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Biomedical subjects

Alex V Levin

Publications and source records attributed to Alex V Levin.

45 records · Page 3Linked to original sources
PubMed2003

Development of a clinical severity score for preseptal cellulitis in children.

PURPOSE: There is a need for a valid and reliable method to describe the severity of preseptal cellulitis. METHODS: Items of a scoring system were derived by an expert group and evaluated using a retrospective chart review. The results were used to construct the final Severity Index. Validity and reliability of the Severity Index was evaluated by prospective assessment of 17 children. The Severity Index was compared with a Global Score, a score based on clinical impression. RESULTS: The average Severity Index score was 2.0 for patients treated with oral antibiotics alone and 6.0 for patients treated with intravenous antibiotics. The Severity Index correlated well with the Global Score (Spearman rank correlation coefficient rS = 0.60, P = 0.01). Ranked clinical photographs of preseptal cellulitis correlated moderately to the Severity Index (rS = 0.66, P = 0.02). The Severity Index score after 24 hours of treatment was significantly lower than at presentation (P = 0.004). The agreement between paired Severity Index scores [intraclass correlation coefficient (ICC) = 0.80, P = 0.001] was better than the agreement between paired Global Scores (ICC = 0.45, P = 0.03). CONCLUSIONS: The Severity Index is an objective clinical tool for evaluating severity of preseptal cellulitis in children. It correlates well with clinical constructs for severity and is sensitive to small changes in clinical status. It has better reliability than overall clinical impression. The Severity Index will also be valuable as an outcome measure for future therapeutic trials for preseptal cellulitis in children.

Administration, Oral↗
PubMed2002

Caruncle abnormalities in the oculo-auriculo-vertebral spectrum.

Goldenhar syndrome (GS) is a congenital disorder believed to be caused by the defective development of the first and second brachial arches and the first brachial clefts during the fourth through eighth weeks of embryologic development. It is characterized by epibulbar dermoids and/or lipodermoids, preauricular tags, pretragal fistulas, hemifacial microsomia, and vertebral anomalies. Other ocular and nonocular symptoms have also been described. To our knowledge there are only three previous reports of abnormal caruncles in GS. We have reviewed our experience with a consecutive series of seven GS patients with caruncular malformations. Caruncular abnormalities included dysplatic and/or bilobed caruncles (two cases), ectopic caruncles (three bilateral cases and one unilateral case), and ectopic plus dysplastic caruncles (one case). Our experience suggests that the incidence of caruncular malformations in GS anomalies is higher than previously reported. This may be clinically important in differentiating GS from other first- and second-arch syndromes. Additionally, linking abnormalities in the first and second months of gestation that cause the typical stigmata of GS with malformation of the caruncles, which normally develop in the third month of gestation, could provide clues to the pathogenesis of GS.

Abnormalities, Multiple↗
PubMed2002

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.

Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding and pulmonary fibrosis result from defects of melanosomes, platelet dense granules and lysosomes. HPS is common in Puerto Rico, where it is caused by mutations in the genes HPS1 and, less often, HPS3 (ref. 8). In contrast, only half of non-Puerto Rican individuals with HPS have mutations in HPS1 (ref. 9), and very few in HPS3 (ref. 10). In the mouse, more than 15 loci manifest mutant phenotypes similar to human HPS, including pale ear (ep), the mouse homolog of HPS1 (refs 13,14). Mouse ep has a phenotype identical to another mutant, light ear (le), which suggests that the human homolog of le is a possible human HPS locus. We have identified and found mutations of the human le homolog, HPS4, in a number of non-Puerto Rican individuals with HPS, establishing HPS4 as an important HPS locus in humans. In addition to their identical phenotypes, le and ep mutant mice have identical abnormalities of melanosomes, and in transfected melanoma cells the HPS4 and HPS1 proteins partially co-localize in vesicles of the cell body. In addition, the HPS1 protein is absent in tissues of le mutant mice. These results suggest that the HPS4 and HPS1 proteins may function in the same pathway of organelle biogenesis.

Amino Acid Sequence↗
PubMed2002

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

"Early-onset glaucoma" refers to genetically heterogeneous conditions for which glaucoma manifests at age 5-40 years and for which only a small subset is molecularly characterized. We studied the role of MYOC, CYP1B1, and PITX2 in a population (n=60) affected with juvenile or early-onset glaucoma from the greater Toronto area. By a combination of single-strand conformation polymorphism and direct cycle sequencing, MYOC mutations were detected in 8 (13.3%) of the 60 individuals, CYP1B1 mutations were detected in 3 (5%) of the 60 individuals, and no PITX2 mutations were detected. The range of phenotypic expression associated with MYOC and CYP1B1 mutations was greater than expected. MYOC mutations included cases of juvenile glaucoma with or without pigmentary glaucoma and mixed-mechanism glaucoma. CYP1B1 mutations involved cases of juvenile open-angle glaucoma, as well as cases of congenital glaucoma. The study of a family with autosomal dominant glaucoma showed the segregation of both MYOC and CYP1B1 mutations with disease; however, in this family, the mean age at onset of carriers of the MYOC mutation alone was 51 years (range 48-64 years), whereas carriers of both the MYOC and CYP1B1 mutations had an average age at onset of 27 years (range 23-38 years) (P=.001). This work emphasizes the genetic heterogeneity of juvenile glaucoma and suggests, for the first time, that (1) congenital glaucoma and juvenile glaucoma are allelic variants and (2) the spectrum of expression of MYOC and CYP1B1 mutations is greater than expected. We also propose that CYP1B1 may act as a modifier of MYOC expression and that these two genes may interact through a common pathway.

Adolescent↗
PubMed2002

Correlation between retinal abnormalities and intracranial abnormalities in the shaken baby syndrome.

PURPOSE: To report correlation between retinal and intracranial abnormalities and to evaluate pathogenesis of retinal hemorrhages in the shaken baby syndrome (SBS). DESIGN: Observational case series. METHODS: Seventy-five children with apparent nonaccidental head trauma consistent with SBS had complete physical examination, complete ophthalmologic examination, neuroimaging by CT or MRI, or both, and skeletal radiographic survey. In this retrospective review, ophthalmoscopic and intracranial abnormalities were correlated. RESULTS: The age of patients ranged from 2 to 48 months (mean - SD, 10.6 +/- 10.4 months). Neuroimaging was abnormal in all 75 cases. Findings included subdural hematoma (70 children, 93%), cerebral edema (33 children, 44%), subarachnoid hemorrhage (12 children, 16%), vascular infarction (nine children, 12%), intraparenchymal blood (six children, 8%), parenchymal contusion (six children, 8%), and epidural hemorrhage (one child, 1%). Sixty-four (64/75, 85%) children had retinal abnormalities, mostly (53/64, 82%) confluent multiple hemorrhages that were subretinal, intraretinal, and preretinal in 47/64 (74%) and bilateral in 52/64 (81%). No association was found between anatomic site (left, right, or bilateral) of intracranial and retinal findings (McNemar test kappa = -0.026-0.106) or between any of the intracranial findings mentioned above and the following retinal findings: normal or abnormal retinal examination, multiple (>10) or few retinal hemorrhages (< or =10), symmetric or asymmetric retinal findings, or retinoschisis (kappa = -0.127-0.104). Signs of possible increased intracranial pressure were not correlated with any retinal abnormality (kappa = -0.03-0.073). There was no correlation between evidence of impact trauma to the head and retinal hemorrhages (kappa = 0.058). Total Cranial Trauma Score and Total Retinal Hemorrhage Score, both indicating the severity of injury, were correlated (P =.032). CONCLUSIONS: Our study supports previous observations that the severity of retinal and intracranial injury is correlated in SBS. We cannot support the suggestions that in most children with SBS retinal bleeding is caused by sustained elevated intracranial, elevated intrathoracic pressure, direct tracking of blood from the intracranial space, or direct impact trauma. The correlation in severity of both eye and head findings may suggest, however, that retinal abnormalities are the result of mechanical shaking forces.

Battered Child Syndrome↗
PubMed2002

Retinal findings in children with intracranial hemorrhage.

PURPOSE: To identify the incidence of Terson's syndrome in children. DESIGN: Prospective, observational case series. PARTICIPANTS: Fifty-seven consecutive children with known intracranial hemorrhage from nonabuse causes. METHODS: Dilated fundus examination to detect intraretinal hemorrhages or other abnormalities. MAIN OUTCOME MEASURES: Presence or absence of intraretinal hemorrhages or other abnormalities. RESULTS: Fifty-five patients (96%) had no evidence of intraretinal or vitreous hemorrhage. Two patients had abnormal retinal examinations. One patient had a single dot hemorrhage associated with presumed infectious white retinal lesions. The second patient had three flame and two deeper dot intraretinal hemorrhages after a motor vehicle accident (1.5% incidence of retinal hemorrhage). CONCLUSIONS: Retinal hemorrhage is uncommon in children with intracranial hemorrhage not resulting from shaken baby syndrome. The maximal incidence of intraretinal hemorrhage in children with nonabuse intracranial hemorrhage is 8%.

Adolescent↗
PubMed2002

Ophthalmology of shaken baby syndrome.

Retinal hemorrhages are an important indicator of Shaken Baby syndrome. However, a thorough description which includes the number, type, and distribution pattern of hemorrhages can be useful in determining their specificity. In particular, numerous pre-retinal, intraretinal, and subretinal hemorrhages extending out to the edges of the retina and/or splitting of the retina (traumatic retinoschisis) seem to be particularly indicative of shaking with a very narrow differential diagnosis. Shaking appears to be a key element in creating hemorrhagic retinopathy.

Diagnosis, Differential↗
PubMed2002

Clinical assessment of conjunctival and episcleral vessel tortuosity in juvenile dermatomyositis.

PURPOSE: Conjunctival and episcleral vessel tortuosity are thought to be associated features of juvenile dermatomyositis. This study was conducted to determine the interobserver reliability of assessing normal and abnormal conjunctival and episcleral vessels from photographs of patients with and without juvenile dermatomyositis. METHODS: Color and red-free external ocular photographs of each eye of 28 children were assessed by 5 pediatric ophthalmologists from The Hospital for Sick Children. Fifteen of these pairs of photographs were of normal control eyes and 13 were from eyes of patients with juvenile dermatomyositis. On a standardized form each ophthalmologist was asked to determine whether both the conjunctival and episcleral vessels appeared normal or abnormal. Interobserver agreement was calculated by the weighted kappa statistic. The sensitivity and specificity of abnormal vessels for diagnosing juvenile dermatomyositis were also determined. RESULTS: Interobserver agreement for assessing conjunctival and episcleral vessels was 0.18 and -0.005, respectively. The average sensitivity and specificity of the evaluators for correctly assessing conjunctival vessels were 0.70 and 0.70, and for episcleral vessels, 0.67 and 0.47, respectively. CONCLUSIONS: There was low interobserver agreement in distinguishing between normal and abnormal eyes based on conjunctival and episcleral vessels. The sensitivity and specificity for identifying patients with juvenile dermatomyositis based on the appearance of vessels alone were relatively low. The appearance of conjunctival and episcleral vessels should be assessed in the context of other ocular and periocular findings of patients with juvenile dermatomyositis.

Adolescent↗