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1.
Arch. argent. pediatr ; 122(1): e202303031, feb. 2024. ilus, tab
Article in English, Spanish | BINACIS, LILACS | ID: biblio-1525821

ABSTRACT

La espondiloencondrodisplasia con desregulación inmune relacionada a ACP5 (SPENCDI #607944, por la sigla de spondyloenchondrodysplasia with immune dysregulation y el número que le corresponde en OMIM, Online Mendelian Inheritance in Man) es una displasia inmuno-ósea poco frecuente con manifestaciones heterogéneas y gravedad variable. Presenta lesiones espondilometafisarias, disfunción inmune y compromiso neurológico. Se reportan aspectos clínicos, radiológicos y genéticos de cuatro niñas con SPENCDI en un hospital pediátrico. Todas presentaron manifestaciones esqueléticas y tres de ellas enfermedad inmunológica grave. Se encontró en tres pacientes la variante probablemente patogénica c.791T>A; p.Met264Lys en homocigosis, y en una paciente las variantes c.791T>A; p.Met264Lys y c.632T>C; p.lle211Thr (variante de significado incierto con predicción patogénica según algoritmos bioinformáticos) en heterocigosis compuesta en ACP5. La presencia de la variante repetida c.791T>A sugiere la posibilidad de un ancestro en común en nuestra población. El reconocimiento y diagnóstico de esta entidad es importante para lograr un oportuno abordaje, que deberá ser multidisciplinario, orientado hacia la prevención de posibles complicaciones.


Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.


Subject(s)
Humans , Female , Child, Preschool , Child , Autoimmune Diseases , Immunologic Deficiency Syndromes/complications , Tartrate-Resistant Acid Phosphatase/genetics
2.
Rev. argent. dermatol ; 105: 1-1, ene. 2024. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1535519

ABSTRACT

Resumen La incontinencia pigmenti(IP) es una genodermatosis infrecuente ysistémica del neuroectodermo que involucra la piel, el sistema nervioso central, los ojos y los dientes, entre otros. Los signos clínicos dermatológicos constituyen el principal criterio diagnóstico, debido a que suelen ser los primeros en manifestarse. Se describen cuatro estadios característicos de la enfermedad según las lesiones cutáneas predominantes. No obstante, su pronóstico depende de los signos y síntomas extracutáneos. El diagnóstico se centra en criterios clínicos, histopatológicos y/o genéticos. Visto que no existe una terapéutica específica, la atención médica de esta enfermedad es multidisciplinaria y sintomática, y debe acompañarse del asesoramiento genético a los afectados y sus familiares. Presentamos el caso de una niña, nacida a término completo, quien presentó un cuadro clínico compatible con incontinencia pigmenti, del cual detallamos su progresión clínica, diagnóstico y seguimiento.


Abstract Incontinentiapigmenti is a rare and multisystemic,neuroectodermal genodermatosis that involves the skin, central nervous system, eyes and teeth, among others. Dermatological clinical signs are the main diagnostic criteria because they are usually the first to manifest. Four characteristic stages of the disease are described according to the predominant skin lesions. Nonetheless, prognosis depends on extracutaneous clinical signs and symptoms. Diagnosis is based on clinical, histopathological and/or genetic criteria. Considering there is no specific treatment available, the management of this disease is multidisciplinary and symptomatic, and must be accompanied by genetic counseling for those affected and their families. We present in a full-tern newborn femalethat presented with a clinical picture compatible with incontinentiapigmenti, and we will detail the clinical progression, diagnosis, and follow-up.

3.
J. pediatr. (Rio J.) ; 100(1): 8-24, 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1528965

ABSTRACT

Abstract Objectives To compare LISA with INSURE technique for surfactant administration in preterm with gestational age (GA) < 36 weeks with RDS in respect to the incidence of pneumothorax, bronchopulmonary dysplasia (BPD), need for mechanical ventilation (MV), regional cerebral oxygen saturation (rSO2), peri‑intraventricular hemorrhage (PIVH) and mortality. Methods A systematic search in PubMed, Embase, Lilacs, CINAHL, SciELO databases, Brazilian Registry of Randomized Clinical Trials (ReBEC), Clinicaltrials.gov, and Cochrane Central Register of Controlled Trials (CENTRAL) was performed. RCTs evaluating the effects of the LISA technique versus INSURE in preterm infants with gestational age < 36 weeks and that had as outcomes evaluation of the rates of pneumothorax, BPD, need for MV, rSO2, PIVH, and mortality were included in the meta-analysis. Random effects and hazard ratio models were used to combine all study results. Inter-study heterogeneity was assessed using Cochrane Q statistics and Higgin's I2 statistics. Results Sixteen RCTs published between 2012 and 2020 met the inclusion criteria, a total of 1,944 preterms. Eleven studies showed a shorter duration of MV and CPAP in the LISA group than in INSURE group. Two studies evaluated rSO2 and suggested that LISA and INSURE transiently affect brain autoregulation during surfactant administration. INSURE group had a higher risk for MV in the first 72 h of life, pneumothorax, PIVH and mortality in comparison to the LISA group. Conclusion This systematic review and meta-analyses provided evidence for the benefits of the LISA technique in the treatment of RDS, decreasing CPAP time, need for MV, BPD, pneumothorax, PIVH, and mortality when compared to INSURE.

4.
São Paulo med. j ; 142(1): e2022527, 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1509214

ABSTRACT

ABSTRACT BACKGROUND: Managing cervical intraepithelial neoplasia grade 2 (CIN2) is challenging, considering the CIN2 regression rate, perinatal risks associated with excisional procedures, and insufficient well-established risk factors to predict progression. OBJECTIVES: To determine the ability of p16INK4a and Ki-67 staining in biopsies diagnosed with CIN2 to identify patients with higher-grade lesions (CIN3 or carcinoma). DESIGN AND SETTING: Cross-sectional study conducted at a referral center for treating uterine cervical lesions. METHODS: In 79 women, we analyzed the correlation of p16INK4a and Ki-67 expression in CIN2 biopsies with the presence of a higher-grade lesions, as determined via histopathology in surgical specimens from treated women or via two colposcopies and two cytological tests during follow-up for untreated women with at least a 6-month interval. The expression of these two biomarkers was verified by at least two independent pathologists and quantified using digital algorithms. RESULTS: Thirteen (16.8%) women with CIN2 biopsy exhibited higher-grade lesions on the surgical excision specimen or during follow-up. p16INK4a expression positively and negatively predicted the presence of higher-grade lesions in 17.19% and 86.67% patients, respectively. Ki-67 expression positively and negatively predicted the presence of higher-grade lesions in 40% and 88.24% patients, respectively. CONCLUSIONS: Negative p16INK4a and Ki67 immunohistochemical staining can assure absence of a higher-grade lesion in more than 85% of patients with CIN2 biopsies and can be used to prevent overtreatment of these patients. Positive IHC staining for p16INK4a and Ki-67 did not predict CIN3 in patients with CIN2 biopsies.

5.
São Paulo med. j ; 142(1): e2022355, 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1450509

ABSTRACT

ABSTRACT BACKGROUND: There is a lack of studies evaluating the oral health of traditional indigenous communities in Brazil. OBJECTIVES: Thus, the objective of this study was to describe the oral health characteristics of the indigenous Fulni-ô ethnic group in Northeast Brazil. DESIGN AND SETTING: A cross-sectional observational investigation was conducted within the Project on Atherosclerosis among Indigenous Populations. METHODS: This study included participants of both sexes from the Fulni-ô ethnic group. The participants included in this investigation underwent a comprehensive oral health evaluation by a registered and experienced dentist to assess oral health and identify potentially malignant oral lesions. Participants with suspicious lesions were referred for biopsy. Shapiro-Wilk, Mann-Whitney, and Student's t-tests were used, and measures of central tendency and dispersion were described. Statistical significance was 5%. RESULTS: A total of 104 individuals were included in this study. The prevalence of the use of tobacco derivatives was 94.0%, with similarities between sexes. The prevalence of oral changes in this study population was 84.4%. Fifty-one individuals who underwent oral reassessment were referred for oral lesion biopsy. CONCLUSIONS: This study demonstrated a high prevalence of oral alterations in the Fulni-ô population. Histopathological analyses indicated the presence of mild oral epithelial dysplasia in five cases.

6.
China Pharmacy ; (12): 155-159, 2024.
Article in Chinese | WPRIM | ID: wpr-1006171

ABSTRACT

OBJECTIVE To investigate the improvement effects of azithromycin on bronchopulmonary dysplasia (BPD) in neonatal rats based on hypoxia-inducible factor-1α(HIF-1α)/HIF-2α/vascular endothelial growth factor (VEGF) pathway. METHODS Sixty newborn SD rats were randomly divided into negative control group (NC), BPD group, azithromycin group and budesonide group (positive control), with 15 rats in each group. Rats in NC group were given normal breathing air, while rats in other three groups were exposed to high-concentration oxygen for 14 days to establish BPD rat models. After successful modeling, rats in azithromycin group were intraperitoneally injected with azithromycin 200 mg/kg, and rats in budesonide group were atomized with budesonide 1.5 mg/kg once a day for 14 consecutive days, while rats in BPD group and NC group were not treated. Pathological changes of lung tissue, radial alveolar count and mean alveolar intercept of rats were observed in each group. The white blood cell count in bronchoalveolar lavage fluid (BALF) and the levels of tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), IL-1β, superoxide dismutase (SOD), catalase (CAT) and malondialdehyde (MDA) were detected; mRNA and protein expressions of VEGF, HIF-1α, HIF-2α were also detected. RESULTS Compared with NC group, the lung tissue in BPD group was obviously damaged; the white blood cell count, average alveolar intercept and the levels of TNF-α, IL-6, IL-1β and MDA were significantly increased; the radial alveolar count, SOD and CAT levels, the relative expressions of VEGF, HIF-1α, HIF-2α mRNA and protein were significantly decreased (P<0.05). Compared with BPD group, the changes of the above indexes in azithromycin group and budesonide group were significantly reversed (P<0.05). CONCLUSIONS Azithromycin can obviously improve the symptoms of BPD in rats, reduce inflammation and oxidative stress, and exert lung protection, the mechanism of which may be realized by activating HIF-1α/HIF-2α/VEGF pathway.

7.
Article in English | LILACS-Express | LILACS | ID: biblio-1535949

ABSTRACT

Introduction: Anal squamous cell carcinoma is rare, but its incidence and mortality have been increasing globally; 90% of cases are related to human papillomavirus (HPV) infection(1,2). Patients with inflammatory bowel disease (IBD) have a higher risk of infection with this virus; an incidence of 5.5 per 100,000 patients has been identified in the IBD group compared to 1.8 in the non-IBD group(3). Materials and methods: A descriptive case series study was conducted with 21 patients with IBD and no perianal symptoms between January and July 2022 at the Institute of Coloproctology in Medellín. They underwent anal cytology, HPV genotyping, and high-resolution anoscopy after explanation and acceptance of the procedure. If lesions were found, ablative treatment was performed. Results: 23% of this cohort had low-grade squamous lesions, while 14.2% had high-grade lesions with dysplasia changes during anoscopy. Besides, 90.4% had positive HPV genotyping, of which 76.1% were high-grade. Conclusions: Our study suggests that this series of patients with IBD behaves as a high-risk group for developing premalignant lesions in association with HPV. High-resolution anoscopy is a cost-effective, painless, and affordable method that, in expert hands, may impact the diagnosis and management of premalignant lesions and decrease the incidence of anal cancer in patients with IBD.


Introducción: El carcinoma anal de células escamosas es raro, pero su incidencia y mortalidad han ido en aumento globalmente. El 90% de los casos están relacionados con la infección por el virus del papiloma humano (VPH)1,2 y los pacientes con enfermedad inflamatoria intestinal (EII) tienen un mayor riesgo de infección por este virus; se ha identificado una incidencia de 5,5 por 100.000 pacientes en el grupo de EII frente a 1,8 en el grupo sin EII3. Metodología: Se realizó un estudio descriptivo de serie de casos en el que se incluyó a 21 pacientes con EII, sin síntomas perianales, entre enero y julio de 2022 en el Instituto de Coloproctología de Medellín, a quienes se les realizó citología anal, genotipificación del VPH y anoscopia de alta resolución, previa explicación y aceptación del procedimiento. Si se encontraban lesiones, se realizaba tratamiento ablativo. Resultados: El 23% de esta cohorte tenía lesiones escamosas de bajo grado, mientras que el 14,2% presentaba lesiones de alto grado con cambios de displasia al momento de la anoscopia. El 90,4% tenían genotipificación positiva para VPH, de los cuales el 76,1% eran de alto grado. Conclusiones: Nuestro estudio sugiere que esta serie de pacientes con EII se comporta como un grupo de alto riesgo para desarrollar lesiones premalignas en asociación con el VPH. La anoscopia de alta resolución es un método rentable, indoloro y asequible que, en manos expertas, puede impactar el diagnóstico y manejo de lesiones premalignas y disminuir la incidencia de cáncer anal en pacientes con EII.

8.
Rev. chil. obstet. ginecol. (En línea) ; 88(6): 351-358, dic. 2023. ilus, tab
Article in Spanish | LILACS | ID: biblio-1530033

ABSTRACT

Objetivo: Reportar el resultado a largo plazo de una serie de fetos con agenesia del septum pellucidum aislada (ASP), con medición de su quiasma óptico mediante neurosonografía fetal (NSG). Método: Se incluyeron todas las pacientes con ASP y NSG evaluadas desde el año 2008 a la fecha y con seguimiento hasta su edad escolar. En todos los casos se consignaron los datos clínicos de NSG y de resonancia magnética (RM), cuando esta se realizó. Se entrevistó telefónicamente a los padres. Resultados: Nueve pacientes cumplieron los criterios: cuatro con displasia septo-óptica (DSO) (rango de seguimiento: 5-14 años) y cinco sin DSO (rango de seguimiento: 7-10 años). Un décimo caso se excluyó por tener solo 6 meses de seguimiento. Ninguna de las ASP tuvo otra anomalía detectada en su seguimiento. Ninguno de los casos con DSO tuvo alteración del tamaño de su quiasma óptico en la NSG ni anormalidad en la vía óptica en la RM. Conclusiones: En nuestra población, el riesgo residual de DSO frente a ASP es del 44,4%. En el seguimiento, nuestra definición de ASP por NSG no tuvo falsos negativos con relación a otras anomalías de aparición posnatal, a excepción de la DSO.


Objective: To report the long-term outcome of a series of fetuses with isolated septum pellucidum agenesis (ASP) with measurement of their optic chiasm by fetal neurosonography (NSG). Method: All patients with ASP and NSG evaluated from 2008 to date and with follow-up until their school age were included. In all cases, clinical, NSG and magnetic resonance imaging (MRI) data were recorded. Parents were interviewed by telephone. Results: Nine patients met the criteria: four with septo-optic dysplasia (SOD) (follow-up range: 5-14 years) and five without SOD (follow-up range: 7-10 years). A tenth case was excluded because only 6 months of follow-up. None of the ASP cases had another anomaly detected in their follow-up. None of the cases with DSO had anomaly of the size of their optic chiasm on NSG or abnormality in the optical pathway in the MRI. Conclusions: In our population, the residual risk of DSO versus ASP is 44.4%. At follow-up, our NSG definition of ASP had no false negatives in relation to other postnatal-onset anomalies, except for SOD.


Subject(s)
Pregnancy , Prenatal Diagnosis , Septo-Optic Dysplasia/pathology , Septo-Optic Dysplasia/diagnostic imaging , Septum Pellucidum/pathology , Septum Pellucidum/diagnostic imaging , Pregnancy Outcome , Fetal Diseases
9.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1528745

ABSTRACT

La Displasia Cemento Ósea Florida corresponde a un tipo de lesión fibro ósea caracterizada por presentar un hueso trabecular con apariencia de tejido conectivo fibroso con áreas similares al cemento radicular. Afecta principalmente a mandíbula, a mujeres y a personas de etnia africana entre la cuarta a la quinta década. Posee crecimiento limitado, presentación de forma simétrica, bilateral y capacidad de afectar de uno a más cuadrantes. Tiene tres etapas de desarrollo, que se presentan con aspecto radiográfico diferente. En la primera etapa se aprecia un área radiolúcida, en la segunda etapa se visualizan radiopacidades circunscritas al área radiolúcida; y en la tercera etapa se observa una clara radiopacidad alrededor de la lesión. Para su correcto diagnóstico se necesita una cuidadosa correlación de los hallazgos clínicos, imagenológicos, de laboratorio e histopatológicos. Se presenta el caso de una paciente de género femenino de 70 años diagnosticada con Displasia Cemento Ósea Florida.


Florid Cemento-Osseous Dysplasia is a type of fibro-osseous lesion characterized by a trabecular bone with the appearance of fibrous connective tissue with areas similar to root cement. It mainly affects the jaw, women and people of African ethnicity between the fourth and fifth decades. It has limited growth, a symmetrical, bilateral presentation and the ability to affect one or more quadrants. It has three stages of development, with different radiographic appearance. The first stage shows a radiolucent area, the second stage shows radiopacities circumscribed to the radiolucent area; and in the third stage a clear radiopacity is observed around the lesion. For its correct diagnosis, a careful correlation of clinical, imaging, laboratory and histopathological findings is needed. The case of a 70-year-old female patient diagnosed with Florid Cemento-Osseous Dysplasia is presented.

10.
Vive (El Alto) ; 6(18): 895-906, dic. 2023.
Article in Spanish | LILACS | ID: biblio-1530595

ABSTRACT

La displasia fibrosa se puede presentar, en cualquier persona, por una mutación en los primeros meses de gestación. Se trata de lesiones óseas benignas en pacientes jóvenes, en las que el tejido óseo normal es sustituido por tejido conectivo fibroso, debido a una alteración funcional de las células, siendo esta la antesala de una neoplasia. El objetivo de éste artículo es presentar un caso local de Displasia Fibrosa Maxilar, enfatizando el manejo clínico, radiográfico, pre y postoperatorio más pertinente. Por lo tanto, se describe el caso de un paciente adolescente de género masculino, afectado por displasia fibrosa en hemimaxilar derecho, a quien le fueron realizados los estudios imagenológicos e histopatológicos necesarios para obtener el diagnóstico definitivo y decidir el abordaje menos invasivo posible cumpliendo con estándares de estética facial; se realizó abordaje intrabucal para shaving óseo, con sedación consciente bajo estricta vigilancia de la especialista en anestesiología y reanimación. Una vez logrado el contorno deseado mediante el uso de piezas de mano de alta y baja velocidad, se realizó la sutura de los tejidos y el paciente egresó ambulante y con buen estado general de salud.


Fibrous dysplasia can occur in any person due to a mutation in the first months of gestation. These are benign bone lesions in young patients, in which the normal bone tissue is replaced by fibrous connective tissue, due to a functional alteration of the cells, being this the prelude to a neoplasm. The aim of this article is to present a local case of Maxillary Fibrous Dysplasia, emphasizing the most relevant clinical, radiographic, pre and postoperative management. Therefore, we describe the case of an adolescent male patient, affected by fibrous dysplasia in the right hemimaxillary, who underwent the necessary imaging and histopathological studies to obtain the definitive diagnosis and decide the least invasive approach possible in compliance with facial aesthetic standards; an intraoral approach was performed for bone shaving, with conscious sedation under strict supervision of the specialist in anesthesiology and resuscitation. Once the desired contour was achieved through the use of high and low speed handpieces, the tissues were sutured and the patient was discharged ambulatory and in good general health.


A displasia fibrosa pode ocorrer em qualquer pessoa devido a uma mutação nos primeiros meses de gestação. São lesões ósseas benignas em pacientes jovens, nas quais o tecido ósseo normal é substituído por tecido conjuntivo fibroso, devido a uma alteração funcional das células, sendo esse o prelúdio de uma neoplasia. O objetivo deste artigo é apresentar um caso local de Displasia Fibrosa Maxilar, enfatizando o manejo clínico, radiográfico, pré e pós-operatório mais pertinente. Portanto, descrevemos o caso de um paciente adolescente do sexo masculino, afetado por displasia fibrosa no hemimaxilar direito, que foi submetido aos exames de imagem e histopatológicos necessários para obter um diagnóstico definitivo e decidir sobre a abordagem menos invasiva possível, em conformidade com os padrões estéticos faciais; foi realizada uma abordagem intraoral para raspagem óssea, com sedação consciente sob estrita supervisão do especialista em anestesiologia e ressuscitação. Depois que o contorno desejado foi obtido com o uso de peças de mão de alta e baixa velocidade, os tecidos foram suturados e o paciente recebeu alta ambulatorial em bom estado geral de saúde.


Subject(s)
Humans , Male , Adolescent , Neoplasms, Fibrous Tissue
11.
Rev. chil. obstet. ginecol. (En línea) ; 88(5): 224-228, oct. 2023. ilus
Article in English | LILACS | ID: biblio-1530020

ABSTRACT

In skeletal dysplasias, there are short rib polydactyly syndromes, which traditionally differentiate into four lethal types. This report describes a case of Type III, which presented characteristics of Types I and II. A 38-year-old woman presented fetal growth restriction at 17 weeks and 6 days, decreased amniotic fluid, enlarged and hyperechogenic kidneys, and long bones below the 3rd percentile. Three weeks later, she developed anhydramnia. The couple did not consent to the performance of an invasive test for genetic diagnosis and chose to maintain the pregnancy. At 33 weeks, due to premature labor and interactivity, a cesarean section was performed, giving birth to a female baby, who died due to respiratory failure there were no vocal cords and no trachea visible at laryngoscopy. On physical examination, he had the phenotypic characteristics of the syndrome. An X-ray showed short ribs and severe pulmonary hypoplasia. After birth, the parents chose not to carry out a genetic study or an anatomical examination. Researchers have suggested that there is an intersection of the anatomical changes of the types. This case report supports this theory.


En las displasias esqueléticas, existen síndromes de polidactilia de costillas cortas, que tradicionalmente se diferencian en cuatro tipos letales. Este reporte describe un caso del tipo III, que presentó características de los tipos I y II. Mujer de 38 años con restricción del crecimiento fetal a las 17 semanas y 6 días, líquido amniótico disminuido, riñones agrandados e hiperecogénicos y huesos largos por debajo del percentil 3. Tres semanas después, desarrolló anhidramnia. La pareja no consintió en la realización de una prueba invasiva de diagnóstico genético y optó por mantener el embarazo. A las 33 semanas, debido al parto prematuro y la interactividad, se realizó una cesárea, dando a luz a un bebé, que murió debido a una insuficiencia respiratoria: no había cuerdas vocales ni tráquea visible en la laringoscopia. Al examen físico presentaba las características fenotípicas del síndrome. Una radiografía mostró costillas cortas e hipoplasia pulmonar severa. Después del nacimiento, los padres optaron por no realizar un estudio genético ni un examen anatómico. Los investigadores han sugerido que existe una intersección de los cambios anatómicos de los tipos. Este reporte de caso apoya esta teoría.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Short Rib-Polydactyly Syndrome/diagnosis
12.
Int. j. morphol ; 41(5): 1570-1574, oct. 2023. ilus, tab
Article in Spanish | LILACS | ID: biblio-1521038

ABSTRACT

En la literatura actual se encuentra escasa información referente a la fóvea de la cabeza del fémur (fóvea de la cabeza del hueso fémur). Este estudio tuvo como propósito recolectar datos morfológicos y biométricos respecto a la fóvea de la cabeza del fémur y reconocer variaciones que podrían ser de utilidad en las diversas patologías de la región. Se utilizaron 46 huesos fémures humanos pertenecientes al Departamento de Ciencias Básicas de la Universidad de La Frontera, Chile. Para la medición de datos se utilizó material ad hoc y los datos fueron analizados el programa Excel y los softwares ImageJ e Image Pro Plus. La longitud promedio de los huesos fémures fue de 43,8 ± 2,9 cm; el ángulo de torsión del cuello fue de 23,0 ± 2,0°. En el 100 % de las muestras se observó una fóvea en el cuadrante posteroinferior de la cabeza del fémur. El área promedio de la fóvea de la cabeza del fémur fue de 1,51 ± 0,7 cm2. El perímetro fue de 4,72 ± 1,0 cm; la forma de la fóvea fue: 60,9% ovalada, 23,9% triangular y 15,2 % circular, teniendo como base la fórmula derivada del índice craneal, dejando la fórmula como feret mínimo/feret máximo, con el cual los valores mayores a 0,8 se clasificaban como circulares y los menores como ovalados. Conocer la ubicación de la fóvea de la cabeza del fémur adquiere implicancia médica, ya que una fóvea en posición anormalmente alta, en imágenes radiológicas, es un indicador de displasia pélvica. La importancia de las variaciones de la fóvea de la cabeza del fémur debe ser más investigadas para una correcta comprensión de las patologías que afectan a la cabeza femoral.


SUMMARY: In the current literature there is little information regarding the fovea for ligament of head of femur. The aim of this study was to collect morphological and biometric data regarding the fovea for ligament of head of femur and recognize variations that could be useful in the various pathologies of the region. Forty six human femur bones belonging to the Department of Basic Sciences of the University of La Frontera, Chile were used. For data measurement, ad hoc material was used and the data were analyzed with the Excel program and the ImageJ and Image Pro Plus software. The average length of the femur bones was 43.8 ± 2.9 cm; the neck torsion angle was 23.0 ± 2.0°. In 100% of the samples, a fovea was observed in the posteroinferior quadrant of the head of femur. The average area of the fovea for ligament of head of femur was 1.51 ± 0.7 cm3. The perimeter was 4.72 ± 1.0 cm; The shape of the fovea was: 60.9% oval, 23.9% triangular and 15.2% circular, based on the formula derived from the cranial index, leaving the formula as minimum feret/maximum feret, with which the values greater than 0.8 were classified as circular and those less as oval. Knowing the location of the fovea for ligament of head of femur acquires medical implications, since a fovea in an abnormally high position, in radiological images, is an indicator of pelvic dysplasia. The importance of variations in the fovea for ligament of head of femur must be further investigated for a correct understanding of the pathologies that affect the femoral head.


Subject(s)
Humans , Femur/anatomy & histology , Ligaments/anatomy & histology , Femur Head/anatomy & histology , Anatomic Variation
13.
Rev. colomb. gastroenterol ; 38(3)sept. 2023.
Article in English | LILACS-Express | LILACS | ID: biblio-1535921

ABSTRACT

Aim: To establish the relationship between consuming foods considered risk factors for gastric cancer and trophic changes in gastric mucosa. Materials and methods: Cross-sectional study. We included patients older than 18 admitted for upper GI endoscopy with biopsies who adequately answered a survey of personal history and eating habits. Those with a history of gastric cancer or gastric surgical resection for any reason were excluded. The association between feeding variables and trophic changes in the gastric mucosa was estimated. Results: In a population of 1,096 patients, the average age was 51 years (standard deviation [SD]: 15.5), and 59% were women. Trophic changes in the gastric mucosa were identified in 173 patients (15.8%). No statistical association was found between the independent variables of eating habits, obesity, and positive Helicobacter pylori versus the variable "trophic changes," unlike the variable "family history of gastric cancer" (odds ratio [OR]: 1.49 95% confidence interval [CI]: 1.03-2.17, p = 0.036). One case of high-grade dysplasia was detected in the study population (0.91 cases in 1,000 patients). Conclusions: No association was established between eating habits and trophic changes in the gastric mucosa in the studied population. A family history of gastric cancer is a statistically significant risk factor for developing atrophy, metaplasia, or dysplasia changes.


Objetivo: establecer la relación entre el consumo de alimentos considerados como factores de riesgo para cáncer gástrico y la presencia de cambios tróficos de la mucosa gástrica. Materiales y métodos: estudio de corte transversal. Se incluyeron los pacientes mayores de 18 años admitidos para realización de endoscopia digestiva superior con toma de biopsias que respondieron adecuadamente una encuesta de antecedentes personales y hábitos de alimentación. Se excluyeron aquellos con antecedente de cáncer gástrico o resección quirúrgica gástrica por cualquier motivo. Se estimó la asociación entre las variables de alimentación y la presencia de cambios tróficos de la mucosa gástrica. Resultados: en una población de 1096 pacientes, el promedio de la edad fue 51 años (desviación estándar [DE]: 15,5), y correspondió en un 59% a mujeres. Se identificaron cambios tróficos de la mucosa gástrica en 173 pacientes (15,8%). No se obtuvo asociación estadística entre las variables independientes de hábitos de alimentación, obesidad y Helicobacter pylori positivo frente a la variable "cambios tróficos", a diferencia de la variable "antecedente familiar de cáncer gástrico" (odds ratio [OR]: 1,49; intervalo de confianza [IC] 95%: 1,03-2,17; p = 0,036). Se obtuvo 1 caso de displasia de alto grado en la población estudiada (0,91 casos en 1000 pacientes). Conclusiones: no se estableció una asociación entre los hábitos de alimentación y la presencia de cambios tróficos de la mucosa gástrica en la población estudiada. El antecedente familiar de cáncer gástrico se muestra como un factor de riesgo estadísticamente significativo para el desarrollo de cambios de atrofia, metaplasia o displasia.

14.
Biomédica (Bogotá) ; 43(Supl. 1)ago. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1550070

ABSTRACT

Introducción. El cáncer de cuello uterino es un problema de salud pública relevante en países de ingresos medios y bajos. El seguimiento de mujeres con tamización positiva y el acceso a tratamiento para neoplasia intraepitelial cervical (NIC) son retos mayores en estos países. Objetivo. Evaluar la efectividad de la crioterapia suministrada por enfermeras en casos de neoplasia intraepitelial de cérvix. Materiales y métodos. Se hizo la inspección visual directa con ácido acético y solución yodada (VIA-VILI), y se practicó colposcopia con biopsia, a mujeres entre los 25 y los 59 años, residentes en zonas de bajos ingresos de Bogotá. Profesionales de enfermería entrenados ofrecieron tratamiento inmediato con crioterapia a mujeres positivas en la inspección visual. Se les practicó colposcopia con biopsia antes del tratamiento y en un control a los 12 meses. Se evaluó la efectividad mediante tasas de curación (resultado: sin lesión) y regresión de NIC2/3 (resultado: ≤NIC1), por verificación colposcópica e histológica. Resultados. Se tamizaron 4.957 mujeres. En total, 499 fueron positivas y 472 aceptaron el tratamiento inmediato. Recibieron crioterapia por enfermería 365 mujeres (11 NIC2/3). La tasa de curación fue del 72 % (IC95%: 39-94 %) por verificación colposcópica, y del 40 % (IC95%: 22-85 %) por histología. Las tasas de regresión fueron del 100 y el 60 %, respectivamente. Se reportaron dos eventos adversos no graves relacionados. Conclusiones. Las tasas de curación y regresión por verificación colposcópica son similares a las reportadas con crioterapia administrada por médicos. El tamaño de la muestra con NIC2/3 dificulta la comparación por tipo de verificación. Los hallazgos apoyan la implementación de estrategias de "ver y tratar" por parte de enfermería en poblaciones con acceso limitado a servicios de salud.


Introduction. Cervical cancer is a relevant public health problem for low- and middleincome countries. Follow-up of positive-screened women and compliance with treatment of precancerous lesions are major challenges for these settings. Objective. To evaluate the efficacy of cryotherapy delivered by nurses for cervical intraepithelial neoplasia (CIN). Materials and methods. Direct visual inspection with acetic acid and lugol iodine (VIA- VILI), and colposcopy/biopsy were performed on women 25 to 59 years old, residents of low-income areas in Bogotá, Colombia. Trained nurses offered immediate cryotherapy to every woman with positive visual inspection. Colposcopy/biopsy was performed before treatment and at a 12-month follow-up. The effectiveness was measured as cure (outcome: no-lesion) and regression (outcome: CIN1) rates of CIN2/3 using colposcopic and histological verification. Results. A group of 4.957 women with VIA/VILI was valuated. In total, 499 were screen positive and 472 accepted immediate treatment. A total of 365 women (11 CIN2/3) received cryotherapy by nurses. Cure rate was 72% (95%CI: 39%-94%) and 40% (95%CI: 22%- 85%) by colposcopic and histological verification, respectively. Regression rates were 100% and 60%. There were two related non-serious adverse events. Conclusions. Cure and regression rates by colposcopic verification are like those reported for cryotherapy delivered by doctors. The sample size (CIN2/3) hinders comparisons by type of verification. Our findings support the implementation of screen-and-treat algorithms by nurses among populations with limited access to health services.

15.
Indian J Pathol Microbiol ; 2023 Jun; 66(2): 332-338
Article | IMSEAR | ID: sea-223442

ABSTRACT

Background: The extracellular matrix (ECM) is a dynamic tissue that provides nutrition and support to overlying epithelium. During tumorigenesis, the tumor microenvironment (TME) dysregulates the ECM. This is reflected by morphological changes seen in collagen and elastic fibers and is thought to facilitate metastasis. Aim: To study the degradation of elastic fibers in different grades of oral squamous cell carcinoma (OSCC) and in oral epithelial dysplasia (OED) using histochemistry and to correlate it to the TNM stage of OSCC. Materials and Methods: Tumor cores from 38 cases of OSCC (well-differentiated[15], moderately differentiated[14], and poorly differentiated[9]) and 15 incisional biopsies of OED were analyzed. Hematoxylin-eosin and Verhoeff's–Van Gieson (VVG) stains were used. The stained sections were assessed for morphological changes in elastic fibers. Statistical Analysis: Data were analyzed using Statistical Package for Social Sciences (SPSS) version 22 software. Fisher's exact, Kruskal–Wallis, one-way ANOVA, and Turkey post hoc tests were used to establish significance (P ? 0.05). Spearman's correlation test was used to correlate elastin fiber degradation with TNM stage of OSCC. Results: All grades of OSCC showed absence of elastic fibers around the tumor islands. Elastic fiber degradation (fragmented and clumped type fibers) increased proportionately with the grade and TNM stage of OSCC. In OED, A significant reduction in the amount of elastic fibers with increasing grade was noted. Conclusion: A positive correlation was noted between elastin degradation and grade and stage of OSCC. Therefore, it may be implicated in tumor progression of OSCC.

16.
Article | IMSEAR | ID: sea-223546

ABSTRACT

Background & objectives: Developmental dysplasia of the hip (DDH), when detected early, can usually be managed effectively by simple methods. A delayed diagnosis often makes it a complex condition to treat. Late presentation of DDH is fairly common in developing countries, and there is scarcity of literature regarding the epidemiology and reason for late presentation. Through this study, we attempted to identify the reasons for late presentation of DDH in children more than 12 months of age. Methods: Fifty four children with typical DDH and frank dislocation of hip in whom treatment was delayed for 12 months or more were included. Parents were interviewed with a pre-structured questionnaire and data were collected for analysis with Microsoft Excel 2016 and SPSS version 26. Results: Diagnostic delay was the most common reason for late presentation and was observed in 52 children (96.2%). The mean age at diagnosis was 24.7 months. The mean age at treatment was 37.3 months with a mean delay of 12.5 months from diagnosis and 22.1 months from initial suspicion. Physician-related factors contributed 55.3 per cent, while family and social issues accounted for 44.7 per cent of overall reasons for diagnostic and treatment delays. Interpretation & conclusions: Late presentation of DDH in walking age is common. Physician- and family-related factors accounted for most of these cases. Failure or inadequate hip screening at birth by the attending physician is a common reason for late diagnosis. The family members were unaware about the disorder and developed suspicion once child started walking with an abnormal gait

17.
J. pediatr. (Rio J.) ; 99(2): 105-111, Mar.-Apr. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1430709

ABSTRACT

Abstract Objective: Among the mechanisms proposed for the development of bronchopulmonary dysplasia is the increase in the pulmonary inflammatory process and oxidative stress. Thus, the control of this process may result in improvements in bronchopulmonary dysplasia-related outcomes. This study aims to analyze the current scientific evidence regarding the use of budesonide, a potent anti-inflammatory drug, associated with a pulmonary surfactant to prevent bronchopulmonary dysplasia. Methods: A systematic review of the literature was performed on the Embase and MEDLINE platforms, and studies that compared budesonide with pulmonary surfactant versus pulmonary surfactant for treating respiratory distress syndrome were included. The primary outcome was a reduction in bronchopulmonary dysplasia or death. Results: Four randomized clinical trials and two observational studies were included in this systematic review. Three of the randomized clinical trials found a reduction in bronchopulmonary dysplasia or death in the use of budesonide with the surfactant, all the other studies (1 clinical trial and 2 observational studies) found no statistical differences between the groups for the primary outcomes. The three main studies showed a reduction in the primary outcome; however, all studies showed great heterogeneity regarding the type of surfactant (poractant or beractant) and the method of administration. Conclusion: Robust clinical studies, in a heterogeneous population, using porcine surfactant associated with budesonide, with administration by a minimally invasive technique are necessary for there to be a recommendation based on scientific evidence for its widespread use.

18.
São Paulo med. j ; 141(2): 154-167, Mar.-Apr. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1424663

ABSTRACT

ABSTRACT BACKGROUND: Developmental dysplasia of the hip (DDH) encompasses a broad spectrum of hip pathologies, including femoral or acetabular dysplasia, hip instability, or both. According to the medical literature, ultrasonography is the most reliable diagnostic method for DDH. Several techniques for the assessment of hips in newborns and infants, using ultrasonography, have been described. OBJECTIVE: To compare the accuracy of the Graf technique and other diagnostic techniques for DDH. DESIGN AND SETTING: A systematic review of studies that analyzed ultrasound techniques for the diagnosis of DDH within an evidence-based health program of a federal university in São Paulo (SP), Brazil. METHODS: A systematic search of relevant literature was conducted in the PubMed, EMBASE, Cochrane Library, CINAHL, and LILACS databases for articles published up to May 5, 2020, relating to studies evaluating the diagnostic accuracy of different ultrasound techniques for diagnosing DDH. The QUADAS 2 tool was used for methodological quality evaluation. RESULTS: All hips were analyzed using the Graf method as a reference standard. The Morin technique had the highest rate of sensitivity, at 81.12-89.47%. The Suzuki and Stress tests showed 100% specificity. The Harcke technique showed a sensibility of 18.21% and specificity of 99.32%. CONCLUSION: All the techniques demonstrated at least one rate (sensibility and specificity) lower than 90.00% when compared to the Graf method. The Morin technique, as evaluated in this systematic review, is recommended after the Graf method because it has the highest sensitivity, especially with the three-pattern classification of 89.47%. REGISTRATION NUMBER: Identifier: CRD42020189686 at the International Prospective Register of Systematic Reviews (identifier: CRD42020189686).

19.
Article | IMSEAR | ID: sea-218809

ABSTRACT

Cleidocranial Dysplasia (CCD) is a rare autosomal dominant condition which is mainly characterised by skeletal abnormalties like hypoplastic or aplastic clavicles, increase in transverse diameter of the cranium, delayed closure of fontanelles with presence of open sutures and skeletal changes in maxilla and mandible. 2,4 These patients usually presents with delayed exfoliation of deciduous teeth, delayed or failed eruption of the permanent dentition with multiple supernumerary teeth, protruding mandible and mid- face retrusion.2 We present a case report of a 16 year old girl undergoing multiple surgical exposure of impacted permanent teeth under conscious sedation so as to move them in normal occlusion with orthodontic traction.

20.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 69(2): 262-266, Feb. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1422643

ABSTRACT

SUMMARY OBJECTIVE: This study aimed to explore the risk factors of bronchopulmonary dysplasia in premature infants and the clinical application value of lung ultrasound in the diagnosis of bronchopulmonary dysplasia. METHODS: A total of 80 premature infants with a gestational age of <32 weeks or a birth weight of <1,500 g who were treated in our hospital from January to August 2021 were randomly divided into a bronchopulmonary dysplasia group (n=12) and a non-bronchopulmonary dysplasia group (n=62). The clinical data, lung ultrasound, and X-ray image characteristics of the two groups were compared. RESULTS: Among the 74 preterm infants, 12 preterm infants were diagnosed with bronchopulmonary dysplasia, and 62 preterm infants were determined not to have bronchopulmonary dysplasia. There were significant differences in sex, severe asphyxia, invasive mechanical ventilation, premature membrane ruptures, and intrauterine infection between the two groups (p<0.05). Lung ultrasound showed abnormal pleural lines and alveolar-interstitial syndrome in all 12 patients with bronchopulmonary dysplasia and vesicle inflatable signs in 3 patients. Before clinical diagnosis, the accuracy, sensitivity, specificity, positive predictive value, and negative predictive value of lung ultrasound in the diagnosis of bronchopulmonary dysplasia were 98.65, 100, 98.39, 92.31, and 100%, respectively. The accuracy, sensitivity, specificity, positive predictive value, and negative predictive value of X-rays in the diagnosis of bronchopulmonary dysplasia were 85.14, 75.00, 87.10, 52.94, and 94.74%, respectively. CONCLUSION: The diagnostic efficiency of lung ultrasound for premature bronchopulmonary dysplasia is better than that of X-rays. The application of lung ultrasound can screen patients with bronchopulmonary dysplasia early for timely intervention.

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