ABSTRACT
Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited in an autosomal dominant pattern. DRPLA has been shown to be associated with expansion of an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12p. We evaluated a family with DRPLA that affected three members; A 35-year-old female presented with seven year history of gait ataxia, dysarthria and mild cognitive impairment. The MRI of the brain revealed diffuse cerebellar atrophy with an incidental lipoma in the midbrain. Her 30-year-old brother presented with progressive cerebellar ataxia that developed at the age of 20. Her grandmother and mother were reported to have developed ataxia during the late period of their life, and died at the age of 60 and 55, respectively. The demonstration of an expanded CAG repeat in the gene for DRPLA was used to confirm the diagnosis.
Subject(s)
Adult , Female , Humans , Ataxia , Atrophy , Brain , Cerebellar Ataxia , Diagnosis , Dysarthria , Gait Ataxia , Genes, vif , Lipoma , Magnetic Resonance Imaging , Mesencephalon , Cognitive Dysfunction , Mothers , Neurodegenerative Diseases , Siblings , Trinucleotide RepeatsABSTRACT
OBJECTIVE: This study was performed to evaluate the clinical utility of transabdominal prophylactic amnioinfusion on oligohydroamnios caused by preterm premature rupture of membrane(PPROM). METHODS: There were 59 singleton pregnant women with oligohydroamnios caused by PPROM who were treated by transabdominal amnioinfusion at the department of from March 1997 to December 1998. Nineteen pregnant women who underwent prophylactic amnioinfusion were designated as study group and 40 pregnant women who did not undergo prophylactic amnioinfusion were designated as control group. Clinical data were drawn from medical records, such as time interval from amnioinfusion to deliver, birth weight, incidence of variable deceleration, Apgar score at 1 minute, Apgar score at 5 minutes, and so on. Statistical analyses were performed by means of Student t test, Mann Whitney U-test, Fisher's exact test where appropriate. P value below 0.05 was considered significant. RESULTS: The median interval from amnioinfusion to delivery w as longer in study group than in control group (13.0 29.3 days vs. 5.0 13.0 days, p<0.05). The incidence of variable deceleration during labor in study group was 16% and that in control group was 43%(p<0.05). The incidence of Apgar score at 5 minutes below 7 was lower in study group than that in control group(39% vs. 43%, p<0.05). The incidence of respiratory distress syndrome was lower in study group than that in control group(16% vs. 83%, p=0.05) However, there were no significant difference in the incidence of respiratory distress syndrome between them who did not undergo dexamethasone treatment, in mode of delivery, birth weight, and incidence of chorioamnionitis between two groups. CONCLUSION: Transabdominal prophylactic amnioinfusion may have a positive role in the management of PPROM.
Subject(s)
Female , Humans , Pregnancy , Apgar Score , Birth Weight , Chorioamnionitis , Deceleration , Dexamethasone , Incidence , Medical Records , Pregnant Women , RuptureABSTRACT
We present a case of in-utero treatment of posterior urethral valve syndrome(PUVS) by vesicoamniotic shunting. The shunt was established by basket-shaped catheter at the 22 weeks' gestation. Enlarged bladder and hydronephrosis were improved after the shunt procedure. The baby was delivered at the 39 weeks' gestation and had normal serum range of BUN and creatinine. Because the outer opening of catheter was burried under abdominal skin on the day before delivery, posterior urethral valve excision and basket removal through urethra were operated by endoscopy on the 2nd day of birth. The baby has been followed up for 5 months and in good health. We report this case with a brief review of literature. Shunt operation in-utero is considered as a safe and effective therapy for lower urinary tract obstruction caused by PUVS.
Subject(s)
Pregnancy , Catheters , Creatinine , Endoscopy , Fetal Therapies , Hydronephrosis , Parturition , Skin , Urethra , Urinary Bladder , Urinary TractABSTRACT
No abstract available.
ABSTRACT
Since the histocompatibility was discovered, we have studied and determined many HLA types till the last workshop held in Los Angeles, USA, 1980. Nowadays we apply HLA types to organ transplantation, transfusion of blood, identification of paternity, study of ethnology and diagnosis of a specific disease. In the present study, 20 cases of bronchial asthma and 15 atopic dermatitis patients were selected. HLA types, serum IgE values and eosinophil count were analized and the data were compared with that of control group. The results were as follows: 1) Eosinophilia appeared in both bronchial asthma and atopic dermatitis 50% and 20% respectively. 2) The P-Values between the mean of serum IgE of bronchial asthma and control and atopic dermatitis and control were P<0.01 and P<0.05 respectively, which were statistically significant. 3) HLA type shows no statitically significant relationship between control group and bronchial asthma and atopic dermatitis.
Subject(s)
Humans , Asthma , Dermatitis, Atopic , Diagnosis , Education , Eosinophilia , Eosinophils , Ethnology , Histocompatibility , Immunoglobulin E , Organ Transplantation , Paternity , TransplantsABSTRACT
Since the histocompatibility was discovered, we have studied and determined many HLA types till the last workshop held in Los Angeles, USA, 1980. Nowadays we apply HLA types to organ transplantation, transfusion of blood, identification of paternity, study of ethnology and diagnosis of a specific disease. In the present study, 20 cases of bronchial asthma and 15 atopic dermatitis patients were selected. HLA types, serum IgE values and eosinophil count were analized and the data were compared with that of control group. The results were as follows: 1) Eosinophilia appeared in both bronchial asthma and atopic dermatitis 50% and 20% respectively. 2) The P-Values between the mean of serum IgE of bronchial asthma and control and atopic dermatitis and control were P<0.01 and P<0.05 respectively, which were statistically significant. 3) HLA type shows no statitically significant relationship between control group and bronchial asthma and atopic dermatitis.