No abstract available.

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*

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*

Aleukemic leukemia cutis is a rare condition characterized by invasion of leukemic cells in the skin before their appearance in the peripheral blood or bone marrow. We report a case of a 24-year-old man who presented with a 2-month history of nodules on his chin and left thigh. His medical history included acute myelocytic leukemia which had been in complete remission for 13 years and seminoma of the right testis which had been treated with orchiectomy 1 year before. Biopsy of the cutaneous lesions revealed infiltrating cells characterized by irregular shaped or kidney bean-shaped nuclei with abundant pale, slightly eosinophilic cytoplasm. These atypical cells stained positive for leukocyte common antigen, lysozyme and myeloperoxidase. His peripheral blood examination and bone marrow biopsy failed to demonstrate leukemic changes. With these results, a diagnosis of aleukemic leukemia cutis was made. We then performed another immunohistochemical stain for lysozyme and myeloperoxidase on the testicular specimen which had been diagnosed as seminoma 1 year previously. The tumor cells of seminoma were lysozyme- and myeloperoxidase-positive. We were also able to diagnose seminoma as isolated granulocytic sarcoma. A complete remission of the cutaneous lesion was achieved with chemotherapy, but recurrent leukemia cutis reappeared six months later. He underwent a bone marrow transplant but died 3 months later.
Antigens, CD45 ; Biopsy ; Bone Marrow ; Chin ; Cytoplasm ; Diagnosis ; Drug Therapy ; Eosinophils ; Humans ; Kidney ; Leukemia* ; Leukemia, Myeloid, Acute ; Muramidase ; Orchiectomy ; Peroxidase ; Sarcoma, Myeloid ; Seminoma ; Skin ; Testis ; Thigh ; Young Adult

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

PURPOSE: Whereas lymph node metastasis in gastric cancer is an important prognostic factor, the prognostic relevance of occult tumor cells in lymph nodes has not yet been elucidated. The aims of this study were to assess the incidence of micrometastases of lymph nodes in patients with submucosally invaded gastric cancer and to investigate whether micrometastases of lymph nodes have prognostic significance. METHODS: In order to evaluate the incidence of lymph node micrometastases in patients with submucosal gastric cancer, 1423 lymph nodes taken from 55 patients were assessed by immunohistochemical technique using a monoclonal anti-human cytokeratin-8. Clinicopathologic parameters and prognoses were compared between patients with and without micrometastases. RESULTS: The incidence of nodal involvement by tumor cells in 55 patients with submucosal gastric cancer increased from 20.0% (11 patients) by hematoxylin-eosin (H-E) staining to 30.8% (17 patients) by immunohistochemical staining. Nodal positivity in this study increased from 0.8% (12/1423 nodes) by H-E staining to 3.2% (45/1423 nodes) by immunohistochemical staining (p=0.003). The presence of cytokeratin positivity was not related to various clinicopathologic factors. As estimated by the Kaplan-Meier lifetable methods, there was no significant difference in the five-year survival rate between the micrometastases negative and positive groups (94.8% and 94.1%, respectively). CONCLUSION: The presence of nodal micrometastases detected by immunohistochemical technique is an interesting phenomenon, however clinically it seems to be of only weak prognostic value in submucosal gastric cancer.
Humans ; Incidence* ; Keratin-8 ; Keratins ; Lymph Nodes* ; Neoplasm Metastasis ; Neoplasm Micrometastasis* ; Prognosis ; Stomach Neoplasms* ; Survival Rate

PURPOSE: Whereas lymph node metastases in colorectal carcinoma are important prognostic factor, the prognostic relevance of occult tumor cells in lymph nodes has not been elucidated yet. Aims of this study were to assess the incidence of micrometastases of lymph nodes in patients with Dukes' B colorectal carcinoma and to investigate the correlation between nodal micrometastases and malignant potential to determine whether micrometastases of lymph nodes have prognostic significance, using an anti-cytokeratin immunohistochemical technique. METHODS: To evaluate the incidence of lymph node micrometastases in patients with Dukes' B colorectal carcinoma, 1160 lymph nodes taken from 65 patients (17.9 per case) were assessed by immunohistochemical technique using a monoclonal anti-human cytokeratin (MNF 116). Clinicopathologic parameters and survival rate were compared between patients with and without micrometastases. RESULTS: The incidence of nodal involvement by tumor cells in 65 patients with Dukes' B colorectal carcinoma (41 colon, 22 rectum, 2 synchronous cancer) was 30.8% (20 cases) and nodal positivity 3.2% (33/1423 nodes) by the immunostaining. No correlations were observed between the incidence of cytokeratin positivity and various clinicopathologic parameters, including preoperative CEA level, tumor site and size, histologic differentiation, pT stage, vascular invasion and lymphatic invasion and rate of recurrence. There was no difference in five-year survival estimated by Kaplan-Meier lifetable method between the micrometastases negative and positive groups (94.8% and 94.1%, respectively). CONCLUSIONS: The presence of nodal micrometastases detected by anti-cytokeratin immunohistochemistry is an interesting phenomenon but clinically seems to be of little prognostic value in patients with Dukes' B colorectal carcinoma. Thus, this immunostaining technique does not offer a significant benefit over conventional pathologic staging using hematoxylin-eosin staining.
Colon ; Colorectal Neoplasms* ; Humans ; Immunohistochemistry ; Incidence ; Keratins ; Lymph Nodes* ; Neoplasm Metastasis ; Neoplasm Micrometastasis* ; Rectum ; Recurrence ; Survival Rate

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