Characterization of a spontaneous mutation in beta-thalassemia associated with advanced paternal age

We characterized the molecular defect in a Swiss patient with a spontaneous beta-thalassemia mutation. Cloning and DNA sequencing of her beta-globin gene revealed a new frameshift mutation due to a single nucleotide deletion at codon 64 of the beta-globin gene. Restriction site polymorphism showed that the mutation arose on her paternal chromosome. Direct sequencing of a polymerase chain reaction amplified DNA segment showed absence of the lesion in both alleles of her father's beta-globin gene and confirmed the spontaneous nature of this mutation.     

Prognostic factors and therapeutic options of radiotherapy in pediatric brain stem gliomas

BACKGROUND: A retrospective analysis was made to clarify the relationship between prognosis, radiation dose and survival of brain stem gliomas. METHODS: From 1983 to 1995, 22 children with brain stem tumors were treated by radiotherapy in the Veterans General Hospital-Taipei. Twelve patients had pathology proof and the remainder were diagnosed by computerized tomography and/or magnetic resonance imaging. Seven patients had postoperative radiotherapy. Fifteen patients had radiotherapy as primary management, five of whom had adjuvant chemotherapy. All patients received 4000-7060 cGy, either in conventional daily or hyperfractionated twice daily radiotherapy. Survival from date of diagnosis was calculated by the Kaplan-Meier method. Univariate analyses and multivariate analyses were calculated by the log rank test and the Cox proportional hazard model, respectively. RESULTS: Most patients showed improvement following treatment. The overall 2-year survival rate was 55.5% with a median survival of 27.1 months. Two-year survival for patients with primary management of operation and radiotherapy (n = 7), radiotherapy alone (n = 10) and radiotherapy with adjuvant chemotherapy (n = 5) were 66.7, 50 and 53.3%, respectively. In univariate analysis, the study revealed that the growth pattern of tumors and the simultaneous presence of cranial neuropathy and long tract sign were significant prognostic factors (P = 0.017 and 0.036). A trend of better outcome with radiation dose > 6600 cGy and the hyperfractionation scheme was also noted in our study (P = 0.0573 and 0.0615). However, only the hyperfractionation scheme was also noted in our study (P = 0.0573 and 0.0615). However, only the hyperfractionation scheme showed significance in multivariate analyses (P = 0.0355). Survival was not significantly affected by age, gender or method of diagnosis. CONCLUSION: Radiotherapy appears to be an effective treatment modality of brain stem tumors. Patients with both cranial neuropathy and long tract signs had a poorer outcome. Hyperfractionated radiotherapy may give better local control and lead to better survival.      

Evaluation of a maize-cowpea-palm oil diet for the dietary management of Nigerian children with acute, watery diarrhea

A randomized clinical trial was carried out to compare a locally available maize-cowpea-palm oil diet (group MCP) with a commercially produced lactose-free, soy protein isolate formula (group SF) for the dietary management of 69 Nigerian boys, 6–24 months of age, hospitalized for acute, watery diarrhea. Although the treatment groups were generally similar initially, the children in group SF had slightly lower mean weight-for-age z scores ( p = O.OS), lower serum bicarbonate levels ( p = 0.04) and greater stool outputs during the period of rehydration before the diets were initiated ( p = 0.01). Rates of treatment failure in group MCP (5.7%) and group SF (8.8%) were similar ( p = 0.67). There were no significant differences in the adjusted mean stool outputs by study group on days 1–5, but the children in group SF had slightly lower fecal weights on day 6 ( p = 0.05). Children in group MCP had a substantially reduced duration of liquid stool excretion (estimated median duration 42 h versus 140 h; p < 0.001). On the other hand, children in group SF consumed considerably more of their diet, had greater net absorption of macronutrients and greater rates of weight gain than those in group MCP. We conclude that children can safely consume the MCP diet during acute, watery diarrhea without increasing their risk of treatment failure or augmenting stool output. However, the diet may not be adequate as a sole source of nutrients beyond the period of acute illness.     

HLA-B27 associated arthropathies

The association between histo-compatibility antigens and disease is reviewed, in particular that between HLA-B27 and spondylitic disorders, i.e., ankylosing spondylitis, Reiter's arthritis, psoriatic arthritis, and ankylosing hyperostosis. We determined whether the presence of HLA-B27 predicted specific radiographic findings and, conversely, whether specific radiographic changes predicted antigenic status. The prevalences of the HLA-B27 antigen in our patients were: ankylosing spondylitis, 100%; Reiter's arthritis, 93%; psoriatic arthritis, 55%; and ankylosing hyperostosis, 12%. The only specific radiographic finding associated with B27 positivity was severe spondylitis in psoriasis.     

对闭塞冠状动脉使用链激酶和组织型纤溶酶原激活物的全球性研究 GUSTO—Ⅰ（亚组研究）

治疗方案a.①60min内静脉滴注150万U链激酶,及皮下注射肝素12 500 U,每日 2次;②60min内静脉滴注150万U链激酶及静脉使用肝素(注射     

Advances in local and ablative treatment of oligometastasis in prostate cancer

Oligometastasis is a state of limited metastatic disease that may be amenable to aggressive local therapy to achieve long‐term survival. This review aims to explore the role of ablative radiotherapy and surgical management of prostate cancer (CaP) patients with oligometastasis. We performed a systematic review of the literature from November 2003 to November 2013 in the PubMed and EMBASE databases using structured search terms. From our literature search, we identified 13 cases of oligometastatic CaP managed by surgery. The longest disease‐free survival documented was 12 years following pulmonary metastasectomy. We also found 12 studies using radiotherapy to treat oligometastatic CaP with median follow‐up ranging from 6 to 43 months. Local control rates and overall survival at 3 years range from 66 to 90% and from 54 to 92%, respectively. Most patients did not report any significant toxicity. The limited current literature suggests oligometastatic CaP may be amenable to more aggressive local ablative therapy to achieve prolonged local control and delay to androgen deprivation therapy (ADT). There is a larger body of evidence supporting the use of radiotherapy than surgery in this disease state. However, no direct comparison with ADT is available to suggest an improvement in overall survival. Further studies are required to determine the role of aggressive‐targeted local therapy in oligometastatic CaP.     

Effects of Ficus Thonningii Extracts on the Gastrointestinal Tract and Clinical Biochemistry of Suckling Rats

Background

Ficus thonningii is commonly used in traditional medicine across the African continent. We investigated the effects of crude Ficus thonningii extracts on growth, morphology and morphometry of the abdominal viscera and clinical biochemistry of neonatal rats.

Materials and Methods

Forty, 6-day old Sprague Dawley rat pups were orally gavaged once daily with either low (50 mg.kg⁻¹ b.w) or high (500 mg.kg⁻¹ b.w) doses of aqueous or methanolic F. thonningii leaf extracts while the control received distilled water. After 7 days of treatment, the pups were euthanased and gross morphometric measurements of the abdominal visceral organs were recorded. Samples of the liver, caecum and proximal small intestine were processed for histology. Plasma biochemical parameters were analysed colorimetrically.

Results

High methanolic doses of F. thonningii extracts exhibited trophic effects on the stomach while both aqueous and methanolic extracts had trophic effects on the ceacal mucosa of rats. No significant growth-promoting effects were observed in other visceral organs. Histological analysis revealed no mucosal damage or necrosis. Clinical biochemistry parameters were not abnormally altered. There was a significant decrease (p<0.05, ANOVA) in the plasma concentration of non-fasting glucose in the high methanolic group but triglycerides and cholesterol were unaltered.

Conclusion

The findings suggest that at low doses, F. thonningii extracts can be safely used without the risk of any disruption in the structural integrity of the neonatal rat GIT and function of the liver and kidneys.