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  • Gilliam Rosa posted an update 1 week ago

    The aim of this study was to identify specific MRI characteristics of anterior ischaemic optic neuropathy (AION) and optic neuritis (ON) that would aid in the differentiation between these two diagnoses.

    We retrospectively analysed a consecutive case series including all patients with an MRI study of brain and orbit and the clinical diagnosis of either ON or AION. Linderalactone research buy We examined the scans for restricted diffusion of the optic nerve, optic sheath diameter, enhancement and location of enhancement of the optic nerve and distribution of the white matter lesions.

    Fifty patients met the inclusion criteria. We found an accuracy of 0.98 for the discrimination between AION and ON based solely on parameters extracted from MRI data. Dominance analysis to determine the most influential parameters showed that the enhancement pattern of the optic nerve and distribution of the white matter lesions had the biggest impact on the classification and led to a discrimination accuracy of 0.9 when used alone.

    In patients with an inconclusive clinical diagnosis, optic nerve enhancement pattern and distribution of white matter lesions can aid in the diagnosis and differentiation between AION and ON. Diffusion-weighted imaging did not add significant information to the diagnosis or help to differentiate between the two conditions.

    In patients with an inconclusive clinical diagnosis, optic nerve enhancement pattern and distribution of white matter lesions can aid in the diagnosis and differentiation between AION and ON. Diffusion-weighted imaging did not add significant information to the diagnosis or help to differentiate between the two conditions.

    To identify the mutation spectrum and genotype-phenotype correlations of

    (

    ) mutations in a Chinese cohort with congenital ectopia lentis (EL).

    Patients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype-phenotype correlation.

    A total of 131 probands of

    mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct

    mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22-42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017).

    This study extended the knowledge of the

    mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.

    This study extended the knowledge of the FBN1 mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.

    Recent studies have demonstrated adverse psychosocial and mental health disorders among children with ocular disorders. The mental health burden of children with simple congenital ptosis, however, is unknown. The purpose of this study was to compare the psychosocial and mental health findings of children with simple congenital ptosis with controls.

    The medical records of all children (<19 years) diagnosed with simple congenital ptosis from 1 January 1965 through 31 December 2004 while residing in Olmsted County, Minnesota were retrospectively reviewed for psychosocial and mental health morbidity. One-to-one randomly selected age-matched and gender-matched controls from the same population were similarly reviewed.

    81 children with ptosis were diagnosed at a mean age of 3.2 years (range, 1 month-16 years), 35 (43.2%) of whom were girls. An adverse psychosocial development was diagnosed in 41 (50.6%) patients with simple congenital ptosis monitored to a mean age of 21.4 years, compared with 26 (32.5%) controls (p=0.02). A mental illness was diagnosed in 31 (38.3%) patients with ptosis compared with 16 (20%) controls (p=0.01). Children with ptosis were 2.5 times more likely than controls to develop a mental illness and 2.1 times more likely to develop a psychosocial maladjustment. Patients with ptosis were also significantly more likely to have more mental health disorders (p=0.02) and a longer duration of psychotropic medication use (p=0.005).

    Children diagnosed with simple congenital ptosis in this population had significantly greater psychosocial and mental health morbidity compared with controls. Children with ptosis may benefit from early psychosocial intervention.

    Children diagnosed with simple congenital ptosis in this population had significantly greater psychosocial and mental health morbidity compared with controls. Children with ptosis may benefit from early psychosocial intervention.

    The purpose of this study was to evaluate the learning curve of robotic hysterectomy and pelvic lymphadenectomy for early-stage endometrial carcinoma.

    A retrospective chart review was performed on the first 81 surgeries performed by a single surgeon. The 81 cases were divided into three groups; 4 subgroups of 20 cases each, 3 subgroups of 27 cases each, and 2 subgroups of 40 cases each. The surgical outcomes in each group were analyzed, using operative time, estimated blood loss, and the number of lymph nodes resected.

    The median operating time, estimated blood loss, and number of pelvic lymph nodes were 147 min, 50 g and 23, respectively. The estimated blood loss improved over time significantly, when dividing by every 27 and 40 cases. No statistical significance was shown regarding operative time and the number of lymph nodes.

    Approximately, 30 cases were needed to gain proficiency in the surgical technique.

    Approximately, 30 cases were needed to gain proficiency in the surgical technique.