ABSTRACT
The mucopolysaccharidosis (MPS) constitutes a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans. Several types of MPS are described, historically numbered from I to IX. Clinical observations strongly suggest the presence of chronic pain in patients with all types of MPS. There are few data in the literature on the evaluation and management of pain in these patients, a fact that can compromise the quality of life even more. Professionals with extensive experience in the care for patients with MPS held a meeting in April 2017 to discuss and propose recommendations for the evaluation and management of pain in patients with MPS in Latin America. This article summarizes the content of the discussions and presents the recommendations produced at the meeting. Patients with MPS present joint, bone, and muscle pain, as well as entrapment syndromes (spinal, optic nerve, carpal tunnel). The panel suggests the use of the following instruments for pain assessment: Face, Legs, Activity, Cry and Consolability Scale for children of up to four years of age and patients unable to communicate their pain; Child Health Assessment Questionnaire Scale; Facial Pain Scale and Numerical Pain Scale for patients of five to <18 years of age; Brief Pain Inventory and Short Form Health Survey 36 scales for patients aged 18 years or older. Based on the scores verified in these scales, the panel proposes pharmacological interventions for pain relief in this population of patients.
Subject(s)
Mucopolysaccharidoses/diagnosis , Mucopolysaccharidoses/therapy , Pain Management , Pain Measurement , Pain/diagnosis , Adolescent , Child , Child, Preschool , Humans , Latin America , Pain Management/methods , Pain Measurement/methods , Young AdultABSTRACT
La agenesia pulmonar es una alteración poco frecuente, con predominio en el sexo femenino y sin preferencia por la lateralidad. Reportamos el caso de un recién nacido masculino con diagnóstico prenatal de hernia diafragmática. Al nacer, se descartó esta patología y se hizo una impresión diagnóstica de malformación adenomatoide quística (malformación congénita de la vía aérea pulmonar) vs. agenesia pulmonar. El paciente falleció a los seis días de vida y la necropsia confirmó una agenesia pulmonar.
Pulmonary agenesis is an infrequent pathology which occurs predominantly among females with no lateral preference. We report on the case of a newborn male diagnosed with prenatal diaphragm hernia though at birth seemed more likely either to be a congenital cystic adenomatoid malformation (congenital pulmonary airway malformation) or pulmonary agenesis. The patient died six days after birth and necropsy confirmed pulmonary agenesis.
Subject(s)
Hernia, Diaphragmatic , Infant, NewbornABSTRACT
Objetivos. Este artículo describe una muestra de recién nacidos con malformaciones congénitas a quienes se les tomó muestra de mucosa oral mediante la técnica de hisopado bucal. Se hizo lo anterior con el fin de generar un banco de ADN, de manera que exista la posibilidad de acceder al material genético para investigaciones moleculares de malformaciones congénitas. Métodos. Siguiendo la metodología del Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC), se examinaron los recién nacidos de dos hospitales de Bogotá, el Hospital Universitario San Ignacio y la Fundación Clínica Emmanuel, durante el periodo comprendido entre el 1º de agosto de 2007 y el 31 de julio de 2008. Para la extracción del ADN, se tomaron muestras de mucosa oral mediante la técnica de hisopado bucal y el ADN se almacenó a -20°C en el Instituto de Genética Humana de la Pontificia Universidad Javeriana. Resultados. Se registraron 6.219 nacimientos, de los cuales, 213 niños nacieron con alguna malformación congénita; de éstos, a 125 se les tomó muestra de hisopado bucal. En la población general, la mayoría de nacimientos registrados fueron de sexo masculino (51,6%). Sin embargo, la muestra presentó una mayor tendencia hacia pacientes femeninos (53,6%Se registraron dos casos de mortinatos en la muestra (1,6%). La mortalidad de los pacientes con malformaciones se aumentó a 7 casos (5,6%) al momento del alta. No se encontró una diferencia importante en la edad materna al momento de la gestación, entre la población general y la muestra (promedio de 26,89 años y 27,06 años, respectivamente). La malformación que se observó con mayor frecuencia fueron las deformidades congénitas del pie (16,8%), seguida de la cardiopatía (6,4% del total de las malformaciones) y la polidactilia (5,6%)...
Objective: To describe a sample of newborns with congenital malformations that were part of a surveillance program. DNA samples were taken from this patient´s oral mucosa using buccal swabs with the purpose of creating a DNA bank for the future molecular investigation of congenital anomalies.Methods: Following the methodology of the Latin American Collaborative Study of CongenitalMalformations (ECLAMC), we evaluated all newborns from August 1, 2007 to July 31, 2008 that were born in two hospitals in Bogotá- Colombia: Hospital Universitario San Ignacio and Fundaci ón Clínica Emmanuel. For the extraction of DNA, samples were taken from the newborn´s oral mucosa using buccal swabs and they werestoraged at a -20°C temperature at the Human Genetic Institute of the Pontificia Universidad Javeriana.Results: From August 1, 2007 to July 31, 2008, 6219 births were registered; 213 of which had a congenital malformation. Samples of DNA were taken from 125 malformed newborns, using buccal swabs. 51% of the infants were males, and 48% were females, but in the sampled babies, females predominated (53,6%). Two cases of stillbirths were registered (1,6%). We found no difference when comparing the general population´s maternal age at the moment of birth with the sample´s maternal age at the moment of birth (average, 26, 89 and 27, 09 years, respectively).The most frequent anomalies observed were: Malformations of the feet (16,8%), cardiopathies (6.4%) and polydactyly (5,6%).Conclusions: Samples taken from oral mucosa using buccal swabs represent an easy and noninvasive method for the extraction of DNA and the creation of a DNA bank that will contribute for the future molecular research of congenital anomalies...
Subject(s)
Databases, Nucleic Acid , Genetics, Medical , Congenital AbnormalitiesABSTRACT
Los teratomas son tumores de origen embrionario asociados con mal pronóstico en cualquier etapa de la vida en que se presenten. Reportamos un caso recibido en el Departamento de Patología del Hospital Universitario San Ignacio: feto femenino con masa tumoral en región submandibular derecha dependiente del lóbulo temporal cerebral derecho, con el cual se comunica a través del esfenoides ipsilateral. Histológicamente se diagnosticó teratoma inmaduro del sistema nervioso central. La mayor dificultad diagnóstica se presentó en la graduación de inmadurez, por corresponder a un feto, cuyos tejidos son, de por sí, inmaduros.
Teratomas are embyonic tumors associated with erroneous prognosis at any life stage. We report on a case from the Department of Pathology, San Ignacio University Hospital, Bogota: a female fetus with tumoral mass in the right submandibular region within the right cerebral temporal lobule linked through the ipsilateral sphenoid. An immature teratoma of the central nervous system was histologically diagnosed. The major diagnostic difficulty encountered was determining degree of immaturity, due to the fact that fetal tissue is by definition immature.
