Case Report: Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases

We report a family having two male sibs with Simpson–Golabi–Behmel syndrome (SGBS). Both have many typical features of the syndrome. These features included macrocephaly, macroglossia, post axial polydactyl of the left hand, bilateral low insertion of the thumb, multiple accessory nipples, hepatomegaly, and congenital heart. The patients have bilateral anterior helical ear pits, and characteristic posterior ear lobule creases. The older one has severe mental retardation and died at the age of 13 months with bronchopneumonia, and the younger one is 7 months old with normal mentality. The mother looks broad, stocky, and tall.Keywords: Simpson–Golabi–Behmel syndrome; Over growth syndromes; Glypican (GPC) 3; Polydactyly; Macroglossia; Accessory nipple

Case Report: Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome

Background: Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs.Case report: A 26 month old male child, the product of healthy nonconsanguineous parents has many typical features of Miller syndrome. He has cleft lip and palate, malar hypoplasia, left crumpled cup shaped ear, and prominent nose together with the absence of the fifth ray in feet (postaxial) and fixation of interphalangeal joints of both thumbs (preaxial). However the limb affection is bilateral and symmetrical against what is usually reported (bilateral with more affection of one side) and the micrognathia is very mild. Our patient has also bilateral corneal opacities as well as underdeveloped external genitals.Conclusion: There is phenotypic variability in Miller syndrome, and our patient may represent a new distinct subgroup in postaxial acrofacial dysostosis.Keywords: Miller syndrome; Gene´e–Weidemann syndrome; Postaxial acrofacial dysostosis syndrome; Corneal opacit

Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi

We report a 2 months old boy, the first in order of birth of  non-consanguineous parents, with several typical features of oral-facial-digital syndrome type II (OFDS II) including cleft lip, high arched palate,  retromicrognathia, preaxial polysyndactyly of hands and feet, duplication ofthumb and hallux. Interestingly, the patient also had mesoaxial polydactyly of the left hand with extra metacarpal bones characteristic of OFDS. VI, however mentality and MRI brain were normal. This unusual association may suggest an additional subgroup of OFDSs or a variant of OFDS II due to variable gene expression or a transitional type between OFDS II and OFDS VI

Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectrum

Abstract Peters anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs involving the central or entire cornea. It may be associated with other ocular or systemic abnormalities. Peters Plus syndrome, also known as Krause–Kivlin syndrome, characterized by additional anomalies including short stature with developmental delay, facial dysmorphism, genitourinary abnormalities; syndactyly; brachycephaly; and cardiac, neural, and hearing abnormalities. Here we report an 8 month old boy with typical features of Peters Plus syndrome including eye anomalies, dysmorphic features, global developmental delay, growth retardation, bilateral talipes equinovarus, complex renal anomalies, absent anal canal, sacral agenesis and sensorineural hearing loss. To our knowledge, the last three features were not reported beforeKeywords: Peters anomaly; Corneal opacity; Absent anal canal; Deafnes

Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin patches

A female, 26 months old with features supporting the diagnosis of neonatal progeroid syndrome was presented. She had prenatal and postnatal growth failure, generalized lipoatrophy except for fat pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair and eyebrows, prominent scalp veins, greatly widened anterior fontanels, and moderate mental retardation. The patient had also some features not reported previously as premature loss of milk teeth, large mouth, atrophic gums, protruded lower jaw, and café aulait skin patches on lower limbs. Nail dystrophy was also detected. She had local depression of the left parietal bone on CT brain, white matter demyelination in MRI brain, and high level of cholesterol.Keywords: The neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome; Premature aging; Milk teeth; Nail dystrophy; Café au lait skin patche

Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities

We report a 4 month old female infant with the typical features of Cornelia-de Lange syndrome. What was striking in our patient was the presence of skeletal anomalies not reported previously. These included arachnodactly of both fingers and toes, flexion of thumbs at metacarpophalengeal joints, bilateral short big toes, angulation of the lower part of the bones of right forearm and both legs with multiple skin folds. Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive. The patient died at the age of 5 months with bronchopneumoniaand gastroenteritis

Using EMG to deliver lumbar dynamic electrical stimulation to facilitate cortico-spinal excitability

Background: Potentiation of synaptic activity in spinal networks is reflected in the magnitude of modulation of motor responses evoked by spinal and cortical input. After spinal cord injury, motor evoked responses can be facilitated by pairing cortical and peripheral nerve stimuli. Objective: To facilitate synaptic potentiation of cortico-spinal input with epidural electrical stimulation, we designed a novel neuromodulation method called dynamic stimulation (DS), using patterns derived from hind limb EMG signal during stepping. Methods: DS was applied dorsally to the lumbar enlargement through a high-density epidural array composed of independent platinum-based micro-electrodes. Results: In fully anesthetized intact adult rats, at the interface array/spinal cord, the temporal and spatial features of DS neuromodulation affected the entire lumbosacral network, particularly the most rostral and caudal segments covered by the array. DS induced a transient (at least 1 min) increase in spinal cord excitability and, compared to tonic stimulation, generated a more robust potentiation of the motor output evoked by single pulses applied to the spinal cord. When sub-threshold pulses were selectively applied to a cortical motor area, EMG responses from the contralateral leg were facilitated by the delivery of DS to the lumbosacral cord. Finally, based on motor-evoked responses, DS was linked to a greater amplitude of motor output shortly after a calibrated spinal cord contusion. Conclusion: Compared to traditional tonic waveforms, DS amplifies both spinal and cortico-spinal input aimed at spinal networks, thus significantly increasing the potential and accelerating the rate of functional recovery after a severe spinal lesion

Accretion Processes for General Spherically Symmetric Compact Objects

We investigate the accretion process for different spherically symmetric space-time geometries for a static fluid. We analyse this procedure using the most general black hole metric ansatz. After that, we examine the accretion process for specific spherically symmetric metrics obtaining the velocity of the sound during the process and the critical speed of the flow of the fluid around the black hole. In addition, we study the behaviour of the rate of change of the mass for each chosen metric for a barotropic fluid.Comment: 10 pages, 15 figures, v2 accepted for publication in 'European Physical Journal C

Tidal Forces in Reissner-Nordström Spacetimes

We analyze the tidal forces produced in the spacetime of Reissner-Nordstr\"om black holes. We point out that the radial component of the tidal force changes sign just outside the event horizon if the charge-to-mass ratio is close to $1$ unlike in Schwarzschild spacetime of uncharged black holes, and that the angular component changes sign between the outer and inner horizons. We solve the geodesic deviation equations for radially falling bodies towards the charged black hole. We find, for example, that the radial component of the geodesic deviation vector starts decreasing inside the event horizon unlike in the Schwarzschild case

Integrative Genomics Viewer

Author Manuscript 2012 May 07.To the Editor: Rapid improvements in sequencing and array-based platforms are resulting in a flood of diverse genome-wide data, including data from exome and whole-genome sequencing, epigenetic surveys, expression profiling of coding and noncoding RNAs, single nucleotide polymorphism (SNP) and copy number profiling, and functional assays. Analysis of these large, diverse data sets holds the promise of a more comprehensive understanding of the genome and its relation to human disease. Experienced and knowledgeable human review is an essential component of this process, complementing computational approaches. This calls for efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data. However, the sheer volume and scope of data pose a significant challenge to the development of such tools.National Institute of General Medical Sciences (U.S.) (R01GM074024)National Cancer Institute (U.S.) (R21CA135827)National Human Genome Research Institute (U.S.) (U54HG003067