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Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene

PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Clinical Short Communication Source Type: research

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This study allows us to assess selection criteria used in our hospital to determine which patients can undergo cataract surgery under topical anesthesia without the anesthesia team. This procedure lowers organizational constraints while still insuring patient safety. Some patients still probably need an anesthesiologist present, such as those with an unstable disease or risk of agitation, in order to optimize the medications administered during surgery. PMID: 29776768 [PubMed - as supplied by publisher]
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
Authors: Kim M, Eom Y, Song JS, Kim HM Abstract PURPOSE: To investigate the effects of cataract grade based on wide-field fundus imaging on macular thickness measured by spectral domain optical coherence tomography (SD-OCT) and its signal-to-noise ratio (SNR). METHODS: Two hundred cataract patients (200 eyes) with preoperative measurements by wide-field fundus imaging and macular SD-OCT were enrolled. Cataract severity was graded from 1 to 4 according to the degree of macular obscuring by cataract artifact in fundus photo images. Cataract grade based on wide-field fundus image, the Lens Opacity Classification S...
Source: Korean Journal of Ophthalmology : KJO - Category: Opthalmology Tags: Korean J Ophthalmol Source Type: research
CONCLUSIONS: Over the study period, the number of cataract surgeries increased, while the age of cataract patients decreased. Additionally, the number of cataract-related surgeries increased in relation to the number of patients. PMID: 29770637 [PubMed - as supplied by publisher]
Source: Korean Journal of Ophthalmology : KJO - Category: Opthalmology Tags: Korean J Ophthalmol Source Type: research
Authors: Kwon J, Sung KR Abstract PURPOSE: To evaluate outcomes and factors associated with surgical failure in patients who underwent combined phacoemulsification and Ahmed glaucoma valve (AGV) implantation. METHODS: This retrospective and longitudinal study enrolled 40 eyes (38 patients) that underwent combined phacoemulsification and AGV implantation. Visual acuity, intraocular pressure (IOP), and number of antiglaucoma medications were evaluated preoperatively and postoperatively. Complete success was defined as a last follow-up IOP of 6 to 21 mmHg without medication, qualified success as an IOP of 6 to 21 ...
Source: Korean Journal of Ophthalmology : KJO - Category: Opthalmology Tags: Korean J Ophthalmol Source Type: research
We report the case of a patient with Steinert disease showing an early onset ventricular dysfunction due to chronic right ventricular apical pacing, in which an epicardial left ventricular lead implantation was performed following the failure of the percutaneous attempt. As no relief in symptoms of heart failure, nor an improvement of left ventricular ejection fraction and reverse remodelling was observed six months later, the patient was addressed to the heart transplantation. PMID: 29770365 [PubMed - in process]
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Authors: Prasad Tharanga Jayasooriya RG, Dilshara MG, Neelaka Molagoda IM, Park C, Park SR, Lee S, Choi YH, Kim GY Abstract In the present study, we report that camptothecin (CPT) caused irreversible cell cycle arrest at the G2/M phase, and was associated with decreased levels of cell division cycle 25C (Cdc25C) and increased levels of cyclin B1, p21, and phospho-H3. Interestingly, the reactive oxygen species (ROS) inhibitor, glutathione, decreased CPT-induced G2/M phase arrest and moderately induced S phase arrest, indicating that the ROS is required for the regulation of CPT-induced G2/M phase arrest. Furthermore...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
To compare the effect of different laser pulse energy settings in femtosecond laser –assisted cataract surgery with that of standard phacoemulsification and no energy at all used on posterior capsule opacification (PCO) in vitro.
Source: Journal of Cataract and Refractive Surgery - Category: Opthalmology Authors: Tags: Laboratory science Source Type: research
To evaluate the changes in corneal higher-order aberrations (HOAs) after corneal wavefront-guided transepithelial photorefractive keratectomy (PRK) and small-incision lenticule extraction (SMILE).
Source: Journal of Cataract and Refractive Surgery - Category: Opthalmology Authors: Tags: Article Source Type: research
Authors: Li L, Wang Y, Xue C Abstract Purpose: As a secondary analysis, we reassess the association of initial congenital cataract surgery times, compliance to amblyopia therapy, and visual outcomes for a long-term follow-up in a secondary IOL implantation. Methods: Retrospective review of records of all infants with congenital cataracts who underwent secondary IOL implantation in the Eye and ENT Hospital of Fudan University from January 1, 2001, to December 31, 2007, and the minimum follow-up period was 5 years. Multiple regression analysis was used and the possible confounding factors were also analyzed to as...
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research
(University of Delaware) A team led by a University of Delaware researcher has identified the protein essential for eye lens development and clear vision. Without the protein, eyes will form cataracts; with it, lens cells are cleared and ready to see. The work is providing fundamental new knowledge on the basic underlying mechanisms involved in eye development.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news
More News: Ataxia | Brain | Cataracts | Charcot-Marie-Tooth Disease | Genetics | Neurology | Retinitis Pigmentosa | Spain Health