OBJECTIVE: Linkage analysis is a very useful method for prenatal diagnosis of Hemophilia B, especially when a mutation was not identified. Seven polymorphic markers were studied in Korean populations to evaluate the efficiency for prenatal and carrier diagnosis. METHODS: Subjects of this study was 100 healthy Korean women (200 X-chromosomes). Polymerase chain reacton-restriction fragment length polymorphism (PCR-RFLP) method was used to detect SalI, MseI, NruI, DdeI, XmnI, TaqI and HhaI polymorphisms. RESULTS: SalI (-) allele showed the frequency of 0.355 and SalI(+) allele 0.645. MseI(-) allele was 0.645 in frequency and MseI(+) allele was 0.355. SalI and MseI polymorphisms were in complete linkage disequilibrium. And no increase was expected in overall heterozygosity with these two polymorphisms. NruI(-) allele frequency was 0.855 and NruI(+) was 0.145. There was no polymorphism of DdeI, XmnI and TaqI marker systems in Korean population. In HhaI polymorphism, allele frequencies were estimated that HhaI(-) is 0.82 and HhaI(+) is 0.18. CONCLUSION: Only SalI, NruI and HhaI polymorphisms are useful for the diagnosis of hemophilia B in Korean population. Expected heterozygosity for above 3 poylmorphic markers was estimated to be 0.723, and 71 of 100 female subjects were heterozygous for at least one marker system. Korean population showed relatively low extent of polymorphisms compared to Caucasians, Blacks and Japanese. For the effective prenatal diagnosis of hemophilia B with linkage analysis, other polymorphic markers should be evaluated.
African Continental Ancestry Group ; Alleles ; Asian Continental Ancestry Group ; Diagnosis ; Factor IX* ; Female ; Gene Frequency ; Hemophilia B ; Humans ; Linkage Disequilibrium ; Prenatal Diagnosis

No abstract available.
Gallbladder* ; Neoplasm Metastasis*

No abstract available.

The distribution of enkephalin, dynorphin, substance P and neurotensin in the periaqueductal gray[PAG] has been well established by immunohistochemical methods. However, there is little information about the regional distribution of these neuropeptide mRNA-containing neurons in the PAG. The present study was undertaken [1] to elucidate the distribution of these neuropeptide mRNA-containing neurons and to determine of the PAG, [2] to know how peptide expression relates to the proposed functional subdivisions of the PAG and [3] to know how neuropeptide mRNA levels in the PAG change following peripheral neuropathy The results obtained are as follows ; 1. Preproenkephalin[pENK] mRNA-containing neurons are found mostly in the ventrolateral portion at all levels of the PAG. 2. Prodynorphin[pDYN] mRNA-containing neurons are concentrated mostly in the ventrolateral portion at the caudal level of the PAG. 3. Preprotachykinin[pTAK] mRNA-containing neurons are localized mainly in the ventrolateral portion at all levels of the PAG. There is small numbers of pTAK mRNA-containing neurons in the dorsolateral and dorsal portion at all levels of the PAG. 4. Proneurotensin[pNT] mRNA-containing neurons are concentrated mostly in the medial part of ventrolateral portion of the caudal and mid PAG. 5. Peripheral neuropathy induces an increase of pNT mRNA levels in the PAG, while pENK, pDYN and pTAK mRNAs levels show no change. The present results indicate that the pENK, pDYN, pTAK or pNT mRNA-containing neurons are found mainly in the ventrolateral PAG, the area where analgesia is most easily produced and that neurotensin in the PAG may play an important role in modulating chronic neuropathic pain.
Analgesia ; Animals ; Dynorphins ; Enkephalins ; Gene Expression* ; In Situ Hybridization ; Neuralgia* ; Neurons* ; Neuropeptides* ; Neurotensin ; Periaqueductal Gray* ; Peripheral Nervous System Diseases ; Rats* ; RNA, Messenger ; Substance P

With the aim of gaining more insight into the catecholaminergic system in the nervous system of the rat, we have studied the precise distribution pattern of the tyrosine hydroxylase immunoreactive[TH-IR] fibers and soma in the spinal cord and dorsal root ganglion. In the dorsal root ganglion[DRG], TH-IR fibers were observed to run along the vessel wall, spirally and not found in the neural tissue itself. A few TH-IR fibers were found in the spinal nerve, not in the ventral root. Many TH-IR neurons were distributed in the L3, 4, 5, and 6 DRG but none of them were found in the other DRG segments. In the spinal cord, TH-IR fibers have shown sparse distribution all over spinal cord but relatively dense distribution in the ventral horn, intermediolateral column, lamina I of the dorsal horn of the cervical, lumbar, sacral, and coccygeal segment. TH-IR neurons were found in the intermediolateral column, dorsal gray commissure, dorsal horn of the C1 and C2 segments and S1-4 segments. TH-IR neurons in the cervical segments were polygonal and spindle shaped with well developed processes. In contrast to this, TH-IR neurons in the sacral segments were oval or spindle shaped with no processes. In conclusion, neurons in the DRG were not influenced by catecholaminergic nervous input. Intrinsic catecholaminergic nervous systems were found in both of spinal cord and DRG.
Animals ; Carisoprodol ; Diagnosis-Related Groups ; Ganglia, Spinal* ; Horns ; Immunohistochemistry ; Nervous System ; Neurons ; Rats* ; Spinal Cord* ; Spinal Nerve Roots* ; Spinal Nerves ; Tyrosine 3-Monooxygenase ; Tyrosine*

Foreign-body reaction is characterised by a chronic, proliferative, inflammatory skin reaction. Histopathologically, foreign-body reaction typically exhibits a granulomatous response, which is marked by histiocytes and giant cells surrounding the foreign material. In addition, lymphocytes as well as plasma cells and neutrophils are usually present. The reaction can be caused by substances such as silk, nylon, wood, paraffin, silicon, talc, starch, oils, animal and vegetable spines or bristles and human hair. We report two cases of foreign-body reaction caused by wooden splinter, which has rarely been reported in previous literature.
Animals ; Foreign-Body Reaction* ; Giant Cells ; Hair ; Histiocytes ; Humans ; Lymphocytes ; Neutrophils ; Nylons ; Oils ; Paraffin ; Plasma Cells ; Silk ; Skin ; Spine ; Starch ; Talc ; Vegetables ; Wood

BACKGROUND AND PURPOSE: Recently published, evidence-based guidelines should alter the management of amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). However, the newest recommendations for ALS/MND therapy are not reflected in actual clinical practice. We sought to evaluate the current status of the diagnosis and management of ALS in Korea. METHODS: The Korean ALS/MND research group was organized in 2010, involving more than 50 neurologists from neuromuscular centers in Korea. Participating centers collected data from April to September 2010 on the diagnosis and management of patients with ALS. Data forms from the ALS patient care database, which is a component of the ALS clinical assessment, research, and education program (http://www.outcomes-umassmed.org/ALS/), were modified and used for data collection. RESULTS: In total, 373 sporadic ALS cases from 35 centers were enrolled. The demographic features and clinical findings were similar to those in previous reports from other countries. The mean age at onset was 50-60 years, and a slight male predominance was observed. The enrolled patients predominantly showed focal onset of cervical or lumbosacral symptoms. Only about one-half of the indicated patients (31.4%) received a physician's recommendation for a parenteral gastrostomy, and 18.1% underwent the procedure. Noninvasive ventilation was recommended in 23% of patients, but applied in only 9.5% of them. Tracheostomy was performed in 12.7% of patients. CONCLUSIONS: The demographic and clinical features of the diagnosis and management of ALS in Korea are similar to those reported in other countries; however, supportive management, as recommended in evidence-based guidelines, are not yet widely recommended or performed for patients with ALS in Korea.
Amyotrophic Lateral Sclerosis ; Cross-Sectional Studies ; Gastrostomy ; Humans ; Korea ; Male ; Neurons ; Noninvasive Ventilation ; Palliative Care ; Patient Care ; Tracheostomy

Spiny keratoderma is a rare disorder and consists of multiple tiny keratotic plugs on the fingers and palms, which resemble the spines on a music box. Histopathologically, the lesions show compact columns of parakeratosis, with no granular layer beneath the column and no remarkable changes in the underlying epidermis and dermis. However, it is important to recognize that the disease is associated with internal malignancies. We report a case of spiny keratoderma in a 3-year-old girl, who had no associated underlying disorder.
Child, Preschool ; Dermis ; Epidermis ; Female ; Fingers ; Humans ; Music ; Parakeratosis ; Spine

The pathogenesis of craniosynostosis is the early bone fusion of the sutures. Conventional treatment focused on creating a bony gap in which distraction osteogenesis could be a contradictive procedure. There are few reports on the long-term follow-up of distraction in craniosynostosis and into the continuity of bone tissue. This study was performed to investigate if this continuity of the regenerated bone tissue, which can possibly have inhibitory potentials for bone growth, affects growth after distraction osteogenesis with long- term follow-up results. For the study, the authors realigned all CT scans into a same position using a software program using landmarks from the image for comparison in terms of growth ratio for patients with craniosynostosis. From January 2000 to October 2002, the authors performed distraction osteogenesis on 5 patients with craniosynostosis. Three patients had unilateral coronal craniosynostotis and 2 with unilambdoidal craniosynostosis. The follow-up period was from 13 months to 33 months after full distraction. 3D CT images were obtained preoperatively, after full distraction and at the last follow-up. The result was that the regenerated calvarial bone seems to grow in the same growth ratio as the normal side up to 2 years on follow-up in the patient with unilateral craniosynostosis. According to these results, we conclude that the regenerated bone grows as normal bone even after distraction osteogenesis.
Bone and Bones ; Bone Development* ; Craniosynostoses* ; Follow-Up Studies ; Humans ; Methods ; Osteogenesis, Distraction* ; Sutures ; Tomography, X-Ray Computed

No abstract available.
Dizziness* ; Humans ; Hypotension, Orthostatic* ; Parkinson Disease* ; Stroke*