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Journal of Plastic, Reconstructive &... Jul 2021Facial palsy can cause the impairment of eye closure and affect blink, ocular health, communication, and esthetics. Dynamic surgical procedures can restore eye closure...
Facial palsy can cause the impairment of eye closure and affect blink, ocular health, communication, and esthetics. Dynamic surgical procedures can restore eye closure in patients with decreased facial nerve function. There are no standardized measures of voluntary and spontaneous eye closure that are used to evaluate the outcomes of blink restoration procedures. The purpose of this systematic literature review was to identify the measures used to assess normal and abnormal eye closure and blinking in patients with facial palsy. A literature search of the PubMed database using the keyword "facial nerve/surgery" was conducted. Only English language articles that pertain to the use of facial paralysis assessment systems published in the past 20 years, which involve eyelid closure were included. There were 57 articles that used a facial paralysis classification system with an eyelid closure component: House-Brackmann Facial Nerve Grading Scale (n = 43, 67%); Sunnybrook Facial Grading Scale (n = 9); palpebral fissure heights (n = 4), and the electronic clinician-graded facial function tool (n = 3) and three additional measures were reported once. Although the Terzis and Bruno Scoring System, blink ratio, and electronic, clinician-graded facial function scale(eFACE) Clinician-Graded Scoring System were valid measures of eyelid closure, there was no one comprehensive eye assessment that demonstrated all aspects of eye closure in facial palsy, which include closure amplitude, spontaneity, and quality of life. For blink assessment, eFACE is the most comprehensive tool currently available and recommended to be used with a patient-reported quality of life supplement that captures the specific domains related to facial nerve dysfunction.
Topics: Blinking; Eyelids; Facial Nerve; Facial Paralysis; Humans; Neurosurgical Procedures; Recovery of Function
PubMed: 33952434
DOI: 10.1016/j.bjps.2021.03.059 -
Cureus Jan 2024Dupuytren's disease (DD) is a fibroproliferative disorder that manifests as an abnormal growth of myofibroblasts, causing nodule formation and contractures and affecting... (Review)
Review
Comparing Complications and Patient Satisfaction Following Injectable Collagenase Versus Limited Fasciectomy for Dupuytren's Disease: A Systematic Review and Meta-Analysis.
Dupuytren's disease (DD) is a fibroproliferative disorder that manifests as an abnormal growth of myofibroblasts, causing nodule formation and contractures and affecting digit function. If left untreated, these contractures can lead to a loss of mobility and potentially impact hand function. This systematic review critically compares and evaluates the existing literature on the complications and patient satisfaction following injectable collagenase (CCH) versus limited fasciectomy (LF) for DD. We performed a comprehensive search of the PubMed, Medical Literature Analysis and Retrieval System Online (MEDLINE), The Cochrane Library, and Excerpta Medica database (EMBASE) databases from 2006 to August 2023. This research targeted all clinical studies involving adults who underwent injectable collagenase and/or limited fasciectomy in the management of DD. Out of the 437 identified studies, only 53 were considered eligible for our analysis, and merely 14 met our inclusion criteria. These selected studies encompassed a total of 967 patients with 1,344 treated joints, with an average follow-up duration of 19.22 (ranging from one to 84.06) months. Within this cohort, 498 joints from 385 patients underwent LF, while 846 joints from 491 patients received CCH injections. Notably, among the 491 patients treated with CCH, 1,060 complications were reported, averaging 2.15 complications per patient, with the most common being contusion/bruising/hematoma/ecchymosis (22.54%), and edema/swelling (18.96%). In contrast, among the 385 patients treated with LF, only 97 complications were reported, translating to 0.25 complications per patient, with the most frequent being paraesthesia or numbness (23.7%), scar sequelae like skin laceration, tear, fissure, or hypertrophic scar (23.7%), and neuropraxia or nerve injury (22.6%). Our meta-analysis indicates that paraesthesia or numbness is more frequently observed in LF than CCH injections, although without statistical significance, with a risk ratio (RR) of 0.39 (95% confidence interval (CI) 0.13-1.18, p-value 0.1). However, scar sequelae (hypertrophic scar, skin laceration, tear, or fissure) show a contrasting pattern, being more commonly associated with CCH injections than LF, with an RR of 1.98 (95% CI 0.26-14.85, p-value 0.51), which, upon eliminating the source of heterogeneity, becomes statistically significant, with an RR of 4.98 (95% CI 1.40-17.72, p-value 0.01). Our data revealed a higher frequency of complications with CCH compared to LF, although more severe adverse effects were observed in the LF group, such as neuropraxia or nerve injury. Scar sequelae were more common with CCH injections. Despite both treatments showing increased patient satisfaction at the final follow-up, CCH injection resulted in earlier improvements in satisfaction.
PubMed: 38420076
DOI: 10.7759/cureus.53147 -
Ophthalmic Genetics Feb 2022-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteristics. The phenotypic spectrum of -related disorders...
BACKGROUND
-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteristics. The phenotypic spectrum of -related disorders currently includes X-Linked Ohdo Syndrome, Lujan-Fryns Syndrome (LS), and FG syndrome type 1 (FG), also known as Opitz-Kaveggia Syndrome. The gene encodes the largest component of the mediator complex of RNA polymerase II, which is critical for recruiting activators and repressors to regulate the transcription of genes critical to growth, development, and differentiation.
METHODS
We performed a systematic literature review of previously published cases to highlight the key ocular features in individuals with -related disorders. In addition, we present a new case of a female patient with a pathogenic c. 3866A>G, p.Q1289R variant. Ocular manifestations are not uncommon in -related disorders, but have not been characterized in literature reports. Commonly reoccurring reported eye and ocular adnexa features within the spectrum include ptosis, downslanting palpebral fissures, and hypertelorism. Other less common findings include strabismus, astigmatism, and optic nerve hypoplasia.
RESULTS
Our patient presented with developmental delay, mild hypotonia and dysmorphic features including frontal bossing, high arched palate, and syndactyly of the 2 and 3 toes bilaterally.
DISCUSSION
Ocular manifestations identified in this patient included intermittent esotropia, hyperopic astigmatism, epicanthal folds and ptosis bilaterally.
Topics: Astigmatism; Female; Humans; Intellectual Disability; Mediator Complex
PubMed: 34670449
DOI: 10.1080/13816810.2021.1989601 -
Nutrition & Diabetes Aug 2022Brain structure abnormality in patients with type 2 diabetes mellitus (T2DM)-related cognitive dysfunction (T2DM-CD) has been reported for decades in magnetic resonance... (Meta-Analysis)
Meta-Analysis
AIMS/HYPOTHESIS
Brain structure abnormality in patients with type 2 diabetes mellitus (T2DM)-related cognitive dysfunction (T2DM-CD) has been reported for decades in magnetic resonance imaging (MRI) studies. However, the reliable results were still unclear. This study aimed to make a systemic review and meta-analysis to find the significant and consistent gray matter (GM) and white matter (WM) alterations in patients with T2DM-CD by comparing with the healthy controls (HCs).
METHODS
Published studies were systemically searched from PubMed, MEDLINE, Cochrane Library and Web of Science databases updated to November 14, 2021. Studies reporting abnormal GM or WM between patients with T2DM-CD and HCs were selected, and their significant peak coordinates (x, y, z) and effect sizes (z-score or t-value) were extracted to perform a voxel-based meta-analysis by anisotropic effect size-signed differential mapping (AES-SDM) 5.15 software.
RESULTS
Total 15 studies and 16 datasets (1550 participants) from 7531 results were involved in this study. Compared to HCs, patients with T2DM-CD showed significant and consistent decreased GM in right superior frontal gyrus, medial orbital (PFCventmed. R, BA 11), left superior temporal gyrus (STG. L, BA 48), and right calcarine fissure / surrounding cortex (CAL. R, BA 17), as well as decreased fractional anisotropy (FA) in right inferior network, inferior fronto-occipital fasciculus (IFOF. R), right inferior network, longitudinal fasciculus (ILF. R), and undefined area (32, -60, -42) of cerebellum. Meta-regression showed the positive relationship between decreased GM in PFCventmed.R and MoCA score, the positive relationship between decreased GM in STG.L and BMI, as well as the positive relationship between the decreased FA in IFOF.R and age or BMI.
CONCLUSIONS/INTERPRETATION
T2DM impairs the cognitive function by affecting the specific brain structures. GM atrophy in PFCventmed. R (BA 11), STG. L (BA 48), and CAL. R (BA 17), as well as WM injury in IFOF. R, ILF. R, and undefined area (32, -60, -42) of cerebellum. And those brain regions may be valuable targets for future researches. Age, BMI, and MoCA score have a potential influence on the altered GM or WM in T2DM-CD.
Topics: Brain; Cognitive Dysfunction; Diabetes Mellitus, Type 2; Gray Matter; Humans; White Matter
PubMed: 35970833
DOI: 10.1038/s41387-022-00214-2 -
Dermatology (Basel, Switzerland) 2021To systematically review all cases of orofacial granulomatosis (OFG) and evaluate the association between OFG and Crohn disease (CD).
BACKGROUND
To systematically review all cases of orofacial granulomatosis (OFG) and evaluate the association between OFG and Crohn disease (CD).
SUMMARY
This review was conducted according to PRISMA guidelines and a search of the PubMed, MEDLINE, and Embase databases, and the Cochrane Library in March 2020, using keywords and MeSH terms associated with "orofacial granulomatosis," "Crohn disease," and their variants, with no language restrictions and across all age groups. All relevant articles were accessed in full text. Single case reports and articles on sarcoidosis, allergy, ulcerative colitis, and infectious diseases were excluded from the analysis.
RESULTS
We retrieved 507 reports on OFG. The mean age at onset was 23.3 years (range 2-89 years). A total of 240 (47.3%) females and 267 (52.6%) males were included. CD was present in 93 children aged <16 years (68.3%) and in 43 adults (31.9%). In most cases, the OFG appeared before the CD. The most common clinical manifestations were intraoral mucosa abnormalities (n = 251; 49.5%), lower-lip swelling (n = 249; 49.1%), upper-lip swelling (n = 227; 44.7%), and gingivae (n = 193; 38.7%). Patients with concurrent CD were more likely to experience involvement of the buccal sulcus. Key Messages: OFG presents primarily as a solo entity. The OFG that was associated with CD was present in 93 children aged under 16 years (68.3%) and in 43 adults (31.9%). Childhood onset of OFG carries with it a higher risk of developing CD.
Topics: Crohn Disease; Granulomatosis, Orofacial; Humans
PubMed: 33582676
DOI: 10.1159/000513446 -
Frontiers in Human Neuroscience 2022Previous studies on voxel-based morphometry (VBM) have found that there were gray matter alterations in patients with hepatic encephalopathy (HE). However, the reported...
BACKGROUND
Previous studies on voxel-based morphometry (VBM) have found that there were gray matter alterations in patients with hepatic encephalopathy (HE). However, the reported results were inconsistent and lack a quantitative review. Therefore, this study aims for a quantitative meta-analysis of VBM analysis on patients with HE.
METHODS
The studies in our meta-analysis were collected from Pubmed, Web of Science, and Embase, which were published from January 1947 to October 2021. The seed-based d mapping (SDM) method was applied to quantitatively estimate the regional gray matter abnormalities in patients with HE. A meta-regression analysis was applied to evaluate the relationship between plasma ammonia and gray matter alteration.
RESULTS
There were nine studies, with sixteen datasets consisting of 333 participants with HE and 429 healthy controls. The pooled and subgroup meta-analyses showed an increase in gray matter volume (GMV) in the bilateral thalamus and the calcarine fissure but a decrease in the GMV in the bilateral insula, the basal ganglia, the anterior cingulate gyrus, and the cerebellum. The meta-regression showed that plasma ammonia was positively associated with the GMV in the left thalamus but was negatively associated with the GMV in the cerebellum and the bilateral striatum.
CONCLUSION
Gray matter volume in patients with HE largely varied and could be affected by plasma ammonia. The findings of this study could help us to better understand the pathophysiology of cognitive dysfunction in patients with HE.
PubMed: 35517986
DOI: 10.3389/fnhum.2022.838666 -
Systematic Reviews Apr 2022Down syndrome (DS) is a chromosomal anomaly that is characterized by an extra chromosome 21. Ophthalmological manifestations have a high prevalence in patients with DS.
BACKGROUND
Down syndrome (DS) is a chromosomal anomaly that is characterized by an extra chromosome 21. Ophthalmological manifestations have a high prevalence in patients with DS.
PURPOSE
To review the scientific evidence and estimate the prevalence of ophthalmological manifestations in the pediatric population with DS.
DATA SOURCES
Electronic databases including MEDLINE, Cochrane Library, EMBASE, ScienceDirect, and LILACS.
STUDY ELIGIBILITY CRITERIA
Published observational studies with available and original data were included. Articles were excluded if the study design was a review, letter to the editor, case report, case series, or systematic review and if the subjects had ophthalmological manifestations secondary to other conditions.
PARTICIPANTS AND INTERVENTIONS
Pediatric and adolescent population with DS and with ophthalmological evaluation.
STUDY APPRAISAL AND SYNTHESIS METHODS
A data collection form was designed in Excel. Five reviewers extracted relevant details about the design and results of each study. The quality of the studies was assessed by applying the tools for systematic reviews of prevalence and incidence from the Joanna Briggs Institute. We calculated the weighted prevalence of ophthalmological manifestations, considering only the studies reporting the measurement of each manifestation.
RESULTS
Twenty-two articles (from 15 countries, published during 1994-2020) were included in the present systematic review. Ocular manifestations were observed in 85% of the studied pediatric and adolescent populations with DS. The most frequent ones were slanting fissures, oblique fissures, epicanthus, and epiblepharon.
CONCLUSION
The ocular manifestations in the pediatric and adolescent populations with DS are varied, and some can irreversibly affect visual development. Screening of the pediatric population with DS should be conducted from the first months of age and continued annually.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO CRD42019127717.
Topics: Adolescent; Child; Down Syndrome; Humans; Incidence; Prevalence
PubMed: 35459223
DOI: 10.1186/s13643-022-01940-5 -
World Neurosurgery Jan 2018Arachnoid cyst (AC)-associated chronic subdural hematoma (CSDH) differs significantly from its counterparts without AC in epidemiologic, demographic, and clinical... (Review)
Review
BACKGROUND
Arachnoid cyst (AC)-associated chronic subdural hematoma (CSDH) differs significantly from its counterparts without AC in epidemiologic, demographic, and clinical characteristics, as well as in management and prognosis. This study was conducted to further examine the epidemiologic, demographic, and clinical characteristics; diagnosis; treatment; and prognosis of AC-associated CSDH.
METHODS
This was a retrospective study of the medical records at the neurosurgical departments of 2 institutions along with a systematic PubMed search for relevant studies published in English or Chinese.
RESULTS
A total of 182 patients (148 males; 81.3%) were evaluated, including 14 cases in our present series. The patients ranged in age from 1 to 80 years (mean age, 24.41 ± 13.69 years). Among the 175 patients with adequate prehospital history information, 119 (68%) had a history of recent head trauma or sport-related injury. AC locations included the middle fossa and sylvian fissure in 162 cases (89.0%), cerebral convexity in 17 cases (9.3%), posterior fossa in 2 cases (1.1%), and interhemispheric fissure in 1 case (0.5%). Among the 161 patients with specific data on outcomes, 159 (98.8%) had favorable recovery, 1 patient had an evident neurologic deficit, and 1 patient died from cardiac arrest.
CONCLUSIONS
CSDH is a rare complication in patients with intracranial AC. Male children, juveniles, and young adults with recent head trauma or sport-related injury are most commonly inflicted. Burr hole drainage is the first-choice surgical procedure in symptomatic patients and is still effective in some recurrent cases. Fenestration or resection of the AC membrane is not a requisite in patients with previous asymptomatic AC.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Arachnoid Cysts; Child; Child, Preschool; Female; Hematoma, Subdural, Chronic; Humans; Infant; Male; Middle Aged; Retrospective Studies; Young Adult
PubMed: 28962953
DOI: 10.1016/j.wneu.2017.09.115 -
Child's Nervous System : ChNS :... May 2024To investigate the treatment plan and prognosis of children with ocular dyskinesia and hemifacial spasm secondary to pontine tumours adjacent to the fourth ventricle.
OBJECTIVE
To investigate the treatment plan and prognosis of children with ocular dyskinesia and hemifacial spasm secondary to pontine tumours adjacent to the fourth ventricle.
METHODS
In this retrospective study, the clinical information of 10 consecutively collected children with ocular dyskinesia and hemifacial spasm secondary to pontine tumours adjacent to the fourth ventricle was analyzed. All 10 children underwent pontine tumour resection through a trans-cerebellomedullary fissure approach; 4 children underwent preoperative diffusion tensor imaging scans to determine the relationship between the tumour and facial nerve nucleus, and the other 6 children underwent intraoperative deep electroencephalography (EEG) tumour monitoring, in which the tumour electrical discharge activity of the tumour was recorded. A voxel distribution map was established to describe the distribution of the tumour location, and patient prognosis was evaluated through clinical and imaging follow-up.
RESULTS
All 10 children achieved total tumour resection; 9 tumours were pathologically suggested to be ganglioglioma (WHO grade I), and 1 was a hamartoma. The symptoms of the original ocular dyskinesia and hemifacial spasm disappeared immediately after the operation. The children were followed up for 4-75 months, and none of the symptoms recurred; four cases with preoperative diffusion tensor imaging showed that the tumour was close to the facial nerve. Four in six intraoperative electrophysiological monitoring showed that the tumour had electrical discharge behaviour, and the tumour distribution map indicates a high density of tumour presence in the facial nerve nucleus and the nucleus of the abducens nerve.
CONCLUSIONS
In paediatric patients, the facial symptoms are related to the location and abnormal electrical discharge of the tumour. There is no significant correlation between ocular dyskinesia and the location of the tumour. Conventional antiepileptic therapy for this disease is ineffective, and early surgical intervention for total tumour resection can achieve a clinical curative effect.
Topics: Humans; Child; Hemifacial Spasm; Retrospective Studies; Fourth Ventricle; Diffusion Tensor Imaging; Neoplasm Recurrence, Local; Facial Nerve; Brain Stem Neoplasms; Treatment Outcome
PubMed: 38227027
DOI: 10.1007/s00381-024-06280-4 -
Clinical Neurology and Neurosurgery Nov 2022Spontaneous resolution of syringomyelia has rarely been reported in the literature. Rarer still are cases wherein this process is associated with pregnancy and... (Review)
Review
BACKGROUND
Spontaneous resolution of syringomyelia has rarely been reported in the literature. Rarer still are cases wherein this process is associated with pregnancy and parturition. We review theories on syringomyelia development and spontaneous resolution to better understand the role pregnancy and parturition may play in both processes.
METHODS
We present a 30-year-old female with MRI-confirmed spontaneous syrinx regression following caesarean delivery of a full-term pregnancy. We additionally review the literature to identify previously reported cases of spontaneous syrinx regression both independent of and associated with pregnancy.
RESULTS
Including the present case, 39 cases describing spontaneous regression of syringomyelia have been reported in the literature, of which only four are associated with pregnancy and parturition. 75% of all reported cases were associated with type I Chiari malformation, though several disorders of the craniocervical junction and spinal canal were implicated. Complete syrinx regression was achieved in 33.3% of cases and 5% of cases described recurrence of syringomyelia following the spontaneous resolution.
CONCLUSION
Syringomyelia likely develops due to disturbance of the physiologic flow of cerebrospinal fluid around the craniocervical junction and the obex. Several mechanisms including fissuring of the spinal cord parenchyma and reduction of subarachnoid scarring are likely involved in this process. In the setting of pregnancy, additional mechanisms surrounding the increased intraabdominal forces imparted by a growing fetus, Valsalva-like strain experienced during labor, and hemodynamic changes that occur to accommodate gestation are likely implicated. Nevertheless, patients should continue to be monitored periodically for syrinx recurrence.
Topics: Pregnancy; Female; Humans; Adult; Syringomyelia; Arnold-Chiari Malformation; Subarachnoid Space; Magnetic Resonance Imaging; Parturition
PubMed: 36049402
DOI: 10.1016/j.clineuro.2022.107413