Severe congenital absence of skin in a preterm infant

A severe case of aplasia cutis congenita in a preterm infant is described. Although major problems with thermoregulation and fluid balance were anticipated, these parameters were relatively easy to control once the patient was stabilized. Meticulous skin care and rapid formation of a membranous-like fibrous tissue layer covering the denuded areas probably played an important role in minimizing excessive fluid and heat loss. The prognosis in aplasia cutis congenita is determined by the underlying associated anomalies, the severity of skin lesions and, in our case, the maturity of the infant who died from complications of prematurity.     

Neonatal Marfan syndrome: A case report

A case of neonatal Marfan syndrome is presented. The patient was noted to have cardiomegaly and tricuspid regurgitation on antenatal ultrasound scan. She was born with long, slender fingers and toes, an aged appearance and non-paralytic hypotonia. Echocardiogram revealed a dilated right atrium, right ventricle, dysplastic tricuspid valve and severe tricuspid regurgitation. She subsequently died of severe heart failure. Post-mortem examination showed the pathological features of lobar emphysema and cystic medial necrosis of the aorta. These features supported the diagnosis of neonatal Marfan syndrome. Nucleotide sequencing showed substitution of G by A at codon 1032 in exon 25 located in the long arm of chromosome 15. This resulted in the substitution of a cysteine by a tyrosine. A de novo mutation is suggested by the absence of affected family members.     

Effects of theophylline on human cerebral blood flow velocity during halothane and isoflurane anaesthesia.

The acute influence of therapeutic doses of theophylline on cerebral blood flow velocities during general anaesthesia induced either by halothane or isoflurane has not been elucidated previously. The aim of this study, was therefore to investigate these effects during steady state anaesthetic conditions in anaesthetized patients using transcranial Doppler sonography. Thirty-four Patients were investigated. Anaesthesia was maintained either with 1 MAC (minimum alveolar concentration) halothane (n = 16) or 1 MAC isoflurane (n = 18); FiO2: 40%; end-expiratory pCO2: normocapnia. Theophylline administration was performed before surgery by infusing 6 mg kg-1 over a period of 7.5 min. Measurements were recorded prior to theophylline administration, and immediately after 2 mg kg-1 (2.5 min), 4 mg kg-1 (5 min) and 6 mg kg-1 (7.5 min), as well as 5, 10, 15, 20, 30 and 45 min after theophylline administration. Recorded variables included blood pressure, heart rate, arterial oxygen saturation, end-expiratory pCO2, body temperatures, middle cerebral artery blood flow velocity and pulsatility index. Theophylline administration was well tolerated by all study subjects. Heart rate, blood pressure, body temperatures, arterial oxygen saturation and end-expiratory pCO2 remained constant during the whole examination period. Following theophylline, mean blood flow velocity decreased by 25% in the halothane and by 30% in the isoflurane group (P < 0.05). By the end of the examination period, mean blood flow velocity had not yet recovered to the initial values whereby in both groups the mean blood flow velocity was 26% below the initial values. In the isoflurane group, the pulsatility index increased by about 20% (P < 0.05) and remained high until the end of the examination. In the halothane group, however, there were no changes in the pulsatility index. Our results show a remarkable, significant and simultaneous decrease in blood flow velocity in the middle cerebral artery associated with theophylline administration during halothane and isoflurane anaesthesia in man.     

Local Perceptions of the Forms, Timing and Causes of Behavior Change in Response to the AIDS Epidemic in Zimbabwe

Quantitative studies indicate that HIV incidence in Zimbabwe declined since the late 1990s, due in part to behavior change. This qualitative study, involving focus group discussions with 200 women and men, two dozen key informant interviews, and historical mapping of HIV prevention programs, found that exposure to relatives and close friends dying of AIDS, leading to increased perceived HIV risk, was the principal explanation for behavior change. Growing poverty, which reduced men’s ability to afford multiple partners, was also commonly cited as contributing to reductions in casual, commercial and extra-marital sex. HIV prevention programs and services were secondarily mentioned as having contributed but no specific activities were consistently indicated, although some popular culture influences appear pivotal. This qualitative study found that behavior change resulted primarily from increased interpersonal communication about HIV due to high personal exposure to AIDS mortality and a correct understanding of sexual HIV transmission, due to relatively high education levels and probably also to information provided by HIV programs.     

Implementation of an image-guided radiation therapy program: Lessons learnt and future challenges

The aim of this paper is to detail the experience obtained in implementing an image-guided radiation therapy program at the Northern Sydney Cancer Centre. This required retrofitting a Varian Clinac 21EX with an on-board imager. The commissioning and quality assurance procedures, organisation of a multidisciplinary image guided radiation therapy group, and the development of clinical protocols for orthogonal kV and cone beam computed tomography implementation are described. Reassessment of the image-guided radiation therapy program has continued as new equipment and software versions were made available in the department.     

Optimal stem cell source for allogeneic stem cell transplantation for hematological malignancies

Hematopoietic stem cell transplant (HSCT) is a standard treatment for many hematological malignancies. Three different sources of stem cells, namely bone marrow (BM), peripheral blood stem cells (PBSC) and cord blood (CB) can be used for HSCT, and each has its own advantages and disadvantages. Randomized controlled trials (RCTs) suggest that there is no significant survival advantage of PBSC over BM in Human Leukocyte Antigen-matched sibling transplant for adult patients with hematological malignancies. PBSC transplant probably results in lower risk of relapse and hence better disease-free survival, especially in patients with high risk disease at the expense of higher risks of both severe acute and chronic graft-versus-host disease (GVHD). In the unrelated donor setting, the only RCT available suggests that PBSC and BM result in comparable overall and disease-free survivals in patients with hematological malignancies; and PBSC transplant results in lower risk of graft failure and higher risk of chronic GVHD. High level evidence is not available for CB in comparison to BM or PBSC. The risks and benefits of different sources of stem cells likely change with different conditioning regimen, strategies for prophylaxis and treatment of GVHD and manipulation of grafts. The recent success and rapid advance of double CB transplant and haploidentical BM and PBSC transplants further complicate the selection of stem cell source. Optimal selection requires careful weighing of the risks and benefits of different stem cell source for each individual recipient and donor. Detailed counseling of patient and donor regarding risks and benefits in the specific context of the patient and transplant method is essential for informed decision making.     

Differential BMP-1 expression in injured anterior cruciate ligament and medial collateral ligament fibroblasts induced by TGF-β1

目的 观察在转化生长因子-β1(transforming growth factor betal,TGF-β1)作用下,损伤的前交叉韧带(anterior cruciate ligament,ACL)和内侧副韧带(medial collateral ligament,MCL)中骨形态发生蛋白-1(bone morphogenetic protein-1,BMP-1)基因的表达,找出TGF-31、BMP-1之间的关系,揭示机械损伤后ACL和MCL细胞中BMP-1的表达差异.方法 采用反转录PCR(RT-PCR)和实时荧光定量PCR方法检测1、5、50 ng/ml TGF-β1处理后2h受损的ACL和MCL细胞中BMP-1的表达以及5 ng/ml TGF-β1作用2、6、12、24h受损的ACL和MCL细胞中BMP-1的表达;Western blot检测5 ng/mlTGF-β1处理48 h后受损的ACL和MCL细胞中BMP-1的表达.结果 受损的ACL和MCL细胞中BMP-1的基因表达比正常状态下偏高,并随着TGF-β1浓度的增大而增高,在MCL中的增高程度比在ACL中高出近1倍(P＜0.05);与正常组相比,在5 ng/ml TGF-β1处理24h后,ACL细胞中BMP-1的表达在24h达到最高比例(约为6.1倍),而在MCL中12h达到最高比例(约为9.84倍,P＜0.05).5 ng/ml TGF-β1处理48 h后BMP-1蛋白也明显上调,与无TGF-β1处理的对照组相比,ACL细胞中BMP-1上调2.32倍,MCL细胞中BMP-1上调3.84倍(P＜0.05).结论 TGF-β1刺激BMP-1的变化可能直接影响到细胞外基质中活性赖氨酰氧化酶的表达,对损伤ACL和MCL的修复有极其重要的参考价值和临床意义.     

Methohexital affects neutrophil (PMN) dynamic free amino acid pool and immune functions in vitro.

BACKGROUND AND OBJECTIVE: The objective of this study was to determine the dose as well as the duration of exposure-dependent effects of methohexital on neutrophil [polymorphonuclear leucocyte (PMN)] free amino acid profiles and, in a parallel study, on PMN immune functions. METHODS: Whole blood samples were taken from 20 volunteers and incubated with methohexital [0 (control), 3.6, 26, 130 and 260 microg mL-1] for 10, 30, 60 or 120 min. PMN amino acid profiles were documented using advanced PMN separation and high-performance liquid chromatography procedures. Superoxide anion (O2-) and hydrogen peroxide production (H2O2), and activity of released myeloperoxidase (MPO), were determined photometrically. RESULTS: After methohexital, significant dose (> or = 26 microg mL-1) as well as duration of exposure-dependent (> or = 30 min) increases in histidine, isoleucine, leucine, valine, methionine, serine, glycine, threonine, and decreases in glutamine, glutamate, aspartate, asparagine, arginine, ornithine, citrulline, alanine and taurine were observed (P < or = 0.05). Concerning PMN immune functions, methohexital significantly decreased O2-, H2O2 formation and MPO (> or = 26 microg mL-1, > or = 30 min, P < or = 0.05). CONCLUSIONS: Altogether, there is significant relevance to the pharmacological regimens which enhance the supply of methohexital in whole blood. In regards to our results, we suggest that considerable changes in PMN 'dynamic free amino acid pool', for example induced by methohexital, may be one of the determinants in cell nutrition adversely affecting PMN metabolism. It is partially through its effect on the PMN free amino acid pool that maleficent pharmacological stress may have an unintentional influence on PMN immune functions.