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1.
Am J Med Genet A ; : e63635, 2024 Apr 18.
Article in English | MEDLINE | ID: mdl-38634625

ABSTRACT

Mucopolysaccharidosis type 10 is caused by biallelic variants in ARSK, which encodes for a lysosomal sulfatase. To date, seven patients with a mild phenotype resembling spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia have been described. In this report, we present two novel ARSK variants and report clinical and radiological findings of three patients. The patients' initial complaints were hip or knee pain and a waddling gait. All patients showed normal intelligence, normal hearing and eye examinations, and none had organomegaly. While typical dysostosis multiplex findings were not observed, mild platyspondyly with anterior beaking of some vertebral bodies, irregular vertebral endplates, wide ribs, inferior tapering of the ilea with a poorly developed acetabulum, irregularity of the central part of the femoral head, delayed ossification of the carpals were noted. Remarkably, all patients showed metaphyseal striation of the long bones, a crucial diagnostic clue to identify ARSK-related MPS type 10. Interestingly, vertebral involvement regressed during follow-up. On the other hand, hip dysplasia progressed in all patients. In conclusion, this study provides valuable long-term results on a recently discovered form of MPS.

3.
Klin Monbl Augenheilkd ; 241(1): 75-83, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38242135

ABSTRACT

Cataract is among the leading causes of visual impairment worldwide. Innovations in treatment have drastically improved patient outcomes, but to be properly implemented, it is necessary to have the right diagnostic tools. This review explores the cataract grading systems developed by researchers in recent decades and provides insight into both merits and limitations. To this day, the gold standard for cataract classification is the Lens Opacity Classification System III. Different cataract features are graded according to standard photographs during slit lamp examination. Although widely used in research, its clinical application is rare, and it is limited by its subjective nature. Meanwhile, recent advancements in imaging technology, notably Scheimpflug imaging and optical coherence tomography, have opened the possibility of objective assessment of lens structure. With the use of automatic lens anatomy detection software, researchers demonstrated a good correlation to functional and surgical metrics such as visual acuity, phacoemulsification energy, and surgical time. The development of deep learning networks has further increased the capability of these grading systems by improving interpretability and increasing robustness when applied to norm-deviating cases. These classification systems, which can be used for both screening and preoperative diagnostics, are of value for targeted prospective studies, but still require implementation and validation in everyday clinical practice.


Subject(s)
Cataract , Lens, Crystalline , Phacoemulsification , Humans , Prospective Studies , Photography/methods , Cataract/diagnosis , Visual Acuity , Phacoemulsification/methods
4.
Ophthalmol Ther ; 13(3): 791-800, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38244181

ABSTRACT

INTRODUCTION: The aim of this study was to analyze posterior surface opacification in explanted silicone intraocular lenses (IOLs) with clinicopathologic correlation to asteroid hyalosis. METHODS: In a laboratory setup, 12 explanted silicone IOLs underwent laboratory analyses, including light microscopy, scanning electron microscopy (SEM), and energy-dispersive X-ray spectroscopy for elemental composition (EDX). Relevant clinical data were obtained for each case, including gender, age at IOL implantation, dates of implantation and explantation, as well as history of neodymium-dopped yttrium aluminum garnet (Nd:YAG) laser treatments or other opacification removal attempts. High-resolution optical coherence tomography (OCT) images were obtained in vitro with an anterior segment OCT device (Anterion, Heidelberg Engineering, Heidelberg, Germany). RESULTS: Calcification located at the posterior optic surface of each lens was identified through SEM and EDX analyses, revealing deposits composed of hydroxyapatite. In all cases, IOL polishing using Nd:YAG laser had been attempted prior to IOL exchange. The clinical functional data showed that this type of IOL opacity led to increase in straylight and subjective symptoms of glare. CONCLUSIONS: Silicone IOLs can develop posterior surface calcification in eyes with asteroid hyalosis. There are mechanical techniques of cleaning the IOL surface but in many cases, IOL explantation is the only sustainable way to reduce the patients' straylight levels and glare symptoms. Due to the risk of posterior surface calcification, silicone IOL implantation should be avoided in eyes with asteroid hyalosis.

5.
Eye Vis (Lond) ; 10(1): 49, 2023 Dec 12.
Article in English | MEDLINE | ID: mdl-38082420

ABSTRACT

BACKGROUND: Chromatic aberration of the eye results from the dispersion of polychromatic light at the interfaces of ocular media. An intraocular lens (IOL) based approach utilizing the diffractive-multifocal principle has been proposed for its correction, but the clinical evidence on the impact of reducing or increasing chromatic aberration on the visual quality of pseudophakic patients remains scarce. METHODS: In this cross-sectional study, longitudinal chromatic aberration (LCA) effects were studied monocularly in 37 patients implanted with a monofocal lens. LogMAR corrected distance visual acuity (VA) and defocus curve at the + 1.0 D to - 2.0 D range were assessed. Contrast sensitivity (CS) was evaluated at far and at four spatial frequencies. Measurements were performed with the eye's natural conditions, as well as with increased and corrected (by the same amount) LCA, which was altered by introducing zero-power trial triplets. RESULTS: The mean (± standard deviation) logMAR VA was - 0.11 ± 0.07 for the natural condition, - 0.13 ± 0.07 for the LCA-corrected eye, and - 0.06 ± 0.08 for the eye with increased LCA. A sharp decline of the defocus tolerance was found after the LCA correction with the VA value of 0.38 ± 0.15 logMAR at - 1.5 D. However, for the natural and increased LCA, it was 0.32 ± 0.16 logMAR and 0.25 ± 0.13 logMAR, respectively. CS was improved at all spatial frequencies after the LCA correction, which was closely followed by the natural-eye performance. Increased LCA resulted in reduced CS, mainly at higher spatial frequencies. CONCLUSIONS: We demonstrated that elevating chromatic aberration above the natural level of monofocal patients extends their depth of focus while causing a measurable albeit minimal reduction in visual function. Still, the observed changes indicate that neither correction nor increase of LCA yields a substantial clinical effect on distance VA and CS in monofocal pseudophakia.

6.
Article in English | MEDLINE | ID: mdl-38131337

ABSTRACT

OBJECTIVE: This study aimed to evaluate the diagnosis and treatment preferences of orthopedic surgeons in developmental dysplasia of the hip (DDH) cases under the age of 1 in Türkiye with a higher incidence of DDH, estimated to be around 5-15 per 1000 live births. METHODS: This was a nationwide cross-sectional survey. A link for the online survey, including 16 multiple-choice questions, was sent to the email group of the National Orthopedic Society. RESULTS: Among 233 filled-out surveys, 211 met the inclusion criteria. Half of the participants had experience of <10 years as orthopedic surgeons, managed <25% of pediatric patients in daily practice, and treated <25 DDH cases per year before walking age. Ninety-seven percent used more than one method, hip ultrasound the most common, for exact diagnosis of DDH under 6 months. Pavlik harness was the most commonly preferred brace, but the use of Tübingen orthosis increased among experienced surgeons. The uppermost age limit for bracing was higher in surgeons dealing with more pediatric patients and treating more DDH cases. Dislocated hips and hips requiring closed/open reduction were more commonly referred to other surgeons by less experienced surgeons in terms of years, number of pediatric patients, and treated DDH cases per year. The lowest age limit for intervention under general anesthesia was lower in surgeons treating >25 DDH cases per year. Over one-third used both anterior and medial approach open reduction, but a trend to anterior open reduction alone was more evident in surgeons treating >50 DDH cases per year. More experienced surgeons were more prone to check the intraoperative reduction with postoperative computed tomography or magnetic resonance imaging. Diagnosis and treatment ages of DDH cases did not significantly change during the coronavirus disease 2019 pandemic. CONCLUSION: Management preferences of orthopedic surgeons in DDH before walking age primarily depend on the rate of pediatric patients in daily practice and the number of treated DDH cases per year.

7.
Eur J Ophthalmol ; : 11206721231204382, 2023 Sep 26.
Article in English | MEDLINE | ID: mdl-37750504

ABSTRACT

PURPOSE: We evaluated implantation behavior and injector damage of two different IOL injector systems, the Multisert and the AutonoMe. DESIGN: Prospective, randomized, comparative study with laboratory investigation. METHODS: We examined used injectors from 48 bilateral cataract cases and assessed video recordings of each Implantation. All eyes were intraindividually randomized for treatment with one of the two IOL injectors. Implantation videos were reviewed for inadvertent events and the time for different implantation steps was determined. The injector nozzle tips were examined using light and scanning electron microscopy (SEM). Damage was graded using the Heidelberg Score for IOL injector damage (HeiScore). Three months postoperatively, IOLs were assessed for material changes. RESULTS: Implantation was without critical events in 96 of 96 eyes. Mean implantation time was 41.90 ± 7.11 s with the Multisert and 52.22 ± 12.06 s with the AutonoMe. In the AutonoMe group, we observed 4 eyes (8.3%) with a failed docking attempt, 28 eyes (58.3%) with a haptic adherence, one case (2.1%) of straight leading haptic and 2 cases (4.2%) of intrawound IOL manipulation. There were no events observed in the Multisert group. The mean HeiScore values were 0.87 ± 0.61 and 3.68 ± 0.47 for the AutonoMe and Multisert. 3 months postoperatively, IOL material changes were absent. CONCLUSIONS: Both injectors allowed safe and controlled implantation. Using Multisert, implantation behavior was more consistent. The injectors showed different damage profiles with a higher damage score for the Multisert.The study is registered at the German Clinical Trials Register (Deutsches Register Klinischer Studien; reference number: DRKS00007837).

8.
Klin Monbl Augenheilkd ; 240(8): 944-951, 2023 Aug.
Article in English, German | MEDLINE | ID: mdl-37567232

ABSTRACT

BACKGROUND: Keratoconus is a bilateral, yet asymmetric disease. In rare cases, the second eye may show no signs of tomographic changes. The purpose of this study was to analyze the biomechanical characteristics in tomographically regular keratoconus fellow eyes. MATERIALS AND METHODS: This retrospective, consecutive case series analyzed 916 eyes of 458 patients who presented to our keratoconus clinic between November 2020 and October 2022. Primary outcome measures included best-corrected visual acuity (BCVA), tomographic Scheimpflug analysis using Pentacam AXL (Oculus, Wetzlar, Germany), and biomechanical assessment using Corvis ST (Oculus, Wetzlar, Germany). Tomographic changes were assessed via analysis of the anterior and posterior curvature, K-max, thinnest corneal thickness (TCT), the Belin/Ambrosio Deviation Display (BAD-D), and the ABCD-Grading. Biomechanical changes were analyzed using Corvis Biomechanical Index (CBI) and Tomographic Biomechanical Index (TBI). RESULTS: Of 916 eyes, 34 tomographically regular fellow eyes (7.4%) were identified and included in the analysis. Overall, the mean BCVA was - 0.02 ± 0.13 logMAR. Tomographic analysis showed mean K-max of 43.87 ± 1.21 D, mean TCT of 532 ± 23 µm, and mean BAD-D of 1.02 ± 0.43. Biomechanical analysis demonstrated mean CBI of 0.28 ± 0.26 and mean TBI of 0.34 ± 0.30. While normal CBI-values were observed in 16 (47%) of 34 eyes, only 13 eyes (38%) showed a regular TBI and only 7 eyes (21%) showed regular TBI and CBI. The sensitivity of CBI and TBI to detect a tomographically normal keratoconus fellow eye was 53% and 62%, respectively. CONCLUSION: A highly asymmetric corneal ectasia with regular tomographic finding in a fellow eye is rare among keratoconus patients. In such cases, a biomechanical analysis may be useful in detecting early signs of corneal ectasia. In our analysis, the TBI showed high sensitivity for detecting a biomechanical abnormality in tomographically regular fellow eyes.


Subject(s)
Keratoconus , Humans , Keratoconus/diagnostic imaging , Cornea/diagnostic imaging , Retrospective Studies , Corneal Topography/methods , Corneal Pachymetry , Dilatation, Pathologic , ROC Curve , Biomechanical Phenomena , Elasticity
9.
Klin Monbl Augenheilkd ; 240(8): 952-959, 2023 Aug.
Article in English, German | MEDLINE | ID: mdl-37567234

ABSTRACT

Differentiating between various intraocular lens (IOL) changes can be a challenge. In particular, certain IOL models carry the risk of late postoperative calcification. A major cause of IOL exchange surgery could be avoided if appropriate modifications were made during the IOL manufacturing process. The use of a hydrophilic acrylate carries the risk of IOL calcification, especially when a secondary procedure, such as a pars plana vitrectomy or other procedures using gas or air, is performed. In secondary IOL calcification, there is a wide range of opacification patterns, which are usually located in the centre on the anterior surface of the IOL or sometimes elsewhere. Often, granular deposits accumulate just below or on the surface of the IOL, leading to significant deterioration in visual quality and eventually requiring IOL exchange surgery. Therefore, in the case of eyes requiring secondary surgical intraocular intervention in the future, the use of hydrophilic IOLs should be critically evaluated. With regard to hydrophobic IOL materials, there are clear differences in the susceptibility to the formation of glistenings. Over time, there has been a significant decrease in glistening formation over the past 30 years due to optimisation of the material. With hydrophobic IOLs, special care should also be taken to avoid mechanical damage. In general, the only treatment option for functionally-impairing IOL opacification is surgical lens exchange, which carries potential risks of complications. In cases with a low degree of functional impairment, and especially in eyes with additional ocular diseases, it may be difficult to weigh the risk of additional surgery against the potential benefit. In some cases, it may be more appropriate not to perform an IOL exchange despite the IOL opacification. Recent visualisation methods that allow high-resolution analysis of the opacities in vivo and in vitro may be used in the future to estimate the functional effects of various IOL material changes on the optical quality.


Subject(s)
Calcinosis , Lenses, Intraocular , Phacoemulsification , Humans , Diagnosis, Differential , Lens Implantation, Intraocular , Postoperative Complications/diagnosis , Postoperative Complications/etiology , Eye, Artificial/adverse effects , Calcinosis/etiology
10.
Diagnostics (Basel) ; 13(11)2023 Jun 01.
Article in English | MEDLINE | ID: mdl-37296795

ABSTRACT

AIM: To determine the clinical risk factors that may increase the occurrence of intraocular lens (IOL) calcification in patients who had undergone pars plana vitrectomy (PPV). METHODS: The medical records of 14 patients who underwent IOL explantation due to clinically significant IOL opacification after PPV were reviewed. The date of primary cataract surgery, technique and implanted IOL characteristics; the time, cause and technique of PPV; tamponade used; additional surgeries; the time of IOL calcification and explantation; and IOL explantation technique were investigated. RESULTS: PPV had been performed as a combined procedure with cataract surgery in eight eyes and solely in six pseudophakic eyes. The IOL material was hydrophilic in six eyes, hydrophilic with a hydrophobic surface in seven eyes and undetermined in one eye. The endotamponades used during primary PPV were C2F6 in eight eyes, C3F8 in one eye, air in two eyes and silicone oil in three eyes. Two of three eyes underwent subsequent silicone oil removal and gas tamponade exchange. Gas in the anterior chamber was detected in six eyes after PPV or silicone oil removal. The mean interval between PPV and IOL opacification was 20.5 ± 18.6 months. The mean BCVA in logMAR was 0.43 ± 0.42 after PPV, which significantly decreased to 0.67 ± 0.68 before IOL explantation for IOL opacification (p = 0.007) and increased to 0.48 ± 0.59 after the IOL exchange (p = 0.015). CONCLUSIONS: PPV with endotamponades in pseudophakic eyes, particularly gas, seems to increase the risk for secondary IOL calcification, especially in hydrophilic IOLs. IOL exchange seems to solve this problem when clinically significant vision loss occurs.

11.
Retina ; 43(12): 2183-2188, 2023 Dec 01.
Article in English | MEDLINE | ID: mdl-37319421

ABSTRACT

PURPOSE: The smaller incision, new-generation implantable miniature telescope is a novel implant to optimize vision in retinal patients with central vision loss. Using Miyake-Apple techniques we visualized the device implantation, repositioning, and explantation, while noting capsular bag dynamics. METHODS: Using the Miyake-Apple technique, we assessed capsular bag deformation after successful implantation of the device in human autopsy eyes. We assessed rescue strategies for converting a sulcus implantation to a capsular implantation and explantation strategies. We noted the occurrence of posterior capsule striae, zonular stress, and the haptics' arc of contact with the capsular bag after implantation. RESULTS: Acceptable zonular stress was observed during the successful implantation of the SING IMT. When it was implanted in the sulcus, one could reposition the haptics into the bag with two spatulas using counter-pressure in an effective strategy despite inducing tolerable, medium zonular stress. A similar technique, in reverse, allows safe explantation without damaging the rhexis or the bag, while inducing similar medium, tolerable zonular stress. In all eyes we examined, the implant considerably stretches the bag, inducing a capsular bag deformation and posterior capsule striae. CONCLUSION: The SING IMT can be safely implanted without significant zonular stress. In sulcus implantation and explantation, repositioning of the haptic is achievable without perturbing zonular stress using the presented approaches. It stretches average-sized capsular bags to support its weight. This is achieved by an increased arc of contact of the haptics with the capsular equator.


Subject(s)
Lens Capsule, Crystalline , Lenses, Intraocular , Malus , Humans , Lens Implantation, Intraocular/methods , Lens Capsule, Crystalline/surgery , Prostheses and Implants , Capsulorhexis
12.
Klin Monbl Augenheilkd ; 240(8): 981-988, 2023 Aug.
Article in English, German | MEDLINE | ID: mdl-37391182

ABSTRACT

Simultaneous implantation of a monofocal or monofocal toric intraocular lens (IOL) into the capsular bag and a multifocal IOL into the ciliary sulcus, referred to as duet procedure, allows us to create multifocality that is more easily reversible than the implantation of a capsular bag-fixated multifocal IOL. The optical quality and results after the duet procedure are equivalent to those of a capsular bag-fixated multifocal IOL. Patients who cannot tolerate the side effects of multifocal optics or who develop an ocular condition leading to loss of function such as age-related macular degeneration (AMD) or glaucoma in the course of their lives may benefit from the reversibility of the procedure.


Subject(s)
Lens Capsule, Crystalline , Lenses, Intraocular , Phacoemulsification , Humans , Lens Implantation, Intraocular/methods , Visual Acuity
13.
Ophthalmologie ; 120(10): 1022-1028, 2023 Oct.
Article in German | MEDLINE | ID: mdl-37171476

ABSTRACT

BACKGROUND: Opacification through calcification of hydrophilic acrylic intraocular lenses is a serious complication of cataract surgery, which usually results in explantation of the lens. In the process of calcification, the intraocular lens material plays a crucial role: calcification only occurs in hydrophilic acrylic lenses. Hydrophobic acrylic lenses show no crystal formation within the polymer. Hydrophilic acrylic lenses from some manufacturers have hydrophobic surface properties. The question arises as to what influence these surface properties have on the risk of calcification. OBJECTIVE: The present study investigated whether the hydrophobic surface properties of hydrophilic acrylic lenses can prevent calcification. MATERIAL AND METHODS: Using an electrophoretic in vitro model of calcification, two hydrophilic lenses with hydrophobic surface properties were compared to two hydrophilic lenses and a hydrophobic negative control to determine the risk of calcification. The lenses were then analyzed by optical microscopy, Alizarin Red and Von Kossa staining, scanning electron microscopy (SEM) and energy dispersive X­ray spectroscopy (EDX). RESULTS: All four hydrophilic lens models showed calcification within the polymer. No difference was found between the hydrophilic lenses and the hydrophilic lenses with hydrophobic surface properties in terms of crystal formation. The hydrophobic negative control showed no calcification. CONCLUSION: The investigation conducted in this study under standardized conditions could show that hydrophobic surface properties of hydrophilic acrylic lenses do not protect against calcium phosphate crystal formation within the polymer. There also is a risk of calcification in these lens models.

14.
J Cataract Refract Surg ; 49(9): 982-987, 2023 09 01.
Article in English | MEDLINE | ID: mdl-37144644

ABSTRACT

In this meta-analysis and systematic literature review of refractive outcomes after Descemet membrane endothelial keratoplasty (DMEK), the extent of the refractive shift and an overview of reasons for refractive shift after DMEK are provided. The PubMed library was screened for articles containing the terms "Descemet membrane endothelial keratoplasty," "DMEK," "Descemet membrane endothelial keratoplasty combined with cataract surgery," "triple-DMEK" combined with "refractive outcomes," "refractive shift," and "hyperopic shift." The refractive outcomes after DMEK were analyzed and compared using a fixed and random effects model. The overall mean change of the spherical equivalent outcome when compared with the preoperative value in cases of DMEK or when compared with the preoperative target refraction in cases of DMEK combined with cataract surgery was +0.43 diopters (D) (95% CI, 0.31-0.55). When DMEK is combined with cataract surgery, a target refraction of -0.5 D is recommended to achieve emmetropia. Changes in the posterior corneal curvature are identified as the main cause of the refractive hyperopic shift.


Subject(s)
Cataract , Descemet Stripping Endothelial Keratoplasty , Fuchs' Endothelial Dystrophy , Hyperopia , Humans , Visual Acuity , Descemet Stripping Endothelial Keratoplasty/adverse effects , Refraction, Ocular , Hyperopia/surgery , Cataract/complications , Retrospective Studies , Fuchs' Endothelial Dystrophy/surgery , Fuchs' Endothelial Dystrophy/complications , Descemet Membrane/surgery , Endothelium, Corneal
15.
Sci Rep ; 13(1): 2822, 2023 02 17.
Article in English | MEDLINE | ID: mdl-36805494

ABSTRACT

To evaluate the long-term posterior capsule opacification (PCO) formation, and glistening rate of the HOYA Vivinex (XY1) IOL compared to Alcon AcrySof (SN60WF). In this prospective, multicentric, randomized, paired-eye, open-label study, we included 87 subjects that underwent cataract surgery with IOL implantation, with 67 patients completing the 3-year follow-up. The completer population consisted of 32 subjects implanted with XY1 and 35 implanted with SN60WF. Primary endpoints consisted of the evaluation of glistenings and measurement of PCO. Secondary outcomes included Best Corrected Distance Visual Acuity (BCVA), Contrast Acuity (CA), uncorrected visual acuities, subjective refraction, medical and lens complication rates, adverse events, and optical/visual symptoms. Follow-up visits occurred at 6-months, 1-, 2- and 3-years. At 3-years follow-up, mean PCO score was 0.121 ± 0.193 for eyes implanted with Vivinex versus 0.239 ± 0.463 for AcrySof (p = 0.026). The Vivinex IOL showed statistically significantly lower glistening occurrence through 3-years postoperatively (0.14 ± 0.26) compared to AcrySof (1.79 ± 1.43; p < 0.0001). Postoperative visual acuities improved from baseline in both IOL groups (p < 0.0001), and remained stable through the 3-year follow-up period. Eyes implanted with a HOYA Vivinex IOL exhibited significantly lower occurrence of glistening at 3-years versus Alcon AcrySof (p < 0.0001). Incidence of PCO was very low and comparable in both Vivinex and AcrySof eyes.


Subject(s)
Capsule Opacification , Cataract Extraction , Lens, Crystalline , Lenses, Intraocular , Humans , Capsule Opacification/etiology , Prospective Studies , Lenses, Intraocular/adverse effects , Cataract Extraction/adverse effects
16.
Bone ; 167: 116614, 2023 02.
Article in English | MEDLINE | ID: mdl-36400164

ABSTRACT

BACKGROUND: Metaphyseal chondrodysplasias are a heterogeneous group of diseases characterized by short and bowed long bones and metaphyseal abnormality. The aim of this study is to investigate the genetic etiology and prognostic findings in patients with metaphyseal dysplasia. METHODS: Twenty-four Turkish patients were included in this study and 13 of them were followed for 2-21 years. COL10A1, RMRP sequencing and whole exome sequencing were performed. RESULTS: Results: Seven heterozygous pathogenic variants in COL10A1 were detected in 17 patients with Schmid type metaphyseal chondrodysplasia(MCDS). The phenotype was more severe in patients with heterozygous missense variants (one in signal peptide domain at the N-terminus of the protein, the other, class-1 group mutation at NC1 domain) compared to the patients with truncating variants. Short stature and coxa vara deformity appeared after 3 and 5 years of age, respectively, while large femoral head resolved after the age of 13 years in MCDS group. Interestingly, one patient with severe phenotype also had a biallelic missense variant in NC1 domain of COL10A1. Three patients with biallelic mutations in RMRP had prenatal onset short stature with short limb, and typical findings of cartilage hair hypoplasia (CHH). While immunodeficiency or recurrent infections were not observed, resistant congenital anemia was detected in one. Biallelic mutation in LBR was described in a patient with prenatal onset short stature, short and curved limb and metaphyseal abnormalities. Unlike previously reported patients, this patient had ectodermal findings, similar to CHH. A biallelic COL2A1 mutation was also found in the patient with lower limb deformities and metaphyseal involvement without vertebral and epiphyseal changes. CONCLUSION: Long-term clinical characteristics are presented in a metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. We also point out that the domains where mutations on COL10A1 take place are important in the genotype-phenotype relationship.


Subject(s)
Bone Diseases , Osteochondrodysplasias , Humans , Collagen Type II/genetics , Mutation/genetics , Osteochondrodysplasias/diagnostic imaging , Osteochondrodysplasias/genetics , Osteochondrodysplasias/pathology , Lamin B Receptor
17.
Article in English | MEDLINE | ID: mdl-36525326

ABSTRACT

BACKGROUND: Although flexible flatfoot (FF) in children is a foot deformity that is frequently encountered in daily orthopedics practice, its etiology is still controversial. The aim of this study was to determine whether there is a weakness in muscle strength and proprioception in patients with FF. METHODS: The study group consisted of 16 cases with FF, and the control group consisted of 25 volunteers with normal feet. An isokinetic dynamometer was used to assess muscle strength and proprioception of movement directions of plantarflexion, dorsiflexion, eversion (EV), and inversion (INV) in both groups. RESULTS: There was no statistically significant difference between the groups in strength of plantarflexion and dorsiflexion muscles, whereas in the control group, proprioception of all four movement directions and strengths of the EV and INV muscles were found to be statistically significantly higher (P < .05). CONCLUSIONS: There is weakness in EV and INV muscle strength and proprioception disorder in patients with FF. We recommend conducting further studies that validate muscle weakness and proprioception disorders with different study designs and evaluate the effectiveness of improving muscle strength and proprioception weakness in FF.


Subject(s)
Flatfoot , Child , Humans , Muscle Strength/physiology , Proprioception/physiology , Exercise Therapy
18.
Jt Dis Relat Surg ; 33(3): 567-573, 2022.
Article in English | MEDLINE | ID: mdl-36345184

ABSTRACT

OBJECTIVES: This study aims to assess the natural history of congenital posteromedial bowing of the tibia (CPMBT) deformity during growth and to evaluate the outcomes of lengthening by an Ilizarov frame in CPMBT patients with limb length discrepancy (LLD). PATIENTS AND METHODS: Between January 2000 and December 2019, a total of 22 patients (12 males, 10 females; mean age: 10.5±4.4 years; range, 6 to 19 years) with the diagnosis of CPMBT and followed closely from birth until skeletal maturity were retrospectively analyzed. The radiographic evaluation included the anteroposterior and lateral interphyseal angle and full leg standing radiographs. Limb lengthening by an Ilizarov frame was performed for an estimated LLD over 40 mm. RESULTS: The age of the patients ranged from six days to 10 months at the time of presentation, while the mean age at the final follow-up was 10.5±4.4 years. Posterior medial bowing was satisfactorily remodeled in 13 (59%) patients those were not operated either for deformity or LLD. The mean LLD was 21±4.1 mm in 13 nonoperated CPMBT patients. Nine of 22 (41%) patients underwent lengthening for LLD. Five of the nine CPMBT patients were operated under the age of 10 years, while four were operated over the age of 10 years. CONCLUSION: According to the results of the current study, CPMBT was satisfactorily remodeled in more than half of the patients, and the majority of patients did not undergo surgery for angular deformity and LLD within 10 years of their lives. Based on these findings, although most of the patients' deformities remodeled, it should be kept in mind that some may require lengthening surgery.


Subject(s)
Leg , Tibia , Male , Female , Humans , Child , Adolescent , Infant, Newborn , Tibia/diagnostic imaging , Tibia/surgery , Leg Length Inequality/diagnostic imaging , Leg Length Inequality/surgery , Retrospective Studies , Radiography
19.
Diagnostics (Basel) ; 12(10)2022 Oct 04.
Article in English | MEDLINE | ID: mdl-36292095

ABSTRACT

The purpose of this study is to quantitatively assess lens opacity, using a swept-source optical coherence tomography (SS-OCT) device for anterior segment assessment, and establish the correlation with Scheimpflug imaging, corrected distance visual acuity (CDVA) and cumulative dissipated energy (CDE). This prospective cross-sectional single-center study enrolled 51 patients (51 eyes) with crystalline lens opacity. Patients with previous ocular surgery, pathologies or general disorders affecting vision were excluded. Eyes were scanned with an SS-OCT device, and lens densitometry was automatically analyzed using a custom MATLAB script which examined lens density, nuclear density and linear density. The same analyses were performed on Scheimpflug images. Preoperative CDVA and CDE during phacoemulsification were recorded. Spearman's (ρ) and Pearson's (r) correlation coefficients were assessed according to data normality. Statistically significant correlations were established between SS-OCT and Scheimpflug imaging using lens analysis (ρ = 0.47, p < 0.001), nuclear analysis (ρ = 0.73, p < 0.001) and linear analysis (r = 0.44, p < 0.001). A significant correlation with CDE was found with all the SS-OCT methods (r = 0.57, p < 0.001). Only the nuclear analysis of the SS-OCT scans (Tb = −0.33, p < 0.01) and Pentacam Nucleus Staging (Tb = −0.26, p < 0.05) showed a statistically significant correlation with CDVA. Good inter-device agreement in lens densitometry was found. However, SS-OCT yielded improved lens imaging compared with the Scheimpflug device and a higher correlation with clinical parameters. Thus, high-resolution SS-OCT has the potential to become a preferable option for automatic cataract grading and preoperative planning.

20.
Sci Rep ; 12(1): 14563, 2022 08 26.
Article in English | MEDLINE | ID: mdl-36028543

ABSTRACT

Ophthalmic viscosurgical device (OVD) is used during intraocular surgery to protect ocular tissue. It requires complete removal from the eye by the end of surgery to avoid postoperative complications. This study compares the interaction of a cohesive OVD with two different intraocular lenses (IOLs) of different equilibrium water content. In this laboratory study on porcine cadaver eyes, the capsular bags and anterior chambers of each eye were filled with fluorescein-stained OVD. Following implantation of 10 IOLs each of Clareon CNA0T0 and AcrySof SN60WF (Alcon Laboratory, Fort Worth, USA) IOLs, the OVD was removed using the irrigation/aspiration mode. The OVD removal was timed and differences between the both IOL groups were compared. OVD removal time ranged from 18 to 40 s (mean ± SD, 26.4 ± 6.8 s) and from 16 to 39 s (mean ± SD, 23.6 ± 6.6 s) for eyes implanted with a CNA0T0 and a SN60WF IOL, respectively, without a statistically significant difference between the groups, P > 0.05. Cohesive OVD removal times were similar between the CNA0T0 and SN60WF groups. Surgeons should experience no differences regarding the interaction between cohesive OVDs and IOLs made from the new Clareon material compared to the established AcrySof material.


Subject(s)
Lenses, Intraocular , Phacoemulsification , Animals , Hydrophobic and Hydrophilic Interactions , Lens Implantation, Intraocular , Swine , Water
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