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1.
Article in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1420053

ABSTRACT

Tanto la osteomielitis como la osteoartritis séptica en el período neonatal son patologías infrecuentes. La afectación ósea de la columna cervical es aún más rara, siendo excepcional en neonatos. Son patologías graves, con elevada morbimortalidad, donde el diagnóstico y tratamiento precoz agresivo son de suma importancia para el pronóstico vital y funcional. Presentamos el caso de un neonato que presentó una sepsis a S. Aureus multirresistente, asociada a una osteomielitis de la primera vértebra cervical y a una osteoartritis séptica de la cadera izquierda. Fue tratado precozmente de forma quirúrgica y con antibioticoterapia, presentando una buena evolución.


Both osteomyelitis and septic osteoarthritis in the neonatal period are infrequent pathologies. Bone involvement of the cervical spine is even rarer, being exceptional in neonates. These are serious pathologies, with high morbimortality, where early diagnosis and aggressive treatment are of utmost importance for the vital and functional prognosis. We present the case of a neonate who presented with sepsis due to multidrug-resistant S. Aureus, associated with osteomyelitis of the first cervical vertebra and septic osteoarthritis of the left hip. He was treated early surgically and with antibiotic therapy, presenting a good evolution


Tanto a osteomielite como a osteoartrose séptica no período neonatal são patologias raras. O envolvimento ósseo da coluna cervical é ainda mais raro, sendo excepcional nos recém-nascidos. Estas são patologias graves, com elevada morbimortalidade, onde o diagnóstico precoce e o tratamento agressivo são da maior importância para o prognóstico vital e funcional. Apresentamos o caso de um recém-nascido que apresentou sepse devido a S. Aureus multirresistente, associado a osteomielite da primeira vértebra cervical e osteoartrose séptica da anca esquerda. Foi tratado precocemente cirurgicamente e com terapia antibiótica, com uma boa evolução.


Subject(s)
Humans , Male , Infant, Newborn , Osteomyelitis/diagnosis , Cervical Atlas/pathology , Staphylococcal Infections/diagnosis , Hip/pathology , Osteomyelitis/drug therapy , Rifampin/therapeutic use , Staphylococcal Infections/drug therapy , Vancomycin/therapeutic use , Delayed Diagnosis , Neonatal Sepsis , Anti-Bacterial Agents/therapeutic use , Anticoagulants/therapeutic use
2.
Arch. argent. pediatr ; 120(6): e287-e290, dic. 2022. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1399819

ABSTRACT

El síndrome de Down (SD) es la anomalía cromosómica más frecuente entre los recién nacidos vivos. La atrofia muscular espinal (AME), por su parte, es una enfermedad neuromuscular caracterizada por la degeneración progresiva de las motoneuronas del asta anterior de la médula espinal que produce atrofia muscular, debilidad y parálisis. Presentamos el caso de una niña de 6 años con síndrome de Down derivada a nuestro centro para estudio por cuadro de debilidad muscular generalizada de evolución crónica con falta de adquisición de la marcha. Realizamos una revisión bibliográfica enfocándonos en el compromiso neurológico esperable en el síndrome de Down, la evolución de los hitos del desarrollo motor grueso estipulado para este grupo de pacientes y en los hallazgos que deben sugerir la presencia de una enfermedad neuromuscular.


A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome. There was information in her medical record and physical exam that strongly suggested the possibility of suffering a neuromuscular disorder. We asked for a molecular study that confirmed the spinal muscular atrophy diagnosis. We carried out a bibliographical revision focusing on the expected neurological impairment in Down's syndrome, the retardation of the gross motor skills development determined for this kind of patients and on the findings that must suggest a neuromuscular disorder.


Subject(s)
Humans , Female , Child , Muscular Atrophy, Spinal/diagnosis , Muscular Atrophy, Spinal/etiology , Down Syndrome/complications , Down Syndrome/diagnosis , Muscle Weakness , Delayed Diagnosis , Motor Skills
3.
Rev. epidemiol. controle infecç ; 12(4): 143-149, out.-dez. 2022. ilus
Article in English, Portuguese | LILACS | ID: biblio-1425968

ABSTRACT

Background and objectives: human visceral leishmaniasis (HVL) are a persistent public health problem, configuring a challenge to reduce its lethality. In order to evaluate the factors associated with lethality, this study emphasizes the time elapsed from suspicion to treatment of HVL, in the years 2015 to 2019, in the municipality of Araguaína-TO, an area of intense transmission. Methods: an epidemiological study of case series with longitudinal follow-up with information extracted from HVL notification and investigation forms. The relative risk (RR) was used as a measure of the strength of association for death, being calculated with confidence intervals (95% CI) estimated by the Wald test. Time intervals were represented in days by box plot as medians (Md). Results: of the 191 cases of HVL, 179 (93.72%) were cured and 12 (6.28%) had a fatal outcome. There was no association of risk of death by sex, education, race, being significant only by age in the age groups of young (RR= 16.09) and older adults (RR=7.08). The time from suspicion to treatment in children was shorter (0-35 days, Md=12) than that of older patients (4-44 days, Md=18) and in those who died (7-65 days, Md=20) highlighting greater inopportunity of healing in these last two groups. Conclusion: late diagnosis was a determining indicator for worse outcomes, five days made the difference between the group with an outcome for cure with the group of those who died, highlighting the need to shorten the wait for treatment.(AU)


Justificativa e objetivos: a leishmaniose visceral humana (LVH) constitui-se em persistente problema de saúde pública, configurando-se um desafio à redução de sua letalidade. Para avaliação dos fatores associados à letalidade, este estudo tem ênfase no tempo decorrido da suspeição ao tratamento de LVH, nos anos de 2015 a 2019, no município de Araguaína-TO, área de transmissão intensa. Métodos: estudo epidemiológico de série de casos com acompanhamento longitudinal, com informações extraídas das fichas de notificação e investigação de LVH. Utilizou-se o risco relativo (RR) como medida de força de associação para o óbito, sendo calculado com intervalos de confiança (IC 95%) estimados pelo Teste de Wald. Os intervalos de tempo foram representados em dias por box plot em medianas (Md). Resultados: dos 191 casos de LVH, 179 (93,72%) obtiveram cura e 12 (6,28%) apresentaram desfecho fatal. Não houve associação de risco de morte por sexo, escolaridade, raça ou cor, sendo significativa apenas por idade nas faixas etárias de adultos jovens (RR= 16,09) e idosos (RR=7,08). O tempo da suspeição ao tratamento em crianças foi mais curto (0-35 dias, Md= 12) que o de pacientes mais velhos (4-44 dias, Md=18) e naqueles que evoluíram ao óbito (7-65 dias, Md=20), realçando maior inoportunidade de cura nesses dois últimos grupos. Conclusão: o diagnóstico tardio foi um indicador determinante para piores desfechos, e cinco dias fizeram a diferença entre o grupo com desfecho para cura e o grupo dos que vieram a óbito, destacando a necessidade de encurtamento da espera para tratamento.(AU)


Justificación y objetivos: la leishmaniasis visceral humana (HVI) constituye un problema persistente de salud pública, configurando un desafío para reducir su letalidad. Con el objetivo de evaluar los factores asociados a la letalidad, este estudio enfatiza el tiempo transcurrido desde la sospecha hasta el tratamiento de la VLH, en los años 2015 a 2019, en el municipio de Araguaína-TO, zona de transmisión intensa. Métodos: estudio epidemiológico de serie de casos con seguimiento longitudinal con información extraída de los formularios de notificación e investigación LVH. Se utilizó el riesgo relativo (RR) como medida de la fuerza de asociación para muerte, siendo calculado con intervalos de confianza (IC 95%) estimados por la prueba de Wald. Los intervalos de tiempo se representaron en días mediante diagrama de caja como medianas (Md). Resultados: los 191 casos de LVH, 179 (93,72%) se curaron y 12 (6,28%) tuvieron un desenlace fatal. No hubo asociación de riesgo de muerte por sexo, educación, raza o color, siendo significativo solo por edad en los grupos de edad de adultos jóvenes (RR= 16,09) y ancianos (RR=7,08). El tiempo desde la sospecha hasta el tratamiento en los niños fue menor (0-35 días, Md=12) que en los pacientes mayores (4-44 días, Md=18) y en los que fallecieron (7-65 días, Md=20) destacando mayor inoportunidad de curación en estos dos últimos grupos. Conclusión: el diagnóstico tardío fue un indicador determinante de peor desenlace, los cinco días marcaron la diferencia entre el grupo con resultado de curación con el grupo de los que fallecieron, destacando la necesidad de reducir la espera para el tratamiento.(AU)


Subject(s)
Humans , Endemic Diseases , Delayed Diagnosis , Leishmaniasis, Visceral/mortality , Public Health
4.
Rev. méd. Maule ; 37(1): 14-23, jun. 2022. ilus
Article in Spanish | LILACS | ID: biblio-1395909

ABSTRACT

Introduction: Boerhaave syndrome is a spontaneous rupture of the esophageal wall caused by a sudden increase in intraesophageal pressure. It represents an incidence of approximately 15% of all esophageal perforations, which do not exceed 3.1 per 1 million inhabitants per year. Objectives: To communicate the clinical presentation and management of patients with this syndrome, as well as to reveal the different options available in our service for its treatment. Methods: Search in the statistical data of the regional Hospital of Talca for patients with a diagnosis of Boerhaave syndrome. Five patients were found. Information was obtained from their clinical records and is presented as a clinical case report with a descriptive analysis of their management. Results: Of the 5 clinical cases presented, a classic clinical presentation can be observed, most of the patients presented with vomiting that later evolved with thoracic and/or epigastric pain, associated with imaging studies suggesting esophageal perforation. Management was surgical in 100% of the cases, applying different techniques described in the literature. Discussion and Conclusion: Boerhaave syndrome is a medical-surgical emergency that requires timely management. In spite of the variety of management and the consequences of each one of them, all the patients had an evolution that allowed them to preserve their lives until nowadays. Keeping a high index of suspicion and choosing the best management will have an impact on morbidity and mortality.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Thorax/diagnostic imaging , Esophageal Diseases , Mediastinal Diseases/surgery , Radiography, Thoracic , Tomography, X-Ray Computed , Retrospective Studies , Endoscopy, Digestive System , Esophagectomy/methods , Delayed Diagnosis , Tertiary Care Centers/statistics & numerical data
5.
Rev. cuba. estomatol ; 59(1)mar. 2022.
Article in Spanish | LILACS-Express | LILACS, CUMED | ID: biblio-1408379

ABSTRACT

Introducción: El sarcoma de Kaposi es una neoplasia maligna multifocal de células endoteliales, que se presenta con lesiones características en la piel, boca y ganglios linfáticos. Objetivo: Describir un caso de sarcoma de Kaposi que, por sus características, entorpeció el diagnóstico de infección por VIH. Presentación del caso: Paciente masculino, de 30 años, diagnosticado recientemente con síndrome de inmunodeficiencia adquirida, sin tratamiento. Fue referido a la consulta de cirugía maxilofacial para biopsia de adenopatía cervical derecha. Durante el examen físico se observó edema generalizado en ambos miembros inferiores, con lesiones hiperpigmentadas de aspecto macular y papular de varias tonalidades. En la mucosa del paladar duro se apreció una lesión pigmentada violácea, que abarcaba la línea media palatina y se extendía hacia la hemiarcada izquierda. Se realizó la exégesis de la adenopatía con fines diagnósticos, con lo cual se confirmó sarcoma de Kaposi. Conclusiones: La falta de familiaridad con las características clínicas, así como la falta de una biopsia de las lesiones cutánea y un examen completo de la cavidad oral, ocasionaron que esta neoplasia pasara desapercibida en los exámenes médicos de rutina en el caso presentado, lo que condujo a un bajo índice de sospecha de la infección por VIH/sida y retrasó el tratamiento oportuno. Cuando la inmunosupresión está avanzada, el sarcoma de Kaposi relacionado al síndrome de inmunodeficiencia adquirida tiende a ser más agresivo(AU)


Introduction: Kaposi sarcoma is a multifocal malignant neoplasm of endothelial cells which presents with characteristic lesions on the skin, mouth and lymph glands. Objective: Describe a case of Kaposi sarcoma with characteristics that hindered HIV infection diagnosis. Case presentation: A case is presented of a male 30-year-old patient recently diagnosed with acquired immunodeficiency syndrome, and not following any treatment. The patient was referred to the maxillofacial surgery service for right cervical adenopathy biopsy. Physical examination revealed generalized edema in both lower limbs, with hyperpigmented lesions of macular and papular appearance and various shades of color. A purplish pigmented lesion was detected in the hard palate mucosa. The lesion covered the palatal midline and extended toward the left hemiarch. Exeresis of the adenopathy was performed for diagnostic purposes, confirming the diagnosis of Kaposi sarcoma. Conclusions: Lack of familiarity with the clinical characteristics of Kaposi sarcoma, and not performing a biopsy of the skin lesions and a complete examination of the oral cavity, made the neoplasm go unnoticed to routine medical tests, leading to low suspicion of HIV/AIDS infection and delaying timely treatment. In advanced immunosuppression, Kaposi sarcoma related to acquired immunodeficiency syndrome tends to be more aggressive(AU)


Subject(s)
Humans , Male , Adult , Sarcoma, Kaposi/diagnosis , Acquired Immunodeficiency Syndrome/diagnosis , HIV , Immunosuppression Therapy , Delayed Diagnosis
6.
Arq. neuropsiquiatr ; 80(1): 37-42, Jan. 2022. tab
Article in English | LILACS | ID: biblio-1360128

ABSTRACT

ABSTRACT Background: Frontotemporal dementia (FTD) is a neurodegenerative disease and is one of the most common causes of dementia in people under 65. There is often a significant diagnostic delay, as FTD can be confused with other psychiatric conditions. A lack of knowledge regarding FTD by health professionals is one possible cause for this diagnostic confusion. Objectives: The aim of this study was to adapt and validate the Frontotemporal Dementia Knowledge Scale (FTDKS) in Spanish. Methods: A translation was done, following cross-cultural adaptation guidelines, which consisted of forward translation, blind back translation, and an analysis by a committee of experts. For the present study, 134 professionals from different health areas responded the Spanish version of the FTDKS. The statistical analysis was performed using R version 4.0.0 "Arbor day" and the Psych, sjPlot packages. Results: The Spanish version of the FTDKS had good reliability and internal consistency (Cronbach alpha 0.74.). The sample's mean score was 19.78 (range = 4-32, SD 6.3) out of a maximum of 36 points. Conclusions: The results obtained show that the Spanish version has good psychometric properties. The FTDKS is applicable in our environment and can be a useful tool to evaluate the knowledge of health professionals regarding frontotemporal dementia.


RESUMEN Antecedentes: La demencia frontotemporal (DFT) es una enfermedad neurodegenerativa y es una de las causas más comunes de demencia en personas menores de 65 años. A menudo existe un retraso significativo en el diagnóstico, ya que la FTD puede confundirse con otras afecciones psiquiátricas. La falta de conocimientos sobre la DFT por parte de los profesionales de salud es una posible causa de esta confusión diagnóstica. Objetivos: El presente estudio describe nuestros esfuerzos para adaptar y validar la Escala de Conocimiento de la Demencia Frontotemporal (FTDKS) en español. Métodos: Se realizó una traducción, siguiendo las pautas de adaptación transcultural, que consistió en una traducción directa, una traducción inversa ciega y un análisis por parte de un comité de expertos. Para el presente estudio, 134 profesionales de diferentes áreas de la salud respondieron la versión en español del FTDKS. El análisis estadístico se realizó utilizando la versión 4.0.0 de R "Arbor day" y los paquetes Psych, sjPlot. Resultados: La versión en español del FTDKS tiene una buena fiabilidad y consistencia interna (alfa de Cronbach 0,74.). La puntuación media de la muestra fue de 19,78 (rango = 4-32, SD 6,3) sobre un máximo de 36 puntos. Conclusiones: Los resultados obtenidos muestran que la versión española tiene buenas propiedades psicométricas. El FTDKS es aplicable en nuestro medio y puede ser una herramienta útil para evaluar los conocimientos de los profesionales sanitarios sobre la demencia frontotemporal.


Subject(s)
Humans , Neurodegenerative Diseases , Frontotemporal Dementia/diagnosis , Psychometrics , Translations , Surveys and Questionnaires , Reproducibility of Results , Delayed Diagnosis
7.
Hematol., Transfus. Cell Ther. (Impr.) ; 44(1): 40-48, Jan.-Mar. 2022. tab, graf
Article in English | LILACS | ID: biblio-1364901

ABSTRACT

Abstract Introduction Knowing the information regarding the panorama of lymphoma diagnosis in patients treated in the Brazilian Public Unified Health System from the last 10 years is a challenge for Strategic Health Planning. Objective To characterize the Brazilian population with lymphoma treated in the Brazilian Public Unified Health System between 2008 and 2017 regarding staging, sex, residence site and mortality. Material and methods A descriptive, retrospective, and longitudinal trial with secondary data from DataSUS (SIA/SUS and SIM/SUS) obtained from patients with ICD-10 C81-85. Results There were 70,850 lymphoma cases between 2008 and 2017, of which 55% were male, the median age was 51 years, and 27% had Hodgkin Lymphoma. Most patients (56%) were treated outside the residence city. São Paulo State accounted for 25% of patients. Treatment initiation took more than 60 days in 27% of cases. A total of 45,601 deaths were due to lymphoma (12% Hodgkin Lymphoma and 88% Non-Hodgkin Lymphoma), with a median age 63 years, and were mainly males (55%). Staging data were inadequate in 23% of patients, and analysis was performed only on the valid records. Advanced disease was diagnosed in 58% of patients (60% male; 57% female) and was more common in Non-Hodgkin Lymphoma (62%) versus Hodgkin Lymphoma (49%). Discussion Late diagnosis interferes with mortality rates. Health promotion and cancer prevention campaigns, especially targeting the male public, and training for early diagnosis and early treatment are needed. Conclusion Effective measures for early diagnosis and treatment are urgently needed for lymphoma control.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Hodgkin Disease/diagnosis , Lymphoma/diagnosis , Mortality , Delayed Diagnosis , Neoplasm Staging
8.
Femina ; 50(4): 250-253, 2022. ilus
Article in Portuguese | LILACS | ID: biblio-1380701

ABSTRACT

A gestação heterotópica é uma entidade rara, principalmente se resultante de concepção natural. O diagnóstico é ultrassonográfico, porém a gestação intrauterina concomitante contribui para a dificuldade propedêutica. Neste relato de caso, a detecção foi tardia, a ultrassonografia não identificou a gestação heterotópica e apenas durante a avaliação intraoperatória, por meio de uma cirurgia de emergência devido a choque hemorrágico, houve o reconhecimento. A suspeita de uma gestação heterotópica deve ser sempre aventada quando sinais clínicos típicos (sangramento, dor abdominal) estão presentes, mesmo na ausência de fatores de risco ou imagens anômalas na ecografia. Assim, uma intervenção precoce menos invasiva pode ser realizada, reduzindo a morbimortalidade materna e do feto intrauterino. Este relato de caso destaca uma situação incomum dentro dessa patologia rara: diagnóstico tardio, apenas no segundo trimestre de gestação, sem evidência prévia ultrassonográfica, certificada apenas durante o intraoperatório. O manejo cirúrgico preciso permitiu a manutenção da gravidez intrauterina.(AU)


Heterotopic pregnancy is a rare entity, especially if it is resulted from natural conception. The diagnosis is ultrasonographic, but the concomitant intrauterine pregnancy contributes to the propaedeutic difficulty. In this case report, the detection was late, the ultrasonography did not identify heterotopic pregnancy and, only during intraoperative evaluation through emergency surgery, exploratory laparotomy, there was recognition. The suspicion of a heterotopic pregnancy should always be raised when typical clinical signs (bleeding, abdominal pain) are present, even in absentia of risk factors or anomalous images on ultrasound. Thus, a less invasive early intervention can be performed, reducing maternal and intrauterine fetus morbimortality. This case report highlights an unusual situation within this rare pathology: late diagnosis, only in the second trimester of pregnancy, without previous ultrasound evidence, certified only during the intraoperative period. Precise surgical management allowed the maintenance of intrauterine pregnancy.(AU)


Subject(s)
Humans , Female , Pregnancy , Pregnancy, Tubal , Pregnancy, High-Risk , Pregnancy, Heterotopic , Pregnancy Maintenance , Pregnancy Trimester, Second , Shock, Hemorrhagic/surgery , Risk Factors , Adnexal Diseases , Delayed Diagnosis
9.
Article in Spanish | LILACS, BINACIS | ID: biblio-1358108

ABSTRACT

La trombosis arterial luego de una artroplastia total de rodilla es una complicación poco frecuente; sin embargo, puede tener consecuencias devastadoras. Describimos un caso de una oclusión arterial después de una artroplastia total de rodilla en una mujer de 85 años. Inicialmente, la presentación clínica nos hizo pensar en una manifestación de la enfermedad de Raynaud (la paciente tenía antecedente de síndrome de CREST). Entre los diagnósticos diferenciales también se planteó un síndrome de dolor regional complejo, que retrasó el diagnóstico durante dos semanas. Finalmente, el diagnóstico y el tratamiento se realizaron mediante angiografía. La recuperación funcional fue completa. La baja frecuencia de esta lesión puede determinar que el diagnóstico sea un desafío para el cirujano. En este caso, la oclusión parcial de las arterias evitó complicaciones más graves. Nivel de Evidencia: IV


Arterial thrombosis after total knee replacement (TKR) is a rare complication; however, it can lead to disastrous consequences. We describe a case of an arterial occlusion after TKR in an 85-year-old female patient. Initially, the clinical presentation made us con-sider Raynaud (she had a history of CREST) and complex regional pain syndrome, which delayed the diagnosis for 2 weeks. Diagnosis and treatment were accomplished with angiography and the patient achieved a full recovery. The low frequency of this injury may make diagnosis a challenge for the surgeon. In this case, partial occlusion of the arteries avoided more serious complications. Level of evidence: IV


Subject(s)
Aged, 80 and over , Reflex Sympathetic Dystrophy , Arthroplasty, Replacement, Knee , Venous Thrombosis , Delayed Diagnosis
10.
Afr. j. reprod. health ; 26(7): 1-7, 2022. tables, figures
Article in English | AIM | ID: biblio-1381700

ABSTRACT

The high maternal mortality rate caused by late detection of risk factors for pregnant women is a major health problem in Banjarnegara District. One of the efforts made to overcome this problem is the implementation of assistance for one pregnant woman by one cadre (OPOC). The application of OPOC consists of four mentoring activities, namely reminders about antenatal care schedule, detecting risk factors, monitoring fetal movements, and carrying out delivery planning and handling complications.Therefore, this study aims to describe the implementation of OPOC as well as to evaluate cadres' performance in Banjarnegara District. A quantitative cross-sectional design was used, where a total of 200 cadres were selected as respondents using a representative purposive sampling method. The results showed that reminding mothers about their antenatal care schedule,detecting risk factors, monitoring of fetal health through movements, and making commitments for birth planning and complications prevention were carried out by 199 (99.49%), 129 (64.84%), 138 (69.05%), and 159 (79.42%) respondents, respectively. More than 92% of them know their duties and responsibilities as companions for pregnant women, but only 28% have knowledge about the benefits of assisting. Furthermore, 93% often carry out OPOC assistance. The knowledge of cadres about OPOC assistance was good, but some of them are not knowledgeable about its benefits. These findings show that they need guidance, training, and motivation from public health centers. (Afr J Reprod Health 2022; 26[7]: 83-89).


Subject(s)
Humans , Female , Pregnancy , Pregnant Women , Medical Assistance , Maternal Mortality , Risk Factors , Delayed Diagnosis , International Classification of Primary Care
11.
Ethiopian Journal of Health Sciences ; 32(5): 929-936, 5 September 2022. Tables
Article in English | AIM | ID: biblio-1398383

ABSTRACT

Glaucoma is the predominant cause of irreversible blindness, particularly the late presentation. The purpose of this study is to identify the risk factors associated with late presentation in Jimma University Medical Center METHODS: A case-control study was done among patients newly diagnosed to have open angle glaucoma (of any type) at Jimma University Medical Center from July 2014 ­ January 2019. Cases were patients/eyes diagnosed to have any type of open angle glaucoma with advanced glaucomatous disc features, whereas controls were patients diagnosed with early and moderate stages of glaucoma. RESULTS: There were 205 (116 cases and 89 controls) participants. The mean age of the participants at the time of diagnosis was 58.3±13.4yrs. Family history of blindness, presenting IOP, type of glaucoma and age were independently associated with late presentation. Patients with family history of blindness had late advanced glaucoma five times higher than those with no family history of blindness. The presence of late glaucoma among patients with presenting intra ocular pressure < 30mmHg is lower than those having ≥30mmHg (Adjusted Odds Ratio= 0.136). Primary open-angle glaucoma patients were less likely to present with advanced glaucoma than pseudo exfoliative glaucoma patients (Adjusted Odds Ratio=0.39). The chance of presenting with late glaucoma was increased by 3.4% for every one-year increment of age. CONCLUSIONS: Presence of family history of blindness, high presenting intraocular pressure, pseudo exfoliative glaucoma and old age are risk factors for late presentation of glaucoma


Subject(s)
Glaucoma , Risk Factors , Delayed Diagnosis , Labor Presentation , Glaucoma, Open-Angle , Academic Medical Centers
12.
Texto & contexto enferm ; 31: e20200579, 2022. tab
Article in English | LILACS, BDENF | ID: biblio-1377409

ABSTRACT

ABSTRACT Objective: to identify the prevalence and factors associated with late diagnosis of the infection by the Human Immunodeficiency Virus (HIV), in a municipality of São Paulo. Method: an epidemiological, analytical and retrospective study that analyzed the HIV and AIDS cases notified by the health services in the period from 2015 to 2017 using data from the notifications of the Information System for Notifiable Diseases (SINAN Net) corresponding to the users recently diagnosed with HIV/AIDS infection in the municipality of Ribeirão Preto/SP, Brazil. Data collection was in May 2018. The chi-square test was performed, as well as binary logistic regression, where the dependent variable was the AIDS criterion at the moment of notifying infection by HIV. A p-value<0.05 was considered for the association between the variables studied in relation to late diagnosis. Results: of the 829 (100%) new HIV cases, 290 (35.0%) were diagnosed in the condition of AIDS. Most of the population was male and aged between 15 and 34 years old. Oral candidiasis and weight loss greater than 10% were the main symptoms associated with AIDS. It was observed that people with lower schooling levels and older were more prone to late diagnoses. Conclusion: it is necessary to devise strategies that favor timely diagnosis in the municipality under study, particularly among the individuals aged over 45 years old and with lower schooling levels.


RESUMEN Objetivo: identificar la prevalencia y los factores asociados al diagnóstico tardío de la infección ocasionada por el Virus de Inmunodeficiencia Humana (HIV) en un municipio del interior de Brasil. Método: estudio epidemiológico, analítico y retrospectivo que analizó los casos de VIH y SIDA notificados por los servicios de salud entre 2015 y 2017 por medio de los datos de las notificaciones del Sistema de Información de Problemas de Salud pasibles de Notificación (SINAN Net) referentes a los usuarios recién diagnosticados con la infección ocasionada por el VIH/SIDA en el municipio de Ribeirão Preto/SP, Brasil. La recolección de datos fue en mayo de 2018. Se realizaron tanto una prueba de chi-cuadrado como un análisis de regresión logística binaria, en la cual la variable dependiente fue el criterio de SIDA al momento de notificar la infección ocasionada por el HIV. Se consideró un valor de p<0,05 para la asociación entre las variables estudiadas en relación con el diagnóstico tardío. Resultados: entre los 829 (100%) casos nuevos de HIV, 290 (35,0%) fueron diagnosticados en la condición de SIDA. La mayoría de la población era del sexo masculino y pertenecía al grupo etario de 15 a 34 años. Candidiasis oral y pérdida de peso superior al 10% fueron los principales síntomas asociados al SIDA. Se observó que las personas con niveles de educación más bajos y de mayor edad fueron más propensas a ser diagnosticadas tardíamente. Conclusión: es necesario elaborar estrategias que favorezcan el diagnóstico oportuno en el municipio estudiado, particularmente entre las personas de más de 45 años de edad y con niveles de educación más bajos.


RESUMO Objetivo: identificar a prevalência e os fatores associados ao diagnóstico tardio da infecção pelo vírus da imunodeficiência humana (HIV), em um município do interior paulista. Método: estudo epidemiológico, analítico e retrospectivo que analisou os casos de HIV e AIDS notificados pelos serviços de saúde no período de 2015 a 2017 por meio dos dados das notificações do Sistema de Informação de Agravos de Notificação (Sinan Net) dos usuários recém-diagnosticados para a infecção pelo HIV/AIDS no município de Ribeirão Preto/SP, Brasil. A coleta de dados ocorreu em maio de 2018. Foi realizado o teste qui-quadrado e regressão logística binária, no qual a variável dependente foi o critério de AIDS no momento da notificação da infecção pelo HIV. Foi considerado o valor de p<0,05 para a associação entre as variáveis estudadas com relação ao diagnóstico tardio. Resultados: dentre os 829 (100%) casos novos de HIV, 290 (35,0%) foram diagnosticados na condição de AIDS. A maioria da população pertencia ao sexo masculino e na faixa etária dos 15 aos 34 anos. A candidose oral e a perda de peso acima de 10% foram os principais sintomas associados à AIDS. Observou-se que pessoas com menor escolaridade e com o aumento da idade eram mais propensas a serem diagnosticadas tardiamente. Conclusão: estratégias que favoreçam o diagnóstico oportuno no município estudado são necessárias, particularmente entre os indivíduos com idade acima de 45 anos e com menor escolaridade.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , HIV Infections , Retrospective Studies , Notification , Delayed Diagnosis , Epidemiology , Acquired Immunodeficiency Syndrome , AIDS-Related Opportunistic Infections , Health Information Systems
13.
Cambios rev. méd ; 20(2): 89-93, 30 Diciembre 2021. ilus, tabs.
Article in Spanish | LILACS | ID: biblio-1368391

ABSTRACT

La aspiración de cuerpos extraños es una de las principales causas de ingreso a urgencias y de morbi-mortalidad en Ecuador en pacientes pediátricos. El diagnóstico suele ser tardío, por falta de interés de los cuidadores, o por errores en la valoración. Es importante detectar el cuadro a tiempo, para evitar complicaciones. OBJETIVO. Demostrar la necesidad de un diagnóstico acertado ante la alta sospecha en un cuadro dudoso de aspiración de cuerpo extraño. SERIE DE CASOS. Evaluación de cuatro pacientes de ambos sexos, de entre 11 meses a 15 años de edad con antecedente de ingesta de cuerpo extraño, atendidos en la Unidad Técnica de Cirugía Pediátrica, del Hospital de Especialidades Carlos Andrade Marín, durante el periodo 2019-2020. Se realizó la extracción exitosa mediante broncoscopia rígida en tres de ellos. DISCUSIÓN. La mayoría de pacientes con aspiración de cuerpo extraño suelen ser menores de 5 años de edad, en contraste con éste estudio, donde sólo un paciente estuvo dentro de este rango, y el resto fueron escolares y adolescentes. El cuerpo extraño más común es de origen orgánico; el 50% de los casos observados fue de origen inorgánico. CONCLUSIÓN. El diagnóstico de aspiración de cuerpo extraño se condiciona a la obtención completa de datos sobre la Historia Clínica; requiere una valoración rápida y manejo adecuado por emergencias.


INTRODUCTION. Foreign body aspiration is one of the main causes of emergency room admissions and morbidity and mortality in pediatric patients in Ecuador. Diagnosis is usually late, due to lack of interest of caregivers, or due to errors in the assessment. It is important to detect the condition in time to avoid complications. OBJECTIVE. To demonstrate the need for an accurate diagnosis in the presence of high suspicion in a doubtful picture of foreign body aspiration. CASE SERIES. Evaluation of four patients of both sexes, between 11 months and 15 years of age with a history of foreign body ingestion, attended at the Pediatric Surgery Technical Unit of the Carlos Andrade Marin Specialties Hospital, during 2019-2020 period. Successful extraction by rigid bronchoscopy was performed in three of them. DISCUSSION. Most patients with foreign body aspiration are usually under 5 years of age, in contrast to this study, where only one patient was within this range, and the rest were schoolchildren and adolescents. The most common foreign body is of organic origin; 50% of the cases observed were of inorganic origin. CONCLUSION. The diagnosis of foreign body aspiration is conditioned to the complete collection of data on the Clinical History; it requires a rapid assessment and appropriate emergency management.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Trachea , Airway Obstruction/diagnostic imaging , Delayed Diagnosis , Foreign Bodies/diagnostic imaging , Lung , Pneumonia/diagnostic imaging , Bronchoscopy , Tomography, X-Ray Computed , Cough/diagnostic imaging , Airway Obstruction/surgery
14.
Rev. chil. infectol ; 38(5): 707-712, oct. 2021. ilus, tab
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1388287

ABSTRACT

Resumen La lepra o enfermedad de Hansen es una de las clásicas enfermedades olvidadas que aún persiste en Perú. La infección es ocasionada por Mycobacterium leprae. La enfermedad varía en un amplio rango de manifestaciones desde la lepra tuberculoide (paucibacilar) hasta la lepromatosa (multibacilar). Se presenta el caso de un varón de 55 años, agricultor y extractor de madera, procedente de la Amazonia peruana, con lesiones cutáneas antiguas infiltrantes en la cara, cuello, tórax, abdomen y extremidades. La baciloscopia y estudio histológico de una biopsia de piel confirmaron la presencia de bacilos ácido-alcohol resistentes. Se concluyó, en forma tardía, que fue un caso de lepra lepromatosa nodular. Recibió terapia con rifampicina, dapsona y clofamizina por dos años con una lenta mejoría; no obstante, cursó con un eritema nodoso leproso (reacción tipo 2) con buena respuesta a corticoesteroides y talidomida.


Abstract Leprosy or Hansen's disease is one of the classic neglected diseases that still persists in Peru. The infection is caused by Mycobacterium leprae. The disease varies in a wide range of manifestations from tuberculoid (paucibacillary) to lepromatous (multibacillary) leprosy. We present the case of a 55-year-old man, farmer and wood extractor, from the Peruvian Amazon with old infiltrating cutaneous lesions on the face, neck, thorax, abdomen and extremities. The smear and biopsy examinations confirm the presence of acid-alcohol-resistant bacilli compatible with leprosy. It is concluded, with a long delay, it was a case of nodular lepromatous leprosy. He received therapy with rifampicin, dapsone and clofamizine for two years with slow progressive improvement; however, he presented an erythema nodosum leprosum (type 2 reaction) with response to corticosteroids and thalidomide.


Subject(s)
Humans , Male , Middle Aged , Leprosy, Lepromatous/diagnosis , Erythema Nodosum/diagnosis , Erythema Nodosum/pathology , Peru , Leprosy, Lepromatous/drug therapy , Erythema Nodosum/drug therapy , Delayed Diagnosis , Leprosy
15.
Rev. chil. infectol ; 38(4): 532-539, ago. 2021. tab
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1388268

ABSTRACT

INTRODUCCIÓN: La lepra, una infección crónica, es una de las mayores causas de discapacidad prevenible. El inicio temprano del tratamiento previene el desarrollo de discapacidad. OBJETIVO: Identificar los factores pronóstico de discapacidad en individuos con lepra multibacilar y paucibacilar que culminaron el tratamiento farmacológico entre el 2011 y 2017 en Paraguay. PACIENTES Y MÉTODOS: Se realizó un estudio de casos y controles, con 34 pacientes, 9 casos, 25 controles. Los casos fueron pacientes con discapacidad Grado 1 que presentaban falta de sensibilidad en miembros inferiores o superiores, y los de Grado 2, lagoftalmos, rigidez, ulceraciones, garra pasiva, garra activa. Los controles no presentaron discapacidad. RESULTADOS: La edad media de los pacientes fue 53 ± 15,2 años, el 55,9% fue de sexo masculino y 58,9% tenía educación primaria o no tenía educación formal. El 58,8% de los pacientes presentó lepra multibacilar; y el 64,7% fue diagnosticado tras consultar con dos o más médicos. Retraso en el diagnóstico mayor a un año fue significativamente (p = 0,047) mayor en los casos que en los controles (77,8 vs 12%; OR: 7,44; IC95%: 1,02-67,86). CONCLUSIÓN: El retraso en el diagnóstico mayor a un año es un factor pronóstico de discapacidad.


BACKGROUND: Leprosy, a chronic infectious disease, is one of the major causes of preventable disability. Early treatment prevents neurological damage and disability. AIM: To identify prognostic factors of disability in individuals with multibacillary and paucibacillary leprosy who completed a drug treatment between 2011 and 2017 in Paraguay. METHODS: A case-control study was carried out on 34 patients, of them 9 were cases and 25 controls. Cases were those patients with Grade 1, presented lack of sensation in lower or upper limbs, and those of Grade 2 lagophthalmos, rigidity, visible deformity ulcerations, passive claw, active claw. Controls had no disabilities. RESULTS: Mean age of the patients was 53 ± 15.2 years, 55.9% were male, and 58.9% had primary education or no formal education. Multibacillary leprosy was found in 58.8% of patients; and 64.7% were diagnosed after consulting with two or more physicians. Diagnosis delay of more than one year was significantly (p = 0.047) greater in the cases than in the controls (77.8% vs 12%; OR: 7.44; 95% CI: 1.02-67.86). CONCLUSION: In this study, a diagnosis delay of more than one year is a prognostic factor for disability.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Disability Evaluation , Leprosy/diagnosis , Paraguay/epidemiology , Prognosis , Case-Control Studies , Delayed Diagnosis , Leprosy/drug therapy
16.
Arch. argent. pediatr ; 119(4): 224-229, agosto 2021. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1280889

ABSTRACT

Introducción. La apendicitis constituye la principal causa de abdomen agudo quirúrgico en pediatría. Durante la pandemia por COVID-19, se replantearon las estrategias de manejo ydisminuyeron las consultas en las guardias, lo que podría asociarse a diagnósticos tardíos y complicaciones. El objetivo de este estudio fue analizar el impacto de la pandemia en los niños con apendicitis aguda. Métodos. Estudio analítico retrospectivocomparativo de pacientes pediátricos conapendicitis aguda durante los cinco meses del confinamiento por COVID-19 versus los meses equivalentes del año previo. Se analizaron la incidencia, la clínica, el estadio, el abordajequirúrgico y las complicaciones. Resultados. Los casos totales de apendicitisse redujeron un 25 % (n = 67 versus n = 50 en 2020). El tiempo medio hasta la consulta fue de 24 horas en ambos períodos (p = 0,989). La incidencia de peritonitis fue del 44 % (n = 22) versus el 37 % (n = 22) (p = 0,22) en 2019. No se evidenció diferencia en los estadios deenfermedad de acuerdo con lo informado en los partes quirúrgicos. En 2019, todas las cirugías se realizaron por vía laparoscópica; en 2020, solo un42 % (n = 21). La incidencia de complicaciones fue del 6 %, contra 7,5 % en el período previo (p = 0,75). Un paciente fue COVID-19 positivo. Conclusión. A pesar de la reducción en el númerode casos de apendicitis, no se evidenció una demora en la consulta en nuestra población. El mayor impacto se asoció a la readecuación del manejo, evitando el abordaje laparoscópico para reducir la diseminación del virus.


Introduction. Appendicitis is the leading cause of surgical acute abdomen in pediatrics. During the COVID-19 pandemic, management strategies were reassessed and the number of visits to the emergency department dropped down, which may be associated with delayed diagnoses and complications. The objective of this study was to analyze the impact of the pandemic on children with acute appendicitis. Methods. Analytical, retrospective, comparative study of pediatric patients with acute appendicitis in the 5 months of COVID-19 lockdown versus the same period in the previous year. Incidence, clinical data, stage, surgical approach, and complications were analyzed. Results. The total number of appendicitis cases went down by 25 % (n = 67 versus n = 50 in 2020). The mean time to consultation was 24 hours in both periods (p = 0.989). The incidence of peritonitis was 44 % (n = 22) versus 37 % (n = 22) (p = 0.22) in 2019. No differences were  observed in terms of appendicitis stage based on surgery reports. In 2019, all surgeries were laparoscopic; while in 2020, only 42 % (n = 21). The incidence of complications was 6 % versus 7.5 % in the previous period (p = 0.75). One patient was COVID-19 positive. Conclusion. Although in our population the number of appendicitis cases dropped down, consultation was not delayed. The greater impact was associated with the reformulation of management strategies, in which the laparoscopic approach is avoided to reduce virus transmission.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Appendectomy/trends , Appendicitis/surgery , Appendicitis/diagnosis , Appendicitis/epidemiology , Practice Patterns, Physicians'/trends , Delayed Diagnosis/trends , COVID-19/prevention & control , Health Services Accessibility/trends , Appendectomy/methods , Argentina/epidemiology , Acute Disease , Incidence , Retrospective Studies , Laparoscopy/trends , Pandemics/prevention & control , Tertiary Care Centers , COVID-19/diagnosis , COVID-19/epidemiology , Hospitals, General
17.
Rev. habanera cienc. méd ; 20(4): e4112, 2021. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1289624

ABSTRACT

Introducción: Los pacientes fallecidos por COVID-19 al inicio de la pandemia evidencian características clínico-epidemiológicas particulares y su identificación, lo mismo que los aspectos asociados a su diagnóstico son fundamentales para la implementación de estrategias en salud pública que permitan la protección sanitaria de los grupos más vulnerables. Objetivo: Determinar las características clínico epidemiológicas de los pacientes fallecidos por COVID-19 y su asociación con el diagnóstico tardío en las primeras etapas de la pandemia en el departamento de Bolívar-Colombia. Materiales y Métodos: Estudio descriptivo de corte transversal con una muestra de 51 pacientes fallecidos por COVID-19; se calculó la frecuencia relativa de los factores de riesgo clínico epidemiológicos de estos pacientes y se realizó un análisis bivariado para evidenciar la asociación con la posibilidad de ser diagnosticado después de la muerte, usando la razón de disparidad (OR) con su intervalo de confianza Resultados: El 47,2 por ciento de los diagnósticos se hicieron después de la muerte; el promedio entre el inicio de los síntomas y la muerte fue aproximadamente 13 días, en los que se evidencia como comorbilidades importantes las enfermedades cardíacas (58,5 por ciento) y la hipertensión (35,8 por ciento). La asociación con el diagnóstico después de la muerte se relaciona con los casos notificados en abril y mayo (p=0,03), ser mayor de 80 años (p=0,03) y tener malnutrición (p=0,04). Conclusión: En el contexto del departamento de Bolívar se observan fallas en el diagnóstico oportuno de algunos grupos poblacionales vulnerables y a los pacientes con enfermedades cardíacas se debe prestar atención para evitar la alta mortalidad(AU)


Introduction: Patients who died from COVID-19 at the beginning of the pandemic show particular clinical-epidemiological characteristics and their identification as well as the aspects associated with the diagnosis are fundamental for the implementation of public health strategies that allow the sanitary protection of the most vulnerable groups. Objective: To determine the clinical-epidemiological characteristics of patients who died from COVID-19 and its association with late diagnosis in the early stages of the pandemic in the department of Bolívar-Colombia. Material and Methods: Descriptive cross-sectional study with a sample of 51 patients who died from COVID-19; the relative frequency of the clinical-epidemiological risk factors of these patients was calculated and a bivariate analysis was performed to show the association with the possibility of being diagnosed after death, using the disparity ratio (OR) with its confidence interval. Results: The 47,2 percent of the diagnoses were made after death; the average between the onset of symptoms and death was approximately 13 days, in which heart disease (58,5 percent) and hypertension (35,8 percent) were evidenced as important comorbidities. The association with diagnosis after death is related to the cases reported in April and May (p = 0.03), being older than 80 years (p = 0.03) and having malnutrition (p = 0.04). Conclusion: In the context of the department of Bolívar, failures are observed in the timely diagnosis of some vulnerable population groups, thus special attention should be paid to patients with heart disease to avoid high mortality(AU)


Subject(s)
Humans , Male , Female , Risk Groups , Vulnerable Populations/ethnology , Delayed Diagnosis/prevention & control , COVID-19/epidemiology , Heart Diseases/complications , Epidemiologic Factors , Epidemiology, Descriptive , Cross-Sectional Studies , Colombia , COVID-19/mortality
18.
Rev. habanera cienc. méd ; 20(3): e4124, tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1280442

ABSTRACT

Introducción: En los últimos años las mujeres constituyen uno de los grupos más vulnerables y afectados por el VIH. Objetivo: Determinar características clínico-epidemiológicas de mujeres con VIH, residentes en el municipio Boyeros. Material y métodos: investigación descriptiva, retrospectiva de pacientes femeninas con VIH, diagnosticadas y residentes en el municipio Boyeros, desde 1986 hasta el 31 de diciembre del 2016. Se incluyeron solo las pacientes mayores de 14 años, vivas, diagnosticadas y residentes en el municipio. La muestra estuvo constituida por 99 casos. La fuente de información se obtuvo de las historias clínicas de la Consulta Municipal especializada para la atención a pacientes con VIH/sida del municipio Boyeros. Resultados: Las tasas de incidencia muestran tendencia ascendente. El 49,5 por ciento se diagnostican con edades entre 15 y 29 años. Predominan las mujeres blancas en 40 por ciento, con nivel de escolaridad secundaria básica (43 por ciento). Un 19 por ciento se hizo el diagnostico como gestante y más de 50 por ciento no declararon vínculo laboral estable. El diagnóstico tardío se presentó en 43 por ciento y a edades mayores. El último conteo de T-CD4 fue mayor de 350 células/mm3 en más de 50 por ciento. El 92,9 por ciento de los casos tienen indicado TARV. Conclusiones: La población femenina con VIH del municipio Boyeros es predominantemente joven, con nivel de escolaridad básica y sin vínculo laboral. Se mantienen casos de diagnóstico tardío y las cifras de T-CD4 muestran valores adecuados en la mayoría de los casos(AU)


Introduction: Women are one of the most vulnerable groups affected by HIV during the last years. Objective: To determine the clinical and epidemiological characteristics of women with HIV in Boyeros municipality. Material and Methods: A descriptive retrospective research was conducted in female HIV patients in Boyeros municipality from 1986 to December 31, 2016. Only alive women older than 14 years living in the aforementioned municipality who were previously diagnosed with HIV were included in the study. The sample was composed of 99 cases. The information was obtained from the clinical records of the Municipal Consultation where specialized care is given to patients with HIV/AIDS. Results: The incidence rates of HIV infection in women showed a rising trend. Also, 49,5 percent of women infected with HIV were between 15 and 29 years of age. There was a prevalence of whites (40 percent) as well as women with secondary levels of education (43 percent). The diagnosis was also made in pregnant women, representing the 19 percent. More than 50 percent of them declared not to have steady jobs. Late diagnosis was identified in 43 percent of women in older ages. The latest T-CD4 count was higher than 350 cells/mm3 in more than 50 percent of them. ART was indicated in 92,9 percent of the cases. Conclusions: The female population infected with HIV in Boyeros municipality is mainly young; a lot of them have basic educational levels and do not have an employment contract. Late diagnosis of HIV infection continues to be identified. T-CD4 cell counts show adequate values in most of the cases(AU)


Subject(s)
Humans , Female , Adolescent , Adult , Middle Aged , Risk Groups , CD4 Antigens , Acquired Immunodeficiency Syndrome/epidemiology , White People , Epidemiology, Descriptive , Retrospective Studies , Delayed Diagnosis
19.
Arq. Asma, Alerg. Imunol ; 5(2): 208-210, abr.jun.2021. ilus
Article in Portuguese | LILACS | ID: biblio-1398934

ABSTRACT

O angioedema hereditário por défice de C1-inibidor é uma doença rara autossômica dominante com uma prevalência estimada em 1:50.000. Habitualmente a história familiar aponta para este diagnóstico. No entanto, a apresentação atípica com história familiar negativa pode atrasar o diagnóstico de meses a anos. Os autores apresentam o caso de uma criança de 6 anos sem antecedentes pessoais ou familiares relevantes que recorreu ao Serviço de Urgência pediátrico por edema, calor e rubor do cotovelo, joelho e maléolos direitos com 12h de evolução, sem fatores associados. Ao exame objetivo: edema do cotovelo, joelho e maléolos direitos, exantema não pruriginoso maleolar homolateral com discreto desconforto à palpação. Sem elevação dos parâmetros infeciosos ou inflamatórios. Foi iniciada corticoterapia sistêmica, com melhoria lenta do quadro. Teve alta, referenciada à consulta de Imunoalergologia. Na anamnese foram apurados quatro episódios de edema periarticular nos doze meses prévios. A avaliação analítica da criança revelou C1 inibidor 62 mg/dL, C1 inibidor funcional 29%, confirmada em duas determinações, e a dos pais e dos dois irmãos foi normal. No estudo genético não foram identificadas mutações nos genes SERPING. O angioedema hereditário por défice de função do C1-inibidor - tipo II - representa 15 a 20% dos casos. Embora a história familiar seja o maior sinal de alerta para o diagnóstico desta patologia, em 20-25% dos casos ocorre mutação espontânea. Nestes casos um elevado grau de suspeição é necessário e um atraso no diagnóstico pode levar a consequências graves. As opções terapêuticas em crianças menores de 12 anos são ainda limitadas.


Hereditary angioedema with C1-inhibitor deficiency is a rare autosomal dominant disease with an estimated prevalence of 1:50 000. Usually, family history points to this diagnosis. However, atypical presentation with negative family history may delay diagnosis in months to years. The authors describe the case of a 6-year-old girl with apparently no significant family or past medical history, presenting to the emergency department for edema, warmth, and redness of the right elbow, knee, and ankle, which started 12 hours earlier, without associated factors. On physical examination, edema of the right elbow, knee, and ankle, and nonpruritic rash on the right ankle with a slight discomfort on palpation were found. Laboratory infection or inflammation markers were not elevated. Systemic corticosteroids were started, with slow improvement. She was discharged and referred to an immunoallergology outpatient clinic. On medical history taking, four episodes of periarticular edema in the past 12 months were identified. Laboratory evaluation revealed C1-inhibitor at 62 mg/dL and functional C1-inhibitor at 29%, confirmed in two samples; the parents and two siblings were normal. On genetic testing, there were no mutations on the SERPING genes. Hereditary angioedema with C1-inhibitor deficiency ­ ie, type II ­ accounts for 15 to 20% of cases. Even though family history is the major indicator for diagnosis of this condition, a de novo mutation occurs in 20 to 25% of cases. In these cases, a high suspicion is necessary, and a delayed diagnosis could have severe implications. Therapeutic options in children under the age of 12 are limited.


Subject(s)
Humans , Female , Child , Tranexamic Acid , Genetic Testing , Ibuprofen , Adrenal Cortex Hormones , Elbow , Angioedemas, Hereditary , Genes , Knee , Ankle , Mutation , Physical Examination , Therapeutics , Rare Diseases , Diagnosis , Edema , Allergy and Immunology , Delayed Diagnosis , Inflammation
20.
Distúrb. comun ; 33(2): 231-238, jun. 2021. ilus, tab
Article in Portuguese | LILACS | ID: biblio-1400833

ABSTRACT

Introdução: A fissura de palato submucosa é uma malformação craniofacial, que pode ocasionar alterações de fala, e a fonoterapia intensiva é uma possibilidade de tratamento. Objetivo: relatar o caso de uma paciente com fissura submucosa de palato sintomática não operada que participou de um programa de fonoterapia intensiva para reabilitação de fala, descrever os processos terapêuticos e comparar a produção da fala antes e depois da terapia. Metodologia: o programa de fonoterapia intensiva foi realizado com uma paciente do gênero feminino de 13 anos de idade, com fissura submucosa de palato sintomática, não operada; e constituiu de três sessões diárias de terapia fonoaudiológica durante um período de 4 semanas, resultando em um total de 60 sessões de terapia. Antes da primeira sessão, e após a última, foi realizada avaliação clínica da fala e instrumental da função velofaríngea. Resultados: sistematização do fechamento velofaríngeo, melhora na inteligibilidade de fala, correção das articulações compensatórias, da fraca pressão intraoral e hipernasalidade em fala dirigida. Conclusão: o programa de fonoterapia intensiva proporcionou resultados positivos em período curto na reabilitação da fala da paciente.


Introduction: Submucosal cleft palate is a craniofacial malformation that can cause speech disorders and intensive speech therapy is an alternative treatment. Objective: report the case of a patient with submucous cleft who participated in an intensive speech therapy program, describe the therapeutic processes and compare speech production before and after therapy. Methods: the intensive therapy program was conducted with a 13-year-old female patient with submucosal cleft and consisted of three daily speech therapy sessions over a period of 4 weeks, resulting in 60 therapy sessions. Before the first session and after the last session, clinical and instrumental assessments of velopharyngeal function were performed. Results: systematization of velopharyngeal closure, improvement of speech intelligibility, elimination of compensatory articulations, weak intraoral pressure and hypernasal resonance in monitored speech. Conclusion: The intensive speech therapy program provided positive short-term results in speech rehabilitation of a patient with submucosal cleft.


Introducción: el fissura palatina submucosa es una malformación craneofacial, por esta razón puede causar trastornos del habla y la terapia intensiva del habla es un tratamiento alternativo. Objetivo: relatar el caso de una paciente con fisura palatina submucosa que participó en un programa intensivo de terapia fonoaudiológica para la rehabilitación del habla, describir los procesos terapéuticos y comparar la producción del habla antes y después de la terapia. Metodos: el programa de cuidados intensivos se llevó a cabo con una paciente del género femenino de 13 años de edad con fisura palatina submoucosa y consistió en tres sesiones diarias de terapia fonoaudiológica durante un período de 4 semanas, lo que resultó en un total de 60 sesiones de terapia. Antes de la primera sesión y después de la última, se realizó una evaluación clínica e instrumental de la función velofaríngea. Resultados: sistematización del cierre velofaríngeo, mejor inteligibilidad del habla, eliminación de las articulaciones compensatorias, de la presión intraoral débil y de la resonancia hipernasal en el habla dirigida. Conclusión: el programa de cuidados intensivos proporcionó resultados positivos en un corto período de tiempo en la rehabilitación del habla de una paciente con fisura submucosa.


Subject(s)
Humans , Female , Adolescent , Speech Therapy/methods , Cleft Palate/therapy , Speech Disorders/etiology , Cleft Palate/complications , Delayed Diagnosis , Controlled Before-After Studies
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