Minimally invasive technology in the management of breast disease

Minimally invasive surgery is gaining popularity around the world because it achieves the same or even superior results when compared to standard surgery but with less morbidity. Minimally invasive breast surgery is a broad concept encompassing new developments in the field of breast surgery that work on this minimally invasive principle. In this regard, breast-conserving surgery and sentinel lymph node biopsy are good illustrations of this concept. There are three major areas of progress in the minimally invasive management of breast disease. First, percutaneous excisional devices are now available that can replace the surgical excision of breast mass lesions. Second, various ablative treatments are capable of destroying breast cancers in situ instead of surgical excision. Third, mammary ductoscopy provides a new approach to the investigation of mammary duct pathology. Clinical experience and potential applications of these new technologies are reviewed.     

Cardiac Troponin T and Cardiac Dysfunction in Extremely Low-Birth-Weight Infants

Extremely low-birth-weight (ELBW) infants frequently manifest signs of cardiac dysfunction requiring inotropic support. It is not clear if this is due to cardiac injury, which can be monitored by measuring cardiac troponin T (cTnT). We performed a nested prospective cohort study at a university level III neonatal intensive care unit. The study included 27 infants weighing between 500 and 999 g. Exclusion criteria included evidence of sepsis, use of postnatal steroids, and cardiac anomalies. Measurements included serum cTnT and echocardiogram in the first 48 hours of life. The mean serum cTnT level of the study population was 0.52 ± 0.38 ng/ml. It was higher in those with lower Apgar scores (0.89 ± 0.37 if 5-minute Apgar < 4 vs 0.36 ± 0.26 ng/ml, p < 0.001) and correlated to initial base deficit (r = −0.37, p < 0.05). Infants who required inotropic support had higher cTnT levels than those who did not (0.73 ± 0.43 vs 0.39 ± 0.29 ng/ml, p < 0.03). cTnT concentrations did not relate to simultaneous echocardiographic measures of cardiac function. In ELBW infants, serum cTnT levels are higher than normally seen in term infants and adults, and they are higher in infants with greater perinatal stress as well as those who show evidence of cardiac dysfunction requiring pressor support.     

Anti-inflammatory therapy in the neonatal intensive care unit: present and future

Inflammation has been linked to numerous adverse outcomes in newborns. This paper reviews several major sources of inflammation, methods to reduce exposure, current anti-inflammatory drug therapy and future research directions. The first major source of inflammation--chorioamnionitis--is often present long before delivery; postnatal interventions may not alter outcomes. Reducing the exposure of preterm infants to postnatal inflammatory stimuli such as mechanical ventilation and sepsis may be more effective than anti-inflammatory drug therapy in improving outcomes. If anti-inflammatory drug therapy is considered necessary, the only drug currently proven to decrease extubation failure and bronchopulmonary dsyplasia (BPD) is dexamethasone, which is associated with numerous side effects. Erythromycin treatment of Ureaplasma urealyticum has been ineffective in reducing BPD; are trials of azythromycin planned. Research may improve future outcomes by tailoring glucocorticoid dosage, duration and formulation in targeted populations and by developing agents to inhibit specific pro-inflammatory mechanisms.     

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403 amino acid dual specificity phosphatase (protein tyrosine phosphatase; PTPase), was shown recently to play a broad role in human malignancy. Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours. In addition, PTEN was identified as the susceptibility gene for two hamartoma syndromes: Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS) or Ruvalcaba-Riley-Smith syndrome (MIM 153480). Constitutive DNA from 37 CD families and seven BZS families was screened for germline PTEN mutations. PTEN mutations were identified in 30 of 37 (81%) CD families, including missense and nonsense point mutations, deletions, insertions, a deletion/insertion and splice site mutations. These mutations were scattered over the entire length of PTEN , with the exception of the first, fourth and last exons. A 'hot spot' for PTEN mutation in CD was identified in exon 5 that contains the PTPase core motif, with 13 of 30 (43%) CD mutations identified in this exon. Seven of 30 (23%) were within the core motif, the majority (five of seven) of which were missense mutations, possibly pointing to the functional significance of this region. Germline PTEN mutations were identified in four of seven (57%) BZS families studied. Interestingly, none of these mutations was observed in the PTPase core motif. It is also worthy of note that a single nonsense point mutation, R233X, was observed in the germline DNA from two unrelated CD families and one BZS family. Genotype-phenotype studies were not performed on this small group of BZS families. However, genotype-phenotype analysis inthe group of CD families revealed two possible associations worthy of follow-up in independent analyses. The first was an association noted in the group of CD families with breast disease. A correlation was observed between the presence/absence of a PTEN mutation and the type of breast involvement (unaffected versus benign versus malignant). Specifically and more directly, an association was also observed between the presence of a PTEN mutation and malignant breast disease. Secondly, there appeared to be an interdependent association between mutations upstream and within the PTPase core motif, the core motif containing the majority of missense mutations, and the involvement of all major organ systems (central nervous system, thyroid, breast, skin and gastrointestinal tract). However, these observations would need to be confirmed by studying a larger number of CD families.      

The unmasking of <Emphasis Type="Italic">Pneumocystis jiroveci</Emphasis> pneumonia during reversal of immunosuppression: case reports and literature review

Background  

Pneumocystis jiroveci pneumonia (PCP) is an important opportunistic infection among immunosuppressed patients, especially in those infected with human immunodeficiency virus (HIV). The clinical presentation of PCP in immunosuppressed patients have been well-reported in the literature. However, the clinical importance of PCP manifesting in the setting of an immunorestitution disease (IRD), defined as an acute symptomatic or paradoxical deterioration of a (presumably) preexisting infection, which is temporally related to the recovery of the immune system and is due to immunopathological damage associated with the reversal of immunosuppressive processes, has received relatively little attention until recently.     

亚太地区炎症性肠病处理共识意见(一)

虽然目前亚太地区尚无炎症性肠病（IBD）的大规模流行病学资料，但一系列研究显示其发病率和患病率呈上升趋势。与西方国家相比仍呈滞后现象。溃疡性结肠炎（UC）的发病率仍较克罗恩病（CD）高。除地域差异外。在一些多民族国家中，IBD尚可见种族差异。亚太地区IBD的遗传背景有异于西方国家。如据报道该地区CD患者未检出NOD2／CARDI5变异。一般而言，该地区IBD患者的临床过程似不如西方国家严重。 亚太地区IBD的诊断存在一些特殊问题。如缺乏IBD诊断金标准。存在多种小肠结肠炎，与IBD临床表现相似，使鉴别诊断特别困难。迄今为止，亚太地区IBD的诊断标准多采用西方国家的诊断标准。诊断必须逐步排除非IBD的小肠结肠炎。确诊应有典型的组织学表现。某些患者需借助随访和诊断性治疗才能确诊。进一步研究IBD发病机制将有助于开发更好的诊断标记物。 亚太地区IBD的治疗亦存在特殊问题。由于诊断困难。IBD患者常未能及时接受适当的药物治疗，但该地区仍广泛采用药物治疗方案。结合西方指南和本地经验可制定类似的处理原则。以利诱导缓解和维持缓解。提倡逐级使用基于病变范围、活动性和严重度的阶梯式治疗方案。对不同病例采用综合性、个体化的方法。随着对IBD发病机制和亚太地区IBD独特性的深入理解。合理、实用的药物治疗指南和应用生物制剂治疗将改善该地区IBD的治疗前景。     

Is homozygous α-thalassaemia a lethal condition in the 1990s?

Two cases of homozygous α-thalassaemia who received active treatment in accordance with parental wishes are reported. One infant survived and the other, although successfully weaned off mechanical respiratory support, unexpectedly developed portal vein thrombosis and died. Homozygous a-thalassaemia, a condition previously considered to be universally fatal, and an indication for therapeutic abortion, is now potentially curable with advances in diagnostic technology and treatment. However, active management of these cases raises serious ethical questions and has major financial implications on the health-care system. Invasive prenatal and intensive postnatal interventions should remain experimental and cannot be recommended as routine clinical practice until the questions of long-term neurodevelopmental outcome, and the morbidity and mortality associated with bone-marrow transplantation have been fully addressed. As a result of advances in information technology, more and more parents of affected foetuses are likely to request active treatment.     

若干莽草酸衍生物的合成和生物活性研究

虽然对莽草酸(shikimic acid)的研究由来已久,但只是在陆续发现了具有生物活性的乙二醛酶Ⅰ抑制剂(glyoxalase Ⅰinhibitor 1)和二(口恶)霉素(dioxolamycin 2)等含莽草酸类母核的天然产物后,才有合成莽草酸衍生物进行生物活性研究的报道,即由莽草酸甲酯合成乙二醛酶Ⅰ抑制剂的类似物3。