PubMed Journals Articles About "Pedigree Analysis Familial Primary Concomitant Horizontal Strabismus Northern" RSS

05:54 EST 19th January 2019 | BioPortfolio

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Showing "Pedigree Analysis Familial Primary Concomitant Horizontal Strabismus Northern" PubMed Articles 1–25 of 38,000+

Postoperative Stereopsis in Adult Patients With Horizontal Comitant Strabismus With Normal Vision Who Are Stereoblind.

To examine stereopsis in patients with comitant horizontal strabismus who had normal vision and were stereoblind following the strabismus surgery.

One-Muscle Strabismus Surgery: A Review.

Proper management of a patient with small to moderate horizontal deviations continues to be challenging for the strabismus surgeon. The use of one-muscle surgery for comitant strabismus has been controversial because of concerns that it may result in a significant number of undercorrections and/or ocular incomitance. Recent literature on unilateral rectus muscle surgery has shown that this surgery is a safe and effective procedure for small and moderate angle horizontal deviations. It has the advantage of l...

Primary Localized Cutaneous Amyloidosis Affecting Female Individuals of a Pakistani Pedigree.

Primary localized cutaneous amyloidosis is a group of rare conditions where amyloid deposition is limited to the skin without systemic manifestations. Most cases are sporadic; however, mutations in the oncostatin M receptor (OSMR) and interleukin-31 receptor A (IL31RA) genes can cause a familial form of the condition in up to 10% of cases. Here, we describe a family in which 8 female individuals are affected by either macular amyloidosis or amyloidosis cutis dyschromica. To the best of our knowledge, a sex-...

Changes in refractive error and axial length after horizontal muscle surgery for strabismus.

To investigate changes in refractive error following horizontal muscle surgery and to analyze the relationship between these changes and axial length.

Optic Nerve Sheath Tethering in Adduction Occurs in Esotropia and Hypertropia, But Not in Exotropia.

Repetitive strain to the optic nerve (ON) due to tethering in adduction has been recently proposed as an intraocular pressure-independent mechanism of optic neuropathy in primary open-angle glaucoma. Since strabismus may alter adduction, we investigated whether gaze-related ON straightening and associated globe translation differ in horizontal and vertical strabismus.

Comparative assessment of different familial aggregation methods in the context of large and unstructured pedigrees.

Familial aggregation analysis is an important early step for characterizing the genetic determinants of phenotypes in epidemiological studies. To facilitate this analysis, a collection of methods to detect familial aggregation in large pedigrees has been made available recently. However, efficacy of these methods in real world scenarios remains largely unknown. Here, we assess the performance of five aggregation methods to identify individuals or groups of related individuals affected by a Mendelian trait w...

Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province.

To identify the disease-causing mutations in a pedigree with familial hypertrophic cardiomyopathy (HCM) from Yunnan province, and analyze the relationship between the genotype and the phenotype. The blood samples and the clinical data of the HCM family members were collected.The coding exons and their flanking intronic regions of 28 previously reported genes related to HCM were screened in the proband by high-throughput sequencing. The mutations in proband were confirmed and detected in all family members ...

Corneal arcus as the presenting sign of familial hypercholesterolemia in a young child.

A 2.6-year-old boy presented with prominent corneal arcus. This clinical sign is rarely seen at such a young age and led to the diagnosis of familial hypercholesterolemia (FH). Genetic analysis detected biallelic pathogenic sequence variants c.1069G>A and c.2034C>A in the LDLR gene. There is significant cardiovascular morbidity and mortality associated with FH, hence early diagnosis and treatment is imperative.

Altered Functional Connectivity of the Primary Visual Cortex in Adult Comitant Strabismus: A Resting-State Functional MRI Study.

The aim of this study was to examine the functional connectivity between the primary visual cortex and other cortical areas during rest in normal subjects and patients with comitant strabismus using functional magnetic resonance imaging (fMRI).

Securing extraocular muscles in strabismus surgery: biomechanical analysis of muscle imbrication and knot tying technique.

Activity of near response cells during disconjugate saccades in strabismic monkeys.

Infantile strabismus is a common disorder, characterized by a chronic misalignment of the eyes, impairment of binocular vision, and oculomotor abnormalities. Nonhuman primates with strabismus, induced in infancy, show a pattern of abnormalities similar to those of strabismic children. This allows strabismic nonhuman primates to serve as an ideal animal model to examine neural mechanisms associated with aberrant oculomotor behavior. Here, we test the hypothesis that impairment of disparity vergence and horiz...

COL18A1 is a candidate eye iridocorneal angle closure gene in humans.

Primary angle closure glaucoma (PACG) is a common form of glaucoma in the Far East. Its defining feature is iridocorneal angle closure. In addition to PACG, indications of angle closure are included in the diagnostic criteria of related conditions primary angle closure suspect (PACS) and primary angle closure (PAC). To the best of our knowledge, a causative gene for iridocorneal angle closure in humans has not been identified. This study aimed to identify the genetic cause of iridocorneal angle closure in a...

Relationship between Ocular Deviation and Visual Function in Retinitis Pigmentosa.

In retinitis pigmentosa (RP), peripheral visual-field loss starts in early stages, whereas central vision loss occurs in advanced stages. Sensory strabismus gradually occurs in RP. We investigated the relationship between ocular deviation and visual function and explored for sensory strabismus risk factors in 119 consecutive patients with RP at various stages. We assessed ocular deviation at far and near distances, that is the central visual field, using the mean deviation (MD) value and visual acuity (VA),...

Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China.

Recent genome-wide association studies (GWAS) have verified eight genetic loci that were significantly associated with primary angle-closure glaucoma (PACG). The present study investigated whether these variants are associated with the ocular biometric parameters of anterior chamber depth (ACD) and axial length (AL) in a northern Chinese population, as well as whether there were differences in the association of genetic markers in our cohort based on ethnicity.

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.

This study aimed to investigate the genetic mutation characteristics of Kallmann syndrome (KS) with CHARGE syndrome through the clinical features and genetic analysis of a pediatric patient with KS in one pedigree.

Evidence That Leonardo da Vinci Had Strabismus.

Strabismus is a binocular vision disorder characterized by the partial or complete inability to maintain eye alignment on the object that is the target of fixation, usually accompanied by suppression of the deviating eye and consequent 2-dimensional monocular vision. This cue has been used to infer the presence of strabismus in a substantial number of famous artists.

Congenital Monocular Strabismus Fixus.

To investigate the clinical characteristics and magnetic resonance imaging (MRI) findings of the extraocular muscle and ocular motor nerves in congenital monocular strabismus fixus.

Instructing Residents in Strabismus Surgery.

Familial and Hereditary Forms of Primary Hyperparathyroidism.

Individuals with a familial predisposition to the development of parathyroid tumors constitute a small minority of all patients with primary hyperparathyroidism (PHPT). These familial syndromes exhibit Mendelian inheritance patterns and the main causative genes in most families have been identified. They include multiple endocrine neoplasia (MEN; types 1, 2A, and 4), hyperparathyroidism-jaw tumor (HPT-JT) syndrome, familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia (FHH), and neonat...

Preprodynorphin gene mutation causes progressive cardiac conduction disease: A whole-exome analysis of a pedigree.

Progressive cardiac conduction disease (PCCD) is a rare heart disease that usually shows familial inheritance. Potential genetic risk factors for PCCD have been mostly limited to genes that encode ion channels, cardiac transcription factors, T-box transcription factors, gap junction proteins, energy metabolism regulators and structural proteins.

High prevalence of strabismic visual field expansion in pediatric homonymous hemianopia.

If homonymous hemianopia develops in childhood it is frequently accompanied by strabismus. In some of these cases the strabismus increases the size of the binocular visual field. We determined how prevalent visual-field-expanding strabismus is in children who have homonymous hemianopia. Medical records were examined from 103 hemianopic patients with exotropia (XT) or esotropia (ET). For each participant, we determined whether their strabismus was in a direction that resulted in visual field expansion (i.e. ...

Efficacy of calcium excretion and calcium/creatinine clearance ratio in the differential diagnosis of familial hypocalciuric hypercalcemia and primary hyperparathyroidism.

Twenty-four-hour renal calcium-excretion (CE) and calcium/creatinine-clearance-ratio (CCCR), respectively, are widely used to rule out familial hypocalciuric hypercalcemia (FHH) in patients with suspected primary hyperparathyroidism before surgery. The aim was to evaluate the practicability of CE compared to CCCR.

Partial scleral buckle removal during strabismus surgery after retinal detachment repair.

To describe outcomes after partial scleral buckle removal at the time of strabismus surgery.

Vertical rectus muscle recession versus combined vertical and horizontal rectus muscle recession in patients with thyroid eye disease and hypotropia.

To compare the postoperative vertical drift in patients with thyroid eye disease (TED) with hypotropia who underwent vertical rectus recession alone versus recession combined with horizontal rectus recession.

Orbital cellulitis with choroidal detachment following strabismus surgery in an adult.

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