Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients

Background: Achondroplasia is the most common form of non lethal skeletal dysplasia. It is a fully penetrant autosomal dominant disorder and the majority of cases are sporadic resulting from de novo mutations associated with advanced paternal age. The phenotype of achondroplasia is related to disturbance in endochondral bone formation due to mutations in the fi broblast growth factor receptor-3 (FGFR3) gene. Aim of the Work: Evaluation of the cardinal phenotypic features in achondroplasia, the body physique using anthropometric measurements, the characteristic radiological signs in the patients as a main tool for diagnosis and detection of the most common mutations in achondroplasia patients in the studied sample.Subjects and Methods: From 42 cases referred to us as achondroplasia, we selected 20 cases where clinical manifestations were consistent with achondroplasia. Cases were subjected to full clinical examination, detailed anthropometric measurements, whole body skeletal survey and molecular studies of the most common mutations of the FGFR3 gene using PCR amplifi cation technique. Results: Nineteen cases were sporadic (95%) and one case had an affected father (5%). A paternal age above 35 years at the time of child’s birth was present in 7 cases (35%). Paternal exposure to occupational heat was noted in 6 cases (30%) and parental exposure to chemicals in 3 cases (15%). All cases showed typical clinical and radiological manifestations of achondroplasia. Anthropometricmeasurements quantitatively confi rmed the body physique in thestudied cases. G380R common mutations of the FGFR3 gene were detected in 15/18 cases (83%) with the G to A transition at nucleotide 1138 in 14 cases (77%). Agenesis of corpus callosum, not previously reported in association with achondroplasia, was present in the only case with the G-C transversio nmutation at nucleotide 1138 (5%).Conclusions: Awareness of the cardinal features of achondroplasia, properanthropometric measurements and detailed skeletal survey are the key foraccurate diagnosis, genetic counseling and avoidance of over diagnosis. The majority of studied Egyptian achondroplasia patients have the same common mutation that has been most often defi ned in patients with achondroplasia from other countries.Keywords: Achondroplasia, fi broblast growth factor receptor3,skeletal dysplasia, paternal heat exposure

Complete Genome Sequence of the Complex Carbohydrate-Degrading Marine Bacterium, Saccharophagus degradans Strain 2-40T

The marine bacterium Saccharophagus degradans strain 2-40 (Sde 2-40) is emerging as a vanguard of a recently discovered group of marine and estuarine bacteria that recycles complex polysaccharides. We report its complete genome sequence, analysis of which identifies an unusually large number of enzymes that degrade >10 complex polysaccharides. Not only is this an extraordinary range of catabolic capability, many of the enzymes exhibit unusual architecture including novel combinations of catalytic and substrate-binding modules. We hypothesize that many of these features are adaptations that facilitate depolymerization of complex polysaccharides in the marine environment. This is the first sequenced genome of a marine bacterium that can degrade plant cell walls, an important component of the carbon cycle that is not well-characterized in the marine environment

Laparoscopy in management of appendicitis in high-, middle-, and low-income countries: a multicenter, prospective, cohort study.

BACKGROUND: Appendicitis is the most common abdominal surgical emergency worldwide. Differences between high- and low-income settings in the availability of laparoscopic appendectomy, alternative management choices, and outcomes are poorly described. The aim was to identify variation in surgical management and outcomes of appendicitis within low-, middle-, and high-Human Development Index (HDI) countries worldwide. METHODS: This is a multicenter, international prospective cohort study. Consecutive sampling of patients undergoing emergency appendectomy over 6 months was conducted. Follow-up lasted 30 days. RESULTS: 4546 patients from 52 countries underwent appendectomy (2499 high-, 1540 middle-, and 507 low-HDI groups). Surgical site infection (SSI) rates were higher in low-HDI (OR 2.57, 95% CI 1.33-4.99, p = 0.005) but not middle-HDI countries (OR 1.38, 95% CI 0.76-2.52, p = 0.291), compared with high-HDI countries after adjustment. A laparoscopic approach was common in high-HDI countries (1693/2499, 67.7%), but infrequent in low-HDI (41/507, 8.1%) and middle-HDI (132/1540, 8.6%) groups. After accounting for case-mix, laparoscopy was still associated with fewer overall complications (OR 0.55, 95% CI 0.42-0.71, p < 0.001) and SSIs (OR 0.22, 95% CI 0.14-0.33, p < 0.001). In propensity-score matched groups within low-/middle-HDI countries, laparoscopy was still associated with fewer overall complications (OR 0.23 95% CI 0.11-0.44) and SSI (OR 0.21 95% CI 0.09-0.45). CONCLUSION: A laparoscopic approach is associated with better outcomes and availability appears to differ by country HDI. Despite the profound clinical, operational, and financial barriers to its widespread introduction, laparoscopy could significantly improve outcomes for patients in low-resource environments. TRIAL REGISTRATION: NCT02179112

Pooled analysis of WHO Surgical Safety Checklist use and mortality after emergency laparotomy

Background The World Health Organization (WHO) Surgical Safety Checklist has fostered safe practice for 10 years, yet its place in emergency surgery has not been assessed on a global scale. The aim of this study was to evaluate reported checklist use in emergency settings and examine the relationship with perioperative mortality in patients who had emergency laparotomy. Methods In two multinational cohort studies, adults undergoing emergency laparotomy were compared with those having elective gastrointestinal surgery. Relationships between reported checklist use and mortality were determined using multivariable logistic regression and bootstrapped simulation. Results Of 12 296 patients included from 76 countries, 4843 underwent emergency laparotomy. After adjusting for patient and disease factors, checklist use before emergency laparotomy was more common in countries with a high Human Development Index (HDI) (2455 of 2741, 89.6 per cent) compared with that in countries with a middle (753 of 1242, 60.6 per cent; odds ratio (OR) 0.17, 95 per cent c.i. 0.14 to 0.21, P <0001) or low (363 of 860, 422 per cent; OR 008, 007 to 010, P <0.001) HDI. Checklist use was less common in elective surgery than for emergency laparotomy in high-HDI countries (risk difference -94 (95 per cent c.i. -11.9 to -6.9) per cent; P <0001), but the relationship was reversed in low-HDI countries (+121 (+7.0 to +173) per cent; P <0001). In multivariable models, checklist use was associated with a lower 30-day perioperative mortality (OR 0.60, 0.50 to 073; P <0.001). The greatest absolute benefit was seen for emergency surgery in low- and middle-HDI countries. Conclusion Checklist use in emergency laparotomy was associated with a significantly lower perioperative mortality rate. Checklist use in low-HDI countries was half that in high-HDI countries.Peer reviewe

Global variation in anastomosis and end colostomy formation following left-sided colorectal resection

Background End colostomy rates following colorectal resection vary across institutions in high-income settings, being influenced by patient, disease, surgeon and system factors. This study aimed to assess global variation in end colostomy rates after left-sided colorectal resection. Methods This study comprised an analysis of GlobalSurg-1 and -2 international, prospective, observational cohort studies (2014, 2016), including consecutive adult patients undergoing elective or emergency left-sided colorectal resection within discrete 2-week windows. Countries were grouped into high-, middle- and low-income tertiles according to the United Nations Human Development Index (HDI). Factors associated with colostomy formation versus primary anastomosis were explored using a multilevel, multivariable logistic regression model. Results In total, 1635 patients from 242 hospitals in 57 countries undergoing left-sided colorectal resection were included: 113 (6·9 per cent) from low-HDI, 254 (15·5 per cent) from middle-HDI and 1268 (77·6 per cent) from high-HDI countries. There was a higher proportion of patients with perforated disease (57·5, 40·9 and 35·4 per cent; P < 0·001) and subsequent use of end colostomy (52·2, 24·8 and 18·9 per cent; P < 0·001) in low- compared with middle- and high-HDI settings. The association with colostomy use in low-HDI settings persisted (odds ratio (OR) 3·20, 95 per cent c.i. 1·35 to 7·57; P = 0·008) after risk adjustment for malignant disease (OR 2·34, 1·65 to 3·32; P < 0·001), emergency surgery (OR 4·08, 2·73 to 6·10; P < 0·001), time to operation at least 48 h (OR 1·99, 1·28 to 3·09; P = 0·002) and disease perforation (OR 4·00, 2·81 to 5·69; P < 0·001). Conclusion Global differences existed in the proportion of patients receiving end stomas after left-sided colorectal resection based on income, which went beyond case mix alone

Brain Imaging and Urodynamic Correlation in Patients with Cerebrovascular Stroke

Objective: To identify urodynamic abnormalities in patients with cerebrovascular accidents and correlate both with CT or MRI findings. Patients and Methods: From September 2001 to March 2003, a total of 44 males and 16 females were prospectively examined urodynamically in different phases after cerebrovascular accidents, and as early as two days after stroke. Results: In most cases, the urodynamic findings could be correlated with CT or MRI findings. The most determining factor was the site of the lesion followed by the size. Small lesions were frequently silent unless located in critical sites. It was found that frontal, frontoparietal, parietal, basal ganglia and internal capsular ischemic lesions were associated in most cases with detrusor hyperreflexia, whereas thalamic, pontine and cerebellar infarcts were linked to detrusor hyporeflexia. Multiple lesions within the same group produced the same effect, while mixed lesions produced variable ef-fects. There was no effect of laterality or dominance and an initial shock phase could not be identified. Detrusor-sphincter-dys-synergia (DSD) and hence upper tract deterioration were not observed. The effect of stroke was also modified by already present or predominant conditions such as BPH. Conclusion: Correlating urodynamic and CT findings is very difficult in stroke patients because of the diffuse nature of the lesions, the unknown function of many brain centers in micturition control, the innumerable connections between the different brain regions and the extremely complicated influences that the brain regions exert upon each other and upon the bladder. The optimal understanding of the problem is dependent upon the better understanding of the function of each part of the brain. Further studies in this direction are recommended. Corrélations entre l'imagerie cérébrale et l'urodynamique chez les patients présentant un accident vasculaire cérébral Objectifs: Identifier les anomalies urodynamiques chez les patients présentant un accident vasculaire cérébral (AVC) et leur corrélation avec les résultats de la TDM et de l'IRM. Patients et Méthodes: De septembre 2001 à mars 2003, une étude prospective de 44 hommes et 16 femmes a été réalisée. Une étude urodynamique pendant les différentes phases après accident vasculaire cérébral a été indiquée chez tous les patients et ce dès les deux premiers jours de la phase aigue. Résultats: Dans la plupart des cas, les conclusions de l\'urodynamique pourraient être corrélées aux résultats de la TDM et de l'IRM. Le facteur déterminant était la topographie de la lésion et sa dimension. Les petites lésions étaient fréquemment silencieuses à moins qu'elle soit de topographie critique. Les lésions des lobes frontal, frontopariétal, pariétal, du ganglion basal et les lésions ischémiques capsulaires internes ont été associées dans la plupart des cas à une hyperreflexie du detrusor, alors que les infarctus thalamiques, pontiques et cérébelleux ont été liés à une hyporeflexie du detrusor. Les multiples lésions dans le même groupe ont produit le même effet, tandis que les lésions associées ont produit des effets variables. Il n'y avait aucun effet de latéralité ou de dominance et une phase de choc initiale ne pourrait être identifiée. La dyssynergie vésico-sphincterienne (DSD) et de là la détérioration du haut appareil n\'a pas été observée. L\'effet de l'AVC a aussi été modifié par les conditions déjà présentes ou prédominantes tel que la HBP. Conclusions: Corréler les résultats de l'urodynamique aux conclusions de la TDM est très difficile chez les patients présentant un AVC à cause de la nature diffuse des lésions, le rôle encore inconnue de beaucoup de centres cérébraux dans le contrôle de la miction, les rapports innombrables entre les différentes zones du cerveau et les influences extrêmement compliquées que les zones du cerveau exercent sur la vessie. La compréhension optimale du problème est dépendante d'une meilleure approche de la fonction de chaque partie du cerveau. Les études supplémentaires dans cette direction sont recommandées. African Journal of Urology Vol.10(4) 2004: 269-27