Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but they do not account for all cases. Here we identify an additional SRPS gene and further unravel the functional basis for IFT. We perform whole-exome sequencing and identify mutations in a new disease-producing gene, cytoplasmic dynein-2 light intermediate chain 1, DYNC2LI1, segregating with disease in three families. Using primary fibroblasts, we show that DYNC2LI1 is essential for dynein-2 complex stability and that mutations in DYNC2LI1 result in variable length, including hyperelongated, cilia, Hedgehog pathway impairment and ciliary IFT accumulations. The findings in this study expand our understanding of SRPS locus heterogeneity and demonstrate the importance of DYNC2LI1 in dynein-2 complex stability, cilium function, Hedgehog regulation and skeletogenesis

Application of Spectral Kurtosis to Characterize Amplitude Variability in Power Systems’ Harmonics

The highly-changing concept of Power Quality (PQ) needs to be continuously reformulated due to the new schemas of the power grid or Smart Grid (SG). In general, the spectral content is characterized by their averaged or extreme values. However, new PQ events may consist of large variations in amplitude that occur in a short time or small variations in amplitude that take place continuously. Thus, the former second-order techniques are not suitable to monitor the dynamics of the power spectrum. In this work, a strategy based on Spectral Kurtosis (SK) is introduced to detect frequency components with a constant amplitude trend, which accounts for amplitude values’ dispersion related to the mean value of that spectral component. SK has been proven to measure frequency components that follow a constant amplitude trend. Two practical real-life cases have been considered: electric current time-series from an arc furnace and the power grid voltage supply. Both cases confirm that the more concentrated the amplitude values are around the mean value, the lower the SK values are. All this confirms SK as an effective tool for evaluating frequency components with a constant amplitude trend, being able to provide information beyond maximum variation around the mean value and giving a progressive index of value dispersion around the mean amplitude value, for each frequency component

Promoting Functional Health in Midlife and Old Age: Long-Term Protective Effects of Control Beliefs, Social Support, and Physical Exercise

Previous studies have examined physical risk factors in relation to functional health, but less work has focused on the protective role of psychological and social factors. We examined the individual and joint protective contribution of control beliefs, social support and physical exercise to changes in functional health, beyond the influence of health status and physical risk factors in middle-aged and older adults. Given that functional health typically declines throughout adulthood, it is important to identify modifiable factors that can be implemented to maintain functioning, improve quality of life, and reduce disability.We conducted a national longitudinal study, Midlife in the United States (MIDUS), with assessments in 1995-1996 and 2004-2006, and 3,626 community-residing adults, aged 32 to 84, were included in the analyses. Functional health (Physical Functioning subscale of the SF-36) and protective factors were measured at both occasions. While controlling for socio-demographic, health status, and physical risk factors (large waist circumference, smoking, and alcohol or drug problems), a composite of the three protective variables (control beliefs, social support, and physical exercise) at Time 1 was significantly related to functional health change. The more of these factors at Time 1, the better the health maintenance over 10 years. Among middle-aged and older adults, declines in health were significantly reduced with an increased number of protective factors.Age-related declines in health were reduced among those with more protective factors up to a decade earlier in life. Modifiable psychological, social, and physical protective factors, individually and in the aggregate, are associated with maintenance of functional health, beyond the damaging effects of physical risk factors. The results are encouraging for the prospect of developing interventions to promote functional health and for reducing public health expenditures for physical disability in later life

Increasing Short-Stay Unplanned Hospital Admissions among Children in England; Time Trends Analysis '97-'06

BACKGROUND: Timely care by general practitioners in the community keeps children out of hospital and provides better continuity of care. Yet in the UK, access to primary care has diminished since 2004 when changes in general practitioners' contracts enabled them to 'opt out' of providing out-of-hours care and since then unplanned pediatric hospital admission rates have escalated, particularly through emergency departments. We hypothesised that any increase in isolated short stay admissions for childhood illness might reflect failure to manage these cases in the community over a 10 year period spanning these changes. METHODS AND FINDINGS: We conducted a population based time trends study of major causes of hospital admission in children 2 days. By 2006, 67.3% of all unplanned admissions were isolated short stays <2 days. The increases in admission rates were greater for common non-infectious than infectious causes of admissions. CONCLUSIONS: Short stay unplanned hospital admission rates in young children in England have increased substantially in recent years and are not accounted for by reductions in length of in-hospital stay. The majority are isolated short stay admissions for minor illness episodes that could be better managed by primary care in the community and may be evidence of a failure of primary care services

Books

Current Ocular Therapy. Ed. by F. T. Fraunfelder, F. Hampton Roy and S. Martha Meyer. Pp. xiii + 792. Illustrated. £55. Nonhmead: WB Saunders. 1989.Dysfunctional Uterine Bleeding and Menorrhagia. Bailliere's Clinical Obstetrics and Gynaecolcgy: International Practice and Research, June 1989. Ed. by J. O. Drife. Pp. 217 + 428. Illustrated. £18,50. Northmead: WE Saunders.1989.Treatment of Cancer. 2nd ed. Ed. by Karol Sikora and Keith E. Halnan. Pp. ix + 916. Illustrated. Price £99,50. London: Chapman and Hall Medical. 1990.Ocular Syndromes and Systemic Diseases. 2nd edition. Ed. by F. Hampton Roy. Pp. xlvii + 470. £40. Northmead: WE Saunders. 1989.Non-invasive Cardiac Imaging. British Medical Bulletin. Vol. 45, No. 4. Ed. by D. G. Gibson. Pp. 830 + 1109. Illustrated. £25 (UK) or £31,50 (overseas). New York: Churchill Livingstone. 1989.Laparoscopic Surgery. Bailliere's Clinical Obstetrics and Gynaecology: International Practice and Research, September 1989. Ed. by C. J. G. Sunon. Pp. 429 + 686. Illustrated. £18,50. Northmead: WB Saunders. 1989.Management ofMinor Head Injuries. Ed. by I. J. Swann and D. W. Yates. Pp. x + 102. Illustrated: £14,95. Hampshire: Chapman &amp; Hall Medical. 1989.ABC of Child Abuse. Ed. by Roy Meadow. Pp. 59. Illustrated. London: BMJ. 1989.The Facts of Life. Ed. by Marina Petropulos. Pp. 1 + 222. Illustrated. R19,95 exc!. GST. Cape Town: Tafelberg. 1990.Physical Examination of the Heart and Circulation. 2nd ed. Ed. by Joseph K. Perloff. Pp. viii + 292. Illustrated. £17,95. Northmead: WB Saunders. 1989.Growth Regulation of Thyroid Gland and Thyroid Tumours: Frontiers ofHormone Research. Vo!. 18. Ed. by P. E. Goretzki, and H. D. Roher. Pp. viii + 163. Illustrated. £68,80. Basel: S. Karger. 1989.Topical Diagnosis in Neurology: Anatomy, Physiology, Signs, Symptoms. 2nd revised ed. Ed. by P. Duus. Pp. x + 337. Illustrated. DM 370. Stungart: Georg Thieme Verlag. 1989

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed

Giant serous cystadenoma arising from an accessory ovary in a morbidly obese 11-year-old girl: a case report

<p>Abstract</p> <p>Introduction</p> <p>Ectopic ovarian tissue is an unusual entity, especially if it is an isolated finding thought to be of embryological origin.</p> <p>Case presentation</p> <p>An 11-year-old, morbidly obese female presented with left flank pain, nausea, and irregular menses. Various diagnostic procedures suggested a large ovarian cyst, and surgical resection was performed.</p> <p>Conclusion</p> <p>Histologically, the resected mass was not of tubal origin as suspected, but a serous cystadenoma arising from ovarian tissue. The patient's two normal, eutopic ovaries were completely uninvolved and unaffected. A tumor arising from ectopic ovarian tissue of embryological origin seems the most likely explanation. We suggest refining the descriptive nomenclature so as to more precisely characterize the various presentations of ovarian ectopia.</p