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1.
Am J Obstet Gynecol MFM ; 5(12): 101188, 2023 12.
Article in English | MEDLINE | ID: mdl-37839546

ABSTRACT

BACKGROUND: Maternal suboptimal nutrition and high stress levels are associated with adverse fetal and infant neurodevelopment. OBJECTIVE: This study aimed to investigate if structured lifestyle interventions involving a Mediterranean diet or mindfulness-based stress reduction during pregnancy are associated with differences in fetal and neonatal brain development. STUDY DESIGN: This was a secondary analysis of the randomized clinical trial Improving Mothers for a Better Prenatal Care Trial Barcelona that was conducted in Barcelona, Spain, from 2017 to 2020. Participants with singleton pregnancies were randomly allocated into 3 groups, namely Mediterranean diet intervention, stress reduction program, or usual care. Participants in the Mediterranean diet group received monthly individual sessions and free provision of extra-virgin olive oil and walnuts. Pregnant women in the stress reduction group underwent an 8-week mindfulness-based stress reduction program adapted for pregnancy. Magnetic resonance imaging of 90 fetal brains was performed at 36 to 39 weeks of gestation and the Neonatal Neurobehavioral Assessment Scale was completed for 692 newborns at 1 to 3 months. Fetal outcomes were the total brain volume and lobular or regional volumes obtained from a 3-dimensional reconstruction and semiautomatic segmentation of magnetic resonance images. Neonatal outcomes were the 6 clusters scores of the Neonatal Neurobehavioral Assessment Scale. Multiple regression analyses were conducted to assess the association between the interventions and the fetal and neonatal outcomes. RESULTS: When compared with the usual care group, the offspring exposed to a maternal Mediterranean diet had a larger total fetal brain volume (mean, 284.11 cm3; standard deviation, 23.92 cm3 vs 294.01 cm3; standard deviation, 26.29 cm3; P=.04), corpus callosum (mean, 1.16 cm3; standard deviation, 0.19 cm3 vs 1.26 cm3; standard deviation, 0.22 cm3; P=.03), and right frontal lobe (44.20; standard deviation, 4.09 cm3 vs 46.60; standard deviation, 4.69 cm3; P=.02) volumes based on magnetic resonance imaging measures and higher scores in the Neonatal Neurobehavioral Assessment Scale clusters of autonomic stability (mean, 7.4; standard deviation, 0.9 vs 7.6; standard deviation, 0.7; P=.04), social interaction (mean, 7.5; standard deviation, 1.5 vs 7.8; standard deviation, 1.3; P=.03), and range of state (mean, 4.3; standard deviation, 1.3 vs 4.5; standard deviation, 1.0; P=.04). When compared with the usual care group, offspring from the stress reduction group had larger fetal left anterior cingulate gyri volume (1.63; standard deviation, 0.32 m3 vs 1.79; standard deviation, 0.30 cm3; P=.03) based on magnetic resonance imaging and higher scores in the Neonatal Neurobehavioral Assessment Scale for regulation of state (mean, 6.0; standard deviation, 1.8 vs 6.5; standard deviation, 1.5; P<.01). CONCLUSION: Maternal structured lifestyle interventions involving the promotion of a Mediterranean diet or stress reduction during pregnancy were associated with changes in fetal and neonatal brain development.


Subject(s)
Diet, Mediterranean , Mindfulness , Pregnancy Complications , Pregnancy , Humans , Infant, Newborn , Female , Prenatal Care/methods , Brain/diagnostic imaging
2.
Childs Nerv Syst ; 39(9): 2377-2389, 2023 09.
Article in English | MEDLINE | ID: mdl-37493722

ABSTRACT

PURPOSE: Malignant stroke is a life-threatening emergency, with a high mortality rate (1-3). Despite strong evidence showing decreased morbidity and mortality in the adult population, decompressive hemicraniectomy (DCH) has been scarcely reported in the pediatric stroke population, and its indication remains controversial, while it could be a potential lifesaving option. METHODS AND RESULTS: We performed an extensive literature review on pediatric malignant arterial ischemic stroke (pmAIS) and selected 26 articles reporting 97 cases. Gathering the data together, a 67% mortality rate is observed without decompressive therapy, contrasting with a 95.4% survival rate with it. The median modified Rankin score (mRS) is 2.1 after surgery with a mean follow-up of 31.8 months. For the 33% of children who survived without surgery, the mRS is 3 at a mean follow-up of 19 months. As an illustrative case, we report on a 2-year-old girl who presented a cardioembolic right middle cerebral artery stroke with subsequent malignant edema and ongoing cerebral transtentorial herniation in the course of a severe myocarditis requiring ECMO support. A DCH was done 32 h after symptom onset. At the age of 5 years, she exhibits an mRS of 3. CONCLUSION: Pediatric stroke with malignant edema is a severe condition with high mortality rate if left untreated and often long-lasting consequences. DCH might minimize the vicious circle of cerebral swelling, increasing intracranial pressure and brain ischemia. Our literature review underscores DCH as an efficient therapeutic measure management of pmAIS even when performed after a significant delay; however, long-lasting morbidities remain high.


Subject(s)
Decompressive Craniectomy , Ischemic Stroke , Stroke , Adult , Female , Humans , Child , Child, Preschool , Decompressive Craniectomy/methods , Treatment Outcome , Ischemic Stroke/surgery , Stroke/etiology , Stroke/surgery , Infarction, Middle Cerebral Artery/complications , Infarction, Middle Cerebral Artery/surgery , Edema
4.
Rev. bioét. derecho ; (57): 133-151, Mar. 2023.
Article in Spanish | IBECS | ID: ibc-216064

ABSTRACT

MC Mutual es una mutua laboral que en 2021 inició un proyecto de telemedicina (TM), con el propósito de crear un modelo asistencial más sostenible y eficiente. Objetivo: Revisar los aspectos éticos y fortalezas del proyecto. Metodología: Revisión de la documentación existente en MC Mutual relativa a TM, entrevistas con el Director del proyecto y con dos profesionales del equipo de TM, sesión formativa y taller de simulación en el uso de la herramienta de TM. Resultados: Es un proyecto que desde su implementación contempló aspectos éticos esenciales: relación médico-paciente basada en un examen personal y conocimiento suficiente del historial médico del paciente, en la confianza y respeto mutuo; elaboración de consentimientos informados específicos; autonomía profesional para decidir el tipo de consulta más apropiado; disposición de los sistemas de telecomunicación con los requisitos necesarios; medidas de evaluación que preserven la calidad de la atención, seguridad del paciente, el mejor diagnóstico y prácticas de tratamiento posibles. Conclusiones: El proyecto de TM representa una oportunidad de mejora en la atención de los pacientes localizados en los centros asistenciales, haciendo que personal altamente capacitado esté disponible para pacientes y profesionales sanitarios que así lo requieran manteniendo condiciones óptimas de seguridad y calidad en la atención del paciente. Adicionalmente facilita el trabajo colaborativo entre profesionales sanitarios de centros asistenciales y centros de referencia.(AU)


MC Mutual és una mútua laboral que en 2021 va iniciar un projecte de telemedicina (TM), amb el propòsit de crear un model assistencial més sostenible i eficient. Objectiu: Revisar els aspectes ètics i fortaleses del projecte. Metodologia: Revisió de la documentació existent en MC Mutual relativa a TM, entrevistes amb el Director del projecte i amb dos professionals de l'equip de TM, sessió formativa i taller de simulació en l'ús de l'eina de TM. Resultats: És un projecte que des de la seva implementació va contemplar aspectes ètics essencials: relació metge-pacient basada en un examen personal i coneixement suficient de l'historial mèdic del pacient, en la confiançai respecte mutu; elaboració de consentiments informats específics; autonomia professional per a decidir el tipus de consulta més apropiat; disposició dels sistemes de telecomunicació amb els requisits necessaris; mesures d'avaluació que preservin la qualitat de l'atenció, seguretat del pacient, el millor diagnòstic i pràctiques de tractament possibles. Conclusions: El projecte de TM representa una oportunitat de millora en l'atenció dels pacients localitzats en els centres assistencials, fent que personal altament capacitat estigui disponible per a pacients i professionals sanitaris que així ho requereixin mantenint condicions òptimes de seguretat i qualitat en l'atenció del pacient. Addicionalment facilita el treball col·laboratiu entre professionals sanitaris de centres assistencials i centres de referència.Paraules clau: telemedicina; ètica; mútua laboral; projecte; implementació.(AU)


MC Mutual is a mutual insurance company that started a telemedicine (TM) project in 2021 with the purpose of creating a more sustainable and efficient assistential model. Objective: To review the ethical aspects and strengths of the project. Methods: Review of the existing documentation in MC Mutual related to TM, interviews with the project director and with twoprofessionals of the TM team, academic sessions and simulation training in the use of the TM tool. Results: It is a project that, since its implementation, has contemplated essential ethical aspects: physician-patient relationship based on a personal examination and a sufficient knowledge of the patient’s clinical record, mutual trust and respect; preparation of specific informed consents, professional autonomy to decide the most appropriate type of consultation; provision of telecommunication systems withthe necessary requirements; evaluation measures to preserve quality of attention, patient safety, the best possible diagnosis and treatment practices. Conclusions: The TM project represents an opportunity of improvement in the attention of patients located at assistential healthcare centers, making highly qualified personnel available to patients and health professionals who require it, keeping optimal conditions in patient safety and quality of attention. Additionally, it facilitates collaborative work between health workers from healthcare centers and reference centers.(AU)


Subject(s)
Humans , Telemedicine , Physician-Patient Relations , Projects , Ethics, Medical , Informed Consent , Bioethics , Bioethical Issues
5.
J Neurosurg Pediatr ; 29(6): 681-692, 2022 Jun 01.
Article in English | MEDLINE | ID: mdl-35334464

ABSTRACT

OBJECTIVE: Real-time, MRI-guided laser interstitial thermal therapy (MRgLITT) has been reported as a safe and effective technique for the treatment of epileptogenic foci in children and adults. After the recent approval of MRgLITT by the European Medicines Agency in April 2018, the authors began to use it for the treatment of hypothalamic hamartomas (HHs) in pediatric patients with the assistance of a robotic arm. In this study, the authors report their initial experience describing the surgical technique, accuracy of the robotic arm, safety, and efficacy. METHODS: The laser fiber was placed with the assistance of the stereotactic robotic arm. The accuracy of the robotic arm for this procedure was calculated by comparing the intraoperative MRI to the preoperative plan. Common demographic and seizure characteristics of the patients, laser ablation details, complications, and short-term seizure outcomes were prospectively collected. RESULTS: Sixteen procedures (11 first ablations and 5 reablations) were performed in 11 patients between 15 months and 17 years of age (mean age 6.4 years) with drug-resistant epilepsy related to HHs. The mean target point localization error was 1.69 mm. No laser fiber needed to be repositioned. The mean laser power used per procedure was 4.29 W. The trajectory of the laser fiber was accidentally ablated in 2 patients, provoking transient hemiparesis in one of these patients. One patient experienced postoperative somnolence and syndrome of inappropriate antidiuretic hormone secretion, and 2 patients had transient oculomotor (cranial nerve III) palsy. Fifty-four percent of the patients were seizure free after the first ablation (mean follow-up 22 months, range 15-33 months). All 5 patients who experienced an epilepsy relapse underwent a second treatment, and 4 remain seizure free at least 5 months after reablation. CONCLUSIONS: In the authors' experience, the robotic arm was sufficiently accurate for laser fiber insertion, even in very young patients. MRgLITT appears to be an effective treatment for selected cases of HH. MRgLITT for HH is a minimally invasive procedure with appealing safety features, as it allows delivery of energy precisely under real-time MRI control. Nonetheless, complications may occur, especially in voluminous HHs. The amount of delivered energy and the catheter cooling system must be closely monitored during the procedure. A larger sample size and longer follow-up duration are needed to judge the efficacy and safety of MRgLITT for HH more rigorously. This initial experience was very promising.


Subject(s)
Drug Resistant Epilepsy , Epilepsy , Hamartoma , Laser Therapy , Robotics , Adult , Humans , Child , Hamartoma/diagnostic imaging , Hamartoma/surgery , Magnetic Resonance Imaging/methods , Epilepsy/surgery , Laser Therapy/methods , Drug Resistant Epilepsy/diagnostic imaging , Drug Resistant Epilepsy/surgery , Treatment Outcome
6.
Pediatr. catalan ; 81(1): 14-16, ene.-mar. 2021. ilus
Article in Spanish | IBECS | ID: ibc-202629

ABSTRACT

INTRODUCCIÓ: Un cefalohematoma és una col·lecció de sang sota el periosti del crani secundària a un traumatisme del part. Afecta entre l'1% I el 2% dels nadons nascuts per un part vaginal I entre el 3% I el 4% dels nascuts mitjançant un part instrumentat. Solen ser benignes I autolimitats, I es resolen espontàniament al cap d'unes setmanes, però alguns casos poden anar acompanyats d'anèmia, hiperbilirubinèmia o fractura cranial, complicar-se amb una calcificació o, rarament, infectar-se. CAS CLINIC: Nounat a terme de 9 dies de vida amb un cefalohematoma present des del naixement que va augmentar de mida després de tenir febre I infectar-se per Escherichia coli, suposadament per l'extensió d'una bacterièmia, I que es va acompanyar d'una meningitis asèptica (pleocitosi) que es va considerar secundària a una osteomielitis per contigüitat. El pacient es va tractar amb antibiòtics I desbridament quirúrgic, I no va tenir seqüeles. COMENTARIS: Cal tenir present que els cefalohematomes, tot I que habitualment tenen un curs autolimitat I una bona evolució, són un lloc potencial d'infecció, I que cal sospitar I descartar la infecció en un pacient amb febre I l'existència prèvia d'un cefalohematoma. S'han descrit casos de meningitis associats a cefalohematoma, però, fins on sabem, només un de meningitis asèptica com el descrit I que es va considerar, a diferència del que presentem, secundària a un retard en la recollida del líquid cefaloraquidi després d'iniciada l'antibioteràpia


INTRODUCCIÓN: Un cefalohematoma es una colección de sangre debajo del periostio del cráneo secundaria a un traumatismo del parto. Afecta a entre el 1% y el 2% de los neonatos nacidos mediante un parto vaginal y a entre el 3% y el 4% de los nacidos mediante un parto instrumentado. Suelen ser benignos, autolimitados y resolverse espontáneamente en semanas, pero en algunos casos se pueden acompañar de anemia, hiperbilirrubinemia o fractura craneal, complicarse con una calcificación o, raramente, infectarse. CASO CLÍNICO: Recién nacido a término de 9 días de vida con un cefalohematoma presente desde el nacimiento que aumentó de tamaño tres haber tenido fiebre e infectarse por Escherichia coli, supuestamente por la extensión de una bacteriemia, y que se acompañó de una meningitis aséptica (pleocitosis) que se consideró secundaria a una osteomielitis por contigüidad. El paciente se trató con antibióticos y desbridamiento quirúrgico y no tuvo secuelas. COMENTARIOS: Debemos tener en cuenta que los cefalohematomas, a pesar de que habitualmente tienen un curso autolimitado y una buena evolución, son un lugar potencial de infección, y que hay que sospechar y descartar la infección en un paciente con fiebre y la existencia de un cefalohematoma previo. Se han descrito algunos casos de meningitis asociados a cefalohematoma, pero hasta donde sabemos solo uno de meningitis aséptica como el descrito y que se consideró, a diferencia del que presentamos, secundaria a un retraso en la recogida del líquido cefalorraquídeo tras el inicio de la antibioterapia


INTRODUCTION: A cephalohematoma is a collection of blood below the periosteum of the skull due to birth trauma. It affects 1-2% of spontaneous vaginal deliveries and 3-4% of instrument-assisted deliveries. It is usually a self-limiting, benign condition which resorbs within weeks. A small proportion of cases can be accompanied by anemia, hyperbilirubinemia or a skull fracture, or be complicated by calcification or rarely by infection. CASE REPORT: 9-day-old full term neonate with a cephalohematoma present at birth that enlarged after the cephalohematoma got infected by Escherichia coli during a septic episode. Aseptic meningitis (pleocytosis) was assumed to be due to contiguous osteomyelitis. The patient was successfully treated with antibiotics and surgical debridement and showed no sequelae. COMMENTS: Clinicians should be aware that even though cephalohematomas are usually a benign, self-limiting condition, they are a potential site of infection. Infection must be suspected and ruled out in a patient with fever and a pre-existing cephalohematoma. A few cases of meningitis accompanying an infected cephalohematoma have been reported, although, to our knowledge, there is only one report of an associated aseptic meningitis. In contrast to the patient we present, in the other reported case lumbar puncture was performed 24 hours after onset of antibiotic treatment, which was suggested as the reason for the cerebrospinal fluid to be sterile


Subject(s)
Humans , Male , Infant, Newborn , Hematoma, Epidural, Cranial/diagnostic imaging , Hematoma, Epidural, Cranial/therapy , Meningitis, Escherichia coli/etiology , Escherichia coli Infections/etiology , Obstetrical Forceps/adverse effects , Meningitis, Escherichia coli/drug therapy , Escherichia coli Infections/drug therapy , Hematoma, Epidural, Cranial/etiology , Anti-Bacterial Agents/therapeutic use , Debridement/methods , Skull/diagnostic imaging , Tomography, X-Ray Computed , Suction/methods , Cefotaxime/therapeutic use
7.
Arch. prev. riesgos labor. (Ed. impr.) ; 23(2): 182-195, abr.-jun. 2020. tab, graf
Article in Spanish | IBECS | ID: ibc-194804

ABSTRACT

OBJETIVO: Describir la evolución temporal (2009-2018) de la incidencia de la incapacidad temporal por contingencia común (ITCC) según tramos de duración en España. MÉTODOS: Se consideraron casos de ITCC de la población afiliada de una mutua laboral. Se obtuvo la incidencia global de la incapacidad temporal por ITCC y por tramos de duración. Se realizó un estudio ecológico de series temporales considerando un punto de inflexión en 2013. Se calculó el porcentaje de cambio anual e intervalo de confianza del 95%. Los análisis se estratificaron por edad y sexo. RESULTADOS: La incidencia global pasó de 35,3 casos por cada 100 trabajadores-año en 2009 a 25,2 en 2013. A partir del 2014 se observa un ascenso sostenido de la incidencia de ITCC, finalizando el 2018 con 34,1 casos por cada 100 trabajadores-año. La incidencia global está determinada fundamentalmente por procesos menores a 16 días en población joven. El descenso en 2009-2013 se produjo en todos los tramos de duración, en especial en 4 a 15 (PCA = -11,2; IC 95% = (-14,1 a -8,2)) y más de 90 días (PCA = -9,4; IC 95% = (-15,5 a -2,8)), principalmente en jóvenes. El ascenso en 2013-2018 se observó en todos los tramos, siendo el incremento más significativo en tramos de 1-3 días (trabajadores de menor edad: PCA = 18,9; IC 95% = (14,8 a 23,2)) y en más de 90 días (principalmente en mayores). CONCLUSIONES: La descripción temporal de la incidencia de ITCC por tramos de duración ofrece una información detallada de la incapacidad temporal


OBJECTIVE: We describe time trend incidence (2009-2018) of non-work related Sickness Absence (SA) segmented by duration of episodes in Spain. METHODS: We used SA cases from a health insurance company ("mutua") in Spain. Overall non-work related SA incidence and incidence by duration of episodes (1-3 days, 4-15 days, 16-30 days, 31-90 days and> 90 days) were obtained. A time series ecological study was carried out with an inflection point in 2013. The annual percentage of change and 95% confidence interval were obtained. The analyses were stratified by age and sex. RESULTS: Overall incidence went from 35.3 cases per 100 workers-years in 2009 to 25.2 in 2013. From 2014, there is a sustained rise in the incidence of ITCC, ending 2018 with 34.1 cases per 100 workers-years. The overall incidence is determined mainly by processes less than 16 days in young population. The decrease in 2009-2013 occurred in all the duration segments, especially in 4 to 15 (APC = -11,2; 95% CI = (-14,1 a -8,2)) and more than 90 days (APC = -9,4; 95% CI = (-15,5 a -2,8)), mainly in young people. The rise in 2013-2018 was observed in all the segments, with the largest significant increase in sections of 1-3 days (younger workers: APC = 18,9; 95% CI = (14,8 a 23,2)) and in more than 90 days (mainly in older ones). Time trend of SA showed similar pattern in both sexes. CONCLUSIONS:Time trend analysis of SA incidence by duration segments offers a detailed information of SA. These results are useful for professionals in the prevention and management of SA


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Sick Leave/statistics & numerical data , Spatio-Temporal Analysis , Incidence
8.
Arch Prev Riesgos Labor ; 23(2): 182-195, 2020 04 15.
Article in Spanish | MEDLINE | ID: mdl-32320543

ABSTRACT

OBJECTIVE: We describe time trend incidence (2009-2018) of non-work related Sickness Absence(SA) segmented by duration of episodes in Spain. METHODS: We used SA cases from a health insurance company ("mutua") in Spain. Overall non-work related SA incidence and incidence by duration of episodes (1-3 days, 4-15 days, 16-30 days, 31-90 days and> 90 days) were obtained. A time series ecological study was carried out with an inflection point in 2013. The annual percentage of change and 95% confidence interval were obtained. The analyses were stratified by age and sex. RESULTS: Overall incidence went from 35.3 cases per 100 workers-years in 2009 to 25.2 in 2013. From 2014, there is a sustained rise in the incidence of ITCC, ending 2018 with 34.1 cases per 100 workers-years. The overall incidence is determined mainly by processes less than 16 days in young population. The decrease in 2009-2013 occurred in all the duration segments, especially in 4 to 15 (APC=-11,2; 95% CI=(-14,1 a -8,2)) and more than 90 days (APC =-9,4; 95% CI =(-15,5 a -2,8)), mainly in young people. The rise in 2013-2018 was observed in all the segments, with the largest significant increase in sections of 1-3 days(younger workers: APC =18,9; 95% CI =(14,8 a 23,2)) and in more than 90 days (mainly in older ones). Time trend of SA showed similar pattern in both sexes. CONCLUSIONS: Time trend analysis of SA incidence by duration segments offers a detailed information of SA. These results are useful for professionals in the prevention and management of SA.


OBJETIVO: Describir la evolución temporal (2009-2018) de la incidencia de la incapacidad temporal por contingencia común (ITCC) según tramos de duración en España. MÉTODOS: Se consideraron casos de ITCC de la población afiliada de una mutua laboral. Se obtuvo la incidencia global de la incapacidad temporal por ITCC y por tramos de duración (1-3 días, 4-15 días, 16-30 días, 31-90 días y >90 días). Se realizó un estudio ecológico de series temporales considerando un punto de inflexión en 2013. Se calculó el porcentaje de cambio anual e intervalo de confianza del 95%. Los análisis se estratificaron por edad y sexo. RESULTADOS: La incidencia global pasó de 35,3 casos por cada 100 trabajadores-año en 2009 a 25,2 en 2013. A partir del 2014 se observa un ascenso sostenido de la incidencia de ITCC, finalizando el 2018 con 34,1 casos por cada 100 trabajadores-año. La incidencia global está determinada fundamentalmente por procesos menores a 16 días en población joven. El descenso en 2009-2013 se produjo en todos los tramos de duración, en especial en 4 a 15 (PCA=-11,2; IC 95%=(-14,1 a -8,2)) y más de 90 días (PCA=-9,4; IC 95%=(-15,5 a -2,8)), principalmente en jóvenes. El ascenso en 2013-2018 se observó en todos los tramos, siendo el incremento más significativo en tramos de 1-3 días (trabajadores de menor edad: PCA=18,9; IC 95%=(14,8 a 23,2)) y en más de 90 días (principalmente en mayores). La evolución de la ITCC presentó un patrón similar en ambos sexos. CONCLUSIONES: La descripción temporal de la incidencia de ITCC por tramos de duración ofrece una información detallada de la incapacidad temporal. Estos resultados son útiles para profesionales de la prevención y gestión de la ITCC.


Subject(s)
Sick Leave/statistics & numerical data , Adolescent , Adult , Aged , Female , Humans , Incidence , Male , Middle Aged , Spain/epidemiology , Time , Time Factors
9.
Pediatr Radiol ; 50(3): 415-430, 2020 03.
Article in English | MEDLINE | ID: mdl-32065272

ABSTRACT

Autoinflammatory diseases constitute a family of disorders defined by aberrant stimulation of inflammatory pathways without involving antigen-directed autoimmunity. They may be divided into monogenic and polygenic types. Monogenic autoinflammatory syndromes are those with identified genetic mutations, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency or hyperimmunoglobulin D syndrome, cryopyrin-associated periodic fever syndromes (CAPS), pyogenic arthritis pyoderma gangrenosum and acne (PAPA) syndrome, interleukin-10 and interleukin-10 receptor deficiencies, adenosine deaminase 2 deficiency and pediatric sarcoidosis. Those without an identified genetic mutation are known as polygenic and include systemic-onset juvenile idiopathic arthritis, idiopathic recurrent acute pericarditis, Behçet syndrome, chronic recurrent multifocal osteomyelitis and inflammatory bowel disease among others. Autoinflammatory disorders are defined by repeating episodes or persistent fever, rash, serositis, lymphadenopathy, arthritis and increased acute phase reactants, and thus may mimic infections clinically. Most monogenic autoinflammatory syndromes present in childhood. However, because of their infrequency, diverse and nonspecific presentation, and the relatively new genetic recognition, diagnosis is usually delayed. In this article, which is Part 1 of a two-part series, the authors update monogenic autoinflammatory diseases in children with special emphasis on imaging features that may help establish the correct diagnosis.


Subject(s)
Diagnostic Imaging/methods , Hereditary Autoinflammatory Diseases/diagnostic imaging , Hereditary Autoinflammatory Diseases/genetics , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Syndrome
10.
Pediatr Radiol ; 50(3): 431-444, 2020 03.
Article in English | MEDLINE | ID: mdl-32065273

ABSTRACT

Autoinflammatory diseases are a family of disorders characterized by aberrant stimulation of inflammatory pathways without involvement of antigen-directed autoimmunity. They can be further divided in monogenic and polygenic types. Those without an identified genetic mutation are known as polygenic and include systemic-onset juvenile idiopathic arthritis, idiopathic recurrent acute pericarditis, Behçet syndrome, chronic recurrent multifocal osteomyelitis and inflammatory bowel disease among others. Autoinflammatory diseases are characterized by recurrent flares or persistent systemic inflammation and fever, as well as lymphadenopathy and cutaneous, abdominal, thoracic and articular symptoms. Although these syndromes can mimic infections clinically, the inflammatory lesions in autoinflammatory disorders are aseptic. However, because of their infrequency, varied and nonspecific presentation, and the new genetic identification, diagnosis is usually delayed. In this article, which is Part 2 of a two-part series, the authors review the main polygenic autoinflammatory diseases that can be seen in childhood, with special emphasis wherever applicable on imaging features that may help establish the correct diagnosis. However, the major role of imaging is to delineate organ involvement and disease extent.


Subject(s)
Diagnostic Imaging/methods , Hereditary Autoinflammatory Diseases/diagnostic imaging , Hereditary Autoinflammatory Diseases/genetics , Multifactorial Inheritance/genetics , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Syndrome
11.
Radiographics ; 39(1): 229-250, 2019.
Article in English | MEDLINE | ID: mdl-30620697

ABSTRACT

Systemic connective tissue disorders are characterized by the presence of autoantibodies and multiorgan system involvement. Juvenile systemic lupus erythematosus with or without associated antiphospholipid syndrome; juvenile dermatomyositis; sclerodermiform syndromes, including systemic and localized sclerodermas and eosinophilic fasciitis; mixed connective tissue disease; and Sjögren syndrome are the disorders that affect children most frequently. Diagnosis is difficult, because the clinical presentation of patients is diverse, from mild to severe disease. In addition, all organs may be affected. However, a variety of imaging techniques are now available to investigate rheumatic disease in children. These imaging modalities offer the potential for earlier diagnosis and improved assessment of therapeutic response. This article reviews the main connective tissue disorders that affect children, highlighting their key imaging features on images acquired with different diagnostic imaging modalities and correlating these features with clinical and pathologic findings, when available. ©RSNA, 2019.


Subject(s)
Connective Tissue Diseases/diagnostic imaging , Magnetic Resonance Imaging , Tomography, X-Ray Computed , Adolescent , Brain/diagnostic imaging , Child , Dermatomyositis , Female , Humans , Lung/diagnostic imaging , Lupus Erythematosus, Systemic/diagnostic imaging , Magnetic Resonance Imaging/methods , Male , Mixed Connective Tissue Disease/diagnostic imaging , Scleroderma, Localized/diagnostic imaging , Sjogren's Syndrome/diagnostic imaging
12.
Arch. prev. riesgos labor. (Ed. impr.) ; 21(4): 203-205, oct.-dic. 2018. tab, graf
Article in Spanish | IBECS | ID: ibc-177485

ABSTRACT

Introducción: Se describe la utilidad de realizar un análisis de la incidencia de incapacidad temporal (IT) segmentado según la duración de los episodios, en comparación con el análisis que considera la incidencia global de la IT. Métodos: Se considera un ejemplo utilizando datos de una mutua en España durante 2011 (230.332 episodios, 752.906 trabajadores) y la incapacidad temporal por contingencia común (ITcc). Comparamos la incidencia de ITcc global y la segmentada por la duración de los episodios: corta (≤ 15 días), media (16-30 y 31-90) y larga (> 90 días). Los análisis se realizaron también según edad, como ejemplo de una de las múltiples variables que afectan a la incidencia de la IT. Resultados: La incidencia global de ITcc fue del 30,6%, mostrando una disminución con la edad (36,4% en <25 años frente a 29,3% en ≥55 años (RR = 1,24, IC del 95% = 1,22 - 1,27)). El análisis de la incidencia de ITcc segmentado por la duración de los episodios, permite obtener resultados más específicos: 1) la incidencia de corta duración es la más alta respecto al resto de segmentos (20,1% en la corta frente a 2,8% en larga duración (RR = 7,29, IC 95% = 7,19 - 7,40); 2) el exceso global observado en jóvenes se produce mayoritariamente por los episodios cortos (RR = 1,98, IC del 95% = 1,93-2,03, en <25 años frente a ≥55 años), y 3) la incidencia de larga duración cambia este patrón, siendo más frecuente en ≥55 años (5,2%) en relación a jóvenes (1,6%)(RR = 0,31, IC 95% = 0,29-0,34). Conclusiones: El análisis de la incidencia de IT segmentada por duración ofrece una aproximación más precisa que la obtenida del análisis global


Background: We describe the usefulness of performing an analysis of sickness absence (SA) incidence, segmented by the duration of episodes, in comparison with the more common analysis that considers the overall incidence of SA without segmentation. Methods: We used data from a health insurance company ("mutual") in Spain during 2011 (230,332 episodes, 752,906 workers) and non-work related SA as a case study. We compared the overall incidence of SA and incidence segmented by duration of episodes: short (≤ 15 days), medium (16-30 and 31-90 days) and long (> 90 days). The analyses were also performed by age, as an example of one of the multiple variables that affect SA incidence. Results: The overall incidence of SA was 30.6%, and declined steadily with increasing age. When SA incidence was analyzed by duration, we observed that: 1) the incidence of the episodes of short duration is the highest; 2) the overall excess observed in younger workers (<25 years) is driven mainly by short duration and 3) the pattern for long-term SA incidence was reversed, being more frequent among those ≥55 years of age relative to the youngest. Conclusions: Examining SA incidence by duration is more informative than relying on overall incidence of SA


Subject(s)
Humans , Young Adult , Adult , Middle Aged , Professional Impairment/statistics & numerical data , Insurance, Disability/trends , Absenteeism , Workplace/standards , Workplace/organization & administration
13.
Orphanet J Rare Dis ; 13(1): 188, 2018 10 26.
Article in English | MEDLINE | ID: mdl-30367646

ABSTRACT

BACKGROUND: Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the microstructural integrity of WM pathways across the whole brain in a cohort of paediatric ETPKU patients compared with healthy controls (HCs), by collecting DTI-MRI (diffusion tensor magnetic resonance imaging) data and diffusion values (mean diffusivity (MD), radial diffusivity (RD) and fractional anisotropy (FA)). METHODS: DTI-MRI data and diffusion values (MD, RD, FA) from WM tracts across the whole brain were analized using Tract Based Spatial Statistics (TBSS), in 15 paediatrics TPKU patients (median age: 12 years) and compared with 11 HCs. Areas showing abnormal values in the patient group were correlated (Pearson) with age, lifetime Phe values, last year median and mean Phe, concurrent Phe values in plasma, urine neurotransmitters status biomarkers, and with a processing speed task. RESULTS: ETPKU showed bilaterally decreased MD values compared with HCs in the body and splenium of the corpus callosum, superior longitudinal fasciculus, corona radiata and in the posterior limb of the internal capsule. RD values followed a similar pattern, although decreased RD values in PKU patients were also found in the anterior limb of the internal capsule and in the cerebral peduncle. Decreased MD and RD values within the aforementioned regions had significant negative correlations with age, last year median and mean Phe and concurrent Phe values. No correlations were found with monoamines in urine or processing speed task. CONCLUSIONS: ETPKU patients showed MD and RD values significantly decreased across the whole brain when compared with HCs, and this damage was associated with high Phe values and the age of patients. Despite this microstructural damage, no affectation in processing speed was observed in patients with good metabolic control. DTI-MRI sequences could be used as a technique to quantify WM damage that is difficult to be detect in T1 or T2-weighted images, but also to quantify damage of WM through the follow up of patients with poor metabolic control in prospective studies.


Subject(s)
Phenylketonurias/diet therapy , Phenylketonurias/pathology , White Matter/pathology , Adolescent , Case-Control Studies , Child , Cohort Studies , Female , Humans , Male , Phenylketonurias/diagnostic imaging , White Matter/diagnostic imaging
14.
Arch Prev Riesgos Labor ; 21(4): 203-205, 2018.
Article in Spanish | MEDLINE | ID: mdl-30372604

ABSTRACT

BACKGROUND: We describe the usefulness of performing an analysis of sickness absence (SA) incidence, segmented by the duration of episodes, in comparison with the more common analysis that considers the overall incidence of SA without segmentation. METHODS: We used data from a health insurance company ("mutua") in Spain during 2011 (230,332 episodes, 752,906 workers) and non-work related SA as a case study. We compared the overall incidence of SA and incidence segmented by duration of episodes: short (≤ 15 days), medium (16-30 and 31-90 days) and long (> 90 days). The analyses were also performed by age, as an example of one of the multiple variables that affect SA incidence. RESULTS: The overall incidence of SA was 30.6%, and declined steadily with increasing age. When SA incidence was analyzed by duration, we observed that: 1) the incidence of the episodes of short duration is the highest; 2) the overall excess observed in younger workers (<25 years) is driven mainly by short duration and 3) the pattern for long-term SA incidence was reversed, being more frequent among those ≥55 years of age relative to the youngest. CONCLUSIONS: Examining SA incidence by duration is more informative than relying on overall incidence of SA.


INTRODUCCIÓN: Se describe la utilidad de realizar un análisis de la incidencia de incapacidad temporal (IT) segmentado según la duración de los episodios, en comparación con el análisis que considera la incidencia global de la IT. MÉTODOS: Se considera un ejemplo utilizando datos de una mutua en España durante 2011 (230.332 episodios, 752.906 trabajadores) y la incapacidad temporal por contingencia común (ITcc). Comparamos la incidencia de ITcc global y la segmentada por la duración de los episodios: corta (≤ 15 días), media (16-30 y 31-90) y larga (> 90 días). Los análisis se realizaron también según edad, como ejemplo de una de las múltiples variables que afectan a la incidencia de la IT. RESULTADOS: La incidencia global de ITcc fue del 30,6%, mostrando una disminución con la edad (36,4% en <25 años frente a 29,3% en ≥55 años (RR = 1,24, IC del 95% = 1,22 - 1,27)). El análisis de la incidencia de ITcc segmentado por la duración de los episodios, permite obtener resultados más específicos: 1) la incidencia de corta duración es la más alta respecto al resto de segmentos (20,1% en la corta frente a 2,8% en larga duración (RR = 7,29, IC 95% = 7,19 ­ 7,40); 2) el exceso global observado en jóvenes se produce mayoritariamente por los episodios cortos (RR = 1,98, IC del 95% = 1,93-2,03, en <25 años frente a ≥55 años), y 3) la incidencia de larga duración cambia este patrón, siendo más frecuente en ≥55 años (5,2%) en relación a jóvenes (1,6%)(RR = 0,31, IC 95% = 0,29-0,34). CONCLUSIONES: El análisis de la incidencia de IT segmentada por duración ofrece una aproximación más precisa que la obtenida del análisis global.

15.
Radiographics ; 38(5): 1552-1575, 2018.
Article in English | MEDLINE | ID: mdl-30096049

ABSTRACT

Parotid gland lesions in children can be divided into benign or malignant. The age of the patient helps narrow the differential diagnosis, with vascular and congenital lesions being more frequent in the 1st year of life, while solid tumors are more frequent in older children. Inflammatory disease usually has rapid onset in comparison with that of neoplastic or congenital processes, which have more gradual clinical evolution. Currently, multiple imaging techniques are available to study the parotid region, such as US, CT, and MRI. However, it is still a challenge to distinguish nonmalignant lesions from malignant ones. US is the first-line diagnostic approach in children to characterize the morphology and vascularity of these lesions. CT in children may be indicated for evaluation of abscesses or sialolithiasis. MRI is the imaging modality of choice for investigating the nature of the lesion and its extent. In addition to complete and detailed clinical information, knowledge of parotid gland anatomy and characteristic radiologic features of parotid disorders is essential for optimal radiologic evaluation and avoiding unnecessary interventional diagnostic procedures or treatment. This article illustrates a variety of entities (congenital, inflammatory, vascular, neoplastic) that can occur in the parotid gland, highlighting the most frequent radiologic patterns of manifestation and correlating them with clinical, surgical, and pathologic findings. ©RSNA, 2018.


Subject(s)
Parotid Diseases/diagnostic imaging , Parotid Gland/abnormalities , Parotid Gland/diagnostic imaging , Child , Diagnosis, Differential , Humans , Parotid Diseases/congenital , Parotid Diseases/surgery
16.
Rev. neurol. (Ed. impr.) ; 66(7): 237-240, 1 abr., 2018. ilus, tab
Article in Spanish | IBECS | ID: ibc-173309

ABSTRACT

Introducción. La adrenoleucodistrofia ligada al X (ALD-X) es la enfermedad peroxisómica más frecuente. Se debe a una mutación en el gen ABCD1. La pérdida de la función de ABCD1 provoca una betaoxidación inefectiva de los ácidos grasos de cadena muy larga, lo que provoca la acumulación de estos ácidos grasos. La alteración típica en la neuroimagen en la forma cerebral es la desmielinización periventricular simétrica y de localización posterior. Caso clínico. Niño de 10 años, con hemiparesia espástica derecha y deterioro cognitivo subagudo. La resonancia magnética cerebral mostró afectación asimétrica de la sustancia blanca en la región frontoparietotemporal izquierda, y en la tomografía axial computarizada se visualizaban calcificaciones. Se confirmó ALD-X mediante la elevación de los niveles de ácidos grasos de cadena muy larga, y se encontró una variante patogénica en el gen ABCD1. Conclusiones. La desmielinización asimétrica con calcificaciones raramente se ha descrito en la ALD-X, y estos hallazgos podrían retrasar el diagnóstico. Esta presentación excepcional se debería considerar siempre en niños con inicio subagudo de síntomas motores y regresión cognitiva o del comportamiento


Introduction. X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It is due to a mutation in the ABCD1 gene. The loss of functioning of ABCD1 triggers ineffective beta oxidation of very long-chain fatty acids, which gives rise to an accumulation of these fatty acids. The typical alteration revealed in neuroimaging scans in the cerebral form is symmetrical periventricular demyelination with posterior location. Case report. We report the case of a 10-year-old boy with right spastic hemiparesis and subacute cognitive impairment. Magnetic resonance imaging of the brain showed symmetrical involvement of the white matter in the left frontoparietotemporal region, and calcifications were observed in the computerised axial tomography scan. X-ALD was confirmed by means of the elevated levels of very long-chain fatty acids, and a pathogenic variant was found in the ABCD1 gene. Conclusions. Symmetrical demyelination with calcifications has rarely been reported in X-ALD, and these findings could delay diagnosis. This exceptional presentation should always be taken into consideration in children with subacute onset of motor symptoms and cognitive or behavioural regression


Subject(s)
Humans , Male , Child , Adrenoleukodystrophy/diagnostic imaging , Adrenoleukodystrophy/drug therapy , Paresis/diagnostic imaging , Cognitive Dysfunction/diagnostic imaging , Dysarthria/diagnosis , Cerebrum/diagnostic imaging , Magnetic Resonance Imaging/methods , Adrenal Cortex/diagnostic imaging
17.
Food Funct ; 9(4): 2290-2299, 2018 Apr 25.
Article in English | MEDLINE | ID: mdl-29560978

ABSTRACT

Non-small cell lung cancer (NSCLC) accounts for most cases of lung cancer. The peel oil of mandarin Citrus reticulata Blanco cv. Dancy (MPO) is a natural source of essential oils and carotenoids. Volatile and non-volatile lipid compounds were characterized by chromatographic methods. We demonstrate that MPO causes a dose-dependent growth inhibition of NSCLC model cells (A549) in culture and tumour growth in vivo of the same cells implanted in nude mice fed with MPO-supplemented diets. MPO induced cell cycle arrest mainly at the G0/G1 phase and reduced the amount of membrane-bound Ras protein along with apoptosis induction. No toxicological effect was found in liver parameters analysed in treated mice and histopathological analyses of their organs did not show any morphological changes. In conclusion, the data suggest that MPO possesses significant antitumor activity without causing systemic toxicity, proposing it as a dietary supplement that may be helpful in cancer prevention.


Subject(s)
Carcinoma, Non-Small-Cell Lung/drug therapy , Cell Proliferation/drug effects , Citrus/chemistry , Lung Neoplasms/drug therapy , Oils, Volatile/administration & dosage , Plant Oils/administration & dosage , Animals , Apoptosis/drug effects , Carcinoma, Non-Small-Cell Lung/physiopathology , Cell Cycle/drug effects , Cell Line, Tumor , Female , Humans , Lung Neoplasms/physiopathology , Mice , Mice, Nude , Oils, Volatile/chemistry , Plant Oils/chemistry
18.
Clin Toxicol (Phila) ; 56(8): 795-797, 2018 08.
Article in English | MEDLINE | ID: mdl-29343133

ABSTRACT

INTRODUCTION: Prenatal methamphetamine exposure is related to prematurity, fetal growth restriction, neurobehavioral effects and long-term motor and cognitive sequelae. PATIENT PRESENTATION: We report the case of a newborn from a Filipina with no prenatal care with a complex brain malformation. Methamphetamine was identified in maternal and neonatal urine and in maternal hair, raising our suspicion of methamphetamine as a cause of this malformation. DISCUSSION: Methamphetamine abuse is a growing problem worldwide. There are little data on its effect on the fetus. To our knowledge, no fetal brain abnormalities have been associated with its use. In our case, the lack of antenatal control does not allow us to date when this malformation appeared. CONCLUSION: The aim of our report is to generate awareness of the possible association between methamphetamine abuse during pregnancy and central nervous system malformations.


Subject(s)
Amphetamine-Related Disorders/complications , Central Nervous System Stimulants/poisoning , Central Nervous System Vascular Malformations/etiology , Fetal Development/drug effects , Methamphetamine/poisoning , Pregnancy Complications/etiology , Pregnancy Complications/physiopathology , Adult , Amphetamine-Related Disorders/physiopathology , Female , Hair/chemistry , Humans , Infant, Newborn , Methamphetamine/urine , Pregnancy , Prenatal Exposure Delayed Effects
19.
Lipids ; 52(1): 37-49, 2017 01.
Article in English | MEDLINE | ID: mdl-27905068

ABSTRACT

The essential oils (EOs) of Lippia alba, an herb extensively used as a folk medicine in Latin America, are today promoted as an effective means of eliminating problems caused by hyperlipemia. We hypothesized that L.alba EOs inhibited cholesterol and triacylglycerols synthesis and decreased the intracellular depots of those lipids (lipid droplets), mechanisms involving the induction of a hypolipidemic response. Our aim was, therefore, to evaluate the hypolipogenic capability of the EOs of four L. alba chemotypes on liver-derived (HepG2) and non-liver (A549) human cell lines and to identify the potential biochemical targets of those chemotypes, particularly within the mevalonate pathway (MP). [14C]Acetate was used as radioactive precursor for assays. Lipid analyses were performed by thin-layer and capillary gas chromatography, lipid droplets analyzed by fluorescence microscopy, and HMGCR levels determined by Western blot. In both cell lines, all four chemotypes exerted hypocholesterogenic effects within a concentration range of 3.2-32 µg/mL. Nonsaponifiable lipids manifested a decrease in incorporation of [14C]acetate into squalene, lanosterol, lathosterol, and cholesterol, but not into ubiquinone, thus suggesting an inhibition of enzymes in the MP downstream from farnesyl pyrophosphate. The tagetenone chemotype, the most efficacious hypocholesterogenic L. alba EO, lowered HMGCR protein levels; inhibited triacylglycerols, cholesteryl esters, and phospholipids synthesis; and diminished lipid droplets in size and volume. These results revealed that L. alba EOs inhibited different lipogenic pathways and such lipid-lowering effects could prove essential to prevent cardiovascular diseases.


Subject(s)
Biosynthetic Pathways/drug effects , Lippia/chemistry , Mevalonic Acid/metabolism , Oils, Volatile/pharmacology , A549 Cells , Cell Line , Cholesterol/biosynthesis , Hep G2 Cells , Humans , Plant Oils/pharmacology , Triglycerides/biosynthesis
20.
Rev. bioét. derecho ; (38): 131-147, 2016.
Article in Spanish | IBECS | ID: ibc-158219

ABSTRACT

El presente artículo realiza una reflexión sobre los conflictos bioéticos que surgen en la relación médico paciente cuando un trabajador presenta un problema de salud que deriva en una baja laboral. Se limita a aquellos casos de origen común, es decir, cuando el problema de salud no tiene una relación directa con el trabajo. Asimismo se centra específicamente en los trabajadores por cuenta ajena cuyo régimen integra la seguridad social y reciben una prestación económica mientras dura el proceso a través de la Mutua Colaboradora con la Seguridad Social (en adelante Mutua) a la que su empresa este afiliado. Aunque el trabajador acude al médico por un problema de salud, la relación no es únicamente asistencial, sino que también incluye una valoración de la capacidad laboral, ya que en caso de verse disminuida, se emitirá un certificado de incapacidad temporal. A través de dicho certificado se activan mecanismos que ponen en marcha la participación de otros sanitarios, en éste caso de la Mutua, con el objetivo de gestionar dicho proceso. Por tanto, hablamos de una relación más amplia, compleja, que va más allá de la asistencia sanitaria, y que en ocasiones puede generar conflicto de intereses (AU)


This paper reflects on the bioethical conflicts derived from the physician-patient relation when a worker presents a health condition that results in a work leave. The paper only deals with those cases that have a common origin, i.e., the health condition is not directly related to the individual’s work activity. Furthermore, it is specifically focused on employed workers whose labor regime is part of the social welfare system and receives an economic benefit for the duration of the process through a health insurance company (hereinafter, Mutua), which the worker’s firm is affiliated to. Although the worker visits the doctor due to a health condition, the relation is not limited only to receiving healthcare, but also includes an assessment of the labor capability, because, in the event that this is undermined, a temporary certificate of incapacity will be issued. This certificate will activate some mechanisms that result in the involvement of other entities related to the healthcare system, in this case the Mutua, that will manage said process. Therefore, this relation is broader and more complex and goes beyond mere healthcarerelated matters and, sometimes, may give rise to conflicts of interests (AU)


Subject(s)
Humans , Sick Leave , Social Security/ethics , Physician-Patient Relations/ethics , Bioethical Issues , Severity of Illness Index , Return to Work/ethics
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