Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing.

We describe the rare cases of kEDS in Korean siblings with two novel compound heterozygous variants, c.926_934del (p.Leu309_Leu311del) and c.2170_2172del (p.Phe724del) in the PLOD1 gene. They had congenital hypotonia, joint laxity, skin hyperextensibility, Marfanoid habitus, high myopia and atrophic scarring. The younger sibling had an early-onset progressive kyphoscoliosis, while the older sibling showed mild scoliosis during childhood. Intrafamilial variability of the clinical severity and age of kyphoscoliosis onset observed in our cases. PMID: 32174067 [PubMed - in process]
Source: Journal of Korean Medical Science - Category: Biomedical Science Tags: J Korean Med Sci Source Type: research

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The objective in this article is to summarize studies on cervical scoliosis, identify clinical problems, and provide directions for researchers interested in delving deep into this specific topic. In this review, we found that the lack of standard classification system could lead to an absence of clinical guidance; in addition, the osseous landmarks and vascular distributions could be variable in CD patients, which might cause the risk of vascular or neurological complications; furthermore, multiple deformities were usually presented in CD patients, which might cause chain reaction after the correction of CD; this would pr...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
Abstract To evaluate the clinical significance of spinal decompression and fusion for lumbar spinal stenosis in old patients under Roussouly classification, 160 old patients (>60 year old) with lumbar spinal stenosis underwent spinal decompression, and fusion were retrospectively studied. According to Roussouly classification, patients were divided into 4 groups, in which Roussouly types I, II, and IV were the nonstandard group and Roussouly type III was the standard group. Visual analog scale (waist, leg) and Oswestry disability index (ODI) scores were recorded before operation and at the final follow-up. All ...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
ABSTRACT Purpose: To investigate periostin and collagen I expression during a scleral remodeling in myopic eyes and to determine their role in collagen remodeling of the myopic sclera. Methods: Fifty one-week-old guinea pigs were divided into the control and form-deprivation myopia (FDM) groups. The eyes of animals in the form-deprivation myopia group were covered for 2, 4, and 8 weeks, or were covered for 4 weeks and then uncovered for 2 weeks. The diopters and axial lengths in the eyes in each group of guinea pigs were measured. Immunohistochemistry and reverse transcription polymerase chain reaction were used to detect ...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
The aim of this study was to evaluate the clinical and imaging results of transforaminal debridement with a posterior-only approach involving placement of an interbody bone graft combined with diseased vertebral fixation for the treatment of thoracic and lumbar tuberculosis (TB) with a minimum 5-year follow-up. Sixty-five patients who presented with active thoracic and lumbar TB between October 2006 and August 2013 were retrospectively analyzed: 20 were thoracic TB (group A), 17 were thoracolumbar TB (group B), and 28 were lumbar TB (group C). The patient data, operating time, blood loss, Visual Analog Scale score, Oswe...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant hereditary collagen disease caused by a defect or deficiency in the pro- α1 chain of type III procollagen encoded by the COL3A1 gene. Patients...
Source: BMC Pulmonary Medicine - Category: Respiratory Medicine Authors: Tags: Case report Source Type: research
To describe a pattern of combined exotropia and hypotropia in patients with unilateral high myopia and to suggest a surgical approach for their management.
Source: Journal of AAPOS - Category: Opthalmology Authors: Tags: Major Article Source Type: research
AbstractIntroductionThe lateral lumbar interbody fusion (LLIF) is a safe and effective technique to treat a vast range of lumbar disorders. However, the technique is also burdened by some problems. A new approach to the lateral lumbar interbody fusion was devised to solve or reduce some of the problems regarding the lateral approach. Its principal difference from the standard LLIF relies on positioning the patient in a prone decubitus, which might lead to an increase in the intradiscal lordosis.MethodsA retrospective, multicentric, non-randomized study to evaluate segmental and regional lordosis following prone transpsoas ...
Source: European Spine Journal - Category: Orthopaedics Source Type: research
Conclusion: Choroidal ganglioneuroma is rare. To our knowledge, no bilateral cases have been described in the literature. Major clinical features include a rapid increase in axial length, diffuse choroidal thickening, hyper-reflectivity in the choroid on optical coherence tomography, and loss of choroidal vasculature on ICGA. The current report provides multimodal imaging of choroidal ganglioneuroma for the first time and can be valuable for early diagnosis. PMID: 32454990 [PubMed]
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research
Authors: Xiong F, Tu J, Mao T, Yu L, Lin N, Liao H Abstract Myopia is a common cause of visual impairment worldwide. Choroidal thickness (ChT) reflects the characteristic changes in myopic children and may be used as an important index of myopia. The purpose of this study was to investigate ChT and its distribution across the posterior pole in young myopic Chinese patients using enhanced depth imaging optical coherence tomography (EDI-OCT) and to explore the factors associated with it. A total of 402 myopic Chinese patients aged 6-16 years who underwent complete ophthalmic examinations, including those for axial le...
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research
Conclusion: Significant differences in relative peripheral refraction were found between the atropine group and its controls. The findings suggested that the eyes that received atropine may have a less prolate shape and thus explain why using atropine is effective in controlling myopia progression. PMID: 32454988 [PubMed]
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research
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