Tamización neonatal para linfopenias congénitas y otras enfermedades raras en el mundo / Newborn screening lymphopenias and other rare disease in the world

Las enfermedades raras son de baja frecuencia en una población, se caracterizan por ser crónicamente debilitantes, tener abordaje complejo y, en algunos casos, ser potencialmente mortales. Las pruebas de tamización neonatal pretenden detectar oportunamente a individuos con estas patologías antes que la enfermedad se manifieste, para prevenir una potencial discapacidad o la muerte. Actualmente, Estados Unidos de América cuenta con un panel de 32 enfermedades para tamización, siendo la espectrometría de masas en tándem la prueba más empleada para su estudio. Canadá, Europa, Asia y África evidencian un panorama heterogéneo a este respecto, influenciado por la incidencia de la enfermedad en la población, el aporte económico gubernamental y el acceso a la tecnología necesaria para su realización. En América Latina, la tamización neonatal ha tenido un desarrollo lento comparado con otras regiones, aunque existen países pioneros en estos programas. Como política pública, Colombia solo tamiza hipotiroidismo congénito, sin embargo, actualmente se adelantan estudios pilotos para la tamización neonatal de errores innatos del metabolismo y linfopenias congénitas. La identificación temprana de linfopenias congénitas ha tenido gran impacto socioeconómico en varios países, no solo para el sistema de salud sino también en la calidad de vida de los pacientes afectados. Aunque existen discrepancias éticas con el desarrollo de estos paneles, es evidente su crecimiento exponencial, lo que abre un nuevo panorama de salud pública enfocada a la prevención de la enfermedad y promoción de la salud en el mundo (AU)

Rare diseases are those with low frequency in a population7 however, they are chronically debilitating, have complex management approaches and in some cases, they are life threatening. Newborn screening has been developed to timely detect these conditions before the disease manifests, to prevent disability or death. Currently, United States of America screens a panel of 32 conditions and tandem mass spectrometry has became the most widely used methodology. Canada, Europe, Asia and Africa reveal a heterogeneous scenario, influenced by the disease incidence in the population, the government7s economic contribution and the access to technology. In Latin America, newborn screening has exhibited a more delayed development compared to other regions however, some countries are pioneers of these programs. As public policy, Colombia screens only congenital hypothyroidism, however, ongoing pilot studies for inborn errors of metabolism and congenital lymphopenia are being developed. Early identification of congenital lymphopenias has demonstrated in several countries considerable socioeconomic impact not only for health care providers but also for the patient quality of life. Although ethical concerns related to the development of newborn screening exist, the exponential growth of these programs opens new public health perspectives focused on prevention of disease and promotion of health worldwide (AU)

Current state and future perspectives of the Latin American Society for Immunodeficiencies (LASID)

Primary immunodeficiencies (PID) are genetic diseases that affect the immune system and for the last 20 years, the Latin American Society for Immunodeficiencies (LASID) has been promoting initiatives in awareness, research, diagnosis, and treatment for the affected patients in Latin America. These initiatives have resulted in the development of programmes such as the LASID Registry (with 4900 patients registered as of January 2014), fellowships in basic and clinical research, PID summer schools, biannual meetings, and scientific reports, amongst others. These achievements highlight the critical role that LASID plays as a scientific organisation in promoting science, research and education in this field in Latin America. However, challenges remain in some of these areas and the Society must envision additional strategies to tackle them for the benefit of the patients. In June 2013, a group of experts in the field met to discuss the contributions of LASID to the initiatives of PID in Latin America, and this article summarises the current state and future perspectives of this society and its role in the advance of PIDs in Latin America

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Guidelines for the use of human immunoglobulin therapy in patients with primary immunodeficiencies in Latin America

Antibodies are an essential component of the adaptative immune response and hold long-term memory of the immunological experiences throughout life. Antibody defects represent approximately half of the well-known primary immunodeficiencies requiring immunoglobulin replacement therapy. In this article, the authors review the current indications and therapeutic protocols in the Latin American environment. Immunoglobulin replacement therapy has been a safe procedure that induces dramatic positive changes in the clinical outcome of patients who carry antibody defects

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Análisis etiológico de 425 pacientes remitidos a una consulta extrahospitalaria de neurología por temblor o parkinsonismo / Aetiological analysis of 425 patients referred to an outpatient neurology service due to tremor or Parkinsonism

Análisis etiológico de 425 pacientes remitidos a una consulta extrahospitalaria de neurología por temblor o parkinsonismo (AU)

Introduction. Movement disorders are a common reason for visits to outpatient neurology departments. This study has two objectives. The first is to analyse the diagnoses of patients referred to the neurology service due to tremor or Parkinsonism. The second aim is to analyse whether such patients are referred from primary care correctly or incorrectly. Patients and methods. The study examines patients referred from primary care to the neurology service in a medical specialty centre because of tremor or Parkinsonism. The final diagnoses established by the neurologist were analysed and patient referral was also analysed using a set of previously agreed criteria. Results. The sample consisted of 425 consecutive patients who were referred from primary care due to tremor (n = 294) or Parkinsonism (n = 131). The most common diagnoses were Parkinson’s disease (n = 211; 50%), essential tremor (n = 157; 37%) and pharmacological Parkinsonism (n = 23; 5%). Referral was considered to be incorrect in 39 patients and correct in 388 cases (91%). The causes of incorrect referrals were: pharmacological Parkinsonism (n = 23), anxiety that was not treated in primary care (n = 12) and hypothyroidism that went undiagnosed in primary care (n = 4). Conclusions. Parkinson’s disease, essential tremor and pharmacological Parkinsonism are the most frequent diagnoses in patients who are referred from primary care because of tremor and Parkinsonism. Referral to a neurology service is correct in most cases, but there is still room for improvement (AU)

Diagnosing the hyper-IgE syndrome: incidence of clinical features

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