• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.92-95
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• 2017

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

• Journal of Chest Surgery
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• v.32 no.7
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• pp.628-636
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• 1999

Background: Recent advances in understanding the anatomy of the complete atrioventricular septal defect(including right-dominant unbalanced atrioventricular septal defect) have led to alternative methods of repairing these defects. Material and Method: From May 1997 to July 1998, 8 consecutive infants(age range, 2 to 28 months, mean body weight 6.0$\pm$2.2 kg) received a single-stage intracardiac repair of the complete atrioventricular septal defect with modified surgical methods. Depending on the specific anatomic structure, the procedure was simplified in 3 patients by a direct closure of the ventricular element of the defect(Group I). Two patients judged unsuitable for direct closure due to a potential left ventricular outflow tract obstruction had received a standard two-patch repair(Group II). The remaining 3 patients with right-dominant unbalanced complete atrioventricular septal defect underwent biventricular repair; to enlarge the orifice of the left atrioventricular valve, the ventricular septal patch was placed slightly more to the right of the ventricular crest, a left sided bridging leaflet was augmented with an autologous pericardial patch, and the leaflet was repaired with a double- orifice(Group III . Result: In all 8 patients, the postoperative echocardiography demonstrated good hemodynamics. Seven patients were weaned from the ventilators after a mean 3$\pm$1 days, and 1 patient was weaned after 24 days due to a reoperation and emphysematous lung problem. A reoperation was performed in 1 patient for progressive left atrioventricular valve regurgitation due to leaflet tearing. There were no early and late mortalities. At the time of the latest review, judging from the echocardiographic criteria, left atrioventricular valve stenosis was mild in 1 patient(mean pressure gradient 6.5 mmHg, 13.5%), left atrioventricular valve regurgitation was absent or grade I in 7 patients(87.5%). The right atrioventricular valve regurgitation was absent or grade I in all 8 patients(100%). Conclusion: Infants with complete atrioventricular septal defect were treated with either a simplified approach with direct closure of the ventricular element of the defect or a modified surgical technique for a right-dominant unbalanced atrioventricular septal defect, depending on the anatomic structure. The results were no operative mortalities and low morbidity.

• Childhood Kidney Diseases
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• v.14 no.2
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• pp.203-209
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• 2010

Purpose : It has been a common medical practice to use prophylactic antibiotics to prevent recurrent urinary tract infections (UTI) in high risk situations such as urinary tract obstruction, vesicoureteral reflux, neurogenic bladder, or urinary stones. But sometimes, we meet difficult situation of breakthrough infections (BI) which might cause new or progressive renal scarring. The clinical characteristics of children contracting breakthrough UTI experienced in a single center were studied. Methods : The study was done retrospectively through medical records of 150 pediatric patients who had been cared in pediatric and urologic clinics of Pusan National University Hospital from Jan. 2001 till June 2006 and had prophylactic antibiotics to prevent recurrent UTI. Results : The starting age of prophylactic antibiotics of 150 patient was 1-76 months, and median age was 5 months. The BI developed 61 times in 43 patients (28.7%), 1.5 times per 100 patient-months. The BI occurred more frequently in patients with higher grade of VUR, and in the cases with abnormal DMSA scan. Co-trimoxazole was more effective than 2nd and 3rd generation cephalosporins to prevent UTI. The distribution of causative organisms was more diverse than usual UTI. The causative organisms were sensitive to the antibiotics used for prophylaxis in 29.5%, and resistant in 59.1%. After experience of BI, 40 percents of patients went to the surgical treatment including endoscopic injection of Deflux, 35% to new antibiotics for prophylaxis, 26% remain on the same antibiotics as the previous one. Conclusion : Based on our study results, preexisting renal scar might be one of the factors which should be considered in favor of early surgical interventions of VUR. Poor compliance and wrong selection of antibiotics such as cephalosporins are important underlying causes of breakthrough UTIs.

• Journal of Life Science
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• v.31 no.10
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• pp.913-921
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• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

• The Journal of Korean Society for Radiation Therapy
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• v.26 no.2
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• pp.313-320
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• 2014

Purpose : The purpose of the study is to evaluate the efficiency of Coaxial MLC VMAT plan (Using $273^{\circ}$ and $350^{\circ}$ collimator angle) That the leaf motion direction aligned with axis of OAR (Organ at risk, It means spinal cord or cauda equine in this study.) compare to Universal MLC VMAT plan (using $30^{\circ}$ and $330^{\circ}$ collimator angle) for spine SBRT. Materials and Methods : The 10 cases of spine SBRT that treated with VMAT planned by Coaxial MLC and Varian TBX were enrolled. Those cases were planned by Eclipse (Ver. 10.0.42, Varian, USA), PRO3 (Progressive Resolution Optimizer 10.0.28) and AAA (Anisotropic Analytic Algorithm Ver. 10.0.28) with coplanar $360^{\circ}$ arcs and 10MV FFF (Flattening filter free). Each arc has $273^{\circ}$ and $350^{\circ}$ collimator angle, respectively. The Universal MLC VMAT plans are based on existing treatment plans. Those plans have the same parameters of existing treatment plans but collimator angle. To minimize the dose difference that shows up randomly on optimizing, all plans were optimized and calculated twice respectively. The calculation grid is 0.2 cm and all plans were normalized to the target V100%=90%. The indexes of evaluation are V10Gy, D0.03cc, Dmean of OAR (Organ at risk, It means spinal cord or cauda equine in this study.), H.I (Homogeneity index) of the target and total MU. All Coaxial VMAT plans were verified by gamma test with Mapcheck2 (Sun Nuclear Co., USA), Mapphan (Sun Nuclear Co., USA) and SNC patient (Sun Nuclear Co., USA Ver 6.1.2.18513). Results : The difference between the coaxial and the universal VMAT plans are follow. The coaxial VMAT plan is better in the V10Gy of OAR, Up to 4.1%, at least 0.4%, the average difference was 1.9% and In the D0.03cc of OAR, Up to 83.6 cGy, at least 2.2 cGy, the average difference was 33.3 cGy. In Dmean, Up to 34.8 cGy, at least -13.0 cGy, the average difference was 9.6 cGy that say the coaxial VMAT plans are better except few cases. H.I difference Up to 0.04, at least 0.01, the average difference was 0.02 and the difference of average total MU is 74.1 MU. The coaxial MLC VMAT plan is average 74.1 MU lesser then another. All IMRT verification gamma test results for the coaxial MLC VMAT plan passed over 90.0% at 1mm / 2%. Conclusion : Coaxial MLC VMAT treatment plan appeared to be favorable in most cases than the Universal MLC VMAT treatment planning. It is efficient in lowering the dose of the OAR V10Gy especially. As a result, the Coaxial MLC VMAT plan could be better than the Universal MLC VMAT plan in same MU.

• Journal of Korean Neurosurgical Society
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• v.30 no.11
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• pp.1314-1319
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• 2001

Objects : Because of the nonspecific nature of symptoms in tuberculous spondylitis, a delay in the diagnosis can result in progressive neurologic deficits. The authors evaluate the clinical and the radiological results of the 10 cases of surgically treated tuberculous spondylitis. Clinical materials & Methods : We retrospectively analyzed the medical records of 10 patients with tuberculous spondylitis who were treated between February 1996 and March 2000. Six patients were female, and four were male. Mean age was 43 years old, and mean follow-up period was 20.5 months. All patients were treated with 12 months of antituberculous medication postoperatively, and were followed by complete blood count, ESR, spine X-ray and MRI. Results : The lumbar spine was involved in 5 patients, the thoracic in 4, and the thoracolumbar in one. The infected vertebral bodies were 2.8 in average. The associated lesions were pulmonary tuberculosis in 3 cases, and renal tuberculosis in one. Five patients were treated by anterior debridement and fusion with bone graft using anterior instrumentation, 2 with anterior debridement and fusion with bone graft(Hong Kong procedure only), 1 with Hong Kong procedure with posterior spinal instrumentation, and 2 were managed with posterior debridement and posterior spinal instrumentation. All patients improved after operation, and the average kyphotic angle decreased postoperatively. Postoperatively, one patient had a fistula at the operative site. Conclusion : The debridement and minimal level fusion of motion segment with instrument fixation is one of surgical option for tuberculous spondyltis to preserve the spine motion segment as much as possible. Spine instability and kyphosis were prevented by anterior and posterior spinal instrumentation. But, large number of cases and longer period follow-up study in future will be needed to confirm the long term results.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.9
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• pp.4357-4361
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• 2012

Objective: The guidelines on indications for prophylactic use of Bacille Calmette-Gu$\acute{e}$rin (BCG) against non-muscle-invasive bladder cancer (NMIBC) have changed over the years. In order to assess the impact on outcome, the present retrospective comparison of BCG efficacy by time period with Japanese patients was conducted. Patients and Methods: A total of 146 cases of NMIBC treated with BCG since February 1985 were retrospectively evaluated. All patients received 80 mg of BCG (Tokyo 172 strain) six to eight times a week for prophylactic use. Comparison was made among three historical groups (Group A: 1980's, 39 cases; Group B: 1990's, 61 cases; Group C: 2000's, 46 cases). Results: In total, recurrence was seen in 55 of the 146 cases (37.7%), and progression in 14 (9.6%), 1 patient dying of cancer. These overall results were similar to those outlined in previous reports. However, the outcomes of this time-period-based analysis indicated a tendency for a shorter time to recurrence in patients after 2000, although a log-rank test showed no significance (P=0.229). Seven of the cases featuring progression (i.e., half of all such cases) were among the 46 Group C patients (15.2%). Excluding these progressive cases, there was no significant difference among the remaining 132 patients in the three groups. Conclusion: This study results revealed a tendency for a lower non-recurrence rate after 2000 in our series. This could stem from a number of factors, including changes in BCG indication criteria and the evolution of histopathological diagnostic criteria.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.85-89
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• 2019

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.2
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• pp.86-90
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• 2017

Hydrocephalus is characterized by accumulation of cerebrospinal fluid in the ventricles of the brain causing progressive ventricular dilatation. Accumulation of cerebrospinal fluid typically causes increased pressure inside the skull, this may result in headaches, vomiting, nausea, seizures, sleepiness and mental impairment. Patients with hydrocephalus may have dental manifestations such as changes in the occlusion and greater accumulation of plaque. The prevalence of dental caries is high due to the difficulty of oral care. The purpose of this case report is to describe the dental care for an uncooperative child with hydrocephalus under general anesthesia.

• Tuberculosis and Respiratory Diseases
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• v.62 no.3
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• pp.237-240
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• 2007

Pulmonary choriocarcinoma is a very rare tumor in men. Herrein, the case of a pulmonary choriocarcinoma in 39-year-old man, and whether it had a primary nature, is reported. He denied any prior medical illness, but was admitted to our hospital with a history of a cough, and progressive dyspnea and hemoptysis 2 and 1 week duration, respectively. Chest radiographs on admission revealed a huge lung mass, 10 cm in diameter, in the left upper lung field, with left pleural effusion. Although biopsies using several diagnostic methods for the pathological confirmation were attempted, the pathology was not confirmed. Finally, the patient died after 2 months of regression. An autopsy of the lung was then performed.