EZH2 mutations at diagnosis in follicular lymphoma: a promising biomarker to guide frontline treatment.

EZH2 is mutated in nearly 25% of follicular lymphoma (FL) cases. Little is known about how EZH2 affects patients' response to therapy. In this context, the aim of this study was to retrospectively analyze the frequency of mutations in EZH2 at diagnosis in tissue and ctDNA in patients with FL and to assess the patients' outcomes after receiving immunochemotherapy, depending on the EZH2 mutation status. Among the 154 patients included in the study, 27% had mutated EZH2 (46% with high-grade and 26% with low-grade FL). Of the mutated tissue samples, the mutation in ctDNA was identified in 44% of cases. EZH2 mutation in ctDNA was not identified in any patient unmutated in the tissue.Unmutated patients who received R-CHOP had significantly more relapses than patients who received R-Bendamustine (16/49 vs. 2/23, p = 0.040). Furthermore, our results show that patients with mutated EZH2 treated with R-CHOP vs. those treated with R-Bendamustine present a lower incidence of relapse (10% vs. 42% p = 0.09 at 4 years), a higher PFS (92% vs. 40% p = 0.039 at 4 years), and higher OS (100% vs. 78% p = 0.039 at 4 years). Based on these data, RCHOP could be a more suitable regimen for mutated patients, and R-bendamustine for unmutated patients. These findings could mean the first-time identification of a useful biomarker to guide upfront therapy in FL.

Visibilizando a las cirujanas en Chile / Making female surgeons visible in Chile

Resumen Introducción: La cirugía ha sido tradicionalmente considerada una especialidad masculina. Se desconoce si el aumento en el número de médicas en las últimas décadas ha producido un aumento significativo en el número de cirujanas. Objetivo: Analizar y visibilizar la participación actual e histórica de las mujeres en Medicina y en Cirugía General en Chile. Materiales y Método: Estudio retrospectivo de la cohorte de médicas/os y cirujanas/os egresados de escuelas de medicina chilenas desde el año 1970, complementado con estudio de corte transversal para conocer la información actual de las cirujanas y residentes. Las fuentes de datos fueron los Registros de la Superintendencia de Salud, CONACEM y el Catastro de la Asociación de Cirujanas. Resultados: Ha existido un aumento sostenido de médicas egresadas sobrepasando a sus pares masculinos a partir de 2018. Las cirujanas representan el 15% del total de cirujanas y cirujanos, y este número se ha duplicado por década a partir de los años 70. Actualmente, 33% de los residentes en formación son de género femenino. Las áreas más comunes de desarrollo son cirugía general (35%), y dentro de las subespecialidades: mama, plástica y cabeza y cuello. Conclusión: Las mujeres siguen siendo minoría en cirugía; sin embargo, se ha producido un aumento progresivo y se espera siga la misma tendencia. Es necesario visibilizar la importancia de las cirujanas para que sirvan como modelo a nuevas generaciones de estudiantes y así poder aumentar la representación femenina en la especialidad.

Introduction: Surgery traditionally has been considered a male discipline. It is unknown if the increase in the number of female doctors in the last decades has increased the number of female surgeons. Aim: Is to analyze and make visible the historical and current participation of women in Medicine and Surgery in Chile. Materials and Method: Retrospective cohort study of all medical doctors and surgeons graduated from chilean Universities since 1970 to date, and cross-sectional study to know current information of female surgeons and residents. Source of data were the Registries of Health Superintendence, CONACEM and the Registry of the Female Surgeon Association. Results: There has been a steady increase in the number of graduated female doctors in Chile, surpassing male doctors since 2018. Female surgeons are 15% of all surgeons, and the number has duplicated every decade since 1970s. Currently, 33% of the residents are female. Main area of developing is general surgery (35%), and within subspecialties: Breast, Plastics, and Head and Neck. Conclusions: Women are still underrepresented in Surgery: however, there has been a steady increase and that trend is expected to continue. It is necessary to make visible the importance of female surgeons to be able to increase female representation.

Primeras cirujanas de Chile / First female surgeons of Chile

Resumen En el año 2020 las cirujanas chilenas se reunieron en torno a la necesidad de trabajar para solucionar varios problemas que aquejan a la labor quirúrgica de la mujer en nuestro país, desde la formación de pregrado en adelante. Algunos de estos problemas son la poca visibilidad de la mujer en cirugía y la falta de reconocimiento de las cirujanas líderes y referentes del pasado y actuales. El objetivo de esta investigación fue indagar quienes habían sido las primeras cirujanas de Chile. La búsqueda fue difícil, ya que la información en la internet es escasa, por lo que se recurrió a entrevistas a discípulos y a algunas de las primeras cirujanas tanto en su especialidad o región del país. La cronología muestra lo reciente que ha sido la llegada de cirujanas a algunas regiones o la escasa representatividad de cirujanas en algunas subespecialidades. Esto se puede entender por barreras legales y culturales que han tenido que enfrentar las mujeres desde el ingreso a la carrera de medicina hasta el poder desarrollar la especialidad en cirugía a lo largo de la historia de este país.

In 2020, Chilean women surgeons gathered to discuss different problems affecting the development of a career in surgery. Through the history of the medicine and surgery in Chile, there have been several legal and cultural barriers that have kept women out of this specialty. One of this problem is the lack of knowledge of who were the first female surgeons and the lack of awareness of that there are women that can be leaders as well as male surgeons. So, generations of medical students and residents continue thinking that surgery might be a man's job. The purpose of this investigation is to reveal who went and are the first women surgeon in this country, not only in their time but also in their specialty, so we all know that there were and there still are pioneers among us.

Rathke's cleft cyst infections and pituitary abscesses: case series and review of the literature.

PURPOSE: Pituitary abscesses (PAs) are a rare clinical entity which may arise from normal pituitary tissue or underlying lesions within the gland. Rathke's cleft cysts (RCCs) are not commonly associated with the development of PA. METHODS: Retrospective chart review of three patients with PAs within RCCs at a single university center and review of the literature. RESULTS: Three cases are reported. The first case presented with fever and headache and a history of prior surgery due to RCC and a recent respiratory tract infection. The second case had a history of recent skin infections and presented with sudden onset headache and hypopituitarism. In the third case, chronic visual field impairment prompted an ophthalmologic evaluation resulting in a diagnosis of an adenoma and an infected RCC. In all three cases, an endoscopic endonasal approach was performed to drain infected tissue and allowed microbiological identification of gram-positive cocci, followed by treatment with antibiotics for at least three weeks. Cases in the literature are scarce and the diagnosis is usually made intraoperatively due to non-specific manifestations and imaging. PAs arising from underlying pituitary lesions are less common than primary PAs. Differential diagnosis should include pituitary apoplexy, hypophysitis and other cystic lesions. CONCLUSION: PAs occurring in RCCs are infrequent. Clinical manifestations are commonly subacute, without septic symptoms. Imaging is usually non-specific. Preoperative diagnosis is infrequent and a broad differential diagnosis should be considered. Empirical antimicrobial therapy should be initiated and adjusted after obtaining cultures to reduce the rate of recurrence and improve clinical outcomes.

Utilidad de la Determinación de CD25 Soluble en Pacientes con sospecha de Síndrome de Activación Macrofágica / Usefulness of the determination of soluble CD25 in patients with suspected macrophage activation syndrome

El síndrome de activación macrofágica (SAM) presenta criterios clínicos y de laboratorio establecidos. Presentamos el caso de un adolescente varón con debut de Lupus eritematoso generalizado pediátrico grave, donde su manifestación principal fue un SAM y el receptor de interleucina 2 soluble en suero (IL-2rs) o CD25 soluble (CD25s) aumentado resultó clave en la confirmación diagnóstica, en el tratamiento y pronóstico de su enfermedad. Sin embargo, este receptor de citocinas no se mide habitualmente en la práctica clínica.

Macrophage activation syndrome (MAS) presents established clinical and laboratory criteria. We present the case of a male adolescent with the onset of severe pediatric systemic Lupus erythematosus, manifested mainly by MAS and how a laboratory marker, serum soluble interleukin-2 receptor (IL-2rs) or altered soluble CD25(CD25s), played a key role in treatment and prognosis of the disease. However, this cytokine receptor is rarely measured in clinical practice.

Evaluación de carga física en los procesos de empacado de fruta en empresas de la provincia de río negro en la patagonia, argentina

Introducción. Este estudio observacional de corte transversal describió el análisis realizado con una población de ocho operarios, para valorar la exposición a carga física de los trabajadores de la actividad de empaque de fruta en la provincia de Río Negro, Argentina. Métodos. El análisis que se efectuó con los métodos manuales RULA y Check List OCRA, favoreció la evaluación de la exposición a factores de riesgo que pueden ocasionar trastornos en miembros superiores. Resultados. La carga física en las actividades de selección y empaque de fruta alcanzan niveles críticos en movimientos y esfuerzos, están relacionados con más de 15 enfermedades de acuerdo con la OIT y la legislación argentina. Para disminuir el nivel de riesgo, se recomendaron tiempos de descanso, rotación de personal, apoyos corporales adecuados, entre otros. Conclusión. Se recomienda evaluar el proceso de manera sistémica para proponer una intervención integral que mejore el bienestar de los operarios.

Introduction. This cross-sectional observational study described the analysis carried out with a population of eight operators to assess the exposure of fruit packing workers to a physical load in the Rio Negro province, Argentina. Materials and methods. The analysis carried out with the RULA and OCRA Checklist manual methods favored assessing exposure to risk factors that can cause upper limb disorders. Results. According to the ILO and Argentine legislation, the physical load in the fruit selection and packing activities reaches critical levels in movements and efforts; they are related to more than 15 diseases. Breaks, staff rotation, adequate body support, among others, are recommended to reduce the level of risk. Conclusion. It is advisable to assess the process systemically to propose a comprehensive intervention that improves the operators' well-being.

Diagnosis of Taeniosis in rural Venezuelan communities: Preliminary characterization of a Taenia solium specific monoclonal (VP-1) Coproantigen ELISA.

The objective of this study was to identify and treat carriers of adult Taenia solium present in two rural Venezuelan communities through examination of faecal samples by coproscopical analysis, and by the application of a polyclonal and a monoclonal (VP-1) coproantigen ELISA. Both the polyclonal and monoclonal ELISA's were negative when tested with soluble extracts of adults of Ascaris lumbricoides, Hymenolepis nana and Trichuris trichura. The polyclonal ELISA was positive for soluble extracts adults of T. solium and T. saginata, whereas the monoclonal ELISA, which recognizes a glycoprotein, was restricted to T. solium, and was also negative with faecal samples from five cases of T. saginata adult infections. In the first community studied, Potrero Largo (Total population: 300), of 248 faecal samples examined, 2 individuals were positive for Taenia spp eggs by coproscopical analysis and the VP-1 ELISA, and yielded T. solium adults upon purging. In contrast, when the polyclonal coproAg ELISA was applied to the same 248 faecal samples, there were a considerable number of positives. Indeed, seven patients highly positive in the polyclonal ELISA did not yield a Taenia spp upon purging and were negative in the VP-1 ELISA. In the second community studied La Yuca (Total population 560), none of the 333 individuals who donated faeces was positive for Taenia spp eggs. Many, however, were infected with a range of intestinal helminth and protozoan parasites. A total of 76 faecal samples with representative intestinal parasite were then tested in the polyclonal and VP-1 assays. Of these, many gave an unacceptable number of significant optical densities in the polyclonal coproAg ELISA. In contrast, all were negative in the VP-1 ELISA, thus providing evidence for the species specificity of the VP-1 ELISA in faecal samples. These results with the VP-1 coproAg ELISA, although preliminary, justify further validation through the testing of more faecal samples from T. solium and T. saginata adult infected individuals.

Epstein Barr virus associated smooth muscle tumors in the central nervous system: a case report and systematic review of the literature.

PURPOSE: Epstein Barr virus (EBV)-associated smooth muscle tumors (SMT) in the central nervous system are rare tumors. EBV-associated SMT mainly occur in patient with compromised immune status. We report on a case of a HIV positive patient, who developed multiple EBV-SMTs, intracranially and in the spine. We systematically review the literature on the topic. CASE REPORT: A 46 years old female with HIV was imaged for complaints of headaches for 2 years, when an intracranial lesion was found. The patient was followed with sequential MRI scans before an excision was performed 5 years later. Pathology revealed an EBV-associated SMT. Multiple other lesions appearing in the brain and in the spine over years were treated by stereotactic radiosurgery or by surgery. At the time of this report, the patient is alive under HARRT treatment without recurrence. METHODS: A systematic PRISMA guided literature research was conducted on the topic reviewing multiple databases for EBV-associated SMT located in brain or spine. We identified 52 patients from the literature and performed a pooled analysis. RESULTS: All patients in this cohort except one were immuno-suppressed from HIV, post-transplant therapy or because of CIS. Female predominance and a median age of 35 years was identified as was frequent multifocality. Therapeutic strategies varied but were mostly multidisciplinary with surgery. CONCLUSION: Based on our results, EBV-associated SMT should be included in the differential diagnosis of intracranial lesions mimicking meningiomas in immuno-suppressed patients. Stereotactic radiosurgery can be offered as an alternate treatment option for suitable lesions. Long-term surveillance via MRI scanning is recommended for follow up.

Changes in the GN/GCof the M segment show positive selection and recombination of one aggressive isolate and two mild isolates of tomato spotted wilt virus.

We isolated and compared three tomato spotted wilt virus (TSWV) isolates from lettuce (TSWV-Let), pepper (TSWV-Pep), and tomato (TSWV-Tom) from central Mexico to determine their ability to infect a set of eighteen differential plant species from seven families. TWSV-Let was an aggressive isolate with the ability to infect up to 52% of the differential plants, including maize, under greenhouse conditions. The nucleotide (nt) sequences of the three isolates are more than 90% similar in the M and S RNA segments. In the M segment of the TSWV-Let isolate, we detected nt changes in their intergenic region (IGR) and, in the Gc gene, a region containing a recombination site, as well as a synapomorphy associated with one of three sites under positive selection with a change in one aa residue (a cysteine-to-valine mutation). We speculate on the association of these features in the Gc gene with host selection, adaptation, aggressiveness, and ability to infect maize plants.

Selenium and cadmium in bioaccessible fraction of organic weaning food: Risk assessment and influence of dietary components.

BACKGROUND: The tendency of some sectors of the population to consume organic food has also come to include baby food. Nevertheless, it is necessary to develop studies to support the true nutritional and toxicological value of these products, making special emphasis in several trace elements. To our knowledge, no studies have been conducted on this type of organic food. METHODS: Weaning foods with different formulations categorized as organic were analyzed to determine Se and Cd contents as well as its bioaccesibility. The analyses were conducted by electro thermal atomic absorption spectroscopy (ET - AAS) after the treatment of the samples with acid mineralization. Besides, macronutrient analyses (protein, fat and dietary fiber) were also developed. Finally, a novelty statistic approach such as @Risk was used to evaluate contributions to DRI or PTWI of Se and Cd derived for consumption of these weaning foods. RESULTS: Se content ranged between 2.44-15.4 µg Kg 1. Samples with meat ingredients showed the highest Se contents, while weaning foods consisting of fruits or vegetables presented the lowest concentrations. Se bioccessible concentration ranged between 1.90-4.35 µg Kg-1 with a greater uniformity amongst analyzed samples. Regarding Cd, concentrations of this heavy metal ranged between 1.23 and 3.64 µg Kg-1. Furthermore, Cd bioaccessibility of organic weaning foods ranged between 0.17 and 1.38 µg Kg-1. The solubility of all samples studied was around 20% from the initial Cd concentration. A negative statistical correlation between fat content - Cd bioaccesible (p < 0.05; r = - 0.756) and Cd content - Se bioaccesible (p < 0.05; r = - 0.777) were also found. CONCLUSIONS: Cd concentrations are considerably lower than those reported in weaning formulas which were not categorized as organic. On the other hand, the analysed organic jars did not represent a significant source of Se. The probabilistic assessment developed, showed that contributions to DRI of Se for infants 1-3 years old by consumption of these weaning foods, are excessively low (15% at best).

CHARACTERISATION OF TLDS-200 AND OSLDS AT LOW X-RAY ENERGIES AND DETERMINATION OF EYE LENS DOSE, THYROID DOSE AND MEAN GLANDULAR DOSE DURING STANDARD MAMMOGRAPHY AND TOMOSYNTHESIS.

The objective of this study was to characterise thermoluminescent (TLDs) and optically stimulated luminescent dosimeters (OSLDs) at low X-ray energies and estimate the eye lens (DL), thyroid (DT) and mean glandular (DG) doses received during Full-Field Digital Mammography (FFDM) and Digital Breast Tomosynthesis (DBT). The dosimeters were characterised in mammography energies. DL, DT and DG were estimated in FFDM and DBT mode taping dosimeters on the skin of the thyroid gland and on the left eye lens of an Alderson phantom. Dosimeters were also placed on the top of a NORMI PAS phantom simulating a compressed breast. The accuracy, precision and lower limit of detection (LLD) for TLDs and OSLDs were 5 and 8%, 6 and 3%, and 38 and 11 µSv, respectively. The linearity of the kerma response had an R2 > 0.99 and energy dependence was lower than 40%. DT ranged from 0.40 to 2.87 µGy for FFDM and 1.27 to 5.99 µGy for DBT. DG was between 0.50 and 1.27 mGy for FFDM and 1.07 and 1.60 mGy for DBT. DL was below the LLD. Dosimeters showed good performance. DG values were lower than those found in the literature, whereas DT value agreed with references. Differences between DG and DT determined with OSLDs and TLDs were lower than 10% and 200%.

Comparative activity of a polyhexanide-betaine solution against biofilms produced by multidrug-resistant bacteria belonging to high-risk clones.

The aim of this study was to investigate the effect of polyhexanide (polyhexamethylene biguanide)-betaine (PHMB-B) compared with 2% chlorhexidine against biofilms of high-risk and/or multidrug-resistant bacterial clones. The minimum inhibitory concentrations of both biocides were determined by microdilution. The effect of PHMB-B and chlorhexidine on biofilm was evaluated by spectrophotometry and cell viability assays. At commercial concentrations, PHMB-B reduced 24 h, 48 h and 1-week biofilms of all pathogens tested. PHMB-B was more active than 2% chlorhexidine against Gram-negative bacterial 24 h and 48 h biofilms and Gram-positive bacterial 7-day biofilms. In summary, the activity of PHMB-B was superior to that of 2% chlorhexidine in those biofilms.

Economic evaluation of sunitinib versus pazopanib and best supportive care for the treatment of metastatic renal cell carcinoma in Chile: cost-effectiveness analysis and a mixed treatment comparison.

Background: Sunitinib and Pazopanib are two metastatic renal cell carcinoma (MRCC) treatment alternatives, however the health system in Chile does not consider coverage for any. The cost-effectiveness versus relevant comparator was assessed to support evidence-based decision making. Methods: A four health states Markov model was built: first, second line treatments, BSC and death. Benefits were measured in QALYs, and efficacy estimates were obtained from an indirect treatment comparison. A 10-year time horizon and a 3% undifferentiated discount rate were considered. Deterministic and probabilistic sensitivity analyses were performed. Results: The costs of treating MRCC with Sunitinib were higher than Pazopanib and BSC. When comparing Sunitinib versus Pazopanib, the incremental benefit is small favoring Sunitinib (0.03 QALYs). The base case scenario shows an average ICER of PA versus BSC of US$62,327.11/QALY and of US$85,885/QALY for Sunitinib versus Pazopanib. The ICER was most sensitive to the OS relative to BSC, where evidence was associated to important bias. Conclusions: Sunitinib or Pazopanib can be considered cost-effective if a 3 GDP per-capita threshold is assumed. The decision between SU or PA is highly sensitive to the price of the drugs, rather than the outcomes. Therefore, the decision might be made based on cost-minimization exercise.

Physicochemical and microbiological stability of two news oral liquid formulations of clonidine hydrochloride for pediatric patients.

Pediatric patients present changing physiological features. Because of the lack of land suitable for commercial management, pediatric specialties very often need to prepare extemporaneous formulations to improve the dosage and administration of drugs for children. Oral liquid formulations are the most suitable for pediatric patients. Clonidine is widely used in the pediatric population for opioid withdrawal, hypertensive crisis, attention deficit disorders and hyperactivity syndrome, and as an analgesic in neuropathic cancer pain. The objective was to study the physicochemical and microbiological stability and determine the shelf life of an oral solution containing 20 µg/mL clonidine hydrochloride in different storage conditions (5 ± 3 °C, 25 ± 3 °C, and 40 ± 2 °C). Using raw material with excipients safe for all pediatric age groups, two oral liquid formulations of clonidine hydrochloride were designed (with and without preservatives). Solutions stored at 5 ± 3 °C (with and without preservatives) were physically and microbiologically stable for at least 90 days in closed containers and for 42 days after opening. Two oral solutions of clonidine hydrochloride 20 µg/mL were developed for pediatric use from raw materials that are readily available and easy to process, containing safe excipients that are stable over a long period of time.

Transmission of porcine cysticercosis in the Portuguesa state of Venezuela.

The aim of this study was to assess transmission of Taenia solium cysticercosis in Palmarito Arriba, a small village in the rural area of the Portuguesa state of Venezuela, through (1) an evaluation of T. solium transmission risk factors present in the community and (2) serological detection of the secreted metacestode HP10 antigen (HP10 Ag) and of anti-metacestode antibodies in sera from rural pigs. Risk factors associated with transmission of cysticercosis were the following: 100% (23/23) of the households lacked piped water, 87.0% (20/23) of households lacked latrines, 88.0% (100/114) of inhabitants routinely defecated in the open/air, 19.05% (12/63) of the interviewed population had observed proglottids in their stools. More significantly, 9/13 householders breeding pigs reported seeing proglottids in their stools. Of the 25 pigs available for bleeding and serological testing, 64% (16/25) were free roaming and 36% (9/25) were "backyard" animals; 28% (7/25) were seropositive for both the HP10 Ag and antibody, 20.0% (5/25) were seropositive for HP10 Ag alone, and 36.0% (9/25) were seropositive for antibody alone. Given this clear evidence of endemic porcine cysticercosis, further studies are needed to assess and control the level of porcine and human taeniasis and cysticercosis in this and neighboring communities.

Síndrome de schimmelpennig. a propósito de un caso / Schimmelpennig syndrome. report of a case

RESUMEN El síndrome de Schimmelpenning es un desorden neurocutáneo sistémico raro caracterizado por nevo sebáceo extendido, de ubicación primordialmente craneofacial, y compromiso de diferentes órganos neuroectodérmicos. Los principales desórdenes del sistema nervioso central (SNC) comprenden retraso mental, convulsiones y hemimegalencefalia. Otras anomalías asociadas incluyen oculares, osteoesqueléticas, cardiovasculares y genitourinarias. Reportamos el caso de una paciente femenina de 4 meses de edad con lesiones cutáneas y sistémicas compatibles con Syndrome de Schimmelpenning - Feuerstein - Mims y RMN que muestra compromiso del SNC.

SUMMARY Schimmelpenning syndrome is a rare congenital neurocutaneous disorder characterized by extensive nevus sebaceous, mainly craniofacial, and abnormalities in different neuroectodermal organ systems. The most common central nervous system disorders are intellectual disability, seizures and hemimegalencephaly. Other associated anomalies include ocular, skeletal, cardiovascular and genitourinary. We report a four month old female patient with cutaneous and systemic lesions compatible with Schimmelpenning - Feuerstein - Mims syndrome and MRI showing central nervous system compromise. system compromise include seizures, mental retardation and anatomic alterations that include cranial asymmetry, hemimegalencephaly with asymmetric and dilated ventricles, and calcium deposit. We report the case of a four month old female patient with skin and systemic lesions compatible with Schimmelpenning syndrome and MRI showing its central nervous system compromise.

Enfermedad de células falciformes: un diagnóstico para tener presente / Sickle cell disease: a diagnosis to keep in mind

La enfermedad de células falciformes (ECF) es un trastorno genético autosómico recesivo. Es la hemoglobinopatía estructural más frecuente en todo el mundo y se produce por alteración en los genes de la cadena de globina. En Chile, no hay datos sobre la prevalencia de la ECF ya que es considerada una condición muy rara. La incidencia de esta enfermedad ha venido aumentando debido a la migra ción de personas de áreas con mayor prevalencia de ECF. Por esta razón resulta importante conocer y considerar este diagnóstico en un grupo seleccionado de pacientes con anemia, para prevenir y tratar las diferentes complicaciones de la enfermedad. En este artículo se revisan los nuevos aportes en el conocimiento de la fisiopatología, con especial énfasis en aquellas publicaciones de consenso y guías relacionadas al diagnóstico y manejo de esta entidad.

Sickle cell disease (SCD) is an autosomal recessive genetic disorder. It is the most frequent structural hemoglobinopathy worldwide, and it is produced by an alteration in the globin chain genes. In Chile, there is no data on the prevalence of SCD since it is considered a very rare condition. The incidence of this disease has been increasing due to migration of people from areas with greater presence of SCD. It is important to know and consider this diagnosis in a selected group of patients with anemia, in order to prevent and treat the different complications of this disease. This article reviews the most recent information that shows new concepts in the knowledge of the physiopathology, and especially publications of guidelines and consensus in relation to the diagnosis and management of this con dition.

Genioglossus muscle advancement and simultaneous sliding genioplasty in the management of sleep apnoea.

Genioglossus muscle advancement (GMA) was reported in 1993 as an option for the surgical treatment of obstructive sleep apnoea syndrome (OSAS), in the context of phase I of the Stanford University (Powell-Riley) protocol. The rationale for this technique is the placement of tension on the base of the tongue, thus preventing the tongue from falling back into the posterior airway space. However, in retrognathic patients undergoing phase I of the Stanford University protocol, an additional genioplasty will provide a better aesthetic outcome. Furthermore, genioplasty is one of the most common and versatile techniques used for the correction of dentofacial deformities. The aim of this article is to describe a technique that allows a combination of genioglossus muscle advancement (GMA) and a simultaneous sliding genioplasty. This technique can be used in patients undergoing phase I surgery, or in patients in whom a sliding genioplasty could be complemented by GMA. The advantage of this procedure is the aesthetic enhancement obtained in GMA patients. The indications, contraindications, complications, and outcomes of surgery in the first 15 patients treated with this technique are reported herein.

Reparación laparoscópica de hernia hiatal paraesofágica con material protésico / Laparoscopic repair of paraesophageal hiatal hernia with prosthetic material

El manejo quirúrgico de las Hernias Hiatales Paraesofágicas puede ser realizado por toracotomía izquierda o por laparoscopía. Ambos abordajes son aceptables, pero actualmente se ha incrementado mucho el abordaje laparoscópico por las características de mínima invasividad, pero con la utilización de material protésico como forma de refuerzo, cuando el hiato esofágico es superior a 5 cm. Los objetivos del abordaje laparoscópico son la reducción anatómica completa y la competencia del esfínter esofágico inferior. Estos objetivos se consiguen con el cierre de la crura diafragmática y la funduplicatura laparoscópica. Se presentan dos casos clínicos donde se ha utilizado malla de Poliester fijada con tackers colocada en forma de C con la apertura hacia la cara anterior y el solapamiento por delante del esófago. CONCLUSIÓN: El uso de material protésico en la reparación del defecto de las Hernias Hiatales Gigantes es una alternativa razonable.

The surgical management of Paraesophageal Hiatal Hernia can be performed by left thoracotomy or by laparoscopy. Both approaches are acceptable, but currently the laparoscopic approach has increased greatly due to the characteristics of minimal invasiveness, but with the use of prosthetic material as a form of reinforcement, when the esophageal hiatus is greater than 5 cm. The objectives of the laparoscopic approach are a complete anatomic reduction and lower esophageal sphincter competition. These objectives are achieved with the closure of the diaphragmatic crural and laparoscopic fundoplication. Two clinical cases were presented where Polyester mesh, fixed with tackers, was placed in a C shaped disposition with the opening facing the anterior and the overlap in front of the esophagus. CONCLUSION: The use of prosthetic material in the repair of the defect of Giant Hiatal Hernia is a reasonable alternative.