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1.
Arch Orthop Trauma Surg ; 144(8): 3337-3342, 2024 Aug.
Article de Anglais | MEDLINE | ID: mdl-39105840

RÉSUMÉ

BACKGROUND: Developmental Dysplasia of the Hip (DDH) is a condition affecting hip joint development in children, presenting multiple manifestations. Immobilization methods to ensure hip concentricity, such as the human position and modified Lange position, vary in effectiveness and risks, especially avascular necrosis. The purpose of this study was to identify whether closed reduction (CR), with two different immobilization techniques, is effective in avoiding complications such as residual hip dysplasia (RHD), re-dislocation, and Avascular Necrosis (AVN). METHODS: A total of 66 patients with DDH (84 hips) were treated with two different techniques of immobilization (groups A and B); the mean age at the time of reduction was 8 (6-13) months. The rates of RHD, Re-dislocation, and AVN were determined with a minimum follow-up of 48 months in both techniques. RESULTS: The Chi-square analysis conducted across the study groups unveiled that patients in Group B demonstrated a protective effect against AVN compared to those in Group A (OR: 0.248, 95% CI: 0.072-0.847, p = 0.026). However, no statistically significant differences were found between the groups concerning RHD (p = 0.563) and re-dislocation (p = 0.909). CONCLUSIONS: After the initial Human Position immobilization, the second cast with the modified Lange "second position" demonstrated a protective effect compared with maintaining the Human Position immobilization throughout the immobilization period, reducing the likelihood of AVN development in patients undergoing closed reduction for developmental dysplasia of the hip.


Sujet(s)
Dysplasie développementale de hanche , Nécrose de la tête fémorale , Humains , Mâle , Femelle , Nécrose de la tête fémorale/prévention et contrôle , Nécrose de la tête fémorale/étiologie , Dysplasie développementale de hanche/chirurgie , Nourrisson , Positionnement du patient/méthodes , Complications postopératoires/prévention et contrôle , Études rétrospectives , Luxation congénitale de la hanche/thérapie
2.
J Pediatr Genet ; 13(3): 167-174, 2024 Sep.
Article de Anglais | MEDLINE | ID: mdl-39086440

RÉSUMÉ

Spondylocarpotarsal synostosis syndrome (SCT) is a very rare skeletal dysplasia characterized by vertebral, carpal, and tarsal fusion; growth retardation; and mild dysmorphic facial features. Variants in FLNB, MYH3, and RFLNA have been implicated in this dysplasia. We report the clinical and radiological follow-up of seven SCT pediatric cases associated with biallelic FLNB variants, from four Argentinian families. The seven cases share previously described facial characteristics: round facies, large eyes, and wide based nose; all of them had variable height deficit, in one case noted early in life. Other findings included clinodactyly, joint limitation without bone fusion, neurosensorial hearing loss, and ophthalmological compromise. All cases presented with spinal fusion with variable severity and location, carpal bones coalition, and also delay in carpal ossification. The heterozygous carrier parents had normal height values to -2.5 score standard deviation, without skeletal defects detected. Three different FLNB variants, one nonsense and two frameshift, were detected, all of which were predicted to result in a truncated protein or are degraded by nonsense mediated decay. All cases had at least one copy of the nonsense variant, c.1128C> G; p. (Tyr376*), suggesting the presence of a common ancestor.

3.
Oral Dis ; 2024 Jun 30.
Article de Anglais | MEDLINE | ID: mdl-38946217

RÉSUMÉ

OBJECTIVE: Histopathological grading of oral epithelial dysplasia (OED) is the current standard for stratifying cancer progression risk but is associated with subjectivity and variability. This problem is not commonly seen regarding the grading of epithelial dysplasia in other sites. This systematic review aims to compare grading systems for oral, anal, penile, and cervical epithelial dysplasia to determine their predictive accuracy for recurrence and malignant transformation (MT) outcomes. METHODS: The review protocol was registered in PROSPERO (CRD42023403035) and was reported according to the PRISMA checklist. A comprehensive search was performed in the main databases and gray literature. The risk of bias in individual studies was analyzed using the Joanna Briggs Institute checklist for each study design. RESULTS: Forty-six studies were deemed eligible and included in this systematic review, of which 45 were included in the quantitative analysis. Meta-analysis revealed that the binary system demonstrated a higher predictive ability for MT/recurrence of OED compared to multilevel systems. Higher predictive accuracy of MT was also observed for binary grading systems in anal intraepithelial neoplasia. CONCLUSIONS: No significant difference was found between the current grading systems of epithelial dysplasia in different body parts. However, binary grading systems have shown better clinical outcomes.

5.
Pediatr Pulmonol ; 2024 Jul 18.
Article de Anglais | MEDLINE | ID: mdl-39023342

RÉSUMÉ

BACKGROUND: Bronchopulmonary dysplasia (BPD) remains a significant challenge in neonatal care. Prenatal inflammation and neonatal sepsis contribute to the multifactorial nature of BPD. A potential association between empirical antibiotic therapy and BPD risk has been proposed due to microbiota dysbiosis in very low birth weight premature infants. METHODS: A single centered retrospective cohort study of preterm infants (24-32 weeks gestation) from 2014 to 2021. The study compared groups that received empirical antibiotics in the first days of life and those that did not receive any antibiotic in the first days of life. The primary outcomes studied were BPD, death, and the combined outcome of BPD/death. Statistical analysis employed t-tests, Mann-Whitney U, Chi-square, and logistic regression. RESULTS: Of 454 preterm infants, 61.5% received antibiotics. This group had lower gestational age, birth weight, and Apgar scores. Antibiotic use was associated with higher incidence of BPD (35.5% vs. 10.3%), death (21.5% vs. 8.6%), and combined outcomes (54.5% vs. 18.3%). In multivariate analysis, antibiotic use independently associated with BPD (OR 2.58, p < 0.001) and combined outcome BPD/death (OR 2.06, p < 0.02). Antenatal corticosteroids provided protection against BPD, but not mortality. CONCLUSION: This study suggests an association between early empirical antibiotic use and BPD in preterm infants, emphasizing the need for judicious antibiotic practices in neonatal care.

6.
Int J Cardiol ; 411: 132246, 2024 Sep 15.
Article de Anglais | MEDLINE | ID: mdl-38851539

RÉSUMÉ

BACKGROUND: Left ventricular diastolic dysfunction indicated by elevated pulmonary capillary wedge pressure (ePCWP) may worsen cardiorespiratory status in bronchopulmonary dysplasia (BPD), but the scope of ePCWP by cardiac catheterization is not well described. METHODS: This single-center retrospective cohort study included infants with BPD without congenital heart disease, significant intracardiac shunts, or pulmonary vein stenosis who underwent cardiac catheterization from 2010 to 2021. ePCWP was defined as >10 mmHg. Quantitative measures of ventricular systolic and diastolic function were performed on existing echocardiograms. Patients with and without ePCWP were compared using the Chi-squared or Wilcoxon rank-sum tests. Associations between catheterization hemodynamics and echocardiographic parameters were assessed by simple linear regression. RESULTS: Seventy-one infants (93% Grade 2 or 3 BPD) met inclusion criteria, and 30 (42%) had ePCWP. Patients with ePCWP were older at catheterization (6.7 vs. 4.5 months, p < 0.001), more commonly underwent tracheostomy (66.7% vs. 29.3%, p = 0.003), and had higher mean systemic blood pressure [64.5 (56.0, 75.0) vs. 47.0 (43.0, 55.0) mm Hg, p < 0.001], higher systemic vascular resistance [11.9 (10.4, 15.6) vs. 8.7 (6.7, 11.2) WU*m2, p < 0.001), and lower cardiac index [3.9 (3.8, 4.9) vs. 4.7 (4.0, 6.3) L/min/m2, p = 0.03] at catheterization. Mean pulmonary artery pressure, pulmonary vascular resistance, and mortality were similar between the groups. Echocardiographic indices of left ventricular diastolic dysfunction did not correlate with PCWP. CONCLUSIONS: ePCWP was common in infants with severe BPD who underwent cardiac catheterization in this cohort. The association between ePCWP and higher systemic blood pressure supports further study of afterload reduction in this population.


Sujet(s)
Dysplasie bronchopulmonaire , Cathétérisme cardiaque , Pression artérielle pulmonaire d'occlusion , Humains , Études rétrospectives , Mâle , Femelle , Dysplasie bronchopulmonaire/physiopathologie , Dysplasie bronchopulmonaire/diagnostic , Pression artérielle pulmonaire d'occlusion/physiologie , Nourrisson , Pression sanguine/physiologie , Études de cohortes , Nouveau-né , Échocardiographie/méthodes
7.
Genome Med ; 16(1): 75, 2024 05 31.
Article de Anglais | MEDLINE | ID: mdl-38822427

RÉSUMÉ

BACKGROUND: Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a vast majority of CH cases lack a genetic diagnosis. Whole exome and whole genome sequencing of CH patients identifies sequence variants in genes known to cause CH, and in new candidate genes, but many of these are variants of uncertain significance (VUS). METHODS: The International Mouse Phenotyping Consortium (IMPC) is an effort to establish gene function by knocking-out all genes in the mouse genome and generating corresponding phenotype data. We used mouse embryonic imaging data generated by the Deciphering Mechanisms of Developmental Disorders (DMDD) project to screen 209 embryonic lethal and sub-viable knockout mouse lines for pituitary malformations. RESULTS: Of the 209 knockout mouse lines, we identified 51 that have embryonic pituitary malformations. These genes not only represent new candidates for CH, but also reveal new molecular pathways not previously associated with pituitary organogenesis. We used this list of candidate genes to mine whole exome sequencing data of a cohort of patients with CH, and we identified variants in two unrelated cases for two genes, MORC2 and SETD5, with CH and other syndromic features. CONCLUSIONS: The screening and analysis of IMPC phenotyping data provide proof-of-principle that recessive lethal mouse mutants generated by the knockout mouse project are an excellent source of candidate genes for congenital hypopituitarism in children.


Sujet(s)
Hypopituitarisme , Souris knockout , Hypophyse , Hypopituitarisme/génétique , Animaux , Humains , Hypophyse/métabolisme , Hypophyse/malformations , Hypophyse/anatomopathologie , Souris , Phénotype , Femelle , Mâle , Modèles animaux de maladie humaine , Exome Sequencing , Dysplasie septo-optique/génétique
8.
Acta Ortop Mex ; 38(3): 188-192, 2024.
Article de Espagnol | MEDLINE | ID: mdl-38862149

RÉSUMÉ

Progressive pseudorheumatoid dysplasia (PPD) is an autosomal recessive hereditary disease of very low prevalence. It is characterized by the affection of multiple joints, generating arthrosis and progressive deformities from a very young age, which significantly affect the quality of life of patients. Its diagnosis is only confirmed by genetic testing, and no specific pharmacological treatment is still available. In the case of hip involvement, one treatment option is arthroplasty. In this case report, we present a 15-year-old boy with bilateral coxarthrosis secondary to PPD who underwent bilateral total hip arthroplasty in two stages. We highlight the characteristics of this rare entity, the intraoperative findings, the functional outcomes, and the impact on quality of life.


La displasia progresiva pseudorreumatoide (DPP) es una enfermedad hereditaria autosómica recesiva, de muy baja prevalencia. Se caracteriza por la afección de múltiples articulaciones, generando artrosis y deformidades progresivas desde muy temprana edad, que afectan considerablemente la calidad de vida de los pacientes. Su diagnóstico sólo se confirma por análisis genéticos y aún no se dispone de tratamiento farmacológico específico. Ante la afectación de la cadera, una opción de tratamiento está representada por la artroplastía. En este reporte de caso, presentamos un joven de 15 años, con coxartrosis bilateral secundaria a DPP, al cual se le realizó una artroplastía total de cadera bilateral, en dos tiempos. Destacamos las características propias de esta extraña entidad, los hallazgos intraoperatorios, sus resultados funcionales y el impacto en la calidad de vida.


Sujet(s)
Arthroplastie prothétique de hanche , Humains , Adolescent , Mâle , Arthroplastie prothétique de hanche/méthodes , Maladies articulaires/chirurgie , Maladies articulaires/congénital
9.
Braz J Otorhinolaryngol ; 90(5): 101434, 2024.
Article de Anglais | MEDLINE | ID: mdl-38848629

RÉSUMÉ

OBJECTIVE: Frozen biopsy may guide surgical intraoperative decisions. We evaluated the accuracy of frozen biopsy for diagnosing benign, dysplastic and malignant laryngeal lesions, compared to paraffin section (gold standard). METHODS: Retrospective review of the charts of all patients presenting with laryngeal lesions suspicious of malignancy, who underwent laryngeal microsurgery with frozen biopsy in our institution, between 2015 and 2020. Results of frozen biopsy and paraffin section examinations were compared. RESULTS: Among 113 samples of 89 patients, paraffin section diagnosed 23 benign, 31 dysplastic and 59 malignant lesions. The accuracy of the frozen biopsy in identifying dysplasia or malignancy was 80.5% (91/113), and greater for lesions >5 mm (78.8% × 51.5%; p = 0.009). The positive and negative predictive values, sensitivity and specificity were 95.9%, 51.3%, 78.9% and 86.9%, respectively. CONCLUSIONS: Frozen section is a reliable tool when malignancy is detected, but almost half of benign results exhibit dysplasia or malignancy in paraffin section. Other clinical parameters should be considered in intraoperative decisions to prevent undertreatment.


Sujet(s)
Coupes minces congelées , Glotte , Tumeurs du larynx , Microchirurgie , Humains , Études rétrospectives , Tumeurs du larynx/chirurgie , Tumeurs du larynx/anatomopathologie , Mâle , Femelle , Adulte d'âge moyen , Sujet âgé , Glotte/anatomopathologie , Glotte/chirurgie , Microchirurgie/méthodes , Adulte , Sensibilité et spécificité , Valeur prédictive des tests , Sujet âgé de 80 ans ou plus , Jeune adulte
10.
Article de Espagnol | LILACS-Express | LILACS | ID: biblio-1564641

RÉSUMÉ

El objetivo de este estudio fue describir las alternativas terapéuticas ortodóncico-quirúrgicas más utilizadas en la actualidad para el manejo de la displasia cleidocraneal en pacientes en crecimiento. Se realizó una búsqueda de literatura durante mayo de 2023 en las bases de datos Pubmed, Epitemonikos, Dentistry & Oral Sciences Source y LILACS sobre reporte de casos que presentaran estrategias de tratamiento ortodóncico-quirúrgico en pacientes menores de 18 años con displasia cleidocraneal. Seis artículos cumplieron con los criterios de inclusión. De ellos se obtuvieron siete reportes de casos. Las edades de los pacientes fluctúan entre los 10 y 16 años. Las estrategias de tratamiento consisten en al menos dos etapas de tratamiento ortodóncico quirúrgicas que involucran la extracción de dientes primarios y supernumerarios y la exposición quirúrgica de dientes permanentes retenidos para permitir su erupción y/o su tracción ortodóncica. Algunos casos son finalizados con cirugía Ortognática (Osteotomía Le Fort I de avance maxilar). La extracción de dientes primarios y supernumerarios, fenestración y tracción ortodóncica de los dientes permanentes retenidos y la cirugía ortognática al finalizar el crecimiento (cuando sea necesario) se propone actualmente como la mejor alternativa terapéutica para el tratamiento de pacientes con displasia cleidocraneal.


The objective of this study was to describe the orthodontic-surgical therapeutic alternatives most used nowadays, for the management of CCD in growing patients. A literature search for case reports was carried out through May, 2023 in PubMed, Epitemonikos, Dentistry & Oral Sciences Source and LILACS databases. We included case reports that presented complete orthodontic-surgical treatment strategies in patients with DCC under 18 years of age. Six articles met the inclusion criteria and seven case reports were identified. The age of cases ranged from 10 to 16 years. Treatment strategies consisted of at least two stages of surgical orthodontic treatment involving extraction of primary and supernumerary teeth and surgical exposure of impacted permanent teeth to allow spontaneous eruption or orthodontic traction. Some cases were completed with orthognathic surgery. Extraction of primary and supernumerary teeth, fenestration and orthodontic traction of retained permanent teeth and orthognathic surgery at the end of growth (when necessary) is currently proposed as the best therapeutic alternative for the treatment of patients with DCC.

12.
Pediatr Pulmonol ; 2024 May 07.
Article de Anglais | MEDLINE | ID: mdl-38712796

RÉSUMÉ

PURPOSE: Predicting bronchopulmonary dysplasia (BPD) to assess the risk-benefit of therapy is necessary considering the side effects of medications. We developed and validated an instrument for predicting BPD and compared it with an instrument currently used for neonates born in a Brazilian hospital. METHODS: This was a retrospective cohort study of patients born between 2016 and 2020 with a gestational age (GA) between 23 and 30 weeks. Predictive equations were elaborated using methods of component variable selection collected on the 14th day of life; 70% of the sample was randomly selected for the construction of risk prediction equations and the remaining 30% for their validation, application, and comparison with the National Institute of Child Health and Human Development (NICHD) instrument. The sensitivity, specificity, and predictive values of the equations were calculated. RESULTS: The equation that used variables with p < 5% in Fisher's exact test presented the best results: specificity of 98% and positive predictive value of 93% and could be used for BPD prediction of all small-for-gestational-age (SGA) infants. The NICHD calculator applied to our population had a specificity of 93% and a positive predictive value of 75% and could not be applied to extremely SGA infants. CONCLUSION: Our tool can predict the risk of BPD on the 14th day of life, has higher specificity and positive predictive value to our population than the NICHD instrument, and can be suitable for SGA infants. The results must be confirmed by applying it to other populations to validate our tool.

13.
J Oral Pathol Med ; 53(5): 321-330, 2024 May.
Article de Anglais | MEDLINE | ID: mdl-38693618

RÉSUMÉ

BACKGROUND: To evaluate the presence of myofibroblasts (MFs) in the development of lip carcinogenesis, through the correlation of clinical, histomorphometric and immunohistochemical parameters, in actinic cheilitis (ACs) and lower lip squamous cell carcinomas (LLSCCs). METHODS: Samples of ACs, LLSCCs, and control group (CG) were prepared by tissue microarray (TMA) for immunohistochemical TGF-ß, α-SMA, and Ki-67 and histochemical hematoxylin and eosin, picrosirius red, and verhoeff van gieson reactions. Clinical and microscopic data were associated using the Mann-Whitney, Kruskal-Wallis/Dunn, and Spearman correlation tests (SPSS, p < 0.05). RESULTS: ACs showed higher number of α-SMA+ MFs when compared to CG (p = 0.034), and these cells were associated with the vertical expansion of solar elastosis (SE) itself (p = 0.027). Areas of SE had lower deposits of collagen (p < 0.001), immunostaining for TGF-ß (p < 0.001), and higher density of elastic fibers (p < 0.05) when compared to areas without SE. A positive correlation was observed between high-risk epithelial dysplasia (ED) and the proximity of SE to the dysplastic epithelium (p = 0.027). LLSCCs showed a higher number of α-SMA+ MFs about CG (p = 0.034), as well as a reduction in the deposition of total collagen (p = 0.009) in relation to ACs and CG. There was also a negative correlation between the amount of α-SMA+ cells and the accumulation of total collagen (p = 0.041). Collagen and elastic density loss was higher in larger tumors (p = 0.045) with nodal invasion (p = 0.047). CONCLUSIONS: Our findings show the possible role of MFs, collagen fibers, and elastosis areas in the lip carcinogenesis process.


Sujet(s)
Carcinome épidermoïde , Chéilite , Matrice extracellulaire , Tumeurs de la lèvre , Myofibroblastes , Humains , Chéilite/anatomopathologie , Chéilite/métabolisme , Tumeurs de la lèvre/anatomopathologie , Tumeurs de la lèvre/métabolisme , Myofibroblastes/anatomopathologie , Carcinome épidermoïde/anatomopathologie , Mâle , Femelle , Adulte d'âge moyen , Matrice extracellulaire/anatomopathologie , Sujet âgé , Facteur de croissance transformant bêta , Adulte , Actines , Immunohistochimie , Antigène KI-67 , Collagène , Tissu élastique/anatomopathologie
14.
Diagnostics (Basel) ; 14(9)2024 Apr 25.
Article de Anglais | MEDLINE | ID: mdl-38732313

RÉSUMÉ

Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide variants (SNVs). Incorporating genetic factors into diagnostic methods would be useful for implementing early detection and management of affected individuals. Our aim was to analyze environmental factors and SNVs in DDH patients. We included 287 DDH cases and 284 controls. Logistic regression demonstrated an association for sex (OR 9.85, 95% CI 5.55-17.46, p = 0.0001), family history (OR 2.4, 95% CI 1.2-4.5, p = 0.006), fetal presentation (OR 3.19, 95% CI 1.55-6.54, p = 0.002), and oligohydramnios (OR 2.74, 95%CI 1.12-6.70, p = 0.026). A model predicting the risk of DDH including these variables showed sensitivity, specificity, PPV, and NPV of 0.91, 0.53, 0.74, and 0.80 respectively. The SNV rs1800470 in TGFB1 showed an association when adjusted for covariables, OR 0.49 (95% CI 0.27-0.90), p = 0.02. When rs1800470 was included in the equation, sensitivity, specificity, PPV and NPV were 0.90, 0.61, 0.84, and 0.73, respectively. Incorporating no-operator dependent variables and SNVs in detection methods could be useful for establishing uniform clinical guidelines and optimizing health resources.

15.
J Pediatr ; 271: 114082, 2024 Aug.
Article de Anglais | MEDLINE | ID: mdl-38697609

RÉSUMÉ

Lung function was assessed at 8 years in 308 infants born extremely preterm between 1994 and 2013. Although lung function of those infants born at 22 through 25 weeks remained unchanged, those who were born at 26-27 weeks showed a significant improvement over the past 2 decades.


Sujet(s)
Très grand prématuré , Poumon , Surfactants pulmonaires , Tests de la fonction respiratoire , Humains , Études rétrospectives , Nouveau-né , Femelle , Mâle , Poumon/physiopathologie , Âge gestationnel , Syndrome de détresse respiratoire du nouveau-né/épidémiologie , Enfant , Études de suivi , Dysplasie bronchopulmonaire/épidémiologie
16.
G Ital Nefrol ; 41(2)2024 Apr 29.
Article de Anglais | MEDLINE | ID: mdl-38695229

RÉSUMÉ

Background. Neonatal high blood pressure has been diagnosed more frequently in recent years, and its impact extends to adulthood. However, the knowledge gaps on associated factors, diagnosis, and treatment are challenging for medical personnel. The incidence of this condition varies depending on neonatal conditions. Patients in the Newborn Unit are at increased risk of developing high blood pressure. The persistence of this condition beyond the neonatal stage increases the risk of cardiovascular disease and chronic kidney disease in childhood and adulthood. Methodology. A case-control study was carried out. It included hospitalized patients with neonatal hypertension as cases. Three controls were randomly selected for each case and matched by gestational age. The variables were analyzed based on their nature. Multivariate analysis was performed using a multivariate conditional regression model to identify variables associated with the outcome. Finally, the model was adjusted for possible confounders. Results. 37 cases were obtained and matched with 111 controls. In the univariate analysis, heart disease (OR 2.86; 95% CI 1.22-6.71), kidney disease (OR 7.24; 95% CI 1.92-28.28), bronchopulmonary dysplasia (OR 6.62; 95% CI 1.42-50.82) and major surgical procedures (OR 3.71; 95% CI 1.64-8.39) had an association with neonatal arterial hypertension. Only the latter maintained this finding in the multivariate analysis (adjusted OR 2.88; 95% CI 1.14-7.30). A significant association of two or more comorbidities with neonatal arterial hypertension was also found (OR 3.81; 95% CI 1.53-9.49). Conclusions. The study analyzed the factors related to high blood pressure in hospitalized neonates, finding relevant associations in the said population. The importance of meticulous neonatal care and monitoring of risk factors such as birth weight and major surgeries is highlighted.


Sujet(s)
Hypertension artérielle , Humains , Études cas-témoins , Nouveau-né , Hypertension artérielle/épidémiologie , Hypertension artérielle/complications , Femelle , Mâle , Facteurs de risque , Dysplasie bronchopulmonaire/épidémiologie , Dysplasie bronchopulmonaire/complications , Cardiopathies/épidémiologie , Cardiopathies/complications , Cardiopathies/étiologie
17.
Medicina (B.Aires) ; Medicina (B.Aires);84(supl.1): 2-8, mayo 2024. graf
Article de Espagnol | LILACS-Express | LILACS | ID: biblio-1558476

RÉSUMÉ

Resumen La aparición de convulsiones es frecuente durante el periodo neonatal debido a las características de inma durez funcional del cerebro es este periodo. La aparición de estas convulsiones puede llevar a un diagnóstico de epilepsia neonatal, que suele estar asociado a alteracio nes estructurales del cerebro durante el neurodesarrollo. Aproximadamente el 50% de las personas con epilepsia activa padecen al menos un trastorno médico comórbi do, y esto hace que cambie la evolución de la epilepsia. La presencia de trastornos neurológicos que preceden a la aparición de la epilepsia indica que alteraciones es tructurales y/o funcionales del cerebro subyacentes pue den ser causa de la predisposición a padecer epilepsia y de los procesos comórbidos de manera independiente. En esta revisión describimos los procesos cerebrales estructurales y funcionales que subyacen a la aparición de epilepsia neonatal y sus comorbilidades.


Abstract The occurrence of seizures is frequent during the neonatal period due to the functional immaturity of the brain.The presence of these seizures may lead to a diagnosis of neonatal epilepsy, which is usually as sociated with structural alterations of the brain during neurodevelopment. Approximately 50% of people with active epilepsy have at least one comorbid medical di sorder, and the existence of a comorbid process changes the course of the epilepsy. The presence of neurologic disorders preceding the onset of epilepsy indicates that underlying neurobiological alterations may indepen dently cause the predisposition to epilepsy and comor bid processes. In this review we describe the structural and functional brain processes underlying the onset of neonatal epilepsy and its comorbidities.

18.
BMC Infect Dis ; 24(1): 418, 2024 Apr 19.
Article de Anglais | MEDLINE | ID: mdl-38641577

RÉSUMÉ

AIM: Palivizumab has proven effective in reducing hospitalizations, preventing severe illness, improving health outcomes, and reducing healthcare costs for infants at risk of respiratory syncytial virus (RSV) infection. We aim to assess the value of palivizumab in preventing RSV infection in high-risk infants in Colombia, where RSV poses a significant threat, causing severe respiratory illness and hospitalizations. METHODS: We conducted a decision tree analysis to compare five doses of palivizumab with no palivizumab. The study considered three population groups: preterm neonates (≤ 35 weeks gestational age), infants with bronchopulmonary dysplasia (BPD), and infants with hemodynamically significant congenital heart disease (CHD). We obtained clinical efficacy data from IMpact-RSV and Cardiac Synagis trials, while we derived neonatal hospitalization risks from the SENTINEL-1 study. We based hospitalization and recurrent wheezing management costs on Colombian analyses and validated them by experts. We estimated incremental cost-effectiveness ratios and performed 1,000 Monte Carlo simulations for probabilistic sensitivity analyses. RESULTS: Palivizumab is a dominant strategy for preventing RSV infection in preterm neonates and infants with BPD and CHD. Its high efficacy (78% in preventing RSV in preterm infants), the substantial risk of illness and hospitalization, and the high costs associated with hospitalization, particularly in neonatal intensive care settings, support this finding. The scatter plots and willingness-to-pay curves align with these results. CONCLUSION: Palivizumab is a cost-saving strategy in Colombia, effectively preventing RSV infection in preterm neonates and infants with BPD and CHD by reducing hospitalizations and lowering healthcare costs.


Sujet(s)
Cardiopathies congénitales , Infections à virus respiratoire syncytial , Virus respiratoire syncytial humain , Nourrisson , Nouveau-né , Humains , Palivizumab/usage thérapeutique , Infections à virus respiratoire syncytial/traitement médicamenteux , Infections à virus respiratoire syncytial/épidémiologie , Infections à virus respiratoire syncytial/prévention et contrôle , Analyse coût-bénéfice , Colombie/épidémiologie , Antiviraux/usage thérapeutique , Prématuré , Anticorps monoclonaux humanisés/usage thérapeutique , Hospitalisation
19.
Epileptic Disord ; 26(3): 382-391, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38588048

RÉSUMÉ

The presence of dysmorphic neurons with strong cytoplasmatic accumulation of heavy non-phosphorylated neurofilament is crucial for the diagnostics of focal cortical dysplasia type II (FCDII). While ILAE's classification describes neocortical dysplasias, some groups have reported patients with mesial t abnormal neurons in the hippocampus of mesial temporal lobe epilepsy. Here we report a patient with such abnormal neurons in the hippocampus and compared it with previous reports of hippocampal dysplasia. Finally, we discuss the need for diagnostic criteria of hippocampal dysplasia.


Sujet(s)
Épilepsie temporale , Hippocampe , Adulte , Humains , Épilepsie , Épilepsie temporale/diagnostic , Épilepsie temporale/anatomopathologie , Hippocampe/anatomopathologie , Imagerie par résonance magnétique , Malformations corticales/diagnostic , Malformations corticales/anatomopathologie , Malformations corticales du groupe I/diagnostic , Malformations corticales du groupe I/anatomopathologie
20.
Curr Issues Mol Biol ; 46(4): 3050-3062, 2024 Apr 02.
Article de Anglais | MEDLINE | ID: mdl-38666921

RÉSUMÉ

Nearly 90% of oral cancers are characterized as oral squamous cell carcinoma (OSCC), representing the sixth most common type of cancer. OSCC usually evolves from oral potentially malignant disorders that, in some cases, are histologically consistent with a oral dysplasia. The levels of 1α,25 dihydroxyvitamin D3 (1,25-(OH)2D3; calcitriol), the active form of vitamin D3, have been shown to be decreased in patients with oral dysplasia and OSCC. Moreover, treatment with 1,25-(OH)2D3 has been proven beneficial in OSCC by inhibiting the Wnt/ß-catenin pathway, a signaling route that promotes cell migration, proliferation, and viability. However, whether this inhibition mechanism occurs in oral dysplasia is unknown. To approach this question, we used dysplastic oral keratinocyte cultures and oral explants (ex vivo model of oral dysplasia) treated with 1,25-(OH)2D3 for 48 h. Following treatment with 1,25-(OH)2D3, both in vitro and ex vivo models of oral dysplasia showed decreased levels of nuclear ß-catenin by immunofluorescence (IF) and immunohistochemistry (IHC). Consistently, reduced protein and mRNA levels of the Wnt/ß-catenin target gene survivin were observed after treatment with 1,25-(OH)2D3. Moreover, 1,25-(OH)2D3 promoted membranous localization of E-cadherin and nuclear localization of vitamin D receptor (VDR). Functionally, DOK cells treated with 1,25-(OH)2D3 displayed diminished cell migration and viability in vitro.

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