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1.
Life (Basel) ; 13(6)2023 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-37374043

RESUMEN

Atrial fibrillation (AF) is a very common arrhythmia that mainly affects older individuals. The mechanism of atrial fibrillation is complex and is related to the pathogenesis of trigger activation and the perpetuation of arrhythmia. The pulmonary veins in the left atrium arei confirm that onfirm the most common triggers due to their distinct anatomical and electrophysiological properties. As a result, their electrical isolation by ablation is the cornerstone of invasive AF treatment. Multiple factors and comorbidities affect the atrial tissue and lead to myocardial stretch. Several neurohormonal and structural changes occur, leading to inflammation and oxidative stress and, consequently, a fibrotic substrate created by myofibroblasts, which encourages AF perpetuation. Several mechanisms are implemented into daily clinical practice in both interventions in and the medical treatment of atrial fibrillation.

2.
Antioxidants (Basel) ; 12(4)2023 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-37107227

RESUMEN

Ischemia-reperfusion (I/R) events are involved in the development of various ocular pathologies, e.g., retinal artery or vein occlusion. We tested the hypothesis that resveratrol is protective against I/R injury in the murine retina. Intraocular pressure (IOP) was elevated in anaesthetized mice to 110 mm Hg for 45 min via a micropipette placed in the anterior chamber to induce ocular ischemia. In the fellow eye, which served as control, IOP was kept at a physiological level. One group received resveratrol (30 mg/kg/day p.o. once daily) starting one day before the I/R event, whereas the other group of mice received vehicle solution only. On day eight after the I/R event, mice were sacrificed and retinal wholemounts were prepared and immuno-stained using a Brn3a antibody to quantify retinal ganglion cells. Reactivity of retinal arterioles was measured in retinal vascular preparations using video microscopy. Reactive oxygen species (ROS) and nitrogen species (RNS) were quantified in ocular cryosections by dihydroethidium and anti-3-nitrotyrosine staining, respectively. Moreover, hypoxic, redox and nitric oxide synthase gene expression was quantified in retinal explants by PCR. I/R significantly diminished retinal ganglion cell number in vehicle-treated mice. Conversely, only a negligible reduction in retinal ganglion cell number was observed in resveratrol-treated mice following I/R. Endothelial function and autoregulation were markedly reduced, which was accompanied by increased ROS and RNS in retinal blood vessels of vehicle-exposed mice following I/R, whereas resveratrol preserved vascular endothelial function and autoregulation and blunted ROS and RNS formation. Moreover, resveratrol reduced I/R-induced mRNA expression for the prooxidant enzyme, nicotinamide adenine dinucleotide phosphate oxidase 2 (NOX2). Our data provide evidence that resveratrol protects from I/R-induced retinal ganglion cell loss and endothelial dysfunction in the murine retina by reducing nitro-oxidative stress possibly via suppression of NOX2 upregulation.

3.
J Innov Card Rhythm Manag ; 14(3): 5372-5378, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36998415

RESUMEN

Ventricular sensing relies on the analysis of a local intracardiac electrogram in reference to the QRS on the surface electrocardiogram. If both signals do not coincide in time, there is a delay in sensing intrinsic ventricular activity. We evaluated possible differences in the electrical delay between the mid-septum and apex as determined by the right ventricular (RV) lead position using a pacing system analyzer (PSA) during conventional pacemaker implantation. Patients without significant heart disease and intrinsic atrioventricular conduction underwent their first Medtronic (Minneapolis, MN, USA) or Abbott (Chicago, IL, USA) dual-chamber pacemaker implantation with the RV lead first positioned at the apex and then subsequently at the mid-septum. Real-time ventricular sensing data were obtained through PSA to determine the electrical delay Q-VS value as the time difference between the QRS and the released RV-sensed event marker "VS." Among 212 patients, 139 had narrow QRS and 73 had complete right bundle branch block (RBBB). Overall, both narrow QRS and RBBB patients exhibited shorter Q-VS lengths at the mid-septum compared to the apex (50.4 ± 24.2 ms and 66.7 ± 32.3 ms vs. 63.9 ± 27.6 ms and 71.7 ± 32.2 ms; P < .0001 and P < .001, respectively). The Q-VS in patients with Abbott devices was significantly shorter compared to that in patients with Medtronic devices at both the mid-septum and the apex in both patient groups (P < .0001). In conclusion, RV lead positioning at the mid-septum is associated with a shorter electrical delay compared to positioning at the apex in both narrow QRS and RBBB patients.

4.
J Arrhythm ; 38(5): 756-762, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36237850

RESUMEN

Background: Pacemaker implantation involves intraoperative testing of ventricular sensing using a device called a pacing system analyzer (PSA). The value obtained is expected to correspond to those taken by the pacemaker after its implantation. This study determined the latency period for sensing intracardiac electrogram (EGM) by the right ventricular (RV) lead. Methods: Patients without significant heart disease and underlying intrinsic atrioventricular (AV) conduction underwent Medtronic or Abbott dual-chamber pacemaker implantation with the RV lead positioned on the mid-septum. Real-time sensing data were obtained through PSA and after pacemaker implantation to evaluate latency as the time interval Q-VS between the onset of QRS on surface electrocardiogram and the sensed EGM by the RV lead. Results: Of 157 patients, 105 had narrow QRS (<120 ms) and 52 had wide QRS of complete right bundle branch block (RBBB). Both narrow-QRS and RBBB patients had longer sensing latency through PSA (50.9 ± 24.2 and 67.8 ± 32.9 ms, respectively) than through pacemaker (18.2 ± 12.8 and 31.2 ± 14.8 ms, respectively, both p < 0.001). RBBB patients had longer sensing latency compared with narrow QRS patients, either through PSA or through pacemaker (p < 0.001). The sensing latency of Medtronic recipients was longer than those of Abbott in narrow-QRS (p < 0.05), but not in RBBB. Conclusion: We demonstrated longer RV lead sensing latency (1) through PSA than through pacemaker, (2) in RBBB than in narrow-QRS, and (3) in Medtronic pacemakers compared with Abbott pacemakers. Knowledge of sensing latency helps the optimization of the AV delay.

5.
Eur J Ophthalmol ; : 11206721221124688, 2022 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-36062617

RESUMEN

PURPOSE: We report visual and anatomical outcomes of chronic postoperative macular edema treated with a fluocinolone acetonide intravitreal implant. METHOD: Retrospective study of chronic, post-surgical CME treated with a fluocinolone acetonide intravitreal implant. Best registered visual acuity (BRVA), central retinal thickness (CRT), and Goldmann tonometry intraocular pressure (IOP) were assessed over 24 months. The need for IOP lowering treatment, top-up therapy during follow-up, and complications were also assessed. RESULTS: We analyzed 16 consecutive eyes of 16 patients with chronic, post-surgical CME treated with fluocinolone acetonide intravitreal implant. Surgical indications included cataract surgery, vitrectomy plus membrane peeling and combined phaco-vitrectomy. Baseline mean BRVA of 0.8 ± 0.65 logMAR improved to 0.60 ± 0.4 logMAR (p = 0.02) at 12 months and to 0.7 ± 0.5 logMAR (p = 0.32) at 24 months. At month 12, BRVA improved in 11 eyes, stabilized in 4 eyes, and decreased in 1 eye. At month 24, VA remained improved in 5 eyes, remained stabilized in 5 eyes, and decreased in 1 eye. Mean CRT decreased from 524 ± 132 µm at baseline to 389 µm at month 3, 347 µm at month 6, 355 ± 106 µm (p = 0.0003) at month 12, and 313 ± 83 µm (p = 0.0001) at month 24. At 12 months, CRT improved in 13 eyes and remained unchanged in 2 eyes. At 24 months, CRT improved further in 8 eyes, and stabilized in 3 eyes. Increased IOP (≥21 mmHg) was observed only in 4 eyes, all successfully managed with topical medication. No further side effects were observed in any patient. CONCLUSION: Visual and anatomic improvements were achieved by a single fluocinolone acetonide implant with few side effects up to 24 months in CME eyes with a long and heavy prior treatment history.

6.
BMC Res Notes ; 15(1): 32, 2022 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-35144644

RESUMEN

OBJECTIVE: The aim of this prospective pilot study is to establish an initial database to register patients diagnosed with different types of childhood glaucoma and the set-up of a national registry for childhood glaucoma (ReCG) in Germany. 28 children with different types of diagnosed childhood glaucoma, who were admitted and treated at the Childhood Glaucoma Center of the University Medical Center Mainz, Germany were included. Main outcome measures were the type of childhood glaucoma, mean intraocular pressure (IOP) and genetic data of the patients. RESULTS: The documents and questionnaires for each individual included: informed consent form of the parents, medical history form of the child, patient's gestational history questionnaire and general anesthesia examination form. Primary congenital and secondary childhood glaucoma were revealed in 11 (39%) and 17 (61%) patients, respectively. The mean IOP measured with Perkins tonometer in all patients under general anesthesia at the time of inclusion was 17.5 ± 11.8 mmHg in the right and 17 ± 8.9 mmHg in the left eyes. In 33% of children with glaucoma mutations in the CYP1B1, FOXC1, LTBP2 and TEK genes were found. The development of specific questionnaires for childhood glaucoma provides detailed baseline data to establish a ReCG in Germany for the first time.


Asunto(s)
Glaucoma , Presión Intraocular , Niño , Alemania , Glaucoma/diagnóstico , Glaucoma/epidemiología , Glaucoma/genética , Humanos , Proyectos Piloto , Estudios Prospectivos , Sistema de Registros
7.
Acta Ophthalmol ; 100(2): e448-e454, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34355860

RESUMEN

PURPOSE: To evaluate long-term results of glaucoma surgery in newborn and infants with glaucoma. METHODS: Seventy-nine eyes of 52 children (age: 3 weeks-15.3 years) with primary congenital or secondary glaucoma treated between 2015 and 2017 were included. The median follow-up time was 3.9 years. Conventional probe trabeculotomy, 360° catheter-assisted trabeculotomy, filtering and cyclodestructive surgery were compared. Strict criteria for surgical success were applied: Complete surgical success (IOP below target IOP, no further surgery) and incomplete surgical success (additional surgery allowed) were analyzed, and IOP at baseline and last follow-up was compared. RESULTS: Intraocular pressure (IOP) was significantly reduced in primary congenital (preoperative IOP: 27.8 ± 7.5 mmHg vs. postoperative IOP: 14.2 ± 4.5 mmHg) and secondary glaucoma (preoperative IOP: 29.2 ± 9.1 mmHg vs. postoperative IOP: 16.6 ± 4.7 mmHg). 90% of all eyes reached target IOP with or without medication allowing for additional surgeries. As first surgery, 360° catheter-assisted trabeculotomy had a tendency to higher surgical success than other surgical approaches, while cyclodestructive procedures had lowest. CONCLUSIONS: We found very promising surgical results in our childhood glaucoma patient group. Surgical success in both congenital and secondary glaucoma was high.


Asunto(s)
Glaucoma/cirugía , Trabeculectomía/métodos , Adolescente , Niño , Preescolar , Femenino , Glaucoma/congénito , Humanos , Lactante , Recién Nacido , Presión Intraocular , Masculino , Estudios Retrospectivos , Resultado del Tratamiento
8.
Eur J Ophthalmol ; 32(1): 443-449, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33601897

RESUMEN

PURPOSE: To report visual and anatomical outcomes of chronic/refractory diabetic macular edema (DME) treated with intravitreal fluocinolone acetonide implant. SETTING: Retrospective, one arm, multicentric study. METHOD: Between 2013 and 2018, 27 consecutive eyes of 25 patients with chronic/refractory DME were treated with a fluocinolone acetonide intravitreal implant. Best registered visual acuity (BRVA), central retinal thickness (CRT), and Goldmann tonometry intraocular pressure (IOP) were assessed at 12 and 24 months. The need for IOP lowering treatment as well as top-up therapy during the follow-up were also assessed. RESULTS: The duration of DME prior to treatment in our study was 54 ± 24 months. The baseline mean BRVA of 0.7 ± 0.34 logMAR improved to 0.5 ± 0.3 (p = 0.01) at 12 months and 0.46 ± 0.3 (p = 0.04) at 24 months. At 12 months, BRVA improved in 14 eyes (52%), stabilized in 5 eyes (20%), and decreased in 3 eyes (11%). At 24 months, BRVA improved further in 6 eyes (24%), stabilized in 3 eyes (12%), and decreased in 6 eyes (24 %). Mean CRT decreased from 497 ± 176 to 349 ± 186 µm at 12 months (p = 0.0005) and to 267 ± 104 µm at 24 months (p = 0.001). Only five eyes required additional treatment for DME and only three eyes required treatment for raised IOP. DISCUSSION: Our results show that the visual and the anatomical improvements achieved by a single injection of a fluocinolone acetonide implant were maintained up to 24 months with minimal additional therapy even in eyes with a long and heavy history; however, IOP monitoring remains essential.


Asunto(s)
Diabetes Mellitus , Retinopatía Diabética , Edema Macular , Retinopatía Diabética/tratamiento farmacológico , Implantes de Medicamentos/uso terapéutico , Fluocinolona Acetonida , Glucocorticoides/uso terapéutico , Humanos , Inyecciones Intravítreas , Edema Macular/tratamiento farmacológico , Retina , Estudios Retrospectivos
9.
Acta Ophthalmol ; 100(5): e1120-e1126, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34626093

RESUMEN

PURPOSE: To assess surgical success and the post-operative development of intraocular pressure between XEN45® gelstent, Preserflo® MicroShunt and trabeculectomy with mitomycin C. METHODS: Data from 105 eyes from 105 patients of matched cases with refractory open-angle glaucoma, who underwent surgery between January 2019, and August 2020, were evaluated. Patients underwent either stand-alone XEN gelstent insertion with Mitomycin C, stand-alone Preserflo with Mitomycin C or trabeculectomy with Mitomycin C. The primary outcome was the proportion of complete surgical success at 6 months post-operatively (i.e. intraocular pressure between 5mmHg and 18mmHg, no revision surgery, no loss of light perception and no post-operative pharmaceutical antiglaucomatous treatment). The reduction of intraocular pressure after 6 months, the classes of antiglaucomatous medication used post-operatively, best-corrected visual acuity, spherical refractive errors and astigmatism were assessed as secondary outcomes. RESULTS: We included 35 eyes in each group. After 6-month follow-up, complete success was 73.5% [95%-CI: 57.9%-89.2%] in the trabeculectomy group, 51.4% [95%-CI: 34.0%-68.8%] in the XEN group and 74.2% [95%-CI: 57.9%-90.5%] in the Preserflo group (p = 0.08). Regarding secondary outcomes, the reduction of intraocular pressure was 12.1 ± 7.9 mmHg in the trabeculectomy group and was thereby 5.8 [95%-CI: 2.2-9.6] mmHg greater compared with the XEN group (p < 0.001) and 4.8 [95%-CI: 0.9-8.7] mmHg higher than the Preserflo group (p = 0.01). CONCLUSIONS: No statistically significant differences were found between trabeculectomy, XEN45® gelstent implantation and Preserflo® MicroShunt implantation regarding surgical success after 6 months. Yet reduction in intraocular pressure was significantly higher in the trabeculectomy group. However, all three interventions resulted in sufficiently low post-operative intraocular pressure and may therefore be considered individually for glaucoma treatment.


Asunto(s)
Glaucoma de Ángulo Abierto , Trabeculectomía , Estudios de Seguimiento , Glaucoma de Ángulo Abierto/complicaciones , Humanos , Presión Intraocular , Mitomicina , Estudios Retrospectivos , Tonometría Ocular , Trabeculectomía/métodos , Resultado del Tratamiento
10.
Cells ; 10(9)2021 09 16.
Artículo en Inglés | MEDLINE | ID: mdl-34572088

RESUMEN

Ischemia/reperfusion (I/R) events are involved in the pathophysiology of numerous ocular diseases. The purpose of this study was to test the hypothesis that betulinic acid protects from I/R injury in the mouse retina. Ocular ischemia was induced in mice by increasing intraocular pressure (IOP) to 110 mm Hg for 45 min, while the fellow eye served as a control. One group of mice received betulinic acid (50 mg/kg/day p.o. once daily) and the other group received the vehicle solution only. Eight days after the I/R event, the animals were killed and the retinal wholemounts and optic nerve cross-sections were prepared and stained with cresyl blue or toluidine blue, respectively, to count cells in the ganglion cell layer (GCL) of the retina and axons in the optic nerve. Retinal arteriole responses were measured in isolated retinas by video microscopy. The levels of reactive oxygen species (ROS) were assessed in retinal cryosections and redox gene expression was determined in isolated retinas by quantitative PCR. I/R markedly reduced cell number in the GCL and axon number in the optic nerve of the vehicle-treated mice. In contrast, only a negligible reduction in cell and axon number was observed following I/R in the betulinic acid-treated mice. Endothelial function was markedly reduced and ROS levels were increased in retinal arterioles of vehicle-exposed eyes following I/R, whereas betulinic acid partially prevented vascular endothelial dysfunction and ROS formation. Moreover, betulinic acid boosted mRNA expression for the antioxidant enzymes SOD3 and HO-1 following I/R. Our data provide evidence that betulinic acid protects from I/R injury in the mouse retina. Improvement of vascular endothelial function and the reduction in ROS levels appear to contribute to the neuroprotective effect.


Asunto(s)
Antiinflamatorios no Esteroideos/farmacología , Triterpenos Pentacíclicos/farmacología , Sustancias Protectoras/farmacología , Daño por Reperfusión/prevención & control , Retina/efectos de los fármacos , Animales , Masculino , Ratones , Ratones Endogámicos C57BL , Especies Reactivas de Oxígeno/metabolismo , Daño por Reperfusión/etiología , Daño por Reperfusión/metabolismo , Daño por Reperfusión/patología , Retina/lesiones , Retina/metabolismo , Retina/patología , Ácido Betulínico
12.
Int J Mol Sci ; 22(11)2021 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-34200187

RESUMEN

The parasympathetic nervous system is critically involved in the regulation of tear secretion by activating muscarinic acetylcholine receptors. Hence, various animal models targeting parasympathetic signaling have been developed to induce dry eye disease (DED). However, the muscarinic receptor subtype (M1-M5) mediating tear secretion remains to be determined. This study was conducted to test the hypothesis that the M3 receptor subtype regulates tear secretion and to evaluate the ocular surface phenotype of mice with targeted disruption of the M3 receptor (M3R-/-). The experimental techniques included quantification of tear production, fluorescein staining of the ocular surface, environmental scanning electron microscopy, assessment of proliferating cells in the corneal epithelium and of goblet cells in the conjunctiva, quantification of mRNA for inflammatory cytokines and prooxidant redox enzymes and quantification of reactive oxygen species. Tear volume was reduced in M3R-/- mice compared to age-matched controls at the age of 3 months and 15 months, respectively. This was associated with mild corneal epitheliopathy in the 15-month-old but not in the 3-month-old M3R-/- mice. M3R-/- mice at the age of 15 months also displayed changes in corneal epithelial cell texture, reduced conjunctival goblet cell density, oxidative stress and elevated mRNA expression levels for inflammatory cytokines and prooxidant redox enzymes. The findings suggest that the M3 receptor plays a pivotal role in tear production and its absence leads to ocular surface changes typical for DED at advanced age.


Asunto(s)
Conjuntiva/patología , Síndromes de Ojo Seco/patología , Epitelio Corneal/patología , Células Caliciformes/patología , Receptor Muscarínico M3/fisiología , Animales , Conjuntiva/metabolismo , Modelos Animales de Enfermedad , Síndromes de Ojo Seco/etiología , Síndromes de Ojo Seco/metabolismo , Epitelio Corneal/metabolismo , Células Caliciformes/metabolismo , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Especies Reactivas de Oxígeno/metabolismo , Lágrimas/metabolismo
13.
Graefes Arch Clin Exp Ophthalmol ; 259(10): 3045-3053, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33963917

RESUMEN

PURPOSE: This study assesses short-term intraocular pressure (IOP) change in the fellow eye of glaucoma patients after mitomycin C-augmented trabeculectomy, filtering canaloplasty, or PreserFlo™ microshunt implantation in the treated eye. MATERIALS AND METHODS: Retrospective chart review of 235 glaucoma patients (235 eyes) was performed. Patients underwent initial trabeculectomy (187 patients), filtering canaloplasty (25 patients), or PreserFlo™ microshunt implantation (23 patients) in one eye, while the fellow eye was naïve to any previous glaucoma surgery. IOP was evaluated before and on the 1st and 2nd days and at 1 week after surgery. Main outcome measure was IOP change in the fellow eye. Secondary outcomes were proportion of clinically significant IOP elevation in the fellow eye and evaluation of potential risk factors associated with postoperative IOP fluctuation. RESULTS: IOP in the fellow eye at 1 week after trabeculectomy was statistically significantly lower than preoperatively (p < 0.0001), while the IOP did not change significantly in the fellow eyes in filtering canaloplasty or PreserFlo groups. The higher the preoperative IOP was in the fellow eye, the larger was the intraocular pressure-lowering effect at 1 week after trabeculectomy (p < 0.0001). A clinically significant IOP elevation was noted in 14.2%, 9.5%, and 5% of fellow eyes after trabeculectomy, filtering canaloplasty, or PreserFlo™ microshunt implantation, respectively. CONCLUSIONS: This study shows an IOP-lowering effect in the fellow eye of glaucoma patients after trabeculectomy. Significant IOP rise might occur in the fellow eye of some glaucoma patients after different types of glaucoma surgery.


Asunto(s)
Glaucoma de Ángulo Abierto , Trabeculectomía , Glaucoma de Ángulo Abierto/cirugía , Humanos , Presión Intraocular , Estudios Retrospectivos , Tonometría Ocular , Resultado del Tratamiento
15.
Indian Pacing Electrophysiol J ; 21(3): 182-185, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33667573

RESUMEN

Ιn a 76-year old man with a dual-chamber ICD implanted five years ago, dizzy spells and significant bradycardia on Holter were not initially recognized as inhibition of bradycardia pacing, due to oversensing. Hospital admission was deemed necessary only after repetitive ICD shocks attributed to right ventricular pace-sense lead fracture. The need to ensure adequate ICD antibradycardia backup pacing in pacing-dependent patients when deleterious sensing errors occur, cannot be overemphasized.

16.
BMC Ophthalmol ; 21(1): 28, 2021 Jan 11.
Artículo en Inglés | MEDLINE | ID: mdl-33430815

RESUMEN

BACKGROUND: Severe congenital ophthalmological malformations and glaucoma might be an important occasional feature in patients with Coffin-Siris syndrome (CSS), especially Coffin-Siris syndrome 9 (CSS9, OMIM #615866) caused by SOX11 mutation. Recently, primary (open-angle) glaucoma was described in two children with the most common form of Coffin-Siris syndrome, CSS1 (OMIM #135900) by ARID1B (AT-rich interaction domain-containing protein 1B) gene mutation. In this article, we present the first report of glaucoma with Coffin-Siris syndrome 9 as well as the first report of secondary glaucoma with any form of Coffin-Siris syndrome. These findings indicate that secondary glaucoma is an occasional finding in patients with Coffin-Siris syndrome. CASE PRESENTATION: A child with secondary childhood glaucoma and additional ocular manifestations was evaluated and treated at the childhood glaucoma centre in Mainz, Germany. Examination under general anaesthesia revealed ocular anterior segment dysgenesis (ASD) (Peters type iridocorneal dysgenesis) in combination with congenital limbal stem cell deficiency (LSCD), aniridia, and cataract. The patient also had multiple other congenital anomalies and severe developmental delay. To explain his combination of anomalies, molecular genetic analysis from peripheral blood was performed in late 2018 and early 2019. Following normal findings with a panel diagnostic of 18 genes associated with congenital glaucoma, whole exome sequencing was performed and revealed a novel likely pathogenic heterozygous variant c.251G>T, p.(Gly84Val) in the SOX11 gene (SRY-related HMG-box gene 11). The variant had occurred de novo. Thus, the multiple congenital anomalies and developmental delay of the patient represented Coffin-Siris syndrome 9 (CSS9, OMIM #615866). CONCLUSIONS: When eye diseases occur in combination with other systemic features, genetic analysis can be seminal. Results indicate that glaucoma is an occasional feature of patients with Coffin-Siris syndrome. As early treatment may improve the visual outcome of patients with glaucoma, we suggest that patients with Coffin-Siris syndrome should receive specific ophthalmological screening.


Asunto(s)
Anomalías Múltiples , Cara/anomalías , Deformidades Congénitas de la Mano , Hidroftalmía , Discapacidad Intelectual , Micrognatismo , Cuello/anomalías , Niño , Preescolar , Alemania , Humanos , Lactante , Masculino
18.
J Glaucoma ; 30(2): 175-179, 2021 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-33177366

RESUMEN

PRCIS: Treatment of leakage with ocular hypotony after trabeculectomy with mitomycin C (MMC) can be safely achieved through conjunctival patch alone or combined with donor scleral graft in cases of melted underlying sclera. PURPOSE: To report outcomes of 2 surgical approaches for treating ocular hypotony in eyes with blebs with late-onset leakage after standard trabeculectomy with MMC. METHODS: Thirty consecutive cases with bleb leakage and hypotony underwent bleb revision surgery between 2009 and 2014 by the same surgeon (J.W.) at the Department of Ophthalmology of the Mainz University Medical Center, Germany. In 18 patients, an autologous conjunctival patch graft was applied. In 12 patients, the underlying sclera was found melted and an additional scleral donor graft was sutured in place. The authors analyzed intraocular pressure, visual acuity, and optical coherence tomography of the macula preoperatively at 1 day, 1 week, 4 weeks, and 6 months after surgery. RESULTS: The mean IOP was 6.2±3.5 mm Hg preoperatively and 21.7±16.4 mm Hg at 1 day, 13.7±6.7 at 1 week, 13.1±5.1 mm Hg at 4 weeks, and 12.1±4.7 mm Hg at 6 months after surgery. Visual acuity (logMar) increased from 0.57±0.49 preoperatively to 0.49±0.40 at 6 months. Optical coherence tomography showed flattening of macular folds that were present before treatment. No serious adverse event was reported. CONCLUSIONS: This revision technique with conjunctival patch and/or additional donor scleral graft is an effective and safe method for treating late bleb leakage and hypotony maculopathy after trabeculectomy with MMC.


Asunto(s)
Hipotensión Ocular , Trabeculectomía , Humanos , Presión Intraocular , Mitomicina , Hipotensión Ocular/etiología , Hipotensión Ocular/cirugía , Complicaciones Posoperatorias/cirugía , Reoperación , Estudios Retrospectivos , Esclerótica/cirugía
19.
J Clin Med ; 11(1)2021 Dec 21.
Artículo en Inglés | MEDLINE | ID: mdl-35011756

RESUMEN

Childhood glaucoma is a heterogeneous disease and can be associated with various genetic alterations. The aim of this study was to report first results of the phenotype-genotype relationship in a German childhood glaucoma cohort. Forty-nine eyes of 29 children diagnosed with childhood glaucoma were prospectively included in the registry. Besides medical history, non-genetic risk factor anamnesis and examination results, genetic examination report was obtained (23 cases). DNA from peripheral blood or buccal swab was used for molecular genetic analysis using a specific glaucoma gene panel. Primary endpoint was the distribution of causative genetic mutations and associated disorders. Median age was 1.8 (IQR 0.6; 3.8) years, 64% participants were female. Secondary childhood glaucoma (55%) was more common than primary childhood glaucoma (41%). In 14%, parental consanguinity was indicated. A mutation was found in all these cases, which makes consanguinity an important risk factor for genetic causes in childhood glaucoma. CYP1B1 (30%) and TEK (10%) mutations were found in primary childhood glaucoma patients. In secondary childhood glaucoma cases, alterations in CYP1B1 (25%), SOX11 (13%), FOXC1 (13%), GJA8 (13%) and LTBP2 (13%) were detected. Congenital cataract was associated with variants in FYCO1 and CRYBB3 (25% each), and one case of primary megalocornea with a CHRDL1 aberration. Novel variants of causative genetic mutations were found. Distribution of childhood glaucoma types and causative genes was comparable to previous investigated cohorts. This is the first prospective study using standardized forms to determine phenotypes and non-genetic factors in childhood glaucoma with the aim to evaluate their association with genotypes in childhood glaucoma.

20.
PLoS One ; 15(4): e0231614, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32310972

RESUMEN

OBJECTIVE: To compare surgical success, postoperative intraocular pressure and complication rates between trabeculectomy and XEN gelstent surgery in a cohort of glaucoma patients in a typical clinical setting. METHODS: A retrospective cohort study of consecutive patients with refractory open-angle glaucoma including patients who underwent either stand-alone XEN gelstent insertion with Mitomycin C or trabeculectomy with Mitomycin C between 2016 and 2018 at the University Eye Hospital Mainz, Germany. Primary outcome measure was the proportion of surgical success 1 year after surgery. Patients with an IOP ≤18mmHg, an intraocular pressure reduction of >20% and in no need of revision surgery or topical medication were considered a complete surgical success. If topical therapy was necessary, they were considered a qualified success. Multivariable logistic regression analysis was carried out for the primary outcome including gender, age, preoperative intraocular pressure and number of medication classes used preoperatively as adjustment variables. RESULTS: 171 eyes of 144 patients were included, including 82 eyes of 58 patients in the XEN group and 89 eyes of 86 patients in the trabeculectomy group. The primary outcome defined as the proportion of surgical success after 1 year (mean 11.1 months ± 2.2) was similar for both groups. The complete success proportion was 65.5% (95%-CI: 55.6-75.9%) in the trabeculectomy group, and 58.5% (95%-CI: 47.6-69.4%) in the XEN group and not statistically different in our analysis model (crude OR = 0.61; 95%-CI: 0.31-1.22; adjusted OR = 0.66; 95%-CI: 0.32-1.37). The intraocular pressure reduction, as secondary outcome measure, was higher in the trabeculectomy group (10.5 mmHg) compared to the XEN group (7.2 mmHg; p = 0.003) at the 12-month follow-up. CONCLUSION: Both XEN gelstent implantation and trabeculectomy show similar proportions of surgical success and of complications and are therefore both recommendable for clinical routine. However, trabeculectomy seems to be more effective in lowering intraocular pressure than the XEN implantation. A prospective randomized clinical trial is necessary to evaluate differences in the long-term clinical outcome.


Asunto(s)
Implantes de Drenaje de Glaucoma/efectos adversos , Glaucoma de Ángulo Abierto/cirugía , Procedimientos Quirúrgicos Mínimamente Invasivos/efectos adversos , Complicaciones Posoperatorias/epidemiología , Stents/efectos adversos , Trabeculectomía/efectos adversos , Anciano , Femenino , Humanos , Hidrogeles , Masculino , Persona de Mediana Edad , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Complicaciones Posoperatorias/etiología , Trabeculectomía/métodos , Resultado del Tratamiento
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