Outcome of delayed adjustable strabismus surgery in children using a bow-tie optional adjustable technique.

PURPOSE: The aim of this article is to study the feasibility of a delayed adjustable technique of strabismus surgery in children using an optional adjustable suture technique. METHODS: The retrospective study included patients <12 years of age. Recessions were done using an optional adjustable bow-tie technique and resections were done by the conventional technique. Patients were evaluated on the third postoperative day and adjustments done when needed. Statistical analysis was done using Microsoft Excel 2010®. RESULTS: The study included 11 patients with exotropia and 16 patients with esotropia. The mean age of the patients was 5.2 years (range 1-11 years). The mean preoperative distance deviation was 46.7 ± 10.4 prism diopters (PD) for exotropic patients and 47.1 ± 16.9 PD for esotropic patients. The mean preoperative near deviation was 46.6 ± 11 PD for exotropic patients and 52.4 ± 17.1 PD for esotropia. Two patients with exotropia (18.2%) and four patients with esotropia (25%) were adjusted under intravenous ketamine in the operating room under anesthetist supervision. No difficulty was encountered in advancing/recessing the muscles. The success rate at 1 month was 100% for exotropia and 87.5% for esotropia. The success rate at the final follow-up was 81.8% for patients with exotropia and 68.7% for patients with esotropia. CONCLUSIONS: This delayed optional adjustable strabismus surgery technique provides good short-term results and lower adjustment rates.

Induced mutagenesis in Jatropha curcas L. using gamma rays and detection of DNA polymorphism through RAPD marker.

The aim of this study is to examine the effect of different doses (control, 5, 10, 15, 20 and 25 Kr) of gamma irradiation on seed germination, flowering, fruit and seed traits of Jatropha curcas and to identify DNA polymorphism among the mutants through a Randomly Amplified Polymorphic DNA (RAPD) marker analysis. The improved agronomic traits such as flowering, fruits and seeds were recorded in 5 Kr dose and seed germination percentage in 10 Kr dose treated plants, while corresponding parameters were reduced significantly (P>0.05) in 25 Kr dose gamma rays treated plants when compared to that of control. All the twenty-three random primers used except six primers, namely OPAW16, OPAK07, OPAK15, OPS01, OPAK20 and OPAL09 were showed polymorphic bands. The primers: OPAW16, OPAK07, OPAK15, OPS01, OPAK20 and OPAL09 produced only one band each across the six mutants, while the primers: OPU13, OPAB 15, OPF01 and OPAB11 were produced with maximum number of bands (8). The number of amplicons varied from 1 to 8 with an average of 3.9 bands, of which 2.3 were polymorphic. The percentage of polymorphism per primer ranged from 0 to 100 with an average of 55.16%. The Jaccard's coefficients of dissimilarity varied from 0.324 to 0.397, indicative of the level of genetic variation among the mutants studied. The maximum dissimilarity value (0.397) was observed in 5 Kr mutant while the minimum value (0.250) was observed in 20 Kr mutant when compared to that of control. In a dendrogram constructed based on genetic similarity coefficients, the mutants were grouped into three main clusters; (a) control, 10, 15 and 20 Kr dose mutants clustered together, (b) 25 Kr dose grouped alone, (c) 5 Kr dose also grouped alone. The mutants showing the differences in morphological traits showed DNA polymorphism in PCR profile amplified by RAPD marker. It is concluded that DNA polymorphism detected by RAPD analysis offered a useful molecular marker for the identification of mutants in gamma radiation treated plants.

Chromium stress induced alterations in biochemical and enzyme metabolism in aquatic and terrestrial plants.

Water is seriously polluted by the discharge of various industrial wastewater containing heavy metals. Among them, chromium is considered to be toxic to living organisms and it is released mostly from tanneries. The chromium-contaminated water is discharged into nearby water bodies and it affects both aquatic and terrestrial plants. So the present experiment was conducted with an aquatic plant, water lettuce (Pistia stratiotes L.) and a terrestrial plant soybean (Glycine max L. Merr.). They were treated with different concentrations (0, 5, 10, 25, 50, 100 and 200mg/L) of potassium dichromate solution. The biochemical parameters such as total chlorophyll, carotenoid, protein and amino acid content and the enzymatic activities like catalase and peroxidase were estimated. The accumulation of chromium was also analysed in both the plants. All the biochemical contents and enzyme activities of water lettuce and soybean seedlings showed a great variation with respect to the increase in chromium concentrations. The accumulation of chromium increased gradually with the increase of chromium concentrations. Total inhibition of all the parameters were observed at 300 mg/L chromium concentration. The terrestrial plant soybean was sensitive than the aquatic plant water lettuce towards chromium stress.

Coblation tonsillectomy versus dissection tonsillectomy: postoperative hemorrhage.

OBJECTIVES/HYPOTHESIS: Coblation tonsillectomy is a recently introduced surgical technique. To measure its benefits against traditional tonsillectomy techniques, it is necessary to compare their complication rates. The study aims to identify differences in reactionary and secondary hemorrhage proportions, comparing coblation with dissection tonsillectomy. STUDY DESIGN: Prospective observational cohort study. METHODS: Rates of reactionary and delayed postoperative hemorrhage were measured, comparing 844 coblation tonsillectomies with a control group of 743 tonsillectomies performed by blunt dissection with bipolar diathermy hemostasis. RESULTS: The secondary hemorrhage rate with coblation-assisted tonsillectomy was 2.25% compared with 6.19% in the control group (P <.05). The rate of secondary hemorrhage in children following coblation tonsillectomy was 0.95% compared with 4.77% in the control group (P <.05). The difference was also significant (P <.05) in the adult population (4.40% vs. 8.81%, respectively). No difference was found in the reactionary hemorrhage proportions. CONCLUSION: In the study, coblation tonsillectomy was associated with a lesser incidence of delayed hemorrhage, more significantly in the pediatric population. The new technique using tissue coblation for tonsil dissection offers significant advantages in the postoperative period compared with dissection tonsillectomy with bipolar diathermy hemostasis. Coblation is associated with less postoperative pain and early return to daily activities. Also, there are fewer secondary infections of the tonsil bed and significantly lower rates of secondary hemorrhage with coblation. These results and the disposable nature of the coblation equipment promote coblation tonsillectomy as the authors' preferred dissection method.

Rarity of CDK4 germline mutations in familial melanoma.

To date, two genes have been implicated in melanoma pathogenesis. The first, CDKN2A, is a tumour suppressor gene with germline mutations detected in 20% of melanoma-prone families. The second, CDK4, is an oncogene with co-segregating germline mutations detected in only three kindreds worldwide. We examined 16 American melanoma-prone families for mutations in all coding exons of CDK4 and screened additional members of two previously reported families with the Arg24Cys germline CDK4 mutation to evaluate the penetrance of the mutation. No new CDK4 mutations were identified. In the two Arg24Cys families, the penetrance was estimated to be 63%. Overall, 12 out of 12 invasive melanoma patients, none out of one in situ melanoma patient, five out of 13 dysplastic naevi patients, two out of 15 unaffected family members, and none out of 10 spouses carried the Arg24Cys mutation. Dysplastic naevi did not strongly co-segregate with the Arg24Cys mutation. Thus the phenotype observed in melanoma-prone CDK4 families appears to be more complex than just the CDK4 mutation. Both genetic and environmental factors are likely to contribute to the occurrence of melanoma and dysplastic naevi in these families. In summary, although CDK4 is a melanoma susceptibility gene, it plays a minor role in hereditary melanoma.

Anticipated absence from work ('sick leave') following routine ENT surgery: are we giving the correct advice? A postal questionnaire survey.

In the UK patients who undergo common ear, nose and throat (ENT) operations, and are employed, are advised to take 2 weeks sick leave before returning to their employment. A retrospective postal questionnaire survey (of adult patients who had undergone four common specific ENT operations) was conducted, to validate whether this preoperative advice given, was appropriate, and to attempt to assess the patient factors, which influenced the amount of postoperative absence from work. Among 218 questionnaires sent, 156 (71.6%) responses were returned and 132 (60.6%) were used. Analysis of the data for absence from work, showed that 58.3% had taken 2 weeks. The majority of patients (70.5%) stated that 2 weeks absence following their surgery was appropriate, whereas 5.3% reported that the period was excessive and 24.2% felt that it was inadequate. Postoperative pain (30.3%), infection (30.3%), bleeding (7.6%) and other causes (15.2%) were reported as the reasons for the delay to return to work. Nearly 31% of men and 55% of women had taken > 2 weeks of sick leave. In conclusion, the current practice of advising employed adults to take 2 weeks time off work following routine ENT surgery is appropriate. However, nearly 42% had taken > 2 weeks to return to their employment. Patients who underwent tonsillectomy and laser palatoplasty in general, required more time to recuperate prior to returning to work, when compared to those who had undergone septoplasty and functional endoscopic sinus surgery (FESS). Postoperative pain and infection were reported to be the main reasons for the delay in returning to work. Men, and self-employed patients returned to work earlier than women and other employed groups.

Mesenchymal chondrosarcoma of the maxilla.

Mesenchymal chondrosarcoma (MC) is a rare tumour, with a predilection for the head and neck region. We describe a case of mesenchymal chondrosarcoma arising in the right maxilla extending to the basi-sphenoid. Its computed tomography (CT) and magnetic resonance imaging (MRI) and histopathological features and the management are presented. We also reviewed the literature of reported cases involving the maxilla.

Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations.

BACKGROUND: Two genes have been implicated in the development of cutaneous malignant melanoma (CMM). CDK4 (the gene encoding cyclin-dependent kinase 4, an oncogene) has exhibited germline mutations found in only three melanoma-prone families to date. CDKN2A is a tumor suppressor gene that encodes p16 (which inhibits activity of the cyclin D1-CDK4 complex) with germline mutations detected in 10%-25% of melanoma-prone families, some of whom are also prone to pancreatic cancer. METHODS: We compared 104 CMM patients from 17 CDKN2A families and 12 CMM case subjects from two CDK4 families. We used nonparametric statistics to test for differences in median age at first CMM diagnosis, numbers of CMMs, and numbers of nevi. The three recurrent mutations were haplotyped. All P values were two-sided. RESULTS: The median age at CMM diagnosis (P =.70) and the median numbers of CMMs (P =.73) did not differ between CMM case subjects from CDKN2A versus CDK4 families. Assessment of CMM case subjects from CDKN2A families with and without pancreatic cancer revealed no statistically significant differences in median age at diagnosis (P =.80) or in tumor number (P =.24). There was, however, a statistically significant difference in age-adjusted median numbers of nevi (P =.004), and CMM case subjects from CDKN2A families without pancreatic cancer had greater numbers of nevi. Recurrent CDKN2A mutations were a change from valine to aspartic acid at codon 126 (n = 3) and from glycine to tryptophan at codon 101 (n = 3). Six CDKN2A families had pancreatic cancer. Both CDK4 families carried a mutation resulting in an arginine-to-cysteine substitution at codon 24. Analyses of recurrent CDKN2A and CDK4 mutations suggested common haplotypes. CONCLUSIONS: The recurrent CDKN2A mutations were observed in families with and without pancreatic cancer, which suggests that other factors may be involved in the development of pancreatic cancer. Despite hypothetical differences in the mechanisms of action between CDKN2A and CDK4, clinical factors were indistinguishable between CMM case subjects from CDKN2A versus CDK4 families.

Primary hepatic lymphoma in hepatitis C: case report and review of the literature.

Primary B-cell lymphoma of the liver is an extremely rare tumor. The higher incidence of hepatocellular carcinoma in hepatitis C is well known, but the relationship with lymphoma is unclear. An increased incidence has been reported in patients with chronic hepatitis C. Hepatitis C virus is known to be a lymphotropic virus. Mixed cryoglobulinemia, which is a benign lymphoproliferative disorder, has a definite association with hepatitis C. It is postulated that the virus may also induce a malignant transformation. We describe an unusual presentation of a case of asymptomatic left hepatic mass in a patient with hepatitis C with a preoperative diagnosis of hepatocellular carcinoma. He underwent a left lateral segmentectomy, and the pathologic examination revealed non-Hodgkin's lymphoma. The clinical features, radiologic investigations, and pathologic findings are presented. A review of the literature discussing clinical features, postulated pathogenetic mechanisms, and management options is also presented.

Assignment of the mouse and cow CXC chemokine genes.

Gene specific PCR primers were constructed for five mouse and three bovine CXC chemokine genes. The mouse genes were assigned using SSCP analyses of the Jackson BSS backcross panel to two groups on chromosome 5. One group containing Gro1 and Mip2 cosegregated with reference markers Alb1 and Btc, and was positioned 2.2 cM proximal to a group comprising Ifi10, Mig, and Scyb5. The bovine genes IL8, GRO1, and GRO3, mapped using bovine x hamster somatic cell hybrids, were all found to be located on chromosome 6. The locations of these genes in these two animal species are consistent with the positions in humans (4q13-->q21), and previous syntenic relationships among these three mammals.

Effects of hyperventilation and hypoventilation on PaCO2 and intracranial pressure during acute elevations of intraabdominal pressure with CO2 pneumoperitoneum: large animal observations.

BACKGROUND: The side effects of acute elevations in intraabdominal pressure (IAP) are related to a multifactorial etiology. Previous studies have reported that acute elevations in IAP produce an immediate increase in intracranial pressure (ICP). This study was designed to analyze the reasons for increased ICP during acute elevations of IAP and to determine the combined effects of IAP and changes in ventilation indices on ICP and hemodynamic indices. STUDY DESIGN: Five pigs were studied. A subarachnoid screw was placed for ICP monitoring. The jugular vein, femoral vein, and femoral artery were cannulated. Mean arterial pressure (MAP), central venous pressure (CVP), ICP, and arterial pressure of carbon dioxide (PaCO2) were monitored before and after carbon dioxide pneumoperitoneum was established at 0, 10, and 20 mmHg of IAP Effects of hyperventilation and hypoventilation were recorded and compared with baseline ventilation. Cavography was performed to evaluate the morphology of the inferior vena cava (IVC) at different levels of IAP. Multiple regression and Student's t-test were used to examine the effects of IAP and ventilation on dependent variables. RESULTS: The IVC showed a progressive narrowing at the level of the diaphragm as IAP was increased. There was a simultaneous increase in CVP, MAP, and ICP. The mean changes in ICP with hypoventilation were significantly larger than with hyperventilation. CONCLUSIONS: Acutely increased IAP displaces the diaphragm cranially, narrowing the IVC and increasing intrathoracic pressure. This increases CVP and increases ICP by venous stasis and increased pressure in the sagittal sinus with decreased resorption of cerebrospinal fluid. Hemodynamic changes are directly related to the rise in ICP. Hypoventilation and hypercarbia significantly increase ICP when compared with hyperventilation and hypocarbia. Hyperventilation does not significantly decrease ICP during acute elevations of IAP.

Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.

Hereditary papillary renal carcinoma (HPRC) is a recently recognized form of inherited kidney cancer characterized by a predisposition to develop multiple, bilateral papillary renal tumours. The pattern of inheritance of HPRC is consistent with autosomal dominant transmission with reduced penetrance. HPRC is histologically and genetically distinct from two other causes of inherited renal carcinoma, von Hippel-Lindau disease (VHL) and the chromosome translocation (3;8). Malignant papillary renal carcinomas are characterized by trisomy of chromosomes 7, 16 and 17, and in men, by loss of the Y chromosome. Inherited and sporadic clear cell renal carcinomas are characterized by inactivation of both copies of the VHL gene by mutation, and/or by hypermethylation. We found that the HPRC gene was located at chromosome 7q31.1-34 in a 27-centimorgan (cM) interval between D7S496 and D7S1837. We identified missense mutations located in the tyrosine kinase domain of the MET gene in the germline of affected members of HPRC families and in a subset of sporadic papillary renal carcinomas. Three mutations in the MET gene are located in codons that are homologous to those in c-kit and RET, proto-oncogenes that are targets of naturally-occurring mutations. The results suggest that missense mutations located in the MET proto-oncogene lead to constitutive activation of the MET protein and papillary renal carcinomas.

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to the 2-cM (centiMorgan) interval at 1p13-p21 previously shown by linkage analysis to harbour the STGD gene. This gene, ABCR, is expressed exclusively and at high levels in the retina, in rod but not cone photoreceptors, as detected by in situ hybridization. Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage. These data indicate that ABCR is the causal gene of STGD/FFM.

Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel-type zinc finger sequence on chromosome segment 9q22.3.

Gorlin's syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a familial or hereditary predisposition to basal cell carcinomas (generally multiple and of early onset), odontogenic keratocysts (jaw cysts), palmar and plantar pits, a wide variety of developmental defects, as well as cancers such as medulloblastomas and ovarian fibromas. The gene for NBCCS has been mapped to human chromosome region 9q22.1-q31 by linkage analysis and by cytogenetic evidence of deletions in this region in patients with the syndrome. This is supported by loss of heterozygosity in tumors of polymorphic marker loci flanked by D9S197 and D9S180. We have utilized sequence tagged site (STS) mapping and somatic cell hybrid panel analysis to construct two overlapping yeast artificial chromosome (YAC) contigs spanning this region of the genome. We used the YAC contigs to identify a new zinc finger gene containing a highly informative microsatellite locus.

Pulsed-field gel electrophoresis and FISH mapping of chromosome 9q22: placement of a novel zinc finger gene within the NBCCS and ESS1 region.

Chromosome 9q22 is a gene-rich region to which several human disease loci have been mapped. Pulsed field gel electrophoresis (PFGE) and FISH were used to determine the order of and distance between 12 chromosome 9q22 markers flanked by D9S196 and D9S180. D9S780 and XPA were within 190 kb of each other and hybridized to the same 460-kb NotI fragment as D9S180. ZNF169, a novel kruppel-type gene, and D9S280 shared several PFGE fragments indicating that they are not more than 300 kb apart. Interphase FISH showed that COL15A1 lies distal to the region bounded by D9S180 and D9S196 and that ZNF169 is adjacent to D9S196. Based on the restriction fragment lengths in this region and estimates from FISH, the distance from D9S180 to D9S196 is not less than 2 Mb.

Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

The nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome, is a multisystem autosomal dominant disorder. The salient features of this syndrome include multiple basal cell carcinomas, palmar and/or plantar pits, odontogenic keratocysts, skeletal and developmental anomalies, and ectopic calcification. Other features include such tumors as ovarian fibromas and medulloblastomas. There is extensive interfamilial as well as intrafamilial variability with respect to the manifestation and severity of the phenotype. Alterations in the human homologue (PTCH) of the Drosophila segment polarity gene patched have been identified in NBCCS patients as well as tumors associated with this syndrome. We report several mutations in this gene in NBCCS patients and present the clinical phenotypes of the individuals in whom these mutations were identified.