Intraoperative non invasive intracranial pressure monitoring during pneumoperitoneum: a case report and a review of the published cases and case report series.

Non-invasive measurement of ICP (nICP) can be warranted in patients at risk for developing increased ICP during pneumoperitoneum (PP). Our aim was to assess available data on the application of nICP monitoring during these procedures and to present a patient assessed with an innovative combination of noninvasive tools. Literature review of nICP assessment during PP did not find any studies comparing different methods intraprocedurally and only few studies of any nICP monitoring were available: transcranial Doppler (TCD) studies used the pulsatility index (PI) as an estimator of ICP and failed to detect a significant ICP increase during PP, whereas two out of three optic nerve sheath diameter (ONSD) studies detected a statistically significant ICP increase. In the case study, we describe a 52 year old man with a high grade thalamic glioma who underwent urgent laparoscopic cholecystectomy. Considering the high intraoperative risk of developing intracranial hypertension, he was monitored through parallel ONSD ultrasound measurement and TCD derived formulae (flow velocity diastolic formula, FVdnICP, and PI). ONSD and FVdnICP methods indicated a significant ICP increase during PP, whereas PI was not significantly increased. Our experience, combined with the literature review, seems to suggest that PI might not detect ICP changes in this context, however we indicate a possible interest of nICP monitoring during PP by means of ONSD and of TCD derived FVdNICP, especially for patients at risk for increased ICP.

Women's interpretation of and responses to potential gynaecological cancer symptoms: a qualitative interview study.

OBJECTIVE: To explore women's experiences of symptoms potentially indicative of gynaecological cancer in a community-based sample without imposing a cancer perspective. DESIGN: A qualitative interview study with thematic analysis of transcripts. PARTICIPANTS: 26 women aged ≥30 years, who had experienced a symptom that might indicate gynaecological cancer in the past 3 months, were recruited using a screening questionnaire distributed online and in community settings. SETTING: London, UK. RESULTS: Women attributed gynaecological symptoms to existing illnesses/conditions or considered themselves to be predisposed to them, either through their 'genes' or previous personal experience. Normalising symptoms by attributing them to demographic characteristics (eg, age, sex) was common, as was considering them a side effect of hormonal contraception. When women raised cancer as a possible cause, they often dismissed it as unlikely. Responses to symptoms included self-management (eg, self-medicating, making lifestyle changes), adopting a 'lay system of care', or consulting a healthcare professional. Triggers to help-seeking included persistent, painful or debilitating symptoms, concern about symptom seriousness, and feeling that help-seeking was legitimised. Barriers to help-seeking included lack of concern, vague symptoms, unusual symptom location, competing time demands, previous negative experiences with the healthcare system, and not wanting to be perceived as a time-waster. CONCLUSIONS: Attributions of symptoms potentially indicative of a gynaecological cancer were varied, but most often involved women fitting symptoms into their expectations of what was 'normal'. Normalising acted as a barrier to seeking help from a healthcare professional, alongside competing time demands and negative attitudes towards help-seeking. These barriers may lead to later diagnosis and poorer cancer survival. Our findings could be used to inform the development of interventions to encourage appropriate help-seeking.

Respiratory failure due to upper airway obstruction in children: use of the helmet as bridge interface.

Upper airway obstruction (UAO) can cause severe respiratory distress in young children by increasing inspiratory muscle load and decreasing alveolar ventilation, ultimately resulting in hypercapnia and hypoxemia which have long term negative cardiovascular effects. Although non-invasive continuous positive airway pressure (CPAP) improves gas exchange in these patients, use of conventional interfaces (nasal mask, nasal pillow and facial mask) may cause significant discomfort and lead to CPAP intolerance. We report five cases of children affected by UAO who experienced CPAP intolerance via application of conventional interfaces. Alternatively, we acutely applied helmet-CPAP which resulted in improved breathing pattern and gas exchange. Thereafter, patients received training with respect to a nasal CPAP interface, allowing successful long term treatment. In conclusion, these five clinical cases demonstrate that helmet-CPAP can be used acutely in children with UAO if compliance to conventional modalities is problematic, allowing for sufficient time to achieve compliance to nasal-CPAP.

High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus.

Sitosterolaemia (phytosterolaemia) is an autosomal recessive disorder characterised by the presence of tendon xanthomas in the face of normal or mildly elevated plasma cholesterol levels, premature atherosclerotic disease and has diagnostically elevated plasma and tissue plant sterol concentrations. Affected individuals show an increased absorption of both cholesterol and sitosterol from the diet, decreased bile clearance of these sterols and their metabolites resulting in markedly expanded whole body cholesterol and sitosterol pools. The defective gene is therefore hypothesised to play a crucial role in regulating dietary cholesterol absorption, and its elucidation may shed light on these molecular processes. We have previously localised the defective gene to human chromosome 2p21, between microsatellite markers D2S1788 and D2S1352, a distance of approximately 15 cM. Recently, the disease locus interval has been narrowed to lie between D2S2294 and D2S2291/D2S2174. We have constructed a high-resolution YAC and BAC contigs by using known STSs and generating novel STSs from the minimal interval. Eight previously identified genes and 60 ESTs were mapped to these contigs. The BAC contig contains 60 BAC clones and 108 STSs and encompasses a physical distance of approximately 2.0 cM between microsatellite markers D2S2294 and D2S2291. These results will not only facilitate cloning of the sitosterolaemia gene, but also other disease genes located in this region, and accelerate sequencing of the corresponding genomic clones.

A physical map of the human genome.

The human genome is by far the largest genome to be sequenced, and its size and complexity present many challenges for sequence assembly. The International Human Genome Sequencing Consortium constructed a map of the whole genome to enable the selection of clones for sequencing and for the accurate assembly of the genome sequence. Here we report the construction of the whole-genome bacterial artificial chromosome (BAC) map and its integration with previous landmark maps and information from mapping efforts focused on specific chromosomal regions. We also describe the integration of sequence data with the map.

A physical map of the human Y chromosome.

The non-recombining region of the human Y chromosome (NRY), which comprises 95% of the chromosome, does not undergo sexual recombination and is present only in males. An understanding of its biological functions has begun to emerge from DNA studies of individuals with partial Y chromosomes, coupled with molecular characterization of genes implicated in gonadal sex reversal, Turner syndrome, graft rejection and spermatogenic failure. But mapping strategies applied successfully elsewhere in the genome have faltered in the NRY, where there is no meiotic recombination map and intrachromosomal repetitive sequences are abundant. Here we report a high-resolution physical map of the euchromatic, centromeric and heterochromatic regions of the NRY and its construction by unusual methods, including genomic clone subtraction and dissection of sequence family variants. Of the map's 758 DNA markers, 136 have multiple locations in the NRY, reflecting its unusually repetitive sequence composition. The markers anchor 1,038 bacterial artificial chromosome clones, 199 of which form a tiling path for sequencing.

A high-resolution map of human chromosome 12.

Our sequence-tagged site-content map of chromosome 12 is now integrated with the whole-genome fingerprinting effort. It provides accurate and nearly complete bacterial clone coverage of chromosome 12. We propose that this integrated mapping protocol serves as a model for constructing physical maps for entire genomes.

Sequence and analysis of chromosome 5 of the plant Arabidopsis thaliana.

The genome of the model plant Arabidopsis thaliana has been sequenced by an international collaboration, The Arabidopsis Genome Initiative. Here we report the complete sequence of chromosome 5. This chromosome is 26 megabases long; it is the second largest Arabidopsis chromosome and represents 21% of the sequenced regions of the genome. The sequence of chromosomes 2 and 4 have been reported previously and that of chromosomes 1 and 3, together with an analysis of the complete genome sequence, are reported in this issue. Analysis of the sequence of chromosome 5 yields further insights into centromere structure and the sequence determinants of heterochromatin condensation. The 5,874 genes encoded on chromosome 5 reveal several new functions in plants, and the patterns of gene organization provide insights into the mechanisms and extent of genome evolution in plants.

Dermatofibrosarcoma protuberans metastasizing to lymph nodes: a case report and review of literature.

Dermatofibrosarcoma Protuberans (DFSP) is an uncommon cutaneous soft tissue tumor. It is locally invasive and is known to recur. Metastases are rare and occur most commonly to the lungs. Metastasis to lymph nodes is extremely rare with only a few case reports in literature. The management strategy for such lymph node metastases remains controversial because of rarity of the condition. We report a case of DFSP of the lower limb with definite inguinal node secondaries managed by loco-regional surgery. We recommend that block dissection of lymph nodes should be performed in all cases with secondaries. J. Surg. Oncol. 1999;72;178-180.

zA map for sequence analysis of the Arabidopsis thaliana genome.

Arabidopsis thaliana has emerged as a model system for studies of plant genetics and development, and its genome has been targeted for sequencing by an international consortium (the Arabidopsis Genome Initiative; http://genome-www. stanford.edu/Arabidopsis/agi.html). To support the genome-sequencing effort, we fingerprinted more than 20,000 BACs (ref. 2) from two high-quality publicly available libraries, generating an estimated 17-fold redundant coverage of the genome, and used the fingerprints to nucleate assembly of the data by computer. Subsequent manual revision of the assemblies resulted in the incorporation of 19,661 fingerprinted BACs into 169 ordered sets of overlapping clones ('contigs'), each containing at least 3 clones. These contigs are ideal for parallel selection of BACs for large-scale sequencing and have supported the generation of more than 5.8 Mb of finished genome sequence submitted to GenBank; analysis of the sequence has confirmed the integrity of contigs constructed using this fingerprint data. Placement of contigs onto chromosomes can now be performed, and is being pursued by groups involved in both sequencing and positional cloning studies. To our knowledge, these data provide the first example of whole-genome random BAC fingerprint analysis of a eucaryote, and have provided a model essential to efforts aimed at generating similar databases of fingerprint contigs to support sequencing of other complex genomes, including that of human.

INP51, a yeast inositol polyphosphate 5-phosphatase required for phosphatidylinositol 4,5-bisphosphate homeostasis and whose absence confers a cold-resistant phenotype.

Sequence analysis of Saccharomyces cerevisiae chromosome IX identified a 946 amino acid open reading frame (YIL002C), designated here as INP51, that has carboxyl- and amino-terminal regions similar to mammalian inositol polyphosphate 5-phosphatases and to yeast SAC1. This two-domain primary structure resembles the mammalian 5-phosphatase, synaptojanin. We report that Inp51p is associated with a particulate fraction and that recombinant Inp51p exhibits intrinsic phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity. Deletion of INP51 (inp51) results in a "cold-tolerant" phenotype, enabling significantly faster growth at temperatures below 15 degreesC as compared with a parental strain. Complementation analysis of an inp51 mutant strain demonstrates that the cold tolerance is strictly due to loss of 5-phosphatase catalytic activity. Furthermore, deletion of PLC1 in an inp51 mutant does not abrogate cold tolerance, indicating that Plc1p-mediated production of soluble inositol phosphates is not required. Cells lacking INP51 have a 2-4-fold increase in levels of phosphatidylinositol 4,5-bisphosphate and inositol 1,4, 5-trisphosphate, whereas cells overexpressing Inp51p exhibit a 35% decrease in levels of phosphatidylinositol 4,5-bisphosphate. We conclude that INP51 function is critical for proper phosphatidylinositol 4,5-bisphosphate homeostasis. In addition, we define a novel role for a 5-phosphatase loss of function mutant that improves the growth of cells at colder temperatures without alteration of growth at normal temperatures, which may have useful commercial applications.

Serum lipid peroxide and other enzyme levels of patients suffering from thermal injury.

The levels of the lipid peroxidation product malondialdehyde (MDA) and the activity of transaminases and alkaline phosphatases were estimated in the sera of 25 thermally injured patients at various time intervals after injury. The level of MDA was increased during the early postburn period, whereas the activities of transaminases and alkaline phosphatase became elevated later after injury. It is concluded that an increased concentration of lipid peroxidation product (MDA) in the early postburn period may affect the spleen, liver and kidney, resulting in the release of enzymes into blood stream. Such damage may be checked by the antioxidants superoxide dismutase or allopurinol.

Genetic distance and heterosis in Indian mustard: developmental isozymes as indicators of genetic relationships.

The use of isozymes as indicators of genetic diversity and as markers for the selection of agronomic traits has been proposed in different crop species. The present investigation was conducted to study the use of isozyme-derived genetic distance between parents in predicting the F1 heterosis in Indian mustard. In addition, the interaction of isozyme-based diversity with quantitative trait and pedigree-based diversity measures, and its role in predicting hybrid heterosis has also been examined. Sixteen Indian mustard lines and their 48 crosses (12 × 4, line x tester crossing) were evaluated over two environments for isozyme and quantitative morphological characters. The results from this study suggest that the heterotic response to isozymic changes is more responsive in crosses derived from morphologically and pedigree-wise related parents in comparison to crosses derived from unrelated parents. It was possible to improve heterosis predictions by partitioning the isozyme-based genetic distance into general genetic distance and specific genetic distance and correlating the latter with the specific combining ability of morphological traits. The possible reasons for these observations are discussed.

Semen sponge for post-vasectomy confirmation of sterilization.

PIP: Due to various factors--shyness, failure of patients to return for follow-up, poor postal services--few sperm counts are conducted following vasectomies in India to assess the success of the operation. A semen sponge technique has been developed which overcomes most previous difficulties and objections. At the time of vasectomy, the patient is given a stamped envelope with a sponge piece. The patient is instructed to smear the sponge with a little semen after 12 ejaculations or after 3 months, to let the sponge dry, and then to mail it back to the health center. Laboratory procedures on the sponge at the health center are explained. If evidence of sperm are found, the patient is advised to continue use of contraception until a negative sponge is obtained. A comparative study was done using different blotting materials. Sponges were found to be the best material. Results from the dried sponges were found consistent with direct semen examination. The method has been found to be reliable and convenient.^ieng