Maxillofacial Injuries in Padel Game.

Background: Maxillofacial injuries are very frequent in the sports environment. Padel is a new sport of Mexican origin, very popular in Mexico, Spain, and Italy, but with a rapid spread in Europe and other continents. Aims: The aim of this article is to report our experience of 16 patients with maxillofacial injuries that occurred during padel matches in 2021. All these injuries occurred due to the racket bouncing against the glass of the padel court. The bounce of the racquet is given either because the player was trying to hit the ball near the glass or by throwing the racket against the glass for an act of nervousness. Methods: We carried out a literature review about sports traumas, and we calculated the possible force with which the racket, once bounced off the glass, hits the players' faces. Results and Conclusions: The racket, bouncing off the glass wall, arrives with a specific force in the face of the player who threw the racket, being able to cause skin wounds, injuries, and fractures mainly at the level of the dentoalveolar junction.

Hospital workers mental health during the COVID-19 pandemic: methods of data collection and characteristics of study sample in a university hospital in Milan (Italy).

BACKGROUND: The COVID-19 pandemic is currently a severe challenge for healthcare workers, with a considerable impact on their mental health. In order to focus preventive and rehabilitation measures it's fundamental to identify risk factors of such psychological impairment. We designed an observational longitudinal study to systematically examine the psychological wellbeing of all employees in a large University Hospital in Italy, using validated psychometric scales in the context of the occupational physician's health surveillance, in collaboration with Psychiatric Unit. METHODS: The study started after ethical approval in August 2020. For each worker, the psychological wellbeing is screened in two steps. The first level questionnaire collects sociodemographic characteristics, personal and occupational COVID-19 exposure, worries and concerns about COVID-19, general psychological discomfort (GHQ-12), post-traumatic stress symptoms (IES-R) and anxiety (GAD-7). Workers who score above the cut-off in at least one scale are further investigated by the second level questionnaire composed by PHQ-9, DES-II and SCL-90. If second level shows psychological impairments, we offer individual specialist treatment (third level). We plan to follow-up all subjects to monitor symptoms and possible chronicization; we aim to investigate potential risk factors through univariate analysis and multivariate logistic regressions. RESULTS: Preliminary results refer to a sample of 550 workers who completed the multi-step evaluation from August to December 2020, before vaccination campaign started. The participation rate was 90%. At first level screening, 39% of the subjects expressed general psychological discomfort (GHQ-12), 22% post-traumatic stress symptoms (IES-R), and 21% symptoms of anxiety (GAD-7). Women, nurses, younger workers, subjects with COVID-19 working exposure and with an infected family member showed significantly higher psychological impairment compared to colleagues. After the second level screening, 12% and 7% of all workers showed, respectively, depressive and dissociative symptoms; scorings were significantly associated with gender and occupational role. We are currently extending sample size and evaluating subjects over a period of further 12 months. CONCLUSIONS: The possibility to perform a systematic follow-up of psychological wellbeing of all hospital workers, directly or indirectly exposed to pandemic consequences, constitutes a unique condition to detect individual, occupational, and non-occupational risk factors for psychological impairment in situations of prolonged stress, as well as variables associated with symptoms chronicization.

Analysis of a CT patient dose database with an unsupervised clustering approach.

PURPOSE: This study investigated the benefits of implementing a cluster analysis technique to extract relevant information from a computed tomography (CT) dose registry archive. METHODS: A CT patient dose database consisting of about 12,000 examinations and 29,000 single scans collected from three CT systems was interrogated. The database was divided into six subsets according to the equipment and the reference phantoms in the definition of the dose indicators. Hierarchical (single, average, and complete linkage, Ward) and not hierarchical (K-means) clustering methods were implemented using R software. The suitable number of clusters for each CT system was determined by analysing the dendrogram, the within clusters sum of squares, and the cluster content. Summary statistics were produced for each cluster, and the outliers of the dose indicator distribution were investigated. RESULTS: Ward clustering identified the most common combinations of scanning parameters for each group. The optimal number of clusters for each CT equipment system ranged from 5 to 15. The main diagnostic applications were then extracted from each cluster. Outlier analysis of the dose indicator distribution of each cluster revealed potential improper settings that resulted in increased patient dose. CONCLUSIONS: Clustering methods applied to CT patient dose archives provide a quick and effective overview of the main combinations of currently used exposure parameters and the consequences for dose indicator distributions, also when protocol labels and/or study descriptions are not homogeneous.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

PURPOSE: Developmental and epileptic encephalopathies (DEEs) are severe clinical conditions characterized by stagnation or decline of cognitive and behavioral abilities preceded, accompanied or followed by seizures. Because DEEs are clinically and genetically heterogeneous, next-generation sequencing, especially exome sequencing (ES), is becoming a first-tier strategy to identify the molecular etiologies of these disorders. METHODS: We combined ES analysis and international data sharing. RESULTS: We identified 11 unrelated individuals with DEE and de novo heterozygous truncating variants in the interferon regulatory factor 2-binding protein-like gene (IRF2BPL). The 11 individuals allowed for delineation of a consistent neurodevelopmental disorder characterized by mostly normal initial psychomotor development followed by severe global neurological regression and epilepsy with nonspecific electroencephalogram (EEG) abnormalities and variable central nervous system (CNS) anomalies. IRF2BPL, also known as enhanced at puberty protein 1 (EAP1), encodes a transcriptional regulator containing a C-terminal RING-finger domain common to E3 ubiquitin ligases. This domain is required for its repressive and transactivating transcriptional properties. The variants identified are expected to encode a protein lacking the C-terminal RING-finger domain. CONCLUSIONS: These data support the causative role of truncating IRF2BPL variants in pediatric neurodegeneration and expand the spectrum of transcriptional regulators identified as molecular factors implicated in genetic developmental and epileptic encephalopathies.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies. All patients presented with intellectual disability and severe language impairment. Hypotonia, ataxia, and recognizable facial gestalt were frequent findings, but not congenital heart defects. We identified seven de novo missense variations, in addition to protein-truncating variants and intragenic deletions. Missense variants clustered in two mutation hot-spots, i.e., exons 15-17 and 25-31. We found that patients carrying missense mutations had more frequently epilepsy and showed a more severe phenotype. This study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition.

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 families and mosaicism in one family. Clinically, we observed a broad phenotypic spectrum with regard to ID (mild to severe), the facies (typical or not of WSS) and associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Hypertrichosis cubiti that was supposed to be pathognomonic in the literature was found only in 61% of our cases. This is the largest series of WSS cases yet described to date. A majority of patients exhibited suggestive features, but others were less characteristic, only identified by molecular diagnosis. The prevalence of WSS was higher than expected in patients with ID, suggesting than KMT2A is a major gene in ID.

Inter-sexual habitat and isotopic niche segregation of the endangered Monteiro's storm-petrel during breeding.

At-sea distribution and trophic ecology of small seabird species (i.e.<100 g) is far less known when compared to their larger relatives. We studied the habitat use (spatial ecology) and isotopic niches (trophic ecology) of the endangered Monteiro's storm-petrel Hydrobates monteiroi during the incubation and chick-rearing periods of 2013. There was a sexual foraging segregation of Monteiro's storm-petrels during the breeding period (tracking data) but also during the non-breeding stage (stable isotope analysis). Females took advantage of their longer wings to forage over the shallower Mid-Atlantic ridge (MAR) north of Azores, under colder and windier regimes when compared to males, who mostly exploited northern deep waters comparatively closer to the breeding colony. Between-sex differences in the spatial distribution were more obvious during the incubation period, with the overlap in their distribution increasing during the chick-rearing phase. There was also an isotopic segregation between sexes both during the previous breeding and the non-breeding stages, with females exhibiting a narrower, lower level isotopic niche when compared to males. Though the distribution patterns reported here should be useful for the at-sea conservation of this endangered species, future research should focus on (1) performing year-round tracking to map the species' distribution during the non-breeding period and (2) gathering multi-year tracking information to understand the effect of inter-annual environmental stochasticity on the foraging choices and trophic habits of the species.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Although whole-exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers. Commercialized panels comprising all OMIM-referenced genes called "medical exome" (ME) constitute an alternative strategy to WES, but its efficiency is poorly known. In this study, we report the experience of 2 clinical genetic centers using ME for diagnosis of NDDs. We recruited 216 consecutive index patients with NDDs in 2 French genetic centers, corresponded to the daily practice of the units and included non-syndromic intellectual disability (NSID, n = 33), syndromic ID (NSID = 122), pediatric neurodegenerative disorders (n = 7) and autism spectrum disorder (ASD, n = 54). We sequenced samples from probands and their parents (when available) with the Illumina TruSight One sequencing kit. We found pathogenic or likely pathogenic variants in 56 index patients, for a global diagnostic yield of 25.9%. The diagnosis yield was higher in patients with ID as the main diagnosis (32%) than in patients with ASD (3.7%). Our results suggest that the use of ME is a valuable strategy for patients with ID when WES cannot be used as a routine diagnosis tool.

Cuidados paliativos para una muerte digna. Estudio de un caso / Palliative care for a dignified death. A case study

Introducción: En el siguiente trabajo se presenta la experiencia de un estudiante de enfermería en la ejecución de un plan de intervenciones, enfocado en la implementación de cuidados paliativos, enfatizando algunos elementos sobre la importancia de la calidad de la atención prestada y afrontamiento del caso por parte de los estudiantes. Métodos: Se seleccionó una paciente con diagnóstico de síndrome de Patau, por el hecho de poder brindarle cuidados paliativos de calidad. Los diagnósticos de enfermería se formularon a partir del formato PES (problema, etiología, signos y síntomas). Se implementó un proceso de atención de enfermería (P.A.E.). La valoración se llevó a cabo con el formato de necesidades básicas basadas en el modelo de Virginia Henderson. Plan de intervenciones. Una vez planteados los objetivos de cuidado a alcanzar con la paciente, se desarrollaron cuidados paliativos, considerando sus alcances y limitaciones, los cuidados se enfocaron en mejorar su calidad de vida y se cubrieron sus necesidades básicas, sin caer en el encarnizamiento. Conclusiones: La calidad con la que se brinden los cuidados paliativos determinará la calidad de vida de nuestros pacientes; así como la forma oportuna en la aplicación de las intervenciones de enfermería. Recordando siempre que todas las personas tienen derecho a una asistencia de calidad científica y humana, por lo que recibir una adecuada atención al final de la vida no debe ser considerado un privilegio sino un auténtico derecho.

Introduction: This study shows the experience of a nursing student while performing an intervention plan focused on palliative care, highlighting some issues related to the importance of quality-care and case addressing. Method: A patient diagnosed with the Patau Syndrome was selected to receive palliative quality-care. Nursing diagnoses were based on the PES format (problem, etiology, signs and symptoms). A nursing attention process (PAE) was implemented. The assessment was based on the basic needs format of the Virginia Henderson model. Intervention plan: Once the patient care objectives were established, palliative care was provided with the focus on improving the patient´s quality of life. The patient´s basic needs were adequately satisfied. Conclusions: The palliative care-quality will determine our patient´s quality of life, as it the consequence of the timely nursing interventions. All people have the right to a human and scientific care, and therefore, receiving an end of life attention should not be considered a privilege but an authentic right.

Bioengineering in the oral cavity: our experience.

BACKGROUND: To date, there are no studies reported in the literature on the possible use of bovine collagen, oxidized regenerated cellulose, or synthetic hyaluronic acid medications in the oral cavity. The aim of this paper is to report the use of bovine collagen, oxidized regenerated cellulose, and synthetic hyaluronic acid medications to improve wound healing in the oral cavity by stimulating granulomatous tissue. METHODS: From 2007 to 2011, 80 patients (median age 67 years) suffering from oral mucosal lesions participated in this double-blind study. The patients were divided into two groups, each consisting of 40 patients. One group received conventional medications, while the other group of patients were treated with the advanced medications. RESULTS: Advanced medications allowed re-epithelialization of the wound margin in 2-20 days, whereas patients receiving conventional medication showed a median healing duration of 45 days. CONCLUSION: The results of this study demonstrate that treating oral mucosal wounds with advanced medication has an advantage with regard to wound healing time, allowing patients to have a rapid, functional, and esthetic recovery.

[p53 expression in the gastric mucosa of patients infected with Helicobacter pylori]. / p53 expresado en la mucosa gástrica de pacientes infectados por Helicobacter pylori.

BACKGROUND: Helicobacter pylori (Hp) is recognized as a type 1 carcinogen for gastric cancer associated with pre-neoplastic lesions (atrophy and intestinal metaplasia [IM]). Its relation with p53, which intervenes in the cell cycle, has had contradictory results. AIMS: To analyze p53 expression in gastric mucosa and its relation with Hp infection. METHODS: A 3-month prospective, observational, cross-sectional study was conducted. Patients that had no evidence of acute or clinically significant gastric pathology had biopsies taken according to the Sydney system at the Hospital Juárez de México and the histopathologic studies were done at the Hospital Español de México. RESULTS: Hp prevalence was 32.7% in 104 patients. There were no cases of atrophy or dysplasia. A total of 91% of the infected patients were positive for p53. Of the non-infected patients, 14% were positive for p53 and 60% of them had IM. Of the IM patients, 75% presented with positive p53. Of the patients without IM, 31 presented with positive p53, and Hp was positive in 85% of them. There was association between Hp and p53 and between p53 and IM (P<.0001 and P<.0006, respectively). CONCLUSIONS: Significant association was shown between Hp and p53 expression, even in patients with pre-neoplastic lesions that no longer presented with Hp. Given that the identification of pre-neoplastic lesions is important for the prevention of cancer, immunohistochemistry could benefit routine biopsy carried out during endoscopy for the detection of Hp, by identifying patients with expression of the important oncogene regulator, p53.

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

The striking excess of affected males in autism spectrum disorders (ASD) suggests that genes located on chromosome X contribute to the etiology of these disorders. To identify new X-linked genes associated with ASD, we analyzed the entire chromosome X exome by next-generation sequencing in 12 unrelated families with two affected males. Thirty-six possibly deleterious variants in 33 candidate genes were found, including PHF8 and HUWE1, previously implicated in intellectual disability (ID). A nonsense mutation in TMLHE, which encodes the ɛ-N-trimethyllysine hydroxylase catalyzing the first step of carnitine biosynthesis, was identified in two brothers with autism and ID. By screening the TMLHE coding sequence in 501 male patients with ASD, we identified two additional missense substitutions not found in controls and not reported in databases. Functional analyses confirmed that the mutations were associated with a loss-of-function and led to an increase in trimethyllysine, the precursor of carnitine biosynthesis, in the plasma of patients. This study supports the hypothesis that rare variants on the X chromosome are involved in the etiology of ASD and contribute to the sex-ratio disequilibrium.

Surfactant protein D and KL-6 serum levels in systemic sclerosis: correlation with lung and systemic involvement.

OBJECTIVE: The aim of this study was to investigate the relationship between SP-D and KL-6 serum concentrations and the extent of interstitial lung involvement, as measured by a quantitative HRCT score and the functional impairment, in patients with systemic sclerosis (SSc). Moreover we analysed the association between these lung-specific biomarkers and skin involvement, anti-Scl-70 antibody titres and an index of disease activity. METHODS: Serum SP-D, KL-6 and anti-Scl-70 concentrations were determined by ELISA in 25 SSc patients. Disease activity and lung function parameters were assessed, and the extent of ILD was measured by a HRCT score. RESULTS: SP-D and KL-6 concentrations were higher in patients with SSc and lung fibrosis than in healthy controls. KL-6 correlated positively with the HRCT-fibrosis score (r=0.68, p<0.001), SP-D showed a weaker correlation (r=0.44, p=0.025). Increased KL-6 concentrations were associated with decreased DLCO and decreased FVC in SSc patients, SP-D showed no association. Furthermore KL-6, but not SP-D, showed a strong association with skin involvement as expressed by the modified Rodnan skin score (r=0.71, p<0.0001) and a disease activity index (r=0.73, p<0.0001). CONCLUSION: KL-6 is more strongly associated than SP-D with the HRCT-fibrosis score, and, different from SP-D, it correlates with skin involvement and disease activity. We suggest that KL-6 may be a useful biomarker in the assessment of scleroderma patients.

Phenol sorption on surfactant-modified Mexican zeolitic-rich tuff in batch and continuous systems.

Surfactant modified clinoptilolite-rich tuff was used for the removal of phenol from aqueous solutions. The zeolitic rock from Oaxaca (Mexico) was treated with sodium chloride and then modified with hexadecyltrimethylammonium chloride or bencylcetildimethylammonium chloride in different experimental conditions. Phenol sorption isotherms and column experiments were performed; in both cases, phenol was determined in the aqueous solutions by UV-vis spectroscopy. The results showed that the sorption of phenol depends on the quantities of surfactant in the zeolitic rocks, the kind of surfactant, modification conditions and pH of the solutions. When the initial concentration of phenol increased, the adsorption of phenol in the surfactant-modified zeolite increased and the experimental data was best adjusted to the Langmuir model. The saturation of the columns rapidly reached high percentages.

Cognitive functioning in children with multiple sclerosis.

OBJECTIVE: To examine the cognitive functioning of children with multiple sclerosis (MS). METHODS: Six children with a diagnosis of clinically definite MS were evaluated using a neuropsychological test battery. RESULTS: The majority of the children showed deficits in at least two of the administered subtests, with IQ scores within the deficient classification. CONCLUSIONS: Verbal and non-verbal skills were equally impaired, and patients who were older at the moment of the onset of the disease had a better cognitive performance. Cognitive deficits should be regarded as a common occurrence in the course of MS in children.

Effects of preparation and experimental conditions on removal of phenol by surfactant-modified zeolites.

The removal of phenol from aqueous solutions using surfactant-modified clinoptilolite-rich tuffs (SMZ) prepared from two Mexican zeolitic tuffs (Chihuahua and Oaxaca) was investigated. Sodium homoionization of the zeolitic rocks was performed before they were modified with the surfactants: hexadecyltrimethylammonium chloride or bromide and bencylcetildimethylammonium chloride. The surfactants in the modified zeolitic materials were determined considering the total carbon in the samples. The phenol removal was determined in a batch system taking into consideration the different quantities of surfactants in the zeolitic tuffs, contact time, pH and initial phenol concentration. The phenol was determined in the aqueous solutions by UV/Vis spectroscopy. Results showed that the formation of a hemimicelle or admicelle on the zeolites depended on the initial surfactant concentration and they were responsible for the type of interactions between the phenol and the surfactant-modified zeolites. Phenol adsorption by the surfactant-modified zeolites was carried out in approximately three hours. Phenol adsorption data was best adjusted to the pseudo-second order kinetic model. Both, surface properties of the surfactant-modified zeolites and pH of solution play an important role in the removal of this pollutant from aqueous solutions and they are responsible for the type of mechanism involved.

Helicobacter pylori en lactante de 1 año / Helicobacter pylori in a one-year-old infant

Se presenta el caso de un niño que al año de vida fue diagnosticado y tratado de infección por Helicobacter pylori. Ingresó en 3 ocasiones entre los 8 y 11 meses de vida en el servicio de lactantes por rechazo a la alimentación, estreñimiento pertinaz y desnutrición de grado III. En las analíticas y pruebas realizadas se descartaron las causas más frecuentesde malabsorción intestinal a esta edad. En el último ingreso, a los 11 meses de edad, se diagnosticó gastritis crónica activa y sensibilización a alimentos, la determinación de antígeno de H.pylori en heces y mucosa gástrica fue positiva. Se instauró tratamiento con triple terapia y dieta exenta de alimentos a los que el niño había demostrado sensibilización. Asimismo, senecesitó administrar la alimentación por sonda nasogástrica dado el rechazo total oral a la misma. El paciente evolucionó de forma favorable

The authors describe the diagnosis and treatment of Helicobacter pylori infection in a one-year-old infant. He was admitted to the infant unit three times between the ages of 8 and 11 months because of his refusal to eat, persistent constipation and grade III malnutrition. The results of the analyses and tests performed ruled out the most common causes of intestinal malabsorption in a child of that age. During the last hospital stay, at the age of 11 months, he was diagnosed as having chronic active gastritis and food hypersensitivity, and the tests for H. pylori in feces and gastric mucosa were positive. He was treated with triple therapy and a diet from which the foods to which he was sensitized were eliminated. He required nasogastric feeding because of his refusal of all oral nutrition, and the outcome was favorable

Estudio confirmatorio acerca de la frecuencia y percepción de la violencia: El VIDOFyP como instrumento de evaluación y algunas reflexiones psicosociales / Confirmatory study about the frecuency and perception of the violence: The VIDOFyP like an evaluation instrument and some psychosocial reflections

Este trabajo tuvo como objetivo confirmar la utilidad, confiabilidad y validez del instrumento llamado VIDOFyP (Violencia Doméstica: Frecuencia y Percepción) (Mendoza y Trujano, 1998; en Trujano y Mendoza, 2003), para identificar qué actitudes y comportamientos perciben como violentos en una situación de pareja mujeres de diferentes edades y niveles educativos, y saber con qué frecuencia y modalidades se presentan; a partir de esta información, conocer la posible correlación entre la percepción de conductas violentas y su ocurrencia,replicando dos estudios anteriores que conforman una investigación más amplia. La muestra se integró con 200 mujeres divididas en dos Estudios. En el primero se incorporó a 50 mujeres adolescentes y a 50 jóvenes; en el segundo a 50 mujeres con nivel educativo profesional (licenciatura) y a 50 con un nivel básico (primaria). La información se obtuvo aplicando el VIDOFyP, y permitió observar la presencia de comportamientos violentos en ambos estudios. En general, las mujeres jóvenes y las de nivel profesional mostraron una mayor percepción de la violencia. La modalidad de violencia mejor percibida en ambos estudios fue la psicológica; una mayor experiencia y un grado más alto de escolaridad parecen facilitar (aunque no garantizar) una mayor percepción y una menor frecuencia de comportamientos violentos. El instrumento mostró su utilidad al observarse niveles satisfactorios de confiabilidad y validez

The current job had as objective to confirm the utility, reliability and validity of the instrumentnamed VIDOFyP (Violencia Doméstica: Frecuencia y Percepción) (Mendoza y Trujano, 1998; en Trujano y Mendoza, 2003), to identify what attitudes and behaviors are perceived like violent in a couple of women of different ages and educative level situations,and also knowing with what frequency are presented, and from this information, to know the possible relationship between the violent behavior perception and it’s happening, replying two previous studies part of a bigger investigation.The sample was formed by 200 women divided in two studies. In the first one, there were incorporated fifty teenagers women and fifty young women; and in the second one, fifty women with a high professional level (degree) and fifty with a basic level (primary school). The information was found by using the VIDOFyP, and it allowed to see the presence of violent behaviors in both studies. In general, the young women and the womenwith a professional level showed a bigger perception of violence. The violence modality better perceived in both studies was the psychological one. A high experience and a high professional level apparently provide (although no guarantee) the bigger perception and the fewer frequency of violent behavior. The instrument showed its utility by been observed satisfactory level of reliability and validity (AU)

[Characterization of neuronal ceroid lipofuscinosis in Venezuelan children]. / Caracterización de la ceroidolipofuscinosis en niños venezolanos.

INTRODUCTION: Neuronal ceroid lipofuscinosis (NCL), represents a group of inherited neurodegenerative disorders. Based on the age of the patient at onset, clinical course and ultrastructural morphology it has been identified three clinical types for the pediatric group: 1) Infantile NCL (INCL); 2) Late infantile NCL (LINCL); and 3) Juvenile NCL (JNCL). Other variants or atypical forms represent around 20% of the NCL in different populations. Genetic advances have made possible a better characterization, diagnostic and classification of these disorders. CASE REPORTS: We present the clinical, neurophysiological, neuroradiological, and morphological data from 6 patients with NCL, who were assessed at the pediatric neurology department of the Hospital Universitario de Maracaibo during a ten years period (1993 2003). All 6 cases corresponded with the late infantile form. Age of onset ranged form 2 to 5 years. For most of the patients initial symptoms included seizures, psychomotor delay, accompanied by macular degeneration and optic atrophy. The EEG was characterized by high voltage spikes elicited by low frequency photic stimulation, in 5 cases. Neuroimaging findings were characteristic of the late infantile form of the NCL. In three patients a decreased intensity of signal was seen in the thalami and putamen on T2-weighted images. The ultrastructural examination of the samples obtained through a biopsy showed curvilinear bodies in all patients. CONCLUSION: There is not epidemiological data of the NCL in Venezuela; it is presumed the presence of clinical forms and variants in the pediatric group. This first study could contribute to the knowledge and a better research of this group of disorders in our population.

Caracterización de la ceroidolipofuscinosis en niños venezolanos / Characterization of neuronal ceroid-lipofuscinosis in venezuelan children

Introducción. La ceroidolipofuscinois neuronal (CLN) representa un grupo de trastornos neurodegenerativos de origen genético. En función de la edad de comienzo, el curso clínico y la morfología ultraestructural, se reconocen tres formas clínicas en la edad pediátrica: 1) CLN infantil (INCL); 2) CLN infantil tardía (LINCL), y 3) CLN juvenil (JNCL). Otras variantes o formas atípicas representan alrededor de un 20 por ciento de las CLN en diferentes poblaciones. Los avances en genética han permitido una mejor caracterización, diagnóstico y clasificación de estos trastornos. Casos clínicos. Se presentan los datos clínicos, neurofisiológicos, neurorradiológicos y morfológicos de seis pacientes con CLN evaluados en el Servicio de Neuropediatría del Hospital Universitario de Maracaibo, durante 10 años (1993-2003). Todos los casos correspondieron a la forma infantil tardía. La edad de comienzo varió entre los 2 y los 5 años. En la mayoría de los pacientes los síntomas iniciales fueron convulsiones y retardo psicomotor, acompañados de degeneración macular y atrofia óptica. El EEG practicado con fotoestimulación en frecuencias bajas evidenció, en cinco casos, puntas occipitales de amplitud elevada. Los hallazgos en la neuroimagen fueron característicos de la forma LINCL. En tres pacientes se objetivaron lesiones hipointensas en regiones talámicas en las imágenes ponderadas en T2. El examen ultraestructural del material obtenido mediante biopsia mostró cuerpos curvilíneos en todos los pacientes estudiados. Conclusión. No existen datos epidemiológicos de CLN en Venezuela. Se presume la existencia de formas clínicas y variantes en edad pediátrica. Este primer estudio puede contribuir al conocimiento y mejor investigación de este grupo de trastornos en nuestra población (AU)

Introduction. Neuronal ceroid-lipofuscinosis (NCL), represents a group of inherited neurodegenerative disorders. Based on the age of the patient at onset, clinical course and ultraestructural morphology it has been identified three clinical types for the pediatric group: 1) Infantile NCL (INCL); 2) Late infantile NCL (LINCL); and 3) Juvenile NCL (JNCL). Other variants or atypical forms represent around 20% of the NCL in different populations. Genetic advances have made possible a better characterization, diagnostic and classification of these disorders. Case reports. We present the clinical, neurophysiological, neuroradiological, and morphological data from 6 patients with NCL, who were assessed at the pediatric neurology department of the Hospital Universitario de Maracaibo during a ten years period (1993-2003). All 6 cases corresponded with the late infantile form. Age of onset ranged form 2 to 5 years. For most of the patients initial symptoms included seizures, psychomotor delay, accompanied by macular degeneration and optic atrophy. The EEG was characterized by high voltage spikes elicited by low frequency photic stimulation, in 5 cases. Neuroimaging findings were characteristic of the late infantile form of the NCL. In three patients a decreased intensity of signal was seen in the thalami and putamine on T2-weighted images. The ultraestructural examination of the samples obtained thru a biopsy showed curvilinear bodies in all patients. Conclusion. There is not epidemiological data of the NCL in Venezuela; it is presumed the presence of clinical forms and variants in the pediatric group. This first study could contribute to the knowledge and a better research of this group of disorders in our population (AU)