New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi Origin

We report a distinct type of spondyloepimetaphyseal dysplasia seen in 2 sibs and their second cousin, characterized by early onset severe short stature, small chest, and distended abdomen. They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowth and joint laxity. Radiographically, the patients had platyspondyly, initially noted during the first years of life, with central hypoplasia of the vertebral bodies. At a later age, the vertebrae appear squared with mild interpedicular narrowing. The long bone changes, which at early age resemble those seen in achondroplasia, later include general metaphyseal irregularities and significant epiphyseal ossification delay. These patients present a previously undescribed form of spondyloepimetaphyseal dysplasia, most probably transmitted as an autosomal recessive tract. © 1993 Wiley-Liss, Inc.     

Rapid changes in the expression of a gene encoding a calcium-binding protein in Schistosoma mansoni

Genes expressed in a stage-specific manner may help us understand the molecular events controlling the complex life cycle of schistosomes. cDNA and genomic clones encoding a calcium-binding protein (CaBP) were obtained from cercariae and their sequence determined. The encoded protein (69 amino acids long) shows clear resemblance to the domain structure and organization of CaBP molecules. It contains two typical calcium-binding loops, the distance between which is identical to the length conserved in other CaBP molecules. In addition, the schistosome CaBP shows Ca2+-dependent electrophoretic mobility (increased with Ca2+-ions and decreased with EGTA). Northern blots revealed expression of the CaBP gene in cercariae but not in sporocyst or worm (developmental stages preceding and following cercaria). The preferential expression of this CaBP in the cercaria raises questions as to what cercaria-specific function(s) it performs. The structure of the gene is similar to that in other eukaryotes, and one intron interrupts the coding sequence. The region of the cap site was determined, and there was no evidence of the spliced leader sequence found in the mRNAs of other parasites. The CaBP reveals a rapid change in gene expression, since the mRNA is missing in the parasite residing in infected snails, but is readily detected in cercariae 1 h after shedding. We identified other genes which are turned on (like the CaBP) or shut off within the short period of transition from cercariae in the snail to free-swimming cercariae.     

Reduced femoral geometry but normal biomechanics in the dorsomedial hypothalamic nucleus-lesioned rat.

Bone geometry, structure, and biomechanical properties were investigated in a model of growth retardation, the dorsomedial hypothalamic nucleus-lesioned (DMNL) weanling rat. Male weanling Sprague-Dawley rats received bilateral electrolytic lesions in the dorsomedial hypothalamic nucleus (DMN) at age 27 days. Sham-operated rats served as controls. All rats were maintained postoperatively for 40 days. Upon sacrifice, DMNL rats weighed less (p < 0.01), were shorter (p < 0.01), and ate less (p < 0.01) when compared to controls, but their body composition was normal. The femora in DMNL were shorter (p < 0.01), had a smaller outer anteroposterior (AP) diameter (p < 0.04), polar moment of the area (p < 0.02), and maximal (p < 0.02) and minimal (p < 0.03) principal moment of the area when compared with sham-operated rats. Notably, mean torque at failure, torsional energy, stiffness, and maximal stress did not demonstrate statistically significant differences between the two groups. These data clearly show that despite the reduced size and bone growth, DMNL rats responded normally to the mechanical challenges applied to test bone biomechanical properties. The data, therefore, add to previous evidence and strengthen the hypothesis that DMNL rats are governed by an "organismic" set point.     

Problem solving,sense of coherence and instrumental ADL of elderly people with depression and normal control group

The purpose of this study was first, to explore the separate contribution and interaction between verbal and performance based problem solving and sense of coherence; and second, to examine the association of these variables with Instrumental Activities of Daily Living (IADL) function among elderly people with depression living in the commuinity and a normal control group. The participants included elders receiving ambulatory care for depression (n=31; mean age=73, SD=9.3); and normal elders (n=30; mean age=78, SD=5.8). Screening for general cognitive ability and level of depression was done using the Mini Mental Status Examination (MMSE) and the Geriatric Depression Scale (GDS). All participants underwent evaluation using the Large Allen Cognitive Level Test (LACL) (a measure of performance based problem solving); the Problem Solving Verbal Reaction to everyday problematic situations (PSVR); the Sense of Coherence questionnaire (SOC) and the Routine Task Inventory (RTI) (a measure of IADL from the cognitive perspective). Wilcoxon statistical analysis indicated highly significant differences between the two groups for all of the study variables. In the depressive group, significant correlations were found between the components of problem solving (LACL and PSVR) and IADL (r=0.70 and r=0.53), while the SOC did not correlate with IADL in either group. Results of ANCOVA controlling for LACL showed that it has a significant effect (F=13.63, p=0.001); however, beyond it verbal problem solving still has a significant effect on IADL (F=4.77, p=0.02), and SOC in interaction with verbal problem solving was significant (F=3.97, p=0.035). The findings suggest that depression in elderly people is associated with lower functioning in problem solving and IADL function, and lower sense of coherence; hence, attention to these factors should be integral to intervention with elderly people. However, it is recommended that further study be made of the relationships of variables found in this study with the current instruments, and also with additional tools because of confounding effects, in order to further support and validate the findings. As the sample size was small compared with the number of measures, it is important to replicate the study with larger groups to have more power. Copyright © 1999 Whurr Publishers Ltd.     

Liver candidiasis

Liver candidiasis is characterised by small abscesses spread throughout the organ at random. These lesions may be identified sonographically. In the active phase of the disease, hepatomegaly is seen together with the wheel in wheel phenomenon, the wagon wheel appearance and/or the bull's eye lesion. Later on, hypoechoic defects develop. When the echogenic foci are revealed, the healing phase is initiated. These manifestations are demonstrated in 4 pediatric oncology patients. The sonographic patterns as well as its differential diagnosis from primary liver tumors, metastatic infiltrations or other abscess formations are discussed.     

Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model

Fabry disease is secondary to deficiency of the lysosomal enzyme α-galactosidase A, leading to altered glycosphingolipid metabolism and accumulation that is often associated with endothelial dysfunction. Current evidence suggests that there is impairment of the vascular nitric oxide pathway, with abnormalities evident in the cerebral circulation and in the dermal vasculature of patients with Fabry disease. Some of these findings have been confirmed in a mouse model of Fabry disease. The murine model, however, allows investigation of Fabry disease at a non-clinical level and a near complete investigation of biological processes within an affected tissue. This is of particular utility in allowing gene expression analysis of clinically inaccessible tissues such as the aorta.
Conclusion: Future developments in array technology for proteins and DNA single nucleotide polymorphism analysis, together with gene expression microarray analysis, may open a new chapter in our understanding of the biology of lysosomal storage disorders.     

The anti-cancer activities of jasmonates

Jasmonates, plant stress hormones protecting the plant from microbial pathogens and environmental stresses, were also discovered to have toxic activities toward mammalian cancer cells. Methyl jasmonate (MJ) was found to be the most active anti-cancer derivate among natural jasmonates, exhibiting a specific cell death-induction effect toward several cancer cells. Since that discovery of jasmonates-inducing cancer cell death, the molecular mechanism of action of jasmonates leading to cell death was deciphered. Moreover, in addition to the direct effects of MJ on cancer cell death, it was found to deregulate several genes and affect various intracellular factors and cellular processes, such as sensitization of apoptotic cell death induced by TRAIL, cancer cell migration attenuation, cell cycle arrest, and differentiation. This mini-review summarizes over a decade of research of jasmonates as anti-cancer agents.     

Low anterior resection syndrome (LARS): cause and effect and reconstructive considerations

Between 25 and 80 % of patients undergoing a low or very low anterior resection will suffer postoperatively, from a constellation of symptoms including fecal urgency, frequent bowel movements, bowel fragmentation and incontinence, collectively referred to as the low anterior resection syndrome (LARS). The etiology of LARS is multifactorial with the potential of sphincter injury during anastomosis construction, alterations in anorectal physiology, the development of a pudendal neuropathy, and a lumbar plexopathy with exacerbation of symptoms if there is associated anastomotic sepsis or the use of adjuvant and neoadjuavnt therapies. The symptoms of LARS may be obviated in part by the construction of a neorectal reservoir which may take the form of a colonic J-pouch, a transverse coloplasty, or a side-to-end anastomosis. This review outlines the factors contributing to LARS symptomatology along with the short- and medium-term functional results of comparative trials with the different types of neorectal reconstructions.     

The role of the computerized tomography scanner in the cross-transmission of carbapenem-resistant Acinetobacter baumannii between hospitalized patients

ObjectiveTo assess the role of the computerized tomography (CT) scanner in cross-transmission of carbapenem-resistant Acinetobacter baumannii between hospitalized patients undergoing CT scan.MethodsA single-centre retrospective observational analysis of inpatients undergoing CT scans. Patient-unique CT scans were defined as ‘index cases’ (patients undergoing CT scan with carbapenem-resistant Acinetobacter baumannii (CRAB) colonization documented during the previous 60 days), ‘incident cases’ (patients found colonized with CRAB within 14 days following CT scan), and ‘negative cases’ (negative for CRAB before and after CT scan). CRAB acquisition was analysed by time interval between CT scan and CT scan of the prior index-case patient.ResultsAmongst 73 047 CT scans performed over 5 years, 4834 scans were performed within 12 hours of an index case. CRAB acquisition was detected in 20 patients (incident cases), including 16/2725 (5.8/1000 scans) who underwent CT scan within 6 hours of an index-case CT scan and 4/2109 (1.9/1000 scans) who had their CT scan 7–12 hours after the CT scan of an index-case patient (p 0.033, risk ratio 3.1, 95%CI 1.03–9.25). Patient characteristics for the two time periods were similar. While not the only significant predictor of CRAB acquisition (others included age and length of hospital stay prior to the CT scan), the time elapsed from an index case remained a significant predictor for CRAB acquisition on multivariate analysis (OR 0.84, 95%CI 0.74–0.95, p 0.007).ConclusionsPerforming a CT scan within 6 hours of a CT scan performed in a CRAB-positive patient was an independent predictor of CRAB acquisition, approximately tripling the risk. This probably reflects poor infection control practice in the CT suite.