Alexander disease (AxD) is a progressive neurodegenerative disorder caused by mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Three subtypes of AxD have been identified based on the age of onset: infantile (under age 2), juvenile (age 2 to 12) and adult (over age 12). The adult form is rare and presents with unique clinical features different from those of the infantile forms. Here, we present the first Korean case of adult-onset cerebellar ataxia with typical tadpole-like brainstem atrophy on the magnetic resonance imaging (MRI). Molecular genetic analysis revealed a heterozygous missense mutation (c.1246C>T, p.R416W) in the GFAP gene.

No abstract available.
Goats* ; Skeleton*

Studies demonstrate a decline in androgens with age and this results in the andropause. The objective of this paper is to review the literature on hormonal changes that occur in the aging males and determine if there are associations between decreased testosterone, dehydroepiandrosterone (DHEA) and decreased cognitive function. Trials of androgen replacement and its impact on cognitive function will also be analyzed. Method of analysis will be by a thorough search of articles on MEDLINE, the Intemet and major abstract databases. Results of the author's own research in 302 men of the association of memory loss as a symptom in the andropause will be presented. In addition, the authors open trial of testosterone replacement in hypogonadic men with Alzheimer's disease will also be presented. The results of the author's trial will be compared with other investigators. High endogenous testosterone level predicted better performance on visual spatial tests in several studies, but not in all studies. Likewise, testosterone replacement in hypogonadic patients improved cognitive functions in some but not all studies. Testosterone has also been shown to improve cognitive function in eugonadal men. Several studies have shown that declines in DHEA may contribute to Alzheimer's disease and the results of double blind studies with DHEA replacement and its effect on cognition will also be presented. In summary, there is still no consensus that androgen replacement is beneficial in cognitive decline but this option may prove promising in some patients.

Objective: To explore the application value of digital 3D printing technology for repairing mandibular defects with fibular flaps and to provide a basis for accurate repair mandibular defects. Methods: Nine cases of mandibular defects were selected, and spiral CT and CTA of the lower limbs were performed before the operation. The osteotomy guide plate and plastic guide plate were created using computer software, and the titanium plate was rebuilt according to the printed mandibular model. During the operation, an osteotomy guide plate was used for mandibular resection; a fibula bone plastic guide plate was used to reconstruct the fibular flap and reconstruct the mandibular defects. Results: The entire fibula flap survived, and the occlusal relationship was good. There was no complications in the donor site. The patients were satisfied with the appearance of the repair. All patients were followed up for 3 to 6 months, at which point the bone was basically healed. Conclusion Using a digital 3D printing technique to repair mandible defects with a fibular flap can shorten the operation time, reduce the risks of operation, and better restore the maxillofacial shape and the function of the jaw, which is consistent with the concept of appropriate medical treatment. Additionally, this process provides a better method for the treatment of mandibular defects.

Objective To investigate the effect of microRNA (miR)-138 regulation of Wnt signaling pathway on the biological behavior of human glioma cells in vitro. Methods Glioma cell lines U-87MG and U251 were selected and randomly divided into blank group, miR-NC group, miR-138 mimics group and miR-138 inhibitor group. Real-time PCR was used to detect the miR-138 expression in each group; MTT, flow cytometry, Transwell assay and scratch assay were used to detect proliferation, apoptosis, invasion and migration ability of each group respectively, and Western blotting was used to detect Wnt pathway-related protein expression in each group. Results The miR-138 expression level was higher in the miR-138 mimics group compared with the remaining 3 groups, and that in the miR-138 inhibitor group was lower than that in the blank group and the miR-NC group (P<0. 05) ; Compared with the blank group, the cell proliferation rate was lower in the miR-138 mimics group and higher in the miR-138 inhibitor group, and was time-dependent (P<0. 05) ; The apoptosis rate in the miR-138 mimics group was higher than that in the blank group, miR-NC group, and miR-138 inhibitor group, while the apoptosis rate in the miR-138 inhibitor group was lower than that in the rest other groups (P<0. 05) ; The number of cell-invading cells in the miR-138 mimics group was lower than that in the blank group, miR-NC group, and miR-138 inhibitor group, while all miR-138 inhibitor group were higher than the remaining three groups (P<0. 05) ; The cell migration rate of miR-138 mimics group was lower than that of blank group, miR-NC group and miR-138 inhibitor group, while all miR-138 inhibitor group were higher than the remaining three groups (P<0. 05) ; Wnt3a, Wntl, glycogen synthase kinase 3(3(GSK-3(3) and (3-catenin protein expression in the miR-138 mimics group was lower than that in the blank group, miR-NC group, and miR-138 inhibitor group; While miR-138 inhibitor groups were higher than the remaining three groups(P<0. 05). Conclusion MiR-138 overexpression effectively inhibite the proliferation, invasion and migration of glioma cells and promote their apoptosis, probably achieved by pathway inhibition of the Wnt signaling pathway.

Objectives: . Nonsurgical rhinoplasty using threads has gained popularity in recent years. While the benefits of this procedure have been emphasized, possible complications and their management are not well-known. This study aimed to present the surgical management and results of the complications of thread rhinoplasty. Methods: . We retrospectively reviewed the medical records of seven patients who underwent revision rhinoplasty due to the complications of thread rhinoplasty from January 2018 to May 2021. The presentation of complications, detailed surgical procedures, and outcomes of revision rhinoplasty were reviewed. Results: . Visible or extruded threads at the tip were the most common complication, followed by dorsum irregularity. All the threads were unabsorbed and intact in shape, even several years after insertion. Thread removal necessitated careful tissue dissection, resulting in the loss of tip support and dorsal irregularity. To restore the tip support and camouflage the dorsum shape, an autologous tissue graft was needed. Conclusion . Removal of threads at the tip and dorsum was accompanied by structural weakening and partial tissue loss, which required tip support restoration and dorsum camouflage.

Objective: To evaluate the accuracy of endoscopic titanium clip localization combined with CT three-dimensional reconstruction for the control of incision margin in early gastric cancer under laparoscopy. Methods: A prospective analysis was made for gastric cancer whose lesions were located in the middle of the stomach and T stage was 1 to 2 from October 2017 to January 2019 at Department of Gastrointestinal and Pancreatic Surgery, Zhejiang Provincial People′s Hospital. Totally 25 patients were eventually enrolled in the study. There were 17 males and 8 females aging of (63.6±7.2) years (range: 48 to 77 years). All cases were treated with titanium clip localization under endoscope combined with CT three-dimensional(3D) reconstruction to construct a virtual panorama of gastric cavity and lesions, and to design surgical margins. Laparoscopic surgical resection was performed according to the surgical margins designed before operation. The distance from the gastric angle to the origin of the minor curvature of the incisional margin, the distance from the gastric angle to the the center of lesion and the distance of the upper incision margin were measured under three-dimensional CT reconstruction and under actual specimen. Paired t test was used to compare the three distances measured by two methods. Results: The measured distances from the gastric angle to the center of the lesion and the proximal incisional margin under 3D reconstruction CT were according to the measured values of actual specimens ((2.67±1.38) cm vs. (2.83±1.56) cm, t=1.51, P=0.14; (5.23±0.60) cm vs. 5 cm, t=1.93, P=0.07); the measured distances from the gastric angle to the origin of the minor curvature of the incisional margin under CT 3D reconstruction were different with the measured values of solid specimens ((5.94±0.94) cm vs. (6.37±0.90) cm, t=3.52, P=0.00). Conclusion The method of titanium clip localization combined with CT 3D reconstruction can provide a feasible laparoscopic localization method and incision edge solution for T1 to T2 gastric central cancer.

Objective: To observe the treatment effect of oral propranolol combined with topical timolol maleate for infantile maxillofacial mixed hemangioma and provide evidence for clinical treatment. Methods: Ninety-seven cases of infantile maxillofacial mixed hemangioma were enrolled. The cases were randomly divided into A and B groups: 50 cases in group A were treated with oral propranolol combined with topical timolol maleate, and 47 cases in group B were treated with oral propranolol only. The changes in the color, volume, and texture of the tumors were recorded before and after treatment, and color ultrasonography of the lesion area was performed. The follow-up time was 1-12 months. The differences in the curative effect, effective time and adverse reaction between the two groups were compared. Results : The effective rate of group A was 92.0% (46/50) and that of group B was 74.5% (35/47), with a statistical significance (P < 0.05). The mean time of treatment in group A was 4.2 months and that in group B was 5.5 months. Compared with group B, the treatment time of group B was shorter (t=3.211, P < 0.05), and no serious adverse reactions occurred in both groups. Conclusion Oral propranolol combined with topical timolol maleate is effective in the treatment of mixed hemangioma of the maxillofacial region in infants.

Cerebral artery embolism is a rare but serious complication of facial plastic surgery. This paper reports a case of severe total cerebral arterial fat embolism caused by facial autologous fat injection. The patient past away after 40 hours of treatment. The cause of this total cerebral artery embolism patient was analyzed by tracing relevant medical history and cephalic CTA examination. By studying this case, we hope to reduce the occurrence of similar situations in the future.

Hemimasticatory spasm is a rare disorder that often accompanies facial hemiatrophy and is characterized by spasm in one or more of the jaw-closing muslces supplied by the fifth cranial nerve. We report a clinical and electrophysiological observation of a patient of hemimasticatory spasm, who presented involuntary spasm on masseter muscle and hemiatrophy of the face on the right side for 7 years.
Facial Hemiatrophy ; Humans ; Masseter Muscle ; Spasm* ; Trigeminal Nerve