The Neuromusculoskeletal Modeling Pipeline: MATLAB-based Model Personalization and Treatment Optimization Functionality for OpenSim.

Neuromusculoskeletal injuries including osteoarthritis, stroke, spinal cord injury, and traumatic brain injury affect roughly 19% of the U.S. adult population.

Congenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imaging.

Purpose: To describe the neuroanatomical correlates of unilateral congenital isolated oculomotor palsy by means of high-resolution MRI.

Methods: Children with a clinical diagnosis of congenital isolated oculomotr palsy and with a high-resolution MRI acquisition targeted on the orbits and cranial nerves were selected and included in the study. An experienced pediatric neuroradiologist evaluated all the exams, assessing the integrity and morphology of extraocular muscles, oculomotor, trochlear and abducens nerves as well as optic nerves and globes.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM.

Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich's Ataxia.

The identification of efficient markers of disease progression and response to possibly effective treatments is a key priority for slowly progressive, rare and neurodegenerative diseases, such as Friedreich's ataxia. Various imaging modalities have documented specific abnormalities in Friedreich's ataxia that could be tracked to provide useful indicators of efficacy in clinical trials. Advanced MRI imaging (diffusion tensor imaging, DTI; functional MRI, fMRI; and resting-state fMRI, rs-fMRI) and retinal imaging (optical coherence tomography, OCT) were tested longitudinally in a small group of Friedreich's ataxia patients participating in an open-label clinical trial testing the safety and the efficacy of 6-month treatment with interferon gamma.

Accurate and sensitive diagnosis of geminiviruses through enrichment, high-throughput sequencing and automated sequence identification.

Existing diagnostic techniques used to identify plant-infecting DNA viruses and their associated molecules are often limited in their specificity and can be challenged by samples containing multiple viruses. We adapted a simple method of amplifying circular viral DNA and, in combination with high-throughput sequencing and bioinformatic analysis, used it as a virus diagnostic method. We validated this diagnostic method with a plant sample infected with a tomato yellow leaf curl geminivirus infectious clone and also compared PCR- and high-throughput-sequencing diagnostics on a geminivirus-infected field sample, showing that both methods gave similar results.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

Cone dystrophy with supernormal rod response (CDSRR) is considered to be a very rare autosomal recessive retinal disorder. CDSRR is associated with mutations in KCNV2, a gene that encodes a modulatory subunit (Kv8.2) of a voltage-gated potassium channel.

First Report of Tomato yellow leaf curl virus Infecting Tomato, Tomatillo, and Peppers in Guatemala.

In Guatemala and other Central American countries, whitefly-transmitted geminiviruses (begomoviruses) cause economically important diseases of tomato (Solanum lycopersicum) and pepper (Capsicum annuum). Disease symptoms include stunted and distorted growth and leaf curling, crumpling, light green to yellow mosaic, purpling, and vein swelling. In Guatemala, at least eight bipartite begomovirus species infect tomato or peppers (1), but their role and relative importance is unclear.

Tomato yellow leaf curl virus in the Dominican Republic: Characterization of an Infectious Clone, Virus Monitoring in Whiteflies, and Identification of Reservoir Hosts.

ABSTRACT Epidemics of tomato yellow leaf curl disease (TYLCD) in the Dominican Republic in the early to mid-1990s resulted in catastrophic losses to processing tomato production. As part of an integrated management approach to TYLCD, the complete nucleotide sequence of a full-length infectious clone of an isolate of Tomato yellow leaf curl virus (TYLCV) from the Dominican Republic (TYLCV-[DO]) was determined. The TYLCV-[DO] genome was nearly identical in sequence (>97%) and genome organization to TYLCV isolates from Israel and Cuba.

Changes in the optic disc excavation of children affected by cerebral visual impairment: a tomographic analysis.

Purpose: To obtain quantitative data on the optic disc excavation in children affected by cerebral visual impairment (CVI) by using the Heidelberg Retinal Tomograph (HRT)-II (Heidelberg Engineering, Heidelberg, Germany).

Methods: A total of 24 subjects affected by CVI (mean age, 7.28 years) were examined: 16 in alert conditions and 8 under general anesthesia.

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

Mutations in the brain-specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine type 1 (FHM1). SCA6 is associated with small expansions of a CAG repeat at the 3' end of the gene, while point mutations are mostly responsible for its two allelic disorders, FHMI and EA2. From the electrophysiological point of view, while FHMI mutations lead to a gain of function [Tottene A, Fellin T, Pagnutti S, Luvisetto S, Striessnig J, Fletcher C, et al.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder.

Oculomotor dysfunction in cerebral visual impairment following perinatal hypoxia.

The aim of the study was to describe ocular motility in a sample of 56 patients affected by cerebral visual impairment (CVI) of hypoxic-ischemic origin. The sample consisted of 56 participants (37 males and 19 females), ranging in age from 2 to 16 years. In all cases CVI was associated with MRI-verified damage of the cerebral visual system.

Functional analysis of proteins involved in movement of the monopartite begomovirus, Tomato yellow leaf curl virus.

The functional properties of proteins [capsid protein (CP), V1, and C4] potentially involved with movement of the monopartite begomovirus, Tomato yellow leaf curl virus (TYLCV), were investigated using microinjection of Escherichia coli expressed proteins and transient expression of GFP fusion proteins. The TYLCV CP localized to the nucleus and nucleolus and acted as a nuclear shuttle, facilitating import and export of DNA. Thus, the CP serves as the functional homolog of the bipartite begomovirus BV1.

CNGA3 mutations in hereditary cone photoreceptor disorders.

We recently showed that mutations in the CNGA3 gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone photoreceptor disorders. CNGA3 mutations were detected not only in patients with the complete form of achromatopsia but also in incomplete achromats with residual cone photoreceptor function and (rarely) in patients with evidence for severe progressive cone dystrophy.

Checklist for the evaluation of low vision in uncooperative patients.

Purpose: To present a checklist for the evaluation of low vision in uncooperative patients; in this specific case, children with neurological deficits.

Method: The checklist includes several behavioral indicators obtainable with a standard clinical examination. Each test is assigned a score (0=failure, 1=success).

Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS) is a hereditary autosomal-recessive disorder, characterized by mental retardation, obesity, pigmentary retinopathy, polydactyly and, only in males, hypogenitalism. Even though genetic studies have revealed five different forms of BBS correlated to distinct loci on different chromosomes, a diagnosis of BBS is still primarily based on clinical data. The present study discusses the evolution of clinical ophthalmological and electrophysiological characteristics of BBS patients in developmental age.

Cerebral visual impairment in periventricular leukomalacia.

Infants with cerebral palsy (CP) frequently present cerebral visual impairment (CVI) often caused by damage to retrochiasmatic pathways. This is particularly true of subjects with damage to the periventricular white matter. Thirty-eight preterm infants with periventricular leukomalacia (PVL) diagnosed by MRI were examined to correlate binocular visual acuity with neuroradiological findings.

Transient nystagmus in delayed visual maturation.

Two infants who presented with wide-amplitude and high-frequency nystagmus and lack of visual awareness in the first 3 months of life were studied. No ocular abnormalities were found. Neurodevelopmental examination, visual evoked potentials and electroretinograms were normal.

Electronystagmographic investigation in X-linked ocular albinism.

Albinism represents the most frequent cause of nystagmus induced by visual sensory disorders. We studied five patients aged between three and five years with ocular albinism with the aim of identifying the characteristics of nystagmic oscillations. The patients underwent complete ophthalmological examination and electronystagmography (ENG).

A pigmented free-floating vitreous cyst in a six-year-old child.

We observed a unilateral free-floating vitreous cyst in a 6-year-old boy. The ophthalmologic examination was otherwise normal. The cyst, which was pigmented, had a diameter of approximately 2.

Esotropia and pseudoexotropia in acute ROP sequelae: clinical features and suggestions for treatment.

We report five cases with a mixture of esotropia and pseudoexotropia due to macular ectopia related cicatricial retinopathy of prematurity (ROP). On inspection, the patients, aged from 9 to 28 years, presented a divergence of the eyes and a nasally decentralised corneal light reflex. The cover test showed esodeviation.

Review of experience with retinopathy of prematurity from the Pavia registry (1990-1993).

In this retrospective study we analysed the prevalence of retino-pathy of prematurity (ROP) and its sequelae in a sample of premature infants with birth weight less than 1500 grams. From 1 January 1990 to 31 October 1993, we studied 160 surviving premature infants with very low birth weight (< 1.500 g) referred to the Neonatal Intensive Care Unit of the I.

Brown's syndrome associated with Smith-Magenis syndrome: Case report.

Brown's syndrome is generally an isolated clinical condition. The authors observed a girl with a right Brown's syndrome and a rare condition due to an interstitial deletion of chromosome 17, known as Smith-Magenis syndrome. A wide spectrum of congenital disorders have been reported in Smith-Magenis syndrome, but never Brown's syndrome.