64 research outputs found
Shoshin Beriberi and Severe Accidental Hypothermia as Causes of Heart Failure in a 6-Year-Old Child: A Case Report and Brief Review of Literature
Severe accidental hypothermia has been demonstrated to affect ventricular systolic and diastolic functions, and rewarming might be responsible of cardiovascular collapse. Until now, there have been only a few reports on severe accidental hypothermia, none of which involved children. Herein, we describe here a rare case of heart failure in a 6-year-old boy admitted to the emergency unit owing to severe hypothermia and malnutrition. After he was warmed up (core temperature of 27.2°C at admission), he developed cardiac arrest, requiring vasoactive amines administration, and veno-arterial extracorporeal membrane oxygenation. Malnutrition and refeeding syndrome might have caused the thiamine deficiency, commonly known as beriberi, which contributed to heart failure as well. He showed remarkable improvement in heart failure symptoms after thiamine supplementation. High-dose supplementation per os (500 mg/day) after reconstitution of an adequate electrolyte balance enabled the patient to recover completely within 2 weeks, even if a mild diastolic cardiac dysfunction persisted longer. In conclusion, we describe an original pediatric case of heart failure due to overlap of severe accidental hypothermia with rewarming, malnutrition, and refeeding syndrome with thiamine deficiency, which are rare independent causes of cardiac dysfunction. The possibility of beriberi as a cause of heart failure and adequate thiamine supplementation should be considered in all high-risk patients, especially those with malnutrition. Refeeding syndrome requires careful management, including gradual electrolyte imbalance correction and administration of a thiamine loading dose to prevent or correct refeeding-induced thiamine deficiency
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria:A comparison between two genetic disorders affecting the same metabolic pathway
Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients. We included 33 TT1 patients (mean age 11.24 years; 16 male), 31 PKU patients (mean age 10.84; 14 male), and 58 age- and gender-matched healthy controls (mean age 10.82 years; 29 male). IQ (Wechsler-subtests), executive functioning (the Behavioral Rating Inventory of Executive Functioning), mental health (the Achenbach-scales), and social functioning (the Social Skills Rating System) were assessed. Results of TT1 patients, PKU patients, and healthy controls were compared using Kruskal-Wallis tests with post-hoc Mann-Whitney U tests. TT1 patients showed a lower IQ and poorer executive functioning, mental health, and social functioning compared to healthy controls and PKU patients. PKU patients did not differ from healthy controls regarding these outcome measures. Relatively poor outcomes for TT1 patients were particularly evident for verbal IQ, BRIEF dimensions "working memory", "plan and organize" and "monitor", ASEBA dimensions "social problems" and "attention problems", and for the SSRS "assertiveness" scale (all p value
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
International audienceWe investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi–Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64–25.71) compared with controls (median: 0.93, IQR: 0.57–1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context
Alternative ketogenic diets in glucose transporter type 1 deficiency syndrome
SCOPUS: no.jFLWINinfo:eu-repo/semantics/publishe
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64-25.71) compared with controls (median: 0.93, IQR: 0.57-1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context.0SCOPUS: ar.jinfo:eu-repo/semantics/publishe
Dietary practices in propionic acidemia: A European survey
Background The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. Aim To describe European dietary practices in the management of patients with PA prior to the publication of the European PA guidelines. Methods This was a cross-sectional survey consisting of 27 questions about the dietary practices in PA patients circulated to European IMD dietitians and health professionals in 2014. Results Information on protein restricted diets of 186 PA patients from 47 centres, representing 14 European countries was collected. Total protein intake [PA precursor-free L-amino acid supplements (PFAA) and natural protein] met WHO/FAO/UNU (2007) safe protein requirements for age in 36 centres (77%). PFAA were used to supplement natural protein intake in 81% (n = 38) of centres, providing a median of 44% (14–83%) of total protein requirement. Seventy-four per cent of patients were prescribed natural protein intakes below WHO/FAO/UNU (2007) safe levels in one or more of the following age groups: 0–6 m, 7–12 m, 1–10 y, 11–16 y and > 16 y. Sixty-three per cent (n = 117) of patients were tube fed (74% gastrostomy), but only 22% received nocturnal feeds. Conclusions There was high use of PFAA with intakes of natural protein commonly below WHO/FAO/UNU (2007) safe levels. Optimal dietary management can only be determined by longitudinal, multi-centre, prospective case controlled studies. The metabolic instability of PA and small patient cohorts in each centre ensure that this is a challenging undertaking.0SCOPUS: ar.jinfo:eu-repo/semantics/publishe
Dietary practices in isovaleric acidemia: A European survey
Background In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. Aim To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). Methods A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA. Results Information on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed. Conclusions This survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.0SCOPUS: ar.jinfo:eu-repo/semantics/publishe
Homocysteine in pediatric population and vitamine b status
SCOPUS: re.jinfo:eu-repo/semantics/publishe
Nutritional status of neurologically impaired children: Impact on comorbidity.
peer reviewedBACKGROUND AND AIMS: Malnutrition is common in neurologically impaired (NI) children. It is, however, ill-defined and under-diagnosed. If not recognized and treated, it increases the burden of comorbidities and affects the quality of life of these children. The aim of this study was to characterize the nutritional status of a cohort of children followed up at a reference center for cerebral palsy (CP) in Brussels, Belgium, and to investigate possible links with the occurrence of comorbidities. MATERIAL AND METHODS: We conducted a single-center retrospective study including all the children followed up at the Inter-university Reference Center for Cerebral Palsy ULB-VUB-ULg. The data were obtained by reviewing medical files. Anthropometric measurements as well as the etiology of neurological impairment, comorbidities, feeding patterns, and laboratory test results were collected. The children were assigned a nutritional diagnosis according to the World Health Organization and Waterlow definitions. RESULTS: A total of 260 children with cerebral palsy were included, 148 males and 112 females. Their mean age was 10.9+/-4.3 years. The gross motor function classification system (GMFCS) level was I for 79 children, II for 63 children, III for 35 children, IV for 33 children, and V for 50 children. Of the children, 54% had a normal nutritional status, 34% showed malnutrition, and 8% were obese; 38% had oropharyngeal dysphagia. The sensitivity of mean upper arm circumference of<p10 to detect severe malnutrition was 95%. Specific growth charts for CP were neither sensitive nor specific for predicting the risk of comorbidities. Malnutrition was associated with an increased risk of comorbidities (relative risk of 2.4 [1.7; 3.4]). It was also associated with the occurrence of pneumonia, pressure ulcers, and pathological bone fracture. DISCUSSION AND CONCLUSION: Children who are NI should be systematically and thoroughly screened for malnutrition, in the hope of offering early nutritional support and reduce comorbidities
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