妊娠糖尿病妇女使用门冬胰岛素或常规人胰岛素在疗效、安全性方面的比较

在一项随机、平行分组的开放试验中，27例妊娠糖尿病妇女（年龄30．7±6．3岁，HbA1c〈7％）随机分为门冬胰岛素治疗组（餐前5分钟注射）和常规人胰岛素治疗组（餐前30分钟注射）。试验时间为从诊断妊娠糖尿病（18～28周）至产后6周。研究期间两组的总体血糖水平均控制良好（试验开始和结束时HbA1c≤6％）。进餐试验时，试验6周时的平均血糖水平（门冬胰岛素组4．2±0．57mmol／L，常规人胰岛素组4．8±0．86mmol／L）略低于试验0周时（门冬胰岛素组4．9±0．59mmol／L，常规人胰岛素组5．1±0．36mmol／L）。     

Visual acuity and visual field development after cryocoagulation in infants with retinopathy of prematurity

Visual development was studied in 10 very-low-birth-weight infants (less than 1500 g) with retinopathy of prematurity (ROP) stage 3+ who had been treated with cryocoagulation in both eyes. Binocular visual acuity (acuity cards method) and binocular visual fields (kinetic perimetry) were assessed repeatedly in the first year of life. At 12 months corrected age, visual acuity was normal in seven and impaired in three infants, who appeared to be severely myopic. Normal visual fields were found in eight infants at this age. The results indicate that cryotherapy in cases of ROP stage 3+ does not interfere with visual acuity development. The effect on visual field development needs further investigation.     

Hemochromatosis--neonatal and young subjects

Juvenile hemochromatosis (JH) is an autosomal recessive disease causing iron overload before age 30 in both sexes. JH is characterised by hypogonadism, growth retardation and cardiomyopathy. Linkage of JH to chromosome lq is established in pedigrees throughout Europe. Studies of 29 patients in 20 families of diverse ethnic origin confirm early-onset iron overload. Neonatal hemochromatosis (NH) is a syndrome of unknown origin characterized by congenital cirrhosis or fulminant hepatitis with hepatic and extra-hepatic iron deposits. We assessed 40 infants from 27 families and identified 3 patterns of disease transmission. In 12 of the 27 there was >1 affected infant and in 5 families all infants were affected by NH. In 19 families unaffected children were also born. In 4 families there was bacterial or viral maternal infection associated with NH. In two families, antibodies to DNA or ribonuclear proteins were identified. In 12 families, unaffected children were born to the same parents in the absence of maternal antibodies or infection and without indications of maternal transmission. Consanguinity was observed in 1 family with 4 affected offspring (1 stillbirth + 3 neonatal deaths). Sequence analysis of HFE, beta2M, and both human heme oxygenase genes failed to identify any causal mutations in nuclear NH families but our study points to the existence of a cohort of patients likely to suffer from an autosomal recessive trait. A genome wide scanning study is underway to identify the putative locus.     

No evidence of mutations in the CACNA1S gene in the UK malignant hyperthermia population

Background. Malignant hyperthermia (MH) is an inherited, potentiallyfatal, pharmocogenetic disorder triggered by certain anaestheticagents. In light of the reported genetic heterogeneity for thedisorder and the recent introduction of DNA testing guidelinesfor the trait, we have assessed the role of the CACNA1S genein MH susceptibility in UK patients. Linkage to this locus haspreviously been demonstrated in several European MH families. Methods and results. We screened 200 unrelated MH-susceptibleindividuals for known CACNA1S mutations. With the aim to characterizefurther novel mutations at this locus, functionally relevantregions of the gene were also sequenced in 10 unrelated individualsfrom families where the involvement of other MH susceptibilityloci was unlikely. No sequence variations were detected in anyof the patients investigated. Conclusions. Defects in CACNA1S are not a major cause of MHin the UK population. Diagnostic screening of this gene is unlikelyto be of value to UK MH patients in the near future. Br J Anaesth 2002; 88: 587–9     

金龙胶囊配合辨证用药治疗中晚期恶性肿瘤40例

1临床资料2003-12/2004-10采用北京建生药业生产的金龙胶囊配合辨证用药治疗中晚期癌症40例.Karnofsky评分≥40分,预计生存期>2 mo.     

Features of transient hypogammaglobulinaemia in infants screened for immunological abnormalities

The incidence of transient hypogammaglobulinaemia of infancy (THI) detected in a major paediatric centre over a 10 year period was examined. A total of 2468 subjects less than 2 years of age had an IgG measurement taken between July 1979 and March 1990. Subjects with known immunodeficiencies were excluded. Fifteen patients were classified as having THI with an initial IgG level less than the fifth centile followed by a second measurement within the normal range. A further 24 patients were identified as having possible THI with a single low IgG concentration. There were 60,174 live births each year in Victoria in the years 1979-88. This gives an incidence of proved THI of 23 per 10(6) births, and including proved and probable THI an incidence of 61 per 10(6) live births. Of those patients with proved THI 12/15 had symptoms of either atopic disease or food allergy/intolerance and three had gastrointestinal symptoms without any evidence of atopic disease. At presentation 12/15 (80%) were IgA deficient and 9/15 had IgM concentrations less than the 20th centile for age. It is suggested that in view of the preponderance of atopic and food intolerant patients that subclinical protein loss from the bowel due to allergic inflammation may be a contributing factor to the development of THI in some patients.     

Elderly Patients with Suppressed Serum TSH but Normal Free Thyroid Hormone Levels Usually Have Mild Thyroid Overactivity and are at Increased Risk of Developing Overt Hyperthyroidism

The clinical and biochemical characteristics of 15 elderly patientswith low levels of thyrotrophin (TSH) (<0.1 mU/L) but normalfree tri-iodothyronine, (T3) and free thyroxine (T4) (groupS) were compared with 10 euthyroid subjects (group E) and 10hyperthyroid patients (group T). Free T3 and free T4 were significantlyhigher (p<0.05) in group S(6.3±0.5 and 18.6±1.0pmol/l, respectively) than in group E(4.6±0.3, 12.6+0.6).In common with elderly hyperthyroid patients (group T)patientsin group S had few signs or symptoms of thyrotoxocosis, butthe Wayne score (clinical index of hyperthyroidism) was higherin group S than in euthyroid subjects (p<0.05). Thyroid microsomal,thyrogolobulin or thyrotrophin receptor antibodies were commonin group T (n=9)but not in groups S(n=2) or E(n=1). This suggestsa low prevalence of Graves' disease in group S compared to groupT. Combined thyrotrophin releasing hormone (TRH; 200 µgi.v.) and gonadotrophin releasing hormone GnRH; 100 µgi.v.) tests were performed; no cases of low TSH due to hypopituitarismwere identified in group S. During a mean of 7.9 (4–12)months of observation TSH reverted to the normal range (>0.2mU/L)in 7 of 15 patients in group S; thyroid hormone concentrationsrose above the normal range in four, however, only two patientsrequired treatment for hyperthyroidism. It is unlikely thatthe suppressed TSH of patients in group S was due to mild thyroidhormone excess; although this is often a transitory phenomenon,these patients are at increased risk of developing overt hyperthyroidism.