Objective: To study the clinical characteristics of dopa responsive dystonia (DRD),providing data for earlier diagnosis and treatment. Methods: Three cases of DRD patients from the same family were studied through their clinical data, laboratory investigations and therapeutic effects. Results: Two males and one female were the same generation. The age of onset remembered was about 10 years. The symptoms were insidiously progressive. Clinical features were extrapyramidal presentations such as fast words speed, limbs stiffness and involuntary movements. All 3 patients had leadtube muscle rigidity, exaggerated tendon reflexes; Two patients had feet deformity. Babinski signs were absent.CT, MRI, serum muscular enzymes and EMG, etc . were normal. Madopa,0.125 0.375 g, daily was effective with the longest treatment period for nearly 30 years and no obvious side effects found. Conclusion: The incidence of DRD is rare with specific presentations, early diagnosis and treatment may achieve better results.

Objective: To study the effect of bifidobacterium-supplemented enteral nutrition in early postoperative patients with gastric cancer. Methods: 60 patients with gastric cancer were divided into two groups: bifidobacterium-supplemented enteral nutrition(BSEN-group, 30 cases), popular enteral nutrition group(EN-group,30 cases). The patients were infused with Nutrison Fibre or bifidobacterium-supplemented Nutrison Fibre for 7 postoperative days. Results: Bifidobacterium-supplemented enteral nutrient was well tolerated. The incidence of infections was significantly lower (P = 0.01) in BSEN-group than in EN-group. Conclusion: Early postoperative enteral nutrition plus bifidobacterium can reduce the rate of postoperative infections in comparison with popular enteral nutrition.

OBJECTIVETo observe trinucleotide repeat number, (CTG)n in the 3'-untranslated region of the myotonic protein kinase (MTPK) gene in a clinically suspected woman with myotonic dystrophy (DM) family history and her abortus, in order to confirm the necessity of exerting antenatal examination in patients or suspected individuals with DM family history.

METHODSLong Expand Template polymerase chain reaction (PCR) system was used to analyze CTG trinucleotide repeat numbers located in the 3' untranslated region of MTPK on chromosome 19q13.2-3 in both peripheral white cells and muscles of the suspected mother and the other two DM patients in the family. The tissues of her abortus and blood of a health woman were detected, too.

RESULTSCTG repeats in both peripheral white cells and muscles of the suspected mother and the tissue of abortus were higher than normal range of CTG repeat number. There is no significant difference between blood and muscle samples. High CTG repeats were detected in blood and muscles of the typical DM members in the family, but in the blood sample of control, CTG repeats is normal.

CONCLUSIONCTG trinucleotide analyses and antenatal examination should be done in pregnant with a DM family history, in order to reduce the birth rate of DM offspring.

Adult ; DNA ; analysis ; Female ; Fetus ; metabolism ; Humans ; Myotonic Dystrophy ; diagnosis ; genetics ; Prenatal Diagnosis ; Trinucleotide Repeats