Malformations of Cortical Development in Patients With Mid line Facial Defects and Ocular Hypertelorism

Objectives: We studied the neuroimaging and neurophysiological aspects of 17 patients with midline facial defects with ocular hypertelorism (MFDH). Methods: The investigation protocol included a previous semistructured questionnaire about family history; gestational, neonatal, and postnatal development; and dysmorphologic and neurologic evaluation. Recognized monogenic disorders and individuals with other well-known conditions were excluded. All patients had high resolution magnetic resonance imaging (MRI) with multiplanar reconstruction (MPR) and routine electroencephalograms (EEGs). Results: We detected abnormalities in five patients whose MRIs had been previously reported as normal. MRI showed central nervous system (CNS) structural abnormalities in all patients, which included commissural alterations in 16/17 (94%), malformations of cortical development in 10/17 (58%), disturbances of neural tube closure in 7/17(42%), and posterior fossa anomalies in 6/17 (35%). Some patients had more than one type of malformation occurring at different stages of the embryonary process. EEGs showed epileptiform activity in 4/17 (24%) and background abnormalities in 5/17 (29%) of patients. Conclusion: This study clearly demonstrated the presence of structural and functional neurologic alterations related to MFDH. Therefore, the CNS anomalies cannot be considered incidental findings but an intrinsic part of this condition, which could be related to environmental effects and/or genetic mutations. These findings would provide a basis for future investigations on MFDH and should also be considered when planning rehabilitation.

The relation of triceps surae surgical lengthening and crouch gait in patients with cerebral palsy

To investigate the effect of earlier triceps surae (TS) surgical lengthening at knee kinematics in the stance phase in patients with cerebral palsy (CP). One thousand and thirty-nine participants from an eligible total of 1750 children with CP were referred to gait analysis laboratory from January 2000 to April 2007. Inclusion criteria were the diagnosis of diparetic spastic CP levels I to III (GMFCS) and complete kinematics documentation. Patients with an asymmetrical knee pattern at kinematics and with different types of TS management among sides were excluded. The patients were divided into two groups according to the mean minimum knee flexion (MMKF) in stance phase: group A (n = 253) MMKF >= 30 degrees and group B (n = 786) MMKF less than 30 degrees. For each group, the occurrence of following procedures for TS in the past: (i) earlier surgery, (ii) gastrocnemius lengthening (zone I), (iii) gastrocnemius and soleus lengthening (zone II), and (iv) calcaneous tendon lengthening (zone III), was investigated. A chi(2) test was applied to check if the number of procedures performed was different between groups. The level of significance was defined as P value of less than 0.05. The number of patients with no earlier surgeries at TS was higher in group B (51.8%) than in group A (39.1%), and this difference was significant (P<0.01). In addition, the number of procedures at the calcaneous tendon was more elevated in group A (36.8%) than in group B (27%), and this finding was statistically significant as well (P<0.02). The percentage of surgical lengthening at zones I and II was very similar between the groups A and B. This study has shown that patients without earlier surgical procedures at TS are more susceptible to reach better extension of the knees in the stance phase. Patients in a crouch gait had a higher number of calcaneous tendon lengthening performed in the past than patients with a more normal knee extension in the stance phase. J Pediatr Orthop B 19:226-230 (C) 2010 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

Factors associated with pelvic asymmetry in transverse plane during gait in patients with cerebral palsy

The purpose of this study was to describe the patterns of pelvic rotational asymmetry in the transverse plane and identify the possible factors related to this problem. One thousand and forty-five patients with cerebral palsy (CP) and complete documentation in the gait laboratory were reviewed in a retrospective study. Pelvic asymmetry in the transverse plane was observed in 52.7% of the patients; and to identify the possible causes of pelvic retraction, clinical (Thomas test, popliteal angle, and gastrocnemius tightness) and dynamic parameters (mean rotation of the hip in stance, minimum hip flexion, minimum knee flexion, and peak ankle dorsiflexion) were evaluated. The association between these parameters and pelvic retraction was assessed statistically. The results showed that 75.7% of patients with asymmetric pattern of the pelvis had clinical diagnosis of diplegic spastic CP. Among the patients with asymmetrical CP, the most common pattern was pelvic retraction on the affected side. The relationship between pelvic retraction and internal hip rotation was stronger in patients with asymmetrical diplegic CP than in those with hemiplegic (P<0.001) or symmetrical diplegic CP (P=0.014). All of the patients exhibited a significant association among clinical parameters (Thomas test, popliteal angle, and gastrocnemius tightness) and pelvic retraction. In conclusion, pelvic retraction seems to be a multifactorial problem, and the etiology can change according to topographic classification, which must be taken into account during the decision-making process in patients with CP. J Pediatr Orthop B 18:320-324 (C) 2009 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

Clinical Treatment of Ocular Demodex folliculorum by Systemic Ivermectin

PURPOSE: To report clinical outcomes of the treatment of ocular Demodex folliculorum with oral ivermectin. DESIGN: Noncomparative, interventional case series. METHODS: Setting. Institutional. Study Population. Twenty-four eyes of 12 patients (3 male and 9 female; mean age +/- standard deviation, 50.4 +/- 21.0 years) with refractory posterior blepharitis with the presence of D. folliculorum in lash samples were enrolled in this study. Intervention. Patients were instructed to take 1 dose of oral ivermectin (200 mu g/kg). All patients were instructed to repeat the treatment after 7 days. Main outcome measures. Tear meniscus height, Schirmer I test results, noninvasive tear film break-up time (BUT), quantification of the absolute number of D. folliculorum found in the lashes, and corneal fluorescein and rose bengal staining scores were obtained from all patients 1 day before and 28 days after treatment. RESULTS: Statistical improvement was observed in the absolute number of D. folliculorum found in the lashes after the treatment with oral ivermectin. Average values of Schirmer I test results and tear film break-up time improved statistically after the treatment of oral ivermectin. No statistical improvement was observed in average lacrimal meniscus height or value of corneal fluorescein and rose bengal staining after treatment with oral ivermectin. CONCLUSIONS: Ivermectin successfully reduced the number of D. folliculorum found in the lashes of patients with refractory blepharitis. Oral ivermectin may be very useful as a complement in the treatment of D. folliculorum infestation with ocular manifestation, especially in cases of unsuccessful treatment related to patient compliance. (Am J Ophthalmol 2011;151:1030-1034. (C) 2011 by Elsevier Inc. All rights reserved.)

Are the recommendations from three-dimensional gait analysis associated with better postoperative outcomes in patients with cerebral palsy?

This study was performed to check if recommendations based on three-dimensional gait analysis (3DGA) are associated with better postoperative outcomes in patients with cerebral palsy (CP). Thirty-eight patients who underwent orthopedic surgery and assessment at the Gait Analysis Laboratory were evaluated retrospectively. The patients were divided in four groups according to the agreement between the recommendations from gait analysis and the procedures actually carried out. Fifteen patients with diplegic spastic cerebral palsy and indication for orthopedic surgery to improve walking - and whose surgical intervention was postponed - were also included in the study as a control group. Fourteen gait parameters recorded before and after treatment, were included in the statistical analysis. No gait improvement was noted in the control group or inh patients on whom no procedures recommended by the gait exam were performed (agreement of 0%). In the other groups, agreements averaged 46.71%, 72.2%, and 100%, respectively. Improvement of gait parameters after treatment was observed in these groups, with more significant values directly related to increased agreement percentage. Therefore, in this study the patients whose treatment matched the recommendations from three-dimensional gait analysis showed a more significant improvement in walking. (c) 2008 Elsevier B.V. All rights reserved.

A reassessment of the in vitro RBC haemolysis assay with defibrinated sheep blood for the determination of the ocular irritation potential of cosmetic products: Comparison with the in vivo Draize rabbit test

We examined the correlation between results obtained from the in vivo Draize test for ocular irritation and in vitro results obtained from the sheep red blood cell (RBC) haemolytic assay, which assesses haemolysis and protein denaturation in erythrocytes, induced by cosmetic products. We sought to validate the haemolytic assay as a preliminary test for identifying highly-irritative products, and also to evaluate the in vitro test as alternative assay for replacement of the in vivo test. In vitro and in vivo analyses were carried out on 19 cosmetic products, in order to correlate the lesions in the ocular structures with three in vitro parameters: (i) the extent of haemolysis (H50); (ii) the protein denaturation index (131); and (iii) the H50/DI ratio, which reflects the irritation potential (IP). There was significant correlation between maximum average scores (MAS) and the parameters determined in vitro (r = 0.752-0.764). These results indicate that the RBC assay is a useful and rapid test for use as a screening method to assess the IP of cosmetic products, and for predicting the IP value with a high level of concordance (94.7%). The assay showed high sensitivity and specificity rates of 91.6% and 100%, respectively.

Graves` orbitopathy: frequency of ocular hypertension and glaucoma

Purpose To determine the relationship between ocular hypertension and glaucoma in patients with Graves` orbitopathy. Methods A total of 107 patients with a diagnosis of Graves` orbitopathy, followed at the Oculoplasty sector of the University Hospital, Medical School of Ribeirao Preto, were evaluated by applanation tonometry, computed visual campimetry (Humphrey 30-2, Full Threshold) and analysis and photographic documentation of the optic nerve. The patients considered to have the suspicion of glaucoma were re-evaluated 1 year later for diagnostic confirmation or exclusion. Results A 3.74% prevalence of ocular hypertension (four patients) and a 2.8% prevalence of glaucoma (three patients) was observed. When considering only patients older than 40 years, the prevalence of ocular hypertension was 5.4% (four patients) and the prevalence of glaucoma was 4.76% (three patients). Conclusion The present study did not reveal a statistically significant difference in the prevalence of ocular hypertension or glaucoma between patients with Graves` orbitopathy and the general population.

Mothers of children with cerebral palsy with or without epilepsy: a quality of life perspective

Methods. aEuro integral Thirty mothers of disabled children participated in the study. The control group comprised of 18 healthy mothers of children without disabilities. All mothers agreed to participate in the study. They completed the evaluation forms of the SF-36 health survey, a well-documented, self-administered QOL scoring system. Results. aEuro integral The results of our study support the premise that mothers of children with CP, as a group, have poorer QOL than mothers of not disabled children. Conclusions. aEuro integral We also observed that mothers of children with CP and epilepsy have poorer QOL than mothers of children with CP without epilepsy.

Spontaneous Eyeblink Activity

Spontaneous blinking is essential for maintaining a healthy ocular surface and clarity of vision. The spontaneous blink rate (SBR) is believed to reflect a complex interaction between peripheral influences mediated by the eye surface and the central dopaminergic activity. The SBR is thus extremely variable and dependent on a variety of psychological and medical conditions. Many different methods have been employed to measure the SBR and the upper eyelid kinematics during a blink movement. Each has its own merits and drawbacks, and the choice of a specific method should be tailored to the specific needs of the investigation. Although the sequence of muscle events that leads to a blink has been fully described, knowledge about the neural control of spontaneous blinking activity is not complete. The tear film is dynamically modified between blinks, and abnormalities of the blink rate have an obvious influence on the ocular surface.

Co-existing squamous cell carcinoma and hemangioma on the ocular surface of a cat

A 14-year-old spayed female domestic short-haired cat was presented for evaluation of a mass in the right eye. Ophthalmic examination revealed a blind right eye and presence of two distinct masses: a pink and a red-to-brown mass, the latter occupying most of the cornea and part of the conjunctiva. Exenteration was performed under general anesthesia, and the ocular tissues were processed routinely for histopathology. Upon microscopic examination, a malignant epithelial neoplasm and a benign vascular neoplasm were present in the cornea. The conjunctiva and the third eyelid were also affected. Upon immunohistochemistry, the epithelial tumor was positive for cytokeratin and negative for vimentin and the endothelial tumor was negative for cytokeratin and positive for vimentin. A diagnosis of squamous cell carcinoma (SCC) and hemangioma was made. The SCC was affecting the cornea, bulbar conjunctiva (lateral and inferior) and the base of the third eyelid, whereas the hemangioma was affecting the cornea and medial limbus. To the authors` knowledge, this is the first report of concomitant SCC and hemangioma affecting the ocular surface in a cat.

Untreated dental caries in children with cerebral palsy in the Brazilian context

Objectives. To assess the prevalence of untreated dental caries in children with cerebral palsy and to assess socio-demographic, behavioural, and clinical covariates. Design. Cross-sectional assessment of 200 children and adolescents with cerebral palsy (2-17 years old) enrolled in a specialized healthcare unit in Sao Paulo, Brazil. The dental examination followed the World Health Organization`s guidelines for oral health surveys; familial caretakers informed on socio-economic status and behaviour; the patient`s medical record informed their clinical status. Results. The proportion of children that presented at least one tooth affected by untreated caries was 49.5%. Poor socio-economic standings and a higher frequency of sugar consumption associated with a worse profile of dental health; different types of cerebral palsy (spastic, tetraparesis) did not. The prevalence of untreated caries was higher than reference values assessed for the overall population of the same age range. Conclusions. The high burden of untreated dental caries on cerebral palsy patients reinforces the importance of the dentist in the interdisciplinary healthcare team attending these children. Factors associated with this outcome are the same for the general population; these findings underscore the necessity of implementing effective caries prevention in this population of cerebral palsy children.

Deletion 5q12: Delineation of a Phenotype Including Mental Retardation and Ocular Defects

Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of correlating genotype to phenotype and mapping minimal critical regions associated with particular patterns of clinical features. We report here on four patients sharing common clinical features (psychomotor retardation, coarse facies and ocular anomalies), with proximal 5q deletions identified by oligo array-CGH. The deletions range from 5.75 to 17.26-Mb in size and occurred de novo. A common 2.63-Mb region between the deletions described here can be defined in 5q12.1 (59,390,122-62,021,754 bp bp from 5pter, hg18) and includes 12 genes. Among them, KIF2A, which encodes a kinesin superfamily protein, is a particularly interesting candidate for the phenotype, as it suppresses the growth of axonal collateral branches and is involved in normal brain development. Ocular defects, albeit unspecific, seem to be common in the 5q12.1 deletion. Identification of additional cases of deletions involving the 5q12.1 region will allow more accurate genotype-phenotype correlations. (C) 2011 Wiley-Liss, Inc.

REACTIVE OXYGEN SPECIES AND THE STRUCTURAL REMODELING OF THE VISUAL SYSTEM AFTER OCULAR ENUCLEATION

Redox processes associated with controlled generation of reactive oxygen species (ROS) by NADPH oxidase (Nox) add an essential level of regulation to signaling pathways underlying physiological processes. We evaluated the ROS generation in the main visual relays of the mammalian brain, namely the superior colliculus (SC) and the dorsal lateral geniculate nucleus (DLG), after ocular enucleation in adult rats. Dihydroethidium (DHE) oxidation revealed increased ROS generation in SC and DLG between 1 and 30 days postlesion. ROS generation was decreased by the Nox inhibitors diphenyleneiodonium chloride (DPI) and apocynin. Real-time PCR results revealed that Nox 2 was upregulated in both retinorecipient structures after deafferentation, whereas Nox 1 and Nox 4 were upregulated only in the SC. To evaluate the role of ROS in structural remodeling after the lesions, apocynin was given to enucleated rats and immunohistochemistry was conducted for markers of neuronal remodeling into SC and DLG. Immunohistochemical data showed that ocular enucleation produces an increase of neurofilament and microtubule-associated protein-2 immunostaining in both SC and DLG, which was markedly attenuated by apocynin treatment. Taken together, the findings of the present study suggest a novel role for Nox-induced ROS signaling in mediating neuronal remodeling in visual areas after ocular enucleation. (C) 2010 IBRO. Published by Elsevier Ltd. All rights reserved.

Does the neuromotor abnormality type affect the salivary parameters in individuals with cerebral palsy?

Background: Previous studies reported alterations in salivary flow rate and biochemical parameters of saliva in cerebral palsy (CP) individuals; however, none of these considered the type of neuromotor abnormality among CP individuals, thus it remains unclear whether the different anatomical and extended regions of the brain lesions responsible for the neurological damage in CP might include disruption of the regulatory mechanism of saliva secretion as part of the encephalopathy. The aim of this study was to evaluate salivary flow rate, pH and buffer capacity in saliva of individuals with CP, aged 3-16 years, with spastic neuromotor abnormality type and clinical patterns of involvement. Methods: Sixty-seven individuals with CP spasticity movement disorder, were divided in two groups according to age (3-8- and 9-16-years-old) and compared with 35 sibling volunteers with no neurological damage, divided in two groups according to age (3-8- and 9-16-years-old). Whole saliva was collected under slight suction and pH and buffer capacity were determined using a digital pHmeter. Buffer capacity was measured by titration using 0.01N HCL, and flow rate was calculated in ml/min. Results: In both age groups studied, whole saliva flow rate, pH and buffer capacity were significantly lower in the spastic CP group (P < 0.05). The clinical patterns of involvement did not influence the studied parameters. Conclusion: These findings show that individuals with spastic cerebral palsy present lower salivary flow rate, pH and buffer capacity that can increase the risk of oral disease in this population.

Orbital abscess after facial trauma

This paper reports a rare case of acute severe orbital abscess manifested 2 days after a facial trauma without bone fracture in a 20-year-old Afro-American female. The symptoms worsened within the 24 h prior to hospital admission resulting in visual disturbances such as diplopia and photophobia. The clinical findings at the first consultation included fever, periorbital swelling and redness, ptosis, proptosis and limitation of ocular movements upwards, downwards, to the right and to the left. Computed tomography scan showed proptosis with considerable soft tissue swelling on the left side and no fracture was evidenced in the facial skeleton, including the zygomatic-orbital complex. After hospital admission and antibiotic therapy intravenously the patient was conducted to the operation room and submitted to incision and drainage under general anesthesia. The orbit was approached thorough both eyelids and the maxillary sinus was reached only through the Caldwell-Luc approach. The postoperative period was uneventful and the rapid improvement of symptoms was remarkable. Visual acuity and ocular motility returned to the normal ranges within 2 days after the surgical intervention. After 12 postoperative days, the patient presented with significative improvement in the ptosis and proptosis, and acceptable scars.