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INTRODUCTION/AIMS: Following the approval of risdiplam, there are more possibilities for disease-modifying therapy (DMT) in children with spinal muscular atrophy (SMA). Non-treatment-naïve subjects with SMA involved in the JEWELFISH study, designed to evaluate the safety and tolerability of risdiplam, were required to undergo a washout period before receiving risdiplam. This study aims to investigate the safety of administering risdiplam in patients within 90 days of receiving treatment with nusinersen. METHODS: Data were collected on SMA patients who had undergone treatment with nusinersen, and who then received risdiplam within 90 days of their last dose of nusinersen, including demographic characteristics, information on treatment with nusinersen and risdiplam, adverse events, and laboratory assessments in a follow-up period of 90 days, presented as median (range). RESULTS: A total of 15 children with SMA were reported, including 8 males and 7 females. The median number of doses of previous nusinersen treatment received was 8 (6-17) doses, and the median age at first risdiplam treatment was 4.3 (1.9-11.2) years. Specifically, 8 children received risdiplam 30 days or less after their most recent nusinersen treatment, 2 at 31-60 days after nusinersen, and 5 at 61-89 days post-nusinersen. Adverse events of pyrexia, pneumonia, vomiting and rash were reported in 4 patients. DISCUSSION: Our study showed good safety data on patients who received risdiplam following nusinersen within the washout period of 90 days. This supplements the JEWELFISH study in the era of DMT, providing additional guidance for clinicians, but additional data from other centers is needed.
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BACKGROUND: Spinal muscular atrophy (SMA) is a rare autosomal recessive hereditary neuromuscular disease caused by survival motor neuron 1 (SMN1) gene deletion or mutation. Homozygous deletions of exon 7 in SMN1 result in 95% of SMA cases, while the remaining 5% are caused by other pathogenic variants of SMN1. METHODS: We analyzed two SMA-suspected cases that were collected, with no SMN1 gene deletion and point mutation in whole-exome sequencing. Exon 1 deletion of the SMN gene was detected using Multiplex ligation-dependent probe amplification (MLPA) P021. We used long-range polymerase chain reaction (PCR) to isolate the SMN1 template, optimized-MLPA P021 for copy number variation (CNV) analysis within SMN1 only, and validated the findings via third-generation sequencing. RESULTS: Two unrelated families shared a genotype with one copy of exon 7 and a novel variant, g.70919941_70927324del, in isolated exon 1 of the SMN1 gene. Case F1-II.1 demonstrated no exon 1 but retained other exons, whereas F2-II.1 had an exon 1 deletion in a single SMN1 gene. The read coverage in the third-generation sequencing results of both F1-II.1 and F2-II.1 revealed a deletion of approximately 7.3 kb in the 5' region of SMN1. The first nucleotide in the sequence data aligned to the 7385 bp of NG_008691.1. CONCLUSION: Remarkably, two proband families demonstrated identical SMN1 exon 1 breakpoint sites, hinting at a potential novel mutation hotspot in Chinese SMA, expanding the variation spectrum of the SMN1 gene and corroborating the specificity of isolated exon 1 deletion in SMA pathogenesis. The optimized-MLPA P021 determined a novel variant (g.70919941_70927324del) in isolated exon 1 of the SMN1 gene based on long-range PCR, enabling efficient and affordable detection of SMN gene variations in patients with SMA, providing new insight into SMA diagnosis to SMN1 deficiency and an optimized workflow for single exon CNV testing of the SMN gene.
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Reacción en Cadena de la Polimerasa Multiplex , Atrofia Muscular Espinal , Humanos , Variaciones en el Número de Copia de ADN/genética , Flujo de Trabajo , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Neuronas Motoras , Exones/genética , Proteína 1 para la Supervivencia de la Neurona Motora/genéticaRESUMEN
OBJECTIVES: Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous deletion and compound heterozygous mutations in survival motor neuron 1 (SMN1), with severity tied to the copy number of survival motor neuron 2 (SMN2). This study aimed to develop a rapid and comprehensive method for the diagnosis of SMA. METHODS: A total of 292 children with clinically suspected SMA and 394 family members were detected by the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis (ARMS-PCR-CE) method, which targeted 19 reported mutations, and the results were compared with those in multiplex ligation-dependent probe amplification (MLPA). Individuals with identified point mutations were further confirmed by SMN1 long-range PCR and Sanger sequencing. RESULTS: A total of 202 children with SMA, 272 carriers, and 212 normal individuals were identified in this study. No difference was found in the R-value distribution of exons 7 and 8 in SMN1 and SMN2 among these cohorts, with coefficients of variation consistently below 0.08. To detect exon 7 and 8 copy numbers in SMN1 and SMN2, the ARMS-PCR-CE results were concordant with those of MLPA. Approximately 4.95â¯% (10/202) of the study patients had compound heterozygous mutations. CONCLUSIONS: The ARMS-PCR-CE assay is a comprehensive, rapid, and accurate diagnostic method for SMA that simultaneously detects copy numbers of exons 7 and 8 in SMN1/SMN2, as well as 19 point mutations in SMN1 and 2 enhancers in SMN2. This approach can effectively reduce the time frame for diagnosis, facilitating early intervention and preventing birth defects.
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OBJECTIVES: To investigate the alveolar bone morphology of the mandibular second and third molars in skeletal Class III patients from a buccolingual direction. METHODS: Sixty skeletal Class III patients were recruited. The alveolar bone width, buccal cortical bone thickness and lingual cortical bone thickness were measured in five planes from mesial to distal and at five depths from gingival to root. The effects of the gender of the patients, the second molar lingual inclination and the third molar on alveolar bone width and cortical bone thickness were evaluated. To explore the effect of third molar extraction on alveolar bone morphology, the measurements before and after third molar extraction were compared. RESULTS: The impacted third molar had significantly greater alveolar bone width and thicker buccal cortical bone at the cervical third of the molar, while the erupted third molar had greater alveolar bone width at the apical third. Three weeks after third molar extraction, these advantages would weaken owing to the reconstruction of the alveolar bone. Patients with lingually inclined molar were observed to own thicker lingual cortical bone. Males tended to have greater alveolar bone width, but no significant differences were shown in this study. CONCLUSIONS: The growth of the third molar and the second molar lingual inclination affect the alveolar bone morphology of the mandibular second and third molars significantly, but gender has trivial effects on the morphology. The alveolar bone morphology of the mandibular second and third molars would change 3 weeks after third molar extraction.
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The continuously increasing number of blepharoplasty procedures has resulted in widespread concerns regarding postoperative complications. Embedded threads in blepharoplasty can cause foreign body reactions that can affect surgical outcomes. Foreign body reactions caused by sutures after blepharoplasty can be treated with local injection of 5-fluorouracil in the eyelid.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 .
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A rare case of trigeminal neuralgia following injections of Hyaluronic Acid and Botox was documented. In addressing the severe pain and swelling caused by the injection, a novel combination therapy was employed, notably including 5-fluorouracil. The significant improvement observed in this case not only provided clinical insights but also spurred further investigation into the underlying mechanisms linking trigeminal nerve damage to local dermal filler injections. The aim was to glean new medical perspectives and develop practical preventive strategies to mitigate such complications in future cases. This approach highlights the importance of understanding and addressing the potential neurological impacts of cosmetic procedures. 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 https://www.springer.com/00266 .
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BACKGROUND: Mesotherapy is a medical technique that administers cosmetic nutrients directly to the dermis through microdrop injections for aesthetic purposes. Its application has become increasingly widespread. However, there have also been a growing number of reported cases of multiple foreign body granulomas following mesotherapy. It is crucial to find an effective and safe treatment. METHODS: In this study, 31 patients with facial foreign body granuloma after mesotherapy were included. A mixture of 5-fluorouracil, lidocaine injection , and normal saline was prepared in a ratio of 1:1:4 and injected subcutaneously. Triamcinolone acetonide, 5-fluorouracil, lidocaine injection, and normal saline were prepared in a ratio of 2:5:3:10. Subcutaneous injections were administered to each papule using a 34G needle. The treatments were scheduled at intervals of 10-14 days. Color Doppler ultrasound was used to evaluate the condition before the initial treatment and after the final treatment. RESULTS: The preoperative ultrasonography revealed diffuse hypoechoic areas in the dermis of the facial skin. After an average of 2-4 treatment sessions, a significant improvement was observed in all patients' appearance, with reduced redness and swelling, softened nodules, absence of pain and itching symptoms, and no evident abnormal echo on ultrasound examination. During a follow-up period ranging from 1 to 8 months, no recurrence or adverse reactions were reported. CONCLUSION: This technique demonstrates clear efficacy. And this formulation effectively reduces the dosage of triamcinolone acetonide and minimizes the risk of adverse reactions such as skin atrophy. Therefore, it can be considered an effective treatment for multiple foreign body granulomas following mesotherapy. 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 .
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BACKGROUND: The injection of botulinum toxin into the masseter muscle is an important method for improving hypertrophy. However, some patients may experience adverse reactions, such as sagging of the lower jaw. Therefore, we proposed a method of injecting botulinum toxin into the masseter and platysma muscles that would reduce masseter size and enhance the jawline. OBJECTIVES: The aim of this study was to reduce the masseter size while enhancing the jawline. METHODS: Twenty patients received botulinum toxin injections into the masseter and platysma muscles. Pain levels were evaluated with the visual analog scale. All patients were photographed before and 6 months after treatment. Evaluations were performed based on standardized criteria. The lift index, reduction index, and symmetry index were performed to assess the degree of jawline elevation, masseter size reduction, and jawline symmetry before and after treatment. RESULTS: The mean visual analog scale score of the 20 patients was 2.80 (±1.24). The mean lift index score decreased from 4.93 (±0.34) to 4.53 (±0.37), P < .05. The mean reduction index score decreased from 3.13 (±0.27) to 2.74 (±0.27), P < .05. The mean symmetry index score changed from 0.0393 (±0.0296) to 0.0257 (±0.0246), P < .05. CONCLUSIONS: Botulinum toxin injections into the masseter and platysma muscles through nerve block reduced the masseter size, elevated the jawline, and improved symmetry.
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Toxinas Botulínicas Tipo A , Hipertrofia , Músculo Masetero , Humanos , Músculo Masetero/efectos de los fármacos , Femenino , Inyecciones Intramusculares/métodos , Adulto , Toxinas Botulínicas Tipo A/administración & dosificación , Toxinas Botulínicas Tipo A/efectos adversos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento , Hipertrofia/tratamiento farmacológico , Fármacos Neuromusculares/administración & dosificación , Fármacos Neuromusculares/efectos adversos , Técnicas Cosméticas/efectos adversos , Dimensión del Dolor , Adulto JovenRESUMEN
BACKGROUND: Injecting botulinum toxin (BTX) into the submandibular glands (SMGs) can treat drooling symptoms in neurological diseases and improve the aesthetics of SMG hypertrophy and ptotic SMGs. OBJECTIVES: This study aimed to define the size and position of the SMGs by high-frequency ultrasound, and to perform statistical analysis to improve the safety and accuracy of BTX injection therapy. METHODS: Neck ultrasonography with high-frequency ultrasound was performed on 214 volunteers. The length, height, and thickness of the SMGs, and the distance between the SMGs and the midline, the anterior border of the sternocleidomastoid, the mandible, and the surface were measured. RESULTS: The SMGs were almond-shaped with a mean [standard deviation] length of 33.7 [4.7]â mm, a thickness of 13.3 [2.9]â mm, and a height of 27.6 [6.0]â mm. The length and height were significantly different between underage and youth groups. The size of the SMGs did not show any notable differences with increasing BMI; however, their depth, and the distance from the mandible, midline, and anterior border of the sternocleidomastoid increased. No significant differences were observed between the affected and healthy sides in patients with microtia, hemifacial microsomia, or cleft lip and palate. CONCLUSIONS: Ultrasound provides more comprehensive information regarding the size and position of the SMGs, which can serve as a reference in BTX therapy and in the diagnosis of SMG diseases involving size alterations.
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Glándula Submandibular , Ultrasonografía , Humanos , Femenino , Masculino , Glándula Submandibular/diagnóstico por imagen , Adulto , Ultrasonografía/métodos , Adulto Joven , Adolescente , Persona de Mediana Edad , Niño , Sialorrea/etiología , Sialorrea/diagnóstico por imagenRESUMEN
BACKGROUND: Despite the increasing survival rates, liver transplant patients experience numerous postoperative complications and encounter significant challenges in long-term self-management. This study aims to examine the effectiveness of empowerment education in enhancing self-management skills and self-efficacy among liver transplant recipients. METHODS: A randomized, single-blind, single-center trial was conducted in China between August 2019 and September 2020, involving liver transplant recipients. The intervention group received 12 weeks of empowerment education, while the control group received 12 weeks of routine education. .The study assessed the patients' self-management and self-efficacy using the Liver Transplant Recipient Self-Management Questionnaire and the Self-efficacy for Managing Chronic Disease 6-Item Scale. Follow-up assessments were conducted at 1, 3, and 6 months after the intervention. RESULTS: Eighty-four patients were initially randomized to either the intervention group (n1 = 42) or the routine education group (n2 = 42). Twelve patients were excluded from the analysis due to loss of follow-up or discontinuation of the intervention, leaving 72 patients (n1 = 35, n2 = 37) for the final analysis. The scores for exercise and lifestyle management were significantly higher in the intervention group than in the control group at 1, 3, and 6 months after the intervention (t = 3.047, 5.875, 8.356, and t = 5.759, 4.681, 11.759, respectively; P < 0.05). At 3 and 6 months after the intervention, the scores for cognitive symptom management, communication with physicians, and self-efficacy were significantly higher in the intervention group than in the control group (t = 5.609, 6.416, and t = 5.576, 11.601, and t = 6.867, 15.071, respectively; P < 0.001). Within the intervention group, self-management scores increased significantly over time, while within the control group, the scores for communication with physicians, lifestyle, and self-efficacy showed a significant decline from 3 to 6 months after routine health education. CONCLUSIONS: The results of this study suggest that empowerment education is an effective means of improving the self-management and self-efficacy of liver transplant patients, with better outcomes compared to routine health education. These findings have important implications for nursing practice and provide valuable guidance for clinical education of liver transplant patients. TRIAL REGISTRATION: ChiCTR2200061561.
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BACKGROUND: A profound understanding of the various frontal tissues' morphology and their relationship with forehead lines can efficiently guide clinical treatment. OBJECTIVES: The authors explored the relationship between frontal anatomy and frontal lines. METHODS: We measured the thickness and shape of tissues in different regions of the forehead of 241 Asians. Then, we analyzed the relationship between the types of frontalis muscle and frontal lines, as well as the relationship between the frontal anatomical structures and the production of frontal lines. RESULTS: We classified the types of frontalis muscle into 3 categories comprising 10 subtypes. The skin (0.78 mm vs 0.90 mm, P < .05), superficial subcutaneous tissue (0.66 mm vs 0.75 mm, P < .05), and frontalis muscle thickness (0.29 mm vs 0.37 mm, P < .05) of people with obvious dynamic forehead lines were significantly thicker than those of people without significant dynamic forehead lines. However, no significant difference in the deep subcutaneous tissue thickness was found between people with and without static forehead lines (1.36 mm vs 1.34 mm, P < .05). CONCLUSIONS: This study shows the relationship between the frontal structure and frontal lines. Therefore, these results can provide references for treating frontal lines, to a certain extent.
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Frente , Piel , Humanos , Frente/diagnóstico por imagen , Frente/anatomía & histología , Ultrasonografía , Piel/diagnóstico por imagen , Tejido Subcutáneo/diagnóstico por imagenRESUMEN
Objective: The increase of hip fractures is related to the aging of the population, which has caused a huge medical burden in many countries. Hip replacement has been approved as a highly successful surgical intervention for the patients with hip fractures. Different anesthesia choices in the surgical intervention are associated with the prognosis of patients. This study focused on investigating the application of ultrasound-guided combined lumbar plexus-sciatic nerve block in elderly patients with hip fractures. Methods: In this retrospective study, 62 elderly patients received combined spinal-epidural anesthesia and 58 elderly patients underwent ultrasound-guided combined lumbar plexus-sciatic nerve block during the surgery. Hemodynamic monitoring including pulse oxygen saturation (SpO2), heart rate and blood pressure, the assessment of pain intensity using Visual Analogue Scale (VAS), cognitive function assessment through Montreal Cognitive Assessment (MoCA) and biomarkers consisting of serum levels of neuron specific-enolase (NSE), S100 beta protein (S100-ß), and amyloid beta protein (Aß), as well as immune function by interleukin-6 (IL-6), interleukin-1ß (IL-1ß), tumor necrosis factor-α (TNF-α), and high sensitivity C-reactive protein (hs-CRP) were detected in this study. Furthermore, length of hospital stay (LOS) and adverse reactions including hematoma, hypotension, nausea, and vomit were analyzed. Results: The findings indicated that comparing with the patients receiving combined spinal-epidural anesthesia, those undergoing ultrasound-guided combined lumbar plexus-sciatic nerve block showed significantly lower level of heart rate, higher level of SpO2, and lower level of diastolic pressure and systolic pressure at 5 minutes and 30 minutes after anesthesia and after surgery (P < 0.05), indicated obviously lower VAS score at 12, 24, and 48 hours after surgery (P < 0.05), and revealed higher MoCA score at 12 days after surgery (P < 0.05). A significantly higher level of NSE, S100ß, Aß, IL-6, IL-1ß, TNF-α, and hs-CRP was revealed in the two groups receiving different anesthesia methods at 10 days after surgery compared with that before surgery (P < 0.05). However, the patients receiving ultrasound-guided combined lumbar plexus-sciatic nerve block had obviously lower expression of NSE, S100ß, Aß, IL-6, IL-1ß, TNF-α, and hs-CRP compared with the group accepting combined spinal-epidural anesthesia (P < 0.05). The two groups indicated no significant difference in incidence of hypotension and vomit, etc. (P < 0.05), but showed remarkable difference referring to total incidence of adverse reactions and LOS (P < 0.05). Conclusion: The application of ultrasound-guided combined lumbar plexus-sciatic nerve block in hip replacement contributes to the stability of hemodynamics and alleviation of postoperative pain intensity. It can reduce cognitive and immune impairment of the elderly patients with hip fractures.
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Citocinas , Bloqueo Nervioso , Anciano , Péptidos beta-Amiloides , Artroplastia de Reemplazo de Cadera , Cognición , Fracturas de Cadera/cirugía , Humanos , Plexo Lumbosacro , Bloqueo Nervioso/métodos , Fosfopiruvato Hidratasa , Estudios Retrospectivos , Subunidad beta de la Proteína de Unión al Calcio S100 , Nervio Ciático , Ultrasonografía IntervencionalRESUMEN
BACKGROUND: Various dermal fillers are often used for nasolabial groove filling. High-frequency ultrasonography might be a valuable tool for assessing facial filler materials. METHODS: The facial ultrasound images of plastic surgery hospital of the Chinese Academy of Medical Sciences from November 2014 to November 2021 were analyzed and judged. RESULTS: A total of 94 patients who underwent high-frequency ultrasound with a nasolabial groove filler were included in the study. Hyaluronic acid was detected in 35 cases, polyacrylamide in 34 cases, lipofilling in 10 cases, silicon oil in seven cases, calcium hydroxyapatite in six cases, and silicone implant in two cases. The ultrasonic performance of hyaluronic acid was divided into four types: aggregation, diffusion, mixed pattern, and associated infection; of polyacrylamide was divided into five types: aggregation and inclusion, aggregation and non-inclusion, diffusion, mixed pattern, and associated infection; and of lipofilling was divided into four types: aggregation, diffusion, fat liquefaction necrosis, and cystic change. Echo intensity, echo characteristics, boundary clarity, fluidity, and blood flow signals can be used as the basis for identifying filler materials. CONCLUSION: High-frequency ultrasound has an identification significance for the filling materials in the area of nasolabial groove. 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 .
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Rellenos Dérmicos , Ácido Hialurónico , Labio , Nariz , HumanosRESUMEN
BACKGROUND: In recent years, the use of mental injectable soft tissue fillers is popular. However, some fillers are difficult to distinguish from pathological tissue, and some non-absorbable fillers need to be removed in time. Therefore, identification of different fillers is important. In this study, we summarized the ultrasonic manifestations of different mental injectable soft tissue fillers to provide references for clinical practice. METHODS: We screened the mental ultrasound images from November 2014 to November 2021 in the Plastic Surgery Hospital of Chinese Academy of Medical Sciences, identified different filling injection materials, and summarized and classified the ultrasonic characteristics of each filling material. RESULTS: A total of 244 cases were included, involving 62 cases of hyaluronic acid, 126 cases of polyacrylamide hydrogel, 19 cases of growth factor, 16 cases of calcium hydroxyapatite, 15 cases of silicone oil and 6 cases of fat. The ultrasonic manifestation of hyaluronic acid was anechoic area, which could be divided into six types according to the distribution characteristics. The ultrasonography of polyacrylamide hydrogel showed fine punctate echo, which could be divided into nine types. The ultrasonographic appearance of growth factor was similar to the echo of the surrounding tissue, and the boundary was not clear. Calcium hydroxyapatite was characterized by uneven hyperechoic area, which was spread in the tissue space, with unclear boundary with surrounding tissues. Sonographic patterns of silicone oil were hyperechoic and cloudy on high-frequency ultrasound. The deep tissue and periosteum layer were not clear. Transplanted fat showed isoechoic area or uneven low-echo area, with clear boundary and peripheral adipose tissue acoustic enhancement. CONCLUSIONS: High-frequency ultrasound is safe and reliable for identification and typing of chin filling injection materials, which can be applied in clinical practice. 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 .
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Durapatita , Ácido Hialurónico , Humanos , Aceites de Silicona , UltrasonografíaRESUMEN
INTRODUCTION: The anatomy of the arterial branches in the upper lip and their relationships to soft tissue are not well described in the literature. The purpose of this study was to explore a method for visualizing the microvessels and soft tissue three-dimensionally to gain better understanding of the upper lip blood supply. MATERIALS AND METHODS: Seventeen stillborn fetuses were injected with lead oxide-gelatin and stained with iodine. Thirty-four half upper lip specimens were obtained and scanned by micro-computed tomography. The images were then examined and Inveon analysis software was used for three-dimensional reconstructions. RESULTS: The main supplies to the upper lip were from the superior labial and inferior alar arteries. In some cases, the infraorbital and lateral nasal arteries also branched off to the upper lip. The anatomical variations were classified into six types on the basis of the observed vascular composition patterns. The skin was supplied by the subcutaneous vascular network, formed by the superficial ascending branches of the superior labial and inferior alar arteries. The mucosa was supplied by the submucosal vascular network, formed by the deep ascending branches of the superior labial artery and the labial branches of the infraorbital artery. The muscles were supplied by small vertical branches from the subcutaneous and submucosal vascular networks. CONCLUSION: This study provides new anatomical insight into the upper lip by describing the microvessels and the relationship between the arteries and the soft tissue involved. This is important information for clinical applications in upper lip plastic surgery.
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Labio/irrigación sanguínea , Labio/diagnóstico por imagen , Cadáver , Feto , Humanos , Imagenología Tridimensional , Labio/cirugía , Cirugía Plástica , Microtomografía por Rayos XRESUMEN
BACKGROUND: Nowadays, a sharp, well-defined supratarsal fold and appropriate fullness of the upper eyelid tissue are considered important features of beautiful and youthful eyes. Individuals with thin upper eyelid tissue are at high risk of developing multiple upper eyelid folds and/or sunken appearance after upper blepharoplasty. Innovatively, the authors propose the application of free orbital fat grafting to the postorbicularis oculi space during upper blepharoplasty in order to achieve better aesthetic results. METHODS: Fifty Chinese patients with congenital single eyelids combined with mildly sunken upper eyelid tissue were operated on between June 2017 and October 2018. During blepharoplasty, the lateral portion of the orbital septum was dissected, and appropriate lateral orbital fat was harvested. When the double-eyelid fold was formed and skin was interruptedly sutured, the harvested fat was divided into several pieces each side according to the sunken depth, and they were used to replace a layer on two-thirds of the central region of the supraseptal skin-muscle flap through the zipping gaps. RESULTS: Forty-five patients underwent the follow-up interview for 6 to 18 months with a mean period of 10 months. The satisfaction rate was 82%. No significant asymmetry, irregularities, and sunken upper eyelid and multiple upper eyelid folds occurred. CONCLUSION: The lateral orbital fat grafting to the central region of the supraseptal skin-muscle flap during upper blepharoplasty is an effective and simple method to correct or prevent multiple upper eyelid folds and/or sunken upper eyelid in Asians.
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Tejido Adiposo/trasplante , Blefaroplastia/métodos , Párpados/cirugía , Órbita/cirugía , Adulto , Pueblo Asiatico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Satisfacción Personal , Colgajos Quirúrgicos/cirugíaAsunto(s)
Atrofia Muscular Espinal , Proteínas de Neurofilamentos , Oligonucleótidos , Humanos , Oligonucleótidos/uso terapéutico , Proteínas de Neurofilamentos/sangre , Atrofia Muscular Espinal/tratamiento farmacológico , Atrofia Muscular Espinal/sangre , Preescolar , Masculino , Femenino , Niño , Lactante , Resultado del TratamientoRESUMEN
OBJECTIVE: To study the clinical phenotype and gene mutation analysis of a hereditary abnormal fibrinogenemia family and explore its molecular pathogenesis. METHODS: The STA-R automatic hemagglutination analyzer to detect the proband and its family members (3 generations of 5 people) of prothrombin time(PT), activated partial thromboplastin time (APTT), thrombin time (TT), fibrinogen activity (Fg: C), D-dimer (D-D), fibrinogen and fibrin degradation products (FDPs), plasminogen activity (PLG: A); The plasma levels of Fg: C and fibrinogen (Fg: Ag) were measured by Clauss method and immunoturbidimetry respectively. All exons and flanking sequences of FGA, FGB and FGG genes of fibrinogen were amplified by PCR, and the PCR products were purified and sequenced for gene analysis. The model was analyzed by Swiss software. RESULTS: The PT and APTT of the proband, her mother and sister were slightly prolonged, TT was significantly extend, Fg: C decreased significantly, Fg: Ag, PLG: A, D-D and FDPs are within the normal range; Her brother and daughter of the results are normal. Genetic analysis showed that g.7476 G>A heterozygous missense mutation in exon 8 of FGG gene resulted in mutations in arginine at position 275 of fibrinogen gamma D domain to histidine (Arg275His). Her mother and sister have the same Arg275His heterozygous mutation, brother and daughter for the normal wild type. CONCLUSION: The heterozygous missense mutation of FGG gene Arg275His in patients with hereditary dysfibrinogenemia is associated with a decrease in plasma fibrinogen activity.
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Afibrinogenemia/genética , Fibrinógeno/genética , Fibrinógenos Anormales/genética , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Mutación , LinajeRESUMEN
OBJECTIVE: To investigate the role of Pink1/Parkin-mediated mitochondrial autophagy in exertional heat stroke-induced acute lung injury in rats. METHODS: Sixty SD rats were divided into four groups: normal group (CON group), normal Parkin overexpression group (CONâ+âParkin group), exertional heat stroke group (EHS group), and exertional heat stroke Parkin overexpression group (EHSâ+âParkin group). Adeno-associated virus carrying the Parkin gene was intravenously injected into the rats to overexpress Parkin in the lung tissue. An exertional heat stroke rat model was established, and survival curves were plotted. Lung micro-CT was performed, and lung coefficient and pulmonary microvascular permeability were measured. RESULTS: Compared with the EHS group, the survival rate of rats in the EHSâ+âParkin overexpression group was significantly increased, lung coefficient and pulmonary microvascular permeability were reduced, and pathological changes such as exudation and consolidation were significantly reduced. The levels of inflammatory factors IL-6, IL-1ß, TNF- α, and ROS were significantly decreased; the degree of mitochondrial swelling in type II alveolar epithelial cells was reduced, and no vacuolization was observed. Lung tissue apoptosis was reduced, and the colocalization fluorescence of Pink1 and Parkin, as well as LC3 and Tom20, were increased. The expression of Parkin and LC3-II/LC3-I ratio in lung tissue were both increased, while the expression of P62, Pink1, MFN2, and PTEN-L was decreased. CONCLUSION: Impairment of Pink1/Parkin-mediated mitochondrial autophagy function is one of the mechanisms of exertional heat stroke-induced acute lung injury in rats. Activation of the Pink1/Parkin pathway can alleviate acute lung injury caused by exertional heat stroke.
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The synthesis of amines through N-alkylation is particularly attractive. Herein, a strategy for visible-light-induced N-alkylation of anilines with 4-hydroxybutan-2-one was developed in the presence of NH4Br, which avoid the use of metals, bases and ligands. In addition, gram-scale experiments proved that the system has the potential to be scaled.