Spinal muscular atrophy(SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5(5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron(SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein(NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the siginificance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.
Apoptosis ; Arm ; Chromosomes, Human, Pair 5 ; Diagnosis* ; Humans ; Mass Screening ; Microsatellite Repeats ; Muscular Atrophy, Spinal* ; Muscular Dystrophy, Duchenne ; Neuromuscular Diseases ; Neurons ; Polymerase Chain Reaction ; Prenatal Diagnosis ; Wills

BACKGROUND: Spinal muscular atrophy (SMA) is the second most common disease with autosomal recessive mode of inheritance in children and characterized by degeneration of anterior horn cells of the spinal cord resulting in weakness and wasting of voluntary muscles. This disease is caused by deletion of many candidate genes including SMN, p44, NAIP on chromosome 5q11.2-13.3. Although molecular characteristics of candidate genes were identified, genotype-phenotype correlation has not been clearly elucidated yet. Nevertheless, gene conversion, previously described as simply as gene deletion, appears to be very important mechanism as a molecular pathogenesis, and even makes more difficult to pursue the correlation. PURPOSE: This study was aimed to define the correlation between genotype and phenotype of SMA in Korean patients. The significance of SMN gene as well as NAIP gene, p44 gene in the progress of disease process and phenotypic correlation with gene conversion was evaluated. This study was also undertaken to determine the frequency of gene rearrangements in normal population. METHOD: Eight type I SMA patients and two type II SMA patients were studied. SMN, NAIP, and p44 gene deletion were analyzed by PCR amplification and restriction enzyme digestion with DraI, DdeI and AluI, respectively. p44 gene was also analyzed by SSCP. Gene conversion was defined by centromeric and telomeric SMN gene exon 7 to exon 8 PCR amplification followed by DdeI restiction enzyme digestion. RESULT: 1) Five of eight type I patients showed deletion of SMN, NAIP and p44 gene, while the rest of type 1 and all type II patients showed deletion of SMN gene only. 2) We examined SMN and NAIP gene deletion on 100 normal newborns, which showed the deletion of centromeric SMN gene in two newborns, the relative frequency of 2% in gene rearrangement. 3) There was one case of type I SMA showing deletion of telomeric SMN exon 7 but not SMN exon 8 suggestive of gene conversion occurred during the recombination as a molecular pathogenesis. CONCLUSION: The major deletion of SMA candidate genes, SMN, NAIP, and p44 gene appear to be involved in severe phenotype since these three candidate genes deletion were noted only in type 1 cases. However, SMN gene deletion only identified both in type 1 and type 2 explains that SMN gene may plan an major role in the pathogenesis of SMA and also suggests that other factors may be affecting the severity in spinal muscular atrophy. One patient with type I which showed the conversion of the centromeric SMN gene to the teleomeric gene strongly supports that SMN gene copy number may not be correlated with the severity in SMA. Our molecular findings suggest that phenotype is not clearly correlated with genotype. Prenatal screening should be carefully undertaken to interpretate because of high frequency of gene rearrangements in normal populations.
Anterior Horn Cells ; Child ; Digestion ; Exons ; Gene Conversion ; Gene Deletion ; Gene Dosage ; Gene Rearrangement ; Genetic Association Studies ; Genotype* ; Humans ; Infant, Newborn ; Muscle, Skeletal ; Muscular Atrophy, Spinal* ; Phenotype* ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Prenatal Diagnosis ; Recombination, Genetic ; Spinal Cord ; Wills

Tyrosinemia type 1 is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase(FAH). The disease is characterized by hepatic dysfuntion, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. Two forms of the disease, acute and chronic, are thought to be from the residual enzyme activity in the liver. The diagnosis of the tyrosinemia type 1 is suggested by elevated plasma tyrosine, supported by increased urinary succinylacetone, and confirmed by reduced FAH activity in cultured fibroblasts. We had a 5 month old Korean boy with acute tyrosinemia type 1 who presented with recurrent sepsis-like episodes since 2 months of age, progressive liver dysfunction, and rickets. Plasma amino acid analysis showed markedly elevated tyrosine, methionine and urine amino acid analysis was suggestive of Fanconi syndrome showing generalized aminoaciduria. Organic acid analysis by Gas Chromatography/Mass Spectrometry detected large amount of succinylacetone excreted in the urine. Delta-aminolevulinic acid was elevated as well. X-ray findings were characteristics of rickets and abdominal sonogram, CT and MRI revealed cirrhotic liver with varying size of multiple nodules. Liver transplantation was strongly recommended throughout his clinical course but refused by parents, and he died of hepatic failure at the age of 8 months. Autospy was perfomed showing macro and micronodular liver cirrhosis. Kidney was markedly enlarged, however, glomeruli and tubules were relatively unaltered. Mutation analysis is under the study.
Acute Disease ; Aminolevulinic Acid ; Carcinoma, Hepatocellular ; Diagnosis ; Fanconi Syndrome ; Fibroblasts ; Humans ; Infant* ; Kidney ; Liver ; Liver Cirrhosis ; Liver Diseases ; Liver Failure ; Liver Transplantation ; Magnetic Resonance Imaging ; Male* ; Methionine ; Parents ; Plasma ; Rickets ; Spectrum Analysis ; Tyrosine ; Tyrosinemias*

Canine hyperadrenocorticism (HAC) is one of the most common causes of general osteopenia. In this study, quantitative computed tomography (QCT) was used to compare the bone mineral densities (BMD) between 39 normal dogs and 8 dogs with HAC (6 pituitary-dependent hyperadrenocorticism [PDH]; pituitary dependent hyperadrenocorticism, 2 adrenal hyperadrenocorticism [ADH]; adrenal dependent hyperadrenocorticism) diagnosed through hormonal assay. A computed tomogaraphy scan of the 12th thoracic to 7th lumbar vertebra was performed and the region of interest was drawn in each trabecular and cortical bone. Mean Hounsfield unit values were converted to equivalent BMD with bone-density phantom by linear regression analysis. The converted mean trabecular BMDs were significantly lower than those of normal dogs. ADH dogs showed significantly lower BMDs at cortical bone than normal dogs. Mean trabecular BMDs of dogs with PDH using QCT were significantly lower than those of normal dogs, and both mean trabecular and cortical BMDs in dogs with ADH were significantly lower than those of normal dogs. Taken together, these findings indicate that QCT is useful to assess BMD in dogs with HAC.
Adrenocortical Hyperfunction* ; Animals ; Bone Density* ; Bone Diseases, Metabolic ; Dogs* ; Linear Models ; Spine

Duodenal varices can result from portal hypertension regardless of the etiologies of liver cirrhosis. Bleeding from duodenal varices is rare but often severe and life threatening. Treatment modalities of duodenal varices include endoscopic sclerotherapy, transjugular intrahepatic portosystemic shunt, and surgery. As an initial treatment, endoscopic sclerotherapy is recommended due to easy accessibility but has limited success in controlling active duodenal variceal bleeding. In this case, we report a spurting duodenal varix treated with Histoacryl(R) injection in a 48-year-old woman with secondary biliary cirrhosis. Endoscopic sclerotherapy with Histoacryl(R) is a useful therapeutic measure in the treatment of bleeding duodenal varix.
Esophageal and Gastric Varices* ; Female ; Hemorrhage ; Humans ; Hypertension, Portal ; Liver Cirrhosis ; Liver Cirrhosis, Biliary* ; Middle Aged ; Portasystemic Shunt, Surgical ; Sclerotherapy* ; Varicose Veins

OBJECTIVE: To evaluate the clinical effectiveness of minilaparotomy total hysterectomy compared with other methods of hysterectomy ever used. METHODS: Data of 300 women who had been done hysterectomy due to benign gynecologic disease were used for this thesis. Minilaparotomy hysterectomy was done for 40 women, classical transabdominal hysterectomy for 186 women, laparoscopic assisted vaginal total hysterectomy for 28 women and vaginal total hysterectomy for 46 women. Women's clinical data and clinical outcome were compared using Excel and SPSS. RESULTS: Minilaparotomy hysterectomy has no limitation in choosing patient and adnexal surgery like classical transabdominal hysterectomy, and postoperative clinical course is so rapid similar with laparosocopic assisted vaginal total hysterectomy. CONCLUSION: Minilaparotomy hysterecomy is good choice for treatment of benign gynecologic disease.
Female ; Genital Diseases, Female* ; Humans ; Hysterectomy* ; Laparotomy

PURPOSE: The objective of this study was to evaluate our institutional experience with veno-venous (VV) extracorporeal membrane oxygenation (ECMO) in patients with severe acute respiratory failure (ARF). MATERIALS AND METHODS: From January 2007 to August 2013, 31 patients with severe ARF that was due to various causes and refractory to mechanical ventilation with conventional therapy were supported with VV ECMO. A partial pressure of arterial oxygen (PaO2)/inspired fraction of oxygen (FiO2) <100 mm Hg at an FiO2 of 1.0 or a pH <7.25 due to CO2 retention were set as criteria for VV ECMO. RESULTS: Overall, 68% of patients survived among those who had received VV ECMO with a mean PaO2/FiO2 of 56.8 mm Hg. Furthermore, in trauma patients, early use of ECMO had the best outcome with a 94% survival rate. CONCLUSION: VV ECMO is an excellent, life-saving treatment option in patients suffering from acute and life-threatening respiratory failure due to various causes, especially trauma, and early use of VV ECMO therapy improved outcomes in these patients.
Acute Disease ; Adult ; Cause of Death ; *Extracorporeal Membrane Oxygenation ; Female ; Humans ; Male ; Middle Aged ; Respiratory Insufficiency/complications/*therapy ; Survival Analysis ; Treatment Outcome

Mongolian gerbil has been as an model animal for studing the neurological diseases such as stroke and epilepsy because of the congenital incompleteries in Willis circle, as well as the investigation of water metabolism because of the long time-survival in the condition of water-deprived desert condition, compared with other animal species. In order to accomplish this research, first of all another divided the laboratory animals 5 groups of which each group include the 5 animals. In this study of the long term water deprived condition author investigatied the vasopressinergic and oxytocinergic magnocellular neurons of the hypothalamus by using a quantitative immunohistochemistry, measured the plasma osmolalities at the time of sacrifice of indivisual animals, and the body weights every day during water-deprived. The results obtained in this study were summarized as followings: 1. The body weights and decreasing rates of the body weight in water-deprived animal groups were continuosly decreased. 2. The plasma osmolalities were increased from the 5th water-deprived day, after then the gradually increase reached nearly its equilibrium state at the 10th water-deprived day. 3. Vasopressin and oxytocin immunoreactive cells were mainly observed in PVN, SON and a few in the lateral magnocellular area of hypothalamus. 4. The number of VP immunoreactive cells in paraventricular and supraoptic nucleus were abruptly decreas-ed until the 5th day in the supraoptic nucleus in number and until the 10th day in the paraventricular nucleus of water-deprived. 5. The OT secreting cells were severely decreased on the 5th water deprived day in paraventricular and supraoptic nucleus, after than these cells were very slowly decreased until to the 38th water deprived day.
Animals ; Animals, Laboratory ; Body Weight ; Circle of Willis ; Epilepsy ; Gerbillinae* ; Hypothalamus* ; Immunohistochemistry ; Metabolism ; Neurons* ; Osmolar Concentration ; Oxytocin ; Paraventricular Hypothalamic Nucleus ; Plasma ; Stroke ; Supraoptic Nucleus ; Vasopressins