Neurological presentations revealing acquired copper deficiency: diagnosis features, aetiologies and evolution in seven patients.

BACKGROUND: Acquired copper deficiency (ACD) is a rare condition usually diagnosed from haematological changes. AIMS: To characterise the diagnosis features and the evolution of patients with ACD revealed by neurological symptoms. METHODS: Clinical, biological and magnetic resonance imaging (MRI) data were prospectively analysed at diagnosis and during follow up under copper supplementation. RESULTS: Seven patients were studied over a 5-year period. Time to diagnosis ranged from 2.5 to 15 months. Subacute ascending paraesthesias and gait disorder were the first symptoms. All patients had a posterior cord syndrome (PCS) with sensory ataxic gait associated with superficial hypoesthesia of the feet; 50% had also lateral cord signs. Electrodiagnostic tests diagnosed a lower limb sensory neuropathy in four patients. Spinal cord MRI was normal in three of seven patients. Anaemia and lymphopenia were diagnosed in six of seven patients. Serum copper was always low, and urinary copper was low or normal. Serum and urinary zinc were high in four patients. Decreased copper intake (stoma/parenteral nutrition, malnutrition, malabsorption with lack of vitamin supplementation after bariatric or other digestive surgeries) was found in four patients, and the chronic use of denture adhesive paste containing zinc was discovered in four patients. One patient had both the causes recorded. After copper supplementation, copper balance and then haematological disturbances were the first features to normalise gradually in 2 months. Radiological myelitis disappeared in 10 months, whereas neurological symptoms improved in six of seven patients after a mean follow up of 2 years. CONCLUSIONS: Progressive PCS with anaemia and lymphopenia must raise the possibility of an ACD. Early copper supplementation could increase the neurological prognosis.

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)

Lymphocyte count as a sign of immunoparalysis and its correlation with nutritional status in pediatric intensive care patients with sepsis: A pilot study.

OBJECTIVES:: Developing malnutrition during hospitalization is well recognized worldwide, and children are at a relatively higher risk for malnutrition than adults. Malnutrition can lead to immune dysfunction, which is associated with a higher mortality rate due to sepsis, the most frequent cause of death in pediatric intensive care units (PICUs). The aim of this study was to investigate whether malnourished patients are more likely to have relative or absolute lymphopenia and, consequently, worse prognoses. METHODS:: We enrolled 14 consecutive patients with sepsis whose legal representatives provided written informed consent. Patients were classified as normal or malnourished based on anthropometric measurements. As an additional evaluation of nutritional status, serum albumin and zinc were measured on the 1st and 7th days of hospitalization. Lymphocyte count was also measured on the 1st and 7th days. Clinicaltrials.gov: NCT02698683. RESULTS:: Malnutrition prevalence rates were 33.3% and 42.8% based on weight and height, respectively. Laboratory analyses revealed a reduction of serum albumin in 100% of patients and reduction of zinc in 93.3% of patients. A total of 35% of patients had fewer than 500 lymphocytes/mm3 on their first day in the PICU. Lymphocyte counts and zinc concentrations significantly increased during hospitalization. CONCLUSIONS:: Nutritional evaluations, including anthropometric measurements, were not correlated with lymphocyte counts. Lymphocyte counts concomitantly increased with zinc levels, suggesting that micronutrient supplementation benefits patients with sepsis.

Lymphocyte count as a sign of immunoparalysis and its correlation with nutritional status in pediatric intensive care patients with sepsis: A pilot study

OBJECTIVES: Developing malnutrition during hospitalization is well recognized worldwide, and children are at a relatively higher risk for malnutrition than adults. Malnutrition can lead to immune dysfunction, which is associated with a higher mortality rate due to sepsis, the most frequent cause of death in pediatric intensive care units (PICUs). The aim of this study was to investigate whether malnourished patients are more likely to have relative or absolute lymphopenia and, consequently, worse prognoses. METHODS: We enrolled 14 consecutive patients with sepsis whose legal representatives provided written informed consent. Patients were classified as normal or malnourished based on anthropometric measurements. As an additional evaluation of nutritional status, serum albumin and zinc were measured on the 1st and 7th days of hospitalization. Lymphocyte count was also measured on the 1st and 7th days. Clinicaltrials.gov: NCT02698683. RESULTS: Malnutrition prevalence rates were 33.3% and 42.8% based on weight and height, respectively. Laboratory analyses revealed a reduction of serum albumin in 100% of patients and reduction of zinc in 93.3% of patients. A total of 35% of patients had fewer than 500 lymphocytes/mm3 on their first day in the PICU. Lymphocyte counts and zinc concentrations significantly increased during hospitalization. CONCLUSIONS: Nutritional evaluations, including anthropometric measurements, were not correlated with lymphocyte counts. Lymphocyte counts concomitantly increased with zinc levels, suggesting that micronutrient supplementation benefits patients with sepsis.

Screening newborns for primary T-cell immunodeficiencies: consensus and controversy.

Newborn screening for early identification of T-cell lymphopenia and severe combined immunodeficiency has recently been recommended as an addition to the newborn screening programs in all states. This article will review the evidence supporting the use of this newborn screening test, and will outline the barriers to nationwide implementation, which include issues specific to this test and controversies regarding newborn screening in general.

Hiperplasia nodular linfoide en un paciente con inmunodeficiencia combinada grave / Lymphoid nodular hyperplasia in a patient with severe combined immunodeficiency disease

Describimos un caso de hiperplasia nodular linfoide en el contexto de un cuadro de inmunodeficiencia combinada grave. La paciente refería estreñimiento y crisis de dolor abdominal, presentando en la exploración una voluminosa masa abdominal. Los exámenes radiológicos iniciales hicieron sospechar el diagnóstico, pero fue necesaria la realización de una biopsia intestinal con el fin de descartar una afectación linfomatosa. Queremos llamar la atención sobre la semiología radiológica de esta entidad, que si bien en principio puede ser un hallazgo casual sin significado patológico, requiere una especial atención especialmente en sujetos inmunodeficientes (AU)

[Prevention of early inflammatory complications after transthoracic interventions and estimation of the degree of immunologic deficiency]. / Profilaktika rannikh vospalitel'nykh oslozhnenii posle trans- torakal'nykh vmeshatel'stv s uchetom vyrazhennosti immunodefitsita.

An analysis of the results of the examination and treatment of 379 patients undergoing transthoracic interventions showed that the use of the target-aimed selective immunomodulation, short-term antibacterial prophylaxis, inhibitors of arachidonic acid metabolites, active elimination of the circulating immune complexes and medium-weight molecular peptides and adequate local analgesia after the interventions providing normalization of the laryngeal reflex and early activation of the patients permitted the incidence of the pulmonary complications to be decreased by 2.5 times, pleural complications by 1.7 times, suppuration of the postoperative wound by 1.8 times and the total expenses by 25.6 per cent.

Evaluation for immune system failures in horses and ponies.

Between January 1973 and September 1979, 2,092 horses and ponies were evaluated for immunologic disorders. A total of 418 abnormalities were detected in 416 (20%) of the animals tested. Disorders encountered were failure or partial failure of colostral immunoglobulin transfer from mare to foal (228 cases), combined immunodeficiency (159 cases), selective immunoglobulin M deficiency (19 cases), agammaglobulinemia (3 cases), transient hypogammaglobulinemia (2 cases), and lymphosarcoma (7 cases). Four conclusions were drawn from the study. (1) Immunologic abnormalities occur commonly in horses and ponies. (2) Failure and partial failure of passive transfer were the most common disorders, involving 19.7% of surveyed foals at risk. (3) Combined immunodeficiency remains a disease limited to Arabian horses. (4) Considering the high frequency of immunologic disorders in horses and the availability of diagnostic tests for the disorders, older animals with recurrent infections as well as all newborn foals should be evaluated for immune disorders.