PURPOSE: To evaluate the usefulness of an inferior pubectomy and a gracilis muscle flap for the reconstruction of a complicated posterior urethral stricture, where urethroplasty had failed, or due to a long urethral defect. MATERIALS AND METHODS: A total of sixty eight patients with complicated posterior urethral strictures, following a pelvic bone fracture, were managed by a one-stage perineal repair at Pundang CHA hospital between March 1998 and April 2002. End-to-end anastomosis was performed in all cases, with corporeal body separation, or an inferior pubectomy and transposition of the gracilis muscle flap performed in a progressive manner if required. RESULTS: The success rate of all the cases was 95.6%. Additional procedures made no differences to the incidence of impotence, and the incidences of restricture and incontinence were low. CONCLUSIONS: Our results shows that an inferior pubectomy and a gracilis muscle flap can be useful methods in the treatment and prevention of incontinence and restricture in most cases of complicated posterior urethral strictures.
Erectile Dysfunction ; Humans ; Incidence ; Male ; Pelvic Bones ; Urethral Stricture*

Impetigo herpetiformis is a rare pustular eruption that may be seen in late pregnancy. It is associated with severe maternal and fetal complications in case of misdiagnosis and delayed treatment. The patient was a 25-years-old multigravida with psoriasis in her past history. At 20weeks gestation, she had been developed erythematous scaly annular patchs with papules and pustules on inner thigh. At 37weeks' gestation, the patient was suffered from a severely pruritic pustular rash with fever and leukocytosis. The skin of the affected areas was biopsied and showed intraepidermal pustular abscess with a neutrophilic infiltrate. Treatment commenced with intravenous fluids, antibiotics, systemic prednisone, steroid creams, and phototherapy(UVB) under the careful fetal well being monitoring. Cesarean section was done due to fetal distress, and a normal healthy male infant was delivered, following which the patient's condition improved rapidly.
Abscess ; Anti-Bacterial Agents ; Cesarean Section ; Diagnostic Errors ; Exanthema ; Female ; Fetal Distress ; Fever ; Humans ; Impetigo* ; Infant ; Leukocytosis ; Male ; Neutrophils ; Prednisone ; Pregnancy* ; Psoriasis ; Skin ; Thigh

PURPOSE: Acute necrotizing encephalopathy (ANE) is a fulminant disease of the brain characterized by bilateral thalamic lesions, and is prevalent among children in East Asia. The prognosis of ANE is usually poor with a high mortality rate and neurological sequelae. This study aimed to delineate the clinical characteristics and prognostic factors of ANE. METHODS: We retrospectively analyzed clinical data of 399 pediatric patients with encephalitis who were admitted to Samsung Medical Center from December 1998 to March 2011. We enrolled ten patients (11 cases) with ANE and analyzed their demographic, clinical, and neuroimaging data. The location and extent of the brain regions were checked based on fluid-attenuated inversion recovery, T1-, and T2-weighted imaging findings; the presence of contrast enhancement, restricted diffusion, and hemorrhage. RESULTS: Ten patients were identified, including one patient with two episodes. The median age of onset was 1.5 years (0.4-8.4 years). The mortality rate was 40%, and only 30% of patients survived without neurological sequelae. The definite involvement of the brainstem on brain magnetic resonance imaging was significantly correlated with mortality (P=0.04). CONCLUSION: Broad and extensive brainstem involvement suggested the fulminant course of ANE. Early diagnosis of ANE before brainstem involvement, through careful identification of symptoms of brain dysfunction, may be the best way to achieve better neurological outcomes.
Age of Onset ; Brain ; Brain Stem* ; Child ; Diffusion ; Early Diagnosis ; Encephalitis ; Far East ; Hemorrhage ; Humans ; Korea ; Magnetic Resonance Imaging ; Mortality ; Neuroimaging ; Pediatrics ; Prognosis ; Retrospective Studies

Cardiovascular changes has been reported eating and digestion. Experimental studies showed an early rise in cardiac output during eating which was attributable to an increased heart rate. This changes reverted to baseline valuse at the end of eating. To investigate postprandial cardiac functional change, we studied 20 healthy young men(average age 27 years) nonivasively with BP measurement, electrocardiography and M-mode echocardiohrapy before, 30 minutes and 3 hours after a lunch(600 Kcal). There was no significant changes in mean blood pressure after eating. On echocardiography, diastolic and systolic left ventricular internal dimensions were 4.9+/-0.4 and 3.1+/-0.4cm before meal and 4.9+/-0.4 and 2.9+/-0.3cm 30 minutes after eating. There was an average increase of 9% in cardiac output 30 minutes after meal. Fractional shortening was 36.4+/-6.4% before meal and 40.4+/-6.1(p<0.05) 30 minutes after eating. Ejection fraction changed from 73.5+/-7.9% to 78.2+/-6.3%(p<0.05) at postprandial 30 minutes. Myocardial contractility index assessed by the ratio of systolic BP to end-systolic volume was 4.3+/-1.6mgHg/ml before and 5.3+/-2.2mmHg/ml 30 minutes after eating. Peripheral resistance index as the ratio of mean blood pressure divided by cardiac index changed from 2,536+/-1,120dynesdSdcm-5/m2 to 2,048+/-472dynesdSdcm-5/m2 at postprandial 30 minutes. Electorcardiographic study revealed no changes in ST SE segment, T wave and heart rate after a meal. In conclusion, the increase of cardiac output after a moderate meal in healthy young men was associated with an increase in myocardial contractility and a decrease in peripheral vascular resistance.
Blood Pressure ; Cardiac Output ; Digestion ; Eating ; Echocardiography* ; Electrocardiography ; Heart Rate ; Humans ; Male ; Meals* ; Vascular Resistance

No abstract available.
Saliva*

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.
Databases, Genetic ; Germ-Line Mutation ; Hair ; Humans ; Hypertelorism ; Intellectual Disability ; Megalencephaly ; Prevalence ; Problem Behavior ; Seizures ; Thorax

The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa treatment. Autosomal dominant DRD (DYT5a, MIM# 128230) is caused by a heterozygous mutation in the GTP cyclohydrolase 1 (GCH1) gene (MIM# 600225). GCH1 encodes an enzyme, which is involved in the biosynthesis of tetrahydrobiopterin, an essential co-factor for tyrosine hydroxylase. Herein, we report the case of a 16-year-old girl who was diagnosed with DYT5a. She exhibited additional unusual clinical features, including intellectual disability, depression, multiple skeletal anomalies, and short stature, which are not commonly observed in patients with DYT5a. The patient harbored a heterozygous missense variant, c.539A>C, p.Gln180Pro, in the GCH1 gene, which was identified by targeted gene panel analysis using next-generation sequencing.

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

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.
De Lange Syndrome* ; Female ; Genes, X-Linked ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mothers ; Mutation, Missense* ; Phenotype ; Rare Diseases ; Republic of Korea