Presentación de malformaciones congénitas diagnosticadas en el embarzo / Presentation of congenital malformations, diagnosed in pregnancy

Objetivo: Determina la prevalencia de malformaciones congénitas diagnosticadas por ecografía prenatal en el Hospital Materno Infantil Germán Urquidi, enero 2020 a diciembre de 2021. Conclusión: Es fundamental que las pacientes realicen de forma temprana el control prenatal para ser derivadas de manera oportuna a un centro de referencia en medicina materno fetal para el diagnóstico prenatal, de tal forma que permita un manejo por un equipo multidisciplinario que sea capaz de ofrecer consejería apropiada, evaluar la necesidad de mayor estudio, opciones de manejo y necesidad de seguimiento de la paciente para así coordinar el momento, lugar y vía de parto para un óptimo manejo postnatal.

Relación entre el seno maxilar y ápices de dientes postero- superiores con tomografía computarizada de haz cónico / Relationship between the maxillary sinus and apices of posterior-superior teeth using cone beam computed tomography

El conocimiento de la relación entre el seno maxilar y los ápices de los dientes posterosuperiores es fundamental para evitar complicaciones frente a distintos tratamientos. Estudio descriptivo de corte transversal, con muestra por conveniencia de 383 imágenes de raíces de dientes posterosuperiores obtenidas por medio de tomografía computarizada de haz cónico (TCHC) de un centro radiológico en Viña del Mar, Chile. Cada raíz fue clasificada según su relación vertical con el seno en 4 categorías (0: ápice no se encuentra en contacto con contorno inferior del seno; 1: ápice en contacto con seno; 2: ápice lateralmente al seno; 3: ápice se protruye en seno). Además se midió su distancia en mm. Los datos fueron analizados con estadística descriptivas. El diente más lejano al seno maxilar fue el primer premolar superior (4.2 mm), seguido por el segundo premolar superior (1 mm). En el primer molar superior la raíz más lejana fue la mesio-vestibular (MV) 1mm, seguida por la raíz disto-vestibular (DV) 0.6mm y la raíz palatina (P) -1mm. En el segundo molar superior la raíz más lejana fue P 0.4mm, luego la DV 0.3mm, y MV -0,11mm. En cuanto a las categorías, se observó que la mayoría de las raíces se encuentran alejadas del seno siendo la raíz P del primer molar superior y la raíz MV del segundo molar superior las que se encuentran mayormente protruidas (42 % y 26 % respectivamente). El primer premolar es el diente posterosuperior que se encuentra más alejado del seno maxilar y a medida que se avanza hacia posterior hay tendencia a disminuir la distancia entre los ápices y el seno maxilar.

SUMMARY: Knowledge of the relationship between the maxillary sinus and the apices of the upper posterior teeth is crucial to avoid complications when considering different treatments. A descriptive cross-sectional study was carried out, with a convenience sample of 383 images of upper posterior teeth roots, obtained by means of cone beam computed tomography (CBCT) from a radiological center in Viña del Mar, Chile. Each root was classified according to its vertical relationship with the sinus into 4 categories (0: apex is not in contact with the lower contour of the sinus; 1: apex is in contact with the sinus; 2: apex laterally to the sinus; 3: apex protrudes in sinus). In addition, its distance was measured in mm. The data were analyzed with descriptive statistics. The tooth farthest from the maxillary sinus was the maxillary first premolar (4.2 mm), followed by the maxillary second premolar (1 mm). In the upper first molar, the most distant root was the mesiobuccal (MV) 1mm, followed by the distobuccal root (DV) 0.6mm and the palatal root (P) -1mm. In the upper second molar, the furthest root was P 0.4mm, then DV 0.3mm, and MV -0.11mm. In reference to the categories, it was observed that most of the roots are far from the sinus, with the P root of the first upper molar and the MV root of the second upper molar being the most protruding (42 % and 26 % respectively). The first premolar is the posterior maxillary tooth that is furthest from the maxillary sinus and as one advances posteriorly there is a tendency to decrease the distance between the apices and the maxillary sinus.

Monocyte-derived cells invade brain parenchyma and amyloid plaques in human Alzheimer's disease hippocampus.

Microglia are brain-resident myeloid cells and play a major role in the innate immune responses of the CNS and the pathogenesis of Alzheimer's disease (AD). However, the contribution of nonparenchymal or brain-infiltrated myeloid cells to disease progression remains to be demonstrated. Here, we show that monocyte-derived cells (MDC) invade brain parenchyma in advanced stages of AD continuum using transcriptional analysis and immunohistochemical characterization in post-mortem human hippocampus. Our findings demonstrated that a high proportion (60%) of demented Braak V-VI individuals was associated with up-regulation of genes rarely expressed by microglial cells and abundant in monocytes, among which stands the membrane-bound scavenger receptor for haptoglobin/hemoglobin complexes or Cd163. These Cd163-positive MDC invaded the hippocampal parenchyma, acquired a microglial-like morphology, and were located in close proximity to blood vessels. Moreover, and most interesting, these invading monocytes infiltrated the nearby amyloid plaques contributing to plaque-associated myeloid cell heterogeneity. However, in aged-matched control individuals with hippocampal amyloid pathology, no signs of MDC brain infiltration or plaque invasion were found. The previously reported microglial degeneration/dysfunction in AD hippocampus could be a key pathological factor inducing MDC recruitment. Our data suggest a clear association between MDC infiltration and endothelial activation which in turn may contribute to damage of the blood brain barrier integrity. The recruitment of monocytes could be a consequence rather than the cause of the severity of the disease. Whether monocyte infiltration is beneficial or detrimental to AD pathology remains to be fully elucidated. These findings open the opportunity to design targeted therapies, not only for microglia but also for the peripheral immune cell population to modulate amyloid pathology and provide a better understanding of the immunological mechanisms underlying the progression of AD.

Transgenic Mouse Models of Alzheimer's Disease: An Integrative Analysis.

Alzheimer's disease (AD) constitutes the most prominent form of dementia among elderly individuals worldwide. Disease modeling using murine transgenic mice was first initiated thanks to the discovery of heritable mutations in amyloid precursor protein (APP) and presenilins (PS) genes. However, due to the repeated failure of translational applications from animal models to human patients, along with the recent advances in genetic susceptibility and our current understanding on disease biology, these models have evolved over time in an attempt to better reproduce the complexity of this devastating disease and improve their applicability. In this review, we provide a comprehensive overview about the major pathological elements of human AD (plaques, tauopathy, synaptic damage, neuronal death, neuroinflammation and glial dysfunction), discussing the knowledge that available mouse models have provided about the mechanisms underlying human disease. Moreover, we highlight the pros and cons of current models, and the revolution offered by the concomitant use of transgenic mice and omics technologies that may lead to a more rapid improvement of the present modeling battery.

Plaque-Associated Oligomeric Amyloid-Beta Drives Early Synaptotoxicity in APP/PS1 Mice Hippocampus: Ultrastructural Pathology Analysis.

Alzheimer's disease (AD) is a devastating neurodegenerative disorder characterized by initial memory impairments that progress to dementia. In this sense, synaptic dysfunction and loss have been established as the pathological features that best correlate with the typical early cognitive decline in this disease. At the histopathological level, post mortem AD brains typically exhibit intraneuronal neurofibrillary tangles (NFTs) along with the accumulation of amyloid-beta (Abeta) peptides in the form of extracellular deposits. Specifically, the oligomeric soluble forms of Abeta are considered the most synaptotoxic species. In addition, neuritic plaques are Abeta deposits surrounded by activated microglia and astroglia cells together with abnormal swellings of neuronal processes named dystrophic neurites. These periplaque aberrant neurites are mostly presynaptic elements and represent the first pathological indicator of synaptic dysfunction. In terms of losing synaptic proteins, the hippocampus is one of the brain regions most affected in AD patients. In this work, we report an early decline in spatial memory, along with hippocampal synaptic changes, in an amyloidogenic APP/PS1 transgenic model. Quantitative electron microscopy revealed a spatial synaptotoxic pattern around neuritic plaques with significant loss of periplaque synaptic terminals, showing rising synapse loss close to the border, especially in larger plaques. Moreover, dystrophic presynapses were filled with autophagic vesicles in detriment of the presynaptic vesicular density, probably interfering with synaptic function at very early synaptopathological disease stages. Electron immunogold labeling showed that the periphery of amyloid plaques, and the associated dystrophic neurites, was enriched in Abeta oligomers supporting an extracellular location of the synaptotoxins. Finally, the incubation of primary neurons with soluble fractions derived from 6-month-old APP/PS1 hippocampus induced significant loss of synaptic proteins, but not neuronal death. Indeed, this preclinical transgenic model could serve to investigate therapies targeted at initial stages of synaptic dysfunction relevant to the prodromal and early AD.

Longitudinal Assessment of Tau-Associated Pathology by 18F-THK5351 PET Imaging: A Histological, Biochemical, and Behavioral Study.

Several common and debilitating neurodegenerative disorders are characterized by the intracellular accumulation of neurofibrillary tangles (NFTs), which are composed of hyperphosphorylated tau protein. In Alzheimer's disease (AD), NFTs are accompanied by extracellular amyloid-beta (Aß), but primary tauopathy disorders are marked by the accumulation of tau protein alone, including forms of frontotemporal dementia (FTD), corticobasal degeneration (CBD), and progressive supranuclear palsy (PSP), among others. 18F-THK5351 has been reported to bind pathological tau as well as associated reactive astrogliosis. The goal of this study was to validate the ability of the PET tracer 18F-THK5351 to detect early changes in tau-related pathology and its relation to other pathological hallmarks. We demonstrated elevated in vivo 18F-THK5351 PET signaling over time in transgenic P301S tau mice from 8 months that had a positive correlation with histological and biochemical tau changes, as well as motor, memory, and learning impairment. This study indicates that 18F-THK5351 may help fill a critical need to develop PET imaging tracers that detect aberrant tau aggregation and related neuropathology in order to diagnose the onset of tauopathies, gain insights into their underlying pathophysiologies, and to have a reliable biomarker to follow during treatment trials.

Enhancing microtubule stabilization rescues cognitive deficits and ameliorates pathological phenotype in an amyloidogenic Alzheimer's disease model.

In Alzheimer's disease (AD), and other tauopathies, microtubule destabilization compromises axonal and synaptic integrity contributing to neurodegeneration. These diseases are characterized by the intracellular accumulation of hyperphosphorylated tau leading to neurofibrillary pathology. AD brains also accumulate amyloid-beta (Aß) deposits. However, the effect of microtubule stabilizing agents on Aß pathology has not been assessed so far. Here we have evaluated the impact of the brain-penetrant microtubule-stabilizing agent Epothilone D (EpoD) in an amyloidogenic model of AD. Three-month-old APP/PS1 mice, before the pathology onset, were weekly injected with EpoD for 3 months. Treated mice showed significant decrease in the phospho-tau levels and, more interesting, in the intracellular and extracellular hippocampal Aß accumulation, including the soluble oligomeric forms. Moreover, a significant cognitive improvement and amelioration of the synaptic and neuritic pathology was found. Remarkably, EpoD exerted a neuroprotective effect on SOM-interneurons, a highly AD-vulnerable GABAergic subpopulation. Therefore, our results suggested that EpoD improved microtubule dynamics and axonal transport in an AD-like context, reducing tau and Aß levels and promoting neuronal and cognitive protection. These results underline the existence of a crosstalk between cytoskeleton pathology and the two major AD protein lesions. Therefore, microtubule stabilizers could be considered therapeutic agents to slow the progression of both tau and Aß pathology.

Human Pluripotent Stem Cell-Derived Neural Cells as a Relevant Platform for Drug Screening in Alzheimer's Disease.

Extracellular amyloid-beta deposition and intraneuronal Tau-laden neurofibrillary tangles are prime features of Alzheimer's disease (AD). The pathology of AD is very complex and still not fully understood, since different neural cell types are involved in the disease. Although neuronal function is clearly deteriorated in AD patients, recently, an increasing number of evidences have pointed towards glial cell dysfunction as one of the main causative phenomena implicated in AD pathogenesis. The complex disease pathology together with the lack of reliable disease models have precluded the development of effective therapies able to counteract disease progression. The discovery and implementation of human pluripotent stem cell technology represents an important opportunity in this field, as this system allows the generation of patient-derived cells to be used for disease modeling and therapeutic target identification and as a platform to be employed in drug discovery programs. In this review, we discuss the current studies using human pluripotent stem cells focused on AD, providing convincing evidences that this system is an excellent opportunity to advance in the comprehension of AD pathology, which will be translated to the development of the still missing effective therapies.

Anatomy of the lateral pterygoid muscle and its relationship with temporomandibular disorders. A literature review

The lateral pterygoid muscle is a chewing muscle that is found bilaterally in the cranial region. Anatomically, the lateral pterygoid muscle is made up of two bellies, an upper belly and a lower belly. Its anatomical description present in the scientific lit-erature showed that there is an anatomical differ-ence or variation, mainly the insertions of the up-per belly of the lateral pterygoid muscle at the level of the temporomandibular joint, and specifically in the disc and articular condyle, although distribu-tions are reported similarly. They are not entirely accurate in smaller quantities: some articles re-ported variations in the insertion of the lower belly and others the appearance of a third belly of the lateral pterygoid muscle or medial belly. As men-tioned above, a high number of studies that presented some type of lateral pterygoid muscle vari-ation was associated with some type of temporo-mandibular disorders of the joint or some of its in-tra or extra-articular components. A review of the literature in scientific databases was carried out after the selection of the scientific articles, which were analyzed in full text, and the relationship between the anatomy of the lateral pterygoid muscleand the temporomandibular disorders was sought

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Distinct disease-sensitive GABAergic neurons in the perirhinal cortex of Alzheimer's mice and patients.

Neuronal loss is the best neuropathological substrate that correlates with cortical atrophy and dementia in Alzheimer's disease (AD). Defective GABAergic neuronal functions may lead to cortical network hyperactivity and aberrant neuronal oscillations and in consequence, generate a detrimental alteration in memory processes. In this study, using immunohistochemical and stereological approaches, we report that the two major and non-overlapping groups of inhibitory interneurons (SOM-cells and PV-cells) displayed distinct vulnerability in the perirhinal cortex of APP/PS1 mice and AD patients. SOM-positive neurons were notably sensitive and exhibited a dramatic decrease in the perirhinal cortex of 6-month-old transgenic mice (57% and 61% in areas 36 and 35, respectively) and, most importantly, in AD patients (91% in Braak V-VI cases). In addition, this interneuron degenerative process seems to occur in parallel, and closely related, with the progression of the amyloid pathology. However, the population expressing PV was unaffected in APP/PS1 mice while in AD brains suffered a pronounced and significant loss (69%). As a key component of cortico-hippocampal networks, the perirhinal cortex plays an important role in memory processes, especially in familiarity-based memory recognition. Therefore, disrupted functional connectivity of this cortical region, as a result of the early SOM and PV neurodegeneration, might contribute to the altered brain rhythms and cognitive failures observed in the initial clinical phase of AD patients. Finally, these findings highlight the failure of amyloidogenic AD models to fully recapitulate the selective neuronal degeneration occurring in humans.

Phagocytic clearance of presynaptic dystrophies by reactive astrocytes in Alzheimer's disease.

Reactive astrogliosis, a complex process characterized by cell hypertrophy and upregulation of components of intermediate filaments, is a common feature in brains of Alzheimer's patients. Reactive astrocytes are found in close association with neuritic plaques; however, the precise role of these glial cells in disease pathogenesis is unknown. In this study, using immunohistochemical techniques and light and electron microscopy, we report that plaque-associated reactive astrocytes enwrap, engulf and may digest presynaptic dystrophies in the hippocampus of amyloid precursor protein/presenilin-1 (APP/PS1) mice. Microglia, the brain phagocytic population, was apparently not engaged in this clearance. Phagocytic reactive astrocytes were present in 35% and 67% of amyloid plaques at 6 and 12 months of age, respectively. The proportion of engulfed dystrophic neurites was low, around 7% of total dystrophies around plaques at both ages. This fact, along with the accumulation of dystrophic neurites during disease course, suggests that the efficiency of the astrocyte phagocytic process might be limited or impaired. Reactive astrocytes surrounding and engulfing dystrophic neurites were also detected in the hippocampus of Alzheimer's patients by confocal and ultrastructural analysis. We posit that the phagocytic activity of reactive astrocytes might contribute to clear dysfunctional synapses or synaptic debris, thereby restoring impaired neural circuits and reducing the inflammatory impact of damaged neuronal parts and/or limiting the amyloid pathology. Therefore, potentiation of the phagocytic properties of reactive astrocytes may represent a potential therapy in Alzheimer's disease.

[Coverage and results of a screening program for diabetic retinopathy using mydriatic retinography in primary health care]. / Cribado de retinopatía diabética mediante retinografía midriática en atención primaria.

OBJECTIVE: To identify the coverage of a diabetic retinopathy screening program in primary health care and to assess agreement between ophthalmologists and family physicians (FP) regarding retinography evaluations of diabetic patients. MATERIALS AND METHODS: Cross-sectional observational study,with a review of diabetic patients' mydriatic retinographies (2007-2008) from three urban primary health centers (PHC)(Jaén-Spain). RESULTS: A total of 296 retinographies in 2007 and 380 in 2008 (coverage=26% ± 2,4) were reviewed. Pathological retinographies were identified by 181 FPs (27% ± 1,3) and 59 (9% ± 0,3) ophthalmologists.Total agreement was moderate (kappa=0, 408 ± 0,039).Agreement was better in the latter year (0,45 vs 0,34; p < 0,001 test χ²). FP evaluations showed 97% sensitivity, 80% specificity, 33% positive predictive value, 100% negative predictive value, 4, 88 positive likelihood ratio and 0,04 negative likelihood ratio. We find variability in coverage and agreement between PHC. CONCLUSIONS: Mydriatic retinographies performed and evaluated by FPs are useful to retinopathy screening of diabetic patients. Coverage, predictive values and likelihood ratio were better in the latter year, although the interpretation should be homogenized.

Cribado de retinopatía diabética mediante retinografía midriática en atención primaria / Coverage and results of a screening program for diabetic retinopathy using mydriatic retinography in primary health care

OBJETIVOS: Conocer la cobertura de un programa de cribado de retinopatía diabética en atención primaria y la concordancia entre médicos de familia (MF) y oftalmólogos. MATERIAL Y MÉTODOS: Estudio observacional transversal. Revisión de retinografías midriáticas de pacientes con diabetes mellitus tipo 2 (2007-2008) solicitadas por MF de tres centros de salud urbanos en Jaén,España. RESULTADOS: En total 296 retinografías (2007) y 380 (2008) (cobertura=26 por ciento±2.4).Retinografías patológicas: 181 MF (27 por ciento±1.3) y 59 (9 por ciento±0.3) oftalmólogos. Concordancia global moderada (kappa=0.408±0.039), que mejora del primer al segundo año (0.34 y 0.45; p<0.001, prueba χ2). La interpretación de los MF tiene sensibilidad, 97 por ciento, especificidad, 80 por ciento, VPP, 33 por ciento, VPN, 100 por ciento, cociente de probabilidad positivo, 4.88 y negativo, 0.04. Hay variabilidad en cobertura y concordancia entre centros de salud. CONCLUSIONES: La retinografía midriática realizada e interpretada por MF es útil como cribado de retinopatía en diabéticos. En el segundo año se mejora cobertura, valores predictivos y cocientes de probabilidad, aunque se debe homogeneizar la interpretación.

OBJECTIVE: To identify the coverage of a diabetic retinopathy screening program in primary health care and to assess agreement between ophthalmologists and family physicians (FP) regarding retinography evaluations of diabetic patients. MATERIALS AND METHODS: Cross-sectional observational study,with a review of diabetic patients' mydriatic retinographies (2007-2008) from three urban primary health centers (PHC)(Jaén-Spain). RESULTS: A total of 296 retinographies in 2007 and 380 in 2008 (coverage=26 percent±2,4) were reviewed. Pathological retinographies were identified by 181 FPs (27 percent±1,3) and 59 (9 percent±0,3) ophthalmologists.Total agreement was moderate (kappa=0,408±0,039).Agreement was better in the latter year (0,45 vs 0,34; p<0,001 test χ2). FP evaluations showed 97 percent sensitivity,80 percent specificity,33 percent positive predictive value, 100 percent negative predictive value, 4, 88 positive likelihood ratio and 0,04 negative likelihood ratio. We find variability in coverage and agreement between PHC. CONCLUSIONS: Mydriatic retinographies performed and evaluated by FPs are useful to retinopathy screening of diabetic patients. Coverage, predictive values and likelihood ratio were better in the latter year, although the interpretation should be homogenized.

Encefalocele occipital gigante neonatal, a propósito de un caso / Neonatal giant occipital encephalocele, a purpose of a case

El encefalocele es una protrusión del contenido endocraneano a través de un defecto óseo del cráneo debido a la falta de separación del ectodermo superficial del neuroectodermo, lo que determina un defecto mesodérmico en la calota. Se presenta el caso de una gestante de 21 años atendida en el Hospital Materno Infantil Germán Urquidi, que presenta al examen obstétrico una altura uterina de 20 cm, producto en situación longitudinal, presentación pélvica, FCF de 140/min, sin dinámica uterina ni modificaciones cervicales. Los laboratorios realizados reportan una infección urinaria, toxoplasmosis, citomegalovirus y alfa feto proteína elevada. El estudio ultrasonográfíco y ultrasonido 3D es compatible con acrania y cefalocele occipital. Se decide interrumpir la gestación induciéndose el parto; obteniéndose un óbito fetal masculino con peso de 1086 g, APGAR 0, que presenta solución de continuidad del cráneo en región occipital por el cual protruye el encéfalo envuelto por sus meninges y cuero cabelludo. La paciente cursa evolución favorable.

The encephalocele is a protrusion of intracranial contents through a skull bone defect due to the lack of separation of surface ectoderm from the neuroectoderm, which determines a mesodermal defect in the skull. A case of a pregnant woman of 21 who received care in Hospital Materno Infantil Germán Urquidi, who presents at the obstetric examination uterine height 20 cm, in a longitudinal situation, breech presentation, FHR of 140/min without uterine or cervical changes. The laboratories reported; urinary tract infection, toxoplasmosis, cytomegalovirus and high alpha-feto protein, and ultrasonography reporting occipital cephalocele, acrania, diagnosis confirmed by 3D ultrasound. It was decided to terminate the pregnancy, induce labor yielding a male stillbirth weighing 1086gr, APGAR 0, which provides integral partof the skull in the occipital region in which the brain protrudes surrounded by their meninges and scalp. The patient had favorable results.

Síndrome de brdaas amnioticas / Amniotic Band Syndrome

Se describe el caso de una paciente de 18 años de edad, natural de Cochabamba, primigesta, con 30 semanas de gestación, con antecedente de ruptura prematura de membranas de 1 mes, a quien se instituye tratamiento médico conservador, en el Hospital Materno Infantil "Germán Urquidi", de Cochabamba, por período de 13 días, donde se administra antibioticoterapia con ampicilina y gentamicina y se induce maduración pulmonar fetal con betametasona. Se realiza Examenes complementarios, ecografía, pruebas de bienestar fetal; presentando una evolución favorable, durante su internación. A pesar de ello la paciente y familiares solicitan su alta. Posterior a la misma (4 días después) reingresa al servicio, con signos clínicos de corioamnionítis y trabajo de parto, por lo que se decide interrumpir el embarazo mediante operación cesárea; dónde se obtiene un recién nacido vivo de sexo masculino, con alteraciones estructurales en extremidades superiores e inferiores, tipo "anillos de constricción", compatibles con Síndrome de Bridas Amnióticas, siendo la probable etiología la ruptura del amnios. Se revisó algunos aspectos de su baja frecuencia, factores de riesgo, diferentes hipótesis etiológicas, diagnóstico y conducta terapéutica.

We describe the case of a 18 years oíd primigrávida, native of Cochabamba, with 30 weeks of gestation, with a history of premature rupture of membranes dated 1 month ago, to whom conservative medical treatment was instituted, in the Materno Infantil "Germán Urquidi" Hospital of Cochabamba, for a period of 13 days, where antibiotic therapy was ad-ministered, pulmonary fetal maturation was induced; laboratory, ultrasound, and fetal wellbeing tests were applied, pre-senting a favorable evolution. The patient and family requested her discharge. Following the discharge, (4 days later) the patient was readmitted to the facility, with clinical signs of chorioamnionitis, and labor process, reason why it was decided to termínate the pregnancy by caesarean section; where a male new born was given birth, with structural changes in upper and lower extremities, like constriction bands, compatible with Amniotic Constriction Bands Syndrome, being the probable etiology of amnion rupture. We reviewed some aspects of its low prevalence, risk factors, different etiological hypotheses, diagnosis and therapeutic management.