A case of neonatal diabetes mellitus is described. The child presented with low birth weight but was normal in appearance. She was acidotic and ketonuria was observed. The HLA typing was DR1 and 3, and insulin autoantibodies were negative. Genetic analysis with polymorphic DNA markers for chromosome 6 indicated biparental inheritance. She required insulin therapy for the control of hyperglycemia, and insulin dependence continues after 8 months of age.
Autoantibodies ; Child ; Chromosomes, Human, Pair 6 ; Diabetes Mellitus* ; Genetic Markers ; Histocompatibility Testing ; Humans ; Hyperglycemia ; Infant, Low Birth Weight ; Infant, Newborn ; Insulin ; Ketosis ; Wills

No abstract available.
Coffee* ; Denture Bases* ; Dentures*

The real time high resolution mechanical neurosonographic sector scanner is a convenient and useful instrumentfor detection of intracranial lesions in premature infants as well as low birth weight. From this experience,authors report with 104 neonates and infants who had been suspected intracranial hemorrhage and had been detectedand graded by sonography. The results were as followed: 1. The incidence of intracranial hemorrhage is 20 of 46(43.5%) neonates who had been studied before 3 days of age. But 7 of 16(43.7%) neonates showed ICH between the 4-7days of age. 2. There was no difference of prevalence in sex ratio in neonates with ICH. 3. There was closerelationship between ICH and gestational weeks. 15 of 27 (55.6%) neonates who were born under 32 gestational weeksshowed ICH was graded as 3 or 4 in 7 of 10. 4. 10 of 16(62.5%) neonate who were born under 1,500 gram body weighthad ICH within first 4 days. The severity of ICH was graded as 3 or 4 in 7 of 10. 5. The mode of deliveryinfluenced neonatal ICH incase of difficulty delivery such as forcep(4/4, 100%), vacuum (7/10, 70%), breech (3/3,100%), and C/S(13/33, 39.4%). 6. Incidence of ICH in neonates with pathologica lung conditions (29/40, 72.5%) washigher than ICH with normal chest findins(15/64, 23.4%). 7. For frequent follow up study of brain, neurosonographywas very helpul and economic in case of ICH, and could find congenital glioblastoma multiformed(1), and low gradeastrocytoma(1) incidentally.
Brain ; Follow-Up Studies ; Glioblastoma ; Humans ; Incidence ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Infant, Premature ; Intracranial Hemorrhages ; Lung ; Prevalence ; Sex Ratio ; Thorax ; Vacuum

No abstract available.
Genetic Therapy*

BACKGROUNDS: The molecular genetic characteristcs of cis-AB blood group have shown that its allele had C, G, C and C at nucleotide positions (nps) 526, 703, 796 and 803, respectively. And all cis-AB analysed and reported molecular genetically in Korea and Japan had T at np 467 (leucine at amino acid position 156). We report a first case of cis-AB with C at np 467 (proline at amino acid position 156). METHODS: Genomic DNA was extracted from peripheral blood of cis-AB patient and amplified by DS1/DS2 and DS3/DS4 allele-specific primers. After PCR, we analysed nps 261, 467, 526, 646, 703, 796, and 803 by restriction digestion, autoradiography and automatic sequencing. RESULTS: PCR-RFLP with DS1/DS2 primers and restriction enzyme KpnI showed that cis-AB had an 0 allele. The results of genomic sequencing, autoradiography and restriction digestion showed that cis-AB allele at nps 467, 526, 646, 703, 796 and 803 had C, C, T, G, C and C, respectively. CONCLUSION: This cis-AB showed characteristic molecular genetic features at nps 526, 703, 796, and 803. And this is a first case of A(Pro) cis-AB with C at np 467. (Korean J Blood Transfusion 10(1): 13-19, 1999)
Alleles ; Autoradiography ; Blood Transfusion ; Cytosine* ; Digestion ; DNA ; Humans ; Japan ; Korea ; Molecular Biology* ; Polymerase Chain Reaction

We examined the amyloid deposit in various malignant cutaneous epithelial tumors by using Dylon stain. Histochemically identifiable amyloid deposits associated with basal cell epitheliomas(BCEs), squamous cell carcinomas(SCCs) and Bowens diseases were studied with monoclonal cytokeratin antibodies and anti-amyloid P antibodies. The results were as follaws, l. Amyloid deposits were detected in 5 of 12 BCEs, 4 of 11 SCCs, 3 of 9 Bowens diseases and 1 of 8 actinic keratoses. Amyloid deposits were not detected in o keratoacanthomas, 2 verrucous carcinomas, 1. Pagets disease and 3 extramammary Pagets diseases. 2. Anti-keratin antibody 34BE12 and anti-amyloid P antibody reacted with amyloid deposits in 3 of 5 BCEs which showed abundant amyloid deposits by Dylon stain. 3. Of 4 SCCs which showed amyloid deposits by Dylon stain, anti-keratin ant.ibody 34pE12 reacted with amyloid deposits in 2 cases and anti-amyloid P antibody reacted with amyloid deposits in 3 cases. 4. Anti-amyloid P antibody reacted with arnyloid deposits in 3 of 3 Bowens diseases which showed arnyloid deposits by Dylon stain. Anti-keratin antibody 34pE12 reacted with amyloid deposits only 1 of them. These findings suggest that epidermal keratins are the percursor substance of amyloid in malignant cutaneous epithelial tumors. The difference of antikeratin staining pattern between BCE-associated amyloid and SCC or Bowens disease-associated amyloid may be the results of difference in development stage of cutaneous amyloids.
Amyloid* ; Antibodies ; Carcinoma, Verrucous ; Keratins ; Keratoacanthoma ; Keratosis, Actinic ; Plaque, Amyloid*

Malignant fibrous histiocytoma (MFH) of the heart is a very rare disease. It is difficult to distinguish from myxoma which is most common benign cardiac tumor. Prognosis of malignant fibrous histiocytoma (MFH) of the heart is known to be fatal despite of medical and surgical treatment in contrast to benign tumors. A primary myxoid malignant fibrous histiocytoma of the left atrium was diagnosed in a 58 years old woman. The mass was removed incompletely by operation. The patient did not receive either chemotherapy or radiotherapy. However, the patient is still alive for more than fifteen months after the initial presentation. We report a case of malignant fi brous histiocytoma (MFH) with reviewing the current references.
Drug Therapy ; Echocardiography ; Female ; Heart Atria ; Heart Neoplasms ; Heart* ; Histiocytoma ; Histiocytoma, Malignant Fibrous* ; Humans ; Middle Aged ; Myxoma ; Prognosis ; Radiotherapy ; Rare Diseases

OBJECT: There have been some controversies about the nature of peripheral neuropathy in patients with subacute comblned degeneration. Mayer concluded that the neuropathy was essentially demyelinating. And other reports which were based on pathologic or electrophyslological filldings have been saying axonopathy. We tried to find the nature of perlpheral neuropathy by doing conventional nerve conduction studies in 19 patients with subacute combined degeneration. SUBJECT AND METHOD: We included 19 patients with subacute combined degeneration, who were diagnosed by decreased serum vitamin B12(200pg/ml) and abnormal neurologic symptoms and/or signs. The patients were between 26 and 86 years of age. Eleven of them were male. We performed conventional nerve conduction studies Including H-reflex, When nerve conduction parameters deviated by more than 2SD from the normal mean value, they were consider as abnormal. RESULTS: nerve conduction studies were abnormal in 13/19. 11/13 with abnormal nerve conduction studies showed the pattern of peripheral polyneuropathy. Ten of them showed decreased amplitudes of sensory nerve action potentials or compound nerve action potentials with/wlthout mild slowing of nerve condcution. The abnormalities of the three patients with nerve conduction parameters of demyelinating range were confined to the distal segments of the median nerves. CONCLUSION: We thought that the results of the nerve conduction studies of our cases were compatible with axonopathy rather than demyelinopathy as a principal ]esion of the peripheral nervous system.
Action Potentials ; H-Reflex ; Humans ; Male ; Median Nerve ; Neural Conduction* ; Neurologic Manifestations ; Peripheral Nervous System ; Peripheral Nervous System Diseases ; Polyneuropathies ; Subacute Combined Degeneration ; Vitamins

A clinical observation was made of 14 cases of Wilms' tumor admitted to the Department of Urology, Keimyung University Medical College and Hospital during the period from January 1973 through May 1981. Clinical findings and therapeutic modalities with prognosis are summarized below: 1. The range in age is from 2 months to 11 years, average 3.9 years. 2. Common symptoms are painless palpable abdominal mass, abdominal pain and hematuria. 3. The characteristic urographic findings are as follows: Calyceal distortions in 7 cases, non-visualizing kidney in 3 cases and hydronephrosis in 2 cases. Lung metastases were noted in 5 cases on chest X-ray. 4. Clinical stages according to the National Wilms` Tumor Study criteria are as follows : Stage I in 6 cases. II in 1 case, III in 2 cases and IV in 5 cases. 5. Modalities of treatment are chiefly as follows: Nephrectomy only in 2 cases, Nephrectomy+radiation therapy in 2 cases, Nephrectomy+radiation therapy+single AMD course in 2 cages and Nephrectomy+multiple AMD & VCR course in 6 patients. 6. 2 and 1/2 year survival rates according to the clinical stages are as follows: Stage I 4/4 II 1/1 III 1/2 and IV 1/2. 7. 2 and 1/2 year survival rates according to the age groups are as follows : -2 years 4/4, 2 years - 5 years 0/2, and 5 years -2/3. 8. Side effects of multiple AMD & VCR courses are as follows: Vomiting 4, alopecia 4, leukopenia 2, anemia 1, abdominal pain 1, fever 1, Those were corrected with conservative treatment.
Abdominal Pain ; Alopecia ; Anemia ; Drug Therapy* ; Fever ; Hematuria ; Humans ; Hydronephrosis ; Kidney ; Leukopenia ; Lung ; Neoplasm Metastasis ; Nephrectomy ; Prognosis ; Survival Rate ; Thorax ; Urology ; Vomiting ; Wilms Tumor*

No abstract available.
Keratins*