Search

Objective To compare the efficacy of three surgical methods in clinical treatment of blepharoptosis: conjoint fascial sheath suspension, frontalis muscle suspension, and shortening of musculus levator palpebrae superioris. Methods Articles related to the three surgical methods were retrieved from Chinese and English databases such as CNKI, Wanfang, VIP, PubMed, Embase, and The Cochrane Library. Data were extracted for network Meta-analysis. Results This study included 28 studies and 1 816 patients. Meta-analysis showed that conjoint fascial sheath suspension outperformed frontalis muscle suspension and shortening of musculus levator palpebrae superioris. Moreover, there was no significant difference between frontalis muscle suspension and shortening of musculus levator palpebrae superioris. The SUCRA curve predicted that the efficacy of three surgical methods in clinical treatment of blepharoptosis was in the following order: conjoint fascial sheath suspension > frontalis muscle flap suspension > shortening of musculus levator palpebrae superioris. Conclusion In the surgical treatment of blepharoptosis, conjoint fascial sheath suspension shows the best outcome. However, plastic surgeons should make comprehensive choices based on the actual clinical situation.

Objective To seek the prognostic markers for the gastric cancer (GC) patients, and to achieve the early diagnosis and treatment of GC, and to provide the evidence for improving the survival rate of the GC patients. Methods The clinical data and transcriptome data of 407 and 433 GC patients were downloaded from the The Cancer Genome Atlas（TCGA) Database and GSE84437 Dataset, and merged; the GC tissue samples were classified and typed based on the expression levels of cell death-related genes and the ConsensusClusterPlus Package，and were divided into type A（342 cases) and type B（465 cases); the GC patients were divided into low expression group and high expression group according to the expression level of apolipoprotein D（APOD)；the survminer Data Package was used to compare the differences in prognosis of the patients with different subtypes；the ssGSEA Algorithm was used to compare the differences in immune cell infiltration of the patients with different subtypes; Lasso regression and Cox regression were used to construct the prognostic risk model for the GC patients; the clinical characteristics of model genes were filtered；the differential expression of APOD in adjacent normal tissue and GC tissue was analyzed by Public Databases；GSEA analysis was used to assess the Kyoto Encyclopedia of Genes and Genomes (KEGG) signaling pathway enrichment of APOD; the CIBERSORT Algorithm was used to evaluate the correlation between the content of immune cells and expression of APOD；the online website was used to analyze the drug sensitivity of APOD. Results There was statistically significant difference in prognosis of the patients with two subtypes of cell pyroptosis（P=0.002) ; the levels of 22 kinds of immune cells of the patients with type A were higher than those with type B（P [ABSTRACT FROM AUTHOR]

Ferroptosis is an iron-dependent, non-apoptotic programmed cell death characterized by iron metabolism disorder that leads to intracellular iron overload, which induces lipid peroxidation through fenton reaction and activates ferroptosis. Ferroptosis is associated with many diseases, among which the relationship with abdominal aortic aneurysm has come into attention in the last few years. Abdominal aortic aneurysm is a degenerative disease characterized by structural destruction and irreversible dilation of the abdominal aortic wall. Its pathogenesis is related to oxidative stress, inflammation, loss of vascular smooth muscle cells and vascular calcification. Ferroptosis may play a role in the development of abdominal aortic aneurysm through the above pathways. Therefore, this paper reviews the pathogenesis of ferroptosis and abdominal aortic aneurysm, providing a new idea and target for the abdominal aortic aneurysm treatment. [ABSTRACT FROM AUTHOR]

This paper summarized the whole process of nursing intervention for a patient with oculomotor paralysis caused by systemic lupus erythematosus. Responsible nurses were involved throughout the process, in which overall evaluation of disease condition, routine nursing management, auricular point needle combined with auricular point pressing therapy were carried out. Targeted nursing plan should be made based on the overall evaluation and Traditional Chinese Medicine syndrome differentiation, in order to improve the rehabilitation of the patient. (本文总结1例系统性红斑狼疮(SLE)致动眼神经麻痹患者的护理经验, 包括整体评估、常规护理、耳针联合耳穴贴压等, 根据患者的评估结果和中医辨证, 制定针对性的护理方案, 有助于促进患者康复。)

Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

In the past decade, the aesthetic needs of patients for eyes have changed, leading to some changes in the focus of cosmetic eyelid surgery and the knowledge structure of eyelid plastic surgeons. With the further research in relevant fields, new concepts, new opinions, new technologies and new problems appear constantly, and some disputes have also followed. In this article, we talked about some hot issues concerned in the field of cosmetic and reconstructive eyelid surgery. [ABSTRACT FROM AUTHOR]

Objective To investigate the clinical application of acellular human dermis graft (Alloderm) for reconstruction of posterior upper eyelid and inner canthus defects. Methods From September 2020 to April 2021, 7 cases of patients with full-thickness upper eyelid and/or inner canthus defects, by using Alloderm as posterior lamella and pedicled flap as anterior lamella, were analyzed retrospectively. Four cases were upper eyelid defects, 1 case was inner canthus and upper eyelid defects, 2 cases were inner canthus and upper, lower eyelid defects. Follow-up was performed to evaluate complications and surgical results. Results All cases were followed-up for 6 to 12 months with good surface conjunctivization and stable tarsal support, without corneal irritation, symblepharon, entropion or ectropion. All patients had no conjunctival hyperemia, foreign body sensation and other symptoms. Eye movement was good. No symblepharon, entropion or eversion of the eyelids occurred. The effective repair rate was 85.7%. Four cases were cured, 1 case was markedly improved, and 1 case was improved. Conclusion Alloderm can avoid corneal injury and symblepharon. This method is a good substitute material for reconstruction of posterior upper eyelid and inner canthus defects. [ABSTRACT FROM AUTHOR]

OBJECTIVE: To probe into the antidepressant function and mechanism of Zhibai Anshen oral liquid. METHODS: The effect of Zhibai Anshen oral liquid on the improvement of depression in mice were observed by the mouse despair model and the reserpine antagonistic depression model; the effect of Zhibai Anshen oral liquid in inhibiting the monoamine oxidase and reuptake of monoamine transmitters were observed according to the monoamine hypothesis theory. RESULTS: Zhibai Anshen oral liquid can significantly shorten the duration of tail suspension and forced swimming immobility in mice, and significantly reduced the eyelid ptosis in mice, which suggested that Zhibai Anshen oral liquid had antidepressant effect. The results of mechanism study showed that Zhibai Anshen oral liquid had no significant inhibitory effect on the reuptake of dopamine; while it had significant inhibitory effect on the reuptake 5-hydroxytryptamine and norepinephrine; and had significant enhancement on the forelimb spastic behavior of rats induced by tryptamine hydrochloride. CONCLUSIONS: Zhibai Anshen oral liquid has antidepressant effect, and the mechanism may be related to the enhancement of 5-hydroxytryptamine and norepinephrine neurotransmitter effect in brain and the inhibition of monoamine oxidase. [ABSTRACT FROM AUTHOR]

Objective To evaluate the clinical effect of a modified frontalis muscle flap suspension for severe ptosis. Methods Two hundred and fourteen patients (285 eyes) with severe ptosis underwent a modified frontalis muscle flap suspension approach. The surgical approach was a crease incision, and a nasal vertical incision of frontal muscle flap was made on temporal side of supraorbital notch without temporal vertical incision. The subcutaneous separation of frontal muscle began at the lower edge of the eyebrow and ended at 5 mm above the eyebrow and the ventral separation ended under the upper edge of the orbit. The marginal reflex distance (MRD1), symmetry of height, contour and complications before and after surgery were compared. Results The average follow-up period was (10.2 ± 3.1) months. The postoperative MRD1 was higher than that before operation [(3.2±0.7) mm vs. (-0.5±0.8) mm，t=58.760, P＜0.01], and the upper eyelid activity increased significantly [(11.2±1.4) mm vs. (3.5±0.8) mm，t=80.617, P＜0.01]. One hundred and ninety patients (253 eyes) achieved their desired lid height and contour, with a final success rate of 88.8%. Complications such as entropion, exposure keratitis，frontal paralysis, frontal hypoesthesia, severe hematoma were not seen in our series. Conclusion The modified frontalis muscle suspension technique shows a high success rate with less bleeding, mild damage and fewer complications. It is a reasonable alternative treatment in severe ptosis. [ABSTRACT FROM AUTHOR]

Objective To investigate the clinical symptoms and molecular biological characteristics in a family with oculopharyngeal muscular dystrophy (OPMD). Methods Clinical data of the family members were collected. Genomic DNA were isolated from peripheral blood of 6 family members including the probands for polymerase chain reaction (PCR). TA cloning followed by Sanger DNA sequencing was conducted for detecting PABPN1 gene mutations. Results The first symptom of the 4 family members in OPMD pedigree was ptosis at 50 - years - old. The clinical symptoms of pharyngeal muscles involved in gradually dysphagia. Genetic testing found: the proband (II 3), the second sister of the proband (II 2), the fourth brother of the proband (II 4), and the fifth sister of the proband (II 5) had abnormal amplification of (GCN) repeat, (GCN)10/(GCN)13 in exon 1 of PABPN1 gene, which was identified in 4 members of the family who conducted the genetic testing. There was a dominant inheritance pattern in the lineage. The final diagnosis was OPMD, and the family was diagnosed as OPMD. Conclusions Clinical symptoms play a decisive role in the detection of the disease, thus genetic testing is the ctritical factor to the diagnosis and prevention of oculopharyngeal muscular dystrophy, which provides necessary information for choosing treatments and genetic counseling. [ABSTRACT FROM AUTHOR]

Objective To evaluate the efficacy and safety of conjoint fascial sheath suspension and frontalis muscle flap suspension in the treatment of moderate and severe blepharoptosis. Methods The literatures published in CNKI, WANFANG, CQVIP, PUBMED and EMBASE from 1st January 2010 to 31st December 2019 were searched. The relevant studies suitable for this meta-analysis were determined. The effective rate of blepharoptosis correction and incidence rate of postoperative complications were served as evaluation indexes. The relevant data were extracted. The effective rate of blepharoptosis correction and the RR value and 95% confidence interval of incidence rate of postoperative complications were calculated, respectively. Results The effective rate of correction of conjoint fascial sheath suspension was higher than that of frontalis muscle flap suspension (P<0.05), and the incidence rate of complications was lower than that of frontalis muscle flap suspension (P<0.05). Conclusion The efficacy and safety of conjoint fascial sheath suspension in the treatment of moderate and severe blepharoptosis is better than frontalis muscle flap suspension. The corresponding operation should be selected according to the actual situation of patients. [ABSTRACT FROM AUTHOR]

Objective To explore the efficacy of frontalis muscle suspension through temporal-fasciae-complex sheet in the treatment of severe blepharoptosis. Methods From March 2010 to June 2019, 28 patients (36 eyelids) with severe blepharoptosis were collected. An incision in the temporal region was made to harvest deep temporal fascia with the loose connective tissue attached on both sides. Through the tunnel below orbicularis oculi muscle, the tarsal plate was suspended to the frontalis muscle by temporal-fasciae-complex sheet. The postoperative efficacy was evaluated by marginal reflex distance 1 (MRD1), marginal reflex distance 1 as lifting eyebrow forcefully (MRD1F), eyelid excursion and closable eyelid function. Results All 28 patients were followed-up for 12 to 36 months. The upper eyelid margins were located above the pupil upper margins when patients were under horizontal vision. The appearance was natural. There was a statistically significant difference among the preoperative and postoperative MRD1, MRD1F and eyelid excursion (P<0.05). No recurrence and severe complications were found during the follow-up period. Conclusion The frontalis muscle suspension through temporal-fasciae-complex sheet is an effective method to correct severe blepharoptosis. This method can overcome the postoperative adhesion and provide even bionic lifting force. The appearance of upper eyelid is good after operation and the recurrence is low. [ABSTRACT FROM AUTHOR]

Objective To explore the clinical application and efficacy of eye-blinking exercise and eyebrow-pressing in strengthening the levator palpebrae superioris muscle and improving the muscle force. Methods From March 2018 to October 2019, the initial palpebral fissure width of 46 subjects (92 sides) were measured. Both eyes looking forward straight through a fixation point a. A fixation point b was taken within the visual range. The point a and b should met (1) in the same vertical plane; (2) the horizontal plane of point b location was slightly higher than that of point a. The measurement was performed for 3 times and the average value was recorded as initial palpebral fissure width. From the first day of measurement, all subjects were guided to close their eyes lightly and to press their eyebrows with the ring finger on the upper edge of the eyebrow, the middle finger on the middle eyebrow and the index finger on the eye brow tail. The pressure on eyebrow should be controlled in such condition that the eyebrow can't be moved during the eye-blinking process. The intensity was doing eye-blinking exercise with 120% of the normal eye-opening tension or 60% to 80% of the maximum eye-opening tension. The frequency was 4 rounds of eye-blinking process in the morning, afternoon and evening, 12 times a round with an internal of 10 seconds. Keep exercise every day for 3 months. All subjects were followed up after exercise finished. The palpebral fissure width was measured, the average value was calculated and the palpebral fissure width after exercise was recorded. Results The maximum widening of palpebral fissure was 4.3 mm and the minimum was -1.1 mm, with an average of 1.3 mm in 46 subjects (92 sides). Conclusion Blinking exercise could strengthen the levator palpebral superioris muscle and improve the muscle force. [ABSTRACT FROM AUTHOR]

In recent years, the application of conjoint fascial sheath (CFS) suspension in the correction of blepharoptosis has rapidly become a hot spot in the field of eyelid plastic surgery in China. We reviewed the history of the CFS, described the updated methods and results of anatomical research of the CFS focused on controversial problems, analyzed the current status, and prospected the possible future development of CFS suspension in the correction of blepharoptosis. [ABSTRACT FROM AUTHOR]

Objective To study the mechanism and principle of the suspension of the check ligament of the upper fornix for correction of blepharoptosis. Methods A total of 20 eyeball specimens were collected from 10 fresh adult Chinese cadavers. Under the state of simulated physiology, a model of blepharoptosis was established, and after correction of blepharoptosis with suspension of the check ligament of the upper fornix, the contraction of the musculus rectus superior and the musculus levator palpebrae superioris was observed and the extent of the upper eyelid elevation was measured. Results Under physiological conditions, the main mechanical force of eyelid elevation was the musculus levator palpebrae superioris. The musculus rectus superior can also provide a lesser elevation. In the model of blepharoptosis, the function of the musculus levator palpebrae superioris and the musculus rectus superior was weakened at different degrees. After suspension of the check ligament on the blepharoptosis specimen, there was an immediate elevation of the eyelid. The musculus levator palpebrae superioris was able to provide the same palpebral plate elevation as the physiological state in a shorter contraction condition. At the same time, the function of the musculus rectus superior was also strengthened. Conclusion In the correction of the blepharoptosis with suspension of the check ligament of the upper fornix, the mechanism of eyelid elevation was composed of static suspension force and muscle contraction dynamic suspension force. When the musculus levator palpebrae superioris was functioning normally, the main force of the postoperative dynamic suspension was provided by the contraction of the musculus levator palpebrae superioris. The musculus rectus superior provided little additional force. When the function of the musculus levator palpebrae superioris was mild, moderate, or poor, the postoperative dynamic contraction force mainly came from the stronger muscle. Post-operatively, if the function of the musculus levator palpebrae superioris was completely lost, only a contraction of the musculus rectus superior could be used to dynamically lift the palpebral plate. Therefore, it is necessary to carry out detailed physical examinations in clinic for patients with different muscle function and thoroughly grasp the indications for surgery. [ABSTRACT FROM AUTHOR]

Objective To compare the sensitivity and specificity of ice test, neostigmine test and single fiber electromyography (SFEMG) in the diagnosis of ocular myasthenia gravis (OMG), so as to establish an appropriate process for the diagnosis of OMG. Methods A total of 116 patients with newly onset ptosis and/or diplopia were detected by ice test, neostigmine test and SFEMG. Patients were followed up for 6 months to observe the disease changes and experimental treatment effects. Results Apart from patients whose diagnosis was in doubt or lost to follow - up, and who were diagnosed as generalized myasthenia gravis (GMG), the definite diagnosis was finally made in 81 patients, including 21 OMG patients and 60 patients with ptosis and/or diplopia caused by other diseases. The sensitivity of ice test for diagnosis of OMG was 95.24% (20/21), and specificity was 98.33%(59/60). The sensitivity of neostigmine test for diagnosis of OMG was 90.48% (19/21), and specificity was 85% (51/60). The sensitivity of SFEMG for diagnosis of OMG was 95.24% (20/21), and specificity was 80% (48/60). Among 3 tests, only specificity was found significant difference (χ2 = 5.232, P = 0.022). The specificity of ice test was better than that of neostigmine test (χ2 = 5.707, P = 0.017) and SFEMG (χ2 = 6.023, P = 0.014). Conclusions The ice test achieved high sensitivity and specificity in the diagnosis of OMG. The combination of ice test, neostigmine test and SFEMG may have important clinical value for the early diagnosis of OMG. DOI: 10.3969/j.issn.1672-6731.2016.10.008

Mitochondrial myopathy is a group of multi-system diseases in which mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) defects lead to structural and functional dysfunction of mitochondria. The clinical manifestations of mitochondrial myopathy are complex and varied, and the testing for mtDNA and nDNA is not widely available, so misdiagnosis or missed diagnosis is common. Chronic progressive external ophthalmoplegia (CPEO) is a common type of mitochondrial myopathy, which is characterized by blepharoptosis. Here we report a 38-year-old female with mitochondrial myopathy presented with chronic numbness and weakness of the limbs, accompanied by blepharoptosis that was recently noticed. Laboratory and head magnetic resonance imaging (MRI) examinations showed no obvious abnormalities. Muscle and nerve biopsies showed characteristic ragged red fibers (RRFs) and large aggregates of denatured mitochondria. Testing for mtDNA and nDNA showed a known mutation c.2857C>T (p.R953C) and a novel variant c.2391G>C (p.M797I) in the polymerase gamma ( POLG )gene, so the patient was diagnosed as mitochondrial myopathy. Clinicians should pay more attention to long-term unexplained skeletal muscle diseases with recent onset blepharoptosis. Histopathologic examination and genetic testing are of great value in the early diagnosis and therapeutic intervention.

Monocular elevation deficiency (MED) is a functional defect in upward eye movement caused by paralysis, restriction, or a combination of factors. The affected eye experiences limited movement in the upward, nasal, and temporal directions, often accompanied by downward deviation and ptosis. Previously known as double elevator palsy (DEP), MED can result from muscle paralysis responsible for upward movement, restriction of the inferior rectus muscle, or lesions in the supranuclear pathway. The Knapp procedure was once the most commonly used surgical approach for MED. However, in cases involving restriction of the inferior rectus muscle, a staged approach combining inferior rectus muscle weakening and subsequent Knapp procedure is necessary to avoid anterior segment ischemia. This has led to the development of alternative surgical techniques, such as single-rectus muscle transposition, partial tendon transposition, and muscle belly transposition. Differentiating MED subtypes based on the underlying paralysis or restriction etiology is crucial for determining the appropriate surgical plan. This review article summarizes the clinical features, classification, and available surgical options for MED, aiming to provide valuable insights for clinical research and treatment.

Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective To compare the efficacy of frontalis muscle flap suspension and shortening of the musculus levator palpebrae superioris in the treatment of congenital severe blepharoptosis. Methods We independently searched 6 databases including the Wanfang Database, VIP Database, CNKI, Pubmed, Web of Science, Science Direction Online, and the Cochrane Library. The randomized and non-randomized controlled trials for comparing frontalis muscle flap suspension and shortening of the musculus levator palpebrae superioris in the treatment of congenital severe blepharoptosis were collected. The literature screening process and data extraction were performed according to inclusion and exclusion criteria. The quality of included studies was assessed by the Jadad Scale. The meta-analysis of primary outcomes was performed by Review Manager 5.3 and Stata15.0. Results A total of 11 clinical trials were involved in this study, including 648 patients. Frontalis muscle flap suspension was performed in the experimental group and shortening of the musculus levator palpebrae superioris was performed in the control group. The OR value of postoperative satisfaction between the 2 groups was 2.11 (95% CI: 1.40, 3.18), the failure rate of surgery was 0.47 (95% CI: 0.26, 0.85), and the incidence rate of complications was 0.58 (95% CI: 0.34,0.97). All differences were statistically significant (P<0.05). Conclusion Both frontalis muscle flap suspension and shortening of the musculus levator palpebrae superioris achieved satisfactory results in the treatment of congenital severe blepharoptosis. However, frontalis muscle flap suspension was safer and more reliable, and patient satisfaction was high. Therefore, frontalis muscle flap suspension was the better method to popularize in clinic. [ABSTRACT FROM AUTHOR]

We report a case of adult-onset dystonia presenting with chronic progressive external ophthalmoplegia. The patient had ptosis in both eyes, particularly the left eye, for no obvious reason since the age of 10, which was progressively aggravated. The clinical diagnosis was chronic progressive external ophthalmoplegia. However, whole gene sequencing revealed the mitochondrial A3796G missense mutation, so the patient was clearly diagnosed as adult-onset dystonia and given treatment to reduce blood glucose and improve muscle metabolism. The A3796G mutation in the ND1 subunit of the mitochondrial complex leading to ophthalmoplegia is relatively rare, requiring a combination with genetic testing for confirmation of diagnosis.

Objective To compare the sensitivity and specificity of ice test, neostigmine test and single fiber electromyography (SFEMG) in the diagnosis of ocular myasthenia gravis (OMG), so as to establish an appropriate process for the diagnosis of OMG. Methods A total of 116 patients with newly onset ptosis and/or diplopia were detected by ice test, neostigmine test and SFEMG. Patients were followed up for 6 months to observe the disease changes and experimental treatment effects. Results Apart from patients whose diagnosis was in doubt or lost to follow - up, and who were diagnosed as generalized myasthenia gravis (GMG), the definite diagnosis was finally made in 81 patients, including 21 OMG patients and 60 patients with ptosis and/or diplopia caused by other diseases. The sensitivity of ice test for diagnosis of OMG was 95.24% (20/21), and specificity was 98.33% (59/60). The sensitivity of neostigmine test for diagnosis of OMG was 90.48% (19/21), and specificity was 85% (51/60). The sensitivity of SFEMG for diagnosis of OMG was 95.24% (20/21), and specificity was 80% (48/60). Among 3 tests, only specificity was found significant difference (χ² = 5.232, P = 0.022). The specificity of ice test was better than that of neostigmine test (χ² = 5.707, P = 0.017) and SFEMG (χ² = 6.023, P = 0.014). Conclusions The ice test achieved high sensitivity and specificity in the diagnosis of OMG. The combination of ice test, neostigmine test and SFEMG may have important clinical value for the early diagnosis of OMG. [ABSTRACT FROM AUTHOR]

Silicone oil insertion is a common modality in vitreoretinal surgeries after ocular perforating injury. It needs surgical removal after several months. Extraocular silicone oil migration to orbit and eyelid is uncommon complication. We reports a case of silicone oil migration to orbit and eyelid. A 41-year-old male presented with left upper eyelid swelling following silicone oil injection 3 years before admission. Orbital computed tomography scan showed multiple high-density well-defined masses in vitreous, left upper eyelid and orbit. We diagnosed the patient with orbital and eyelid mass, meanwhile, speculated mechanical ptosis. Excision of orbital and eyelid masses were performed. Cystic spaces with delicate fibrous wall and small vessels, and clear fluid in cyst were discovered on histologic examination. The patient was followed up after 1 week. The left upper eyelid slightly depressed and the mechanical ptosis was significantly improved.

Objective: To analyze the genotype and clinical phenotype of a 3-month-old female infant featuring unresponsiveness., Methods: The infant was subjected to genetic testing, and her clinical features were compared with syndromes associated with variants of the candidate gene., Results: The patient has featured long fingers, long and overlapped toes, musk-like face, blepharophimosis, ptosis, and lacrimal duct anomaly. She was found to harbor a heterozygous de novo variant NM&#95;012330.3: c.3040C>T (p.Gln1014*) in exon 16 of the KAT6B gene. Her clinical phenotype and genotype have both conformed to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS)., Conclusion: The child was diagnosed with SBBYSS syndrome due to the c.3040C>T (p.Gln1014*) variant of the the KAT6B gene. Discovery of the unique features has expanded the phenotypic spectrum of this syndrome.

A boy, aged 1 year and 7 months, was hospitalized due to weakness in both lower limbs and blepharoptosis, which showed progressive aggravation and developed into irregular breathing. Neurological examinations showed lethargy, blepharoptosis, grade 4 muscle strength of both upper limbs, grade 3 muscle strength of both lower limbs, and disappearance of tendon reflex. Laboratory tests revealed albuminocytological dissociation in cerebrospinal fluid, disappearance of H reflex, and positive serum anti-GD1b IgG. The boy was finally diagnosed with Guillain-Barré syndrome (GBS) overlapping with Miller-Fisher syndrome and Bickerstaff brainstem encephalitis. He recovered and was discharged after treatment including immunoglobulin, plasma exchange, and respiratory support. The GBS overlap syndromes in children have strong clinical heterogeneity due to the injury of both peripheral nerve and brainstem, among which anti-GD1b antibody-related GBS overlap syndromes have special clinical manifestations and complex neuroelectrophysiological changes and are thus difficult to diagnose. Nerve conduction velocity tests, especially H reflex test, should be performed for children with weakness in both lower limbs and blepharoptosis.

A 70-year-old male patient, who had a right upper eyelid tumor excision 4 years ago, complained of eyelid swelling and ptosis for 3 months. Orbital CT and MRI showed an orbital cystic lesion with hemorrhage in the right eye. The tumor was resected under general anesthesia. The pathological diagnosis was epithelioid hemangioendothelioma. (Chin J Ophthalmol, 2021, 57:696-698) .

Objective: To observe pathological features of levator aponeurosis in patients with involutional ptosis. Methods: A prospective study. Twenty-nine consecutive patients with involutional blepharoptosis who underwent levator aponeurosis advancement surgery for blepharoptosis correction were enrolled at Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University from 2007 to 2013. Twenty-nine specimens of the levator aponeurosis were obtained during surgery. Hematoxylin-eosin staining, Van Gieson staining, Masson staining, immunohistochemistry and transmission electron microscope observations were performed to observe the features of levator aponeurosis. Twelve normal specimens of fresh levator aponeurosis were obtained from Beijign Tongren Eyebank as control group. Mann-Whitney's U -test and multiple linear regression were used for statistical analysis. Results: Among the enrolled cases, there were 19 males and 10 females;14 cases were diagnosed with moderate ptosis and 15 cases with severe ptosis;9 cases involved with both eyes, 9 cases with right eyes, and 11 cases with left eyes. The mean age was 59 years. Among the 12 normal cases, there were 5 males and 7 females. The mean age was 56 years. Histopathological observation showed fascicle disruption(+++, ++, + 24, 2, 3 vs . 0, Z= -5.666, P< 0.001), scarcity of cross-striations(+++, ++, + 23, 2, 4 vs . 0, Z= -5.582, P< 0.001), collagen fibers hyperplasia(+++, ++, + 15, 10, 4 vs . 0, Z= -5.223, P< 0.001), fatty infiltration(+++, ++, + 24, 5, 0 vs . 0, Z= -5.671, P< 0.001), and a decrease of myoglobin expression(+++,++,+,- 9, 1, 1, 15 vs . 8, 1, 0, 0, Z= -3.004, P= 0.005) in levator aponeurosis. Transmission electron microscope recorded presence of collagen fiber hyperplasia and cellular degeneration including mitochondria swelling and hyperplasia, vacuoles, lipid droplets, nucleus pycnosis, chromosome condensation, disintegrated organelles, myeloid body and autophagy. Multivariate linear regression showed a correlation between fat infiltration and age(β=0.425, P= 0.043) while suspicious related clinical features as independent variables and observed histopathological features as dependent variables. Conclusion: The levator aponeurosis appears to be involved with muscle fiber degeneration, collagen fiber hyperplasia and cellular degeneration in patients with involutional blepharoptosis. (Chin J Ophthalmol, 2018, 54: 671-677) .

Intense pulsed light (IPL) is a broad spectrum incoherent light which is produced by high-output xenon lamp. Since the invention of the first-generation IPL in 1994, IPL technology has been developing rapidly and extensively utilized in multiple fields relevant to dermatology across the world. In 2004, the fourth-generation IPL system was introduced with the optimal pulse technology (OPT) and has soon been used for cosmetic purposes all over the world. In 2002, Dr. Toyos found that the meibomian gland dysfunction (MGD) and dye eye disease (DED)symptoms of the rosacea patients who received IPL treatment have been improving significantly, therefore he started to explore the application of IPL system to treatment of dry eye disease. Several recent clinical studies have demonstrated the therapeutic potential of IPL for improving the symptoms and signs of MGD and DED. However, the published data of IPL treatment for MGD and DED is limited, the mechanism of IPL treatment for MGD and DED remained unclear and more relevant researches needed to be done in the future. This article discusses the clinical application history and general mechanism of IPL, and introduces the treatment of IPL for MGD and DED. (Chin J Ophthalmol, 2018, 54: 140-143) .

Objective: To investigate the effectiveness of retro-orbicularis oculi fat resection in Park double eyelid surgery to correct the swollen upper eyelid., Methods: Between September 2015 and July 2016, partial resection of the retro-orbicularis oculi fat was performed on 32 cases with bilateral swollen upper eyelids in Park double eyelid surgery. There were 10 males and 22 females with an average age of 25 years (range, 19-32 years). The patients had normal function of the levator muscle, and had no history of double eyelid surgery., Results: All the incisions healed by first intention. There was no obvious congestion, swelling, levator muscle dysfunction. All patients were followed up 2-14 months, with an average of 10 months. The double eyelid fold was naturally smooth, without depressed scar; blepharochalasis was obviously improved, and the function of upper eyelid levator muscle was normal. All patients were satisfied with the aesthetic effect., Conclusion: Park double eyelid surgery and partial resection of retro-orbicularis oculi fat can effectively improve the aesthetic effect in patients with swollen upper eyelid, and can achieve the perfect function and appearance.