Skull base surgeons are frequently required to operate in close proximity to the facial nerve, making facial nerve paresis or paralysis the possible result of resection of skull base tumors. Serious functional problems can result following eyelid paralysis. The inability to blink and lubricate the eye can lead to exposure keratitis, corneal abrasions, and even blindness. Thus, management of paralysis following facial nerve injury should include provision of adequate corneal coverage. In the cases where the surgeon is certain that the facial nerve has been left intact and return of function is expected, methods are needed to meliorate the temporary paresis or paralysis of the eyelids. If the lower lid is in proper position, adequate eyelid closure can be achieved with placement of the gold weight alone in the upper eyelid. These weights also could be removed once facial nerve function returns normal. Presented is a report of the satisfactory outcome that we have achieved from gold implantation into the upper lid in temporary paralysis of the eyelids in facial nerve paralysis.
Blindness ; Eyelids* ; Facial Nerve ; Facial Nerve Injuries ; Facial Paralysis* ; Keratitis ; Paralysis ; Paresis ; Skull Base ; Weights and Measures

Autophagy is a series of catabolic process mediating the bulk degradation of intracellular proteins and organelles through formation of a double-membrane vesicle, known as an autophagosome, and fusing with lysosome. Autophagy plays an important role of death-survival decisions in neuronal cells, which may influence to several neurodegenerative disorders including Parkinson's disease. Chebulagic acid, the major constituent of Terminalia chebula and Phyllanthus emblica, is a benzopyran tannin compound with various kinds of beneficial effects. This study was performed to investigate the autophagy enhancing effect of chebulagic acid on human neuroblastoma SH-SY5Y cell lines. We determined the effect of chebulagic acid on expression levels of autophagosome marker proteins such as, DOR/TP53INP2, Golgi-associated ATPase Enhancer of 16 kDa (GATE 16) and Light chain 3 II (LC3 II), as well as those of its upstream pathway proteins, AMP-activated protein kinase (AMPK), mammalian target of rapamycin (mTOR) and Beclin-1. All of those proteins were modulated by chebulagic acid treatment in a way of enhancing the autophagy. Additionally in our study, chebulagic acid also showed a protective effect against 1-methyl-4-phenylpyridinium (MPP+) - induced cytotoxicity which mimics the pathological symptom of Parkinson's disease. This effect seems partially mediated by enhanced autophagy which increased the degradation of aggregated or misfolded proteins from cells. This study suggests that chebulagic acid is an attractive candidate as an autophagy-enhancing agent and therefore, it may provide a promising strategy to prevent or cure the diseases caused by accumulation of abnormal proteins including Parkinson's disease.
1-Methyl-4-phenylpyridinium ; Adenosine Triphosphatases ; AMP-Activated Protein Kinases ; Autophagy* ; Cell Line ; Humans ; Lysosomes ; Negotiating ; Neuroblastoma ; Neurodegenerative Diseases ; Neurons ; Neuroprotective Agents* ; Organelles ; Parkinson Disease ; Phyllanthus emblica ; Sirolimus ; Terminalia

OBJECTIVES: Self-reported disease history is often used in epidemiological studies. In this study, we acquired the hospital records of subjects who self-reported stroke or myocardial infarction (MI) and evaluated the validity of the participants’ self-reported disease history. We also determined the level of agreement between specialists and non-specialists. METHODS: Among the participants in the Health Examinees study, 1488 subjects self-reported stroke or MI during 2012-2017, and medical records were acquired for the 429 subjects (28.8%) who agreed to share their medical information. Each record was independently assigned to 2 medical doctors for review. The records were classified as ‘definite,’‘possible,’ or ‘not’ stroke or MI. If the doctors did not agree, a third doctor made the final decision. The positive predictive value (PPV) of self-reporting was calculated with the doctors’ review as the gold standard. Kappa statistics were used to compare the results between general doctors and neurologists or cardiologists. RESULTS: Medical records from 208 patients with self-reported stroke and 221 patients with self-reported MI were reviewed. The PPV of self-reported disease history was 51.4% for stroke and 32.6% for MI. If cases classified as ‘possible’ were counted as positive diagnoses, the PPV was 59.1% for stroke and 33.5% for MI. Kappa statistics showed moderate levels of agreement between specialists and non-specialists for both stroke and MI. CONCLUSIONS The validity of self-reported disease was lower than expected, especially in those who reported having been diagnosed with MI. Proper consideration is needed when using these self-reported data in further studies.

Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion.
Charcot-Marie-Tooth Disease ; Gene Dosage ; Humans ; Paralysis ; Phenotype

Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities. Recently, mutations in the small heat shock protein 27 (HSP27) gene were found to cause dHMN type II or Charcot-Marie-Tooth disease type 2F (CMT2F). The authors studied 151 Korean axonal CMT or dHMN families, and found a large Korean dHMN type II family with the Ser135Phe mutation in HSP27. This mutation was inherited in an autosomal dominant manner, and was well associated with familial members with the dHMN phenotype. This mutation site is located in the ?-crystallin domain and is highly conserved between different species. The frequency of this HSP27 mutation in Koreans was 0.6%. Magnetic resonance imaging analysis revealed that fatty infiltrations tended to progressively extend distal to proximal muscles in lower extremities. In addition, fatty infiltrations in thigh muscles progressed to affect posterior and anterior compartments but to lesser extents in medial compartment, which differs from CMT1A patients presenting with severe involvements of posterior and medial compartments but less involvement of anterior compartment. The authors describe the clinical and neuroimaging findings of the first Korean dHMN patients with the HSP27 Ser135Phe mutation. To our knowledge, this is the first report of the neuroimaging findings of dHMN type II.
Adolescent ; Adult ; Age of Onset ; Animals ; Asian Continental Ancestry Group ; Charcot-Marie-Tooth Disease/*genetics/physiopathology/radionuclide imaging ; Child ; Child, Preschool ; Female ; *Genetic Predisposition to Disease ; Humans ; Intracellular Signaling Peptides and Proteins/*genetics ; Korea ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscular Atrophy/physiopathology/radionuclide imaging ; *Mutation, Missense ; Neural Conduction/genetics ; Pedigree ; Protein-Serine-Threonine Kinases/*genetics ; alpha-Crystallins/genetics