Intelligent Wireless Sensor Network using Low Space free space optical communication sensor networks

The free space optical communication sensor networks (FSOSN) have shown impending, for very low power, energy aware applications. They aptitude increasing node functionality, lower energy consumption, lower cost and smaller sizes. However, the new wireless sensor network architecture yields new challenges. FSO can be explained by the means to the transmission of modulated visible or infrared (IR) beams through the atmosphere to obtain broadband communications over distances of several kilometers. The main constraint of FSO is the requirement that a direct line-of-sight (LOS) path exist between two parties the sender and a receiver. However FSO networks offer several unique advantages over RF networks. The fact that include by FSO that it avoids interference with existing RF communications infrastructure is competitively deployed since there is no government licensing of scarce spectrum required, is not susceptible to ?jamming? attacks, and provides a convenient bridge between the sensor network and the nearest optical fiber. The main aim of this research is to develop a low power free space optical communication based intelligent wireless sensor network on 8-bit microcontroller which enables integration of existing devices easily using off the shelf components

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous system and rarely by multisystem involvement. Next-generation sequencing discovered that multiple genes are associated with this disorder. FKTN is the rarest cause of WWS. We describe a clinical-autopsy report of a molecularly- confirmed WWS case presenting with ventriculomegaly, agenesis of the corpus callosum with a novel phenotype of Dandy-Walker malformation and unilateral multi-cystic kidney. The whole-exome sequencing confirmed a homozygous variant (c.411C>A) in the FKTN gene with a premature termination codon. This case emphasizes the importance of detailed postnatal phenotyping through an autopsy in any pregnancy with antenatally identified malformations. Obstetricians, pediatricians as well as fetal medicine experts need to counsel the parents and focus on preserving the appropriate sample for genetic testing. WWS, though rare deserves testing especially in the presence of positive family history. Dandy-Walker malformation is a novel feature and expands the phenotypic spectrum

Parental views on informed consent for expanded newborn screening

Background  An increasing array of rare inherited conditions can be detected as part of the universal newborn screening programme. The introduction and evaluation of these service developments require consideration of the ethical issues involved and appropriate mechanisms for informing parents and gaining consent if required. Exploration of parental views is needed to inform the debate and specifically consider whether more flexible protocols are needed to fit with the public perception of new developments in this context. Objective  This study has been undertaken to explore perceptions and attitudes of parents and future parents to an expanded newborn screening programme in the United Kingdom and the necessary information provision and consent processes. Design and participants  A mixed methods study involving focus groups (n = 29) and a web‐survey (n = 142) undertaken with parents and future parents. Results and conclusions  Parents want guaranteed information provision with clear decision‐making powers and an awareness of the choices available to them. The difference between existing screening provision and expanded screening was not considered to be significant enough by participants to warrant formal written, informed consent for expanded screening. It is argued that the ethical review processes need to be more flexible towards the provision of information and consent processes for service developments in newborn screening

Using record linkage to investigate perinatal factors and neonatal thyroid-stimulating hormone

Context: Studies examining the relationship between maternal and infant thyroid parameters have shown conflicting results. Record-linkage provides an opportunity to examine the association between maternal and infant thyroid stimulating hormone (TSH) levels. Objective: To demonstrate the feasibility of record-linkage of newborn screening, laboratory, and birth databases for research by investigating the association between maternal and newborn TSH levels. Design: Record-linkage cohort study Setting and Participants: The records of 2,802 women with first trimester serum TSH concentrations were linked with population-based birth data and newborn screening data (NBS) containing infant TSH levels. Association between moderately high neonatal TSH levels (>5mlU/L) and maternal and infant characteristics were evaluated. The correlation and association between maternal and infant TSH levels were assessed using Pearson’s correlation coefficient and multivariable linear regression, respectively. Results: 99.3% of maternal and birth records linked with a NBS record. Mother’s country of birth, gestational age (>41 weeks) and lower birth weight were associated with neonatal TSH levels >5mlU/L. Neonatal and maternal first-trimester TSH levels were not correlated, although statistically significant (r=0.05, P=0.008). The association between neonatal TSH and maternal TSH, after adjusting for maternal age, gestational age and age at NBS testing, was also small ( =0.039, P=0.009). Conclusions: Record-linkage is a feasible and cost-efficient way to investigate the association between maternal factors and neonatal hormone levels. First trimester maternal thyroid levels are not correlated with neonatal TSH levels. This method of outcome assessment can be used for future research examining long term outcomes for infants with different newborn screening results.Funding: This work was supported by a National Health and Medical Research Council (NHMRC) Project Grant (#1050688). SJL is supported by a NHMRC Early Career Research Fellowship (#1054751), CLR is supported by a NHMRC Senior Research Fellowship (#1021025) and NN by a NHMRC Career Development Fellowship (#1067066)

Diagnosis and management of glutaric aciduria type I – revised recommendations

Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan. This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

peer reviewedMany countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS. © 2021 The Author