No abstract available.
Congenital Abnormalities*

Congenital myotonia is a hereditary disorder of the skeletal muscle. The most characteristic features of the disease are myotonia and variable muscular hypertrophy. Molecular biologic investigations have revealed that mutations in the gene of the human skeletal muscle chloride ion channel protein are a cause of the disease. The Becker's type congenial myotonia is clinically similar to the autosomal dominantly inherited congenital myotonia (Thomsen's disease). Both disorders are characterized electrophysiologically by increased excitability of muscle fibers, reflected in clinical myotonia. In general, Becker's type congenital myotonia is more severe than Thomsen's disease in muscular hypertrophy and weakness. The authors recently experienced a 25-year-old female patient who has no family-related disease history and who has conspicuous muscular hypertrophy and the stiffness with muscles which occurred from the age of 3 or 4. Clinically she showed the authors a percussion myotonia. On electrophysiological study, exercise and repetitive stimulation of the abductor digiti quinti muscle disclosed a decline in the compound muscle action potential. Biopsy of biceps muscle revealed enlargement of muscle fibers with marked nuclear internalization. After the oral taking the Mexiletine, the patient showed a favorable turn a little with her stiffness of muscles. So we authors are reporting one case of Becker's type congenital myotonia with review of literatures.
Action Potentials ; Adult ; Biopsy ; Chloride Channels ; Female ; Humans ; Hypertrophy ; Mexiletine ; Muscle, Skeletal ; Muscles ; Myotonia ; Myotonia Congenita*

We herein describe a case of a 55-year-old healthy woman with localized primary thymic amyloidosis presented as a mediastinal mass, found incidentally by chest radiography. Computed tomography revealed a 4.1 cm soft tissue lesion with nodular calcification in the left anterior mediastinum. The resected specimen was a well-defined lobulating mass with calcification. Microscopically, the mass was consisted of amorphous eosinophilc hyalinized substances involving the thymus and intrathymic lymph nodes. These eosinophilic substances showed apple-green bi-refringence under polarized light after staining with Congo red. In immunohistochemical study, they were positive for kappa and lambda light chains and negative for amyloid A. There was no evidence of systemic amyloidosis in clinical investigations. A final diagnosis of localized primary thymic amyloidosis was made.
Amyloid ; Amyloidosis ; Congo Red ; Eosinophils ; Female ; Humans ; Hyalin ; Light ; Lymph Nodes ; Mediastinum ; Middle Aged ; Thorax ; Thymoma ; Thymus Gland

BACKGROUND AND PURPOSE: This study was undertaken to compare the sensitivity of the Repetitive Nerve Stimulation Test (RNST) between the upper and lower extremity muscles in myasthenia gravis(MG) patients. MATERIALS AND METHODS: The study population consisted of 20 normal persons(control group) and 10 MG patients(MG group). Using Stalberg's method. RNST was systemically performed in orbicularis oculi muscle. upper extremity muscles(flexor carpi ulnaris. abductor digiti quinti), and lower extremity muscles(tibialis anterior. extensor digitorum brevis. vastus medialis). RESULTS: There were statistical differences of decremental response(mean+/-SD) in orbicularis oculi and upper extremity muscles between the control and MG groups(p<0.05 or p<0.01). However, there was no statistical difference of decremental response(mean+/-SD) to RNST in lower extremity muscles between the control and MG groups. There were highersensitivity in orbicularis oculi and upper extremity muscles than lower extremity muscles. Although positive reponse were detected in the lower extremity muscles, the positive response rates of lower extremity muscles were lower than o.oculi and upper extremity muscles. CONCLUSIONS: When the response rates of RNST in facial and upper extremity muscles are normal, may not be required RNST in lower extremity muscles.
Humans ; Lower Extremity* ; Muscles* ; Myasthenia Gravis* ; Upper Extremity

BACKGROUND/AIMS: The caudal anesthsia is most commonly used for benign anorectal surgery, The combination of long-acting anesthetics and opiates has been used for longer duration and successful control of postoperative pain. But the side effects of peridural anesthesics and morphine have commonly occured in caudal anesthesia. This study was performed to assess the difference in clinical effects between peridural mepivacaine and bupivacaine with morphine. METHODS: We evaluated the clinical effects in 60 patients who had anal operation with Jack-Knife position under caudal anesthesia. We divided randomly these 60 patients into two groups, M and B groups (in each group, 30 patients included). Group M (n=30) was given 2% mepivacaine 20 ml with morphine 2 mg caudally, and Group B (n=30) was given 0.5% bupivacaine 20 ml with morphine 2 mg in the same manner. We measured the onset time, duration, postoperative analgesia, and side effects including urinary retention. RESULTS: The onset time for analgesia was significantly shorter in group M than in group B. The duration of postoperative pain complaints was significantly longer in group M than in group B. The postoperative analgesic effects and side effects were not significantly different between two groups. CONCLUSIONS: Caudal mepivacaine and morphine mixture is effective for control of postoperative pain without significant side effects.
Analgesia ; Anesthesia, Caudal* ; Anesthetics ; Bupivacaine* ; Humans ; Mepivacaine* ; Morphine* ; Pain, Postoperative ; Urinary Retention

To study the MEN1 gene mutations in a multiple endocrine neoplasia type 1 ( MEN 1 ) family,and determine the possible mechanism of disease induced by the mutations.Genomic DNA was isolated from peripheral blood leukocytes and the MEN1-related tumor tissues of the patient and the family members,then the coding exons and exon/intron boundaries of the MEN1 gene were amplified by polymerase chain reaction (PCR) and sequenced.Subclone sequencing was performed to identify the heterozygosity.Further immunohistochemistry was performed to observe menin protein expression in the tumor tissues.We identified a heterozygous deletion mutation of intron 9 ( IVS9+ 1_11 delGTGAGGGACAG) in the proband and two family menbers.We also demonstrated for the first time that the expression of menin protein is absent in the parathyroid adenoma tissue.The heterozygous mutation in the initial of intron 9,IVS9+ 1_11 delGTGAGGGACAG is a new type of MEN1 gene mutations in China.This mutation may produce an aberrant splicing of MEN1 mRNA,generating easily degradation and loss of expression of menin protein and resulting eventually in the disease.

Seventy-five patients with tumors of the head and neck treated with either radiation therapy alone or combined with surgery or chemotherapy were studied prospectively to evaluate the effects of radiation therapy to the neck on thyroid gland between September 1986 and October 1992. All patients were serially monitored for thyroid function tests before and after radiation therapy. Radiation dose to the thyroid gland ranged from 35 to 60 Gy with a median dose of 50 Gy. Median follow-up time was 30 months with a range of 11 to 85 months. The incidence of thyroid dysfunction was 40%; forty-five patients (60%) euthyroid, 2 patients (3%) clinical hypothyroidism, 27 patients (36%) subclinical hypothyroidism and 1 patient (1%) hyperthyroidism. No thyroid nodules or thyroid cancer were detected in any patients. Thyroid dysfunction appeared earlier in patients who underwent surgery than in those patients treated with radiation therapy alone or combination of chemotherapy and radiation therapy (p=0.0013). By multivariate analysis, risk factors that significantly influenced a higher incidence of thyroid dysfunction were female sex (p=0.0293) and combination of total larygectomy and radiation therapy (p=0.0045). In conclusion, evaluation of thyroid function before and after radiation therapy with periodic thyroid function tests are recommended to detect thyroid dysfunction in time and thyroid hormone replacement therapy is recommended whenever thyroid dysfunction develops.
Drug Therapy ; Female ; Follow-Up Studies ; Head* ; Hormone Replacement Therapy ; Humans ; Hyperthyroidism ; Hypothyroidism ; Incidence ; Multivariate Analysis ; Neck* ; Prospective Studies ; Risk Factors ; Thyroid Function Tests ; Thyroid Gland* ; Thyroid Neoplasms ; Thyroid Nodule

PURPOSE: Clinical features of Pancreatic Neuroendocrine Tumors (PETs) vary according to the hormone secreted and to the heredity of the tumors. Malignant PETs are common among nonfunctioning PETs (NFTs) whereas the majority of functioning PETs (FTs) are benign. Our goal was to determine the clinical features and prognosis of PETs stratified by the WHO classification scheme and AJCC-UICC 7TH TNM staging. METHODS: We selected for study 30 patients with PETs, including one case of nesidiolastosis, who presented at our clinic between April 1992 and June 2010. Clinicopathological features were studied retrospectively. PETs were classified as benign, uncertain malignant, well differentiated carcinoma, or poorly differentiated carcinomas by the WHO classification. For statistical analysis, Student's t-test, the Chi-square test, and the Kaplan-Meier method were utilized. RESULTS: Nine cases were FTs and twenty one cases were NFTs. The average size of the FTs was smaller than that of the NFTs (1.71 vs 4.33, p=0.04). The head of the pancreas was most commonly involved (33.3% of FTs; 47.6% of NFTs) but the locations of the tumors were not different. Insulinoma was the most common (66.7%, 6/9) among FTs. The incidence of malignant tumors was 33.3% and 55.0% among, respectively, FTs and NFTs. The 5-year disease-free survival rate of patients with benign PETs (FTs and NFTs), and of patients with functioning well-differentiated carcinomas was 100%. However, the 5-year disease-free survival rates of patients with nonfunctioning well- and poorly-differentiated carcinomas were 66.7% and 0%. CONCLUSION: Among patients with Pancreatic Neuroendocrine Tumors, malignant tumors are more common among NFTs than FTs. Poorly-differentiated carcinomas have a worse prognosis while all FTs regardless of their WHO classification fail to show any disease recurrence.
Disease-Free Survival ; Head ; Heredity ; Humans ; Incidence ; Insulinoma ; Neoplasm Staging ; Neuroendocrine Tumors ; Pancreas ; Prognosis ; Recurrence ; Retrospective Studies

Recently the adenomaatous polyposis coli(APC) gene, a tumor suppressor gene, was identified and the cDNA was cloned from chromosome 5q21. Allelic deletion or point mutation of tumor suppressor genes(TSGs) has been considered as an important mechanism in development of human tumor. Point mutations affecting APC gene are seen in the hereditary syndrome, adenomatous polyposis and spordic colon cancer. However, the mutation of APC gene and other TSGs have not been described in gastric cancer. In order to identify the mutation of exon 11 of APC gene for gastric cancer, we amplified DNA extracted from paraffin-embedded tissues by polymerase chain reaction(PCR) and digested the PCR products with restriction enzyme Rsa I. We examined the DNA extracted from paraffin-embedded 44 gastric cancer tissues with lymph nodes. Eighteen(41%) among 44 were informative for the study exon 11 of the APC gene, and we found loss of heterozygosity(LOH) for APC in 6/18(33.3%). These data suggest that the point mutation or the base change of APC gene commonly occurs in gastric cancer. We conclude that the mutation of APC gene is strongly connected with development of human gastric cancer.
Humans ; Genes, Tumor Suppressor ; Stomach Neoplasms

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