Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

Mutations in the type I collagen genes COL1A1 and COL1A2 are responsible for the dominantly inherited connective tissue disorder osteogenesis imperfecta (OI). The severity of OI is diverse, ranging from perinatal lethality to a very mild phenotype that is characterized by normal stature and the absence of deformities. Although there have been several studies on the mutational spectra of COL1A1 and/or COL1A2 in Western populations, very few cases have been reported from Asia.

Disappearance of essential tremor after frontal cortical infarct.

We present a patient with essential tremor who spontaneously improved after a sensorimotor stroke related to a small cortical infarct near by the left precentral region of the brain. This finding supports the presence of cortical or transcortical motor loops that are likely involved in essential tremor and suggests a possible link with the cerebellar-thalamic-cortical pathway.

Identification of DNA copy-number aberrations by array-comparative genomic hybridization in patients with schizophrenia.

Chromosomal abnormalities are implicated as important markers for the pathogenesis in patients with schizophrenia. In this study, with using bacterial artificial chromosome (BAC) array-based comparative genomic hybridization (CGH), we analyzed DNA copy-number changes among 30 patients with schizophrenia. The most frequent changes were partial gain of Xq23 (52%) and loss of 3q13.

[Does a higher coronary artery bypass graft surgery volume always have a low in-hospital mortality rate in Korea?].

Objectives: To propose a risk-adjustment model with using insurance claims data and to analyze whether or not the outcomes of non-emergent and isolated coronary artery bypass graft surgery (CABG) differed between the low- and high-volume hospitals for the patients who are at different levels of surgical risk.

Methods: This is a cross-sectional study that used the 2002 data of the national health insurance claims. The study data set included the patient level data as well as all the ICD-10 diagnosis and procedure codes that were recorded in the claims.

Successful stem cell therapy using umbilical cord blood-derived multipotent stem cells for Buerger's disease and ischemic limb disease animal model.

Buerger's disease, also known as thromboangiitis obliterans, is a nonatherosclerotic, inflammatory, vasoocclusive disease. It is characterized pathologically as a panangiitis of medium and small blood vessels, including both arteries and adjacent veins, especially the distal extremities (the feet and the hands). There is no curative medication or surgery for this disease.

[Impact of risk adjustment with insurance claims data on cesarean delivery rates of healthcare organizations in Korea].

Objectives: To propose a risk-adjustment model from insurance claims data, and analyze the changes in cesarean section rates of healthcare organizations after adjusting for risk distribution.

Methods: The study sample included delivery claims data from January to September, 2003. A risk-adjustment model was built using the 1st quarter data, and the 2nd and 3rd quarter data were used for a validation test.

Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.

Background: Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). We demonstrated PAH mutational spectrum from patients with PKU, including 10 novel and 3 tetrahydrobiopterin (BH(4))-responsive mutations. In this study, 11 PAH missense mutations, including 6 novel mutations (P69S, G103S, L293M, G332V, S391I, A447P) found in our previous study, 2 mutations common in east Asian patients with PKU (R243Q, R413P), and 3 tetrahydrobiopterin (BH(4))-responsive mutations (R53H, R241C, R408Q) have been functionally and structurally analyzed.

Serotonergic activity contributes to analgesic overuse in chronic tension-type headache.

Objective: To evaluate the possible existence of a genetically determined innate factor that could exert a profound influence on the development of analgesic overuse in chronic tension-type headache (CTTH).

Background: Many patients with CTTHs report the regular use of analgesics. Continuous use of analgesics results in the ultimate worsening of headaches.

Association of vitamin D receptor gene polymorphism and Parkinson's disease in Koreans.

1alpha,25-dihydroxyvitamin D3 (1,25(OH)2D3), which is the biologically active form of vitamin D, has anti-inflammatory effects and can prevent experimental Parkinson's disease (PD). 1,25(OH)2D3 exerts most of its actions only after it binds to its specific nuclear receptors. Eighty-five Korean patients with PD and 231 unrelated healthy individuals were evaluated to determine if vitamin D receptor gene (VDRG) BsmI polymorphisms were markers for the susceptibility to PD in Korean patients.

In vitro differentiation of mouse embryonic stem cells: enrichment of endodermal cells in the embryoid body.

Embryonic stem (ES) cells have the potential to differentiate into all three germ layers, providing new perspectives not only for embryonic development but also for the application in cell replacement therapies. Even though the formation of an embryoid body (EB) in a suspension culture has been the most popular method to differentiate ES cells into a wide range of cells, not much is known about the characteristics of EB cells. To this end, we investigated the process of EB formation in the suspension culture of ES cells at weekly intervals for up to 6 weeks.

Multicenter analysis of clinicopathologic features of intraductal papillary mucinous tumor of the pancreas: is it possible to predict the malignancy before surgery?

Background: Despite recently increasing numbers of reports on intraductal papillary mucinous tumors (IPMTs), difficulties still remain in terms of diagnosis, treatment, and prognosis. The purpose of this multicenter study was to evaluate the clinicopathologic features of IPMT in Korea and to suggest predictive criteria for malignancy in IPMT.

Methods: We retrospectively reviewed the clinicopathologic data of 208 patients who underwent operations for IPMT between 1993 and 2002 at 28 institutes in Korea.

Risk factors for falls among the community-dwelling elderly in Korea.

Community-based centres were surveyed to determine the frequency of and risk factors for falls among elderly Koreans. We examined fall-related risk factors, including physiological and physical health, psychosocial functions, self-reported physical capacity and activity, vision, and the use of medication, among 351 elderly people aged 65 years or older, with ambulatory. Forty-two per cent of elderly Korean subjects reported at least one episode of falling in the previous 12 months, 38% of whom had consequences that required either the attention of a physician or hospitalization.

The haploinsufficient tumor suppressor p18 upregulates p53 via interactions with ATM/ATR.

p18 was first identified as a factor associated with a macromolecular tRNA synthetase complex. Here we describe the mouse p18 loss-of-function phenotype and a role for p18 in the DNA damage response. Inactivation of both p18 alleles caused embryonic lethality, while heterozygous mice showed high susceptibility to spontaneous tumors.

[Prevalence and associated factors of falls among people with Parkinson's disease].

Purpose: This study was done to identify the risk factors associated with falls among patients with Parkinson's Disease(PD).

Method: A retrospective study design was used through the collection of physiological and physical health, and psychosocial functions.

Results: Of the 100 participants, fifty-nine (59%) reported one or more falls and seventy-one (71%) reported one or more near-falls.

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection. We developed a reliable quantitative real-time PCR with SYBR Green I dye and studied 13 patients with SMA and their 24 parents, as well as 326 healthy normal individuals.

Mesomelic dwarfism in pseudoachondroplasia.

Pseudoachondroplasia (PSACH) is associated with mutations in the cartilage oligomeric matrix protein (COMP) gene and the clinical characteristics include short stature, deformities of the extremities involving the epiphyses and metaphyses, early onset arthritis, and ligament laxity. PSACH has been considered a rhizomelic form of dwarfism. So far no previous report has described mesomelic shortening of the limbs in PSACH.

Serotonin transporter polymorphism and harm avoidance personality in chronic tension-type headache.

Objective: To investigate the 5-HTT-gene-linked polymorphic region (5-HTTLPR) genotypes and harm avoidance (HA) dimension in chronic tension-type headache (CTH).

Background: Serotonin transporter protein (5-HTT) is a key modulating protein in synaptic serotonergic neurotransmission. Among serotonin gene-linked polymorphism, promoter located in the regulatory region of the 5-HTTLPR has two alleles (short and long) with different transcriptional efficiencies.

Mucoepidermoid carcinoma of the liver diagnosed as a liver abscess: report of a case.

Mucoepidermoid carcinoma of the liver is a rare variant of cholangiocarcinoma, containing both mucus-secreting glandular cells and squamous cells mixed in nests. We report a case of mucoepidermoid carcinoma of the liver in a 69-year-old woman who presented with a 1-week history of fever, chills, and right flank pain. On admission, she was not jaundiced, and under a provisional diagnosis of liver abscess, a pigtail catheter was inserted into the abscess cavity.

The molecular basis of phenylketonuria in Koreans.

Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). We characterized the PAH mutations of 79 independent Korean patients with PKU or hyperphenylalaninemia. PAH nucleotide sequence analysis revealed 39 different mutations, including ten novel mutations.

Protective effect of epigallocatechin gallate on brain damage after transient middle cerebral artery occlusion in rats.

Epigallocatechin gallate (EGCG), a major constituent of green tea, is a potent free radical scavenger. The purpose of this study was to verify whether EGCG reduces focal ischemia/reperfusion-induced brain injury in a rat model. Male Sprague-Dawley rats were anesthetized with chloral hydrate (400 mg/kg, i.

A randomized crossover comparative study of aspirin, cilostazol and clopidogrel in normal controls: analysis with quantitative bleeding time and platelet aggregation test.

The effects of three antiplatelet drugs, aspirin, clopidogrel and cilostazol, were examined and compared using a quantitative bleeding time (QBT) test apparatus. In 12 healthy adult male subjects, a QBT test and platelet aggregation test were performed before and after medication. Cilostazol was found to be as effective as aspirin and clopidogrel in inhibiting platelet aggregation.

Spondyloepiphyseal dysplasia congenita with absent femoral head.

Spondyloepiphyseal dysplasia congenita (SEDC), an inherited chondrodysplasia, occurs through a mutation in the COL2A1 gene encoding the type II procollagen alpha1 chain, proalpha1 (II). Recently, the authors studied two Korean patients with SEDC. Both these patients had short stature, os odontoideum with or without atlantoaxial instability, platyspondyly, and epiphyseal dysplasia limited to the femoral heads.

Skull metastasis from ampulla of Vater adenocarcinoma: case report.

We report a rare case of skull metastasis from ampulla of Vater adenocarcinoma in a patient with controlled primary neoplasm. This 65-year-old Korean man presented with headache and painful parietal scalp swelling, but he did not show any neurological deficits. Computed tomography revealed an osteolytic mass that invaded and expanded through the skull tables in full-thickness.

Detection of acute Epstein Barr virus cerebellitis using sequential brain HMPAO-SPECT imaging.

We used Technetium-99m hexamethyl propylene amine oxime single-photon emission computed tomography (HMPAO-SPECT) and magnetic resonance imaging (MRI) to evaluate a 30-year-old woman who developed cerebellar dysfunction after infection with Epstein Barr virus. Although no abnormal findings were evident from a brain MRI, the HMPAO-SPECT revealed increased perfusion in both cerebellar hemispheres. The patient improved without specific treatment.