Gastrocolic fistula after laparoscopic sleeve gastrectomy: Case report and literature review.

INTRODUCTION: Laparoscopic sleeve gastrectomy is a popular bariatric procedure. Leakage after sleeve gastrectomy is the cornerstone for most of its related morbidity and mortality. Gastrocolic fistula is a rare complication resulting from chronic leak after laparoscopic sleeve gastrectomy. CASE PRESENTATION: We report a case of 32-year-old male who underwent laparoscopic re-sleeve gastrectomy for weight regain after initial uneventful laparoscopic sleeve gastrectomy 3 years back. He presented to emergency department by septic shock secondary to leakage after sleeve gastrectomy. CT abdomen with IV contrast and oral gastrograffin confirmed post sleeve gastrectomy leak. Emergency diagnostic laparoscopy revealed a huge abscess cavity containing pus and dark fecal material and altered blood. A long leak was identified with eversion of gastric mucosa. Tubular structure connecting the upper part of the stomach and the colon was found which turned out to be a gastrocolic fistula. It was controlled by endoscopic linear stapler. After 6 weeks, a definitive open esophago-jeujonostomy with total gastrectomy was done successfully after difficult attempt of laparoscopic intervention. The patient was discharged home in a stable condition. CONCLUSION: A high index of suspicion is important in detection of rare complications after laparoscopic sleeve gastrectomy including gastrocolic fistula. Complete laparoscopic resection of gastrocolic fistula is preferred. Gastrectomy might be the definitive surgery.

Incidentally discovered huge retroperitoneal mucinous cystadenoma with successful laparoscopic management: Case report.

INTRODUCTION: Retroperitoneal cystic lesions are uncommon heterogeneous clinical entities with no definite incidence. Their clinical presentations are different and their diagnosis is challenging. The management necessitates complete surgical excision, usually via laparotomy. Recently, laparoscopic approach is being increasingly used. CASE PRESENTATION: A 29-year-old female patient was referred for an incidentally-discovered huge retroperitoneal cyst. Imaging studies revealed a retroperitoneal cyst, measuring 13 * 11 cm. Diagnostic laparoscopy showed a retroperitoneal cyst displacing the small bowel and the right colon to the left side. The peritoneal covering was dissected from the cyst with caution not to cause cyst rupture. The cyst was removed partially using Endobag, then aspiration of its content to facilitate its delivery. The patient had a smooth uneventful postoperative course. DISCUSSION: The retroperitoneal space is large, expandable space which enables retroperitoneal cystic lesions to grow asymptomatic. CT scan remains the best imaging modality. Aspiration of its content is not routinely done as its sensitivity and specificity has been reported low. Moreover, it carries the risk of leakage of the cyst content into the peritoneal space. Open surgical complete excision is the traditional management and remains of choice. However, laparoscopic management can be tried with caution not to cause content spillage. Intraoperatively, controlled aspiration of the cyst helps in its retrieval. CONCLUSION: Primary retoperitoneal mucinous cystadenoma is a rare clinical entity that is usually incidentally discovered. Laparoscopic excision is safe and feasible if done by an expert laparoscopic surgeon. Care should always be taken not to cause spillage of its content.

Faecal bacterial and short-chain fatty acids signature in hypercholesterolemia.

Gut microbiota has been suggested to affect lipid metabolism. The objective of this study was to characterize the faecal microbiota signature and both short chain fatty acids (SCFAs) and bile acids (BA) profile of hypercholesterolemic subjects. Microbiota composition, SCFAs, BA and blood lipid profile from male volunteers with hypercholesterolemia (HC) and normocholesterolemia (NC) were determined by 16S rDNA sequencing, HPLC, GC and NMR, respectively. HC subjects were characterized by having lower relative abundance of Anaeroplasma (0.002% vs 0.219%, p-value = 0.026) and Haemophilus (0.041% vs 0.078%, p-value = 0.049), and higher of Odoribacter (0.51% vs 0.16%; p-value = 0.044). Correlation analysis revealed that Anaeroplasma and Haemophilus were associated to an unfavourable lipid profile: they correlated negatively to cholesterol and triglycerides related biomarkers and the ratio total to high density lipoprotein (HDL) cholesterol, and positively to HDL size. Odoribacter displayed an opposite behaviour. Faecal SCFAs profile revealed higher abundance of isobutyric (2.76% vs 0.82%, p-value = 0.049) and isovaleric acid (1.32% vs 0.06%, p-value = 0.016) in HC. Isobutyric acid correlated positively with Odoribacter and lipid parameters indicative of an unfavourable profile. BA profile did not show differences between groups. It was concluded that HC subjects showed a particular faecal bacterial signature and SCFAs profile associated with their lipid profile.

Laparoscopic management of appendicular mucinous cystadenoma, case report.

INTRODUCTION: Appendectomy is the most common emergency surgical procedure performed worldwide. Mucinous cystadenoma is a rare benign tumor of the appendix. There is no agreement on the best surgical approach for its management. Recently, laparoscopic approach is being increasingly tried. Careful excision of the tumor is mandatory to avoid content spillage into peritoneum resulting in pseudomyxoma peritonei. CASE PRESENTATION: A middle-age male patient presented to the emergency department complaining of chronic abdominal pain, bleeding per rectum and recurrent attacks of vomiting. Preoperative imaging confirmed presence of cystic lesion in the right lower quadrant. He underwent a diagnostic laparoscopy with resection of appendicular mucocele. The histopathological examination confirmed the diagnosis of appendicular mucinous cystadenoma. He was followed up in the clinic for two years. CONCLUSION: Appendicular mucinous cystadenoma should be considered in differential diagnosis of cystic mass detected in the right lower quadrant of the abdomen on US or CT. Laparoscopic excision of the tumor is safe and feasible with extra care taken to avoid pseudomyxoma peritonei.'

Laparoscopic management for gallstone ileus, case report.

INTRODUCTION: Gallstone ileus is a rare complication of cholelithiasis leading to small intestinal obstruction. Elderly females are commonly affected more than male. The diagnosis of this condition is challenging and Rigler's triad is pathognomonic. Surgery is mandatory with no clear consensus about the best surgical approach that should be adopted. CASE PRESENTATION: An elderly female patient, with no previous history of biliary diseases, presented with small bowel obstruction. Contrast enhanced computed tomography of the abdomen showed the classical Rigler's triad. Total laparoscopic enterolithotomy was performed successfully. She had smooth postoperative course and she was followed up regularly without occurrence of any biliary disease symptoms during the follow up period. CONCLUSION: Gallstone ileus should be considered in differential diagnosis of small bowel obstruction mainly in old females with no previous history of abdominal surgery. Laparoscopic enterolithotomy is safe, feasible and effective when performed by experienced surgeons.

Effect of rosuvastatin on dyslipidemia and other parameters associated with metabolic syndrome in Saudi patients.

CONTEXT: Metabolic syndrome (MS) is a constellation of metabolic irregularities consisting of dyslipidemia, hypertension, hyperglycemia, chronic inflammatory, and hypercoagulable state predisposing to diabetes and cardiovascular events. Statins are first-line drugs to treat the associated atherogenic dyslipidemia. AIM: Effect of rosuvastatin on MS in Saudi patients was studied. SETTINGS AND DESIGN: Prospective, open label, randomized clinical study. MATERIALS AND METHODS: Patients of either sex ≥18 years (n = 153) having MS as per modified National Cholesterol Education Program Adult Treatment Panel III criteria were prescribed rosuvastatin 10 mg OD for 24 weeks. Serum lipids, biochemical, clinical, and anthropometric parameters were studied before and after treatment. STATISTICAL ANALYSIS USED: Statistical Package for Social Sciences version17 was used. Descriptive analysis was used for all variables and documented as mean ± SD. Normality checked by Shapiro-Wilk test, Kurtosis and Skewness Z-score, and visualization of histograms. Lipid levels and other parameters before and after treatment were evaluated by paired t-test for parametric data and Wilcoxon signed rank test for nonparametric data. Pre- and post-test values were correlated by Pearson's correlation coefficient. Multiple regression analysis was performed to see effect of other variables. RESULTS: Highly significant reduction was observed in low density lipoprotein cholesterol, total cholesterol, triglycerides; very low density lipoprotein cholesterol, non-high density lipoprotein cholesterol and atherosclerotic index with an elevation in high density lipoprotein cholesterol. A total of 86% patients reached low density lipoprotein cholesterol goal of ≤ 100 mg/dL. Beneficial response was observed on other associated parameters. There was strong correlation between pre- and post values. No significant effect was observed for any of the variables on cholesterol reduction. No serious/severe adverse effect was observed. CONCLUSION: Rosuvastatin markedly improved atherogenic dyslipidemia of MS.

Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia.

BACKGROUND: Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental aneuploidy of chromosome 7 due to heterozygous deletion of contiguous genes at the long arm of chromosome 7q11.23. We aimed to apply array-CGH technique for the detection of copy number variants in suspected WBS patients and to determine the size of the deleted segment at chromosome 7q11.23 in correlation with the phenotype. The study included 24 patients referred to the CEGMR with the provisional diagnosis of WBS and 8 parents. The patients were subjected to conventional Cytogenetic (G-banding) analysis, Molecular Cytogenetic (Fluorescent In-Situ Hybridization), array-based Comparative Genomic Hybridization (array-CGH) and quantitative Real time PCR (qPCR) Techniques. RESULTS: No deletions were detected by Karyotyping, however, one patient showed unbalanced translocation between chromosome 18 and 19, the karyotype was 45,XX, der(19) t(18;19)(q11.1;p13.3)-18. FISH technique could detect microdeletion in chromosome 7q11.23 in 10/24 patients. Array-CGH and qPCR confirmed the deletion in all samples, and could detect duplication of 7q11.23 in three patients and two parents. Furthermore, the size of the deletion could be detected accurately by both array-CGH and qPCR techniques. Three patients not showing the 7q11.23 deletion were diagnosed by array-CGH to have deletion in chr9p13.1-p11.2, chr18p11.32-p11.21 and chr1p36.13. CONCLUSION: Both FISH and array-CGH are reliable methods for the diagnosis of WBS; however, array-CGH has the advantage of detection of genome deletions/ duplications that cannot otherwise be detected by conventional cytogenetic techniques. Array-CGH and qPCR are useful for detection of deletion sizes and prediction of the interrupted genes and their impact on the disease phenotype. Further investigations are needed for studying the impact of deletion sizes and function of the deleted genes on chromosome 7q11.23. TRIAL REGISTRATION: ISRCTN ISRCTN73824458. MOCY-D-16-00041R1. Registered 28 September 2014. Retrospectively registered.

BK polyomavirus association with colorectal cancer development.

The development of human neoplasms can be provoked by exposure to one of several viruses. Burkitt lymphoma, cervical carcinoma, and hepatocellular carcinoma are associated with Epstein-Barr, human papilloma, and hepatitis B virus infections, respectively. Over the past three decades, many studies have attempted to establish an association between colorectal cancer and viruses, with debatable results. The aim of the present research was to assess the presence of BK polyomavirus (BKV) DNA and protein in colorectal cancer samples from patients in the Western Province of Saudi Arabia. DNA extracted from archival samples of colorectal cancer tissues was analyzed for BKV sequences using polymerase chain reaction (PCR)-based techniques. In addition, expression of a BKV protein was assessed using immunohistochemical staining. None of the tumor and control samples examined tested positive for BKV DNA in PCR assays. Furthermore, immunohistochemical staining failed to detect viral proteins in both cancer and control specimens. These results may indicate that BKV is not associated with the development of colorectal adenocarcinoma in patients in the Western Province of Saudi Arabia.

GSTM1 gene polymorphism and the risk of colorectal cancer in a Saudi Arabian population.

The enzyme glutathione S-transferase Mu 1 (GSTM1) is encoded by the GSTM1 gene. Polymorphisms in GSTM1 affect the detoxifying function of the enzyme variants. This forms the basis of the debate about the impact of the GSTM1 null/present genotype on colorectal carcinoma risk. We tested the potential influence of GSTM1 polymorphisms on the development of colorectal cancer. DNA extracted from 83 samples taken from patients that were previously diagnosed as having colorectal carcinoma and from 35 control subjects who did not have colorectal carcinoma were amplified. GSTM1 genotypes were determined by DNA sequencing. The current study revealed that the majority (69/83, 83%) of colorectal cancer cases harbored the null genotype (GSTM1*0/*0), and the remaining 14 (17%) cases harbored either the GSTM1wt/wt or the GSTM1wt/*0 genotype. In contrast, among the control cases, 23 (65%) had the null genotype (GSTM1*0/*0) and 12 (35%) had either the GSTM1wt/wt or the GSTM1wt/*0 genotype. The current report emphasizes the impact of the GSTM1 null genotype on the increased risk of colorectal carcinoma in Saudi Arabia.

Seguimiento en Atención Primaria de los recién nacidos con enfermedad falciforme detectados en el cribado neonatal de la Comunidad de Madrid / Primary care follow-up of newborns with sickle cell disease detected in neonatal screening in the Community of Madrid

OBJETIVO: El objetivo principal del estudio fue evaluar desde Atención Primaria la repercusión del programa preventivo recomendado en la población afectada de enfermedad falciforme: profilaxis antibiótica, vacunaciones y educación sanitaria, tras la implantación del programa de cribado neonatal universal de anemia falciforme en la Comunidad de Madrid. PACIENTES Y MÉTODOS: Se realizó un estudio transversal observacional con recogida de información retrospectiva de una cohorte de niños con enfermedad falciforme diagnosticados por la prueba de cribado neonatal en la Comunidad de Madrid. RESULTADOS: Se obtuvieron datos de una muestra de 20 pacientes. El 95% de ellos fueron diagnosticados por la prueba de cribado neonatal realizado entre los 5 y 13 días de vida. La edad media de los pacientes cuando se realizó el estudio fue de 39 meses. En el seguimiento de estos pacientes desde Atención Primaria, se objetivó un cumplimiento de la profilaxis antibiótica del 90% y una cobertura del calendario vacunal oficial del 85%. La cobertura de vacunas específicas: 85% neumococo 23V, 50% gripe y 15% hepatitis A. El reconocimiento de haber recibido educación sanitaria solo alcanzó a una de cada 4 familias. CONCLUSIONES: En el seguimiento de los pacientes con anemia falciforme en Atención Primaria, se objetivó un aceptable cumplimiento de la profilaxis antibiótica, pero unas bajas coberturas tanto de las inmunizaciones sistemáticas como de las inmunizaciones específicas. La cobertura de educación sanitaria fue muy baja. Para mejorar estos parámetros, sería necesaria una mayor coordinación e implicación de los profesionales de Atención Primaria con el fin de que estos pacientes tengan un seguimiento adecuado y que ello se traduzca en una disminución de las complicaciones de esta enfermedad y una mejoría en la calidad de vida

OBJECTIVES: The main aim of the study was to assess the effects of the recommended preventive program in the population affected with Sickle Cell Disease in Primary Care. The program included, antibiotic prophylaxis, immunizations and health education, following the introduction of universal neonatal screening program for Sickle Cell Disease in the Community of Madrid. PATIENTS AND METHODS: A cross-sectional observational study was performed with retrospective data collected from a cohort of newborns with Sickle Cell Disease diagnosed by neonatal screening test in the Community of Madrid. RESULTS: From the data obtained from a sample of 20 patients, it was found that 95% had been diagnosed by the newborn screening test performed between 5 and 13 days of life. The mean age was 39 months when the study was conducted. During follow-up, from Primary Care Paediatric clinic, it was observed that the compliance for antibiotic prophylaxis was 90%, and the coverage for the official vaccination schedule was 85%. Specific vaccine coverage as a risk population was highly variable (85% for pneumococcal 23V, 50% for influenza, and 15% for hepatitis A). Health education only reached one in every four families. CONCLUSIONS: Acceptable compliance with antibiotic prophylaxis was observed during the follow-up of patients with sickle cell disease in Primary Care, but a low coverage of routine immunization, as well as specific immunizations. Coverage of health education was very low. Improving these parameters would require greater coordination and involvement of Primary Care Professionals so that these patients were followed up appropriately, and could be translated into a reduction of disease complications and an improvement in the quality of life of these patients

[Primary care follow-up of newborns with sickle cell disease detected in neonatal screening in the Community of Madrid]. / Seguimiento en Atención Primaria de los recién nacidos con enfermedad falciforme detectados en el cribado neonatal de la Comunidad de Madrid.

OBJECTIVES: The main aim of the study was to assess the effects of the recommended preventive program in the population affected with Sickle Cell Disease in Primary Care. The program included, antibiotic prophylaxis, immunizations and health education, following the introduction of universal neonatal screening program for Sickle Cell Disease in the Community of Madrid. PATIENTS AND METHODS: A cross-sectional observational study was performed with retrospective data collected from a cohort of newborns with Sickle Cell Disease diagnosed by neonatal screening test in the Community of Madrid. RESULTS: From the data obtained from a sample of 20 patients, it was found that 95% had been diagnosed by the newborn screening test performed between 5 and 13 days of life. The mean age was 39 months when the study was conducted. During follow-up, from Primary Care Paediatric clinic, it was observed that the compliance for antibiotic prophylaxis was 90%, and the coverage for the official vaccination schedule was 85%. Specific vaccine coverage as a risk population was highly variable (85% for pneumococcal 23V, 50% for influenza, and 15% for hepatitis A). Health education only reached one in every four families. CONCLUSIONS: Acceptable compliance with antibiotic prophylaxis was observed during the follow-up of patients with sickle cell disease in Primary Care, but a low coverage of routine immunization, as well as specific immunizations. Coverage of health education was very low. Improving these parameters would require greater coordination and involvement of Primary Care Professionals so that these patients were followed up appropriately, and could be translated into a reduction of disease complications and an improvement in the quality of life of these patients.

External vs. endonasal dacryocystorhinostomy: has the current view changed?

In past years, external dacryocystorhinostomy has been considered the gold standard in terms of functional outcome for treatment for nasolacrimal duct obstruction. In comparison, interest in the use of the recently developed endonasal dacyocystorhinostomy procedure has been rekindled because of advances in instrumentation. For the past 10 years, differences in the outcomes between the two techniques have been reduced; thus, currently, the choice of the type of surgery is associated with the experience of the surgeon, resources available in the healthcare system and patient preferences.

Intraorbital injection of rituximab: a new approach for active thyroid-associated orbitopathy, a prospective case series.

AIM: The aim of this paper was to examine the efficacy and the safety of intraorbital administration of the monoclonal anti-CD20 antibody rituximab (RTX) to treat patients affected by thyroid-associated orbitopathy (TAO) unresponsive to conventional therapy. METHODS: Five patients with active moderately-severe TAO unresponsive to systemic glucocorticoids were studied. After a complete ophthalmological examination, disease activity and severity were assessed by the clinical activity score (CAS) and the NO SPECS scoring system. Computed tomography scans were performed in all patients. Patients were treated with intraorbital injection of RTX 10 mg once a week for one month repeated once one month apart. The patients were followed every three months until 18 months. RESULTS: In all patients treated with RTX, CAS was significantly reduced (p< 0,005), inactive phase of TAO was reached in four out of five patients. No patients experienced major side effects, minor side effects were reported in two patients. CONCLUSION: Intraorbital injection of RTX is a safe and useful promising therapeutic option for active TAO.

[Clinic use of Laser Doppler Flowmetry (LDF) in the study of subfoveal choroidal circulation]. / Impiego clinico del Laser Doppler Flussometria (LDF) nello studio della circolazione coroideale sottofoveale.

Today our knowledge of the choroidal circulation is limited: we know its anatomy, but, on the other hand, its physiopathology remains to be fully. The choroid is involved in a number of important ocular diseases. The Laser Doppler Flowmetry (LDF) is a technique that allows non-invasive measurement of haemodynamic parameters of the subfoveal choroidal circulation. It is easy to use in daily clinic activity. The aim of this mini-review is to describe LDF studies of the choroidal circulation performed in healthy subjects under different environmental conditions, in subjects with ocular diseases, as well as studies of the effects of various drugs can induce on this circulation.

Frequency of Mediterranean mutation among a group of Saudi G6PD patients in Western region-Jeddah.

Glucose-6-phosphate dehydrogenase deficiency (G6PD), a common human enzymatic defects characterized by extreme molecular and biochemical heterogeneity is found to have a variable frequency in different regions. The molecular basis of polymorphic variants in Saudi Arabia have yet to be fully addressed to. Accordingly, a study was designed to determine the frequency of G6PD gene mutations in G6PD deficient cases. From forty-seven unrelated G6PD-deficient subjects, DNA was extracted individually from peripheral blood samples and exons 6 and 7 of the G6PD gene were amplified by PCR. Mutation analysis was carried out by using conformation sensitive gel electrophoresis (CSGE), followed by direct DNA sequencing. The results showed definite altered CSGE patterns. Two mutations were resolved in exon 6 of G6PD gene; Mediterranean mutation and Sibari mutation, not previously reported so far; while no mutation was detected in exon 7. The frequency of exons 6 mutations responsible for G6PD deficiency (Mediterranean type) is reported for the first time from this region, with a figure of 50.1%. The absence of other mutations in exon 7 causing G6PD deficiency points to the low genetic diversity in the studied population.

FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group.

Genomic DNA from 106 cases of adult de novo acute myeloid leukaemia (AML) was screened by polymerase chain reaction (PCR) and gel electrophoresis for FLT3 internal tandem duplication (ITD) mutations within the juxtamembrane (JM) domain. FLT3 mutations were detected in 14 cases (13.2%) and occurred in FAB types M1 (4 out of 14 cases), M3 (1 out of 10 cases), M4 (5 out of 37 cases) and M5 (4 out of 11 cases). Sequence analysis of four cases with abnormal PCR electrophoretic patterns revealed in frame duplications in the region of exon 11 of between 27 and 111 base pairs. Three are predicted to result in the tandem duplication of adjacent amino acid residues and one to result in a tandem duplication plus insertion of a novel amino acid motif. Statistical analysis showed the FLT3 mutations to be a strong prognostic factor, with patients lacking the mutation surviving significantly longer from diagnosis (mean 29.1 months) than those with an ITD (mean 12.8 months; P = 0.0002). Thirteen of the 14 patients with FLT3 mutations died within 18 months of diagnosis. FLT3 mutations were of prognostic significance in good risk disease (P = 0.04), as well as in patients with standard risk disease (P = 0.0096). This study demonstrates that the FLT3 ITD mutation occurs in a significant percentage of adult AML cases and is an important adverse prognostic factor that appears independent of conventional karyotypic findings.

Genetic determinants of hemostasis phenotypes in Spanish families.

BACKGROUND: Recent studies have described genetic mutations that affect the risk of thrombosis as a result of abnormal levels of such hemostatic parameters as protein C, protein S, and the activated protein C resistance ratio. Although these mutations suggest that genes play a part in determining variability in some hemostasis-related phenotypes, the relative importance of genetic influences on these traits has not been evaluated. METHODS AND RESULTS: The relative contributions of genetic and environmental influences to a panel of hemostasis-related phenotypes were assessed in a sample of 397 individuals in 21 extended pedigrees. The effects of measured covariates (sex, age, smoking, and exogenous sex hormones), genes, and environmental variables shared by members of a household were quantified for 27 hemostasis-related measures. All of these phenotypes showed significant genetic contributions, with the majority of heritabilities ranging between 22% and 55% of the residual phenotypic variance after correction for covariate effects. Activated protein C resistance ratio, activated partial thromboplastin time, and Factor XII showed the strongest heritabilities, with 71.3%, 83.0%, and 67.3%, respectively, of the residual phenotypic variation attributable to genetic effects. CONCLUSIONS: These results clearly demonstrate the importance of genetic factors in determining variation in hemostasis-related phenotypes that are components of the coagulation and fibrinolysis pathways and that have been implicated in risk for thrombosis. The presence of such strong genetic effects suggests that it will be possible to localize previously unknown genes that influence quantitative variation in these hemostasis-related phenotypes that may contribute to risk for thrombosis.

c-kit proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia.

Genomic DNA from 60 cases of acute myeloid leukaemia (AML) was screened for mutations in the c-kit gene. DNA from all 21 exons was subjected to polymerase chain reaction (PCR) amplification and analysis by conformation sensitive gel electrophoresis (CSGE); exons showing altered CSGE patterns were then sequenced. Mutations were identified only in those patients with inv(16) (3/7 cases) or t(8;21) (1/2 cases) and comprised three in-frame deletion plus insertion mutations (exon 8) and one point mutation (exon 10, GTA --> ATA, Val530Ile). Exons 8 and 10 were then analysed in 31 further cases of inv(16) (n = 14) and t(8;21) (n = 17), revealing four additional exon 8 in-frame deletion plus insertion mutations, all of which were in cases of inv(16). All exon 8 in-frame deletion plus insertion mutations (n = 7) involved the loss or replacement of the codon for Asp419 which is highly conserved cross species and is located in the receptor's extracellular domain. The high frequency of the c-kit proto-oncogene exon 8 deletion plus insertion mutations in AML suggests an essential role for this region of the receptor's extracellular domain. The association with inv(16) invites speculation as to the link between these two changes in the pathogenesis of AML.

Analysis of delays in elective operating lists.

Full text is available as a scanned copy of the original print version.