Predominance of null mutations in ataxia-telangiectasia

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition. The responsible gene, ATM, was recently identified by positional cloning and found to encode a putative 350 kDa protein with a Pl 3-kinase-like domain, presumably involved in mediating cell cycle arrest in response to radiation-induced DNA damage. The nature and location of A-T mutations should provide insight into the function of the ATM protein and the molecular basis of this pleiotropic disease. Of 44 A-T mutations identified by us to date, 39 (89%) are expected to inactivate the ATM protein by truncating it, by abolishing correct initiation or termination of translation, or by deleting large segments. Additional mutations are four smaller in-frame deletions and insertions, and one substitution of a highly conserved amino acid at the Pl 3-kinase domain. The emerging profile of mutations causing A-T is thus dominated by those expected to completely inactivate the ATM protein. ATM mutations with milder effects may result in phenotypes related, but not identical, to A-T.      

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.     

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.     

Shoulder dystocia: a comparison of patients with and without diabetes mellitus

Background: The study was aimed to compare pregnancies complicated with shoulder dystocia, of patients with and without diabetes mellitus. Methods: A comparison of all singleton, vertex, term deliveries between the years 1988–1999, complicated with shoulder dystocia with and without diabetes mellitus was performed. Statistical analysis was done using receiver operating characteristic curve analysis. Results: Using a receiver operating characteristic curve analysis, the area under the curve for birth weight was 0.92 (95% CI 0.90–0.93). However, for birth weight of 4,000 g the sensitivity was only 56% with specificity of 95%. While comparing shoulder dystocia between patients with (n=38) and without diabetes mellitus (n=207), neonates of the diabetic patients were significantly heavier (mean birth weight 4,244.2±515.1 vs. 4,051.6±389.5; P=0.008) and had higher rate of Apgar scores lower than 7 at 1 min (50.0% vs. 25.9%; P=0.030), but not at 5 min (2.6% vs. 2.0%; P=0.083) when compared to the non-diabetic group. No significant differences were noted regarding perinatal mortality between the groups (0% vs. 4.3%; P=0.362). Conclusions: The newborn of the diabetic mother complicated with shoulder dystocia does not appear to be at an increased risk for perinatal morbidity compared with the newborn of the non-diabetic mother. Presented in part at the Society for Gynecologic Investigation 50th Annual Scientific Meeting, Washington, DC, 27–30 March 2003.     

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.     

Amputating the Body,Fragmenting the Nation: Palestinian Amputees in Gaza

In this paper, we seek to contextualize amputations sustained by Palestinians during the Great March of Return within a framework of settler-colonial ideology and practice. Utilizing case studies identified in our advocacy work at Physicians for Human Rights Israel, we evaluate the conditions in which these amputations occurred and their relationship to the politicized Palestinian body, land, and nation. Through evaluating themes of intentionality and subjugation, the politicized Palestinian body, and reflections on the challenges of navigating human rights and humanitarian possibilities, we reflect on our work and the ability to advocate for health justice in inherently violent and eliminatory bureaucratic and legal systems. We conclude with a discussion on the utility of a human rights approach that is divorced from a structural and historical analysis of the dire situation on the ground.