiency in a boy who developed symptoms including lethargy and seizure at 3 days of age. The ammonia level was up to $2,325{\mu}mol/L$, sodium benzoate (250 mg/kg/d) and high calories of both dextrose and lipid was promptly administered. Central access by experienced pediatric surgeon and emergent continuous hemodialysis by pediatric nephrologist was performed within 3 hours and ammonia was less than $100{\mu}mol/L$ at 5 days of age. Currently, he has showed excellent response to treatments including scavenging drugs and a low-protein diet. Despite of diffuse increasing signal intensity on cerebral white matters and basal ganglia on brain MRI, his development and weight gain were good at the last follow-up at 11 months of age. Molecular assay of the CPS1 gene demonstrated that patient had compound heterozygous for c.1529del ($p.Gly510Alafs^*5$) in exon 14 and c.3142-1G>C (IVS25(-1)G>C) in intron 25 and exon 26 boundary. The splicing mutation was novel mutation and inherited from patient's mother. Here, we report a neonatal lethal type CPS1 deficiency patient having novel mutation.

• Journal of Oral Medicine and Pain
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• v.38 no.3
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• pp.247-253
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• 2013

Renal osteodystrophy(RO) is characterized by skeletal changes in patients with renal disease and developed as a result of alterations in the metabolism of calcium, phosphate and secondary hyperparathyroidism. Bony changes in the craniofacial region include decreased bone density, radiolucent lesions(brown tumors), depletion of cortical bone and loss of lamina dura, but such changes rarely occur in the temporomandibular joint(TMJ). We report an uncommon case of bony changes and pain of both TMJs in a patient with RO. A 41-year-old man with RO came to our clinic due to TMJ pain and sounds. Occlusal change was also reported. Radiographs revealed degenerative changes of the both condyles. The patient had medical history of renal cancer therapy and hemodialysis. The patient was diagnosed with TMJ arthritis of RO and referred for systemic management through medication of calcium and vitamin D and parathyroidectomy. At 15-month follow-up, most of TMD symptoms disappeared and second radiographs revealed that bone density and cortical thickness of the mandible increased and the skeletal outline of the both condyles became relatively clear. As bony changes may begin in the early stage of the renal disease, dentists should be alert to detect the sign of the disease. In addition, it is important to differentiate TMJ arthritis of systemic cause because the treatment protocol is quite different.

• Journal of Chest Surgery
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• v.36 no.9
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• pp.646-650
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• 2003

Many surgical techniques for ischemic mitral regurgitation (IMR) have been used with their excellent results and advantages. Here, we report our simple posterior annuloplasty techniques using vascular graft strip with their early results. Material and Method: Twenty two patients (13 male) underwent the operations for IMR (excluding the papillary muscle rupture) from December 2001 to January 2003. Preoperative risk factors were low ejection fraction (<35％, n=9), hypertension (n=13), diabetes (n=9), and renal failure (Cr>2.5, n=4). The wide dissection beneath the both vena cavae and interatrial groove after bicaval cannulation enabled the easy exposure of mitral valve even in the small left atrium. After eight or nine interrupted sutures in posterior annulus for anchoring the 6 mm width vascular graft strip, symmetric (n=8) or asymmetric (n=14) annuloplasty were done. Combined surgeries were CABG (n=21), Dor procedures (n=3), tricuspid valve annuloplasty (n=1), Maze operation (n=1), and aorto-right subclavian artery bypass (n=1). Result: Except for one surgical mortality, all the patients were doing well and the mean grade of regurgitation was decreased from 2.95 to 0.88, however the ejection fraction had not changed significantly just before discharge. Post-operative valve function evaluated before discharge revealed no residual regurgitation in 8 (including 1 patient with mild stenosis due to over reduction), minimal in 11, mild in 2, and mild to moderate regurgitation in 1. One patient who had ischemic cardiomyopathy and renal failure died of the arrhythmia during the hemodialysis. Conclusion: These observations suggest that the annuloplasty with vascular graft strip could be a safe and cost effective techniques for ischemic mitral regurgitation. However, the long term evaluation for the mitral valve function should be defined for the final conclusion.

• Journal of Yeungnam Medical Science
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• v.14 no.2
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• pp.399-414
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• 1997

There are several factors concerning to anemia in chronic renal failure patients. But when rHuEPO is used, most of these factors can be overcome, and the levels of hemoglobin are increased. However, about 10% of the renal failure patients represent rHuEPO-resistant anemia eventhough high dosage of rHuEPO. For these cases, desferrioxamine can be applied to correct rHuEPO resistnacy, and many mechanism of DFO are arguing. So we are going to know whether DFO can be applied to correct anemia of the such patients, how long its effect can be continued. The seven pateients as experimental group(DFO+EPO) who represent refractoriness to rHuEPO and the other seven patients as control group(EPO) were included. Experimental group had lower than 9 g/dL of hemoglobin levels despite high rHuEPO dosage (more than 4000U/Wk) and showed normocytic normochromic anemia. There were no definitve causes of anemia such as hemorrhage or iron deficiency. Control group patients had similar characteristics in age, mean dialysis duration but showed adequate response to rHuEPO. DFO was administered to experimental group for 8 weeks along with rHuEPO(the rHuEPO individual mean dosage had been determined by mean dosage of the previous 6 months. Total mean dosage; 123.5 U/Kg/Wk). After 8 weeks of DFO administration, the hemoglobin and rHuEPO dosage levels were checked for 15 consecutive months. It should be noted that the patients determined their own rHuEPO dosage levels according to hemoglobin levels and economic status. In conrol group, rHuEPO was administered by the same method used in experimental group without DFO through the same period. Fifteen months of observation period after DFO trial were divided as Time I(7 months after DFO trial) and Time II(8 months after Time I). The results are as follows: Before DFO trial, mean hemoglobin level of experimental group was 7.8 g/dL, which is similar level(p>0.05) to control group(mean Hb; 8.2 g/dL). But in experimental group, significantly(p<0.05) higher dosages of rHuEPO(mean; 123.5 U/Kg/Wk) than control group (mean; 41.6 U/Kg/Wk) had been used. It means resistancy to rHuEPO of experimental group. But after DFO trial, the hemoglobin levels of the experimental group were increased significantly(p<0.05), and these effect were continued to Time II.(Time I; mean 8.6g/dL, Time II; mean 8.6g/dL) The effects of DFO to hemoglobin were continued for 15 months after DFO trial with similar degree through Time I, Time II. Also, rHuEPO dosages used in the experimental group were decreased to similar levels of the control group after DFO trial and these effect were also continued for 15 months(Time I; mean 48.1 U/Kg/Wk. Time II; mean 51.8 U/Kg/Wk). In the same period, hemoglobin levels and rHuEPO dosages used in the control group were not changed significantly. Notibly, hemoglobin increment and rHuEPO usage decrement in experimental group were showed maxilly in the 1st month after DFO trial. That is, after the use of DFO, erythopoiesis was enhanced with a reduced rHuEPO dosage. So we think rHuEPO reisistancy can be overcome by DFO therapy. In conclusion, the DFO can improve the anemia caused by chronic renal failure at least over 1 year, and hence, can reduce the dosage of rHuEPO for anemia correction. Additional studies in order to determine the mechanism of DFO on erythropoiesis and careful attention to potential side effects of DFO will be needed.

• Proceedings of the KOSOMBE Conference
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• v.1992 no.05
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• pp.27-47
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• 1992

Engineers have developed new instruments that aid in diagnosis and therapy Ultrasonic imaging has provided a nondamaging method of imaging internal organs. A complex transducer emits ultrasonic waves at many angles and reconstructs a map of internal anatomy and also velocities of blood in vessels. Fast computed tomography permits reconstruction of the 3-dimensional anatomy and perfusion of the heart at 20-Hz rates. Positron emission tomography uses certain isotopes that produce positrons that react with electrons to simultaneously emit two gamma rays in opposite directions. It locates the region of origin by using a ring of discrete scintillation detectors, each in electronic coincidence with an opposing detector. In magnetic resonance imaging, the patient is placed in a very strong magnetic field. The precessing of the hydrogen atoms is perturbed by an interrogating field to yield two-dimensional images of soft tissue having exceptional clarity. As an alternative to radiology image processing, film archiving, and retrieval, picture archiving and communication systems (PACS) are being implemented. Images from computed radiography, magnetic resonance imaging (MRI), nuclear medicine, and ultrasound are digitized, transmitted, and stored in computers for retrieval at distributed work stations. In electrical impedance tomography, electrodes are placed around the thorax. 50-kHz current is injected between two electrodes and voltages are measured on all other electrodes. A computer processes the data to yield an image of the resistivity of a 2-dimensional slice of the thorax. During fetal monitoring, a corkscrew electrode is screwed into the fetal scalp to measure the fetal electrocardiogram. Correlations with uterine contractions yield information on the status of the fetus during delivery To measure cardiac output by thermodilution, cold saline is injected into the right atrium. A thermistor in the right pulmonary artery yields temperature measurements, from which we can calculate cardiac output. In impedance cardiography, we measure the changes in electrical impedance as the heart ejects blood into the arteries. Motion artifacts are large, so signal averaging is useful during monitoring. An intraarterial blood gas monitoring system permits monitoring in real time. Light is sent down optical fibers inserted into the radial artery, where it is absorbed by dyes, which reemit the light at a different wavelength. The emitted light travels up optical fibers where an external instrument determines O2, CO2, and pH. Therapeutic devices include the electrosurgical unit. A high-frequency electric arc is drawn between the knife and the tissue. The arc cuts and the heat coagulates, thus preventing blood loss. Hyperthermia has demonstrated antitumor effects in patients in whom all conventional modes of therapy have failed. Methods of raising tumor temperature include focused ultrasound, radio-frequency power through needles, or microwaves. When the heart stops pumping, we use the defibrillator to restore normal pumping. A brief, high-current pulse through the heart synchronizes all cardiac fibers to restore normal rhythm. When the cardiac rhythm is too slow, we implant the cardiac pacemaker. An electrode within the heart stimulates the cardiac muscle to contract at the normal rate. When the cardiac valves are narrowed or leak, we implant an artificial valve. Silicone rubber and Teflon are used for biocompatibility. Artificial hearts powered by pneumatic hoses have been implanted in humans. However, the quality of life gradually degrades, and death ensues. When kidney stones develop, lithotripsy is used. A spark creates a pressure wave, which is focused on the stone and fragments it. The pieces pass out normally. When kidneys fail, the blood is cleansed during hemodialysis. Urea passes through a porous membrane to a dialysate bath to lower its concentration in the blood. The blind are able to read by scanning the Optacon with their fingertips. A camera scans letters and converts them to an array of vibrating pins. The deaf are able to hear using a cochlear implant. A microphone detects sound and divides it into frequency bands. 22 electrodes within the cochlea stimulate the acoustic the acoustic nerve to provide sound patterns. For those who have lost muscle function in the limbs, researchers are implanting electrodes to stimulate the muscle. Sensors in the legs and arms feed back signals to a computer that coordinates the stimulators to provide limb motion. For those with high spinal cord injury, a puff and sip switch can control a computer and permit the disabled person operate the computer and communicate with the outside world.

• Journal of Yeungnam Medical Science
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• v.8 no.2
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• pp.128-137
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• 1991

Peritoneal dialysis has been widely considered to be the dialytic treatment of choice for acute renal failure in infants and young children, because the technique is simple, safe and easily adapted for these patients. Also peritoneal dialysis in infants might have more effective ultrafiltration and clearance than in adults. In certain circumstances associated with hemodynamic instability, ordinary volume peritoneal dialysis(30-50 ml/kg body weight per exchange) or hemodialysis may not be suitable unfortunately. But frequent cycled, low volume, high concentration peritoneal dialysis may be more available to manage the hemodynamically untable acute renal failure of newborns and infants. Seven infants underwent peritoneal dialysis for hemodynamically unstable acute renal failure with low exchange volume($14.2{\pm}4.2ml/kg$), short exchange time(30 to 45 minutes) and hypertonic glucose solution(4.25% dextrose). Age was $1.9{\pm}1.3$ months and body weight was $4.6{\pm}1.6kg $. Etiology of acute renal failure was secondary to sepsis with or without shock(5 cases) and postcardiac operation(2 cases). Catheter was inserted percutaneously with pigtail catheter or Tenkhoff catheter by Seldinger method. Dialysate was commercially obtained Peritosol which contained sodium, chloride, potassium, magnesium, lactate and calcium. Net ultrafiltration(ml/min) showed no difference between low volume dialysis and control($0.27{\pm}0.09$ versus $0.29{\pm}0.09$) Blood BUN decreased from $95.7{\pm}37.5$ to $75.7{\pm}25.9mg/dl$ and blood pH increased from $7.122{\pm}0.048$ to $7.326{\pm}0.063$ after 24 hours of peritoneal dialysis. We experienced hyperglycemia which were controlled by insulin(2 episodes), leakage at the exit site(2), mild hyponatremia(1) and Escherichia coli peritonitis(1). Two children of low volume dialysis died despite the treatment. In our experience, low volume and high concentration peritoneal dialysis with frequent exchange may have sufficient ultrafiltration and clearance without significant complications in the certain risked acute renal failure of infants.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1981.05a
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• pp.7-8
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• 1981

Authors observed clinically 34 cases of the corrosive esophagitis caused by various corrosive agents at Kyung Hee University Hospital from Aug. 1978 to Dec. 1980. The results obtained were as follows; 1. Among the 34 patients, male was 19 (55.9%) and female 15(44.1%). Most frequently found age was 3rd decade. 2. 18 cases(52.9%) came to the hospital within 24 hours after ingestion of the agents, and 13 cases(38.2%) within 2 to 7 days. 3. Seasonal distribution showed most frequently in spring(35.3%). 4. The moment of the accident was suicidal attempt in 27 cases(79.4%) and misdrinking in 7 cases(20.6%). 5. Acetic acid was a most commonly used agent, showing 23 cases(67.6%), lye and insecticides were next in order. 6. Common chief complaints were swallowing difficulty and sore throat. 7. The average hospital days was 14.8 days. 8. Esophagogram was performed between 3 to 7 days after ingestion in 13 cases(38.2 %), findings were constrictions on the 1st narrowing portion in 4 cases(30.8%) and within normal limits in 3 cases(23.1%). 9. Esophagoscopy was performed in 31 cases(91.2%) between 2 to 7 days after ingestion, which revealed edema and coating on entrance of the esophagus in 9 cases (29.0 %). Diffuse edema on entire length of the esophagus and within normal limits were next in order. 10. Laboratory results were as follows: Anemia was in 1 cases(2.9%), leukocytosis. in 21 cases (61.8%), increase ESR in 9 cases (26.5%), markedly increased BUN and creatinine in 3 cases (8.8%), and hypokalemia in 1 cases(2.9%). Proteinuria in 10 cases(29.4%) hematuria in 4 cases(l1.8%), and coca cola urine in 3 cases (8.8%). 11. Associated diseases were 3 cases(8.8%) of cancer, 1 cases (2.9%) of diabetes mellitus, and 1 cases(2.9%) of manic depressive illness. 12. Various treatment was given: Esophageal and gastric washing in 23 cases(67.6%) for the emergent treatment, antibiotics in 32 cases(94.1%), steroids in 30 cases(88.2%), bougienation in 5 cases(14.7%), hemodialysis in 1 case(2.9%), and partial esophagectomy with gastrostomy and gastroileal anastomosis in 1 cases(2.9%). 13. Serious complications were observed in 9 cases (26.5%), consisted of 6 cases(17.6%) of esophageal stricture, 1 cases(2.9%), of aute renal failure, 1 cases (2.9%) of pneu momediastinum with pneumonia, and 1 cases (2.9%) of pneumonia.