THE 72-KDA PROTEIN OF NAEGLERIA FOWLERI PLAYS AN IMPORTANT ROLE IN THE ADHESION OF TROPHOZOITES TO BALB/C MICE NASAL EPITHELIUM.

Naegleria fowleri is a protozoan that causes primary amebic meningoencephalitis (PAM). The infection occurs when the trophozoites enter the nasal cavity, adhere to the nasal mucosa, invade the epithelium, and migrate until they reach the olfactory bulb. Like other pathogens, there is evidence that the adhesion of N. fowleri to host cells is an important factor in the process of cytopathogenicity and disease progression. However, the factors involved in the adhesion of the pathogen to the cells of the nasal epithelium have not been characterized. The objective of this study was to identify a protein on the surface of N. fowleri, which could act as adhesin to the mouse nasal epithelium in the PAM model. The interaction between proteins of extracts of N. fowleri and cells of the nasal epithelium of BALB/c mice was analyzed using overlay and Western blot assays. A 72-kDa band of N. fowleri interacted directly with epithelial cell proteins, this polypeptide band was purified and analyzed by mass spectrometry. Analysis revealed that polypeptide bands of 72 kDa contained peptides that matched the membrane protein, actin 1 and 2, and Hsp70. Moreover, the N. fowleri extracts resolved in 2D-SDS-PAGE showed that 72-kDa spot interacted with proteins of mouse epithelial cells, which include characteristics of the theoretical data of molecular weight and pH obtained in the analysis by mass spectrometry. Immunofluorescence tests showed that this protein is located on the surface of trophozoites and plays an important role in the adhesion of amoeba either in vitro or in vivo assays, suggesting that this protein contributes during the N. fowleri invasion and migration to the brain, causing primary amoebic meningoencephalitis.

Pharmacological Inventions for Alzheimer Treatment in the United States of America: A Revision Patent from 2010 - 2020.

Alzheimer's disease (AD) is the most common form of dementia. There is currently no cure, and the available pharmacological treatment focuses on treating the symptoms. This study aimed to analyze the pharmacological treatments for AD protected in the US Patent Office. The Matheo Patent software was used to search for patents granted in the 2010-2020 period in the USPTO database. The search strategy «Alzheimer¼ was used in title and abstract and the International Patent Classification (IPC) codes A61P* and A61K*. The selected patents were divided into six categories according to therapeutic target. Complementary information from scientific databases was used to determine the stage of investigation and efficacy of the patented molecules. In the analyzed period, 58 patents were granted: 10 directed to Aß peptide metabolism and deposition, three to tau, seven to inflammation, nine to cholinergic, two to glutamatergic and 27 to other targets. More than 80.0% belong to holders from the USA, France, and Japan. The molecules Elenbecestat and LY3202626 decreased the burden of Aß plaques without significant cognitive improvement, Donanemab is in Phase 3 clinical trial, and the FDA has designated it Breakthrough Therapy. CPC-201 and PXT864 demonstrated, in Phase 2, good tolerability and improvement of AD symptoms. Most of the inventions are focused on treating the earliest phase of AD. The most advanced treatments in their research are those focused on treating Aß accumulation. More studies are needed to prove the efficacy of the patented molecules.

Lower uterine segment thickness assessed by transvaginal ultrasound before labor induction: reproducibility analysis and relationship with delivery outcome.

OBJECTIVES: To evaluate the reproducibility of lower uterine segment (LUS) thickness measurement before induction of labor (IOL), and to assess the relationship between LUS thickness and IOL outcomes. METHODS: This was a prospective cohort study of pregnant women undergoing IOL at term, conducted in a single tertiary hospital between July 2014 and February 2017. Women with a singleton pregnancy at ≥ 37 weeks' gestation, with a live fetus in cephalic presentation and a Bishop score of ≤ 6, were eligible for inclusion. Both nulliparous and parous women, and those with a previous Cesarean section (CS), were eligible. All women underwent transvaginal ultrasound assessment before IOL admission, and cervical length and LUS thickness were measured offline after delivery. Maternal and obstetric characteristics and Bishop score were recorded. The main outcome was the overall rate of CS after IOL, and secondary outcomes were CS for either failure to progress in the active phase of labor or failed IOL, and CS for failed IOL only. Interobserver agreement for measurement of LUS thickness between two operators was assessed using the intraclass correlation coefficient (ICC) and Bland-Altman analysis with the ANOVA test to evaluate systematic bias. Univariable and multivariable analysis were employed to evaluate the relationship between clinical and sonographic characteristics and IOL outcomes. RESULTS: Of 265 women included in the analysis, 195 (73.6%) had a vaginal delivery and 70 (26.4%) required a CS after IOL. Reproducibility analysis showed excellent interobserver agreement for the measurement of LUS thickness (ICC, 0.96 (95% CI, 0.93-0.98)). On Bland-Altman analysis, the mean difference in LUS thickness between the two operators was 0.15 mm (95% limits of agreement, -1.84 to 2.14 mm), and there was no evidence of systematic bias (ANOVA test, P = 0.46). Univariable analysis showed that LUS thickness was associated significantly with overall CS (P = 0.002), CS for failure to progress in the active phase of labor or failed IOL (P = 0.03) and CS for failed IOL (P = 0.037). On multivariable logistic regression analysis, LUS thickness was an independent predictive factor for overall CS (odds ratio (OR), 1.149 (95% CI, 1.031-1.281)) and CS for failure to progress in the active phase of labor or failed IOL (OR, 1.226 (95% CI, 1.039-1.445)). CONCLUSIONS: In women undergoing IOL at term, measurement of LUS thickness is feasible and reproducible, and is associated significantly with IOL outcome. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Asociación entre gastritis biliar y gastritis por Helicobacter pylori en pacientes con reflujo duodenogástrico en el Hospital Central Militar / Association between biliary gastritis and gastritis by Helicobacter pylori in patients with duodenogastric reflection in the Military Central Hospital

Resumen Introducción: Esta investigación está orientada a conocer si existe una asociación (directa o indirecta) entre el reflujo duodenogástrico y las gastritis crónicas por Helicobacter pylori. Material y Metodo: Se recolectaron los datos de pacientes a quienes se les realizó panendoscopía diagnóstica en el departamento de endoscopia del Hospital Central Militar desde marzo del 2018 a febrero del 2019, por medio de una entrevista clínica y una hoja de recolección de datos. Resultados: Del grupo evaluado con reflujo duodenogástrico, el 44.1% (202 casos) presentaron gastritis química por reporte histopatológico. En el grupo de pacientes con reflujo duodenogástrico y gastritis química o biliar (n=202), el 22.7% (46 casos) presentó en el reporte histopatológico gastritis por Helicobacter pylori. En los pacientes con reflujo duodenogástrico y sin gastritis biliar (n=256), el 92.57% (237 casos) presentó gastritis por Helicobacter pylori en el reporte histopatológico. Discusión: Existe una asociación alta de tipo indirecto entre la gastritis biliar y gastritis por Helicobacter pylori en pacientes con reflujo duodenogástrico o biliar. Aproximadamente la mitad de los pacientes con reflujo duodenogástrico presentan gastritis biliar con el riesgo de desarrollar metaplasia intestinal. La gastropatía mixta (gastritis biliar y por Helicobacter pylori) es un factor de riesgo para mayor daño a la mucosa gástrica, como es la expresión de metaplasia intestinal.

Abstract Introduction: This research is oriented to know if there is an association (direct or indirect) between duodenogastric reflux and chronic gastritis by Helicobacter pylori. Material and Method: We collected data from patients who underwent diagnostic panendoscopy in the endoscopy department of the Central Military Hospital from March 2018 to February 2019, through a clinical interview and a data collection sheet. Results: Of the group evaluated with duodenogastric reflux, 44.1% (202 cases) presented chemical gastritis due to histopathological report. In the group of patients with duodenogastric reflux and chemical or biliary gastritis (n = 202), 22.7% (46 cases) presented gastritis due to Helicobacter pylori in the histopathological report. In patients with duodenogastric reflux and without biliary gastritis (n = 256), 92.57% (237 cases) presented gastritis due to Helicobacter pylori in the histopathological report. Discussion: There is a high association of indirect type between biliary gastritis and gastritis due to Helicobacter pylori in patients with duodenogastric or biliary reflux. Approximately half of the patients with duodenogastric reflux present biliary gastritis with the risk of developing intestinal metaplasia. Mixed gastropathy (biliary gastritis and Helicobacter pylori) is a risk factor for greater damage to the gastric mucosa, such as the expression of intestinal metaplasia.

Determination of bisphenols, parabens, and benzophenones in placenta by dispersive liquid-liquid microextraction and gas chromatography-tandem mass spectrometry.

Human exposure to endocrine disrupting chemicals (EDCs) is of particular concern during development. Bisphenols, parabens, and benzophenones are EDCs widely used in the manufacture of numerous goods, personal care products, and cosmetics. The aim of this study was to develop a new and practical method for determining three bisphenols, four parabens, and five benzophenones in placenta samples. It uses dispersive liquid-liquid microextraction (DLLME) in combination with gas chromatography-tandem mass spectrometry (GC-MS/MS). Several chemometric approaches were employed to optimize the experimental parameters. Limits of detection ranged from 0.04 to 0.08 ng g-1 and inter-day variabilities (evaluated as relative standard deviation) from 4.2% to 13.4%. The method was validated using matrix-matched standard calibration followed by a recovery assay with spiked samples. Recovery percentages ranged from 87.1% to 113.2%. Finally, the method was used to measure target compounds in 20 placental tissue samples from voluntary donors. This analytical procedure can provide information on the exposure of the fetus to non-persistent EDCs.

Preventing the recurrence of depression with a Mediterranean diet supplemented with extra-virgin olive oil. The PREDI-DEP trial: study protocol.

BACKGROUND: The role of dietary patterns in the prevention of unipolar depression has been analyzed in several epidemiological studies. The primary aims of this study are to determine the effectiveness of an extra-olive oil-enriched Mediterranean diet in reducing the recurrence of depression and improving the symptoms of this condition. METHODS: Multicenter, two-arm, parallel-group clinical trial. Arm 1, extra-virgin olive oil Mediterranean diet; Arm 2, control group without nutritional intervention. Dieticians are in charge of the nutritional intervention and regular contact with the participants. Contacts are made through our web platform ( https://predidep.es/participantes/ ) or by phone. Recurrence of depression is assessed by psychiatrists and clinical psychologists through clinical evaluations (semi-structured clinical interviews: Spanish SCID-I). Depressive symptoms are assessed with the Beck Depression Inventory. Information on quality of life, level of physical activity, dietary habits, and blood, urine and stool samples are collected after the subject has agreed to participate in the study and once a year. DISCUSSION: To the best of our knowledge, the PREDI-DEP trial is the first ongoing randomized clinical trial designed to assess the role of the Mediterranean diet in the prevention of recurrent depression. It could be a cost-effective approach to avoid recurrence and improve the quality of life of these patients. TRIAL REGISTRATION: The study has been prospectively registered in the U.S. National Library of Medicine ( https://clinicaltrials.gov ) with NCT number: NCT03081065.

Smart Release Nano-formulation of Cytochrome C and Hyaluronic Acid Induces Apoptosis in Cancer Cells.

Herein we tested a nanosized cancer-cell targeted delivery system based on cytochrome c (Cyt c) and hyaluronic acid. Cyt c was chosen since it is a per se non-toxic protein but causes apoptosis when delivered to the cytoplasm of target cells. Hyaluronic acid was employed to create the nanosized delivery system with passive targeting capability in order to exploit the enhanced permeation and retention (EPR) effect and active targeting capability of hyaluronic acid. In addition, our goal was to incorporate a smart release strategy to only promote protein release upon reaching its target. Nanoparticles were formed by a simple yet precise nanoprecipitation process based on desolvation. They were physically characterized to select precipitation conditions leading to adequate size, shape, protein bioactivity, and protein loading to produce a feasible targeted cancer treatment. We synthesized nanoparticles of around 500 nm diameter with a 60% protein loading and more than 80% of protein bioactivity. In vitro, cumulative release of 92% of Cyt c was observed after 8 h under conditions mimicking the reductive intracellular environment, while under non-denaturing conditions only 20% was released. The nanoparticles displayed a selective cytotoxic effect on cancer cells. After 6 h of incubation with the nanoparticles, hyaluronic acid receptor over expressing A549 human lung adenocarcinoma cells showed a viability of ca. 20% at 0.16 mg/ml of Cyt c concentration. Only a negligible effect was observed on viability of COS-7 African green monkey kidney fibroblast, a normal cell line notoverexpressing the hyaluronic acid receptor. Confocal microscopy confirmed that the drug delivery system indeed delivered Cyt c to the cytoplasm of the target cells. We conclude that we were able to create a smart stimuli-responsive targeted drug delivery system with significant potential in cancer therapy.

Static behavior of a zirconia abutment subjected to artificial aging: finite element method / Comportamiento estático de un pilar de circona sometido a envejecimiento artificial: método de elementos finitos

ABSTRACT. Introduction: some studies on the effect of zirconia aging mention a degree of reduction of zirconia′s fracture strength varying from 20 to 40%, while other authors argue that aging does not affect the material′s strength. The aim of this study was to evaluate the response of a zirconia abutment subjected to static loads and artificial aging using the finite element method (FEM). Methods: modeling of the Tapered Screw- Vent implant and the zirconia Zimmer® abutment (Zimmer Dental1 900 Aston Avenue Carlsbad, CA 92008-7308 USA). Four models were designed: one with an implant of 3.7 mm in diameter and a 3.5 mm diameter abutment, another with an implant of 4.7 mm in diameter and a 4.5 mm diameter abutment, and other two with the same dimensions but changing the final fracture limit to 40%, analyzing the response of different components to specific loads. Results: models subjected to decreases in zirconia abutment fracture strength did not show zirconia differences in terms of von Mises values. A factor of safety allowed observing the working threshold of the zirconia abutment; failure occurred at values lower than 1. Conclusions: by modifying zirconia′s properties in order to simulate aging, the factor of safety decreases at values lower than 1. However, the applied forces under which the safety factor decreases are higher than normal masticatory forces.

RESUMEN. Introducción: estudios sobre el efecto del envejecimiento de la circona refieren una disminución de la resistencia a la fractura de la circona que varía del 20 al 40%, mientras que otros argumentan que no influye en la resistencia del material. El propósito de este estudio fue evaluar la respuesta de un pilar de circona sometido a carga estática y envejecimiento artificial usando el método de elementos finitos (MEF). Métodos: se modelaron el implante Tapered Screw-Vent y el pilar de circona Zimmer® (Zimmer Dental1 900 Aston Avenue Carlsbad, CA 92008- 7308 USA). Se diseñaron cuatro modelos: uno con implante de 3,7 de diámetro y pilar de 3,5 mm de diámetro, otro con un implante de 4,7 de diámetro y un pilar de 4,5 mm de diámetro, y otros dos con las mismas dimensiones pero modificando el limite último de fractura en un 40%. Se observó el comportamiento de los diferentes componentes ante la carga. Resultados: en los modelos donde se aplicó la disminución de la resistencia a la fractura del pilar de circona, no se observaron diferencias en la circona en cuanto a los valores de von Mises. Se generó un coeficiente de seguridad que permitió observar el umbral de trabajo del pilar de circona, a valores inferiores a 1 se presentó la falla. Conclusiones: al modificar las propiedades de la circona, para simular el envejecimiento, el factor de seguridad disminuye a valores inferiores a 1. Sin embargo, las fuerzas aplicadas bajo las cuales disminuye el factor de seguridad son superiores a las fuerzas de la masticación normal.

Biosimilars in Dermatology: Current Situation (Part II).

The first biosimilar version of a biologic agent used to treat psoriasis (infliximab) entered the Spanish market on February 16 of this year, and more biosimilars can be expected to follow in the coming months and years. Logically, this new situation will have economic repercussions and alter prescribing patterns among dermatologists. In this second part of the review, we will look at several somewhat contentious issues, such as the extrapolation of indications, interchangeability, and automatic substitution. We will also review the biosimilars with indications for psoriasis currently in the clinical development pipeline and assess their potential to offer comparable efficacy and safety to the reference product while contributing to the sustainability of the public health care system.

Biosimilars in Dermatology: Current Situation (Part I).

The first biosimilar version of a biologic agent used to treat psoriasis (infliximab) entered the Spanish market on February 16 of this year, and more biosimilars can be expected to follow in the coming months and years. Logically, this new situation will have economic repercussions and alter prescribing patterns among dermatologists. In this article, we review regulatory issues related to the approval of biosimilars, with a particular focus on the situation in the European Union. We will examine analytical characterization studies and special considerations for clinical trials with biosimilars, and also look at several somewhat contentious issues, such as the extrapolation of indications, interchangeability, and automatic substitution. Finally, we will review the biosimilars with indications for psoriasis currently in the clinical development pipeline and assess their potential to offer comparable efficacy and safety to the reference product while contributing to the sustainability of the public health care system.

Value of endoscopy and MRI for predicting intestinal surgery in patients with Crohn's disease in the era of biologics.

OBJECTIVE: Severe endoscopic lesions (SEL) in patients with colonic Crohn's disease (CD) have been linked to higher risk of colectomy. The aims of this study were to reassess the predictive value of colonoscopy compared against MRI for requirement of resection surgery in patients with CD and determine the influence of current therapeutic options. DESIGN: In this single-centre, observational, prospective, longitudinal study, patients with an established diagnosis of CD and suspected activity were included. After baseline assessment, including colonoscopy and MRI, patients were followed until resection surgery or the end of study. RESULTS: 112 patients were eligible for analysis. Ulcers were present in 94/112 (84%) of patients at colonoscopy (SELs in 51/112 (46%)) and stenosis in 38/112 (34%). MRI identified ulcers in 79/112 (71%) of patients, stenosis in 36/112 (32%) and intra-abdominal fistulae in 20/112 (18%). Surgical resection requirements (29/112 (26%)) were not associated with the presence of SELs at colonoscopy. The presence of stenosis (p<0.001) or intra-abdominal fistulae (p<0.001) at MRI correlated with a higher risk of surgery. In the multivariate analysis, perianal disease (OR 9 (2 to 39), p=0.003), stenosis (OR 3.4 (1 to 11), p=0.04) and fistulae at MRI (OR 10.6 (2 to 46), p=0.002) increased the risk of abdominal resection surgery, while months under immunomodulators (OR 0.94 (0.90 to 0.98), p=0.002) and/or antitumor necrosis factor (anti-TNF) therapy (OR 0.97 (0.94 to 1), p=0.04) during follow-up decreased this risk. CONCLUSIONS: Perianal disease, stenosis and/or intra-abdominal fistulae at MRI independently predict an increased risk of resection surgery in patients with CD, whereas immunosuppressants and/or anti-TNF therapy reduce such risk. Under current therapeutic strategies, the presence of SELs is not a predictor of resection surgery in patients with CD.

Ascorbic acid PEG-2L is superior for early morning colonoscopies in colorectal cancer screening programs: a prospective non-randomized controlled trial.

BACKGROUND: The quality of colon cleansing and the tolerability of anterograde preparation are essential to the success of colorectal cancer screening. AIM: To compare the tolerability and efficacy of low-volume preparations vs the standard regimen in individuals scheduled for an early morning colonoscopy. STUDY: Participants in a population-based colorectal cancer screening program using the fecal immunochemical test who were scheduled for a colonoscopy from 09:00 a.m. to 10:20 a.m. were prospectively included and assigned to: (1) control group (PEG-ELS 4L): PEG 4L and electrolytes; (2) group AscPEG-2L: a combination of PEG and ascorbic acid 2L; and (3) group PiMg: sodium picosulfate and magnesium citrate 500 mL plus 2L of clear fluids. Tolerability was evaluated with a questionnaire and the quality of bowel preparation with the Boston Bowel Preparation Scale. RESULTS: A total of 292 participants were included: 98 in the PEG-ELS 4L control group, 96 in the AscPEG-2L study group and 98 in the PiMg study group. Low-volume treatments were better tolerated than the standard solution (AscPEG-2L 94.8% and PiMg 93.9% vs PEG-ELS 4L 75.5%; p < 0.0001). The effectiveness of AscPEG-2L was superior to that of PEG-ELS 4L and PiMg (p = 0.011 and p = 0.032, respectively). Patient acceptance was higher for single-dose than for split-dose administration but efficacy was higher with the split dose than with other doses. CONCLUSIONS: In early morning colonoscopies, ascPEG-2L appears to be the best option, especially when administered in a split-dose.

[Immigration and factors associated with breastfeeding. CALINA study]. / Inmigración y factores asociados con la lactancia materna. Estudio CALINA.

OBJECTIVE: To identify socio-cultural, obstetric and perinatal characteristics associated with complete breastfeeding (CBF) during the first 4 months of age, depending on maternal origin. MATERIAL AND METHODS: Socio-cultural, obstetric and perinatal aspects associated with breastfeeding depending on maternal origin were evaluated in a longitudinal study in a representative infant population from Aragon (n = 1452). RESULTS: The prevalence of CBF was higher in immigrant mothers than in those from Spain. CBF was maintained in 37.2% of mothers from Spain at 4 months, compared with 43% of immigrants (P=.039) (RR Spanish/immigrants=0.76; 95% CI: 0.58-0.99); at 6 months this occurred in 13.9% vs. 23.8%, respectively (P<.001) (RR Spanish/immigrants=0.52; 95% CI: 0.37-0.72). The factors associated with CBF at 4 months are different between both groups. Mothers born in Spain are older (P=.002), have higher academic level (P=.001), greater parity (P=.003), and a higher probability of vaginal delivery (P=.005); and their children have the highest anthropometric values at birth. However, in immigrant mothers, the maintenance of CBF was associated with a higher maternal body mass index and with working at home. In both groups, CBF remains more frequently in those mothers who do not smoke (P=.001). CONCLUSIONS: The prevalence of CBF during the first months of life is higher in immigrant mothers than in those from Spain, and socio-cultural, obstetric and perinatal factors are different, depending on maternal origin.

Effect of new ethyl and methyl carbamates on Rhipicephalus microplus larvae and adult ticks resistant to conventional ixodicides.

The effects of six new synthetic carbamates on fully engorged females of four Rhipicephalus microplus strains (one reference strain susceptible to conventional ixodicides, two strains multiresistant to ixodicides and one tick field isolate) were compared. In addition, the effect of two other new synthetic carbamates was tested on larvae from the same strains. The first six tested carbamates reduced egg laying and inhibited egg hatching in the four studied strains (P<0.05). Compared with untreated females, the eggs produced by the treated engorged female ticks of all strains had a dark, dry, opaque appearance and were less adherent. The remaining two tested carbamates induced larval mortality in all of the evaluated strains. The three studied R. microplus strains displayed 50% resistance ratios (RR50) of less than 2 when compared to the susceptible reference strain. These results demonstrate that both carbamates with a larvicidal effect and carbamates that inhibit egg laying and embryo development are efficacious against tick strains that are resistant to commercial ixodicides, no cross resistance was observed.

Clinical potential of DAS181 for treatment of parainfluenza-3 infections in transplant recipients.

Parainfluenza virus (PIV) infections can cause serious respiratory infections and death in immunocompromised patients. No antiviral agents have proven efficacy against PIV, and therapy generally consists of supportive care. DAS181, a novel sialidase fusion protein that temporarily disables airway epithelial PIV receptors by enzymatic removal of sialic acid moieties, has been shown to inhibit infection with PIV strains in vitro and in an animal model. We describe here the clinical course of 2 immunocompromised patients with PIV-3 infection, one with a history of lung transplantation and the other neutropenic after autologous hematopoietic stem cell transplantation for multiple myeloma. Both patients had substantial clinical improvement in respiratory and systemic symptoms after a 5-day DAS181 treatment course, although the clinical improvement in the autologous stem cell transplantation patient also paralleled neutrophil engraftment.

Awareness of cognitive impairment in schizophrenia and its relationship to insight into illness.

BACKGROUND: Patients with schizophrenia have been found to show unawareness of cognitive impairment. However, its frequency and its relationship to lack of insight into illness are uncertain. METHOD: Forty-two patients with chronic schizophrenia were given tests of executive function and memory. Awareness of cognitive impairment was measured by means of discrepancy scores--differences between patient and psychologist ratings of memory and frontal/executive failures in daily life. Insight into illness was assessed using the Scale to Assess Unawareness of Mental Disorder (SUMD). RESULTS: A majority of the patients were found to underestimate their cognitive impairment; however, some overestimated it. Unawareness of cognitive impairment and lack of clinical insight loaded on different factors in a factor analysis, but these two factors were themselves correlated. CONCLUSIONS: The findings suggest that both unawareness and overestimation of cognitive impairment characterise patients with schizophrenia, although the former is more common. Awareness of cognitive impairment occurs independently of insight into illness at the clinical level, although the two phenomena may be linked at a deeper level.

Imaging and clinical features in a child with Loeys-Dietz syndrome. A case report.

We describe a boy with Loeys-Dietz syndrome (LDS) a genetic and recently described condition that affects connective tissues belonging to a group of Marfan-related disorders. Since there are only a few cases reported misdiagnosis may not be uncommon. Radiological findings in our patient include pectus excavatum, aortic root dilatation, diffuse dilatation of the intracerebral vessels and a Chiari I malformation. We describe the imaging findings, clinical presentation and diagnosis criteria of this entity.