Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

BACKGROUND: Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability. AIMS: To update disease-causing mutations and current clinical knowledge of the disease. MATERIALS AND METHODS: Genetic and clinical information were obtained from a collection of both unreported and previously reported cases. RESULTS: We report 106 families, represented by 143 individuals, carrying a total of 36 genetic variants, 11 of them not previously known to be associated with the disease. Variants include 3 large deletions, 21 non-synonymous and 5 nonsense amino-acid changes, 5 frameshifts and 2 splice variants. We also report 5 patients from Gran Canaria, representing the largest known group of unrelated families sharing the same P406L mutation. CONCLUSIONS: Data analysis did not reveal a genotype-phenotype correlation, but stressed the need of early diagnosis: All patients improved the oculocutaneous lesions after dietary treatment but neurological symptoms prevailed. The discovery of founder mutations in isolated populations, and the benefits of early intervention, should increase diagnostic awareness in newborns.

Diagnóstico de miastenia grave neonatal transitoria a la cabecera del paciente / Bedside diagnosis of transiest neonatal myasthenia gravis

El diagnóstico de miastenia grave en el periodo neonatal es un hecho infrecuente. Los antecedentes familiares y el examen clínico deben orientar a la realización de un test farmacológico anticolinesterasa, mediante el cual se consiguen cambios en la expresión facial y la conducta motora del paciente que permiten establecer finalmente el diagnóstico. Este tipo de iconografía no es frecuente en la bibliografía (AU)

Hipotensión arterial en el recién nacido de muy bajo peso / Arterial hypotension in the very low weight newborn

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[Fatty acid concentration analysis in colostrum and transitional milk]. / Análisis de la concentración de ácidos grasos en calostro y leche de transición.

OBJECTIVES: We have studied the quantitative differences in the percent fatty acid composition of human milk throughout its maturational process. MATERIAL AND METHODS: We analyzed milk, obtained by an electrical milk extractor (EGNELL LACT-E AMEDA), from 24 women at 3 days (colostrum) and 7 (transitional milk) after delivery. A Varian 3300 chromatograph was used for fatty acid evaluation. At 48 hours after delivery, the lipid status of the maternal blood was also evaluated. RESULTS: The mean age of the mothers was 27.4 +/- 3.7 years, with 54% primiparous and the mean weight of the newborns was 3117.5 +/- 678.6 g. Comparing colostrum with transitional milk showed a statistically significant difference between saturated fatty acids (C8, C13, and C15) and polyunsaturated fats (C18:3 and C20:4). The concentration of C13, C15, C17, C18, C16:1 and C18:1 obtained in colostrum correlated with those in transitional milk. Serum maternal lipid concentrations of cholesterol and LDL influenced milk levels of C18:2, C18:3 and C20:4. On the contrary, we could not demonstrate a similar influence on triglycerides, apoprotein A or B.

[High frequency oscillatory ventilation in the preterm newborn infants with respiratory distress syndrome]. / Ventilación de alta frecuencia de casos rescatados en recién nacidos pretérminos con síndrome de distrés respiratorio.

OBJECTIVE: The objective of this study was to evaluate the efficiency and response of gas exchange by the use of high frequency respiratory modalities in cases rescued after failure of conventional mechanical ventilation. PATIENTS AND METHODS: A retrospective study of twelve premature infants that required high frequency ventilation (HFV) as rescue therapy for treatment of respiratory distress syndrome (RDS) because of failure of conventional mechanical ventilation (CNV) were studied. The mean weight and gestational age were 1,041 gr (500-1,730) and 28 weeks (26-34), respectively. Fifty percent of the infants weighed less than 1,000 grams. Two different respiratory apparatus were used. Five infants were treated using Infant Star and seven with Babylog 8000. The variables were analyzed by comparison of the means with significance taken as p < 0.05. RESULTS: High frequency ventilation was initiated at 24 hours of life (2-86) and the mean duration was 33 hours (1-133). We saw a significant improvement in oxygenation after starting HFV and during the first and second controls after HFV initiation. PaO2 increased from 59 mmHg to 87 (HFV-initial), 119 mmHg (HFV-first control) and 98 mmHg (HFV second control; p < 0.05). Likewise, a/AO2 increased from 0.087 to 0.13 (HFV-initial), 0.19 (HFV-first control) and and 0.18 (HFV-second control; p < 0.05). The oxygenation index (OI) decreased from 23 to 16 (HFV-initial p < 0.05) and to 11 during the first and second controls (p < 0.01). Despite the improvement in oxygenation, there were no differences in mean airway pressure levels. We did not see any change in PaCO2 levels. The mortality rate was 58%, with a mean age at death of 82 hours of life (6-264). CONCLUSIONS: High frequency ventilation might be used as a rescue therapy for treatment of respiratory distress syndrome since there is an improvement in oxygenation.