Prehabilitation bundle can reduce incidence of postoperative pulmonary complications.

INTRODUCTION: Elective major colorectal surgery is still associated with postoperative morbidity and mortality. Preoperative optimization can potentially reduce postoperative pulmonary complications, which significantly prolong recovery and increase the risk of mortality. The aim of this study was to evaluate the effect of the prehabilitation bundle on postoperative pulmonary complications. METHODS: All patients undergoing elective colorectal procedure for benign or malignant diagnosis before and after the introduction of the prehabilitation bundle were enrolled in the study. Prehabilitation was focused on nutritional support, regular aerobic and muscle strength exercise, preoperative optimization of anaemia, improvement of oral hygiene including regular chlorhexidine mouth wash, psychological support, restriction of smoking and alcohol consumption. In addition to the general characteristics, compliance with individual measures, incidence of pulmonary complications and length of stay were monitored. RESULTS: A total of 596 patients were included in the study (226 before and 370 after the implementation of the package). After the introduction of prehabilitation, the incidence of postoperative pulmonary complications decreased significantly - 29 (13%) vs. 17 (4.6%), RR: 0.21-0.67), p=0.001 and shorter length of stay was observed à 9.7 (±8.8) to 7.7 (±5.5) days (p=0.0005). Except for optimization of anaemia, compliance with the individual components of the established bundle was very good. CONCLUSION: Introduction of a prehabilitation bundle focused on improvement of cardiorespiratory capacity, optimization of diet and oral hygiene, can reduce the risk of postoperative pulmonary complications and shorten the length of stay.

Total and unicondylar knee arthroplasty are equivalent treatment options in end-stage spontaneous osteonecrosis of the knee, and the size of the lesion has no influence on the results.

PURPOSE: The purpose of the present study was to compare total (TKA) and unicondylar (UKA) knee arthroplasty for spontaneous osteonecrosis of the knee (SONK), and to investigate potential correlations to radiographic parameters. METHODS: All consecutive patients with a magnetic resonance imaging (MRI) proven SONK treated with either TKA or UKA between 2002 and 2018 were analysed. The primary outcomes were postoperative complications and failure rates. Functional assessment included Knee Society Score (KSS), WOMAC Score, and range of motion. A novel three-dimensional measurement method was established to determine the size of the osteonecrotic lesion. All outcome parameters were correlated to the size of the necrotic lesion using Spearman's rank correlation. RESULTS: The two treatment groups (34 TKAs, 37 UKAs) did not differ regarding age, body mass index, and ratio of the volume of the necrotic lesion to the volume of the femoral condyle (n.s.). At a mean follow-up of 6.6 years, patients with UKA had better functional outcomes compared to patients with a TKA (WOMAC Score 1.0 vs. 1.6, p = 0.04; KSS pain 86 vs. 83, n.s), with a similar complication rate. No correlation was found between necrotic lesion size and failure rate (n.s.). CONCLUSION: UKA is a valuable treatment option for SONK leading to good functional results and a low failure rate. In case of a surgeon's concern regarding implant anchorage, TKA represents an equivalent solution. The MR-tomographic size of the osteonecrotic lesions seems to have no influence on the results. LEVEL OF EVIDENCE: III.

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.

BACKGROUND: Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Duplication of 4q is presented with minor to severe ID, MIC and facial dysmorphism. We aimed to verify the correlation between genotype/phenotype in a patient with 1q43q44 deletion associated with 4q32.1q35.2 duplication. CASE PRESENTATION: We report on a 3 year-old female patient with delayed motor and mental milestones, MIC and facial dysmorphism. She is a child of non-consanguineous parents and no similarly affected family members. CT brain showed abnormal gyral patterns, hypogenesis of corpus callosum and bilateral deep Sylvian fissure. Electroencephalogram showed frontotemporal epileptogenic focus. Her karyotype was revealed as 46,XX,add(1)(q44). Fluorescence in situ hybridization (FISH) using whole chromosome paint (WCP1) and subtelomere 1q revealed that the add segment was not derived from chromosome 1 and there was the deletion of subtelomere 1q. Multiple ligation probe amplification (MLPA) subtelomere kit revealed the deletion of 1q and duplication of 4q. Array CGH demonstrated the 6.5 Mb deletion of 1q and 31 Mb duplication of chromosome 4q. CONCLUSION: The phenotype of our patient mainly reflects the effects of haploinsufficiency of AKT3, HNRNPU, ZBTB18 genes associated with duplication of GLRA3, GMP6A, HAND2 genes. Patients presented with ID, seizures, MIC together with CCA are candidates for prediction of 1q43q44 microdeletion and cytogenomic analysis.

[Infected osteosynthesis]. / Infizierte Osteosynthese.

BACKGROUND: Infections after osteosynthesis are a feared complication of the surgical treatment of fractures and should be dealt with by a multidisciplinary team. In addition to the surgeon, also included in this multidisciplinary team are a specialist for infectious diseases, a microbiologist, a radiologist and often a plastic surgeon. This review article describes the current knowledge on the pathogenesis, diagnostics, classification and treatment. The aim is to demonstrate some basic rules in the treatment of infections associated with implants and to show potential therpeutic approaches. MATERIAL AND METHODS: The principles of diagnostics and combined surgical and antibiotic treatment are presented based on the current specialist literature. RESULTS: With the help of a team approach the goals of treatment of an infected osteosynthesis, i.e. fracture healing, return to function and eradication of infection can be achieved. While the osteosynthesis material can usually be retained in acute infections, it is better to remove the infected hardware in chronic infections as eradication of the mature biofilm is no longer possible. DISCUSSION: With adequate local wound débridement, the use of local and systemic antibiotics, as indicated by the specialist for infectious diseases and appropriate soft tissue coverage and wound closure, acute as well as chronic infections can be successfully treated. Nowadays, the surgeon has many different options for the management of bone defects. Depending on the anatomical location and the size of the defect a variety of techniques ranging from acute shortening to the Masquelet technique up to the Ilizarov distraction technique are available. These techniques should be combined with local bactericidal treatment.

ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.

The Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by mutation in ESCO2 gene. Among over 150 reported international cases, 16 cases are Egyptian including the presently reported patients. The current study reports 8 new Egyptian patients from 7 unrelated consanguineous families investigating clinical phenotype as well as cytogenetic changes in all cases and mutational spectrum in 4 cases. Clinical, orodental, cytogenetic and molecular studies were done to investigate genotype/phenotype correlation. Evaluation of the studied 8 patients showed that they all exhibited the main limb and craniofacial features of Roberts syndrome. Cytogenetic studies including centromeric separation and puffing by Giemsa and DAPI stains and for the first time in Egypt analysis for premature centromeric division by FISH showed consistent centromeric separation in all studied cases. Molecular studies of 4 available patients showed that they all have ESCO2 gene mutation. We conclude that RBS has a well-defined clinical spectrum. The cytogenetic changes are due to sister chromatid cohesion defects which lead to mitotic dysfunction. We confirmed previous results of lack of genotype/phenotype correlation. We also confirmed that the severity of limb malformation correlates with craniofacial manifestations. We recommend detailed evaluation of orodental changes for further definition of the phenotype and for proper patient management. We emphasize the need for further studies for the frequency of premature centromeric separation by FISH as a possible indicator of phenotypic severity.

Improved positioning of the tibial component in unicompartmental knee arthroplasty with patient-specific cutting blocks.

PURPOSE: Unicompartmental knee arthroplasty (UKA) has recently regained popularity for the treatment of osteoarthritis of the knee. Numerous authors have cited alignment as an important prognostic factor in the survival of UKA. Limb alignment affects not only the longevity of UKA by influencing wear of polyethylene, but also affects the unreplaced contralateral compartment. Malpositioning of the components may result in unequal wear patterns, thus further leading to early failure and additionally influencing clinical outcome as well. However, there is a lack of techniques to assure a high accuracy of the implant positioning. METHODS: In this study, we investigated tibia component alignment of 28 medial UKAs implanted with patient-specific cutting blocks. Three patients were excluded due to bad imaging. Measurements of tibial component alignment from postoperatively computed tomography (CT) scans were compared to respective CT-based preoperative plannings to assess the accuracy of implant positioning. RESULTS: Our results show excellent high accuracy of tibial implant position in tibial varus/valgus (Δ 0.3° ± 1.7°), posterior slope (Δ 1.1° ± 2.6°) and external rotation (Δ 1.5° ± 3.3°). CONCLUSION: We conclude that patient-specific cutting blocks improve the accuracy of tibia component positioning in unicompartmental knee arthroplasty. LEVEL OF EVIDENCE: Case series with no comparison group, Level IV.

Defect reconstruction over the olecranon with the distally extended lateral arm flap.

Defect reconstruction over the olecranon should be reliable, quick, relatively simple and with minimal complications. More recently, perforator flaps have been described with the benefit of minimal donor site morbidity when compared with muscle flaps or flaps relying on the major arteries of the upper extremity. So far, most of these flaps were harvested on the upper arm and rotated 180° into the defect. The aim of the present study was to analyse the results with the proximally based, distally extended lateral arm flap for soft-tissue reconstruction over the olecranon. The subcutaneous tissue layer in this area is thinner than in the upper arm, and less rotation of the pedicle is necessary. The location of the perforator just proximal to the lateral epicondyle and the precise territory of the flap are well known. Nine consecutive male patients with a mean age of 57±27 years presenting with soft-tissue defects after surgical treatment of bursitis (eight cases) or a pressure sore (one case) were operated on. The mean operation time was 60±15 min. In eight of the nine cases, the flap healed uneventfully or with a minor complication (fistula). One patient underwent revision surgery due to marginal flap necrosis. The defect was closed with a local advancement flap. In conclusion, the flap was reliable, relatively simple and quick to harvest, and yielded acceptable aesthetic results with minimal bulging over the olecranon. Postoperative recovery was relatively painless and short.

GH administration rescues fatty liver regeneration impairment by restoring GH/EGFR pathway deficiency.

GH pathway has been shown to play a major role in liver regeneration through the control of epidermal growth factor receptor (EGFR) activation. This pathway is down-regulated in nonalcoholic fatty liver disease. Because regeneration is known to be impaired in fatty livers, we wondered whether a deregulation of the GH/EGFR pathway could explain this deficiency. Hepatic EGFR expression and triglyceride levels were quantified in liver biopsies of 32 obese patients with different degrees of steatosis. We showed a significant inverse correlation between liver EGFR expression and the level of hepatic steatosis. GH/EGFR down-regulation was also demonstrated in 2 steatosis mouse models, a genetic (ob/ob) and a methionine and choline-deficient diet mouse model, in correlation with liver regeneration defect. ob/ob mice exhibited a more severe liver regeneration defect after partial hepatectomy (PH) than methionine and choline-deficient diet-fed mice, a difference that could be explained by a decrease in signal transducer and activator of transcription 3 phosphorylation 32 hours after PH. Having checked that GH deficiency accounted for the GH signaling pathway down-regulation in the liver of ob/ob mice, we showed that GH administration in these mice led to a partial rescue in hepatocyte proliferation after PH associated with a concomitant restoration of liver EGFR expression and signal transducer and activator of trnascription 3 activation. In conclusion, we propose that the GH/EGFR pathway down-regulation is a general mechanism responsible for liver regeneration deficiency associated with steatosis, which could be partially rescued by GH administration.

Clinical significance of telomerase genes (hTERC and hTERT) amplification in patients with acute myeloid leukemia.

UNLABELLED: Acute myeloid leukemia (AML) describes a heterogenous group of hematological disorders. Cytogenetic and molecular assays have allowed patients' follow up aiming for detection of minimal residual disease, prediction of patients' outcome, in addition to providing the rationale for designing novel molecular-targeted therapeutic strategies. Human telomerase reverse transcriptase (hTERT), encoded by the hTERT gene and the telomerase RNA component (hTERC) genes are frequently amplified in human tumors, which may indicate that the hTERT and the hTERC genes may be target for amplification during the transformation of human malignancies including hematological malignancies. This genetic event has implications in diagnosis, prognosis and therapeutics of cancer. To evaluate the hTERC and hTERT genes as a prognostic marker in patients with AML, hTERC and hTERT gene amplification was studied in 20 adult AML patients using a commercial FISH probes (Kreatech) designated to detect the copy numbers of the genes. They were 12 males and 8 females. Their ages ranged from 16 to 67 years. The patients were further divided into two groups; group I (12 patients) includes newly diagnosed AML patients and group II (8 patients) includes patients taken at 28th day of chemotherapy. The hTERC amplification was detected in 19/21 cases (90.5%). The copy number of the gene ranged from 2-5 copies per interphase cell. For the hTERT gene, the amplification was found in the same percent of the patients. The copy number of the gene ranged from 2-9 copies per interphase cell. On comparing the group I with group II there was a highly statistical significant difference regarding the percent of amplification of both genes. The percent of amplification of hTERT gene was found to be higher among patients with poor outcome of the disease than in patients with good outcome. On the contrary the hTERC gene amplification did not exhibit such a correlation. In conclusion, hTERT and hTERC genes amplification were detected in patients with AML; therefore telomerase can be a good cancer marker which may be involved in carcinogenesis of leukemia. Higher amplification was found in de novo cases than cases in remission which emphasize its role in clinical analysis, disease monitoring and detection of minimal residual disease. KEYWORDS: Acute Myeloid leukemia, telomerase amplification, hTERC gene, hTERT gene.

Laparoscopic treatment of incisional hernia. State of the art in 2012.

OBJECTIVE: The objective of this review is to evaluate the results of laparoscopic treatment of ventral hernias using intra-peritoneal prosthetic mesh through a review of published surgical series. METHODS: All large series of patients treated for an incisional hernia by laparoscopy and published between 2002 and 2011 were identified. The results of controlled randomized series comparing this technique with open surgical repair were analyzed. RESULTS: Twenty-two series with a total of 7057 patients were analyzed (range 51-1242); the mean Body Mass Index (BMI) was 32 (range: 28.5-46), and the mean size of the hernia defect was 10.6 cm (range: 6-14.9 cm). The mean rate of conversion to open surgical repair was 2.7%. Mean operative duration was 90 ± 33 minutes. Mortality was 0.8%, usually due to an unrecognized intestinal injury (1.6%), which occurred more frequently with second or iterative hernia repairs. Hospital stay averaged 2.5 days. The infection rate was 0.3% and the rate of hernia recurrence was 4.6% (with a mean follow-up of 36 months). No statistically significant differences were found in terms of post-operative complications or hernia recurrence in the randomized studies comparing laparoscopic to open anterior abdominal surgical repair. However, duration of hospital stay was shorter after laparoscopy in some studies. CONCLUSION: Laparoscopic repair of ventral incisional hernia is technically feasible and reliable for large hernia defects, even in obese patients. This approach should be reserved for patients with no history of previous hernia repair in order to avoid the risk of intestinal injury. It appears to allow for a shortened duration of hospitalization.

Role of ginger against the reproductive toxicity of aluminium chloride in albino male rats.

The aim of the current study was to evaluate reproductive disorders concomitant with aluminium chloride (AlCl(3) ) toxicity in Albino male rats. Attention was also directed to study the protective influence of ginger against this toxicity. Forty-five mature Albino Wistar male rats were equally divided into three groups; the first group was served as control group while those of the second group (AlCl(3) ) were daily treated with 34 mg/kg bw. AlCl(3) orally. The third group (AlCl(3) + ginger) was treated daily with AlCl(3) as in group 2 in combination with ginger (40 mg/kg bw), which started 2 weeks prior to AlCl(3) . Five animals from each group were sacrificed on days 30, 45 and 60 of treatment. AlCl(3) administration significantly decreased serum testosterone levels, increased testicular homogenate malondialdehyde and deteriorated semen picture with increased testicular DNA fragmentation. Histopathological examination revealed degenerative changes of the seminiferous tubules with focal areas of necrosed spermatogenic cells, marked degeneration and desquamation of the lining epithelial cells of epididymis as well as multiple calcified material in prostate gland following 60 days of aluminium treatment. Ginger treatment started to improve significantly all studied parameters after 60 days as compared with AlCl(3) -treated group. In the current study, it was concluded that AlCl(3) had a destructive effect on all the studied reproductive parameters. Treatment with ginger has an ameliorating effect against AlCl(3) toxicity after 60 days post-treatment.

Laparoscopic versus open gastrectomy for adenocarcinoma: a prospective comparative analysis.

AIM: Laparoscopic gastrectomy (LG) is still not a widely accepted option for the treatment of invasive gastric cancer. This study was conducted to evaluate the results of LG for gastric adenocarcinoma in two French surgical departments. METHODS: Between 2001 and 2007, 51 patients underwent LG for gastric cancer. The results were compared to those of 79 patients who had open gastrectomy (OG) during the same study period. RESULTS: Mean age was 61 years (31-81) and 66 years (27-88) in the LG group and in the OG group, respectively. The sex ratio was 21 women to 30 men and 25 women for 54 men in the LG group and the OG group, respectively. The mean operative duration was 260 minutes (90-420) and 200 (120-360) the LG group and the OG group, respectively (P=0.11). Estimated operative blood loss was 150 ml (50-870) and 240 (120-955) in the LG group and the OG group, respectively (P=0.07). The mean number of harvested lymph nodes was 19 (8-51) in the LG group and 22 (3-101) in the OG group, respectively (P=0.76). The overall mortality rate was 0% and 2.5% in the LG group and the OG group, respectively (P=0.49). The overall abdominal morbidity rate was 12% and 16.4% in the LG group and the OG group, respectively (P=0.42). The mean duration of hospital stay was 8.0 days (5-23) and 11.5 days (5-31) in the LG group and the OG group, respectively (P=0.023). Survival analysis at 1, 2, and 3 years showed no significant difference between the two groups. CONCLUSION: LG for cancer is feasible and safe in patients with invasive gastric cancer. However, randomized controlled trials are necessary to accurately define the role of laparoscopy in the treatment of gastric cancer.

Finding and defining the ideal patellar resection plane in total knee arthroplasty.

Asymmetric resection of the patella during total knee arthroplasty (TKA) correlates with anterior knee pain, bony impingement and patellar maltracking. Despite this, there is no consensus regarding the desired landmarks; the cut is often done freehand; and there has been no quantitative comparison of proposed resection planes. The objectives of this study were to: determine the intra- and inter-surgeon repeatability of two radiographic resection definitions (medial-divot, MD, and medial-lateral extents, MLE); calculate two additional definitions from the radiographic patellar circumferences (parallel to the anterior surface, ANT, and perpendicular to the anteroposterior tangent points, PERP); compare the clinical resection line to the previous four definitions before and after introducing the MD method clinically; and identify distinguishing features of patellae with better vs. worse resection angles. We hypothesized that the MD method would improve repeatability both radiographically and clinically, that the different radiographic definitions would produce comparable angles, and that we could identify distinguishing features. For the radiographic study, three surgeons drew lines on 40 preoperative X-rays plus 9 interspersed repetitions of 3 of these X-rays. For the clinical study, we compared the patellar resection angle for 20 patients immediately before and after implementing the new method. Given that the clinical goal is to have equal distances from the resection surface to the anterior surface, we compared all results to the ANT definition as the theoretically ideal definition. Confirming the first hypothesis, intra-surgeon repeatability (10 repetitions of 3 X-rays) and inter-surgeon repeatability (3 surgeons x 40 X-rays) were both significantly better using the new MD method compared to the MLE method (p<0.001). Contrary to the second hypothesis, clinical use of the MD method did not improve resection symmetry. Contrary to the third hypothesis, the PERP definition was significantly different from the other three definitions. In agreement with the fourth hypothesis, female patellae and more deformed patella had significantly greater asymmetry (p<0.001). Given the inherent variability shown in drawing the 'patellar horizon', we encourage researchers to draw the line several times and average the results when comparing tilt or the resection angle to this horizon. Based on the distinguishing characteristics of asymmetrically resurfaced patellae in our series, we recommend that clinicians be particularly careful when resecting laterally deformed patellae and the patellae of female patients.

Elective versus urgent laparoscopic appendectomy for complicated appendicitis.

AIM: Urgent appendectomy in patients with acute appendicitis (AA) complicated by abscess or phlegmon is associated with a high rate of complications. Recent developments in CT scanning have allowed patients with complicated appendicitis to be better identified. We choose to treat these patients with initial antibiotic therapy followed by elective appendectomy. We reported the results of this strategy and compared it with urgent appendectomy. METHODS: A retrospective analysis of patients diagnosed with complicated acute appendicitis (CAA) between 1998 and 2007 treated either by urgent appendectomy or with antibiotic therapy and elective appendectomy was performed. We assessed the efficacy of antibiotic therapy for CAA. We compared the postoperative course between urgent and elective appendectomy. RESULTS: We treated 56 patients with CAA: 40 by urgent appendectomy and 16 by antibiotics. All 16 patients improved with no need for urgent surgery, with 15 undergoing elective appendectomy. Postoperative complications were significantly lower in the elective group. Conversion rate and mean operative time were also lower but not significantly different. However, the duration of total hospital stay, antibiotic therapy and sick leave were higher. CONCLUSIONS: Initial antibiotic therapy followed by elective appendectomy may be proposed in patients diagnosed with CAA.

Partial trisomy of the distal part of 10q: a report of two Egyptian cases.

Partial trisomy of the distal third of the long arm of chromosome 10 is a well defined but rare syndrome. Most cases result from an unbalanced translocation. Growth retardation, developmental delay and characteristic dysmorphic features are well described in the syndrome. This report includes 2 Egyptian cases with partial 10q trisomy involving different breakpoints. Cases were subjected to full clinical examination and detailed cytogenetic analysis using conventional and FISH studies. Results showed that the karyotype of case 1 was 46,XX,der(7)t(7;10)(p22;q23).ish(wcp7+;wcpl0+) and the karyotype of case 2 was 46,XX,der(7)t(7;10)(p22;q25).ish(wcp7+;wcp 10+). The chromosomal abnormalities in case 1 resulted from a paternal balanced translocation while case 2 resulted from a maternal balanced translocation involving chromosomes 10 and 7 in both cases. The probands' phenotypes were correlated to the breakpoints and compared to previously reported cases with partial trisomy 10q. Both cases had the well characterized phenotype of the distal trisomy of 10q in the form of mental retardation, microcephaly, characteristic dysmorphic facies and limb anomalies as trisomy in both cases involved the 10q25-->qter region. However, case 1 with 10q23-->qter duplication showed more severe clinical manifestations than case 2 with less extensive 10q25-->qter trisomy. These included severe failure to thrive, cardiac involvement and death from respiratory and heart failure. This study confirmed that unbalanced chromosome regions of the long arm of chromosome 10 play an important role in developmental malformations and that a more severe form is associated with involvement of 10q23. It also emphasizes the importance of increasing public awareness regarding these chromosomal rearrangements and the importance of genetic counseling and prenatal diagnosis to avoid recurrences and associated family stress. This was clearly demonstrated in the second family in this study as the couple refused any follow up or further investigations due to religious beliefs despite their social and educational level.

Comparative repeatability of guide-pin axis positioning in computer-assisted and manual femoral head resurfacing arthroplasty.

The orientation of the femoral component in hip resurfacing arthroplasty affects the likelihood of loosening and fracture. Computer-assisted surgery has been shown to improve significantly the surgeon's ability to achieve a desired position and orientation; nevertheless, both bias and variability in positioning remain and can potentially be improved. The authors recently developed a computer-assisted surgical (CAS) technique to guide the placement of the pin used in femoral head resurfacing arthroplasty and showed that it produced significantly less variation than a typical manual technique in varus/valgus placement relative to a preoperatively determined surgical plan while taking a comparable amount of time. In the present study, the repeatability of both the CAS and manual techniques is evaluated in order to estimate the relative contributions to overall variability of surgical technique (CAS versus manual), surgeon experience (novice versus experienced), and other sources of variability (e.g. across specimens and across surgeons). This will enable further improvements in the accuracy of CAS techniques. Three residents/fellows new to femoral head resurfacing and three experienced hip arthroplasty surgeons performed 20-30 repetitions of each of the CAS and manual techniques on at least one of four cadaveric femur specimens. The CAS system had markedly better repeatability (1.2 degrees) in varus/valgus placement relative to the manual technique (2.8 degrees), slightly worse repeatability in version (4.4 degrees versus 3.2 degrees), markedly better repeatability in mid-neck placement (0.7 mm versus 2.5 mm), no significant dependence on surgeon skill level (in contrast to the manual technique), and took significantly less time (50 s versus 123 s). Proposed improvements to the version measurement process showed potential for reducing the standard deviation by almost two thirds. This study supports the use of CAS for femoral head resurfacing as it is quicker than the manual technique, independent of surgeon experience, and demonstrates improved repeatability.

Phenotypic and cytogenetic spectrum of 9p trisomy.

Trisomy 9p is one of the most frequent autosomal anomalies compatible with long survival rate. The spectrum of clinical severity in trisomy 9 roughly correlates with the extent of trisomic chromosome material. Trisomy 9p is a clinically well delineated syndrome and of all stigmata craniofacial dysmorphism is most specific. In this study we report five cases with de novo trisomy 9p. The study aimed at the identification of the genotype/phenotype correlations in patients with different breakpoints. GTG banding, DAPI stain, whole chromosome paint, centromere, telomere and 9p21 specific locus probes demonstrated that partial trisomy 9p in case 1 was due to isochromosome 9p with translocation of the long arm of re-arranged chromosome 9 onto the short arm of chromosome 13, cases 2 and 3 had intrachromosomal duplication of the short arm of chromosome 9 [dup(9)(p21p24)], case 4 had "classical" 9p trisomy and case 5 had duplication of whole short arm and part of the long arm of chromosome 9 (partial 9 trisomy). Although cases 1 to 4 had trisomy involving 9p, cases 1 and 2 exhibited the classical clinical manifestations of 9p trisomy, while cases 3 and 4 had additional features overlapping with Coffin-Siris syndrome. The present study strengthens the association of Coffin-Siris syndrome and 9p, the significance of such observations may point to possible gene location of Coffin-Siris syndrome on 9p. Case 5 had additional manifestations more than those typical of trisomy 9p which could be due to duplication of 9q21 region. Wide gap between 1st and 2nd toes, observed in the studied cases, can be added to the phenotype of this trisomy. Three of our cases had brain malformations, case 3 had dilated ventricles with hypogenesis of corpus callosum, case 4 had agenesis of corpus callosum, and case 5 had Dandy-Walker malformation. We also suggest that dosage effects of genes located in 9pter-q22 contribute to the etiology of Dandy-Walker syndrome. We recommend MRI studies as a routine in all cases with trisomy 9p.

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Roberts syndrome is a rare autosomal recessive genetic disorder (MIM 268300). It is characterized by pre and postnatal growth retardation, severe shortening of limbs with radial defects, oligodactyly and characteristic facial features. The present study reports 4 new cases of Roberts syndrome from 3 families presenting variable phenotypes. Patients were thoroughly investigated clinically and cytogenetically. By reviewing literature, we compared our cases to those previously reported. The rating severity system proposed by Van den Berg and Francke (30) was applied to correlate the phenotypic and cytogenetics changes. We observed more severe reduction defects in the upper limbs than in the lower limbs. While the main reduction defects in the upper limbs involved the thumb and radius ranging to phocomelia, absent or severely hypoplastic fibula was the main lower limb involvement. We emphasize this finding in the present investigation. Heterochromatin repulsion of chromosomes derived from Roberts syndrome patients is a characteristic cytogenetic abnormality. It was a constant finding in our studied patients demonstrated by DABI stain which supports the possibility that mutations in Roberts syndrome lie in centromere related proteins which may also play a role in body patterning. This was proved recently by Vega et al. (31). Application of the clinical rating score and its correlation with cytogenetic changes showed negative results. Cytogenetic studies in normal obligatory heterozygotes parents showed no changes. Phenotypic variability within the same family as well as between different families was observed. The ascertainment of 4 cases with Roberts syndrome from 3 Egyptian consanguineous families during one year in our department may indicate a high frequency of the Roberts syndrome allele among Egyptians. This confirms the need for molecular studies for early and accurate prenatal diagnosis to prevent such dramatic malformation syndrome.

[The role of transarterial embolisation in the treatment of patients with abdominal injuries]. / Transarterielle Embolisation. Stellenwert in der Behandlung von Patienten mit Abdominaltrauma.

INTRODUCTION: The role of transarterial embolisation in patients with abdominal injuries is controversial. Some trauma centres advocate routine angiography, whereas others believe in restricted indications such as increasing haematomas or persistent/recurrent haematuria. METHOD: We prospectively studied 167 patients with blunt and penetrating abdominal trauma. We used restricted indications for angiography and embolisation. RESULTS: Eleven of 167 patients with abdominal trauma (7%) were treated with angiography and embolisation., Overall, three of 11 patients (27%) with angiography and embolisation were treated emergently and eight of them (73%) at an average of 7.3 days. There were no complications due to the embolisation procedure, and all bleeding could be stopped. CONCLUSION: Transarterial angiography and embolisation is an important and safe tool in the treatment of acute abdominal injury when used for restricted indications. We believe this should not be performed as a routine procedure, especially in unstable patients.