Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease

AIM--To assess the value and safety of fasts for investigating hypoglycaemia or suspected metabolic disease. STUDY DESIGN--Review of all diagnostic fasts performed over a 2.5 year period. SETTING--The neonatal intensive care unit and programmed investigation unit at a tertiary referral centre for endocrinology and metabolic disease. RESULTS--138 diagnostic fasts were performed during the study period. Hypoglycaemia (< 2.6 mmol/l) occurred in 54 cases but in only four did the blood glucose concentration fall below 1.5 mmol/l. One patient became unwell as a result of a fast, but prompt treatment averted any sequelae. Specific endocrine or metabolic defects were identified in 30 cases, the most common being hyperinsulinism and beta-oxidation defects. CONCLUSIONS--Fasting is safe if conducted on an experienced unit with appropriate guidelines. It continues to provide useful information for diagnosis and management, particularly in cases of hyperinsulinism. Diagnoses should, however, be established by lower risk procedures whenever possible. Thus specimens for metabolic and endocrine studies should be obtained during the presenting episode and blood acylcarnitine species should be analysed prior to fasting.     

Clinical and laboratory findings in referrals for mitochondrial DNA analysis

BACKGROUND: Increasingly, mutations of mitochondrial DNA (mtDNA) are being considered when investigating the aetiology of neurological diseases in childhood. However, they are often difficult to predict clinically. METHOD: Mitochondrial DNA analysis was carried out on 190 children from 1992 to 1996. Most patients were screened for large scale rearrangements and point mutations at nucleotide positions 3243, 3271, 8344, and 8993. RESULTS: Mutations were found in only 15 patients (7.9%) and were either large scale rearrangements (seven patients) or point mutations at nucleotide position 3243 (eight patients). Other point mutations were screened for depending on the clinical picture. The age of symptom onset was significantly older in children with an mtDNA mutation (mean 7.0 years) compared with children without a mutation (mean 2.8 years). Neither Leigh's syndrome (28 cases) nor severe infantile lactic acidosis (12 cases) was associated with mtDNA mutation. Only three clinical features were significantly associated with an mtDNA mutation: progressive external ophthalmoplegia, myopathy, and pigmentary retinopathy. Family history was valuable: the point mutation at nucleotide 3243 (but not the large scale rearrangements) was associated with maternal inheritance; and consanguinity was not associated with mtDNA mutations. The only investigation that provided specific evidence of an underlying mtDNA mutation was histochemical staining of muscle biopsy specimens. The large scale mutations associated with Kearns-Sayre syndrome and progressive external ophthalmoplegia were found in DNA from muscle only, not leucocyte DNA; whereas point mutations were found in leucocyte DNA. CONCLUSIONS: Even among children seen at a neurogenetic referral centre, mtDNA mutations were very uncommon. Muscle biopsy was the only investigation to provide evidence of mtDNA abnormality.     

V̇ max and nutritional status in Urban Colombian girls and women

Maximal oxygen consumption (V? max, liters min^?1) was measured in 60 nutritionally normal and 74 marginally undernourished girls 6–16 years of age and 27 upper socioeconomic (UEC) women and 22 women living in economically deprived conditions (LEC) in Cali, Colombia. All girls were recruited from the LEC neighborhoods. Lower values for V? max (liters min^?1) in undernourished girls were replaced by a nutritionally normal status in adulthood in which V? max was not significantly different from that measured in UEC women. Physical condition varied from average to fair in the younger to older subjects compared to women from industrialized countries. When V? max is expressed as ml min^?1 kg^?1 of lean body mass (LBM), all age and group effects disappear, confirming regression analysis which demonstrated a close relationship (r² = 0.81) between V? max (liters min^?1) and LBM in which there were no significant differences between nutritional or socioeconomic groups. © 1994 Wiley-Liss, Inc.     

Melioidosis—Rare or overlooked?

The world melioidosis conjures images of a rare, exotic disease meant only for large textbooks of pediatrics, to be read only to be forgotten or even to be ignored completely. The following two cases of melioidosis from India will surely serve as an eye opener.     

Children,the media,and the epistemic imperative of embodied vulnerability

Abstract

The world over, very young children are navigating the hazards of war, criminal activity, terrorism, torture, natural disasters, disease, hunger, and poverty. In media studies, the trends of the past decade or so have focused on children’s agency and empowerment—but many scholars of children tend to elide embodiment in their epistemological approaches. I argue in this essay that children inhabit what Ulrich Beck termed a “risk society”, and that they experience societal risks as embodied beings. Foregrounding children’s embodiment reorients us to the realities of the connections between the vulnerability of human embodiment and the precarious nature of social institutions. Using Beck’s theory of risk as a starting point, I offer a reparative reading of vulnerability as guiding us toward an activist program of research on corporeality and embodiment that needs to be taken up by children’s media scholars.     

Abnormal endothelial tight junctions in active lesions and normal-appearing white matter in multiple sclerosis

Blood-brain barrier (BBB) breakdown, demonstrable in vivo by enhanced MRI is characteristic of new and expanding inflammatory lesions in relapsing-remitting and chronic progressive multiple sclerosis (MS). Subtle leakage may also occur in primary progressive MS. However, the anatomical route(s) of BBB leakage have not been demonstrated. We investigated the possible involvement of interendothelial tight junctions (TJ) by examining the expression of TJ proteins (occludin and ZO-1 ) in blood vessels in active MS lesions from 8 cases of MS and in normal-appearing white (NAWM) matter from 6 cases. Blood vessels (10-50 per frozen section) were scanned using confocal laser scanning microscopy to acquire datasets for analysis. TJ abnormalities manifested as beading, interruption, absence or diffuse cytoplasmic localization of fluorescence, or separation of junctions (putative opening) were frequent (affecting 40% of vessels) in oil-red-O-positive active plaques but less frequent in NAWM (15%), and in normal (< 2%) and neurological controls (6%). Putatively "open" junctions were seen in vessels in active lesions and in microscopically inflamed vessels in NAWM. Dual fluorescence revealed abnormal TJs in vessels with pre-mortem serum protein leakage. Abnormal or open TJs, associated with inflammation may contribute to BBB leakage in enhancing MRI lesions and may also be involved in subtle leakage in non-enhancing focal and diffuse lesions in NAWM. BBB disruption due to tight junctional pathology should be regarded as a significant form of tissue injury in MS, alongside demyelination and axonopathy.