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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is a very rare autosomal recessive inborn error of ketone body synthesis and presents with hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, and hepatomegaly with fatty liver precipitated by catabolic stress. We report acute presentation of two patients from unrelated two families with novel homozygous c.862CT and c.725-2AC mutations, respectively, in HMGCS2 gene. Affected patients had severe hypoketotic hypoglycemia, lethargy, encephalopathy, severe metabolic and lactic acidosis and hepatomegaly after infections. Surprisingly, molecular screening of the second family showed more affected patients without clinical findings. These cases expand the clinic spectrum of this extremely rare disease.

The aim of this study was to determine the frequency and the risk factors of stress induced gastrointestinal bleeding (GIB) in critically ill children, and to investigate the effect of prophilaxis. The setting was a 14-beded, tertiary care PICU.Records of 182 children admitted consecutively from December 2012 to May 2013 were retrospectively reviewed. 136 patients were eligible. The age ranged from 40 days to 18 years. Diagnosis, demographic data, risk factors, administration of prophilaxis, drugs used in medication, prescence and degree of GIB and complications were recorded.The male-female ratio was 1.3. Mean age was 5.9. Mean PRISM III score was 12.2 and 49.3% had PRISM Score ≥10. Most frequent diagnosis was infectious diseases. Sixtyone (44.9%) children received prophylaxis in which antacids was used in 28 (45.9%), sucralfate in 18 (29.5%), proton pomp inhibitors (PPIs) in 51 (83.6%) and 5 (8.2%) received H2 reseptor antagonist. The incidence of GIB was 15.4% (N.=21), in which 66.7% (N.=14) were mild, 23.8% (N.=5) were moderate, 4.8% (N.=1) was significant and 4.8% (N.=1) was massive. In children who received prophylaxis 17 (27.9%) cases developed GIB. Mechanical ventilation was found to be the only risk factor significantly associated with stress induced GIB. Also; mechanical ventilation and trauma was strongly significant (P0.001) and coagulopathy/thrombocytopenia, PRISM III ≥10, renal and hepatic failure, hypotension, and heart failure/arrhythmia was found to be associated with the development of GIB in critically ill children (P0.05).GIB is a serious concern for PICU clinicians and intensivists are confused about the conflicting evidence supporting prophilaxis. We believe that prophylaxis could be beneficial for mechanically ventilated children. Also trauma, coagulopathy/thrombocytopenia, PRISM III≥10, renal and hepatic failure, hypotension, and heart failure/arrhythmia must be kept in mind as risk factors requiring attention in PICU setting.

International audience; To analyze the longitudinal relationships between vision loss and the risk of dementia in the first 2 years, from 2 to 4 years and beyond 4 years after inclusion and to determine the roles of depressive symptomatology and engagement in cognitively stimulating activities in these associations. This study is based on the Three-City (3C) study, a population-based cohort of 7736 initially dementia-free participants aged 65 years and over with 12 years of follow-up. Near visual impairment (VI) was measured and distance visual function (VF) loss was self-reported. Dementia was diagnosed and screened over the 12-year period. At baseline, 8.7% had mild near VI, 4.2% had moderate to severe near VI, and 5.3% had distance VF loss. Among the 882 dementia cases diagnosed over the 12-year follow-up period, 140 cases occurred in the first 2 years, 149 from 2 to 4 years and 593 beyond 4 years after inclusion. In Cox multivariate analysis, moderate to severe near VI was associated with an increased risk of dementia in the first 2 years (HR 2.0, 95% CI 1.2-3.3) and from 2 to 4 years (HR 1.8, 95% CI 1.1-3.1) but the association was not significant beyond 4 years after inclusion even if pointing in similar direction (HR 1.3, 95% CI 0.95-1.9). Mild near VI was associated with an increased risk of dementia only in the first 2 years (HR 1.6, 95% CI 1.1-2.5). Moreover, self-reported distance VF loss was associated with an increased risk beyond 4 years after inclusion (HR 1.5, 95% CI 1.1-2.0) but the association was no longer significant after taking into account baseline cognitive performances. Further adjustment for engagement in cognitively stimulating activities only slightly decreased these associations. However, there was an interaction between vision loss and depressive symptomatology, with vision loss associated with dementia only among participants with depressive symptomatology. These results suggest that poor vision, in particular near vision loss, may represent an indicator of dementia risk at short and middle-term, mostly in depressed elderly people.