An updated protocol for mandibular reconstruction in nongrowing patients with craniofacial microsomia with temporomandibular joint total prosthesis.

The authors aim to present an updated protocol for mandibular reconstruction in nongrowing patients with Pruzansky/Kaban type IIb/III congenital craniofacial microsomia with customized temporomandibular joint (TMJ) prosthesis to reduce facial nerve (FN) damage and improve surgical accuracy. This is illustrated (using 3 cases) and is based on preoperative mapping of the FN using MRI for better virtual surgical planning of custom-made TMJ prosthesis. Intraoperative FN mapping and monitoring, as well as verification of the final result with intraoperative cone-beam computed tomography (CBCT) and 3D-reconstructed images is also achieved. All 3 patients presented mild transient postoperative facial palsy due to surgical soft tissue stretching which resolved within 2 months of surgery. All patients presented proper occlusion and mouth opening without pain, with an average incisal opening of 38.8 mm (range 35.5-42 mm) at two months of follow-up. Moreover, superposition of intraoperative and preoperative 3D reconstruction images ensured surgical accuracy and avoided the need for a potential reintervention. In conclusion, the proposed surgical protocol for mandibular reconstruction with customized alloplastic TMJ prosthesis in nongrowing patients with type IIb/III Pruzansky-Kaban congenital mandibular hypoplasia may reduce FN morbidity, improve surgical accuracy and final outcomes.

Combination of white matter hyperintensities and Aß burden is related to cognitive composites domain scores in subjective cognitive decline: the FACEHBI cohort.

BACKGROUND: To explore whether the combination of white matter hyperintensities (WMHs) and amyloid-beta (Aß) deposition is associated with worse cognitive performance on cognitive composites (CCs) domain scores in individuals with subjective cognitive decline (SCD). METHODS: Two hundred participants from the FACEHBI cohort underwent structural magnetic resonance imaging (MRI), 18F-florbetaben positron emission tomography (FBB-PET), and neuropsychological assessment. WMHs were addressed through the Fazekas scale, the Age-Related White Matter Changes (ARWMC) scale, and the FreeSurfer pipeline. Eight CCs domain scores were created using the principal component analysis (PCA). Age, sex, education, and apolipoprotein E (APOE) were used as adjusting variables. RESULTS: Adjusted multiple linear regression models showed that FreeSurfer (B - .245; 95% CI - .1.676, - .393, p = .016) and ß burden (SUVR) (B - .180; 95% CI - 2.140, - .292; p = .070) were associated with face-name associative memory CCs domain score, although the latest one was not statistically significant after correction for multiple testing (p = .070). There was non-significant interaction of these two factors on this same CCs domain score (p = .54). However, its cumulative effects on face-name associative performance indicated that those individuals with either higher WMH load or higher Aß burden showed the worst performance on the face-name associative memory CCs domain score. CONCLUSIONS: Our results suggest that increased WMH load and increased Aß are independently associated with poorer episodic memory performance in SCD individuals, indicating a cumulative effect of the combination of these two pathological conditions in promoting lower cognitive performance, an aspect that could help in terms of treatment and prevention.

Correlations between plasma and PET beta-amyloid levels in individuals with subjective cognitive decline: the Fundació ACE Healthy Brain Initiative (FACEHBI).

BACKGROUND: Peripheral biomarkers that identify individuals at risk of developing Alzheimer's disease (AD) or predicting high amyloid beta (Aß) brain burden would be highly valuable. To facilitate clinical trials of disease-modifying therapies, plasma concentrations of Aß species are good candidates for peripheral AD biomarkers, but studies to date have generated conflicting results. METHODS: The Fundació ACE Healthy Brain Initiative (FACEHBI) study uses a convenience sample of 200 individuals diagnosed with subjective cognitive decline (SCD) at the Fundació ACE (Barcelona, Spain) who underwent amyloid florbetaben(18F) (FBB) positron emission tomography (PET) brain imaging. Baseline plasma samples from FACEHBI subjects (aged 65.9 ± 7.2 years) were analyzed using the ABtest (Araclon Biotech). This test directly determines the free plasma (FP) and total plasma (TP) levels of Aß40 and Aß42 peptides. The association between Aß40 and Aß42 plasma levels and FBB-PET global standardized uptake value ratio (SUVR) was determined using correlations and linear regression-based methods. The effect of the APOE genotype on plasma Aß levels and FBB-PET was also assessed. Finally, various models including different combinations of demographics, genetics, and Aß plasma levels were constructed using logistic regression and area under the receiver operating characteristic curve (AUROC) analyses to evaluate their ability for discriminating which subjects presented brain amyloidosis. RESULTS: FBB-PET global SUVR correlated weakly but significantly with Aß42/40 plasma ratios. For TP42/40, this observation persisted after controlling for age and APOE ε4 allele carrier status (R2 = 0.193, p = 1.01E-09). The ROC curve demonstrated that plasma Aß measurements are not superior to APOE and age in combination in predicting brain amyloidosis. It is noteworthy that using a simple preselection tool (the TP42/40 ratio with an empirical cut-off value of 0.08) optimizes the sensitivity and reduces the number of individuals subjected to Aß FBB-PET scanners to 52.8%. No significant dependency was observed between APOE genotype and plasma Aß measurements (p value for interaction = 0.105). CONCLUSION: Brain and plasma Aß levels are partially correlated in individuals diagnosed with SCD. Aß plasma measurements, particularly the TP42/40 ratio, could generate a new recruitment strategy independent of the APOE genotype that would improve identification of SCD subjects with brain amyloidosis and reduce the rate of screening failures in preclinical AD studies. Independent replication of these findings is warranted.

FACEHBI: A Prospective Study of Risk Factors, Biomarkers and Cognition in a Cohort of Individuals with Subjective Cognitive Decline. Study Rationale and Research Protocols.

BACKGROUND: Long-term longitudinal studies with multimodal biomarkers are needed to delve into the knowledge of preclinical AD. Subjective cognitive decline has been proposed as a risk factor for the development of cognitive impairment. Thus, including individuals with SCD in observational studies may be a cost-effective strategy to increase the prevalence of preclinical AD in the sample. OBJECTIVES: To describe the rationale, research protocols and baseline characteristics of participants in the Fundació ACE Healthy Brain Initiative (FACEHBI). DESIGN: FACEHBI is a clinical trial (EudraCT: 2014-000798-38) embedded within a long-term observational study of individuals with SCD. SETTING: Participants have been recruited at the memory clinic of Fundació ACE (Barcelona) from two different sources: patients referred by a general practitioner and individuals from an Open House Initiative. PARTICIPANTS: 200 individuals diagnosed with SCD with a strictly normal performance in a comprehensive neuropsychological battery. MEASUREMENTS: Individuals will undergo an extensive neuropsychological protocol, risk factor assessment and a set of multimodal biomarkers including florbetaben PET, structural and functional MRI, diffusion tensor imaging, determination of amyloid species in plasma and neurophthalmologic assessment with optical coherence tomography. RESULTS: Two hundred individuals have been recruited in 15 months. Mean age was 65.9 years; mean MMSE was 29.2 with a mean of 14.8 years of education. CONCLUSIONS: FACEHBI is a long-term study of cognition, biomarkers and lifestyle that has been designed upon an innovative symptom-based approach using SCD as target population. It will shed light on the pathophysiology of preclinical AD and the role of SCD as a risk marker for the development of cognitive impairment.

[Increasing diagnosis of eosinophilic esophagitis in Spain]. / Aumento del diagnóstico de esofagitis eosinofílica en nuestro medio.

INTRODUCTION: Eosinophilic esophagitis is a chronic inflammation of the esophagus characterized by marked eosinophilic infiltration. It is frequently associated with other allergic diseases. In the last few years, the incidence of eosinophilic infiltration has shown a striking increase in Spain, partly due to better knowledge of the disease and to the correct diagnosis of patients previously thought to be suffering from gastroesophageal reflux. MATERIAL AND METHODS: To report our experience in the diagnosis of eosinophilic esophagitis in the last few years and compare our data with previously published findings and current knowledge of the subject. RESULTS: From January 1997 to November 2003, 11 patients (nine boys and two girls) were diagnosed with eosinophilic esophagitis. The mean age at diagnosis was 9 years and 7 months. The most frequent symptoms were dysphagia with solids and food impaction. Seven patients had a familial history of allergy. Allergic tests were positive in eight patients; five had food allergy, five were positive for aeroallergens and two patients had mixed allergy. Endoscopy showed esophageal trachealization in two patients and papular whitish exudate in a further two; both these findings are characteristic of eosinophilic esophagitis. Endoscopic appearance was normal in seven patients. Esophageal biopsies showed > 20 eosinophils/hpf. Five patients had eosinophilic infiltration in other parts of the digestive tract. All the patients with food allergy were put on exclusion diets. Three patients received systemic steroids and cromolyn sodium and three received montelukast, with good response in all patients. CONCLUSIONS: The incidence of eosinophilic esophagitis is increasing. This disease should be considered in patients with longstanding symptoms presumed to be caused by gastroesophageal reflux or motility disorders with poor response to standard therapy. Eosinophilic esophagitis is frequently associated with allergy. A normal appearance of esophageal mucosa on endoscopy should not prevent the clinician from taking multiple biopsies. Patients with eosinophilic esophagitis show good response to anti-allergic treatment.

Aumento del diagnóstico de esofagitis eosinofílica en nuestro medio / Increasing diagnosis of eosinophilic esophagitis in Spain

Introducción: La esofagitis eosinofílica es una inflamación crónica del esófago con alto grado de infiltración eosinófila. Relacionada con otros procesos alérgicos, su prevalencia está aumentando llamativamente en los últimos años en nuestro medio, lo cual, con toda probabilidad se ha visto beneficiado por un mejor diagnóstico de cuadros clínicos antes clasificados como reflujo gastroesofágico (RGE). Material y métodos: Recoger nuestra experiencia en el diagnóstico de esofagitis eosinofílica en los últimos años comparando nuestros hallazgos con los datos publicados y los conocimientos actuales sobre el tema. Resultados: Desde enero de 1997 hasta noviembre de 2003, 11 pacientes (9 varones, 2 mujeres) fueron diagnosticados de esofagitis eosinofílica. La edad media al diagnóstico fue de 9 años y 7 meses. Los síntomas más frecuentes eran disfagia para sólidos e impactación de alimentos. Siete pacientes tenían antecedentes alérgicos. Las pruebas alérgicas presentaban positividad en 8 pacientes; cinco alergia alimentaria, cinco frente a neumoalérgenos y dos mixta. Endoscópicamente se observó traquealización esofágica en 2 pacientes y exudado papular blanquecino en otros dos, siendo ambos hallazgos bastante característicos. El aspecto endoscópico fue normal en 7 pacientes. El estudio anatomopatológico mostraba un recuento de eosinófilos superior a 20 por campo de gran aumento. Cinco pacientes presentaban infiltración eosinofílica en otras partes del tubo digestivo. Se instauró dieta de exclusión en los pacientes con alergia alimentaria. Tres pacientes recibieron esteroides sistémicos y cromoglicato, y tres fueron tratados con montelukast, con buena respuesta. Conclusiones: La esofagitis eosinofílica es una entidad en aumento que debe entrar en el diagnóstico diferencial de los pacientes con síntomas indicativos de RGE o trastornos motores esofágicos con mala respuesta a tratamientos convencionales. Con frecuencia aparece en pacientes con antecedentes alérgicos. La normalidad endoscópica no debe evitar la toma de múltiples biopsias esofágicas ante la sospecha clínica. Los pacientes muestran buena respuesta a tratamientos antialérgicos (AU)

Introduction: Eosinophilic esophagitis is a chronic inflammation of the esophagus characterized by marked eosinophilic infiltration. It is frequently associated with other allergic diseases. In the last few years, the incidence of eosinophilic infiltration has shown a striking increase in Spain, partly due to better knowledge of the disease and to the correct diagnosis of patients previously thought to be suffering from gastroesophageal reflux. Material and methods: To report our experience in the diagnosis of eosinophilic esophagitis in the last few years and compare our data with previously published findings and current knowledge of the subject. Results: From January 1997 to November 2003, 11 patients (nine boys and two girls) were diagnosed with eosinophilic esophagitis. The mean age at diagnosis was 9 years and 7 months. The most frequent symptoms were dysphagia with solids and food impaction. Seven patients had a familial history of allergy. Allergic tests were positive in eight patients; five had food allergy, five were positive for aeroallergens and two patients had mixed allergy. Endoscopy showed esophageal trachealization in two patients and papular whitish exudate in a further two; both these findings are characteristic of eosinophilic esophagitis. Endoscopic appearance was normal in seven patients. Esophageal biopsies showed > 20 eosinophils/hpf. Five patients had eosinophilic infiltration in other parts of the digestive tract. All the patients with food allergy were put on exclusion diets. Three patients received systemic steroids and cromolyn sodium and three received montelukast, with good response in all patients. Conclusions: The incidence of eosinophilic esophagitis is increasing. This disease should be considered in patients with longstanding symptoms presumed to be caused by gastroesophageal reflux or motility disorders with poor response to standard therapy. Eosinophilic esophagitis is frequently associated with allergy. A normal appearance of esophageal mucosa on endoscopy should not prevent the clinician from taking multiple biopsies. Patients with eosinophilic esophagitis show good response to anti-allergic treatment (AU)

[Sickle cell anemia: experience in a center]. / Drepanocitosis: experiencia de un centro.

BACKGROUND: Sickle cell anemia is a structural hemoglobinopathy in which morphological and physical changes in erythrocytes cause vaso-occlusive episodes in various organs and tissues. The disease is common among blacks and the African population. As a result of the growing migratory flow, this is an emerging disease in Spain. OBJECTIVE: To present the casuistics of a pediatric hospital: clinical onset, the most frequent features and complications, and treatment. MATERIAL AND METHODS: We performed a retrospective study of 22 patients aged less than 18 years old diagnosed with sickle cell anemia between January 1985 and December 2001. Epidemiologic data, symptoms, complications, blood test results, treatment, and response were recorded. RESULTS: The mean age of the patients was 39 months. In 54 %, diagnosis was established before the age of 2 years. No differences were found in sex. The countries of origin were Gambia in 32 %, Morocco in 23 %, and Senegal in 18 % as well as other African and Central America countries; 53 % of the children were born in Spain. The most common complaint was vaso-occlusive pain localized in the abdomen (45 %). The most frequent complications were infections and 13.7 % suffered stroke. Twenty-eight percent of the patients diagnosed before the age of 2 years presented complications. Eleven patients received hydroxyurea for recurrent vaso-occlusive crises with favorable results; one patient underwent splenectomy and another received an allogenic bone marrow transplant from an HLA-identical brother with excellent results. CONCLUSIONS: This study reproduces the data described in the literature from countries with a high prevalence of the disease. Morbidity could be minimized by early diagnosis and preventive treatment and good healthcare. Given the increasing incidence of the disease, screening of black and African neonates and genetic counseling are recommended together with guidelines for prompt and appropriate treatment in primary health centers and emergency departments.

Drepanocitosis: experiencia de un centro / Sickle cell anemia: experience in a center

Antecedentes: La drepanocitosis es una hemoglobinopatía estructural, frecuente en población de origen africano y raza negra, en la que los cambios morfológicos y físicos producidos en los eritrocitos son causa de episodios vasooclusivos a nivel de diferentes órganos y tejidos. Con motivo de los flujos migratorios la drepanocitosis es una enfermedad emergente en nuestro medio. Objetivo Presentar la casuística de un hospital pediátrico: manifestaciones clínicas iniciales, complicaciones más frecuentes y tratamiento. Material y métodos Estudio retrospectivo de 22 pacientes, menores de 18 años de edad, diagnosticados de drepanocitosis (Hb S/S) desde enero de 1985 hasta diciembre de 2001. Se recogieron datos epidemiológicos, manifestaciones clínicas, complicaciones, resultados analíticos y tratamientos recibidos. Resultados La media de edad fue de 39 meses; el 54 per cent de los niños fue diagnosticado antes de los 2 años de vida. No hubo diferencia entre ambos sexos y la nacionalidad de origen más frecuente fue Gambia (32 per cent), seguida de Marruecos (23 per cent) y Senegal (18 per cent), incluyendo otros países africanos y centroamericanos, aunque el 53 per cent de los pacientes había nacido en España. El motivo de consulta más frecuente fue crisis vasooclusiva de localización abdominal (45 per cent). Las infecciones fueron las complicaciones más frecuentes y el 13,7 per cent sufrieron un accidente cerebrovascular. El 28 per cent de los pacientes diagnosticados antes de los 2 años presentaron complicaciones. Once pacientes recibieron tratamiento con hidroxiurea por crisis vasooclusivas recurrentes con resultado favorable; un paciente fue esplenectomizado y otro recibió un trasplante alogénico de hermano HLA (antígeno de histocompatibilidad) idéntico con excelente resultado. Conclusiones El estudio reproduce lo descrito en la literatura médica de países donde la enfermedad presenta una elevada prevalencia. La morbilidad puede minimizarse mediante el diagnóstico y tratamiento preventivo precoz y una buena asistencia médica. Dada la creciente incidencia creemos aconsejable utilizar pruebas de cribado en población de recién nacidos de raza negra y etnia africana, consejo genético y la instauración de guías de tratamiento para ser utilizadas en centros de asistencia primaria y unidades hospitalarias de urgencias (AU)