Lack of correlation between free erythrocyte porphyrin and serum ferritin values at birth and at 2 months of life in low birthweight infants

Red cell free erythrocyte porphyrin and serum ferritin determinations were performed on capillary blood specimens from 63 healthy infants weighing 2500 g or less at birth, during the first week of life, and, from 44 of them, again at 8-10 weeks. Free erythrocyte porphyrin values were high both at 3-7 days (mean 156 microgram/100 ml RBC) and at 8-10 weeks (mean 128 microgram/100 ml RBC). The respective serum ferritin values were also high (mean 226 and 107 ng/ml), excluding a depletion in iron stores. In addition, no correlation was found between free erythrocyte porphyrin and serum ferritin values either at birth or at age 2 months. These findings are consistent with an earlier hypothesis that in the presence of iron stores, the rate of iron release from the stores in low birthweight infants may not be sufficient to maintain optimal erythropoiesis if the demand is accelerated.     

Iron balance and iron nutrition in infancy

At birth, the total body iron content is approximately 75 mg/kg, twice that of an adult man in relation to weight. During the first 6 mo of life, total iron body content increases slightly and exclusive breastfeeding is sufficient to maintain an optimal iron balance. Thereafter, iron body content substantially increases and the infant becomes critically dependent on dietary iron, provided by complementary foods. Numerous factors may contribute to nutritional iron deficiency in infancy, the most important being low body iron content at birth, blood loss, high postnatal growth rate, and a low amount and/or bioavailability of dietary iron. We have documented that the prevalence of iron deficiency declined in Italy as iron nutrition improved and that early feeding on fresh cow's milk is the single most important determinant of iron deficiency in infancy. Healthy full-term infants should maintain optimal iron balance by consuming a good diet, which can be summarized as follows: breastfeeding should be continued exclusively for at least 5 mo and then together with complementary foods containing highly bioavailable iron; infants who are not breastfed or are partially breastfed should receive an iron-fortified formula, containing between 4.0 and 8.0mg/L iron, from birth to 12 mo of age; fresh cow's milk should be avoided before 12 mo of age.     

Apolipoprotein E polymorphism and breast carcinoma: correlation with cell proliferation indices and clinical outcome

There is preliminary evidence that polymorphism of apolipoprotein E (apoE, protein; APOE, gene), one of the key regulatory proteins in cholesterol metabolism, influences the pathobiology of carcinoma of the colon, prostate and breast and also primary tumours of the brain. This study was designed to determine whether APOE polymorphism is related to variation in the rate of tumour cell proliferation and clinical outcome in carcinoma of the breast. One hundred and eleven infiltrating ductal carcinomas, for which follow up data were available, were included in the study. Estrogen and progesterone receptor status (ER, PR) cell proliferation index (MIB-1) and APOE genotypes were determined from paraffin-embedded tissue by standard methods. Positive correlations were found between grade and tumour size, grade and presence of metastasis, grade and MIB-1 expression, as well as between ER and PR. Survival correlated inversely with tumour size and the presence of positive lymph nodes. Both steroid receptors correlated inversely with MIB-1 expression. PR positive status also correlated inversely with high histological grade and presence of lymph node metastases. APOE allele frequencies resembled those of the general population. No significant associations were found between possession of either APOE 2 or 4 alleles and the parameters investigated. Although there is evidence to suggest that APOE 4 may predispose to the development of carcinoma of the breast our data do not support the hypothesis that APOE genotype influences the rate of tumour cell proliferation or the clinical course.     

Bowel habits of healthy Australian children aged 0-2 years

Objective : To define the bowel habits of healthy Australian children aged up to 2 years.
Methodology : One hundred and forty children were recruited in six age categories with a minimum of 20 children per category. Data on bowel habit was recorded by parents daily for 1 week.
Results : Stool frequency decreased with age. Ninety-five percent of infants 0-14 days passed more than two stools per day compared with 21% at age 13-24 months. Breastfed infants passed more frequent and looser stools than children fed infant formula and solids and also showed a wider variation in frequency.
Conclusions : Mean stool frequency decreased with age as did the variation. This is a combined effect of age and feed type. These data can be used as a guide to the bowel habit of healthy Australian children.     

血管恶性肿瘤：血管肉瘤、血管内皮瘤、血管外皮瘤

起源于血管的肉瘤并不常见，包括血管肉瘤、血管内皮瘤、血管外皮瘤。该文综述上述3种肉瘤的处理方法。诊断有时非常困难，孤立性纤维瘤和血管外皮瘤的诊断还存在争论。这些肉瘤的每一亚类都有其独特的临床特点。治疗方法主要是手术切除．有时结合放疗，辅助化疗的效果不确切，但可尝试，化疗对少数晚期患者可产生良好效果。     

Guidelines for the management of HIV infection in pregnant women and the prevention of mother-to-child transmission

Aims of the guidelines These guidelines, drawn up by a multidisciplinary group of clinicians and lay workers active in the management of pregnant women infected with HIV, aim to give up-to-date information on interventions to reduce the risk of mother to child transmission of the virus. The evidence on the use of interventions to prevent mother to child transmission of HIV has been graded according to the strength of the data as per the definitions of the US Agency for Health Care Policy and Research [ 1 ]. Weighted evidence on the use of combination antiretroviral therapy (ART) for the treatment of HIV infection per se is presented in the BHIVA guidelines for adults [ 2,3 ]. The highest level evidence (i.e. randomised controlled trials (RCTs) or large, well conducted meta-analyses) is only available for formula feeding, prelabour caesarean section and zidovudine monotherapy. The need to treat mothers for HIV infection has led to the widespread use of ART in pregnancy which in turn results in new questions such as how to deliver when the mother, on therapy, has no detectable plasma viraemia with the most sensitive assays. In addressing many common and/or difficult clinical scenarios in the absence of 'best evidence' the guidelines rely heavily on 'expert opinion'.
Recommendations for management are given in the section on clinical scenarios, and summarized in Table 3. An expanded version of these guidelines with an appendix on safety and toxicity data is available on the BHIVA website http://www.bhiva.org . The authors are available to discuss individual cases.     

The PHE64LEU Variant Of TTR Is Associated With A Late-Onset Form Of Familial Amyloidotic Polyneuropathy Dominated By Motor Involvement

Autosomal dominant Familial Amyloidotic polyneuropathy (FAP) is caused by mutations of transthyretin (TTR). The prototype is the “Portoguese” Val30Met variant characterized by a length dependent sensory-motor and autonomic neuropathy with onset in the third-fourth decade; it affects mostly the unmyelinated and small myelinated nerve fibers with deposits of TTR-amyloid in the endo- and epineurium. Sensory or autonomic neuropathy is the first manifestation. Carpal tunnel syndrome (CTS), cardiac, renal, and ocular involvement may occur variably leading to phenotypic heterogeneity. In two unrelated Italian pedigrees originating from Apulia and Sicily we identified the Phe64Leu variant. In both pedigrees, the disorder manifested in the sixth-seventh decade with weakness of hand/leg muscles and dysesthesias in the extremities; generalized weakness and atrophy were prevalent in the distal muscles and became rapidly disabling; fasciculations were prominent, affecting also the tongue in one case with dysarthria and dysphagia. Late symptoms/signs included weight loss, impairment of thermal, pain and position sense, intractable diarrhea and vomiting. Initial diagnoses had been various: CTS, Charcot-Marie-Tooth disease, Chronic Inflammatory Demyelinating Polyneuropathy. In the two probands a nerve biopsy disclosed severe loss of myelinated fibers with scattered distribution, few Wallerian degenerations and diffuse loss of unmyelinated fibers, without evidence of amyloid deposition. Phe64Leu had been reported in two other pedigrees of Italian origin associated with a similar clinical and pathological phenotype (Ferlini A et al., Clin Genet 1996); that raises the possibility of a “founder effect.” Analysis of informative polymorphisms at nucleotide positions 2422, 2537, 5610 and 5708 of the TTR gene disclosed in the identified pedigrees a common haplotype associated with Phe64Leu (haplotype II), suggesting that the mutation might actually have occurred once and then spread in different geographical areas.