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Biomedical subjects

Michael W Beresford

Publications and source records attributed to Michael W Beresford.

8 recordsLinked to original sources
PubMed2006

So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.

Late-onset glutaric aciduria type II (GAII) is a rare but treatable cause of profound proximal myopathy. GAII is caused by defects in intra-mitochondrial acyl-CoA dehydrogenation due to deficiency in one of three molecules: the alpha or beta subunits of the electron transport flavoprotein (ETFA; OMIM 231680, ETFB; OMIM 130410), or ETF-dehydrogenase (ETFDH; OMIM 231675). This case report illustrates that GAII may present in the teenage years and may not be associated with hypoglycaemia. It outlines some important diagnostic conundrums faced in diagnosing and managing juvenile onset myopathies. Mutational analysis from this patient revealed two mutations of the ETF-DH gene: EFTDH-334C>T/His122Tyr and EFTDH-1366C>A/Pro456Thr (OMIM 231675). An outline of this rare but important disease, its clinical characteristics and diagnostic methodology are given.

Acyl-CoA Dehydrogenase↗
PubMed2006

Adolescent development and SLE.

Adolescence is a time of profound biological and psychosocial change. The management of a complex chronic condition such as systemic lupus erythematosus (SLE) during this period is a challenging but rewarding task for the clinician. Early diagnosis and optimal disease control is essential in order to facilitate normal adolescent development and minimize long-term disease sequelae. Current treatment regimens are associated with significant toxicity in young people, and there is a need for new, less toxic regimens. There are currently no controlled therapeutic studies in adolescents with SLE. Those involved in the care of these young people must ensure that they have appropriate access to specialist medical services while ensuring that their specific needs as adolescents in the health-care system are addressed.

Adolescent↗
PubMed2005

Twelve-month prospective study of oxygen saturation measurements among term and preterm infants.

BACKGROUND: Optimising home oxygen delivery in infants has important logistical and safety implications. This can be aided by having a suitable reference range of normal values for arterial oxygen saturation using pulse oximetry (SpO(2)). OBJECTIVES: To describe oxygenation profiles in healthy preterm and term infants in relation to gestational and postnatal age, to extend reference values to guide home oxygen therapy. STUDY DESIGN: Prospective monitoring of SpO(2) for 4 hours at 3 monthly intervals of 34 term, and 53 preterm healthy infants, took place over a 12-month period using an Ohmeda Biox 3700e pulse oximeter and data logger. RESULTS: Group mean and 5th percentiles were used to construct cumulative frequency curves at each time interval, representing the normal reference range of SpO(2) profiles for term and preterm infants over time. CONCLUSIONS: These data may be used to test the benefits in the home or hospital of having a reference range of normal values for cumulative SpO(2).

Age Factors↗
PubMed2003

Bronchoalveolar lavage surfactant protein a, B, and d concentrations in preterm infants ventilated for respiratory distress syndrome receiving natural and synthetic surfactants.

Surfactant proteins (SPs) play an important role in surfactant metabolism and function. Understanding their relative contribution to clinical outcome remains incomplete. Exogenous surfactants differ in their SP content and physiologic effects. The aims of this study were to measure bronchoalveolar lavage (BAL) SP concentrations from preterm infants ventilated for respiratory distress syndrome and to assess their association with clinical outcome. Fifty preterm infants randomized to receive a natural or synthetic surfactant were lavaged each day for the first week and twice weekly thereafter using a standardized nonbronchoscopic technique. BAL SP-A, SP-B, and SP-D concentrations were measured using ELISA. Median BAL SP-A, SP-B, and SP-D concentrations for the whole cohort rose significantly during the first postnatal week (p < 0.05). SP-A concentration did not differ between outcome groups. BAL SP-B concentration rose significantly in lungs that were not supplemented with SP-B. Infants dying had significantly lower BAL SP-B concentrations on d 2 and 6 compared with survivors. BAL SP-D concentrations were significantly lower on d 2 and 3 among infants in supplemental oxygen on d 28 compared with those in air. BAL SP-A and SP-D concentrations did not differ significantly between infants randomized to receive a natural or synthetic surfactant. Lower BAL SP-B and SP-D but not SP-A concentrations were associated with worse clinical prognosis.

Bronchoalveolar Lavage Fluid↗
PubMed2002

Detectable IL-8 and IL-10 in bronchoalveolar lavage fluid from preterm infants ventilated for respiratory distress syndrome.

Pro-inflammatory cytokines such as IL-8 play an important role in the inflammatory response to neonatal airway injury. Difficulty in detecting counter-regulatory cytokines such as IL-10 in lavage fluid from preterm infants led to the suggestion that its deficit may be a factor in the etiology of chronic lung disease of prematurity (CLD). The aim of the study was to determine IL-8 and IL-10 concentrations in lavage fluid from preterm infants ventilated for respiratory distress syndrome. Fifty infants <30 wk gestation were studied who had been randomized to receive a natural or synthetic surfactant. Lavage samples were collected daily for the first week and twice weekly thereafter. Samples were immediately centrifuged and stored at -70 degrees C. Cytokine concentrations were quantified in duplicate using commercially available sandwich ELISA kits. Lavage IL-10 concentration, at a minimum initially, rose significant over the first five postnatal days (p = 0.009). In the same samples, lavage IL-8 concentrations rose significantly over the first postnatal week (p < 0.001), the rise preceding that of IL-10. Infants dying or developing CLD had a significant early rise in both cytokine concentrations. Compared with infants developing CLD, lavage IL-10 concentrations were significantly higher on d 1 among those not developing CLD but significantly lower on d 4 (p < 0.05). To conclude, IL-10 is detectable in lavage fluid from ventilated preterm infants and its concentrations rise significantly over the first five postnatal days. In the same samples, IL-8 concentration also rises and this increase precedes the rise in IL-10.

Bronchoalveolar Lavage Fluid↗