Albinismo ocular con mutación en GPR143: hallazgos en autofluorescencia de campo amplio y tomografía de coherencia óptica / Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography

Varón de 12 años que consulta por nistagmo y visión baja desde el nacimiento. Su madre también consulta por visión baja de ojo derecho desde pequeña que empeoró últimamente. El examen físico no reveló alteraciones en la pigmentación de piel y cabello. En el examen del segmento anterior del niño se observaron áreas de hipopigmentación circunferencial leve de iris en ambos ojos. El examen de fondo de ojo reveló un fondo coroideo por ausencia de melanina en el epitelio pigmentario retiniano. En la autofluorescencia se observa una ausencia de la hipoautofluorescencia macular fisiológica y en la tomografía de coherencia óptica se objetivó hipoplasia foveal en ambos ojos. En el examen de fondo de ojo de la madre se observaron cambios pigmentarios maculares tenues en el ojo derecho y unas manchas radiadas hiperpigmentadas en la periferia retiniana de ambos ojos que en la autofluorescencia de campo amplio se vieron hipoautofluorescentes. En la tomografía de coherencia óptica del ojo derecho se objetivó una cavitación de las capas externas retinianas en la fóvea. Se hace el estudio genético por secuenciación nucleotídica en madre e hijo y se encuentra una mutación en el gen GPR143: el niño fue hemicigote y la madre heterocigote. Se diagnostica albinismo ocular ligado a X y se realiza el aconsejamiento genético respectivo. El albinismo ocular ligado a X es la variante genética más frecuente de esta enfermedad. Si bien las alteraciones pigmentarias periféricas en las madres heterocigotas fueron descritas en la literatura previamente, no existen reportes de cavitaciones en las capas retinianas externas por tomografía de coherencia óptica

A 12 year-old boy who consulted due to nystagmus and low vision from birth. His mother also consulted for low vision of the right eye since she was a child, which worsened recently. The physical examination revealed no alterations in skin and hair pigmentation. In the examination of the anterior segment of the child, areas of slight circumferential hypopigmentation were observed in the iris in both eyes. The fundus examination revealed a choroidal fundus due to the absence of melanin in the retinal pigment epithelium. In the autofluorescence, an absence of physiological macular hypo-autofluorescence was observed and, in optical coherence tomography, foveal hypoplasia was observed in both eyes. In the ocular fundus examination of the mother, slight macular pigmentary changes were observed in the right eye, with hyperpigmented radiated spots in the retinal periphery of both eyes, which were hypo-autofluorescent in the wide-field autofluorescence. In the optical coherence tomography of the right eye, a cavitation of the outer retinal layers was observed in the fovea. The genetic study by nucleotide sequencing was performed on the mother and the child. In the mutation found in the GPR143 gene, the son was hemizygous and the mother was heterozygous. X-linked ocular albinism was diagnosed and the genetic counselling was carried out. Ocular albinism linked to X is the most frequent genetic variant of this disease. Peripheral pigment alterations in heterozygous mothers have been previously described in the literature, but there are no reports of cavitations in the external retinal layers using optical coherence tomography

Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography. / Albinismo ocular con mutación en GPR143: hallazgos en autofluorescencia de campo amplio y tomografía de coherencia óptica.

A 12 year-old boy who consulted due to nystagmus and low vision from birth. His mother also consulted for low vision of the right eye since she was a child, which worsened recently. The physical examination revealed no alterations in skin and hair pigmentation. In the examination of the anterior segment of the child, areas of slight circumferential hypopigmentation were observed in the iris in both eyes. The fundus examination revealed a choroidal fundus due to the absence of melanin in the retinal pigment epithelium. In the autofluorescence, an absence of physiological macular hypo-autofluorescence was observed and, in optical coherence tomography, foveal hypoplasia was observed in both eyes. In the ocular fundus examination of the mother, slight macular pigmentary changes were observed in the right eye, with hyperpigmented radiated spots in the retinal periphery of both eyes, which were hypo-autofluorescent in the wide-field autofluorescence. In the optical coherence tomography of the right eye, a cavitation of the outer retinal layers was observed in the fovea. The genetic study by nucleotide sequencing was performed on the mother and the child. In the mutation found in the GPR143 gene, the son was hemizygous and the mother was heterozygous. X-linked ocular albinism was diagnosed and the genetic counselling was carried out. Ocular albinism linked to X is the most frequent genetic variant of this disease. Peripheral pigment alterations in heterozygous mothers have been previously described in the literature, but there are no reports of cavitations in the external retinal layers using optical coherence tomography.

Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder.

Biotin is the prosthetic group of carboxylases that have important roles in the metabolism of glucose, fatty acids and amino acids. Biotinidase has a key role in the reutilization of the biotin, catalyzing the hydrolysis of biocytin (ε-N-biotinyl-l-lysine) and biocytin-containing peptides derived from carboxylase turnover, thus contributing substantially to the bioavailability of this vitamin. Deficient activity of biotinidase causes late-onset multiple carboxylase in humans, whose pathogenic mechanisms are poorly understood. Here we show that a knock-out biotinidase-deficient mouse from a C57BL/6 background that was fed a low biotin diet develops severe ATP deficit with activation of the energy sensor adenosine monophosphate (AMP)-activated protein kinase (AMPK), inhibition of the signaling protein mTOR, driver of protein synthesis and growth, and affecting the expression of central-carbon metabolism genes. In addition, sensitivity to insulin is augmented. These changes are similar to those observed in nutritionally biotin-starved rats. These findings further our understanding of the pathogenesis of human biotinidase deficiency.

[Paediatric emergency triage in Spanish primary care using mobile phones. Analysis of a model in a health area]. / Triaje de las urgencias pediátricas en Atención Primaria en España mediante telefonía móvil. Análisis de un modelo en una zona de salud.

OBJECTIVES: To conduct a pilot study of telephone consultation in the paediatric population of an urban health centre. To evaluate the telephone consultation as an effective tool when it comes to exercising prior triage of patients requiring urgent attention. MATERIAL AND METHODS: The study was conducted in two phases. In the first, data were collected from all calls received for six months. In a second phase, we conducted a telephone intervention study to analyse what a random sample of users remembered of the care provided. All those who requested a telephone consultation were included in the study. Demographic, social-welfare, epidemiological, and clinical features, of each patient were recorded. Data were processed using a statistical package SPSS version 17.0 for Windows. RESULTS: There were 439 telephone inquiries in our pilot project, of which 35.1% were attended by residents, 36% by paediatricians, and 28.9% by paediatric nurses. There were more telephone calls in the afternoons and on weekends. Patients less than or equal to 2 years accounted for 57.9% of cases handled, and there were no differences between sexes. The most frequent reasons for consultation were gastrointestinal symptoms, fever and respiratory problems. The health problem was resolved in 85.8% of cases, requiring only home care instructions, and only 13.3% of children were referred to emergency services. We obtained a mean score of satisfaction of 9.2. CONCLUSIONS: The pilot project had a high level of satisfaction and resolution, demonstrating cost savings by reducing 55% of face to face visits, with a saving of 35.2 euros per telephone consultation. A teleconsultation model for dealing with emergencies in primary care by telephone would be comparable to a practice staffed by trained paediatric nurses.

Invasión de viento sahariano y su impacto en la asistencia sanitaria urgente / Saharian wind invasion and impact on emergency health care

Objetivo: Evaluar la influencia que el polvo sahariano en suspensión ejerce sobre la demanda asistencial urgente. Método: Diseño: Estudio descriptivo longitudinal. Ámbito: Servicio de Urgencias de Hospital Universitario de 3er nivel. Sujetos: Todos los pacientes (n=705) mayores de 14 años que solicitaron asistencia urgente por patología médica y que estuvieron expuestos al polvo en suspensión; como grupo control, todos los pacientes (n=662) que la solicitaron en el mismo período del año anterior sin haber estado expuestos a dicho fenómeno atmosférico. Mediciones: La variable principal dependiente fue el diagnóstico del paciente al alta; edad y sexo eran las variables secundarias. Se realizó análisis de la distribución de frecuencias, tablas de contingencia y Chi-cuadrado con nivel de significación del 5 por ciento. Resultados: En días de polución la frecuencia de crisis asmática fue 8,9 por ciento, cerca de 10 veces más que en el grupo control (p<0,05). Tras dos días de exposición, la atención por broncopatía crónica reagudizada fue 1,5 veces mayor que en el período control (p<0.05). Durante el periodo estudiado, los trastornos de ansiedad y dolor torácico atípico fueron 5 y 7,4 veces más frecuentes, respectivamente (p<0,05). No se observó un aumento significativo de casos de cardiopatía isquémica. Conclusiones: La presencia de polvo sahariano en suspensión condiciona un aumento de la demanda asistencial urgente por patología respiratoria, trastornos de ansiedad y dolores torácicos atípicos. Deberían proponerse medidas para detección precoz e información a la población de riesgo sobre medidas preventivas (AU)