No abstract available.
Erythropoietin* ; Humans* ; Renal Dialysis*

No abstract available.
Bilirubin* ; Humans ; Infant, Newborn* ; Kernicterus*

Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.
Chromosome Aberrations ; Chromosomes, Human, Pair 14 ; Comparative Genomic Hybridization ; Cytogenetics ; DNA Copy Number Variations ; Heart Diseases ; Humans ; Hypogonadism ; Intellectual Disability ; Karyotype ; Karyotyping ; Mitochondrial Diseases ; Mosaicism ; Ophthalmoplegia ; Phenotype ; Skin ; Trisomy

Paget’s disease of the bone is a prevalent bone disease characterized by disorganized bone remodeling; however, it is comparatively uncommon in East Asian countries, including China, Japan, and Korea. The exact cause still remains unknown. In genetically susceptible individuals, environmental triggers such as paramyxoviral infections are likely to cause the disease. Increased osteoclast activity results in increased bone resorption, which attracts osteoblasts and generates new bone matrix. Fast bone resorption and formation lead to the development of disorganized bone tissue. Increasing serum alkaline phosphatase or unique radiographic lesions may serve as the diagnostic indicators. Common symptoms include bone pain, bowing of the long bones, an enlarged skull, and hearing loss. The diagnosis is frequently confirmed by radiographic and nuclear scintigraphy of the bone. Further, bisphosphonates such as zoledronic acid and pamidronate are effective for its treatment. Moreover, biochemical monitoring is superior to the symptoms as a recurrence indicator. This article discusses the updates of Paget’s disease of bone with a clinical case.

No abstract available.
Respiratory Distress Syndrome, Newborn*

PURPOSE: This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution. MATERIALS AND METHODS: We collected clinical and cytogenetic data based on retrospective charts at Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012. RESULTS: A total of 190 patients were identified. Mean age was 5.1+/-1.87 years. Array CGH yielded abnormal results in 26 of 190 patients (13.7%). Copy number losses were about two-fold more frequent than gains. A total of 61.5% of all patients had copy number losses. The most common deletion disorders included 22q11.2 deletion syndrome, 15q11.2q12 deletion and 18q deletion syndrome. Copy number gains were identified in 34.6% of patients, and common diseases among these included Potocki-Lupski syndrome, 15q11-13 duplication syndrome and duplication 22q. Abnormal karyotype with normal array CGH results was exhibited in 2.6% of patients; theses included balanced translocation (n=2), inversion (n=2) and low-level mosaicism (n=1). Facial abnormalities (p<0.001) and failure to thrive were (p<0.001) also more frequent in the group of patients with abnormal CGH findings. CONCLUSION: Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive.
Adolescent ; Adult ; Child ; Child, Preschool ; Comparative Genomic Hybridization/*methods ; Female ; Gene Dosage/genetics ; Humans ; Infant ; Intellectual Disability/*genetics ; Karyotype ; Male ; Republic of Korea ; Retrospective Studies ; Tertiary Healthcare/statistics & numerical data ; Young Adult

No abstract available.
Pneumoconiosis* ; Welding*

Currently many modalities are available for intracorporeal stone fragmentation. Among them electrohydraulic lithotripsy destructs stone by the effects produced when An electric discharges occurs in a liquid medium. Though electrohydraulic lithotripsy fragments all kinds of urinary calculi effectively, the major limitation of electrohydraulic lithotripsy remains the potential for urothelial injury. The objective of the present study is to evaluate the possible acute and long-term tissue effects of this instrument on the rabbit bladder. The tissue effects produced by a electrohydraulic lithotripsy were examined and compared. In all acute animals, visible mucosal lesions were seen at the site of probe firing in the bladder except the minor of 3millimeter-distance group. No significant long-term tissue effects were noted either grossly or pathologically in the 3-week animals. This study confirms our clinical impression that electrohydraulic lithotripsy can provide an efficient and safe modality of intracorporeal lithotripsy through proper patient selection and careful attention to technique.
Animals ; Fires ; Lithotripsy* ; Patient Selection ; Urinary Bladder* ; Urinary Calculi

Coronary stent dislodgement during percutaneous coronary intervention, which occurs when the stent is passed through tortuous and calcified lesions, is not a rare complication. Without proper treatment, such as fixing with another stent in the coronary artery or removing the undeployed stent from the coronary artery or systemic artery system, this complication can cause serious problems. We experienced the unusual situation of a dismounted and dislodged coronary stent, in which retrograde retrieval to the radial artery was impossible during transradial coronary intervention. We report on use of a rendezvous and snare technique at the brachial artery level via femoral puncture, which resulted in resolution without surgery.
Arteries ; Brachial Artery* ; Coronary Vessels ; Endovascular Procedures ; Percutaneous Coronary Intervention ; Punctures ; Radial Artery ; SNARE Proteins* ; Stents*

Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. In this paper, we report on the clinical and cytogenetic features of two Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. Patient 1 (Smith-Magenis syndrome) was a 2.9-yr-old boy who showed mild dysmorphic features, aggressive behavioral problems, and developmental delay. Patient 2 (Potocki-Lupski syndrome), a 17-yr-old boy, had only intellectual disabilities and language developmental delay. We used array comparative genomic hybridization (array CGH) and found a 2.6 Mb-sized deletion and a reciprocal 2.1 Mb-sized duplication involving the 17p11.2. These regions overlapped in a 2.1 Mb size containing 11 common genes, including RAI1 and SREBF.
Adolescent ; Asian Continental Ancestry Group/*genetics ; Child, Preschool ; *Chromosomes, Human, Pair 17 ; Comparative Genomic Hybridization ; Developmental Disabilities/etiology/genetics ; Gene Deletion ; Gene Duplication ; Humans ; Intellectual Disability/etiology/genetics ; Karyotyping ; Male ; Smith-Magenis Syndrome/diagnosis/*genetics ; Sterol Regulatory Element Binding Protein 1/genetics ; Transcription Factors/genetics