No abstract available.
Congenital Abnormalities* ; Head*

No abstract available.
Adolescent* ; Female* ; Humans

The Machado Joseph disease(MJD) is a progressive neurodegenerative disease with an autosomal dominant inheritance. Patients affected by MJD may present variable combinations of cerebellar ataxia, ophthalmoplegia, pyramidal tract signs, extrapyramidal signs, and peripheral neuropathy. Once, MJD was thought to be limited to the Portuguese from Azores islands, However, since the association of expanded CAG trinucleotide repeat in chromosome 14q32.1 was identified in the MJD, the genetic study has enabled clinicians to make accurate diagnosis and the patients with MJD have been reported in the families from many different races. We report members of a family, presenting with variable combinations of gait ataxia, dysarthria, ophthalmoplegia, pyramidal and extrapyramidal signs. We performed a genetic study in 3 clinically affected and 4 asymptomatic family members. Five of the seven had abnormally expanded CAG repeat number (range 71-84) on the long arm of chromosome 14, compatible with MJD.
Arm ; Azores ; Cerebellar Ataxia ; Chromosomes, Human, Pair 14 ; Continental Population Groups ; Diagnosis ; Dysarthria ; Gait Ataxia ; Humans ; Islands ; Machado-Joseph Disease* ; Neurodegenerative Diseases ; Ophthalmoplegia ; Peripheral Nervous System Diseases ; Pyramidal Tracts ; Trinucleotide Repeats ; Wills

Pfeiffer syndrome, an unusual type of acrocephalosyndactyly, is a complex of associated malformations, first described by Pfeiffer in 1964. In addition to the common head and face anomalies seen in other acrocephalosyndactylies, its characteristics are broad thumbs and big toes, minimal syndactyly and normal intelligence. It is inherited in autosomal dominant pattern and shows various clinical features. The author's case was a 7-year old boy, who had been managed since birth for bilateral congenital resistant clubfeet including cast correction for six months and two operations. At present he represents not only the common features described above but also some unique features, e.g. pectus excavatum, posterior dislocation of both elbows, mild genu valgum, metatarsus adductus and complex malalignment of carpal and tarsal bones. To our knowledge, there is no report on Pfeiffer syndrome in Korea. The authors report a case of Pfeiffer syndrome with review of literatures.
Acrocephalosyndactylia ; Dislocations ; Elbow ; Funnel Chest ; Genu Valgum ; Head ; Humans ; Intelligence ; Korea ; Male ; Metatarsus ; Parturition ; Syndactyly ; Tarsal Bones ; Thumb ; Toes

Ilizarov device is a circular external skeletal fixator with crossed transfixation wires and connecting rods. Its stability depends on the tension in the wire and the spatial orientation of the fixator frame. It provides extreme versatility for correction of three dimensional complex deformities including angulation, rotation, shortening and translation. In an attempt to identify the various factors that contributed to the outcome and the complications of lengthening, we reviewed the first 19 cases of leg lengthening by the Ilizarov technique in 17 patients with leg length inequality or dwarfism. Simultaneous correction of the three dimensional deformities was also aimed at in 13 patients, and osteosynthesis of congenital pseudarthrosis of the tibia in 2 patients. Follow-up periods averaged 1.6 years, ranging from 1 year to 2.8 years. The results were summarized as follows : 1. The amount of lengthening averaged 5.2cm, ranging from 2.0cm to 9.8cm. 2. The percentage increase was 27%, ranging from 9% to 58%. 3. The average healing index (month/cm) was 1.3months/cm and it was higher in the groups that had premature consolidation, complete osteotomy, single level corticotomy and neurologic compromise as compared with the groups that had adequate corticotomy, double level corticotomy and no neurologic complication. 4. The desired lengthening was obtained in 14 cases. Simultaneous correction of the deformities and osteosynthesis for nonunion were also achieved satisfactorily during lengthening. 5. There were sixteen cases of problems (84%), which were pin tract inflammation (7 cases), Transient senrory change (3 cases), knee joint flexion contracture (2 cases), nut breakage (2 cases). There were thirteen cases of obstacles (68%), which were equinus deformity(5 cases), premature consolidation (3 cases), pathologic fracture (3 cases), and delayed consolidation (2 cases). There was only one ture complication case. In conclusion, the Ilizarov technique was very effective for leg lengthening in children, particularly when three dimensional deformities were combined with leg length shortening. But a thorough knowledge of the Ilizarov technique and meticulous care during lengthening are mandatory to prevent the pitfalls and complications.
Child ; Congenital Abnormalities ; Contracture ; Dwarfism ; Follow-Up Studies ; Fractures, Spontaneous ; Humans ; Ilizarov Technique ; Inflammation ; Knee Joint ; Leg Length Inequality ; Leg ; Nuts ; Osteotomy ; Pseudarthrosis ; Tibia

No abstract available.
Colon* ; Rats, Sprague-Dawley* ; Rectum*

PURPOSE: Metformin is well-established oral hypoglycemic agent for adults and children with type 2 diabetes mellitus. In adults, metformin is effective as initial monotherapy with lack of weight gain. But, its beneficial role on obesity in children is less clearly defined. We assessed the effects of metformin in obese children with type 2 diabetes. METHODS: We evaluated body weight, height, body mass index, fasting blood sugar, HbA1c, lipid profiles in obese 36 children with type 2 diabetes treated with oral hypoglycemic agents at baseline, after 1 year and 2 years of treatment. We divided the subjects into three groups: metformin monotherapy, combination metformin with sulfonylurea, sulfonylurea monotherapy. The changes from baseline in three groups were measured. RESULTS: The decrease in body mass index, blood sugar & HbA1c was observed after treatment with metformin monotherapy group. Metformin monotherapy group after 1 & 2 years of treatment had a greater effect for body mass index (-1.9+/-1.7 kg/m2, -1.5+/-1.6 kg/m2, P<0.05). CONCLUSION: The Metformin monotherapy for obese children with type 2 diabetes improves glycemic control with benefits of significant improvement in body mass index.
Adult ; Blood Glucose ; Body Height ; Body Mass Index ; Body Weight ; Child ; Diabetes Mellitus, Type 2 ; Fasting ; Humans ; Hypoglycemic Agents ; Metformin* ; Obesity ; Weight Gain

Earlier work suggested that Ginseng saponin had an effect on healing of fracture and osteoporosis, hut there has heen no report on saponin effects on cultured osteoblast. The purpose of this study was to investigate the effect of saponin on cultured osteovlast of the mouse. Osteohlastic cells were isolated from periosteum-stripped parietal bones of neonatal rat calvaria, seeded at 4 x 10 4 cells/cm2 density, and cultured in standard medium and deficient medium, with addition of saponin (0(control), 10, 20, 50 microgram/ml concentration). Plating efficiency(adhesiveness), proliferation and the alkaline phosphatase activity of the osteohlasts were evaluated on 2 hours, days 2 and 7 of culture. Saponin was found to enhance the adhesiveness of seeded osteoblasts which were cultured with a deficient medium in comparison to the controls. It promoted cell proliferation of the osteoblasts cultured with a deficient medium in comparison to the controls. There was also a significantly enhanced increase of alkaline phosphatase levels in the presence of saponin during culture with deficient medium in comparison to the controls. In summary, the results showed that the saponin increased adhesiveness, proliferation and the alkaline phosphatase activity of the osteoblast cultured only in deficient medium.
Adhesiveness ; Alkaline Phosphatase ; Animals ; Cell Proliferation ; Mice ; Osteoblasts* ; Osteoporosis ; Panax* ; Parietal Bone ; Rats ; Saponins* ; Skull

BACKGROUND: Recent developments of molecular biological techniques have enabled the identification of genetic abnormalities responsible for the development of familial Parkinson's disease (PD). The alpha-synuclein, a major component of Lewy body in Parkinson's disease and of non-beta-amyloid components of amyloid plaques in Alzheimer's disease, has been identified as one of the factors associated with neurodegenerative diseases. Ala53Thr (G209A) mutation in alpha-synuclein was found in one Italian-American (Contursi) and five unrelated Greek familial PD with autosomal dominant inheritance. Efforts to find the same mutation in many other familial and sporadic PD patients were negative. However, another mutation (Ala30Pro(G88C)) of alpha-synuclein was found in one German person kindred. METHODS: We performed a genetic analysis to search for these two mutations in four unrelated Korean families with PD and 44 sporadic PD and 30 sporadic multisystem atrophy(MSA) patients. RESULTS: We did not find any mutations in the index patients of four families or in sporadic PD and MSA patients. CONCLUSIONS: These findings suggest the possibility that the two identified point mutations do not cause Korean sporadic and familial PD or sporadic MSA. Further evaluation including whole exons associated with the alpha-synuclein gene is needed.
alpha-Synuclein* ; Alzheimer Disease ; Exons ; Humans ; Lewy Bodies ; Neurodegenerative Diseases ; Parkinson Disease* ; Plaque, Amyloid ; Point Mutation* ; Wills

Angiosarcoma is rare malignant neoplasms, which account for less than 1% of all sarcomas. They have a wide distribution in various body organs and tissues: approximately a third of cases occur in the skin and a quarter in soft tissues. Angiosarcoma rarely involves the female reproductive system. We present a case of a 37-yaer-old woman who had primary angiosarcoma of the left breast; With metastases to the spleen and ovary.
Breast ; Female ; Hemangiosarcoma* ; Humans ; Neoplasm Metastasis ; Ovary* ; Sarcoma ; Skin ; Spleen