Gerard R. Manecke, Jr., MD

• Clinical Professor of Anesthesiology
• Chair, Department of Anesthesiology
• University of California, San Diego
• La Jolla, California

These abnormalities are accentuated in children with parenchymal brain injury impotence treatment devices generic viagra jelly 100 mg free shipping, where 54% have a prolonged prothrombin time erectile dysfunction treatment psychological cheap 100 mg viagra jelly free shipping. Of children who die with abusive head trauma with parenchymal brain injury erectile dysfunction pump hcpc viagra jelly 100 mg on-line, 94% display prolonged prothrombin time new erectile dysfunction drugs 2011 buy 100mg viagra jelly overnight delivery. The abnormalities are temporary erectile dysfunction book buy 100 mg viagra jelly overnight delivery, and do not explain retinal hemorrhages erectile dysfunction protocol video cheap 100mg viagra jelly with amex, which are also seen in children without coagulation abnormalities. Animal bites usually tear flesh, whereas human bites compress the flesh leaving an imprint. Intentional scalds (immersion into hot water) are seen more frequently in abusive injuries. When intentional, they follow certain patterns of symmetry: on the extremities they have a clear upper margin and may have a glove- or stocking-like pattern; if involving the buttock, sparing of the perineal fold is seen. Superficial burns should be observed over a period of 3 weeks, as they heal without a scar. Certain patterns of bruising help to distinguish abusive from accidental bruises: bruising in non-independently mobile infants; bruising away from bony prominences. Primary prevention: Educational programs have been developed to address a broad segment of society, which should includes parents and other child carers. These programs include coping strategies to deal with inconsolable crying, known as the period of purple crying. Secondary prevention: this involves targeted programs for populations at higher risk of abusive injury, which include parents or carers from lower socioeconomic classes, young parents, or those with previous social services contact. Tertiary prevention: this relates to programs directed at perpetrators to prevent recidivism. The programs developed are educational and have been shown to reduce the prevalence of abuse in defined populations. Munchausensyndromebyproxy this is an illness fabricated by the caregiver of the child for personal gain or attention. The perpetrator, who is frequently the mother, simulates or induces an illness in a child who is not capable or unwilling to identify the offender. Over-attentive caregiver or caregiver does not seem to be as worried about the child as medical staff. Do not be drawn by the counsel into giving opinions outside your area of expertise. A systematic review of the diagnostic accuracy of ocular signs in pediatric abusive head trauma. Characteristics that distinguish accidental from abusive injury in hospitalized young children with head trauma. Retinal haemorrhages in head trauma resulting from falls: differential diagnosis with non-accidental trauma in patients younger than 2 years of age. Safeguarding children and young people: roles and competences for health care staff. Centre for Disease Control and prevention: Injury Prevention and control: Violence prevention; Child maltreatment. Incidence and demography of nonaccidental head injury in southeast Scotland from a national database. Are there patterns of bruising in childhood which are diagnostic or suggestive of abuse Development and validation of a standardized tool for reporting retinal findings in abusive head trauma. Use of digital camera imaging of eye fundus for telemedicine in children suspected of abusive head injury. An inter-observer and intra-observer study of a classification of RetCam images of retinal haemorrhages in children. Grading system for retinal hemorrhages in abusive head trauma: Clinical description and reliability study. Quantitative measurement of retinal hemorrhages in suspected victims of child abuse. Retinal haemorrhages and related findings in abusive and non-abusive head trauma: a systematic review. A Systematic Review of the Differential Diagnosis of Retinal Haemorrhages in Children with Clinical Features associated with Child Abuse. Hand-held spectral domain optical coherence tomography finding in shaken-baby syndrome. Hemorrhagic Retinoschisis in Shaken Baby Syndrome Imaged with Spectral Domain Optical Coherence Tomography. Imaging the infant retina with a hand-held spectral-domain optical coherence tomography device. Update from the ophthalmology child abuse working party: Royal College ophthalmologists. Bilateral rhegmatogenous retinal detachments with unilateral vitreous base avulsion as the presenting signs of child abuse. Correlation between retinal abnormalities and intracranial abnormalities in the shaken baby syndrome. Terson syndrome with ipsilateral severe hemorrhagic retinopathy in a 7-month-old child. Dense vitreous hemorrhages predict poor visual and neurological prognosis in infants with shaken baby syndrome. Severe retinal hemorrhages in infants with aggressive, fatal Streptococcus pneumoniae meningitis. Diffuse unilateral hemorrhagic retinopathy associated with accidental perinatal strangulation. Bilateral retinal hemorrhages in a preterm infant with retinopathy of prematurity immediately following cardiopulmonary resuscitation. Retinal haemorrhages in an infant following RetCam screening for retinopathy of prematurity. Prevalence of retinal hemorrhages and child abuse in children who present with an apparent lifethreatening event. Prevalence of retinal hemorrhages in pediatric patients after in-hospital cardiopulmonary resuscitation: a prospective study. Prevalence of retinal hemorrhages in infants after extracorporeal membrane oxygenation. Incidence, distribution, and duration of birth-related retinal hemorrhages: a prospective study. Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria. Intraretinal hemorrhages and chronic subdural effusions: glutaric aciduria type 1 can be mistaken for shaken baby syndrome. An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury. Shaken baby syndrome without intracranial hemorrhage on initial computed tomography. A case of shaken baby syndrome with unilateral retinal hemorrhage with no associated intracranial hemorrhage. Ocular findings in raised intracranial pressure: a case of Terson syndrome in a 7-month-old infant. A finite element infant eye model to investigate retinal forces in shaken baby syndrome. Vitreoretinal traction and perimacular retinal folds in the eyes of deliberately traumatized children. Retinal hemorrhage and brain injury patterns on diffusion-weighted magnetic resonance imaging in children with head trauma. Spectacles for the treatment of extreme myopia or hyperopia can cause prismatically induced optical aberrations, a narrow visual field, and social ostracism due to unattractive thick lenses. Group 1, above, consists primarily of children with neurobehavioral abnormalities and cognitive disability. They have severe tactile aversion and thus refuse to wear glasses or contact lenses in spite of being functionally blind without the refractive correction. Their visual impairment may impede their attention and social interaction, exacerbating significant behavioral and social problems, and further interfere with the development of normal communication skills. This group is mostly comprised of former premature infants with severe retinopathy of prematurity and high myopia, children with genetic mutations, or with autism spectrum disorder. In group 2, spectacle-induced aniseikonia and anisovergence impede stereopsis and binocular vision, and may cause asthenopia. Contact lenses, however, in children are often impractical due to difficulty with insertion, cost, intolerance, non-compliance, and frequent loss. The result was variable levels of visual impairment in the affected eye(s) depending on the severity of the refractive error. Refractive surgery, just as in adults, reduces refractive error in these children and thus reduces or eliminates these other related issues. A new mindset is needed when we think about the management of severe refractive error in children. Untreated high refractive error in young children can result in severe levels of blur-induced amblyopia akin to that found with a dense congenital cataract or leukoma. We should approach this form of amblyopia as aggressively as we would treatable 739 Introduction Excimer laser refractive surgery for high refractive error associated with amblyopia has been performed for almost two decades in children, with good visual acuity and refractive results and minimal complications. Most recently, excimer laser refractive surgery has been performed for accommodative esotropia with reasonable results. There are, however, several subsets of children with amblyopia that often fail this standard therapy. Surgery is effective in treating high refractive errors when standard therapy fails, with few complications. Lastly, refractive surgery may prove to be a viable alternative in older children with accommodative esotropia if longer-term follow-up in children who have undergone refractive surgery for this indication demonstrates stability of ocular alignment. Some recent studies have shown refractive surgery to be effective though the sample sizes in the studies were small. They are technically identical to pediatric cataract surgery except the crystalline lens being removed is clear. Types of refractive surgery used in children Corneal and intraocular procedures can reduce refractive error. The flap is folded back and the laser ablation is performed on the deeper corneal stroma. These procedures are used to treat higher refractive errors that fall outside the treatment parameters for the excimer laser, or in cases where the cornea is too thin for the excimer laser. Because most children who fail standard amblyopia therapy and are treated with excimer laser procedures require large excimer treatment doses, the depth of the corneal ablation is greater than in most adults. It is typically persistent when the topical steroid (fluorometholone or loteprednol) is discontinued too soon. Most of the regression following excimer refractive procedures occurs in the first year, but it can continue longer; it is more significant with higher excimer treatment doses. Children with high hyperopia, and those who have high lenticular myopia after retinopathy of prematurity may be unsuitable because of shallow chambers. Experience indicates that thus far endothelial cell loss has been low36,38,39 and no greater than after adult implantation; however, accurate endothelial cell counts are difficult to obtain in the children. These potential risks are important, but they must be weighed against the certainty of permanent blur-induced visual impairment if the child continues uncorrected. These potential complications, if they occur, will occur many years in the future, and there are effective treatments for them if they do. If the axial length exceeds approximately 29 mm, prophylactic diode laser therapy may be considered, to reduce the risk of retinal detachment. The qualification for all pediatric refractive visual acuity results is that tolerances are wider than in adult refractive surgery. Seldom does one achieve the precision commonplace in adult refractive surgery where the treatment doses are much smaller as a rule. Roughly, 50% of the children treated have improved binocular fusion and stereopsis after refractive surgery. When measured using Likert scale visual function questionnaires, before and after refractive surgery, scores for eye contact, tracking, observing and reacting, judging depth and distance, and reading improved by an average 73% in isoametropic children and 58% in anisometropic children. Controversies in pediatric refractive surgery Controversies exist regarding pediatric refractive surgery, even among its advocates. The main issues are the ideal age at which to perform refractive surgery and what procedure is optimal. Most experts recommend the procedure be performed early in the visual neuroplastic years when the possibility of reversal or even prevention of amblyopia is greatest. The eye is still growing and determination of the proper treatment dose can be difficult, as the refractive error will change with eye growth. In the majority of studies thus far, the refractive error treated was greater than 9 diopters of myopia or 4 diopters of hyperopia, so the risk of overtreatment is low. Another potential disadvantage is difficulty with centration of the excimer treatment as young children generally require the treatment to be performed using general anesthesia. Improvements in visual acuity and visual function Is refractive surgery effective in children References Summary Refractive surgery in children with high refractive error and amblyopia, unresponsive to standard therapy, appears to be safe and effective after nearly two decades of follow-up. While the majority of children with refractive error, either unilateral or bilateral, do well with contact lenses or spectacles, for the small subset that do not, refractive surgery is a useful treatment and a reasonable option to prevent a lifetime of severe visual impairment. Laser-assisted subepithelial keratectomy for bilateral hyperopia and hyperopic anisometropic amblyopia in children: one-year outcomes. Clinical results of excimer laser photorefractive keratectomy for high myopic anisometropia in children: four-year followup.

Corneal angiography for guiding and evaluating fine-needle diathermy treatment of corneal neovascularization erectile dysfunction at age 29 best order for viagra jelly. Subconjunctival bevacizumab induces regression of corneal neovascularisation: a pilot randomised placebo-controlled double-masked trial erectile dysfunction 60 year old man buy discount viagra jelly online. Corneal fine needle diathermy with adjuvant bevacizumab to treat corneal neovascularization in children erectile dysfunction quiz viagra jelly 100mg free shipping. Surgical management of corneal limbal dermoids: retrospective study of different techniques and use of Mitomycin C erectile dysfunction treatment in ayurveda purchase viagra jelly paypal. Exophthalmos from orbit disease or craniofacial abnormalities (see Chapter 28) can result in poor lid closure erectile dysfunction treatment massachusetts order viagra jelly with amex. Immediate management requires protection of the eye with ointment and lubrication erectile dysfunction pump ratings buy discount viagra jelly on line, or a moist chamber fashioned from plastic drape taped to the periocular skin; however, surgical intervention, usually tarsorrhaphy, to establish better eyelid protection of the ocular surface is usually required. A randomized, controlled trial of corneal collagen cross-linking in progressive keratoconus: three-year results. Descemet stripping automated endothelial keratoplasty for endothelial decompensation in buphthalmos. Classification Recently, an international group of cornea specialists published the second version of a list of conditions considered to be dystrophies. Corneal dystrophies are rare Mendelian inherited conditions that exhibit bilateral and usually symmetrical corneal changes. Nomenclature has been difficult because of controversies about phenotype definitions. Many authors have reported different phenotypes using the same headings, or the same phenotype using different headings (see below under "Classification"). This chapter will focus on a few classic dystrophies, highlighting the clinical presentation in children and emphasizing the differences from adults. It is difficult to document photographically the subtle changes associated with corneal dystrophies in children. However, when examining children for a corneal dystrophy, do not look for the slitlamp appearance found in adults. You need to look for subtle opacities, which may be similar to the adult clinical picture, but the final diagnosis is made after examining the whole family. Most of the dystrophies are progressive, and the figures illustrate how different the clinical picture may be in children. As the mutation rates for many of the corneal dystrophies are low, it is important to be cautious when diagnosing sporadic cases. They account for many of the classic corneal dystrophies, which are allelic variations of dominant entities of the same gene. Although naming the diseases according to mutation number has not gained universal recognition, most ophthalmologists rely on a genetic analysis to distinguish between the rarer varieties. Definition the term "dystrophy" is derived from the Greek words dys (wrong or difficult) and trophe (nourishment). The word was first used 150 years ago for a group of entities that were clearly not traumatic or infectious in origin. They were believed to be due to poor nerve supply or nourishment and later proved to be genetic in origin, but the word "dystrophy" stuck to this group of inherited diseases. Corneal opacification associated with systemic conditions such as cystinosis are not included in this chapter. Degenerations 330 Granular dystrophies Granular corneal dystrophy, type 1 (a category 1 dystrophy) Granular corneal dystrophy, type 1 is distinguished by discrete granular-appearing corneal opacities in an otherwise clear cornea. A the opacities are white in direct illumination, and transparent, like a crack in glass, by retroillumination. The granules increase in number and size and progress into the stroma during late childhood when visual deterioration is moderate. Unlike most dominant disorders, the expressivity is nearly constant between generations. Granular corneal dystrophy, type 2 (a category 1 dystrophy) Granular corneal dystrophy, type 2 (mutation R124H) is probably the most common corneal dystrophy worldwide. When patients with this condition from the Italian province of Avellino were first described, it was not recognized that the phenotype had been described decades earlier by others. Clinically and on electron microscopy, this mutation looks like a mixture of a granular and lattice dystrophy with fewer, but larger, opacities in the cornea, particularly later in life. Molecular genetic testing is now available for granular dystrophies using buccal mucosal swabs. Several subtypes have been described; they should be distinguished by genetic analysis. Its hallmark is deposition of amyloid, recognized in a child by three distinct slit-lamp findings2: 1. The stroma becomes increasingly hazy over time, resulting in glare and worsening of vision. Lattice lines gives rise to the name of the condition, but usually are only present in adults. Tiny subepithelial dots in a young school child later expected to turn into the adult honeycomb pattern. Over the years, the corneal stroma becomes increasingly hazy between the opacities with an irregular surface. As it is inherited as an autosomal recessive trait, there is often a history of consanguinity. However, it is not until their twenties that patients develop arcus lipoides and a diffuse stromal haze. Congenital hereditary endothelial dystrophy Congenital hereditary endothelial dystrophy was first described by Maumenee. What cannot be seen in the picture is the opaque ground substance between opacities. Progressive visual deterioration is symmetrical and usually occurs in the second or third decade. Posterior polymorphous corneal dystrophy (some subtypes are a category 1, some a category 2 dystrophy) this autosomal dominant dystrophy may be seen in the very young. As the name suggests, there is usually deep involvement in contrast to most other corneal dystrophies and the opacities may have varying appearances. Three subtypes of posterior polymorphous dystrophy have been linked to chromosome 20q11 (unknown gene) and 1p34. Management Most children with corneal dystrophies in the anterior layers of the cornea do not need treatment. Symptoms requiring treatment include decreased vision from corneal opacity or corneal edema and recurrent corneal erosions. Medical management may be useful for recurrent erosion symptoms with temporary therapeutic contact lens wear, isotonic or hypertonic artificial tear supplementation, or lubricant ointments. Superficial keratectomy is performed under general anesthesia followed by placement of a therapeutic contact lens. While this may be helpful in severe cases, supportive medical therapy is typically the mainstay of therapy with placement of a therapeutic soft contact lens and topical lubricants. Meesmann dystrophy is particularly challenging to treat with surgical methods, as recurrence is rapid and persistent over time. Promotion of scarring of the cornea with superficial keratectomies may be helpful in rare situations but may lead to reduced visual acuity. The mainstay of treatment for Meesmann dystrophy is supportive, with therapeutic bandage soft contact lenses, and topical lubricants. It may be asymptomatic or present in early childhood with ocular irritation and photophobia due to recurrent erosions and a mild blurring of vision. Schnyder corneal dystrophy (a category 1 dystrophy) this autosomal dominant corneal dystrophy can be diagnosed in children but may have a variable expression. Very discrete subepithelial crystals in a 4-year-old (A) and a 10-year-old patient (B) without any arcus. Deep anterior lamellar keratoplasty as an alternative to penetrating keratoplasty. Anatomy the crystalline lens, like the cornea, has two principal optical properties: transparency and refractive power. It is a transparent, biconvex, avascular mass of uniquely differentiated epithelial cells. It lies immediately posterior to the iris and is held in position behind the pupil by zonular fibers from the ciliary body. It is completely enveloped by a collagenous capsule, the basement membrane of the cuboidal epithelial cells, which lie beneath it in a single layer. The cuboidal cells at the equatorial region of the lens develop throughout life to form spindle-shaped secondary lens fibers. This addition of fibers at the equatorial region slowly changes the morphology of the lens from a near-spherical fetal shape, to an elliptical biconvex shape (with a diameter of approximately 9 mm and an anteroposterior depth of 5 mm) in childhood and early adulthood. The fetal nucleus is demarcated from the embryonic nucleus by Y-shaped upright sutures anteriorly and inverted Y-shaped sutures posteriorly. Successive nuclear zones are laid down during development and those deposited after birth contribute to the adult nucleus. Embryology the lens develops as a thickening of the surface ectoderm overlying the optic vesicle. The mitotically active surface ectoderm is fixed in place, resulting in cell crowding, elongation, and thickening of the placoid. However, there is no direct cellular contact between the basement membranes of the optic vesicle and surface ectoderm. Lens vesicle detachment is the initial event leading to formation of the anterior segment of the eye (day 33). It is accompanied by migration of epithelial cells via a keratolenticular stalk, cellular necrosis, and basement membrane breakdown. The detached lens vesicle is lined by a single layer of columnar epithelial cells surrounded by a basal lamina, the future lens capsule. Primary lens fiber formation occurs in the epithelial cells lining the posterior surface of the lens vesicle and is promoted by the adjacent retinal primordium. The anterior lens cells nearest the corneal primordium remain a cuboidal monolayer and become the lens epithelium. Epithelial cells differentiate into secondary lens fibers at the lens equator (lens bow). These fibers elongate both anteriorly and posteriorly and insert over the primary lens fibers. Zonular fibers are derived from the non-pigmented ciliary epithelium during the fifth month of gestation. It envelops the developing lens and nourishes it at a time when aqueous production and formation of the anterior chamber have not yet begun. This intraocular network of vessels begins to develop in the first month of gestation, is maximal in the second to third month, and begins to regress by the fourth month. Developmentalabnormalitiesof thelens Anomalous lens development can often be seen in the context of more global developmental abnormalities of the eye and broadly include: complete absence of the lens (primary aphakia) and anomalies of lens size, shape, position, and transparency. Congenital aphakia Congenital aphakia is rare and is invariably associated with significant anterior/posterior segment developmental abnormalities. They may occur unilaterally as an isolated anomaly or bilaterally as part of a uveoretinal coloboma phenotype. Lens colobomas may be seen secondary to zonular damage by a congenital ciliary body tumor medulloepithelioma. However, distinguishing lenticonus from lentiglobus can be difficult clinically; accordingly, there has been significant overlap in the use of these terms in the literature. Broadly, posterior Lens duplication Duplication of the lens is a very rare anomaly associated with corneal metaplasia, uveal coloboma, and cornea plana. The resulting refractive error through the central lens is often much more myopic and astigmatic than through the peripheral lens. Posterior lentiglobus is possibly more common than lenticonus and is usually unilateral. By contrast, bilateral posterior lentiglobus more often has a genetic cause, can be inherited as an X-linked or an autosomal dominant trait,12 and is occasionally associated with microcornea, Duane syndrome, and anterior lenticonus. The associated cataract is thought to be caused by mechanical stretching of lens fibers. The presence of the persistent hyaloid remnant suggested that it was important in the pathogenesis. The ocular abnormalities include: a dot-and-fleck retinopathy (85%), peripheral retinal thinning, anterior lenticonus (25%), corneal opacity, and, more rarely, a posterior polymorphous corneal dystrophy and giant macular hole. Ectopialentis Ectopia lentis or lens dislocation is most commonly due to disorders that disrupt the fibrillin-rich microfibrils of the ciliary zonule, affecting its structure and function. Displacement of the lens can range from subtle subluxation, to total dislocation due to breakage of most or all of the zonular attachments. Ectopia lentis usually results in reduced visual acuity due to induced refractive error in the first instance. In addition to the refractive effects, subluxation or luxation can lead to sectoral shallowing of the anterior chamber, subluxation of the lens into the anterior chamber, and glaucoma. Anterior lentiglobus has rarely been described in the literature and anterior lenticonus is more commonly described.

Affected individuals typically become symptomatic after the second decade of life erectile dysfunction funny images purchase viagra jelly online from canada. Fundus examination often reveals multiple gray-white punctate spots scattered in the peripheral retina purchase erectile dysfunction drugs discount viagra jelly 100 mg with amex. Dark adaptometry demonstrates elevated rod and cone thresholds impotence kidney cheap viagra jelly 100mg otc, with rods more severely affected erectile dysfunction rates order viagra jelly overnight. These include ophthalmoplegia erectile dysfunction 19 year old male purchase 100 mg viagra jelly visa, ptosis impotence is a horrifying thing order 100 mg viagra jelly with visa, nystagmus, anisocoria, cataract, angioid streaks, and a progressive retinal dystrophy characterized by pigmentary changes and yellow-white midperipheral dots located at the deep retinal layers. These conditions are more commonly seen in adults and are broadly termed "white dot syndromes. Cardiovascular abnormalities (occlusive peripheral vascular disease) and retinal complications are also observed. Fundus photograph of the left and right eyes of a 16-year-old individual affected with pseudoxanthoma elasticum. They are most easily visualized on fluorescein angiography where they can exhibit a "stars-in-the-sky" pattern (marked hyperfluorescence in early arteriovenous phase). Notably, the extent of ocular involvement does not appear to be related to the severity of renal involvement. These spare the fovea, and may extend to or solely affect the retinal Primary hyperoxaluria Primary hyperoxaluria is a rare inborn error of oxalate metabolism resulting in increased serum and urinary levels of oxalate. Fundus photograph of the left and right eyes of a 28-year-old individual with Alport syndrome (top panel); fundus autofluorescence imaging (bottom panel) was normal. Fundus photograph of the left and right eyes of a 22-year-old affected individual. Enhanced depth imaging optical coherence tomography features in a young case of primary hyperoxaluria Type 1. Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth. Thirty-year follow-up of an African American family with macular dystrophy of the retina, locus 1 (North Carolina macular dystrophy). Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus. Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. The retinal pigment epithelialspecific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Vitamin A intake and serum retinol levels in children and adolescents with cystic fibrosis. A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. Macular function and morphologic features in juvenile Stargardt disease: longitudinal study. A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease. A peculiar condition of choroiditis occurring in several members of the same familiy. North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis. Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q. Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy. Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss. Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy. Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings. Outer retinal circular structures in patients with Bietti crystalline retinopathy. Utilization of fundus autofluorescence, spectral domain optical coherence tomography, and enhanced depth imaging in the characterization of bietti crystalline dystrophy in different stages. High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors. Spectral domain optical coherence tomographic findings of bietti crystalline dystrophy. Functional and clinical findings in 3 female siblings with crystalline retinopathy. Maternal and child undernutrition: global and regional exposures and health consequences. Vitamin A supplements for preventing mortality, illness, and blindness in children aged under 5: systematic review and meta-analysis. Functional observations in vitamin A deficiency: diagnosis and time course of recovery. Electrophysiological and microperimetry changes in vitamin A deficiency retinopathy. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abetalipoproteinaemia. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Pseudoxanthoma elasticum: diagnostic features, classification, and treatment options. Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Choroidal changes associated with Bruch membrane pathology in pseudoxanthoma elasticum. Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Spectral-domain optical coherence tomography visualisation of retinal oxalosis in primary hyperoxaluria. Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome. Multimodal imaging of the macula in hereditary and acquired lack of macular pigment. Optical coherence tomography aspect of crystalline macular dystrophy in Sjogren-Larsson syndrome. Subclinical changes in the juvenile crystalline macular dystrophy in Sjogren-Larsson syndrome detected by optical coherence tomography. Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjogren-Larsson syndrome. Kjellin syndrome: hereditary spastic paraplegia with pathognomonic macular appearance. Retinal findings in patients with Alport Syndrome: expanding the clinical spectrum. Structure-function correlation of focal and diffuse temporal perifoveolar thinning in Alport syndrome. Bilateral macular sub-retinal fluid and retinal pigment epithelial detachment associated with type 2 membranoproliferative glomerulonephritis. Flecked retina associated with cafe au lait spots, microcephaly, epilepsy, short stature, and ring 17 chromosome. Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings. Therefore, children and young adults with diabetes should be cared for by a multidisciplinary team including a diabetologist, pediatrician, and ophthalmologist. However, a genetic susceptibility to proliferative diabetic retinopathy has been suggested. The prevalence of diabetic retinopathy seems to be decreasing; in a recent study, diabetic retinopathy was found in approximately 50% of adolescents with type 1 diabetes mellitus after a median duration of 9 years in the early 1990s, compared with only 12% in recent years. The majority of guidelines recommend that the first fundus examination occurs after puberty in children and adolescents with type 1 diabetes. Sickle cell disease, leads to a variety of occlusive vascular changes, both proliferative and non-proliferative, in the anterior and posterior segments of the eye. Vitreous hemorrhage and tractional or rhegmatogenous retinal detachments may also occur. Neovascularization of the disc is present, in addition to multiple cotton-wool spots and intraretinal hemorrhages. Multiple cotton-wool spots and a small perifoveal hemorrhage occurring 3 months after bone marrow transplant. Radiation induces a cascade of changes in the retinal vascular architecture, predominantly in the macula, which lead to vascular non-perfusion, leakage, and proliferation. Histologic studies demonstrate a preferential loss of vascular endothelial cells with relative sparing of the pericytes (which is a distinct contrast to the early loss of pericytes in diabetic retinopathy). Various host and radiation parameters determine the risk of developing radiation retinopathy. The chemotherapeutic agents may be directly toxic to the retinal vasculature, potentially increasing the susceptibility to retinopathy, since retinopathy develops with relatively low doses of total radiation as well as in its absence. Fluorescein angiography shows leakage from the affected vessels without occlusive vasculopathy. It may be associated with a variety of causes, but in spite of an extensive work-up many cases remain "idiopathic. Intravitreal triamcinolone has been reported to successfully treat persistent macular edema after idiopathic frosted branch angiitis in an 11-month-old boy. Fluorescein angiography is very helpful to show vascular leakage, cystoid macular edema, or optic disc leakage as possible signs of inflammation. An alternative is to perform an oral angiogram, by having a child swallow pure fluorescein dye with some sweetener and taking fundus photographs 20 minutes later. The time needed for the dye to appear in the fundus after passing the gastrointestinal system is variable. The treatment will depend on the cause and the extent of the condition; often, laser photocoagulation will be necessary to prevent bleeding from proliferative retinopathy. Angioid streaks Angioid streaks are dark or light broad lines radiating from the optic disc that have the appearance of retinal vessels, hence the name "angioid streaks. The prognosis used to be poor because of severe congestive heart failure and ischemia during the neonatal period, but the outcome has improved as a result of treatment with bisphosphonates. Other systemic conditions associated with angioid streaks in children are sickle cell disease and thalassemia. They radiate from the optic disc, sometimes with circumferential connections, and tend to increase with age. The pattern is believed to result from traction forces exerted by the extraocular muscles. They taper away from the optic disc where they have formed a confluent ring around the disc. Their presence infers an increased risk of serious retinal hemorrhage from minor (blunt) trauma. The skin is soft, lax, and slightly wrinkled or pebbly in appearance, which has been described as cobblestoned. Optical coherence tomography demonstrates severe retinal distortion and swelling with preretinal gliosis. In cases in which spontaneous peeling occurs, long-term follow-up is warranted until posterior vitreous detachment is complete, as delayed cases of macular hole have been reported.

Standard cuff care principles should be observed including cuff pressure care to prevent intimal mucosal ischemia and subsequent stenosis erectile dysfunction kya hai buy viagra jelly 100mg amex. Steroids As with any form of laryngeal inflammation erectile dysfunction 31 years old order 100 mg viagra jelly visa, steroids should be used to reduce airway edema and allow more rapid apposition of traumatized mucosa treatment of erectile dysfunction in unani medicine quality viagra jelly 100mg. This is useful if the surgical reduction of fractures erectile dysfunction premature ejaculation treatment generic viagra jelly 100mg free shipping, either open or endoscopic erectile dysfunction caused by fatigue buy cheap viagra jelly 100mg on line, is to be attempted erectile dysfunction age at onset purchase viagra jelly 100 mg on-line. Care When Intubating the Traumatized Larynx Standard intubation with a Mackintosh laryngoscope, or other anesthetic blade, is effectively a blind procedure after the initial visualization of the larynx is made. This can be a significant problem in patients with laryngeal trauma as the passage of the tube through the glottis can cause further laryngeal disruption and in severe cases can enter the surrounding structures of the neck. Fiberoptic intubation does not help this, as the tube can still get caught in the larynx prior to entering the trachea. If transglottic intubation is to be attempted, the best way to ensure minimal laryngeal disruption is by visualizing the glottis with an operating laryngoscope and passing a microlaryngeal tube through the lumen directly into the subglottis. In cases of significant laryngeal trauma and/or prolonged intubation, or if specialist equipment is not available, then the safest option may be to go straight for a tracheostomy bypassing the larynx completely. This is especially the case if caustic chemical injury is the mechanism, as the presence of the endotracheal tube is likely to promote stenosis. Laryngeal Irrigation In cases of caustic and thermal injury to the larynx and pharynx, a thorough atraumatic irrigation of the area is recommended to reduce ongoing injury from the caustic agent. This will generally require esophageal irrigation in addition to laryngeal in cases of caustic ingestion. Acid Suppression Laryngopharyngeal reflux is recognized as a cause of laryngeal inflammation. This is of greater importance when the larynx itself is traumatized, as it will prolong edema and promote granulation both of the larynx and of the trachea if the patient is intubated. Antibiotics In cases of cartilaginous fracture of the laryngeal framework, especially if there is an open wound in the neck, infection can become a serious complication; therefore, antibiotics are to be recommended. Endotracheal Tube Care If the patient is to be intubated for a prolonged period of time, it is important that the patient remains heavily sedated, as the movement of the larynx during swallowing Chapter 38: Laryngeal Trauma-Blunt Injury 361 Humidification of Inspired Gasses All cases of laryngeal trauma require good warmed humidification to reduce drying of secretions and inducing tracheitis. Cricothyroidotomy is to be avoided as it causes further disruption to an already traumatized area, and if jet ventilation is used, it may cause surgical emphysema in the neck further compromising the airway. If tracheostomy is performed, it should be placed as high as possible in the trachea below the area of injury. Once airway stabilization is obtained, further surgical management is only required if there is ongoing bleeding or grossly contaminated wounds such as animal bites. Most explorations should therefore be undertaken in a controlled elective manner, the timing of which is not critical but should ideally be within a week of injury. There are advantages in letting edema settle for a few days before undertaking such a procedure. The exception to this is laryngotracheal discontinuity in which case urgent anastomosis should be undertaken to prevent the trachea retracting into the superior mediastinum. Specific Depending on the preference of the surgeon, both endolaryngeal and open procedures have been described in the management of the traumatized larynx. Restoring the contour and integrity of the laryngeal framework: There are various techniques described in achieving this including internal laryngeal stents of various fabrication, plating of the cartilages, and even external fixation. The principle is one of the elevations of, and then support of, the cartilage, as different injuries fractures have different support requirements, in which each has to be tailored to the clinical situation. Stabilizing/relocating the cricoarytenoid and cricothyroid joints: these are rare injuries that can often be missed. If diagnosed, the joints are manipulated back into their anatomically normal position. This may on its own be enough to hold the position, but if there is persistently re-dislocation stabilization including the use of wire supports have been described. Muscular reattachment: While most muscular injuries of the larynx will heal with conservative management if there is disruption to the anterior attachment of vocalis muscle at the anterior commissure, this will have significant effects on both the airway and voice. If found, it is important to reattach the anterior commissure to the thyroid cartilage. This can be done with a suture but may require additional support with a transglottic keel. The role of the keel in this situation is not only to help stabilize the laryngeal structures but also to prevent anterior webbing of the cords. Mucosal repair: Most mucosal trauma will heal well in the absence of any specific intervention. Areas where mucosal injuries are sensitive include the anterior commissure, the free edge of the vocal cords, and the junction between the vocalis muscle and the vocal process of the arytenoids. Injuries in these areas should either be closed or where this is not possible ragged areas of mucosa be trimmed to reduce the chance of adhesions and webbing. Where possible, mucosal cover of damaged cartilage should be attempted; failure to do so can increase the risk of infection and subsequent chondritis. Neural repair: the role of exploration and anastomosis of damaged recurrent laryngeal nerves is controversial. If during surgical exploration for other reasons transection of the nerve or nerves is identified, then it is certainly reasonable to perform a tension-free anastomosis. This is a different situation to exploring the nerve with the intention of repairing it. In this situation, the very act of exploring the nerve may damage the nerve, further exacerbating the initial injury. Airway insufficiency: It can be caused by stenosis secondary due to luminal scarring or framework disruption or vocal cord immobility either as a result of damage to the recurrent laryngeal nerves or cricoarytenoid disruption with associated scarring and fixation. This can be as a result of reduced laryngeal mobility, reduced clearance of pharyngeal contents, or reduced cough pressure due to poor glottic closure or respiratory effort. Voice: Even relatively minor degrees of laryngeal trauma can have long-term effects on the quality of the voice depending on the area of disruption. Most patients with significant laryngeal trauma will require ongoing management with multiple procedures, for diagnostic reasons, to evaluate healing and to optimize outcomes. In addition to medical interventions, it is important to involve speech and language therapy at an early stage both to evaluate and to assist in the management of these potentially complex cases. To ascertain the true nature of such a lesion, videostroboscopy needs to be performed. Following a provisional clinical diagnosis, a patient will often require microlaryngoscopy and biopsy under general anesthesia. Altered voice can be in many forms, from a mild almost imperceptible change only noticed by the patient through various degrees of altered quality to aphonia. Persistent harshness or roughness of the voice is a symptom that needs further assessment because there is a high likelihood that there will be structural pathology of one or both vocal folds. Characteristically, the voice quality never returns to what the patient would regard as being normal, but rarely is aphonia associated with it. The philosophy behind this recommendation is that patients with laryngeal malignancy classically present with harshness of their voice and, if such a patient presents early, and a malignancy is identified at an early stage, then there is an extremely good prognosis associated with the treatment. Although harshness of the voice is a common symptom, laryngeal malignancy is relatively rare, with approximately 8% of patients presenting with hoarseness having a head and neck malignancy (personal communication, West of Scotland Cancer Group). This is a common condition that affects a significant number of the population, the most common etiologic factor being smoking. Chronic inflammation of the vocal cords can be caused by many stimulating or aggravating factors, the most common of which, in addition to smoking, are voice abuse and gastroesophageal and laryngopharyngeal reflux disease. Clinical Features Patient presents with persistent roughness of their voice, with the voice not returning to normal. The severity of the hoarseness may vary, but rarely does it involve complete loss of voice or aphonia. Questions relating to common Chapter 39: Unremitting Rough or Husky Voice etiologic factors such as smoking, voice use, occupation, and upper gastrointestinal dysfunction, principally gastro esophageal reflux and laryngopharyngeal reflux disease, should be addressed. This is invariably associated with smoking and affects females more frequently than males. The key examination is flexible nasolaryngoscopy that reveals that both vocal cords are inflamed, irregular, edematous with a diffusely roughened surface of both vocal cords and possible areas of associated hyperkeratosis. The right-hand image shows the appearance after the large lesion on the left vocal fold has been excised. Note location in the middle part of the membranous vocal fold, where vibrating activity on phonation is maximal. This is a noticeable characteristic of the clinical features, and female patients frequently find it embarrassing. Vocal Cord Polyp Epidemiology/Pathogenesis this may arise as a simple polyp, or polyps, from the vocal cord and prevent the vocal cords adducting fully with subsequent dysphonia. The severity of the dysphonia is related to the extent of the polyp and its position on the vocal cords. A large polyp arising anteriorly in the vocal cords will have the greatest effect. On occasions, mucus catches between these swollen areas on adduction and abduction of the vocal cords. Vocal Cord Nodules Epidemiology/Pathogenesis Vocal cord nodules arise through persistent misuse or abuse of the voice. They classically arise in professions where voice use is important namely those of teaching, lecturing or professional singers or actors. Equally, they may arise socially where voice use is frequent, such as coaching or karaoke singing. In the early stages, there are small edematous areas at the junction of the anterior one-third and posterior two-thirds of the vocal cords and, with persistence, they become more fibrotic and firm and increase in size. Subepithelial Vocal Cord Cyst Epidemiology/Pathogenesis these cysts arise in the structures below the overlying epithelium. Clinical Features Dysphonia can vary significantly in severity from mild through to quite severe, but there tends to be a persistence Clinical Features Patients present with persistent poor voice quality. This may have occurred despite intervention by speech and language therapists or voice pathologists. This is as a result of the subepithelial vocal cord lesion causing a swelling in the anteromedial aspect of the vocal cord at or around the classical position of vocal cord nodules. This unilateral appearance should prompt the clinician to consider the question of an intracordal lesion. To confirm or refute the presence of such a lesion, videostroboscopy should be performed. This subjective assessment of the mucosal wave of the larynx shows normal mucosal wave on the unaffected side with the loss of the mucosal wave on the affected side. The degree of dysplasia is a histologic assessment, but effectively, from a management perspective, can be regarded as two categories, namely: mild/moderate dysplasia and severe dysplasia/carcinoma in situ. This spectrum of conditions is associated with smoking but is not exclusively due to smoking. Clinical Features Varying degrees of dysphonia ranging from mild through to severe and generally dependent on site and area of involvement of the histologic changes. Laryngeal Papillomatosis Epidemiology/Pathogenesis Laryngeal papillomatosis is caused by the human papilloma virus, subtypes 6 and 11, and affects males and females equally. The papilloma virus also affects the genital tract that in turn can result in the infection of a newborn baby in an affected mother so resulting in juvenile laryngeal papillomatosis. Similarly, in the adult population, it can be spread by oral sex by the genital/oral route of transmission. This is a similar mode of possible transfer of the same virus, but of a different subtype, in relation to the development of human papilloma virus induced head and neck cancer, principally oropharyngeal cancer. The areas may coexist with other pathologies such as chronic laryngitis and in the vast majority of cases the vocal cords will be fully mobile as there will not be any invasion of the submucosal structures. Laryngeal Cancer Epidemiology/Pathogenesis In the vast majority of cases, laryngeal malignancy is squamous cell carcinoma and occurs as a result of smoking. In northern European countries, it affects the glottis more than the supraglottis and very rarely arises from the subglottis. Clinical Features the patients present with persistent poor voice quality, which may be a severe dysphonia. Characteristically, as the anterior two-thirds of the glottis becomes increasingly affected by an increasing volume of papillomata, there is an increasing severity of the dysphonia. With the volume of the papillomata also increasing, patients may become breathless and possibly stridulous. Clinical Features A patient presents with rough voice, which becomes progressively worse with time. As the tumor increases in volume, more subsites of the larynx are involved and, in addition, there is involvement of the deeper structures of the larynx including the small muscles of the larynx initially and, thereafter, the perilaryngeal spaces. Ultimately, there is reduction in the movement of the ipsilateral vocal cord because of involvement by the tumor of nerves and/ or muscle. Finally, the laryngeal structures, namely the Laryngeal Dysplasia Epidemiology/Pathogenesis Laryngeal dysplasia is the dysplastic change in the mucosa within any or all of the subsites of the larynx and can be Chapter 39: Unremitting Rough or Husky Voice Table 39. Associated symptoms include dysphagia, laryngeal pain, ipsilateral otalgia, and neck swelling. Examination Technique/Findings Flexible nasendoscopy shows an abnormal larynx and, in early-stage disease, there is an asymmetry between the affected side and the unaffected side. In advanced disease, there is a grossly abnormal larynx, which can be ulcerated with hyperkeratosis. It is of importance to note on flexible nasendoscopy the extent of the lesion and the mobility or otherwise of the vocal cords. This assessment in experienced hands may direct the clinician to underlying pathology. It should, however, be remembered that there may be a significant false positive rate.

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