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1.
Am J Hum Genet ; 108(1): 134-147, 2021 01 07.
Artigo em Inglês | MEDLINE | ID: mdl-33340455

RESUMO

The ubiquitin-proteasome system facilitates the degradation of unstable or damaged proteins. UBR1-7, which are members of hundreds of E3 ubiquitin ligases, recognize and regulate the half-life of specific proteins on the basis of their N-terminal sequences ("N-end rule"). In seven individuals with intellectual disability, epilepsy, ptosis, hypothyroidism, and genital anomalies, we uncovered bi-allelic variants in UBR7. Their phenotype differs significantly from that of Johanson-Blizzard syndrome (JBS), which is caused by bi-allelic variants in UBR1, notably by the presence of epilepsy and the absence of exocrine pancreatic insufficiency and hypoplasia of nasal alae. While the mechanistic etiology of JBS remains uncertain, mutation of both Ubr1 and Ubr2 in the mouse or of the C. elegans UBR5 ortholog results in Notch signaling defects. Consistent with a potential role in Notch signaling, C. elegans ubr-7 expression partially overlaps with that of ubr-5, including in neurons, as well as the distal tip cell that plays a crucial role in signaling to germline stem cells via the Notch signaling pathway. Analysis of ubr-5 and ubr-7 single mutants and double mutants revealed genetic interactions with the Notch receptor gene glp-1 that influenced development and embryo formation. Collectively, our findings further implicate the UBR protein family and the Notch signaling pathway in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism that differs from JBS. Further studies exploring a potential role in histone regulation are warranted given clinical overlap with KAT6B disorders and the interaction of UBR7 and UBR5 with histones.


Assuntos
Epilepsia/genética , Hipotireoidismo/genética , Transtornos do Neurodesenvolvimento/genética , Receptores Notch/genética , Transdução de Sinais/genética , Ubiquitina-Proteína Ligases/genética , Animais , Anus Imperfurado/genética , Caenorhabditis elegans/genética , Linhagem Celular , Displasia Ectodérmica/genética , Transtornos do Crescimento/genética , Células HEK293 , Perda Auditiva Neurossensorial/genética , Histonas/genética , Humanos , Deficiência Intelectual/genética , Camundongos , Mutação/genética , Nariz/anormalidades , Pancreatopatias/genética , Complexo de Endopeptidases do Proteassoma/genética
2.
BMC Neurol ; 24(1): 121, 2024 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-38609854

RESUMO

BACKGROUND: Uraemia causes a generalised encephalopathy as its most common neurological complication. Isolated brainstem uraemic encephalopathy is rare. We report a case of fatigable ptosis and complex ophthalmoplegia in brainstem uraemic encephalopathy. CASE PRESENTATION: A 22-year-old Sri Lankan man with end stage renal failure presented with acute onset diplopia and drooping of eyelids progressively worsening over one week. The patient had not complied with the prescribed renal replacement therapy which was planned to be initiated 5 months previously. On examination, his Glasgow coma scale score was 15/15, He had a fatigable asymmetrical bilateral ptosis. The ice-pack test was negative. There was a complex ophthalmoplegia with bilateral abduction failure and elevation failure of the right eye. The diplopia did not worsen with prolonged stare. The rest of the neurological examination was normal. Serum creatinine on admission was 21.81 mg/dl. The repetitive nerve stimulation did not show a decremental pattern. Magnetic resonance imaging (MRI) of the brain demonstrated diffuse midbrain and pontine oedema with T2 weighted/FLAIR hyperintensities. The patient was haemodialyzed on alternate days and his neurological deficits completely resolved by the end of the second week of dialysis. The follow up brain MRI done two weeks later demonstrated marked improvement of the brainstem oedema with residual T2 weighted/FLAIR hyperintensities in the midbrain. CONCLUSIONS: Uraemia may rarely cause an isolated brainstem encephalopathy mimicking ocular myasthenia, which resolves with correction of the uraemia.


Assuntos
Encefalopatias Metabólicas , Encefalopatias , Miastenia Gravis , Oftalmoplegia , Uremia , Masculino , Humanos , Adulto Jovem , Adulto , Diplopia , Tronco Encefálico/diagnóstico por imagem , Miastenia Gravis/complicações , Miastenia Gravis/diagnóstico , Uremia/complicações , Uremia/diagnóstico , Uremia/terapia , Encefalopatias/diagnóstico , Edema , Oftalmoplegia/diagnóstico , Oftalmoplegia/etiologia
3.
BMC Med Imaging ; 24(1): 97, 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38671380

RESUMO

BACKGROUND: The aim of this study was to evaluate the ability of two novel eyelid curvature measurements to distinguish between normal eyes and different severities of blepharoptosis. METHODS: A comparative cross-sectional analysis of upper eyelid curvature was performed for different severities of patients with unilateral blepharoptosis (congenital and aponeurotic) and normal controls. Mean upper lid contour index (ULCI) and area circularity index (ACI) were calculated for each group by dividing the intercanthal distance by upper eyelid margin length (ULCI) and dividing the interpalpebral area by the area of a circle enclosing the eye (ACI). The ratio of each index for the study and fellow normal eye of each patient was also calculated and compared between groups. RESULTS: A total of 106 eyes including 30 eyes in the control group and 25, 27, and 24 eyes in the mild, moderate, and severe ptosis groups were enrolled in the study. ULCI and ACI showed a statistically significant difference between the groups (p < 0.001, p < 0.001). The inter-eye ratio (ULCI-ratio and ACI-ratio) of indices was also significantly different between groups (p = 0.002, p < 0.001). Pairwise comparisons revealed that ACI and ACI-ratio were significantly different between all pairs of study groups. CONCLUSION: The results of our study showed that ACI based on area measurements may distinguish blepharoptosis patients from normal controls and from each other. Including the data from the fellow normal eyes in the form of ratio indices may improve the differentiating power. These results can be useful in designing the optimal eyelid curvature measurements.


Assuntos
Blefaroptose , Pálpebras , Humanos , Blefaroptose/diagnóstico por imagem , Pálpebras/diagnóstico por imagem , Pálpebras/anormalidades , Pálpebras/patologia , Pálpebras/anatomia & histologia , Feminino , Masculino , Estudos Transversais , Adulto , Pessoa de Meia-Idade , Adolescente , Idoso , Estudos de Casos e Controles , Adulto Jovem , Criança
4.
BMC Ophthalmol ; 24(1): 22, 2024 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-38229008

RESUMO

AIM: to assess the outcomes of a novel algorithm for the calculation of the amount levator muscle plication in congenital blepharoptosis surgery. METHODS: this retrospective comparative study included 34 patients with congenital ptosis subjected to levator muscle plication surgery during the period from October 2021 to November 2022. They were divided into two groups. Group A: the amount of levator muscle plication was calculated by a traditional formula [(amount of ptosis x 3) + 9 mm in cases with good levator function or (amount of ptosis x 3) + 11 mm in cases with fair levator function]. Group B: the amount of levator muscle plication was calculated by a novel nomogram [the result of the traditional formula was modified by subtracting 4 mm if the calculated amount was ≥ 15 mm or subtracting 3 mm if the calculated amount was < 15 mm]. Demographic data, baseline ptosis characteristics and postoperative results at 1st week, 1st month, 3rd month and 6th month were compared between the groups. Primary outcome measure was postoperative Marginal Reflex Distance (MRD1). Secondary outcome measures were lid contour, lid crease and any reported complications. RESULTS: Group A included 20 eyes of 18 patients while Group B included 20 eyes of 16 patients. The mean amount of levator muscle plication was 16.98 ± 2.44 mm and 13.48 ± 2.42 mm in group A and group B respectively. The difference between the two groups was highly statistically significant (p < 0.001). Mean MRD1 at the 1st postoperative week was 4.95 ± 0.37 mm in group A and 4.08 ± 0.64 mm in group B. This difference was highly statistically significant (P < 0.001). Overcorrection was seen in 8 (40%) eyes in group A and 1 (5%) eye in group B. The difference was statistically significant between the two groups (p = 0.008). Undercorrection was seen in only 1 (5%) eye in group B. No other complications were reported. Surgical success was achieved in 12 (60%) eyes in group A versus 18 (90%) eyes in group B. The difference between the two groups was statistically significant (p = 0.03). CONCLUSION: our novel nomogram for the calculation of the amount levator muscle plication in congenital blepharoptosis surgery is effective in achieving a satisfactory postoperative MRD1.


Assuntos
Blefaroplastia , Blefaroptose , Humanos , Blefaroptose/cirurgia , Blefaroptose/congênito , Pálpebras/cirurgia , Blefaroplastia/métodos , Estudos Retrospectivos , Músculos Oculomotores/cirurgia , Algoritmos , Resultado do Tratamento
5.
BMC Ophthalmol ; 24(1): 112, 2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38454351

RESUMO

INTRODUCTION: Severe congenital ptosis poses a complex challenge for oculoplastic surgeons, requiring meticulous surgical intervention to restore eyelid function and improve aesthetic outcomes mainly by using frontalis sling approach. A crucial issue in frontalis sling surgeries is the sustainability of effect. PURPOSE: This retrospective study reports the outcomes of two surgical techniques for treating severe congenital ptosis in the paediatric age group: Silicon rods ptosis sling and a novel technique involving the use of Silicon rods with green braided polyester (Ethibond) sutures to secure the rods in place "sling for the sling". METHODS: The medical records of children who underwent frontalis suspension were reviewed in a retrospective fashion. We identified two groups; the first group (20 patients: 35 eyelids) had the traditional frontalis suspension surgery using silicone suspension set, the second group (14 patients: 25 eyelids) was operated using the new "sling for sling" technique. We used the postoperative marginal reflex distance-1 (MRD-1) as the primary outcome measure while the frequency of both wound related complications and recurrence were considered as secondary outcome measures. Post operative data were collected and compared after 1 month, 6 months, 12 months, and 18 months. RESULTS: Preliminary results indicate promising outcomes for both techniques, with significant improvement in eyelid elevation observed in both groups. However, the novel technique using Silicon rods with Ethibond sutures demonstrated enhanced sustainability, leading to a more durable outcome with significantly less recurrence. CONCLUSION: This study highlights the potential benefits of the novel technique in treating severe congenital ptosis and introduces an innovative approach to Silicone rods fixation to achieve a long-term corrective effect.


Assuntos
Blefaroplastia , Blefaroptose , Criança , Humanos , Blefaroplastia/métodos , Estudos Retrospectivos , Silício , Técnicas de Sutura , Blefaroptose/cirurgia , Blefaroptose/congênito , Silicones , Músculos Oculomotores/cirurgia , Resultado do Tratamento
6.
BMC Ophthalmol ; 24(1): 33, 2024 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-38254041

RESUMO

OBJECTIVE: To evaluate the efficacy and safety of peribulbar triamcinolone acetonide injection for treating ocular myasthenia gravis (OMG), with a comparison of traditional oral drug therapy. METHODS: A total of 22 patients with OMG who received periocular triamcinolone acetonide injection (initially 20 mg weekly, then once per month later if symptoms were improved) from July 2019 to July 2022 were evaluated by a comparison of symptom degree before and after treatment. Adverse reactions were also monitored during the period of treatment. The period of follow-up was more than 6 months. Additionally, a comparison of the treatment efficacy between this periocular injection and traditional oral administration was performed in OMG patients. RESULTS: After 4 weeks of treatment, the degree of ptosis in OMG patients decreased to -3.00 ± 0.69, compared to the value (-0.86 ± 1.32) before treatment. The degree of ophthalmoplegia also decreased from 3.12 ± 0.72 to 0.86 ± 0.88 (P < 0.001) after treatment. The achievement rates of minimal manifestations status (MMS)for ptosis and ophthalmoplegia after 4 week-treatment were 86.3% and 75%, respectively, while they were 50% and 30% in patients with traditional oral administration. There was statistically significant difference only in MMS (rather than symptom relief rate and generalization conversion rate) between two groups. No serious complications (except for intraorbital hematoma) were found in OMG patients during the treatment period. CONCLUSION: Repeated peribulbar injection of triamcinolone acetonide can effectively alleviate the initial symptoms of OMG patients. However, the evaluation of its long-term efficacy is still needed. CLINICAL TRIAL REGISTRY: This study has been clinically registered by Chinese Clinical Trial Registry (ChiCTR), first trial registration date:05/07/2019, registration number: ChiCTR1900024285.


Assuntos
Blefaroptose , Miastenia Gravis , Oftalmoplegia , Humanos , Blefaroptose/induzido quimicamente , Blefaroptose/tratamento farmacológico , Miastenia Gravis/tratamento farmacológico , Projetos de Pesquisa , Triancinolona Acetonida/efeitos adversos
7.
BMC Ophthalmol ; 24(1): 232, 2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38822301

RESUMO

BACKGROUND: Blepharoptosis is a common symptom in ophthalmology clinic, but eyelid retraction when smiling in a ptosis eye is a rare manifestation. Here we report a novel manifestation that eyelid retraction during smiling in a patient with monocular congenital ptosis. CASE DESCRIPTION: A 10-year-old girl with isolated and mild unilateral congenital ptosis showed eyelid retraction in ptotsis eye when smiling together with a lid lag on downgaze. She didn't have any systematic and ocular diseases other than myopia and astigmatism.Eyelid retraction during smiling is 5 mm, resulting in a significant difference in the height of bilateral palpebral fissures.As for ptosis, is mild.The margin to reflex distance 1 is 1.0 mm on the right eye(ptosis eye) and 3.0 mm on the left eye. A lid lag of 1.0 mm on downward gaze was noted on the right, she could close her eyes fully while sleeping.The ice pack test, laboratory test for thyroid function, whole-exome sequencing (WES) and magnetic resonance imaging(MRI) of the orbital and ocular motor nerves showed normal results.Her symptoms alleviated after 6 months, with the retraction of the right upper eyelid when smiling was approximately 3 mm, thus the difference in the palpebral fissure height when smiling was smaller than that at the initial presentation. CONCLUSION: Blepharoptosis may accompanied with abnormal innervation like eyelid retraction, this phenomenon can be alleviated with age.The results of the levator muscle function test should be carefully examined to determine whether it is ptosis in an impaired innervation eyelid.


Assuntos
Blefaroptose , Pálpebras , Humanos , Feminino , Blefaroptose/congênito , Blefaroptose/fisiopatologia , Criança , Pálpebras/fisiopatologia , Sorriso/fisiologia , Músculos Oculomotores/fisiopatologia
8.
Aesthetic Plast Surg ; 48(5): 829-834, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37610517

RESUMO

OBJECTIVE: By comparing the position of the fusion point between the oriental orbital septum and the levator aponeurosis of the upper eyelid in Asian without and with mild ptosis, this study explores the relationship between the fusion point and mild ptosis, providing scientific basis for better utilizing the orbital septum to correct mild ptosis. METHODS: In this study, the outpatients who underwent double eyelid blepharoplasty with incision method in the plastic laser cosmetology department of Hunan Provincial People's Hospital from October 2018 to April 2019 were divided into the normal group and the mild ptosis group. The position of the fusion part of the orbital septum and the aponeurosis of the levator palpebrae superioris was observed in the two groups. There are three types of this position: the height of the fusion part is greater than the width of the tarsal plate, the height of the fusion part is equal to the width of the tarsal plate, and the height of the fusion part is less than the width of the tarsal plate. After the fusion part was exposed during the operation, the width of tarsal plate and the height of fusion part were measured with a scale. The difference of the location of fusion part between the two groups was analyzed. RESULTS: The tarsal plate width was 11.061 ± 0.635 mm in the normal group and 11.062 ± 0.675 mm in the mild ptosis group. There was no significant difference in tarsal plate width between normal group and mild ptosis group (t = 0.645, p = 0.16). The height of the fusion part was 11.032 ± 0.646 mm in the normal group and 11.645 ± 0.429 mm in the mild ptosis group. The fusion position of mild ptosis group was higher than that of normal group (t = 3.769, P < 0.05). There was significant difference in the distribution of fusion site between the two groups (x2 =38.00, P < 0.0001). CONCLUSION: The height of aponeurosis fusion of orbital septum and levator palpebrae superioris in mild ptosis group was higher than that in normal group, which may be the cause of mild ptosis. It is suggested that the appropriate treatment of orbital septum in clinical operation may be effective in the treatment of mild blepharoptosis. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors https://www.springer.com/00266 .


Assuntos
Blefaroplastia , Blefaroptose , Humanos , Aponeurose/cirurgia , Estudos Retrospectivos , Blefaroptose/cirurgia , Blefaroplastia/métodos , Pálpebras/cirurgia , Músculos Oculomotores/cirurgia
9.
Aesthetic Plast Surg ; 48(3): 333-340, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37697086

RESUMO

BACKGROUND: Poor Bell's phenomenon is often considered a relative contraindication for ptosis surgery, as it increases the risk of corneal exposure and dry eye symptoms after surgery. However, the Bell's phenomenon may vary in different individuals and sleep stages, making it inaccurate to predict the position of the eye during sleep based on awake examination. This study aimed to investigate the role of Bell's phenomenon in ptosis surgery and the management of nocturnal lagophthalmos. METHODS: We conducted a retrospective case series of 23 patients with ptosis and poor Bell's phenomenon who underwent different surgical techniques at Xijing Hospital from April 2020 to June 2021. We assessed Bell's phenomenon at different stages of sleep and collected data on ptosis degree, surgical approach, lagophthalmos, complications, and outcomes. RESULTS: Of the total 23 patients originally considered for study, 9 with frontalis muscle advancement technique, 8 with conjoint fascial sheath suspension, 4 with levator resection technique, and 2 with levator aponeurosis plication technique. All patients achieved satisfactory correction of ptosis. One patient had prolonged lagophthalmos and underwent reoperation to lower the eyelid height. Other complications were minor and resolved with conservative treatment. CONCLUSION: We conclude that poor Bell's phenomenon is not a relative contraindication for ptosis surgery. Nocturnal lagophthalmos should be monitored after ptosis surgery regardless of the Bell's phenomenon results. Tape eyelid closure can be an effective solution to protect the corneal surface during nocturnal lagophthalmos. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to Table of Contents or the online Instructions to Authors www.springer.com/00266 .


Assuntos
Blefaroplastia , Blefaroptose , Lagoftalmia , Humanos , Estudos Retrospectivos , Músculos Oculomotores/cirurgia , Blefaroptose/cirurgia , Blefaroplastia/métodos , Pálpebras/cirurgia
10.
Aesthetic Plast Surg ; 2024 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-39037480

RESUMO

INTRODUCTION: Facial ageing, particularly in the periorbital region, is a growing concern in contemporary culture. Upper blepharoplasty, a widely performed cosmetic surgery, addresses both aesthetic and functional issues related to eyelid dermatochalasis. This study aims to investigate patient satisfaction, the relationship between satisfaction and preoperative dermatochalasis severity, and the functional impact of preoperative skin excess. METHODS: A prospective study was conducted from April 2022 to April 2023, evaluating primary upper blepharoplasty outcomes. Patient-reported outcomes were measured using the FACE-Q questionnaire, assessing quality of life and satisfaction. Preoperative symptoms were evaluated using a functional questionnaire. Dermatochalasis severity was classified into three groups. Statistical analyses were performed using SPSS. RESULTS: Seventy-nine patients met inclusion criteria. Postoperative FACE-Q results demonstrated significant improvements in upper eyelid appraisal and satisfaction with eyes. Functional questionnaire results indicated an overall clinical improvement (p < 0.01). Visual field tests showed statistically significant improvement in group 3. No correlation was found between preoperative dermatochalasis severity and postoperative aesthetic satisfaction. CONCLUSION: The study emphasizes the importance of validated questionnaires, particularly FACE-Q, in evaluating patient satisfaction and discomfort with upper lid ageing. Regardless of functional impairments, any degree of dermatochalasis may warrant treatment to ensure patient satisfaction with the cosmetic outcome. On the other hand, the functional benefits and improvements in the visual field also support the impact that the procedure has beyond purely aesthetic aspects. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

11.
Aesthetic Plast Surg ; 2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38480655

RESUMO

BACKGROUND: Aquafilling was used to be a popular breast filler and was banned due to increasing reports of complications. Debridement surgery is the only available approach to treat complications caused by gel fillers, but it often leads to breast deformity and skin laxity. This study aims to present a new surgical strategy to reshape the breast immediately after Aquafilling removal. METHODS: Twelve patients who underwent Aquafilling removal at our institution were included, with five patients receiving the combined vertical mastopexy in group I and seven patients receiving Aquafilling removal alone in group II. Surgical data, complications and satisfaction were compared between the two groups. Satisfaction was assessed by using the BREAST-Q at least 6 months after surgery. RESULTS: The age range of the 12 patients was 41-56 years. Although the duration of surgery in group I was longer than that in group II (p = 0.011), the drainage duration and postoperative hospitalization between the two groups were comparable. All patients recovered well. Scarring was the only complication in group I, but there was no difference compared to group II (p = 0.711). Group II had a significantly higher incidence of postoperative depression deformity than group I (p = 0.008). Regarding satisfaction, patients in group I had significantly higher scores in satisfaction with breasts, psychosocial well-being and sexual well-being than those in group II. CONCLUSION: Combining Aquafilling removal with vertical mastopexy is an effective method of reshaping the shape of the ptotic breasts, offering superior esthetic outcomes without delaying postoperative recovery or increasing the risk of complications. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

12.
Aesthetic Plast Surg ; 48(9): 1688-1697, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38360956

RESUMO

BACKGROUND: Eyelid ptosis is an underestimated pathology deeply affecting patients' quality of life. Internet has increasingly become the major source of information regarding health care, and patients often browse on websites to acquire an initial knowledge on the subject. However, there is lack of data concerning the quality of available information focusing on the eyelid ptosis and its treatment. We systematically evaluated online information quality on eyelid ptosis by using the "Ensuring Quality Information for Patients" (EQIP) scale. MATERIALS AND METHODS: Google, Yahoo and Bing have been searched for the keywords "Eyelid ptosis," "Eyelid ptosis surgery" and "Blepharoptosis." The first 50 hits were included, evaluating the quality of information with the expanded EQIP tool. Websites in English and intended for general non-medical public use were included. Irrelevant documents, videos, pictures, blogs and articles with no access were excluded. RESULTS: Out of 138 eligible websites, 79 (57,7%) addressed more than 20 EQIP items, with an overall median score of 20,2. Only 2% discussed procedure complication rates. The majority fail to disclose severe complications and quantifying risks, fewer than 18% clarified the potential need for additional treatments. Surgical procedure details were lacking, and there was insufficient information about pre-/postoperative precautions for patients. Currently, online quality information has not improved since COVID-19 pandemic. CONCLUSIONS: This study highlights the urgent requirement for improved patient-oriented websites adhering to international standards for plastic and oculoplastic surgery. Healthcare providers should effectively guide their patients in finding trustworthy and reliable eyelid ptosis correction information. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .


Assuntos
Blefaroplastia , Blefaroptose , Internet , Humanos , Blefaroptose/cirurgia , Blefaroplastia/métodos , Informação de Saúde ao Consumidor/normas , Educação de Pacientes como Assunto/métodos , Feminino , Masculino
13.
Orbit ; 43(1): 16-21, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36789974

RESUMO

PURPOSE: To present a simplified technique in management of complete ptosis secondary to neurofibromatosis. METHODS: This prospective, non-comparative, clinical interventional study included 13 patients with complete ptosis secondary to histologically proved plexiform neurofibromas. It was conducted at the Orbital Unit of Assiut University Hospital, the referral center of Upper Egypt in the period between June 2013 and October 2021. In all cases, a simplified technique of 5 surgical steps was applied: (A) Division of the involved eyelid surgically into three parts by drawing 2 curvilinear lines, the superior line 11 mm below and parallel to the lower eyebrow hairline and the inferior one 10 mm above the lid margin, (B) Resection (full-thickness) of the large middle part which involves the main pathology and lies between the 2 lines, (C) Preservation of the upper part with identification, dissection and clamping of the levator muscle, (D) Refinement of the lower part by removal of any tissue between the skin and the debulked tarsus and (E) Re-suturing of the upper and lower parts in layers; conjunctiva to conjunctiva, levator to tarsus (after resection of a part that corrects the ptosis) and skin to skin. RESULTS: Ptosis was completely corrected in 8 cases (61.5%) and residual mild ptosis occurred in 5 patients (38.5%). No exposure keratopathy or tumor growth was reported during the follow-up period of minimum 1 year. CONCLUSIONS: This simplified technique could be considered as a surgical basis for correction of complete ptosis in neurofibromatosis.


Assuntos
Blefaroplastia , Blefaroptose , Neurofibromatoses , Humanos , Blefaroplastia/métodos , Estudos Prospectivos , Blefaroptose/etiologia , Blefaroptose/cirurgia , Pálpebras/cirurgia , Neurofibromatoses/complicações , Neurofibromatoses/cirurgia , Estudos Retrospectivos , Músculos Oculomotores/cirurgia
14.
Orbit ; : 1-8, 2024 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-39072581

RESUMO

PURPOSE: Assessment of the frontalis muscle flap eyelid reanimation surgical technique for adults with severe ptosis and apraxia of eyelid opening. METHODS: A retrospective case series of 30 eyes with severe ptosis or apraxia of eyelid opening. Outcomes were assessed for margin to reflex distance 1 (MRD1), lagophthalmos, complications, and need for subsequent surgical intervention. A paired t-test was used to compare preoperative and postoperative scores of a quality-of-life questionnaire. RESULTS: Thirty eyes of 19 patients underwent surgery, 16 (53%) with combined frontalis + levator-Muller muscle flap and 14 (46%) with frontalis muscle flap alone. There were 14 female and 5 male patients, with an average age of 55 years (range, 18-76). Mean preoperative MRD1 was -0.6 mm (range, -5 to 2) with mean levator excursion of 7.1 mm. Seventeen eyes had a myogenic etiology, five had a paralytic etiology, six had blepharospasm with apraxia of lid opening, and two had a neurodegenerative etiology. Nineteen eyes (63%) had previously undergone ptosis repair. Mean postoperative MRD1 was 2.5 mm (range, 0.5 to 5) at mean follow-up of 63.3 days. There were no serious surgical complications; minor complications included ocular surface keratopathy and one patient who required surgical revision. Results of the QOL questionnaire indicated significant improvement in vision-related symptoms postoperatively (p = 0.02). CONCLUSIONS: Use of the frontalis muscle flap eyelid reanimation technique, with or without a levator-Muller retractor muscle flap, was very effective in this case series and provided good upper eyelid position with acceptable corneal protection and high patient satisfaction.

15.
Orbit ; 43(3): 307-315, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38236954

RESUMO

PURPOSE: This study evaluates surgical outcomes and complication rates of frontalis suspension with expanded polytetrafluoroethylene (ePTFE). METHODS: This retrospective cohort study reviewed all patients undergoing frontalis suspension surgery using ePTFE as the sling material from January 1 2012 to March 3 2020 by a single surgeon at a single academic center. Two different surgical techniques were evaluated in the placement of the sling material. Demographic, clinical, and operative data were extracted. Outcome data including postoperative lid height, reoperation, and complication rate were extracted for the cohort and compared between the two surgical techniques. Descriptive statistics were utilized. RESULTS: Sixty-four eyes from 49 unique patients were included in this study. Forty-three (67.2%) patients had isolated congenital blepharoptosis; 14 (21.9%) had blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES); and 2 (3.1%) had cranial nerve III palsy. Fifty-one (79.7%) patients had no prior blepharoptosis surgery. Lid crease incision and stab incision techniques were utilized for 24 (37.5%) and 40 (62.5%) eyes, respectively. Overall, 21 (32.8%) eyes required reoperation with ePTFE to achieve appropriate eyelid height or contour. Only one patient experienced implant infection, requiring removal of ePTFE sling after a second reoperation. There were no cases of implant exposure or granuloma formation noted during the study period. CONCLUSION: An ePTFE strip soaked in cefazolin prior to utilization in surgery is a viable material for frontalis suspension surgery, with a lower infectious or inflammatory complication rate than previously reported. However, reoperation rate was still relatively high.


Assuntos
Blefaroplastia , Blefaroptose , Politetrafluoretileno , Humanos , Estudos Retrospectivos , Masculino , Feminino , Blefaroptose/cirurgia , Blefaroplastia/métodos , Adulto , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Reoperação , Criança , Adolescente , Idoso , Blefarofimose/cirurgia , Pálpebras/cirurgia , Adulto Jovem , Pré-Escolar , Resultado do Tratamento , Anormalidades da Pele , Anormalidades Urogenitais
16.
Orbit ; : 1-4, 2024 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-39193703

RESUMO

PURPOSE: The aim of this study is to evaluate the effect of blepharoplasty, ptosis or eyebrow surgery to quality of life and use of medication related to headache or eyelid skin disease. METHODS: A longitudinal, prospective study including 90 consecutive patients who underwent blepharoplasty, ptosis, eyebrow or combined surgery.  The quality of life related to headache was evaluated by HIT6™ and to eyelid skin disease by Skindex-Mini SDM. Use of medication was measured by number of days per week medication was used for headache or eyelid skin disease. RESULTS: Preoperatively 46 (51%) had headache, 4 (4%) eyelid skin and 2 (2%) headache and eyelid skin symptoms. The median HIT-6 difference was -21 (range -36-0; p < .0001) and the median SDM difference was -13 (range = -15 to -1; p = .036). The median difference in medication days/week related to headache was -1 (range -4-0; p < .0001) and to eyelid skin disease -1.5 (range -3 to -1; p = .034). CONCLUSIONS: This study shows that after upper eyelid blepharoplasty, ptosis or brow ptosis surgery, headache or eyelid skin disease-related quality of life measures are significantly improved, and the use of headache or eyelid skin-related medication is significantly less.

17.
Orbit ; : 1-7, 2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-38511676

RESUMO

PURPOSE: This study aims to describe a novel approach to medial epicanthoplasty in patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and evaluate the surgical outcome of this technique. METHODS: A retrospective, noncomparative, interventional case series involving 22 BPES patients who underwent medial epicanthoplasty using the Lambda-Double-Fixation technique (LDFT) performed by a single surgeon. Pre- and postoperative measurements of inner intercanthal distance (DIC) and horizontal palpebral fissure (HPFL) were recorded. Concurrent or staged ptosis surgery and lateral cantholysis, along with any complications, were documented. RESULTS: The mean age of the patients was 2.9 ± 2.2 years. Preoperatively, the mean DIC measured 34.0 ± 2.7 mm, significantly reducing to 23.7 ± 2.1 mm postoperatively (p < 0.001). A notable increase in mean HPFL was observed in both eyes postoperatively: right eye form 18.4 ± 2.4 mm to 23.7 ± 1.8 mm (p < 0.001) and left eye from 18.3 ± 2.4 mm to 23.8 ± 1.9 mm (p < 0.001). Postoperative scars were barely visible in all patients. CONCLUSION: LDFT is a simple and reproducible technique for medial epicanthoplasty in BPES. Our results affirm that LDFT induces a physiologically concave reshaping of the medial canthal region, optimizing access to the peritarsal zone and ensuring a secure fixation of the new canthus. These benefits lead to a reduction in ICD and an increase in HPFL, leading to a cosmetically appealing postoperative outcome.

18.
Int Ophthalmol ; 44(1): 123, 2024 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-38429587

RESUMO

PURPOSE: Levator muscle dystrophy has been commonly accused being the main pathology of congenital ptosis, nevertheless, few reports drew attention to the existence of congenital aponeurotic defects. This study aims at highlighting the detailed clinical and surgical features of aponeurotic maldevelopment together with the efficacy of simple aponeurosis repair. METHODS: This is a retrospective nonrandomised study including patients with congenital ptosis who underwent levator muscle surgery throughout 4 years. Patients' records were reviewed for the preoperative clinical assessment and photographs, intraoperative recorded data, and videos as well as postoperative data and photographs. RESULTS: Twenty-seven eyes of 22 patients (9.4%) out of 287 eyes were recorded to have absent levator muscle at its typical anatomical insertion site intraoperatively. The mean preoperative MRD1 was (0.44 ± 1.17 mm). The mean levator function was 8.56 ± 3.89 mm, with higher-than-normal crease position (mean value 10.07 ± 1.62 mm). 25 eyes of included cases (92.6%) showed total absence of the levator aponeurosis edge which only was revealed after cutting through the orbital septal covering of the preaponeurotic fat. CONCLUSION: Congenital aponeurotic defect is an established yet under reported entity of congenital ptosis with reproducible characteristic intraoperative findings. Simple aponeurosis repair could achieve ptosis correction in such cases.


Assuntos
Aponeurose , Blefaroptose , Humanos , Estudos Retrospectivos , Músculos Oculomotores/cirurgia , Blefaroptose/cirurgia , Blefaroptose/congênito , Pálpebras/cirurgia
19.
Int Ophthalmol ; 44(1): 106, 2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38386214

RESUMO

PURPOSE: To report the method to assess belpahroptosis and its reliability of adult ptosis using video consultation. METHODS: This is a retrospective, comparative, case series. The surgical waiting list for ptosis surgery between 8/2020 and 1/2021 was checked and only cases listed for surgery via video consultation assessment, without any previous face-to-face consultation, were included. The following data were collected for patients who underwent video consultation before surgery: Demographic data, level of experience of clinician, levator function, Cogan's twitch sign, fatigability test, eye motility, presence of lagophthalmos, clinical history to rule out Myasthenia Gravis, other myopathies or Horner syndrome, whether the surgery was performed or canceled, reason for cancellation, date of surgery, type of procedure and surgeon experience. RESULTS: A total of 176 patients underwent ptosis surgery. From those, 45 patients (25.6%) had only video assessment prior to surgery, 36 patients (80%) eventually underwent ptosis surgery. Surgery was canceled in 20% of the cases: in 2 cases (4.44%) due to misdiagnosis of ptosis during video consultation, confirmed on the day of surgery during pre-surgical face-to-face assessment; the other 7 cases (15.55%) belpharoptosis was confirmed on face-to-face examination but the surgery was canceled due to other reasons. The diagnosis of ptosis assessment via video consultation was corrected in 43 cases (95%) (p_value = 0.156, chi_ square). The accuracy of ptosis diagnosis was 13 out of 15 (86.7%) by fellow assessments and 30 out of 30 (100%) by consultant assessments (p_value = 0.041, chi_ square). In most of the cases ptosis assessment in video consultation included: rough judgment of levator function, eye motility and checking signs of lagophthalmos. CONCLUSIONS: Video consultation is an efficient and reliable way to assess patients with ptosis, with 95% of reliability. Although a thorough ptosis assessment is advised, there was no difference between the accuracy of diagnosis on those who did not have the full suggested assessment.


Assuntos
Blefaroptose , Lagoftalmia , Telemedicina , Adulto , Humanos , Blefaroptose/diagnóstico , Blefaroptose/cirurgia , Reprodutibilidade dos Testes , Estudos Retrospectivos
20.
Artigo em Francês | MEDLINE | ID: mdl-39060147

RESUMO

This article explores the technique of brow lift by direct excision to treat brow ptosis and rejuvenate facial appearance. Current brow lift techniques include thread lifts and traditional surgical methods such as frontotemporal lift and endoscopic lift. Direct excision stands out for its precision and ability to offer long-lasting and aesthetically pleasing results. By adjusting the amount of excised tissue and the suturing technique, surgeons can achieve a significant and harmonious brow lift. However, this method is not ideal for all patients, particularly those with thin or blond eyebrows. The article also highlights the importance of careful evaluation before combining upper blepharoplasty with a brow lift. In conclusion, direct excision is presented as the most effective and durable method for brow lifting, requiring individualized evaluation to ensure optimal aesthetic results.

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