Global burden of 34 cancers among women in 2020 and projections to 2040: Population-based data from 185 countries/territories.

Globally women face inequality in cancer outcomes; for example, smaller improvements in life expectancy due to decreased cancer-related deaths than men (0.5 vs 0.8 years, 1981-2010). However, comprehensive global evidence on the burden of cancer among women (including by reproductive age spectrum) as well as disparities by region, remains limited. This study aimed to address these evidence gaps by considering 34 cancer types in 2020 and their projections for 2040. The cancer burden among women in 2020 was estimated using population-based data from 185 countries/territories sourced from GLOBOCAN. Mortality to Incidence Ratios (MIR), a proxy for survival, were estimated by dividing the age-standardised mortality rates by the age-standardised incidence rates. Demographic projections were performed to 2040. In 2020, there were an estimated 9.3 million cancer cases and 4.4 million cancer deaths globally. Projections showed an increase to 13.3 million (↑44%) and 7.1 million (↑60%) in 2040, respectively, with larger proportional increases in low- and middle-income countries. MIR among women was higher (poorer survival) in rare cancers and with increasing age. Countries with low Human Development Indexes (HDIs) had higher MIRs (69%) than countries with very high HDIs (30%). There was inequality in cancer incidence and mortality worldwide among women in 2020, which will further widen by 2040. Implementing cancer prevention efforts and providing basic cancer treatments by expanding universal health coverage through a human rights approach, expanding early screening opportunities and strengthening medical infrastructure are key to improving and ensuring equity in cancer control and outcomes.

Postoperative Lumbar Fusion Bone Morphogenic Protein-Related Epidural Cyst Formation.

Bone morphogenetic protein is broadly used in spinal surgery to enhance fusion rates. Several complications have been associated with the use of bone morphogenetic protein, including postoperative radiculitis and pronounced bone resorption/osteolysis. Bone morphogenetic protein-related epidural cyst formation may represent another complication that has not been described aside from limited case reports. In this case series, we retrospectively reviewed imaging and clinical findings of 16 patients with epidural cysts on postoperative MR imaging following lumbar fusion. In 8 patients, mass effect on the thecal sac or lumbar nerve roots was noted. Of these, 6 patients developed new postoperative lumbosacral radiculopathy. During the study period, most patients were managed conservatively, and 1 patient required revision surgery with cyst resection. Concurrent imaging findings included reactive endplate edema and vertebral bone resorption/osteolysis. Epidural cysts had characteristic findings on MR imaging in this case series and may represent an important postoperative complication in patients following bone morphogenetic protein-augmented lumbar fusion.

Estudio genómico de la Quinua (Chenopodium quinoa Willd): técnicas de secuenciación e identificación genómica. Una revision. / Genomic study of Quinoa (Chenopodium quinoa Willd): sequencing techniques and genomic identification. A review.

INTRODUCCIÓN. La quinua (Chenopodium quinoa Willd), es considerado uno de los alimentos más completos debido a su alto contenido en ácidos grasos, oligoelementos y proteínas ricas en aminoácidos esenciales; sin embargo, también posee metabolitos con propiedades anti nutricionales (saponinas) que deben ser eliminados antes de su consumo. Algunos estudios realizados en el genoma de la quinua, se han basado en la identificación de genes involucrados en la producción de saponinas para inhibir su expresión y evitar los tratamientos de pos cosecha (escarificado). OBJETIVO. Establecer, mediante revisión bibliográfica, las técnicas de biología molecular aplicadas a la expresión genómica de saponinas en quinua (Chenopodium quinoa Willd) MÉTODOS. La revisión bibliográfica, se realizó tomando en cuenta varias fuentes de información, entre ellas: tesis doctorales, artículos científicos, libros y algunas plataformas WEB (www.bbc.com, www.fao.org, www.sidalc.net y https://biología.laguía2000.com) con principal interés en: genoma de la quinua, técnicas de secuenciación, genes identificados y su posterior expresión génica. CONCLUSIONES. El descubrimiento del genoma completo de la quinua en el año 2017, aplicando la técnica SMTR u otras técnicas como la pirosecuenciación, fue el punto de partida para el estudio de genes que le proporciona su adaptabilidad a varias condiciones bióticas y abióticas. De esta manera, en relación a los factores abióticos, se documentó en dos oportunidades que la expresión génica de saponinas, estaba relacionada con genes del citocromo P450 y enzimas como las glucosil transferasas. Ahora bien, aunque los genes involucrados en la respuesta a los agentes bióticos aún no están identificados, este se mantiene como hipótesis relacionándose con el contenido de saponinas.

INTRODUCTION. Quinoa (Chenopodium quinoa Willd), is considered one of the most complete foods due to its high content of fatty acids, trace elements and proteins rich in essential amino acids; however, it also has metabolites with anti-nutritional properties (saponins) that must be eliminated before consumption. Some studies carried out on the quinoa genome have been based on the identification of genes involved in the production of saponins to inhibit their expression and avoid post-harvest treatments (scarification). OBJECTIVE. To establish, through bibliographic review, the molecular biology techniques applied to the genomic expression of saponins in quinoa (Chenopodium quinoa Willd). METHODS. The bibliographic review was carried out taking into account several sources of information, among them: doctoral theses, scientific articles, books and some WEB platforms (www.bbc.com, www.fao.org, www.sidalc.net and https://biología.laguía2000.com) with main interest in: quinoa genome, sequencing techniques, identified genes and their subsequent gene expression. CONCLUSIONS. The discovery of the complete genome of quinoa in 2017, applying the SMTR technique or other techniques such as pyrosequencing, was the starting point for the study of genes that provide its adaptability to various biotic and abiotic conditions. Thus, in relation to abiotic factors, it was reported on two occasions that the gene expression of saponins was related to cytochrome P450 genes and enzymes such as glucosyl transferases. Although the genes involved in the response to biotic agents have not yet been identified, this remains a hypothesis related to the content of saponins.

Thermodynamics study of biokerosene from coconut and palm kernel oils and JP-8 aircraft fuels in the gas phase by the DFT method.

In this work, we performed a theoretical density functional theory (DFT) and semi-empirical (PM3) analysis to calculate thermodynamic properties of biokerosene from coconut and palm kernel oils, Jet Propulsion Fuel 8 (JP-8), and mixtures of these fuels. All simulations were performed in thermal equilibrium and for a temperature range of 0.5-1500 K, considering the canonical ensemble model. We predicted the thermal properties energy, enthalpy, enthalpy change, Gibbs free energy, entropy, and specific heat at constant pressure with respect to temperature. In addition, we compared the performances of the DFT functional hybrid B3LYP and the basis set 6-311++G(d,p) and PM3 methods, in order to determine their accuracy for thermodynamic predictions relating to the fuels. Calculations for combustion enthalpy were carried out using the following methods: B3LYP/6-311++G(d,p), B3LYP/6-31+G(d), CBS-QB3, G3, G4, and G3/G4. The results showed good agreement with measured values, indicating that DFT may be a good method to calculate and predict thermodynamic properties of the combustion reactions of kerosene and biokerosene.

Thermodynamic DFT analysis of natural gas.

Density functional theory was performed for thermodynamic predictions on natural gas, whose B3LYP/6-311++G(d,p), B3LYP/6-31+G(d), CBS-QB3, G3, and G4 methods were applied. Additionally, we carried out thermodynamic predictions using G3/G4 averaged. The calculations were performed for each major component of seven kinds of natural gas and to their respective air + natural gas mixtures at a thermal equilibrium between room temperature and the initial temperature of a combustion chamber during the injection stage. The following thermodynamic properties were obtained: internal energy, enthalpy, Gibbs free energy and entropy, which enabled us to investigate the thermal resistance of fuels. Also, we estimated an important parameter, namely, the specific heat ratio of each natural gas; this allowed us to compare the results with the empirical functions of these parameters, where the B3LYP/6-311++G(d,p) and G3/G4 methods showed better agreements. In addition, relevant information on the thermal and mechanic resistance of natural gases were investigated, as well as the standard thermodynamic properties for the combustion of natural gas. Thus, we show that density functional theory can be useful for predicting the thermodynamic properties of natural gas, enabling the production of more efficient compositions for the investigated fuels. Graphical abstract Investigation of the thermodynamic properties of natural gas through the canonical ensemble model and the density functional theory.

Obstructive sleep apnoea in craniofacial microsomia: analysis of 755 patients.

A retrospective cohort study was set up to analyse the prevalence and treatment of obstructive sleep apnoea (OSA) in relation to the severity of the deformity in patients with craniofacial microsomia (CFM). This study included a population of 755 patients with CFM from three craniofacial centres. Medical charts were reviewed for severity of the deformity, types of breathing difficulty, age at which breathing difficulty first presented, treatment for OSA, and treatment outcome. In total, 133 patients (17.6%) were diagnosed with OSA. Patients with Pruzansky IIB/III classification or bilateral craniofacial microsomia were significantly more often diagnosed with OSA than unilaterally affected patients of Pruzansky I/IIA classification. The initial treatment of OSA consisted of adenotonsillectomy, tracheotomy, or non-invasive positive pressure ventilation. Thirty-seven patients received more than one treatment (range 1-3). In this study, the prevalence of OSA in patients with CFM was higher than the prevalence in the healthy population described in the literature. Although several treatment modalities are available for the treatment of OSA in patients with CFM, treatment should be individualized and based on clinical symptoms, the severity of the deformity, and comorbidities.

Adenotonsillectomy to treat obstructive sleep apnea: Is it enough?

Although adenotonsillectomy is the first line treatment for children with obstructive sleep apnea syndrome (0SAS),1 improvement in objectively documented outcomes is often inadequate and a substantial number of children have residual disease. Early recognition and treatment of children with persistent OSAS is required to prevent long-term morbidity. The management of these children is frequently complex and a multidisciplinary approach is required as most of them have additional risk factors for OSAS and comorbidities. In this paper, we first provide an overview of children at risk for persistent disease following adenotonsillectomy. Thereafter, we discuss different diagnostic modalities to evaluate the sites of persistent upper airway obstruction and the currently available treatment options. Pediatr Pulmonol. 2017;52:699-709. © 2016 Wiley Periodicals, Inc.

Defunciones en niños a principios de los siglos XX y XXI en Boyacá-Colombia / Deaths in children during the early twentieth and twenty-first century in Boyacá, Colombia

Objetivo Comparar y analizar las Tasas Brutas de Mortalidad (TBM), la Mortalidad en Menores (MN) de 5 años por mil Nacidos Vivos (NV) y la Mortalidad Infantil (MI) en el departamento de Boyacá-Colombia, a comienzos de los siglos XX y XXI. Métodos Estudio descriptivo comparativo con enfoque histórico epidemiológico. Se utilizaron dos fuentes de datos, para las defunciones: registros parroquiales de 1912-1927 y el Boletín epidemiológico de Boyacá 2007; para la población los censos DANE 1912-1918-1927 y 2005. Se almacenaron y analizaron en Mysql®. Se calcularon tasas brutas, específicas por edad e infantil, proporciones de mortalidad y mortalidad por causas. Resultados Entre 1912-1927 se registra una media de 7 958 muertes, en comparación con 5 813 en el siglo XXI; la TBM pasó de 150 muertes a 42 por 10 mil habitantes; la TMI se redujo considerablemente pasando de 231 a 17 por cada 1 000 NV; aunque se pueden comparar las tasas especificas en menores de 8 años con las de menores de 5, existe variabilidad en el rango y en la construcción de la TM especifica y la definida por OMS- UNICEF. Conclusiones Existe un impacto en la reducción de mortalidad, mayor en el siglo XXI, debido a las políticas nacionales e internacionales de control de enfermedades inmunoprevenibles y muerte materna. La pandemia de gripa de 1918-19 afectó considerablemente la mortalidad en todos los grupos de población; las causas violentas ocupan lugares importantes en la mortalidad infantil en el siglo XXI.

Objective Comparing and analysing crude death (CDR), child mortality (CMR) 5-year per thousand live births (LBR) and infant mortality rates (IMR) in the Boyacá department, Colombia, during the early 20th and 21st centuries. Methods A descriptive epidemiological comparative historical approach was adopted. Two data sources were used for deaths: parish registers 1912-1927 and the Boyacá Epidemiological Bulletin 2007 population census for 1912-1918-1927 and 2005 (Colombian Statistics Bureau - DANE); data was stored and analysed in Mysql. Crude rates, age-specific and child mortality ratios and mortality were calculated by cause. Results 7,958 deaths were recorded from 1912-1927 compared to 5,813 in the 21st century. CDR dropped from 150 to 42 deaths per 10,000 inhabitants; the IMR became significantly reduced from 231 to 17 for every 1,000 LB. Although specific rates for children under 8 years of age could be compared to children under 5, there was variability in the range and construction of the specific MR and that defined by WHO-UNICEF. Conclusions There was a higher reduction in mortality in the 21st century due to national and international policies for controlling preventable diseases and maternal death. The 1918-19 flu pandemic significantly affected mortality in all population groups; violent causes were prominent in infant mortality in the 21st century.

[Dissection of the descending aorta complicated by preeclampsia at 30 weeks of gestation: medical treatment and caesarean delivery]. / Dissection de l'aorte descendante et prééclampsie à 30 semaines d'aménorrhée : prise en charge médicale et césarienne.

The authors report the case of a dissection of the descending thoracic aorta in a woman in the third trimester of the pregnancy. After an initial medical therapy by a combination of three intravenous anti-hypertensive medications, a caesarean section was decided under general anaesthesia at 30 weeks of gestation as the result of the occurrence of a severe preeclampsia. The aetiology, diagnosis, and anaesthetic management are discussed.

[Review: Repetitive hydatidiform moles]. / Review : les môles hydatiformes à répétition.

Repetitive moles are rare. They are either sporadic or familial, with or without consanguinity. Some of them can be explained by a NLRP7 mutation, which causes genomic parental imprinting alteration, with a preferential paternal phenotypic expression. Currently, no effective therapeutic solution has been developed. Among the 1687 patients declared to the French Trophoblastic Disease Reference Center, 13 presented at least two hydatidiform moles, thus less than 1% of the patients. A mutation of the NLRP7 gene was shown in six of 12 tested patients (50%) among whom three presented a homozygous mutation and three a heterozygous mutation. For an affected patient, type of mole can indifferently be a complete hydatidiform mole or a partial hydatidiform mole. We describe these cases and compare them to those already published.

La pandemia de gripe de 1918-1919 en Bogotá y Boyacá, 91 años después / The influenza pandemic of 1918-1919 in Bogotá and Boyacá, 91 years later

Introducción. La pandemia de gripa de1918-1919 causó la mayor mortalidad en la historia en corto tiempo. Se estima que entre 20 millones y 50 millones de personas fallecieron en menos de un año. Los historiadores de Europa y Estados Unidos registran tres oleadas, con mayor impacto en octubre y noviembre (80% de la mortalidad), que afectaron la población económicamente activa. La gripa nos ha acompañado en América desde el segundo viaje de Colón, probablemente asociada a la importación de cerdos y caballos infectados. Materiales y métodos. Se describen las condiciones sociales y de salud en Bogotá y Boyacá, a partir de fuentes documentales de la época. Las tasas de mortalidad se calcularon a partir de los registros de la Iglesia. Resultados. Las condiciones de pobreza y hacinamiento acentuaron la letalidad. La iniciativa privada asumió el control y la atención de las víctimas, dada la ineficiencia de las autoridades. Se recolectaron 106.484 registros de defunción del periodo 1912-1927, 9,5% (10.123 muertes) por gripa. Entre octubre y noviembre de 1918, hubo 2.019 muertes en Boyacá, con una tasa de 4,8 por 1.000 habitantes, y predominio en menores de 5 años y en ancianos; no se observaron oleadas. La mayor altura sobre el nivel del mar resultó ser un factor de riesgo para la muerte por gripa. Discusión. Las condiciones actuales favorecen una nueva pandemia. Los nuevos medios de transporte podrían aumentar la velocidad de transmisión de la infección. Se hace necesario conocer el pasado y las implicaciones en la mortalidad para evitar repetir los errores en el futuro.

Introduction: The pandemic Flu of 1918-19 was the cause of the greatest mortality in history, in a very short period of time. An estimated mortality between 20 and 50 million deaths/year was calculated. The European and American researchers registered three different epidemic peaks, with a special impact between October and November (80% mortality), affecting a large proportion of the economically active population. Since Colombo’s second travel, the Flu has been within us, probably associated with the presence infected pigs and horses, brought by the Spaniards. Materials and methods: We describe the social and health conditions in Bogotá and Boyacá, from documentary sources of the time. Mortality rates were estimated from Church records. Results: Poverty and overcrowding conditions increased the epidemic lethality. As a result of the inefficiency of the authorities of that time, the control and care of victims were assumed by private organizations. We collected 106,484 records from death certificates, since 1912 until 1927; 9.5% (10,123 deaths) were caused by flu. The mortality rate attributed to the Flu was 4.8 per 1,000 people (2,019 deaths) between October and November of 1918. Children under 5 years and the elder people were mainly affected by Flu. The highest altitude above sea level was a risk factor for Flu mortality and non epidemic waves were observed. Discussion: Due to current general conditions, a new epidemic is possible. New means of transportation may increase its transmission rate. Lessons from the past can lead us to avoid repeating same mistakes in the future.

Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.

Germline mutations in the succinate dehydrogenase (SDH) (mitochondrial respiratory chain complex II) subunit B gene, SDHB, cause susceptibility to head and neck paraganglioma and phaeochromocytoma. Previously, we did not identify somatic SDHB mutations in sporadic phaeochromocytoma, but SDHB maps to 1p36, a region of frequent loss of heterozygosity (LOH) in neuroblastoma as well. Hence, to evaluate SDHB as a candidate neuroblastoma tumour suppressor gene (TSG) we performed mutation analysis in 46 primary neuroblastomas by direct sequencing, but did not identify germline or somatic SDHB mutations. As TSGs such as RASSF1A are frequently inactivated by promoter region hypermethylation, we designed a methylation-sensitive PCR-based assay to detect SDHB promoter region methylation. In 21% of primary neuroblastomas and 32% of phaeochromocytomas (32%) methylated (and unmethylated) alleles were detected. Although promoter region methylation was also detected in two neuroblastoma cell lines, this was not associated with silencing of SDHB expression, and treatment with a demethylating agent (5-azacytidine) did not increase SDH activity. These findings suggest that although germline SDHB mutations are an important cause of phaeochromocytoma susceptibility, somatic inactivation of SDHB does not have a major role in sporadic neural crest tumours and SDHB is not the target of 1p36 allele loss in neuroblastoma and phaeochromocytoma.

A novel 1p36.2 located gene, APITD1, with tumour-suppressive properties and a putative p53-binding domain, shows low expression in neuroblastoma tumours.

Neuroblastoma is characterised by a lack of TP53 mutations and no other tumour suppressor gene consistently inactivated has yet been identified in this childhood cancer form. Characterisation of a new gene, denoted APITD1, in the neuroblastoma tumour suppressor candidate region in chromosome 1p36.22 reveals that APITD1 contains a predicted TFIID-31 domain, representing the TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. Two different transcripts of this gene were shown to be ubiquitously expressed, one of them with an elevated expression in foetal tissues. Primary neuroblastoma tumours of all different stages showed either very weak or no measurable APITD1 expression, contrary to the level of expression observed in neuroblastoma cell lines. A reduced pattern of expression was also observed in a set of various tumour types. APITD1 was functionally tested by adding APITD1 mRNA to neuroblastoma cells, leading to the cell growth to be reduced up to 90% compared to control cells, suggesting APITD1 to have a role in a cell death pathway. Furthermore, we determined the genomic organisation of APITD1. Automated genomic DNA sequencing of the coding region of the gene as well as the promoter sequence in 44 neuroblastoma tumours did not reveal any loss-of-function mutations, indicating that mutations in APITD1 is not a common abnormality of neuroblastoma tumours. We suggest that low expression of this gene might interfere with the ability for apoptosis through the p53 pathway.

Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.

The genes encoding Caspase-9 and DFF45 have both recently been mapped to chromosome region 1p36.2, that is a region alleged to involve one or several tumour suppressor genes in neuroblastoma tumours. This study presents an update contig of the 'Smallest Region of Overlap of deletions' in Scandinavian neuroblastoma tumours and suggests that DFF45 is localized in the region. The genomic organization of the human DFF45 gene, deduced by in-silico comparisons of DNA sequences, is described for the first time in this paper. In the present study 44 primary tumours were screened for mutation by analysis of the genomic sequences of the genes. In two out of the 44 tumours this detected in the DFFA gene one rare allele variant that caused a non-polar to a polar amino acid exchange in a preserved hydrophobic patch of DFF45. One case was hemizygous due to deletion of the more common allele of this polymorphism. Out of 194 normal control alleles only one was found to carry this variant allele, so in respect of it, no healthy control individual out of 97 was homozygous. Moreover, our RT-PCR expression studies showed that DFF45 is preferably expressed in low-stage neuroblastoma tumours and to a lesser degree in high-stage neuroblastomas. We conclude that although coding mutations of Caspase-9 and DFF45 are infrequent in neuroblastoma tumours, our discovery of a rare allele in two neuroblastoma cases should be taken to warrant further studies of the role of DFF45 in neuroblastoma genetics.

Beat-to-beat evaluation of cardiac function in low-dose endotoxemia using a conscious sheep model.

The effects of very low doses of endotoxin (20 ng/kg/h for 8 h) were evaluated in a conscious sheep model in which introducers for catheters for monitoring pressure and ventricular dimensions had been previously inserted so that the studies could be performed without anesthesia and without a previous thoracotomy. Analog data was obtained at hourly intervals for 10 h and again at 24 h and was used to construct a beat-to-beat analysis of left ventricular performance. Only minimal effects were observed on heart rate, end diastolic pressure, arterial pressure, cardiac output, or cardiac work, although there was a significant rise in pulmonary artery pressure at 1 h of infusion. Despite the absence of changes in heart rate, preload, or afterload, maximal dp/dt decreased significantly by 4 h and remained decreased for the 10-h observation period; it returned to normal at 24 h. End systolic elastance decreased at 6 h and Pmax/EDV, a new indicator of performance, also decreased at 6 and 9 h. Thus, systolic performance decreased. Negative dp/dt did not change, but time for relaxation from 80% to 20% of peak ventricular pressure increased significantly at 5, 6, and 8 h. Plasma TNF-alpha was also measured and showed a significant rise at 2 h, but rapidly decreased thereafter. These results indicate an early depression of myocardial contractility and distensibility at doses of endotoxin insufficient to produce measurable effects on arterial pressure or cardiac output.

Fine mapping of a tumour suppressor candidate gene region in 1p36.2-3, commonly deleted in neuroblastomas and germ cell tumours.

BACKGROUND: A common genetic feature of neuroblastomas, which is also an important prognostic factor, is deletion of chromosome region 1p. The deletion of 1p often involves a deletion of varying size, with a consensus region within the most distal bands 1p36.2-3. The neuroblastoma SRO (shortest region of overlap of (deletions) presented earlier by our group was defined distally by the cluster of loci D1S80/ D1Z2/CDC2L1 and proximally by loci D1S244, i.e., approximately 25 cM. The 1p deletions are, however, not restricted to neuroblastoma tumours. In fact, a large spectrum of tumour types display deletions to varying degrees of 1p. PROCEDURE: We have exploited the possibility of using deletions of other tumour types, preferentially that of germ cell tumours, and combining the deletions with that of the neuroblastoma SRO. Also in germ cell tumours, distal 1p-deletions have been shown to have prognostic significance. RESULTS: We found in our germ cell tumours a SRO ranging from D1S508 to D1S200. Interestingly, this region only partially overlapped (approximately 5 cm) with our neuroblastoma SRO in region D1S508 to D1S244. We have thus focused on analysing this smaller region in the search for genes involved in the genesis of different cancers. We have performed radiation hybrid mapping of a large number of markers, STSs, ESTs, and others known to reside in 1p. We have also initiated the development of a BAC contig of the region. FISH, and fibre-FISH mapping of BACs were also performed. CONCLUSIONS: The data presented here constitute an ongoing work with the aim of identifying and cloning gene(s) important for development of germ cell tumours, neuroblastomas, and possibly other tumours.

Rabdomioma cardiaco biventricular: reporte de un caso diagnosticado in utero por ecografía / Biventricular cardiac rhabdomyoma: report of a case diagnosed in utero by echography

Se reporta el caso de un rabdomioma cardiaco congénito múltiple biventricular, diagnosticado a un feto in utero, mediante ultrasonido prenatal en una mujer de veinte años con un embarazo de 22 semanas. El seguimiento por ecografía fetal permitió la valoración del caso, procediéndose a la interrupción de la gestación y confirmación del diagnóstico. El estudio de la madre en la Consulta de Genética concluyó que era portadora de esclerosis tuberosa

Effectiveness of endoscopic and open surgical management in benign ureteral strictures.

OBJECTIVE: To assess the effectiveness of different treatment modalities for benign ureteric strictures. SETTING: Department of Urology, Al-Emiri Hospital, Kuwait. PATIENTS AND METHODS: Twenty four cases (19 unilateral and 5 bilateral) of ureteral strictures were reviewed. Retrograde endoscopic dilatation was tried, initially for all of the strictures. Technical failure was observed in 8/29 (27.5%) strictures. Three of them were negotiated through antegrade endoscopic dilatation, while in 5 of the strictures open surgical repair was required. Both the balloon and fascial dilator were used for endoscopic dilatation; ureteroneocystostomy with or without Boari's bladder flap were the procedures employed for open repair. RESULTS: Of the 29 strictures the majority were secondary to Bilharzial cystitis (66.6%). Twenty-four (82.7%) strictures underwent endoscopic manipulation and 5 (17.2%) had open repair. Among the 24 strictures that had endoscopic dilatation, 21 (87.5%) were managed in retrograde fashion while in 3 (12.5%) technical failures were due to the inability to canulate the strictured ureter with a guide wire in retrograde fashion. All these patients were treated successfully by antegrade stenting. Among 24 strictures that were initially managed with dilatation and stenting, recurrence was found in 9 (37.5%) patients. The group had open repair, no recurrence was found during the follow up. There was no serious intraoperative or postoperative complications of both the procedures. Patients were followed up with intravenous urography. CONCLUSION: Endoscopic dilatation is an effective treatment modality for partial benign ureteric strictures. However, open ureteroneocystostomy with or without Boari's flap or Psoas hitch should be reserved for complete or recurrent ureteric strictures. Bilharzial strictures are amenable to endoscopic dilation but recurrence rate is high and re-implantation is frequently required.

Fine mapping of the human preprocortistatin gene (CORT) to neuroblastoma consensus deletion region 1p36.3-->p36.2, but absence of mutations in primary tumors.

The processed product of the human gene preprocortistatin, the peptide cortistatin-17 (hCST-17), bears a strong structural resemblance to the peptide somatostatin (SST), which has an identical receptor binding domain. CST has affinity to all known SST receptor (SSTR) subtypes. Expression of both SST and its receptors has been shown in previous studies to have biological and clinical significance in neuroblastomas, with a putative role in tumor differentiation and apoptosis in vivo. In this work we have employed radiation hybrid mapping and BAC physical mapping to map the human preprocortistatin gene (CORT) to chromosome region 1p36.3-->p36.2, close to the genetic marker D1S244. D1S244 defines the centromeric border of the smallest region of overlap of deletion in our primary neuroblastoma material. We have also defined the genomic sequence of the gene by BAC sequencing and found that preprocortistatin consists of two exons divided by a 1-kb intron. Two polymorphic sites, neither of which causes amino acid exchange, have been detected in the coding region of the gene. Expression studies showed that preprocortistatin is expressed in neuroblastomas of all different stages, as well as in ganglioneuromas. Through genomic sequencing we made mutation analyses of exonic sequences in 49 primary neuroblastomas of all different stages, but no mutations could be detected.