• Childhood Kidney Diseases
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• v.24 no.2
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• pp.115-119
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• 2020

Distal renal tubular acidosis (dRTA) is a rare renal tubular disorder characterized by normal anion gap metabolic acidosis, hypokalemia, and high urine pH. It can be inherited or acquired. In untreated pediatric patients with dRTA, rickets and growth retardation are common. We report the case of a 12-year-old Lao girl who presented with typical clinical features of dRTA with severe bone deformities that developed after a bed-ridden state due to a bicycle accident at the age of 8 years. Initial laboratory tests revealed metabolic acidosis with a normal anion gap, hypokalemia, and alkali urine. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Whole exome sequencing revealed no pathogenic mutations. After treatment with oral alkali, potassium, and vitamin D, she could walk and run. Later, she underwent corrective orthopedic surgeries for bony deformities. Thus, in pediatric dRTA patients, despite severe symptoms remaining untreated, accurate diagnosis and proper management can improve quality of life.

• Journal of Korean Neurosurgical Society
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• v.61 no.6
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• pp.661-668
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• 2018

Among the spinal disorders, the treatment approach for spinal deformities has been discussed least among department of neurosurgery. But nowadays, more and more neurosurgeons are interested in spinal deformities as well as complex spinal disorders and are doing not a few surgeries for these kinds of disease. Nevertheless, it is mandatory to understand the course of spinal deformity, principles of treatment, and surgical outcomes and complications. Understanding of the biology, biomechanics and metallurgy of the spine and instrumentation are also required for successful spinal deformity surgery. We need senior mentors and good surgical and neurophysiologic monitoring team. Knowledge of spinal deformity may be augmented with spine fellowships and surgical experience. Step by step training such as basic knowledge, orthopedic as well as neurosurgical disciplines and surgical skills would be mandatory. Neurosurgeons can have several advantages for spinal deformity surgeries. By high-level technical ability of the spinal cord handling to preserve neurological function and familiarity with microscopic surgery, better synergistic effect could be expected. A fundamental understanding of pediatric spinal deformity and growing spine should be needed for spinal deformity surgery.

• Journal of Yeungnam Medical Science
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• v.36 no.2
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• pp.92-98
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• 2019

Forefoot disorders are often seen in clinical practice. Forefoot deformity and pain can deteriorate gait function and decrease quality of life. This review presents common forefoot disorders and conservative treatment using an insole or orthosis. Metatarsalgia is a painful foot condition affecting the metatarsal (MT) region of the foot. A MT pad, MT bar, or forefoot cushion can be used to alleviate MT pain. Hallux valgus is a deformity characterized by medial deviation of the first MT and lateral deviation of the hallux. A toe spreader, valgus splint, and bunion shield are commonly applied to patients with hallux valgus. Hallux limitus and hallux rigidus refer to painful limitations of dorsiflexion of the first metatarsophalangeal joint. A kinetic wedge foot orthosis or rocker sole can help relieve symptoms from hallux limitus or rigidus. Hammer, claw, and mallet toes are sagittal plane deformities of the lesser toes. Toe sleeve or padding can be applied over high-pressure areas in the proximal or distal interphalangeal joints or under the MT heads. An MT off-loading insole can also be used to alleviate symptoms following lesser toe deformities. Morton's neuroma is a benign neuroma of an intermetatarsal plantar nerve that leads to a painful condition affecting the MT area. The MT bar, the plantar pad, or a more cushioned insole would be useful. In addition, patients with any of the above various forefoot disorders should avoid tight-fitting or high-heeled shoes. Applying an insole or orthosis and wearing proper shoes can be beneficial for managing forefoot disorders.

• Korean Journal of Environmental Biology
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• v.36 no.4
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• pp.456-462
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• 2018

The purpose of this study was to assess cross-generational effects of bisphenol A exposure in benthic copepods, Tigriopus west. Nauplii (<24 hours old) were exposed to graded concentrations of bisphenol A, and toxicity end-points such as survival, development, sex ratio, and fecundity were measured. $F_1$ generations were grown under innoxious conditions, and similarly assessed. Significant differences were observed in development of nauplii and copepodites, between exposed and non-exposed copepods; however, there were no differences in survival of nauplii or copepodites, sex ratio, or brooding rate in parental generation. In contrast, in the $F_1$ generation, there were significant differences between the control group and exposed group in survival and development of nauplii. Length, width, and biomass of parental and $F_1$ generations were reduced in the exposed group compared to the control group. In addition, some deformities, such as swelling of the prosome, abnormally shaped egg sac, and dwarfism were observed after exposure to bisphenol A. So, our study demonstrates that a cross-generation toxicity test and monitoring of morphological deformities in harpacticoid copepods, can be useful for development of potential bioindicators for environmental monitoring, and assessment of chemical impact.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.54 no.6
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• pp.948-953
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• 2021

To find the optimal eggs to larvae transforming temperature of walleye pollock Theragra chalcogramma, we investigated their hatching pattern, mortality, and larval deformities. Results showed that the hatching quality decreased as the water temperature increased and dropped sharply above 13℃. The highest hatching rate was achieved at 7℃, whereas the lowest was at 15℃. Dead eggs were not observed at 7℃; however, dead egg ratios were significantly high at 4.5℃ and above 13℃ (P<0.05). Mortality of larvae after hatching was not observed at 4.5℃, but was significantly high above 13℃. The DNA content of the larvae did not show any significant difference at all water temperatures; however, RNA content was the highest at 7℃ and was significantly low above 11℃. In addition, RNA/DNA ratio was the highest at 7℃. Larval deformities after hatching were low at 7-11℃ and higher at higher or lower water temperature. Therefore, the hatching index and larval health index of Walleye pollock eggs in this study show that 7℃ to 11℃ seems to be the optimal transforming water temperature range.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.27-31
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• 2022

X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

• Archives of Plastic Surgery
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• v.50 no.1
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• pp.101-105
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• 2023

Benign cartilaginous tumors, known as chondrogenic tumors, show cartilage components in the microscopic diagnosis. We present two clinical cases with cartilaginous tumors of the toes showing distinctive clinical manifestations. Two juvenile patients visited our outpatient clinic due to tumors with toenail deformities. A 10-year-old girl presented with a palpable mass with a nail deformity on the left third toe. The initial pathology report was soft tissue chondroma until complete resection. Another 15-year-old male patient visited the dermatology department with a toenail deformity and underwent a punch biopsy. The pathology report was fibrosis with myxoid degeneration. Excisional biopsies were performed for both patients. In the operative field, we observed exophytic tumors connected to the distal phalangeal bones. The final pathology reports were subungual osteochondroma on both patients. The specimen exhibited mature bone trabeculae with a focal cartilaginous cap. Benign cartilaginous tumors have a slow, progressive course and do not show significant symptoms. However, tumors in subungual areas are accompanied by toenail deformities and they can cause pain. Their clinical characteristics lead to a delayed diagnosis. Surgeons can be confused between soft tissue and chondrogenic tumors. When they conduct physical examinations, these categories should be considered in the differential diagnosis.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.49 no.3
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• pp.107-113
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• 2023

Bimaxillary transverse width discrepancies are commonly encountered among patients with dentofacial deformities. Skeletal discrepancies should be diagnosed and managed appropriately with possible surgical corrections. Transverse width deficiencies can present in varieties of combinations involving the maxilla and mandible. We observed that in a significant proportion of cases, the maxilla is normal, and the mandible showed deficiency in the transverse dimension after pre-surgical orthodontics. We designed novel osteotomy techniques to enhance mandibular transverse width correction, as well as simultaneous genioplasty. Chin repositioning along any plane is applicable concomitant with mandibular midline arch widening. When there is a requirement for larger widening, gonial angle reduction may be necessary. This technical note focuses on key points in management of patients with transversely deficient mandible and the factors affecting the outcome and stability. Further research on the maximum amount of stable widening will be conducted. We believe that developing evidence-based additional modifications to existing conventional surgical procedures can aid precise correction of complex dentofacial deformities.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.49 no.5
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• pp.270-277
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• 2023

Objectives: Concha cartilage is recommended for correction of cleft nasal deformities. Morbidities at the donor site have been reported in esthetic rhinoplasty cases. Reports on cleft patients are limited, so we investigated the complications of concha cartilage harvesting using the retroauricular approach in cleft rhinoplasty and their management. Materials and Methods: This was a retrospective review of the charts of 63 patients with cleft deformities who underwent septorhinoplasty with concha cartilage. All cases were harvested using a retroauricular approach. Data on patient demographics, surgery type, amount of cartilage harvested, and complications were gathered. Results: Sixty-three patients were enrolled (21 males and 42 females). The mean age of patients was 20.2±5.9 years. Complications were observed in 6 cases (9.5%) and included delayed wound healing (4.8%), prolonged postoperative pain (1.6%), postoperative paresthesia (1.6%), and prominauris (1.6%). Conclusion: The rate of complications associated with concha cartilage harvesting using a retroauricular approach is low. The use of meticulous surgical techniques, especially hemostasis control and adequate wound dressing, is key to minimizing postoperative complications.

• Journal of Korean Neurosurgical Society
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• v.61 no.2
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• pp.251-257
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• 2018

Objective : The aim of this study was to investigate clinical and radiological outcomes of patients who underwent posterior vertebral column resection (PVCR) by a single neurosurgeon in a single institution. Methods : Thirty-four consecutive patients with severe spinal deformities who underwent PVCR between 2010 and 2016 were enrolled. The radiographic measurements included a kyphotic angle of PVCR levels (VCR angle), sagittal vertical axis (SVA), thoracic kyphosis, lumbar lordosis (LL), and spinopelvic parameters. The data of surgical time, estimated blood loss, duration of hospital stay, complications, intraoperative neurophysiologic monitoring, and the Scoliosis Research Society (SRS)-22 questionnaire were collected using a retrospective review of medical records. Results : The VCR angle, LL, and SVA values were significantly corrected after surgery. The VCR and LL angle were changed from the average of $38.4{\pm}32.1^{\circ}$ and $-22.1{\pm}39.1^{\circ}$ to $-1.7{\pm}29.4^{\circ}$ (p<0.001) and $-46.3{\pm}23.8^{\circ}$ (p=0.001), respectively. The SVA was significantly reduced from $103.6{\pm}88.5mm$ to $22.0{\pm}46.3mm$ (p=0.001). The clinical results using SRS-22 survey improved from $2.6{\pm}0.9$ to $3.4{\pm}0.8$ (p=0.033). There were no death and permanent neurological deficits after PVCR. However, complications occurred in 19 (55.9%) patients. Those patients experienced a total of 31 complications during- and after surgery. Sixteen reoperations were performed in twelve (35.3%) patients. The incidence of transient neurological deterioration was 5.9% (two out of 34 patients). Conclusion : Severe spinal deformities can be effectively corrected by PVCR. However, the PVCR technique should be utilized limitedly because surgery-related serious complications are relatively common.