Hernioplastias inguinales transabdominal Preperitoneal: análisis de una serie de casos / Transabdominal inguinal hernioplasties Preperitoneal: analysis of a series of cases

La hernia inguinal tiene una incidencia entre 6,3 y 23,5 hernias por 10.000 habitantes, siendo uno de los procedimientos más comunes en cirugía, con más de 20 millones de reparaciones globales por año. Una de las técnicas de abordaje por videolaparoscopía es la vía transabdominal preperitoneal (TAPP). OBJETIVOS: Describir la experiencia en una serie de casos de cirugía de hernia plastia por la vía TAPP. PACIENTES Y MÉTODO: Diseño del estudio: observacional descriptivo. Población: pacientes operados de hernioplastías inguinales por vía laparoscópica en la Clínica Universitaria Reina Fabiola, Córdoba, Argentina, durante el periodo de febrero de 2016 a febrero de 2017. RESULTADOS: Se estudiaron 47 pacientes operados; 44 (93.2 %) hombres, con un promedio de edad de 40.53 (18-65) años y de índice de masa corporal de 28.6 (24-51.2) kg/m2. Se operaron 89 hernias, 42 (89.3 %) bilaterales y 5 (10.7 %) unilaterales. Al 100 % de los pacientes se les practicó la técnica TAPP. Existieron 3 (3.33 %) recidivas. No hubo mortalidad en la serie. CONCLUSIONES: Las hernioplastías inguinales laparoscópica presentan una curva de aprendizaje rápida en cirujanos experimentados, con bajas tasas de morbilidad y recidivas. (AU)

The inguinal hernia has an incidence between 6.3 and 23.5 hernias per 10,000 inhabitants, being one of the most common procedures in surgery, with more than 20 million global repairs per year. One of the techniques of videolaparoscopy approach is the transabdominal preperitoneal (TAPP). OBJECTIVES: To describe the experience in a series of cases of hernia surgery by TAPP. PATIENTS AND METHODS: Study design: descriptive observational. Population: patients undergoing laparoscopic inguinal hernioplasty at the Clínica Universitaria Reina Fabiola, Córdoba, Argentina during the period from February 2016 to February 2017. RESULTS: 47 operated patients were studied; 44 (93.2%) men, with an average age of 40.53 (18-65) years and a body mass index of 28.6 (24-51.2) kg / m2. We operated 89 hernias, 42 (89.3%) bilateral and 5 (10.7%) unilateral. 100% of the patients underwent the TAPP technique. There were 3 (3.33%) recurrences. There was no mortality in the series. CONCLUSIONS: Laparoscopic inguinal hernioplasty has a rapid learning curve in experienced surgeons, with low morbidity and recurrence rates. (AU)

Persistent and non-persistent strains of Listeria monocytogenes: A focus on growth kinetics under different temperature, salt, and pH conditions and their sensitivity to sanitizers.

This study aimed to investigate the effect of different conditions, including temperature (37 °C, 22 °C, and 4 °C), NaCl concentrations (2.5%, 4%, and 8%), and acidity (pH = 5), on the growth response of persistent and non-persistent isolates of Listeria monocytogenes. The resistance to two common sanitizers (benzalkonium chloride and hydrogen peroxide) was also investigated. A selected group of 41 persistent and non-persistent L. monocytogenes isolates recovered from three cheese processing plants during a previous longitudinal study was assembled. Average lag time was similar for persistent and non-persistent isolates grown at 37 °C, 22 °C and 4 °C but significantly shorter (p < 0.05) for persistent isolates grown at 2.5%, 4% and 8% NaCl, and at pH 5. Average growth rates were significantly higher (p < 0.05) for persistent than for non-persistent isolates when grown at 22 °C, 2.5%, 4% and 8% NaCl, and at pH 5. These results suggest that persistent strains may be better adapted to grow under stressful conditions frequently encountered in food processing environments than non-persistent strains. No relation between persistence and resistance to the tested sanitizers was found.

Preferences for medication attributes among patients with type 2 diabetes mellitus in the UK.

AIM: To examine preferences for oral medication attributes among participants with early and advanced type 2 diabetes mellitus (T2DM) in the UK using a discrete choice experiment (DCE). METHODS: A web-based DCE was administered where participants indicated which medication they preferred from two different hypothetical oral anti-diabetic (OAD) medication profiles, each composed of differing levels of seven attributes (efficacy, hypoglycaemic events, weight change, gastrointestinal/nausea side effects, urinary tract infection and genital infection, blood pressure and cardiovascular risk) for 20 sets of pair-wise comparisons. A random effects multinomial logit regression model was used to estimate the preference weight (PW) for each of the attribute levels, and the relative importance (RI) of each attribute was calculated. Analyses were conducted for the overall sample and for medication and gender subgroups. RESULTS: The final sample included 100 participants with a mean age of 62.9 (SD 11.1) years and comparable numbers of participants of each gender (51% male, 49% female). The majority of the participants were White-British (92%). The total PW and corresponding RI were highest for four of the seven attributes: hypoglycaemic events (PW = 1.98; RI = 24.7%), weight change (PW = 1.65; RI = 20.6%), gastrointestinal/nausea side effects (PW = 1.49; RI = 18.6%) and efficacy (PW = 1.44; RI = 18.0%). The RI values differed for some attributes across gender and number of current T2DM medication subgroups. CONCLUSION: The results suggest that hypoglycaemia, weight change, gastrointestinal side effects and efficacy are of primary importance to patients in their OAD preferences in T2DM. These four attributes comprised over 80% of the RI.

Trastornos congénitos de la glucosilación. Estudio de 2 pacientes / Congenital glycosylation disorders: A study of two patients

Antecedentes: Los trastornos congénitos de la glucosilación constituyen un grupo de situaciones originadas por un defecto en la síntesis de las glucoproteínas. Sus manifestaciones pueden afectar a diversos órganos. Objetivos: Dar a conocer dos nuevos pacientes afectados de esta patología para contribuir a difundir el conocimiento de esta entidad. Métodos: Presentamos 2 pacientes con las manifestaciones clínicas, radiológicas, analíticas y genéticas compatibles con CD. Conclusiones: Los trastornos de la glucosilación constituyen un grupo de situaciones que se deben tener en cuenta en el diagnóstico de un paciente con un cuadro neurológico de origen inexplicable, en particular si asocia alteraciones hepáticas o de la coagulación(AU)

Background: Congenital glycosylation disorders (CGDs) are a group of disorders caused by a defect in glycoprotein synthesis. Clinical manifestations may affect to different organs. Aims: To describe two new patients cases with a CGD in order to make paediatricians aware of this disorder. Clinical cases: Two new cases of different age and gender are presented, showing clinical manifestations, and radiological and laboratory findings compatible with CGD. One of the cases was followed up for several years. Conclusions: Glycosylation disorders are a group of conditions to bear in mind when considering the diagnosis of a patient with neurological symptoms of unexplained origin, particularly in those cases that include a delay in psychomotor activity, low muscle tone, epilepsy, and hepatic or coagulation disorders, as well as in patients with cerebellar or olivopontocerebellar atrophy(AU)

[Congenital glycosylation disorders: a study of two patients]. / Trastornos congénitos de la glucosilación. Estudio de 2 pacientes.

BACKGROUND: Congenital glycosylation disorders (CGDs) are a group of disorders caused by a defect in glycoprotein synthesis. Clinical manifestations may affect to different organs. AIMS: To describe two new patients cases with a CGD in order to make paediatricians aware of this disorder. CLINICAL CASES: Two new cases of different age and gender are presented, showing clinical manifestations, and radiological and laboratory findings compatible with CGD. One of the cases was followed up for several years. CONCLUSIONS: Glycosylation disorders are a group of conditions to bear in mind when considering the diagnosis of a patient with neurological symptoms of unexplained origin, particularly in those cases that include a delay in psychomotor activity, low muscle tone, epilepsy, and hepatic or coagulation disorders, as well as in patients with cerebellar or olivopontocerebellar atrophy.

Coste-efectividad de la combinación dutasterida y tamsulosina en el tratamiento de la hiperplasia benigna de próstata en España / Cost-Effectiveness of the Combination Therapy of Dutasteride and Tamsulosin in the Treatment of Benign Prostatic Hyperlasia in Spain

Objetivos: evaluar el coste-efectividad incremental (CEI) de la combinación dutasterida y tamsulosina (DUT+TAM) de inicio frente al tratamiento más utilizado, tamsulosina (TAM), en pacientes con hiperplasia benigna de próstata (HBP) moderada-grave con riesgo de progresión. Material y métodos: se diseñó un modelo semi-Markov con un horizonte temporal a 4 y a 35 años desde la perspectiva del Sistema Nacional de Salud español a partir del estudio CombAT. La efectividad de los tratamientos se midió en años de vida ajustados por calidad (AVAC). El uso de recursos sanitarios se obtuvo de un panel de expertos. Los costes unitarios proceden de tarifas publicadas por las Comunidades Autónomas. El coste del tratamiento farmacológico se expresa en PVP-IVA; en el caso de TAM se utilizó el precio del genérico y en el de DUT+TAM el de la combinación a dosis fija. Todos los costes se expresan en euros de 2010. Resultados: DUT+TAM produce una mejoría incremental respecto a TAM de 0,06 AVAC a los 4 años y de 0,4 AVAC a los 35 años. El coste incremental de DUT+TAM es de 810,53 € a los 4 años y 3.443,62 € a los 35 años. Por tanto, El CEI de TAM+DUT respecto a TAM es 14.023,32 €/ AVAC y 8.750,15 €/ AVAC a los 4 y 35 años respectivamente. Conclusiones: el tratamiento de inicio con la combinación DUT+TAM es un tratamiento coste-efectivo frente TAM, el tratamiento más habitual en la práctica clínica española, al encontrase el ratio CEI por debajo del umbral que usualmente se considera para clasificar las tecnologías como coste-efectivas (AU)

Objectives: to evaluate the incremental cost-effectiveness ratio (ICER) of the combination therapy with dutasteride and tamsulosin (DUT+TAM) as initiation treatment versus the most used drug in Spain, tamsulosin (TAM), in the treatment of moderate to severe benign prostatic hyperplasia (BPH) with risk of progression. Methods: a semi-Markov model was developed using 4-year and 35-year time horizons and from the Spanish National Healthcare Service perspective. Data were obtained from the CombAT trial. Effectiveness was measured in terms of quality adjusted life years (QALYs). Health care resources were defined by an experts’ panel, and unitary costs were obtained from published Spanish sources. Pharmacologic cost is expressed in PTPWAT; in the case of TAM, the generic price is used, in the case of DUT+TAM the price of a fixed dose combination is used. Costs are expressed in 2010 Euros. Results: combination therapy with DUT+TAM produces an incremental effectiveness of 0.06QALY at year 4 and 0.4QALY at year 35. DUT+TAM represents an incremental cost of € 810.53 at 4 years and € 3,443.62 at 35 years. Therefore, the ICER for DUT+TAM versus TAM is € 14,023.32/QALY at year 4 and € 8,750.15/QALY at year 35. Conclusions: initiation treatment with DUT+TAM represents a cost-effective treatment versus TAM, the most used treatment in Spain, due to the fact the ICER is below the threshold that usually allows a technology to be considered as cost-effective (AU)

[Cost-effectiveness of the combination therapy of dutasteride and tamsulosin in the treatment of benign prostatic hyperlasia in Spain]. / Coste-efectividad de la combinación dutasterida y tamsulosina en el tratamiento de la hiperplasia benigna de próstata en España.

OBJECTIVES: to evaluate the incremental cost-effectiveness ratio (ICER) of the combination therapy with dutasteride and tamsulosin (DUT+TAM) as initiation treatment versus the most used drug in Spain, tamsulosin (TAM), in the treatment of moderate to severe benign prostatic hyperplasia (BPH) with risk of progression. METHODS: a semi-Markov model was developed using 4-year and 35-year time horizons and from the Spanish National Healthcare Service perspective. Data were obtained from the CombAT trial. Effectiveness was measured in terms of quality adjusted life years (QALYs). Health care resources were defined by an experts' panel, and unitary costs were obtained from published Spanish sources. Pharmacologic cost is expressed in PTP(WAT); in the case of TAM, the generic price is used, in the case of DUT+TAM the price of a fixed dose combination is used. Costs are expressed in 2010 Euros. RESULTS: combination therapy with DUT+TAM produces an incremental effectiveness of 0.06QALY at year 4 and 0.4QALY at year 35. DUT+TAM represents an incremental cost of € 810.53 at 4 years and € 3,443.62 at 35 years. Therefore, the ICER for DUT+TAM versus TAM is € 14,023.32/QALY at year 4 and € 8,750.15/QALY at year 35. CONCLUSIONS: initiation treatment with DUT+TAM represents a cost-effective treatment versus TAM, the most used treatment in Spain, due to the fact the ICER is below the threshold that usually allows a technology to be considered as cost-effective.

Trastornos congénitos de la glicosilación de las proteínas. Patogenia y aspectos clínicos / Congenital disorders of glycosylation of proteins. Pathogeny and clinical features

Objetivo. Este trabajo se propone actualizar los conocimientos a cerca de los trastornos congénitos de la glicosilación de las proteínas (CDG), en los aspectos referentes a lapatogenia y manifestaciones clínicas. Desarrollo. Realizamos una revisión de la literatura considerando la evolución histórica de estas enfermedades, las bases bioquímicas y genéticas que permiten una clasificación, así como las manifestaciones clínicas; se hace especial hincapié en la descripción de la variante CDG Ia, la forma más frecuente, de la que se describen las tres etapas evolutivas: infantil multisistémica, infantil tardía y del adulto; deforma más breve se comentan las características de las variantes CDG Ib y CDG Ic. Conclusiones. Los CDG constituyen una patología emergente que dada su heterogeneidad clínica debe sospecharse en todo paciente con un cuadro neurológico inexplicable, en particular si junto a retraso psicomotor, hipotonía y epilepsia, asocia alteraciones hepáticas o de la coagulación, así como en casos de hipoplasia cerebelosa u olivo pontocerebelosa de aparición en el período neonatal (AU)

Objective. This work aims to provide an up-date on the knowledge regarding congenital disorders of glycosylation(CDG) of proteins in aspects on pathogeny and clinical manifestations. Development. We performed a review of the literature, considering the historical course of these diseases, biochemical and genetic bases that permit their classification and the clinical manifestations. Special emphasis is placed on the description of the CDG Ia variant, the most frequent form, describing the three evolutive states: infantile multisystemlate-infantile and adult. Briefly, we comment on the characteristics of the CDG Ib and CDG Ic variants. Conclusions. CDG is an emerging disease that, given its clinical heterogeneity, should be suspected in all patients with an unexplainable neurological picture, especially if it is accompanied by psychomotor retardation, hypotony andepilepsy, if it associates hepatic alterations of coagulation disorders and in cases of cerebellar hypoplasia or pontocerebellar and olive hypoplasia appearing in the neonatal period (AU)

Diagnóstico y tratamiento de los trastornos congénitos de laglicosilación de las proteínas / Diagnosis and treatment of congenital disorders of glycosylation of proteins

Objetivo. Se realiza una revisión actualizada de los procedimientos diagnósticos y del tratamiento de los trastornos congénitos de la glicosilación de las proteínas. Desarrollo. Con la revisión de la literatura referente a estas enfermedades, se detallan los datos clínicos que permiten realizar una sospecha fundada, destacando los hallazgos de laboratorio, tanto los referentes a las isoformas de la transferrina (se encuentra un aumento de la disialotransferrina y de la asialotransferrina y un descenso de la tetrasialotransferrina), los enzimáticos específicos -deficiencia de fosfomanonomutasa-, así como las pruebas hepáticas (elevación de transaminasas) y de coagulación (descenso de los factores) y los aspectos radiológicos (atrofia del cerebelo y del tronco cerebral, con normalidad de estructuras supratentoriales). Además, se refieren las situaciones clínicas con las que hay que realizar un diagnóstico diferencial y se comentan los aspectos terapéuticos, destacando que sólo dos trastornos: CDG-Ib (manosa oral) y CDG IIc (mucosa) tienen un tratamiento etiopatogénico eficaz. Conclusiones. En los pacientes con sospecha clínica de esta patología, la determinación de la transferrina es el primer paso para su diagnóstico, completándose con la demostración de la deficiencia enzimática, para confirmar mediante el análisis de las mutaciones del gen PMM2. En la actualidad no se dispone de un tratamiento para la forma CDGIa, la variante más frecuente (AU)

Objective. An up-dated review is made of the diagnostic procedures and treatment of congenital disorders of glycosylation of proteins. Development. With the review of the literature regarding these diseases, details are given of the clinical data that make it possible to perform a well-founded suspicion, stressing the laboratory findings, both those regarding the transferrin isoforms (an increase is found in the disialotransferrin and asialotransferrin and decrease of the tetrasialotransferrin), specific enzymes - deficiency of the enzyme phosphomano mutase and hepatic (transaminase elevation) and coagulation (decrease of the factors) tests and radiological features (cerebellum and brain stem atrophy with normality of supratentorial structures). Furthermore, the clinical situations needed to make a differential diagnosisare mentioned and the therapeutic aspects are discussed, it standing out that only two disorders: CDG-Ib (oral mannose) and CDG IIc (mucose) have an effective etiopathogenic treatment. Conclusions. In patients with clinical suspicion of this condition, determination of transferrin is the first step for its diagnosis, completing it with the demonstration of the enzyme deficiency, to confirm the mutations of the PMM2 gene through the analysis. Currently, there is no treatment available for the CDG-Ia form, this being the most frequent variant (AU)

Alteraciones en el metabolismo mineral óseo en pacientes con urolitiasis de repetición y polimorfismos del gen del receptor de la vitamina D. Resultados preliminares / Alterations in bone mineral metabolism in patients with calcium kidney stone disease and polymorphism of vitamin D receptor, preliminary results

Existe controversia sobre la afectación ósea en la litiasis renal cálcica. Por otro lado, algunos estudios genéticos han encontrado asociación entre los polimorfismos del receptor de la vitamina D (VDR) y la urolitiasis.Objetivo principal: Relacionar la nefrolitiasis cálcica de repetición con el metabolismo óseo y los polimorfismos del gen del VDR. Material y métodos: Estudio de casos y controles, estando el grupo de casos formado por 51 pacientes con litiasis renal de repetición, que subdividimos enno hipercalciúricos (NHC, n = 27), hipercalciúricos absortivos (HCA, n = 10) e hipercalciúricosrenales (HCR, n = 14); el grupo control, formado por 21 sujetos sin historia de litiasis renal ni hipercalciuria. Se les determinaron parámetros del metabolismo fosfo-cálcico, marcadores de remodelado óseo, densidad mineral ósea (DMO) en columna lumbar y en cuello femoral, y polimorfismos del gen del VDRpara los loci b, a y t. Resultados: Los pacientes litiásicos presentaron frente a los controles una DMO inferior tanto en L2-L4 como en cuello femoral (Z-score, p = 0,045 y 0,031), niveles superiores de 1,25 (OH)2 vitamina D (p = 0,002) e inferiores de PTH (p = 0,049), y una menor ingesta cálcica (p < 0,001). Los HCA mostraron una mayor DMO frente a los NHC (sólo significativo en cuello femoral). Los pacientes con LRC no mostraron diferencias en las frecuencias genotípicas estudiadas frente a los controles. Al reagrupar los alelos, sólo se apreció una menor frecuencia del genotipo BB respecto al Bb-bb, y del tt frente al TT-Tt, en los pacientes litiásicos (p =0,098 y p = 0,051, respectivamente). Conclusiones: La litiasis renal cálcica pareceinfluir en la DMO de cuello femoral. Los pacientes litiásicos mostraron niveles elevados de 1,25 (OH)2 vitamina D, posiblemente relacionado con la baja dieta cálcica. Los genotipos homocigóticos BB y tt parecen ser menos frecuentes entre los pacientes con litiasis renal cálcica

Bone health, within calcium kidney stone disease is a matter of controversy. On the other hand, some genetic studies have shown an association between some Vitamin Dreceptor polymorphisms and calcium kidney stone disease. Main objective: To study the possible association between calcium kidney stone disease with bone metabolismand some Vitamin D receptor polymorphisms. Patients and methods: This is a casecontrol study, with seventy-two subjects of both genders divided into two groups: Group I: cases, composed by 51 patients suffering from calcium kidney stone disease. Twenty-four of them had no hypercalciuria, 16 had absortive hypercalciuria and 11 had renal hypercalciuria. Group II: controls, composed by 21 people, without either urolithiasis or hypercalciuria. We performed a complete study including biochemical markers of bone mineral remodelling, bone mineral density (BMD) was estimatedboth in the lumbar spine (L2-L4) and femoral neck, and also VDR polymorphism for the loci b, a and t. Results: Patients with urolithiasis had lower values of BMD both in the lumbar spine and femoral neck, compared to controls. Z-score were lower in the lumbar spine and femoral neck (p = 0.045 y 0.031, respectively). Those patients with absorptive hypercalciuria had higher BMD in the femoral neck than those with renal hypercalciuria and non-hypercalciuria. Because they had more weight and height all the statistical study was performed alter adjusting by these two variables and statisticalsignificance was then only stated between patients with hypercalciuria and without it. Patients with urolithiasis had higher values of 1.25 (OH)2 vitamin D (p = 0.002), and lower of PTH (p = 0.049), without any relationship to hypercalciuria and its subtypes.Seventy six percent of the patients had a daily calcium intake lower than 800 mg/day. The distribution of VDR alleles in patients with urolithiasis was similar to controls, although after grouping genotypes, a lower distribution of BB and tt polymorphisms wereobserved in patients suffering from urolithiasis. Conclusions: Calcium kidney stone diseaseby itself produces a decrease in BMD, more intense in femoral neck, independently the presence or absence of hypercalciuria. Patients suffering from urolitihiasishave higher values of 1.25 (OH)2 vitamin D than non-hypercalciuric patients and lower values of PTH probably due to a low dietary calcium intake. In our populationstudied there is no relationship between VDR polymorphisms and the presence of calcium kidney stone disease. Because the reduced number of patients of our study,more studies are needed to obtain definitely conclusions

[Alterations in bone mineral metabolism in patients with calcium kidney stone disease and polymorphism of vitamin D receptor. Preliminary results]. / Alteraciones en el metabolismo mineral óseo en pacientes con urolitiasis de repetición y polimorfismos del gen del receptor de la vitamina D. Resultados preliminares.

UNLABELLED: Bone health, within calcium kidney stone disease is a matter of controversy. On the other hand, some genetic studies have shown an association between some Vitamin D receptor polymorphisms and calcium kidney stone disease. MAIN OBJECTIVE: To study the possible association between calcium kidney stone disease with bone metabolism and some Vitamin D receptor polymorphisms. PATIENTS AND METHODS: This is a case-control study, with seventy-two subjects of both genders divided into two groups: Group I: cases, composed by 51 patients suffering from calcium kidney stone disease. Twenty-four of them had no hypercalciuria, 16 had absortive hypercalciuria and 11 had renal hypercalciuria. Group II: controls, composed by 21 people, without either urolithiasis or hypercalciuria. We performed a complete study including biochemical markers of bone mineral remodelling, bone mineral density (BMD) was estimated both in the lumbar spine (L2-L4) and femoral neck, and also VDR polymorphism for the loci b, a and t. RESULTS: Patients with urolithiasis had lower values of BMD both in the lumbar spine and femoral neck, compared to controls. Z-score were lower in the lumbar spine and femoral neck (p =0,045 y 0,031, respectively). Those patients with absorptive hypercalciuria had higher BMD in the femoral neck than those with renal hypercalciuria and non-hypercalciuria. Because they had more weight and height all the statistical study was performed alter adjusting by these two variables and statistical significance was then only stated between patients with hypercalciuria and without it. Patients with urolithiasis had higher values of 1,25 (OH)2 vitamin D (p=0,002), and lower of PTH (p=0,049), without any relationship to hypercalciuria and its subtypes. Seventy six percent of the patients had a daily calcium intake lower than 800 mg/day. The distribution of VDR alleles in patients with urolithiasis was similar to controls, although after grouping genotypes, a lower distribution of BB and tt polymorphisms were observed in patients suffering from urolithiasis. CONCLUSIONS: Calcium kidney stone disease by itself produces a decrease in BMD, more intense in femoral neck, independently the presence or absence of hypercalciuria. Patients suffering from urolitihiasis have higher values of 1,25 (OH)2 vitamin D than non-hypercalciuric patients and lower values of PTH probably due to a low dietary calcium intake. In our population studied there is no relationship between VDR polymorphisms and the presence of calcium kidney stone disease. Because the reduced number of patients of our study, more studies are needed to obtain definitely conclusions.

[Unilateral facial and cerebral hyperplasia associated with neurofibromatosis type 1. Report of four patients]. / Hiperplasia facial y cerebral unilateral asociada a neurofibromatosis tipo 1. Presentacion de cuatro pacientes.

INTRODUCTION: Plexiform neurofibroma in any location is one of the commonest complications associated with neurofibromatosis type 1 (NF1). Plexiform neurofibroma of the upper eyelid and orbit is usually associated with ipsilateral hemifacial hyperplasia. We present four patients with NF1 and plexiform neurofibroma of the eyelid and orbit associated with hemifacial hyperplasia, who also showed hyperplasia of the unilateral cerebral hemisphere. CASE REPORTS: There are four patients, three females and one male, who consulted because of NF1 with plexiform neurofibroma of upper eyelid and hemifacial hyperplasia. Upper eyelid involvement was observed since birth and progressed during the first years of life. The patients showed normal neurological and mental development without motor or cerebellar disorders. Magnetic resonance studies demonstrated the asymmetric hyperplasia of the ipsilateral hemisphere in all four cases and of the cerebellar hemisphere in one case. The degree of hemispheric hyperplasia was related to the size and extension of the plexiform neurofibroma, as well as to the severity of the hemifacial hyperplasia. In our case which had the plexiform neurofibroma extended to the neck and the upper thorax, the hyperplasia not only affected the cerebral hemisphere but also the ipsilateral cerebellar hemisphere. All parts of the hemisphere showed increased size. The cortex of the entire hemisphere showed normal differentiation of the subcortical white matter. CONCLUSION: NF1 appears to be related with facial and cerebral ipsilateral hemihyperplasia. The relation between the size and extension of the orbital, eyelid and facial plexiform neurofibroma and the degree of asymmetry of the hemispheric hyperplasia suggest that different influences of a still unknown agent, possibly a gene, obviously related to NF1, causes both the intracranial and extracranial abnormalities.

Hiperplasia facial y cerebral unilateral asociada a neurofibromatosis tipo 1. Presentación de cuatro pacientes / Unilateral facial and cerebral hyperplasia associated with neurofibromatosis type 1. Report of four patients

Introducción. Una de las complicaciones más frecuentesasociadas a la neurofibromatosis tipo 1 (NF1) es el neurofibromaplexiforme en cualquier localización. El neurofibroma plexiformedel párpado superior de la órbita va usualmente asociado a hiperplasiahemifacial ipsilateral. Presentamos a cuatro pacientes conNF1 y neurofibroma plexiforme del párpado y de la órbita asociadocon hiperplasia hemifacial, que también mostraban hiperplasiadel hemisferio cerebral unilateral. Casos clínicos. Cuatro pacientes,tres mujeres y un varón, consultaron por un neurofibroma plexiformedel párpado superior y de la órbita, presente desde el nacimientoy que progresaba durante los primeros años de vida. Lospacientes también mostraban hiperplasia hemifacial ipsilateral ydesarrollo mental normal sin alteraciones motrices ni cerebelosas.En uno de los pacientes, el neurofibroma plexiforme se extendía,además, por toda la hemifacies, partes anterior del cuello y anteriory superior del tórax. La resonancia magnética demostró asimetríahemisférica con hiperplasia del hemisferio ipsilateral en loscuatro casos y también del hemisferio cerebeloso en el caso en elque el neurofibroma plexiforme se extendía por toda la cara, elcuello y el tórax. Todas las partes del hemisferio cerebral mostrabanun aumento de tamaño. La corteza de todo el hemisferio hiperplásicoevidenciaba una diferenciación normal de la sustanciablanca subcortical. Conclusión. Parece indudable la relación entrela NF1 y la hemihiperplasia facial y cerebral. La relación entre eltamaño y extensión del neurofibroma plexiforme del párpado superior,órbita y hemifacies y el grado de asimetría de la hiperplasiahemisférica sugiere la existencia de influencias diversas de algúnagente todavía desconocido –posiblemente un gen, obviamente relacionadocon la NF1– que cause las anormalidades intracranealesy extracraneales

Introduction. Plexiform neurofibroma in any location is one of the commonest complications associated with neurofibromatosistype 1 (NF1). Plexiform neurofibroma of the upper eyelid and orbit is usually associated with ipsilateral hemifacialhyperplasia. We present four patients with NF1 and plexiform neurofibroma of the eyelid and orbit associated withhemifacial hyperplasia, who also showed hyperplasia of the unilateral cerebral hemisphere. Case reports. There are fourpatients, three females and one male, who consulted because of NF1 with plexiform neurofibroma of upper eyelid andhemifacial hyperplasia. Upper eyelid involvement was observed since birth and progressed during the first years of life. Thepatients showed normal neurological and mental development without motor or cerebellar disorders. Magnetic resonancestudies demonstrated the asymmetric hyperplasia of the ipsilateral hemisphere in all four cases and of the cerebellarhemisphere in one case. The degree of hemispheric hyperplasia was related to the size and extension of the plexiformneurofibroma, as well as to the severity of the hemifacial hyperplasia. In our case which had the plexiform neurofibromaextended to the neck and the upper thorax, the hyperplasia not only affected the cerebral hemisphere but also the ipsilateralcerebellar hemisphere. All parts of the hemisphere showed increased size. The cortex of the entire hemisphere showed normaldifferentiation of the subcortical white matter. Conclusion. NF1 appears to be related with facial and cerebral ipsilateralhemihyperplasia. The relation between the size and extension of the orbital, eyelid and facial plexiform neurofibroma and thedegree of asymmetry of the hemispheric hyperplasia suggest that different influences of a still unknown agent, possibly a gene,obviously related to NF1, causes both the intracranial and extracranial abnormalities

[Autosomal recessive diseases with mental retardation]. / Enfermedades autosómicas recesivas con retraso mental.

INTRODUCTION: Autosomal recessive diseases with mental retardation are disorders that affect autosomes, and their genetic expression occurs in individuals who are homozygotic for a mutation, while heterozygotic subjects are unaffected carriers. If both parents are carriers, the theoretical possibility of their children also being carriers is 50%, the risk of the children being affected by the disease is 25%, and there is a 25% chance of their being healthy. They are an important source of mental deficiencies and inborn errors of metabolism (IEM) are some of their characteristic syndromes. DEVELOPMENT: The genetic disorders known as IEM can be classified according to the metabolism they affect, that is, purines, pyrimidines, amino acids, and so on. One of the lysosomal disorders is Tay-Sachs disease, which is rare among the general population but is very frequent in populations with a high rate of consanguinity, such as the Ashkenazi Jews. One of the most notable disorders affecting the metabolism of amino acids is the case of phenylketonuria due to mutations in the phenylalanine hydroxylase gene (PAH). It accounts for 0.5-1% of mental diseases and appears with a frequency rate of between 1/11,500 and 1/14,000 in newborn infants. Its early diagnosis through neonatal screening programmes makes it possible to start administering a phenylalanine-free diet and thus prevent mental retardation. CONCLUSIONS: Knowledge of this kind of autosomal diseases with neurological involvement, together with their correct and early diagnosis, makes it possible to establish suitable treatment regimens in some cases and to carry out genetic counselling in all of them.