Intermittent hypoxia alters dose dependent caffeine effects on renal prostanoids and receptors in neonatal rats.

Caffeine, one of the most commonly prescribed drugs in preterm neonates, is given in standard or suprapharmacologic doses. Although known as a diuretic, its effects in the neonatal kidneys are not well studied. We tested the hypothesis that neonatal intermittent hypoxia (IH) and high caffeine doses (HCD) alter renal regulators of vasomotor tone and water balance. Newborn rats were randomized to room air, hyperoxia, or IH and treated with standard or high caffeine doses; or placebo saline. Renal prostanoids; histopathology; and cyclooxygenase (COX), prostanoid receptor, and aquaporin (AQP) immunoreactivity were determined. HCD in IH caused severe pathological changes in the glomeruli and proximal tubules, consistent with acute kidney injury. This was associated with reductions in anthropometric growth, PGI2, and IP, DP, and AQP-4 immunoreactivity, well as a robust increase in COX-2, suggesting that the use of HCD should be avoided in preterm infants who experience frequent IH episodes.

Attitudes towards Donor Breast Milk in an Inner City Population.

Objective. The purpose of our study was to identify attitudes towards donor breast milk in our population and identify barriers to its acceptance. Methods. The study sample was comprised of a convenience sample of 174 postpartum women. A questionnaire consisting of demographic information and 12 questions relating to attitudes and understanding of donor breast milk was administered. Results. Among the mothers surveyed, 34% were aware of the use of donor breast milk and donor milk banks. 62% of mothers preferred the use of formula compared to donor breast milk if they were unable to provide their own breast milk. Educational level did play a role with 64% of mothers with education beyond high school believing that donor breast milk was beneficial for newborns as opposed to 46% with a high school education or less (p=0.02). US born mothers were more likely to have heard about donor breast milk (47% versus 29%, p=0.025) than foreign born mothers although they were less likely to believe it was a better option for feeding than formula (22.7% versus 43%, p=.016). Mothers with infants in the NICU were more likely than mothers of well babies to accept milk from a milk bank rather than a relative or friend (81% versus 39%, p≤0.001). Conclusion. Although the beneficial effects of donor breast milk are well established in the scientific community, there remains a lack of awareness and a major discrepancy in the understanding and acceptance of it within our community. Education on the benefits of mother's own milk as well as donor breast milk and milk banks is an important public health initiative needed to increase acceptance of human milk as the optimal form of nutrition in infants.

A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS.

While an established protocol exists for diagnosing individuals with the fragile X-associated tremor/ataxia syndrome (FXTAS), a quantitative measure of tremor and ataxia is needed. Using the CATSYS system to quantify movement abnormalities, we were able to record tremor, postural sway, manual (hand and finger) coordination, and reaction time in males with the FMR1 premutation, both with and without FXTAS, and compare them to controls. We evaluated 16 males diagnosed with FXTAS, 16 males with the premutation without FXTAS (non-FXTAS), and 14 age-matched controls. The CATSYS system detected, in the dominant hand, a difference in intention tremor between the FXTAS group and controls (P = 0.0008). The 30-sec postural sway tasks revealed differences between the FXTAS group and controls, both with eyes open and closed (P = 0.0004 and P = 0.0031, respectively). There was also a difference between FXTAS and non-FXTAS 30-sec postural sway performances with eyes open (P = 0.0008). The 10-sec postural sway tasks (with eyes closed) served to confirm the differences between the FXTAS group and both the controls (P = 0.0017) and non-FXTAS premutation carriers (P = 0.0016). These results demonstrate that the quantitative measures of the CATSYS system can document significant differences in intention tremor and postural sway in patients with FXTAS compared to controls.

Development of Localized Pulmonary Interstitial Emphysema in a Late Preterm Infant without Mechanical Ventilation.

Pulmonary interstitial emphysema (PIE) is not an uncommon finding in premature infants with respiratory distress who need respiratory support by mechanical ventilation. PIE has been reported in a few cases of neonates in whom either no treatment other than room air was given or they were given continuous positive end-expiratory pressure (CPAP) support. We present a case of a premature neonate who presented with respiratory distress, in whom PIE and spontaneous pneumothorax (PTX) developed while on CPAP therapy only. The patient was treated conservatively with subsequent resolution of the radiological findings and clinical improvement. No surgical intervention was required. It is important to know that PIE may develop independently of mechanical ventilation. We would like to add this case to the literature and describe the pertinent plain film and computed tomography (CT) findings of this entity, the possible mechanism of development, and the differential diagnosis. A review of the literature is also provided.

Abnormal nerve conduction features in fragile X premutation carriers.

BACKGROUND: Distal neuropathy is part of the clinical phenotype in most males with the fragile X-associated tremor/ataxia syndrome (FXTAS) caused by the 55 to 200 CGG repeat expansion. METHODS: We performed nerve conduction studies in 16 male carriers with FXTAS, 11 non-FXTAS carriers, and 11 control subjects and assessed the outcomes with respect to the fragile X mental retardation 1 genotype (FMR1) (Online Mendelian Inheritance in Man [OMIM] 309550; NT011681) and messenger RNA expression. RESULTS: Men with FXTAS had slower tibial nerve conduction velocities and prolonged F-wave latencies compared with controls (z = 2.06, P = .04; and z = 2.73, P = .005) and unaffected premutation males (z = 1.98, P = .04; and z = 2.00, P = .04). Compound muscle action potential amplitudes were smaller in the FXTAS group relative to controls. Sural nerve action potential amplitudes were reduced in the FXTAS group compared with controls. After controlling for age, there was a significant relationship between the longer CGG repeat number and tibial nerve conduction velocity slowing (r = -0.42, P = .04) and between elevated messenger RNA levels and reduction of the tibial compound muscle action potential velocity (r = -0.52, P = .01) in the permutation group. CONCLUSIONS: Male premutation carriers had significant conduction abnormalities of motor and sensory nerves that correlated with molecular measures, suggesting that the premutation FMR1 genotype is a causal factor. There was also evidence of nerve conduction abnormalities in non-FXTAS carriers compared with controls, which suggests that the neuropathy can occur without the full clinical presentation of FXTAS.

Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome.

Peripheral neuropathy is common among patients with fragile X-associated tremor ataxia syndrome (FXTAS). Four patients with FXTAS are described with neuropathy as the presenting feature, two having received a prior diagnosis of Charcot-Marie-Tooth (CMT) disease. A fifth is described with neuropathy as the only clinical feature. A functional connection between FXTAS and neuropathy has been suggested by the presence of lamin A/C in the intranuclear, neuronal and astrocytic inclusions of FXTAS, since mutations in lamin A/C are known to give rise to an axonal form of CMT.