• Journal of Genetic Medicine
• /
• v.18 no.2
• /
• pp.127-131
• /
• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• Journal of Pharmacopuncture
• /
• v.25 no.3
• /
• pp.258-267
• /
• 2022

Objectives: Hypertrophic scars (HSs) are caused by abnormal wound healing. To date, no standard treatment has been made available for HSs. Scrophularia striata has been reported to accelerate wound healing and has the potential to prevent HS formation. In this study, we investigated the anti-scarring effects of S. striata extract (SSE) in a rabbit ear model of scarring. Methods: In this study, New Zealand white rabbit (weight: 2.3-2.5 kg) were used. In the prevention phase of the study, three test groups received 5%, 10%, and 15% ointments of SSE in the Eucerin base, the fourth group received Eucerin, and the fifth group received no treatment. The samples were obtained on day 35 after wounding. In the treatment phase of the study, the test groups received an intralesional injection of SSE (5%, 10%, and 15%), the fourth group received an intralesional injection of triamcinolone, the fifth group received a solvent (injection vehicle), and the sixth group received no treatment. To evaluate the anti-scarring effects of SSE, the scar elevation index (SEI), epidermis thickness index (ETI), collagen deposition, and MMP2 and MMP9 gene expression were evaluated. Results: A significant reduction in SEI, ETI, and collagen deposition was noted in animals treated with SSE compared with the control groups. In addition, topical SSE stimulated MMP2 and MMP9 gene expression. Conclusion: The findings of this study demonstrate the potential for SSE in the prevention and treatment of HS. SSE could be prepared as an appropriate formulation to treat wounds and prevent abnormal scarring.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
• /
• v.36 no.3
• /
• pp.140-149
• /
• 2023

Objectives : The purpose of this study is to present the effect of subcision, microneedle therapy system and herbal peeling therapy which is treatment of Korean medicine to atrophic acne scar patients. Methods : We administered subcision, microneedle therapy system and herbal peeling therapy to atrophic acne scar patients and tested the results by Qualitative Global Acne Scarring Grading System and Korean Acne Grading System as well. Results : After the treatment, all of the patients showed improvements in Qualitative Global Acne Scarring Grading System and Korean Acne Grading System as well. Qualitative Global Acne Scarring Grading System of patients changed from grade 2.71±0.71 to grade 1.14±0.86 along with the change of Korean Acne Grading System from grade 1.57±0.57 to grade 1.00±0.00. Conclusions : Subcision, microneedle therapy system and herbal peeling therapy may be effective in the treatment of moderate to severe acne scars, and could be applied in clinical practice.

• Archives of Plastic Surgery
• /
• v.49 no.6
• /
• pp.704-709
• /
• 2022

Background The scar alopecia after cranioplasty (SAC) may decrease the patient's quality of life. We have treated SAC using follicular unit extraction (FUE). The aim of this study was to discuss that efficacy of FUE and how much hair follicular unit (FU) should be transplanted intraoperatively for the treatment of SAC. Methods We treated 10 patients (4 men and 6 women) who had SAC using FUE. Results The average age, alopecia size, and intraoperative hair density on the graft area were 29.8 ± 12.1 years, 29.8 ± 44.5 cm², and 34.6 ± 11.8 FU/cm², respectively. One year postoperatively, the average hair survival rate on the graft area was 66.3 ± 6.1%. Hair appearance was rated as good in six, fair in three, and poor in one. Among patients whose 1-year postoperative hair density was ≥ 20 FU/cm², five of six patients achieved good results. However, among patients whose 1-year postoperative hair density was < 20 FU/cm², all four patients achieved fair or poor results. The postoperative hair density was significantly higher in patients whose 1-year postoperative hair density was ≥ 20 FU/cm² than in patients whose 1-year postoperative hair density was< 20 FU/cm². The rate of achieving fair or poor results was significantly higher if the postoperative hair density was < 20 FU/cm² than if it was ≥ 20 FU/cm² (p = 0.047). Conclusions FU excision is useful for the treatment of scar alopecia after craniotomy. Our results suggest that the 1-year postoperative hair density should exceed 20 FU/cm² to achieve good outcomes.

• Childhood Kidney Diseases
• /
• v.1 no.1
• /
• pp.46-52
• /
• 1997

Urinary tract infection (UTI) in children has been known to be a cause of renal damage, leading to scar formation, hypertension and renal failure. And vesico-ureteral reflex (VUR), frequently accompanying UTI in young children, has been incriminated as the main factor causing scar formation. This retrospective study has been undertaken to see the relationship among UTI, VUR and renal scar formation. Study population consisted of 291 children (boy 134, girl 42) with UTI, who have been admitted to the Pediatric Department of Kyungpook University Hospital during 6 1/2 year period from January 1990 to June 1996. VUR was diagnosed by VCUG and renal scar by ultrasonogram, DMSA scan (or DMSA SPECT) and IVP. The following result were obtained. Sexual difference showed male predominance (male to female, 134:42) below 1 year of age, and female predominance (male to female, 11:35) over 5 years of age were rioted. VUR has been found in 64 children (22%) and the degree of reflux, classfied by the method proposed by 'International Reflux Study in Children', were as follows ; Grade I : 4.0%, Grade II : 3.0%, Grade III : 2.7%, Grade IV : 5.8% and Grade V : 6.2%. There was no sexual difference E.coli was the most predominant infecting agent occurring in 167 children (57%), and end-stage renal failure was diagnosed at the time of first admission in 5 children with Grade V VUR. Renal scar has been noted in 49 out of 582 kidneys (8.4%), and the incidence of scar foramation according to the degree of VUR were as follow ; Grade 0 (No reflux) : 1.2%, Grade I : 6.7%, Grade II 27.3%, Grade III 29.4%, Grade IV : 57.1%, and Grade V : 100%. In summary, present study shows that renal scar formation in UTI has close correlation with the severity of VUR occurring more frequently in severe reflux, so that early diagnosis and proper treatment of UTI and VUR is of paramount importance in preventing renal damage in children with UTI.

• Journal of Plant Biotechnology
• /
• v.1 no.2
• /
• pp.109-115
• /
• 1999

A linkage map of Capsicum annuum L. was constructed by random amplified polymorphic DNA (RAPD) markers followed in a backcross population of an intraspecific cross between cultivars HDA210 and Yatsufusa. A total of 420 random primers were tested and 311 polymorphic bands were generated by 158 random primers. Among them, 86 Yatsufusa specific bands generated by 52 primers were examined for mapping. Most bands except three segregated in Mendelian fashion fitting the expected 1:1 ratio. The total length of the map was 533 cM distributed in 15 linkage groups. The map distance between adjacent markers ranged 0 to 32.8 cM, with an average distance of 9.1 cM (63 markers). Some markers were clustered and this may be due to the amplification of a repetitive sequence by the RAPDs. Primer pairs for a sequence characterized amplified region (SCAR) were developed and the segregation scores by the SCAR primers were in accordance with the RAPD data. Two QTL markers for number of axillary shoots and for early flowering were developed. One QTL for early flowering located in the linkage group 3 and explained 61 "io of the phenotypic variation. The other QTL for the number of axillary shoots located in the linkage group 4 explained 55 % of the phenotypic variation.tion.

• Archives of Plastic Surgery
• /
• v.46 no.6
• /
• pp.558-565
• /
• 2019

Background The scalp, an excellent donor site for thin skin grafts, presents a limited surface but is rich in stem cells. The purpose of this study was to test a double harvesting procedure from the scalp and to evaluate the capacity of the dermal layer. Methods Two layers corresponding to a split-thickness skin graft (SSG) and a split-thickness dermal graft (SDG) were harvested from the scalp using a Zimmer dermatome during the same procedure. Healing of the scalp donor site, reason for recipient site grafting, and the percentage of graft loss were evaluated. Results Fourteen patients, comprising six men and eight women with a mean age of 34.2 years, were treated according to our protocol. The most common reason for a recipient site graft was a postburn scar deformity (10/14 patients). The mean area of scalp SSGs was 151.8 cm². The mean area of scalp SDGs was 88.2 cm². The mean healing time of scalp donors was 9.9 days. The only donor complication was a tufted scar deformity. Conclusions Skin defects in the scalp of donors healed faster and led to less scarring than defects at other donor sites. Scalp SDGs needed 10 days for adequate epithelization. The scalp was the best donor site for SSGs and SDGs for burn reconstructive patients.

• Parasites, Hosts and Diseases
• /
• v.52 no.5
• /
• pp.537-540
• /
• 2014

We present a case of ocular toxocariasis treated successfully with oral albendazole in combination with steroids. A 26-year-old male visited the authors' clinic with the chief complaint of flying flies in his right eye. The fundus photograph showed a whitish epiretinal scar, and the fluorescein angiography revealed a hypofluorescein lesion of the scar and late leakage at the margin. An elevated retinal surface and posterior acoustic shadowing of the scar were observed in the optical coherence tomography, and Toxocara IgG was positive. The patient was diagnosed with toxocariasis, and the condition was treated with albendazole (400 mg twice a day) for a month and oral triamcinolone (16 mg for 2 weeks, once a day, and then 8 mg for 1 week, once a day) from day 13 of the albendazole treatment. The lesions decreased after the treatment. Based on this study, oral albendazole combined with steroids can be a simple and effective regimen for treating ocular toxocariasis.

• The Korean Journal of Pain
• /
• v.18 no.2
• /
• pp.229-231
• /
• 2005

The most common and cumbersome complication of herpes zoster is postherpetic neuralgia, which typically presents as neuropathic pain. However, the painful symptoms of the postherpetic period might be associated with other causes, such as skin lesions of the herpes zoster. We report a case of a hypertrophic scar that developed in the lesion of an acute herpes zoster patient and was accompanied by pain.

• Archives of Plastic Surgery
• /
• v.32 no.3
• /
• pp.299-303
• /
• 2005

The epicanthal fold is common natural finding in Asian eyes. It is very common that patients, who look for oriental blephaloplasty for double eye lid, request correction epicanthal fold. It is very often difficult to achieve satisfactory results if the correction of the epicanthal fold is not corrected concomitantly. Many authors described surgical procedures for correction of epicanthal folds. But most of them leave additional scars which tend to be hypertrophic and noriceable. We achieved satisfactory result in epicanthoplasty with invisible scar, using combination of procedures, such as upward incision, double eyelid operation, anchoring suture of the medial upper lid skin to the medial canthal tendon, trans-nasal root subcutaneous mattress suture of the epicanthal fold itself and combined rhinoplasty. For past six years (1998 to 2003) 17 patients have been operated with one of these mentioned procedures. The mean follow up was 4months (2weeks to 6months). All patients were satisfied and no major complication was noted. This method can be one of the effective procedures for correcting the Asian epicanthal fold for avoiding potential visible scar and ancillary procedure in double eye lid blephaloplasty.