Rett syndrome is a progressive encephalopathy in females that appears during the first 18 months of the life. A few neurophysiologic investigations of peripheral nerve and electrodiagnostic studies in Rett syndrome has proposed mild distal axonopathy. However, the electrodiagnostic study shows demyelination rather than axonopathy in presenting patient with Rett syndrome. An 11-year-old female had normal birth history, no perinatal problems and normal development until age of 18 months. Developmental regression was recognized by her parent and slowly progressed. At physical examination at her age of 7 years, stereotypic hand movements was present and she could walk with frequent fall. Brain Computed Tomography was not specific and electrodiagnostic study revealed slow conduction velocity in all nerves tested. After follow-up for 4 years, hand wringling was remained and she became to be unable to walk alone. Electrodiagnostic study revealed as follows; 1) Compound muscle action potentials and sensory nerve action potentials in all the nerves tested revealed prolonged distal latency with normal amplitude. 2) F waves were evoked with prolonged latency in the all the nerves tested. 3) H-reflex were absent, bilaterally. 4) Facial motor conduction study and blink reflex showed normal findings. 5) Auditory evoked potential and visual evoked potential studies showed normal findings. These electrodiagnostic study indicates demyelinating neuropathy.
Action Potentials ; Blinking ; Brain ; Child ; Demyelinating Diseases ; Electromyography ; Evoked Potentials, Auditory ; Evoked Potentials, Visual ; Female ; Follow-Up Studies ; H-Reflex ; Hand ; Humans ; Parents ; Peripheral Nerves ; Physical Examination ; Reproductive History ; Rett Syndrome

Motor point block with phenol solution has the advantage of technical ease, bedside performance, and repetition as necessary in reducing spasticity. To our knowledge, however, complicating stress fracture that occur during the course of treatment after motor point block has not been described. We report the occurance of stress fracture of the head of right talus after motor point block with phenol solution. A 17-year-old boy had a gait disturbance due to excessive plantar flexion and inversion of right ankle by spasticity. Percutaneous motor point block to right tibialis posterior and right gastrocnemius was done with 7% aqueous phenol solution. Just after the block, he began to bear his weight on right heel and physical therapy including gait training was started. He complained of right ankle pain a week after resumption of weight-bearing while walking. Bone scan and magnetic resonance imaging of right ankle revealed stress fracture of talus of right foot. This case illustrated that physiatrists involved in the management of such patients should be aware that secondary stress fractures can occur.
Adolescent ; Ankle ; Foot ; Fractures, Stress* ; Gait ; Head ; Heel ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle Spasticity ; Phenol* ; Talus* ; Walking ; Weight-Bearing

Background: The traditional nasolabial V-Y advancement flap is widely used for midface reconstruction, particularly for the lower third of the nose and upper lip, as its color and texture are similar to these areas. However, it provides insufficient tissue to cover large defects and cannot restore the nasal convexity, nasal ala, and adjacent tissues. The purpose of this study is to investigate the modified nasolabial V-Y advancement flap with extension limbs the along alar crease for the reconstruction of complex midface defects. Methods: A retrospective analysis of 18 patients, who underwent reconstruction with the modified nasolabial V-Y advancement flap, was performed between September 2014 and December 2022. An extension limb was added along the alar crease, adjacent to the defect area, and was hinged down as a transposition flap at the end of the advancement flap. Results: The extension limb along the alar crease successfully covered large and complicated defects, including those of the ala, the alar rim, the alar base, the nostrils, and the upper lip, with minor complications. Conclusion The alar crease is a good donor site for the reconstruction of large and complex nasal and upper lip defects.

Congenital melanocytic nevus (CMN) is a benign condition that either is present at birth or develops in the first weeks of life. Surgical removal is typically performed to improve cosmetic appearance and reduce the risk of malignant transformation. In this report, we present the case of a 26-year-old woman with a medium-sized CMN on her left breast. The nevus measured 14×8 cm, and the patient desired a single-stage excision. However, this approach would result in a large skin defect that would be challenging to reconstruct using a local flap or skin graft. Moreover, it could potentially compromise the maintenance of natural sagging and the contour of the breast. Consequently, we opted to place a thin thoracodorsal artery perforator free flap following the removal of the CMN. The patient was satisfied with the overall surgical results. By utilizing this free flap for reconstruction, we successfully preserved the natural shape and contour of the breast without complications such as postoperative hypertrophic scarring or contracture at the recipient site.

Soybean polyunsaturated phosphatidylcholine (PC) is thought to exert anti-inflammatory activities and has potent effects in attenuating acute renal failure and liver dysfunction. The aim of this study was to investigate the effects of PC in protecting multiple organ injury (MOI) from lipopolysaccharide (LPS). Six groups of rats (N=8) were used in this study. Three groups acted as controls and received only saline, hydrocortisone (HC, 6 mg/kg, i.v.) or PC (600 mg/kg, i.p.) without LPS (15 mg/kg, i.p.) injections. Other 3 groups, as the test groups, were administered saline, HC or PC in the presence of LPS. Six hours after the LPS injection, blood and organs (lung, liver and kidney) were collected from each group to measure inflammatory cytokines and perform histopathology and myeloperoxidase (MPO) assessment. Serum cytokines (TNF-alpha, IL-6 and IL-10) and MPO activities were significantly increased, and significant histopathological changes in the organs were observed by LPS challenge. These findings were significantly attenuated by PC or HC. The treatment with PC or HC resulted in a significant attenuation on the increase in serum levels of TNF-alpha and IL-6, pro-inflammatory cytokines, while neither PC nor HC significantly attenuated serum levels of IL-10, anti-inflammatory cytokine. In the organs, the enhanced infiltration of neutrophils and expression of ED2 positive macrophage were attenuated by PC or HC. Inductions of MPO activity were also significantly attenuated by PC or HC. From the findings, we suggest that PC may be a functional material for its use as an anti-inflammatory agent.
Acute Kidney Injury ; Animals ; Cytokines ; Hydrocortisone ; Inflammation ; Interleukin-10 ; Interleukin-6 ; Kidney ; Liver ; Liver Diseases ; Lung ; Macrophages ; Neutrophils ; Peroxidase ; Phosphatidylcholines ; Rats ; Soybeans ; Tumor Necrosis Factor-alpha

A 25-year-old woman was referred for discomfort when breathing through her left nose. The patient had undergone augmentation rhinoplasty 5 years ago, after which hypertrophic scarring occurred in the left nostril. Several corticosteroid injections were administered as the first line of treatment, but with no symptom improvement. Therefore, we proceeded with surgical scar removal, with the use of a nasal conformer. However, scarring in the left nostril recurred. Accordingly, we proceeded with further surgical treatment using the scar folding technique. After scar folding, neither scarring nor nostril stenosis recurred during 1 year of postoperative follow-up. To summarize, herein, we report a case of hypertrophic scarring in the nostril that was successfully treated with the scar folding technique.

BACKGROUND: It has been recognized that a defect in klotho gene expression accelerates the degeneration of multiple age-sensitive traits. Accumulating evidence indicates that aging is associated with declines in cognitive function and the activity of growth hormone (GH)/insulin-like growth factor-1 (IGF-1). METHODS: In this study, we examined whether a GH-releaser diet could be effective in protecting against cognitive impairment in klotho mutant mice. RESULTS: The GH-releaser diet significantly induced the expression of IGF-1 and IGF-1 receptors in the hippocampus of klotho mutant mice. Klotho mutant mice showed significant memory impairments as compared with wild-type mice. In addition, the klotho mutation significantly decreased the expression of cell survival/antiapoptotic factors, including phospho-Akt (p-Akt)/phospho-glycogen synthase kinase3beta (p-GSK3beta), phospho-extracellular signal-related kinase (p-ERK), and Bcl-2, but significantly increased those of cell death/proapoptotic factors, such as phospho-c-jun N-terminal kinase (p-JNK), Bax, and cleaved caspase-3 in the hippocampus. Treatment with GH-releaser diet significantly attenuated both decreases in the expression of cell survival/antiapoptotic factors and increases in the expression of cell death/proapoptotic factors in the hippocampus of klotho mutant mice. In addition, klotho mutation-induced oxidative stress was significantly attenuated by the GH-releaser diet. Consequently, a GH-releaser diet significantly improved memory function in the klotho mutant mice. GH-releaser diet-mediated actions were significantly reversed by JB-1, an IGF-1 receptor antagonist. CONCLUSION: The results suggest that a GH-releaser diet attenuates oxidative stress, proapoptotic changes and consequent dysfunction in klotho mutant mice by promoting IGF-1 expression and IGF-1 receptor activation.
Aging* ; Animals ; Caspase 3 ; Diet* ; Gene Expression ; Growth Hormone ; Hippocampus ; Insulin-Like Growth Factor I ; Memory ; Mice* ; Oxidative Stress ; Phosphotransferases ; Receptor, IGF Type 1