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1.
Nutrients ; 16(6)2024 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-38542696

RESUMO

NAFLD has become the leading cause of chronic liver disease in children, as a direct consequence of the high prevalence of childhood obesity. This study aimed to characterize body composition trajectories from childhood to adolescence and their association with the risk of developing nonalcoholic fatty liver disease (NAFLD) during adolescence. The participants were part of the 'Chilean Growth and Obesity Cohort Study', comprising 784 children who were followed prospectively from age 3 years. Annual assessments of nutritional status and body composition were conducted, with ultrasound screening for NAFLD during adolescence revealing a 9.8% prevalence. Higher waist circumference measures were associated with NAFLD from age 3 years (p = 0.03), all skin folds from age 4 years (p < 0.01), and DXA body fat measurements from age 12 years (p = 0.01). The fat-free mass index was higher in females (p = 0.006) but not in males (p = 0.211). The second and third tertiles of the fat mass index (FMI) had odds ratios for NAFLD during adolescence of 2.19 (1.48-3.25, 95% CI) and 6.94 (4.79-10.04, 95% CI), respectively. Elevated waist circumference, skin folds, and total body fat were identified as risk factors for future NAFLD development. A higher FMI during childhood was associated with an increased risk of NAFLD during adolescence.


Assuntos
Hepatopatia Gordurosa não Alcoólica , Obesidade Infantil , Masculino , Feminino , Humanos , Adolescente , Criança , Pré-Escolar , Hepatopatia Gordurosa não Alcoólica/etiologia , Estudos de Coortes , Obesidade Infantil/complicações , Fatores de Risco , Composição Corporal , Índice de Massa Corporal
2.
Transpl Immunol ; 83: 102013, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38395087

RESUMO

Takayasu arteritis (TA) is a large-vessel vasculitis that rarely presents in infancy. Casitas B-lineage lymphoma (CBL) syndrome is a rare genetic disorder due to heterozygous CBL gene germline pathogenic variants that is characterized by a predisposition to develop juvenile myelomonocytic leukemia (JMML). Vasculitis, including TA, has been reported in several patients. Herein, we describe a patient with CBL syndrome, JMML, and TA, developing long-term remission of this vasculitis after allogeneic hematopoietic stem cell transplant (HSCT), and perform a literature review of CBL syndrome with vasculitis or vasculopathy. We report a female patient with growth delay, developmental issues, and congenital heart disease who was admitted at 14 months of age with massive splenomegaly, lymphadenopathy, fever, and hypertension. Body imaging studies revealed arterial stenosis and wall inflammation of the aorta and multiple thoracic and abdominal branches. Whole exome sequencing revealed a pathogenic variant in CBL with loss of heterozygosity in blood cells, diagnosing CBL syndrome, complicated by JMML and TA. Allogeneic HSCT induced remission of JMML and TA, permitting discontinuation of immunosuppression after 12 months. Six years later, her TA is in complete remission off therapy. A literature review identified 18 additional cases of CBL syndrome with vasculitis or vasculopathy. The pathogenesis of vasculitis in CBL syndrome appears to involve dysregulated T cell function and possibly increased angiogenesis. This case advances the understanding of vascular involvement in CBL syndrome and of the genetic, immune, and vascular interplay in TA, offering insights for treating CBL syndrome and broader TA.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Leucemia Mielomonocítica Juvenil , Arterite de Takayasu , Humanos , Feminino , Arterite de Takayasu/complicações , Leucemia Mielomonocítica Juvenil/diagnóstico , Leucemia Mielomonocítica Juvenil/genética , Leucemia Mielomonocítica Juvenil/terapia , Transplante de Células-Tronco Hematopoéticas/métodos , Mutação em Linhagem Germinativa , Células Germinativas
3.
J Environ Qual ; 53(2): 253-264, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38384182

RESUMO

Water quality regulations entail a substantial commitment of resources from governments and private entities. It is important to continually evaluate the effectiveness of these regulations to ensure they are having the intended impact. In this paper, we evaluated nutrient data as indicators of primary productivity and dissolved oxygen (DO) concentrations and pH as response variables to assess historical water quality trends from 55 stations of Puerto Rico. The stations were divided into impaired versus non-impaired categories based on their historical total phosphorus (TP) mean concentration. Mean TP and total nitrogen (TN) concentrations were significantly higher in the impaired stations relative to the non-impaired stations. In contrast, DO mean concentrations and mean pH values were significantly lower in the impaired stations. A generalized additive mixed model was used to demonstrate temporal trends. A significant decrease in TP and TN concentrations was observed with time at the impaired stations. This was accompanied by significant increases in DO concentrations and pH. The non-impaired stations showed a marginal (statistically nonsignificant) decreasing trend with time. The large reductions in nutrient concentrations observed at the impaired stations seem to be related to the closure of several primary wastewater treatment plants (WWTPs) across the island. The conversion of abandoned crop agricultural lands into secondary forest in recent decades has resulted in small but significant decreases in TN (not TP) in receiving streams. We conclude that the Clean Water Act has promoted improvements in water quality in Puerto Rico by advancing upgrades in sanitary infrastructure and the regulation of point sources of pollution.


Assuntos
Poluentes Químicos da Água , Qualidade da Água , Poluentes Químicos da Água/análise , Monitoramento Ambiental/métodos , Porto Rico , Fósforo/análise , Nitrogênio/análise , China
4.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1535909

RESUMO

Introduction: Laparoscopic Heller myotomy (LHM) is widely recognized as the standard surgical treatment for esophageal achalasia. However, there is a lack of local data regarding the clinical characteristics of patients and the outcomes of this intervention. Methodology: This retrospective study analyzed patients who underwent LHM over an eight-year period. Demographic, operative, and postoperative variables were assessed. The Eckardt score was used to compare symptoms before and after the intervention. Continuous variables were presented as means. Results: Among the 39 patients assessed, 27 met the inclusion criteria. Of these, 51% were male, with an average age of 48 years. The average lower esophageal sphincter pressure was 36 mmHg. The mean operative time and bleeding were 133 minutes and 34 mL, respectively. The average length of the myotomy was 8.3 cm. Partial fundoplication was performed in all cases, and intraoperative endoscopy was conducted in 88% of the cases. Two intraoperative mucosal perforations occurred. The average length of hospital stay was 2.7 days. There was one medical complication but no mortality. Dysphagia significantly improved by 95%, and the mean Eckardt score decreased from 7.7 to 1.2 after surgery (p < 0.001). The average follow-up period was 24 months. Conclusion: LHM with partial fundoplication proves to be an effective and safe procedure for treating achalasia. It results in the resolution of dysphagia in 95% of cases and carries minimal morbidity. Therefore, LHM should be considered the definitive treatment of choice for achalasia.


Introducción: la miotomía de Heller laparoscópica (MHL) se considera el tratamiento quirúrgico estándar en acalasia esofágica. A nivel local se desconocen las características clínicas de los pacientes y los resultados de la intervención. Metodología: estudio retrospectivo que incluye pacientes llevados a MHL durante un periodo de 8 años. Se analizaron variables demográficas, operatorias y posoperatorias. Mediante el puntaje de Eckardt se compararon síntomas antes y después de la intervención. Las variables continuas se expresan en promedios. Resultados: 27 de 39 pacientes cumplieron los criterios de inclusión. El 51% fueron hombres y el promedio de edad fue de 48 años. La presión promedio del esfínter esofágico inferior fue de 36 mm Hg. El promedio de tiempo operatorio y sangrado fue de 133 minutos y 34 mL, respectivamente. La longitud promedio de la miotomía fue de 8,3 cm. Se adicionó funduplicatura parcial en todos los casos y en el 88% se realizó una endoscopia intraoperatoria. Se presentaron 2 perforaciones intraoperatorias de la mucosa. El promedio de estancia hospitalaria fue 2,7 días. Hubo una complicación médica y ninguna mortalidad. La disfagia mejoró en el 95% y el promedio del puntaje de Eckardt disminuyó de 7,7 a 1,2 luego de cirugía (p < 0,001). El seguimiento fue de 24 meses en promedio. Conclusión: la MHL con funduplicatura parcial es un procedimiento efectivo y seguro para el tratamiento de la acalasia. Se asocia a resolución de la disfagia en el 95% de los casos, su morbilidad es mínima y debe considerarse el tratamiento definitivo de elección.

5.
Rev. méd. (La Paz) ; 29(1): 69-74, 2023. Ilus
Artigo em Espanhol | LILACS | ID: biblio-1450167

RESUMO

El linfoma de células T/NK tiene una frecuencia de presentación inusual, caracterizado por una progresión rápida y de mal pronóstico. Ocurrencia aludida a regiones de Asia y Latinoamérica por la fuerte incidencia de infección por el virus de Epstein- Barr. Su presentación puede ser nasal o en otra localización. Los esquemas de tratamiento suelen conllevar respuestas insuficientes, empero protocolos con base en L-Asparaginasa reflejarían mejores resultados. El presente reporte corresponde a 4 casos de este tipo de linfoma, 2 de tipo nasal y 2 de diversa presentación. Todos evolucionaron desfavorablemente, en parte por el mal pronóstico atribuido y también por el diagnóstico suscitado en etapas avanzadas de enfermedad concatenadas a dificultades económicas para sostener el tratamiento, factores intervinientes en nuestro medio.


NK/T cell lymphoma is an unusual neoplasm, characterized by fast progression and poor prognosis. It is present in regions of Asia and Latin America associated to a high incidence of Epstein-Barr virus infection. Its presentation can be nasal or in another location. Treatment schemes usually lead to insufficient responses, however protocols based on L-Asparaginase would reflect better results. This report concerns 4 cases of this lymphoma, 2 nasal type and 2 of a different presentation. Patients responses were unfavorable, partly due to the poor prognosis att r ibuted and also due to the diagnosis raised in advanced stages of the disease as well as to economic difficulties to sustain treatment, intervening factors in our country.

6.
Rev Med Chil ; 151(8): 971-979, 2023 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-39093189

RESUMO

BACKGROUND: Traditionally, diabetes management has involved a face-to-face meeting between the doctor and the patient. However, incorporating new tools such as telemedicine into clinical practice may be beneficial for controlling this disease. OBJECTIVE: To describe, according to sociodemographic and clinical characteristics, the people treated through telemedicine by the diabetes cell of the Digital Hospital in Chile. MATERIAL AND METHOD: descriptive study with secondary data of 1427 people from the clinical registry of the diabetes cell of the Digital Hospital. The analysis included percentages, measures of central tendency, and X2 or UMann-Whitney test (p-value < 0.05) to test for independence between gender strata. RESULTS: 61% of the people were women, and the median age was 62 years. About 65% presented arterial hypertension and/or dyslipidemia, almost 55% of adults presented obesity, and more than 90% did not perform physical activity. More than 80% use insulin, and just over 45% of adults have HbA1c > 10%. Approximately 20% presented retinopathy, 17% neuropathy, and 13% risk offoot ulceration. Almost 45% of those diagnosed with nephropathy had a prognosis of very high-risk chronic kidney disease. CONCLUSION: The people who are treated through telemedicine by the diabetes cell of the Digital Hospital are mostly women and older adults from Familiy Health Care Centres (CESFAM), who present comorbidities, use insulin, are sedentary, have malnutrition due to excess, deficient metabolic control and their main diabetic complication is retinopathy.


Assuntos
Telemedicina , Humanos , Feminino , Masculino , Chile/epidemiologia , Pessoa de Meia-Idade , Telemedicina/estatística & dados numéricos , Idoso , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/terapia , Adulto , Fatores Socioeconômicos , Fatores Sociodemográficos , Distribuição por Sexo , Adulto Jovem
7.
Pediatr Radiol ; 52(9): 1687-1705, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35821441

RESUMO

Skin lesions are not uncommon in children, and most of them are benign. However, they can be a matter of concern. Although in most cases the diagnosis can be suspected based on clinical history and physical examination, in some cases clinical findings are nonspecific. High-frequency color Doppler US is a noninvasive technique that can play a relevant role in these cases and give important anatomical information for final clinical management. US can be helpful to avoid unnecessary surgery, plan a surgical excision and avoid advanced imaging studies such as MRI and CT, which have a lower resolution for the skin. Different lesions can look similar on US, and clinical correlation is always important. The purpose of this article is to show a variety of skin lesions that occur in children, emphasizing clinical-sonographic correlation, and to familiarize pediatric radiologists with the US technique and sonographic appearance of common skin lesions in children.


Assuntos
Imageamento por Ressonância Magnética , Pele , Criança , Humanos , Pele/diagnóstico por imagem , Ultrassonografia , Ultrassonografia Doppler em Cores/métodos
8.
Rev.chil.ortop.traumatol. ; 63(1): 17-24, apr.2022. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1435557

RESUMO

OBJETIVO Dar a conocer nuestra experiencia en el diagnóstico diferencial de los quistes óseos simple y aneurismático mediante estudio radiológico simple. MATERIALES Y METODOS Se incluyeron pacientes menores de 20 años con radiografía de quiste óseo simple o aneurismático histológicamente confirmado pertenecientes al Registro Nacional de Tumores Óseos. Las radiografías fueron analizadas por dos radiólogos experimentados. Se compararon las variables demográficas de los pacientes, y las variables clínicas y radiológicas de ambos quistes. RESULTADOS Un total de 97 pacientes cumplieron los criterios de inclusión (65% presentaba quistes óseos simples y 35%, aneurismáticos). No se observaron diferencias en cuanto a la edad, al hueso comprometido, al tamaño de la lesión, a la expansión ósea, ni al adelgazamiento cortical. El género, la forma de presentación, la presencia de interrupción de la cortical, y la localización de la lesión en los ejes longitudinal y transversal del hueso son parámetros que podrían ser útiles en el diagnóstico diferencial de ambos quistes. DISCUSIÓN Los quistes óseos simple y aneurismático son lesiones benignas frecuentes que, de acuerdo con la literatura, serían difíciles de diferenciar únicamente con radiografía simple. La resonancia magnética permite una mejor caracterización anatómica, y aporta sensibilidad y especificidad al diagnóstico. Sin embargo, debe ser precedida por la radiografía simple, y su disponibilidad es limitada. CONCLUSIÓN Aun en centros con disponibilidad de resonancia magnética, la radiografía simple sigue siendo el estudio inicial de elección en el diagnóstico de tumores óseos. Ciertas características demográficas y radiográficas permiten orientar el diagnóstico diferencial inicial entre el quiste óseo simple y el aneurismático


OBJETIVE To describe our experience in the differential diagnosis of unicameral and aneurysmal bone cysts using plain radiography. PATIENCES AND METHODS We included patients under 20 years of age with radiographs of histologically-confirmed unicameral or aneurysmal bone cysts found on the Chilean National Bone-Tumor Registry. The radiographs were evaluated by two experienced radiologists. We compared the demographic variables of the patients, and the clinical and radiological variables of both tumors.. RESULTADOS A total of 97 patients met the inclusion criteria, 65% of whom had simple bone cysts, and 35%, aneurysmal bone cysts. No differences were found regarding age, the bone affected, the size of the lesion, bone expansion, nor cortical thinning. Gender, clinical presentation, cortical interruption, and location of the lesion on the longitudinal and transverse bone axes are parameters that could be used in the differential diagnosis of both cysts. DISCUSSION According to the literature, unicameral and aneurysmal bone cysts are frequent benign lesions that are difficult to differentiate merely through plain radiographs. Magnetic resonance imaging enables a better anatomical characterization and provides sensitivity and specificity to the diagnosis. However, its availability is limited, and it should be preceded by plain radiography. CONCLUSION Plain radiography is still the initial imaging study of choice in patients with clinical suspicion of bone tumor, even in those centers where magnetic resonance imaging is available. Certain demographic and radiological characteristics guide physicians in the differential diagnosis of unicameral and aneurysmal bone cysts.


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto , Cistos Ósseos/diagnóstico por imagem , Cistos Ósseos Aneurismáticos/diagnóstico por imagem , Radiografia/métodos
9.
Rev. chil. infectol ; Rev. chil. infectol;39(4): 477-482, 2022. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1407810

RESUMO

Resumen Actinomyces spp es una familia de bacilos grampositivos saprofíticos que rara vez producen infecciones en el ser humano. Actinomyces odontolyticus forma parte de la microbiota oral y existen escasos reportes de casos de infecciones asociadas a este microorganismo, principalmente de localización oral, torácica, pélvica y bacteremias. Estas infecciones se caracterizan por ser recidivantes y causar abscesos y trayectos fistulosos. Su aislamiento microbiológico es difícil ya que la mayoría de los equipos automatizados no identifican la especie de Actinomyces, por lo que técnicas como MALDI-TOF MS resulta de gran ayuda en el diagnóstico definitivo. Finalmente, el tratamiento antibacteriano debe ser prolongado, acompañado del drenaje quirúrgico de las colecciones. Presentamos dos casos de infección abdominal recurrente por A. odontolyticus, en pacientes inmunocompetentes, con tratamiento exitoso.


Abstract Actinomyces spp is a family of saprophytic gram-positive rods that rarely cause infections in humans. Actinomyces odontolyticus is part of the oral microbiota and there are few case reports of infections associated, mainly oral, thoracic, pelvic involvement and bacteremia. These infections are characterized by being recurrent and causing abscesses and fistulous tracts. Microbiological isolation of the microorganism is difficult because most of the automated identification equipment does not detect the Actinomyces species. The use of identification techniques such as MALDI-TOF MS is a great help in the definitive diagnosis. Finally, antibacterial treatment should be prolonged, and accompanied by surgical drainage of the collections. We report two cases of recurrent abdominal infection by A. odontolyticus, in immunocompetent patients, with successful treatment.


Assuntos
Humanos , Masculino , Feminino , Adulto , Idoso , Actinomicose/microbiologia , Actinomicose/diagnóstico por imagem , Parede Abdominal/microbiologia , Recidiva , Actinomyces/isolamento & purificação , Actinomicose/terapia , Drenagem , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Antibacterianos/uso terapêutico
10.
Infect Dis Rep ; 13(3): 835-842, 2021 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-34563000

RESUMO

(1) Background: Few reports of necrotizing pneumonia in patients with COVID-19 have been published. We have observed an elevated incidence at two hospitals in our city, suggesting this complication is not uncommon, and may have been overlooked. (2) Methods: This article presents a retrospective, descriptive cohort study that was undertaken from 22 March 2020 to 15 June 2021 in two tertiary care hospitals in Medellín, Colombia. All adult patients admitted to the intensive care unit (ICU) for respiratory failure related to confirmed COVID-19, on invasive mechanical ventilation (IMV), with imaging or surgical findings documenting necrotizing pneumonia (NP) were included. (3) Results: Of 936 patients with COVID-19 that required IMV, 42 (4.5%) developed NP. Overall mortality was 57% and in-hospital mortality was 71%, occurring 15-79 days after COVID-19 diagnosis. NP was diagnosed at a median of 27 days after COVID-19 symptom onset and 15.5 days after initiation of IMV. Infections were polymicrobial in 52.4% of patients. Klebsiella pneumoniae (57%) and Pseudomonas aeruginosa (33%) were the most common etiologic agents. Pulmonary embolism (PE) was documented in 13 patients overall (31%), and in 50% of patients who underwent an angioCT. Drainage and/or surgical procedures were performed on 19 patients (45.2%) with a 75% mortality rate. (4) Conclusions: In our experience, NP is a relatively common, albeit neglected, complication in mechanically ventilated COVID-19 patients, possibly originating in poorly vascularized areas of lung parenchyma. Associated mortality is high. Although drainage procedures did not seem to favorably impact patient outcomes, diagnosis and treatment were late events in the overall disease course, suggesting that early recognition and timely treatment could have a positive impact on prognosis.

11.
Sensors (Basel) ; 21(13)2021 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-34206874

RESUMO

Sensor devices that act in the IoT architecture perception layer are characterized by low data processing and storage capacity. These reduced capabilities make the system ubiquitous and lightweight, but considerably reduce its security. The IoT-based Food Traceability Systems (FTS), aimed at ensuring food safety and quality, serve as a motivating scenario for BIoTS development and deployment; therefore, security challenges and gaps related with data integrity are analyzed from this perspective. This paper proposes the BIoTS hardware design that contains some modules built-in VHDL (SHA-256, PoW, and SD-Memory) and other peripheral electronic devices to provide capabilities to the perception layer by implementing the blockchain architecture's security requirements in an IoT device. The proposed hardware is implemented on FPGA Altera DE0-Nano. BIoTS can participate as a miner in the blockchain network through Smart Contracts and solve security issues related to data integrity and data traceability in an Blockchain-IoT system. Blockchain algorithms implemented in IoT hardware opens a path to IoT devices' security and ensures participation in data validation inside a food certification process.


Assuntos
Blockchain , Algoritmos , Ecossistema
12.
Trauma Case Rep ; 32: 100421, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33665314

RESUMO

The high incidence and prevalence of facial trauma makes it important to consider related injuries and possible complications that may arise as a result. Penetrating trauma to the face, although not common, requires a surgeon with knowledge of the anatomy and physiology of the injured area and injury patterns. We present a case of penetrating trauma to the face that was caused by a blunt object (stake) resulting from the felling of a palm tree. We describe the transoral management that was performed and the multidisciplinary support that allowed optimal management of the injury without complications, including functional or aesthetic sequelae.

13.
Cir Cir ; 89(2): 258-262, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33784287

RESUMO

ANTECEDENTES: La pancreatitis es una enfermedad rara. La obstrucción es común y se puede corregir con endoscopia; si fracasa, necesitará cirugía. CASO CLÍNICO: Reportamos un paciente con pancreatitis secundaria a páncreas divisum. Se realizó derivación tipo DuVal laparoscópica. Varón de 12 años, con múltiples cuadros de pancreatitis y fallidos intentos de esfinteroplastias. La colangiorresonancia mostró páncreas divisum. Se realizó una derivación tipo DuVal por laparoscopia. Seguimiento de 5 años. No ha habido recurrencia del dolor y la lipasa se normalizó a los 6 meses. El conducto pancreático no estaba dilatado. Ante la dificultad para hacer una anastomosis lateral se utilizó la técnica laparoscópica propuesta por DuVal. BACKGROUND: Pancreatitis is rare. Obstruction is common. They can be corrected with endoscopy, if they fail they need surgery. CASE REPORT: We reported a patient with pancreatitis secondary to pancreas divisum, laparoscopic DuVal shunt was performed. Male 12 years, multiple pancreatitis pictures and failed sphinteroplasty attempts. Colangio resonance showed pancreas divisum. A DuVal-type shunt was built for laparoscopy. Follow-up 5 years. There has been no recurrence of pain and lipase was normalized at 6 months. The pancreatic duct was not dilated, in the face of difficulty making a lateral anastomosis was used the technique proposed by DuVal by laparoscopic approach.


Assuntos
Laparoscopia , Pancreatite Crônica , Anastomose Cirúrgica , Criança , Humanos , Masculino , Recidiva Local de Neoplasia , Pancreatite Crônica/cirurgia , Estudos Retrospectivos
14.
Am J Med Genet C Semin Med Genet ; 184(4): 986-995, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33219737

RESUMO

Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the care of these patients. From the epidemiological point of view, the SD prevalence of 3.2 per 10,000 births from nine South American countries included in the ECLAMC network represents the most accurate estimate not just in Latin America, but worldwide. In Brazil, there are currently five groups focused on SD. The data from one of these groups including the website www.ocd.med.br, created to assist in the diagnosis of SD, are highlighted showing that telemedicine for this purpose represents a good strategy for the region. The experience of more than 30 years of the SD multidisciplinary clinic in an Argentinian Hospital is presented, evidencing a solid experience mainly in the follow-up of the most frequent SD, especially those belonging the FGFR3 group and OI. In Chile, a group with 20 years of experience presents its work with geneticists and pediatricians, focusing on diagnostic purposes and clinical management. Altogether, although SD health-care and research activities in Latin America are in their early stages, the experience in these three countries seems promising and stimulating for the region as a whole.


Assuntos
Osteocondrodisplasias , Argentina , Osso e Ossos , Humanos , América Latina/epidemiologia , Prevalência
15.
Cir Cir ; 88(Suppl 1): 74-78, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32963399

RESUMO

INTRODUCCIÓN: Las hernias femorales son raras en la infancia. El defecto está abajo del ligamento inguinal. La frecuencia de un diagnóstico erróneo es de hasta el 75%. Pueden ser resueltas mediante cirugía abierta o laparoscópica. OBJETIVO: Comunicar el caso de un niño con hernia femoral resuelto mediante laparoscopía. CASO CLÍNICO: Varón de 5 años, con antecedente de criptorquidia bilateral resuelta a los 2 años de edad. Padecimiento actual con 1 mes de evolución, con aumento de volumen en el tercio externo de la ingle. El ultrasonido reportó un defecto aponeurótico junto a los vasos femorales derechos. Abordaje laparoscópico, con hallazgos de defecto por abajo del ligamento inguinal. Sin recidiva a los 12 meses de seguimiento. DISCUSIÓN: Las hernias femorales son raras en los niños y su diagnóstico es difícil. La exploración laparoscópica permitió identificarla al encontrar un defecto por abajo del ligamento inguinal y junto a los vasos femorales independiente del anillo inguinal profundo y de la fascia transversal. INTRODUCTION: Femoral hernias are rare in children. The defect is below the inguinal ligament. The frequency of a misdiagnosis is up to 75%. They can be resolved by open or laparoscopic surgery. OBJECTIVE: To report the case of a child with femoral hernia, resolved by laparoscopy. CASE REPORT: Male, 5 years old, with a history of bilateral cryptorchidism resolved at 2 years of age. Current condition with a month of evolution with an increase in volume in the outer third of the groin. Ultrasound reported aponeurotic defect along with the right femoral vessels. Laparoscopic approach, with defect findings below the inguinal ligament. No recurrence at 12 months follow-up. DISCUSSION: Femoral hernias are rare in children, their diagnosis is difficult. Laparoscopic examination allowed its identification, finding a defect below the inguinal ligament and adjacent to the femoral vessels independent of the deep inguinal ring and the transversalis fascia.


Assuntos
Hérnia Femoral , Laparoscopia , Criança , Pré-Escolar , Hérnia Femoral/diagnóstico , Hérnia Femoral/cirurgia , Humanos , Masculino , Ultrassonografia
16.
Rev. chil. infectol ; Rev. chil. infectol;37(4): 463-469, ago. 2020. graf
Artigo em Espanhol | LILACS | ID: biblio-1138571

RESUMO

Resumen Bartonella henselae es el agente etiológico de la enfermedad por arañazo de gato (EAG), infección endémica en Chile. Típicamente se presenta como una linfadenopatía regional autolimitada y menos frecuentemente con compromiso sistémico y manifestaciones extraganglionares: en hígado, bazo, hueso, ojo, entre otros. Se presentan tres casos de infección atípica por Bartonella henselae en las que se evidenció compromiso ocular, manifestado como una neurorretinitis. Esta revisión destaca la importancia de la búsqueda activa de complicaciones oculares en pacientes con compromiso sistémico por Bartonella henselae, implicando un cambio en el tratamiento y pronóstico de la enfermedad.


Abstract Bartonella henselae is cat scratch disease's etiological agent, which is considered an endemic infection in Chile. It typically presents as a self-limited regional lymphadenopathy and less frequently with systemic involvement and extranodal or atypical manifestations: hepatosplenic, ocular or musculoskeletal involvement, among others. We present three cases of atypical cat scratch disease with ocular compromise, as neurorretinitis. This review highlights the importance of the active search for ocular complications in patients with disseminated cat scratch disease, leading to possible change in treatment and prognosis of the disease.


Assuntos
Humanos , Retinite/diagnóstico , Bartonella henselae , Doença da Arranhadura de Gato/complicações , Doença da Arranhadura de Gato/diagnóstico , Chile
17.
CES med ; 34(2): 103-113, mayo-ago. 2020. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1285736

RESUMO

Resumen Objetivo: Caracterizar los pacientes diagnosticados con tumores del sistema nervioso central en el Instituto Neurológico de Colombia durante el periodo 2010-2015. Métodos: Estudio descriptivo retrospectivo. Para los tumores primarios se usó la clasificación de la Organización Mundial de la Salud y para los metastásicos se usó la Clasificación Internacional de Enfermedades en Oncología. Resultados: Se identificaron 288 pacientes, 194 de ellos con tumores primarios y 94 tumores metastásicos. No se lograron clasificar los tumores primarios en el 23,7 % de los casos y para los metastásicos no se obtuvo la clasificación morfológica (histológica) en el 35,1 % de los casos. Los hombres presentaron con mayor frecuencia tumores de comportamiento maligno tipo glioblastoma NEO (no especificado de otra manera) (14,9 %) y en las mujeres predominaron los tumores de comportamiento benigno tipo meningioma (23,2 %). En mayores de 65 años, tanto el glioblastoma NEO como el meningioma fueron más frecuentes en mujeres con 17,4 % y 28,3 %, respectivamente. Entre los pacientes con tumores metastásicos, de acuerdo con la clasificación topográfica, los tumores primarios más frecuentes se localizaron en pulmón (39,4 %) y mama (17 %). No se identificó el sitio primario de metástasis en el 11,7 % de los casos. La histología más comúnmente identificada fue el adenocarcinoma (14,9 %), seguido del carcinoma (8,5 %). Conclusiones: Para una vigilancia efectiva de la enfermedad es necesario realizar un monitoreo epidemiológico y clínico de tumores primarios y metastásicos, mediante el uso de registros institucionales de cáncer, incluyendo datos topográficos, histológicos y moleculares, según disponibilidad.


Abstract Objective: The aim of this study was to characterize patients with a diagno- sis of a central nervous system (CNS) tumors at the Instituto Neurologico de Colombia during the period between 2010 to 2015. Methods: A retrospective descriptive study was conducted. The Classification of the World Health Organization was used for CNS primary tumors whereas the International Classification of Diseases for oncology (ICD-O) was used for CNS metastatic tumors. Results: 288 patients were identified, 194 of them with primary tumors of CNS and 94 with metastatic tu- mors from systemic cancer. It was not possible to classify primary tumors in 23.7% of the cases and regarding the metastatic tumors it was not possible to obtain the classification in 35.1 % of the cases. Men presented more frequently tumors of ma- lignant behavior such as glioblastoma NOS (not otherwise specified) (14.9 %) while in women benign behavior tumors such as meningioma predominated (23.2 %). For population older than 65 years old, both glioblastoma NOS and meningioma were more frequent in women with 17.4 % and 28.3 %, respectively. In patients with CNS metastatic tumors, according to the topographic classification, the most frequent primary tumors were lung (39.4 %), followed by breast (17 %). Its origin was not iden- tified in 11.7 % of the cases. The most identified histology was adenocarcinoma (14.9 %), followed by carcinoma (8.5 %). Conclusion: For disease surveillance, it is necessary to complete epidemiological and clinical monitoring of primary and metastatic tumors of the CNS by using institutional cancer registries including topographic, histological and molecular data according to availability.

18.
J Surg Case Rep ; 2020(5): rjaa031, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32440329

RESUMO

The lymphangioma is a benign neoplasm, mostly connate, it occurs more often in children. It is more frequently located in the head-neck region, as well as in the armpit, and less frequently in the abdomen. The diagnosis, as well as their appearance is variant, they can be asymptomatic depending on the size. The signs on the physical exam are usually nonspecific and can look like an acute abdomen. Imaging tests used are the ultrasound and tomography, which determine the therapeutic behavior. The differential diagnosis should be made with other intra-abdominal injuries, such as cavernous hemangioma, mesotheliomas, pancreatic and ovarian tumors and even peritoneal hydatid cyst. The definitive treatment is surgical in most cases, with complete excision of the mass. The definitive diagnosis is obtained with the histopathological study of the surgical piece.

19.
Rev Chilena Infectol ; 37(4): 463-469, 2020 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-33399668

RESUMO

Bartonella henselae is cat scratch disease's etiological agent, which is considered an endemic infection in Chile. It typically presents as a self-limited regional lymphadenopathy and less frequently with systemic involvement and extranodal or atypical manifestations: hepatosplenic, ocular or musculoskeletal involvement, among others. We present three cases of atypical cat scratch disease with ocular compromise, as neurorretinitis. This review highlights the importance of the active search for ocular complications in patients with disseminated cat scratch disease, leading to possible change in treatment and prognosis of the disease.


Assuntos
Bartonella henselae , Retinite , Doença da Arranhadura de Gato/complicações , Doença da Arranhadura de Gato/diagnóstico , Chile , Humanos , Retinite/diagnóstico
20.
J Pediatr Gastroenterol Nutr ; 70(1): 93-98, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31880680

RESUMO

Nonalcoholic fatty liver disease (NAFLD), defined as fat accumulation greater than 5% in hepatocytes, may progress to fibrosis or cirrhosis later in life. NAFLD prevalence in adolescents has increased significantly in direct relation with obesity prevalence. Fatty liver has become the most frequent indication for liver transplantation in adults. OBJECTIVE: The aim of the study was to identify anthropometric variables during the first 10 years of life associated to the risk of developing NAFLD in adolescence. METHODS: Longitudinal cohort study 'Growth and Obesity Chilean Cohort Study' (GOCS) consisting of 513 children born in 2002 to 2003, with yearly anthropometric data collected over a 10-year period. The presence of intrahepatic fat in the livers of subjects 14 to 16 years of age was determined using abdominal ultrasound. In addition, elastography was performed on all participants with ultrasound evidence of NAFLD. RESULTS: 9.7% of the participants presented findings compatible with NAFLD. After 2 years of age, obesity significantly and progressively increased the probability of NAFLD occurrence in adolescence. Obesity at 5 years of age was associated with the highest OR for NAFLD, reaching values of 8.91 (95% CI 3.03-16.11). Among participants with NAFLD, those with altered liver elasticity (≥7 kPa) had greater weight, BMI z-score, waist and hip circumference, and altered liver enzymes (P < 0.05). CONCLUSION: The risk of developing NAFLD in adolescence increases progressively with early obesity starting at age 2 years.


Assuntos
Hepatopatia Gordurosa não Alcoólica/epidemiologia , Hepatopatia Gordurosa não Alcoólica/etiologia , Obesidade Infantil/complicações , Adolescente , Antropometria , Criança , Pré-Escolar , Chile/epidemiologia , Técnicas de Imagem por Elasticidade , Feminino , Humanos , Fígado/diagnóstico por imagem , Fígado/patologia , Estudos Longitudinais , Masculino , Obesidade Infantil/fisiopatologia , Prevalência , Fatores de Risco , Ultrassonografia
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