Gyu Yong Jung

A multiplex single nucleotide polymorphism genotyping method using ligase-based mismatch discrimination and CE-SSCP.

Accuracy, simplicity, and cost‐effectiveness are the most important criteria for a genotyping method for SNPs compatible with clinical use. One method developed for SNP genotyping, ligase‐based discrimination, is considered the simplest for clinical diagnosis. However, multiplex assays using this method are limited by the detection method. Although CE has been introduced as an alternative to error prone microarray‐based detection, the design process and multiplex assay procedure are complicated because of the DNA size‐dependent separation principle. In this study, we developed a simple and accurate multiplex genotyping method using reaction condition‐optimized ligation and high‐resolution CE‐based SSCP. With this high‐resolution CE‐SSCP system, we are able to use similar‐sized probes, thereby eliminating the complex probe design step and simplifying the optimization process. We found that this method could accurately discriminate single‐base mismatches in SNPs of the tp53 gene, used as targets for multiplex detection.

Intravenous Nefopam Reduces Postherpetic Neuralgia during the Titration of Oral Medications

Background The recently known analgesic action mechanisms of nefopam (NFP) are similar to those of anticonvulsants and antidepressants in neuropathic pain treatment. It is difficult to prescribe high doses of oral neuropathic drugs without titration due to adverse effects. Unfortunately, there are few available intravenous analgesics for the immediate management of acute flare-ups of the chronic neuropathic pain. The aim of this study was to determine the additional analgesic effects for neuropathic pain of NFP and its adverse effects during the titration of oral medications for neuropathic pain among inpatients with postherpetic neuralgia (PHN). Methods Eighty inpatients with PHN were randomly divided into either the NFP or normal saline (NS) groups. Each patient received a 3-day intravenous continuous infusion of either NFP with a consecutive dose reduction of 60, 40, and 20 mg/d, or NS simultaneously while dose titrations of oral medications for neuropathic pain gradually increased every 3 days. The efficacy of additional NFP was evaluated by using the neuropathic pain symptom inventory (NPSI) score for 12 days. Adverse effects were also recorded. Results The median NPSI score was significantly lower in the NFP group from days 1 to 6 of hospitalization. The representative alleviating symptoms of pain after using NFP were both spontaneous and evoked neuropathic pain. Reported common adverse effects were nausea, dizziness, and somnolence, in order of frequency. Conclusions An intravenous continuous infusion of NFP reduces spontaneous and evoked neuropathic pain with tolerable adverse effects during the titration of oral medications in inpatients with PHN.

Multiplex ligase‐based genotyping methods combined with CE

In this genomic era, the ability to assay multiple genomic hot spots that have strong clinical implications is greatly desired. Conventional PCR‐based methods suffer from frequent false‐positive detections, particularly when a multiplex analysis is desirable. As an alternative to the error‐prone conventional methods, multiplex ligase‐based genotyping methods combined with CE have a strong potential. In this review, both previously developed methods and emerging methods are described to reveal the specificity, sensitivity, and simplicity of the ligase‐based methods. For each step (ligation, amplification, and separation), the principles of several alternative methods are discussed along with their applications to explore the future development of ligase‐based diagnostic methods.

Correction of Sunken Upper Eyelids by Anchoring the Central Fat Pad to the Medial Fat Pad during Upper Blepharoplasty

Background Many methods have been proposed for the correction of sunken upper eyelids. These methods include surgical treatments, such as micro-fat, dermofat, or fascia-fat grafts, or the use of alloplastic materials. Here, we present our experience of sunken upper eyelid correction involving the simple addition of anchoring the central fat pad to the medial fat pad during upper blepharoplasty. Methods We performed 74 cases of upper blepharoplasty with sunken upper eyelid correction between October 2013 and September 2014. The lateral portion of the central fat pad was partially dissected to facilitate anchoring. The medial fat pad was gently exposed and then pulled out to facilitate anchoring. After the rotation of the dissected lateral portion of the central fat pad by 180° to the medial side, it was anchored spreading to the medial fat pad. Photographs taken at 6 months postoperatively were presented to three physicians for objective assessment. Of the 74 patients, 54 patients followed at 6 months postoperatively were included in this retrospective, objective assessment. Results Sunken eyelids were effectively corrected in 51 of the 54 patients, but 3 had minimal effect because preaponeurotic fat pads had been removed during previous upper blepharoplasty. In addition to correcting sunken eyelids, lateral bulging was corrected and a better definition of the lateral portion of upper lid creases was obtained. Conclusions Anchoring the central fat pad to the medial fat pad provides an effective means of correcting sunken upper eyelids during upper blepharoplasty.

A simple and precise diagnostic method for spinal muscular atrophy using a quantitative SNP analysis system

A simple and precise diagnostic method for spinal muscular atrophy (SMA) using high‐resolution CE‐based single‐strand conformation polymorphism (CE‐SSCP) was developed in this study. SMA is a common genetic disorder caused by an abnormality in the relative copy numbers of SMN1 and its centromeric copy SMN2, which differ only in two nucleotides, namely at exons 7 and 8. Therefore, the precise discrimination of the differences in sequence as well as their relative quantities is crucial for the diagnosis of SMA. Multiplex ligation‐dependent probe amplification and sequence‐sensitive DNA separation using hydroxyethyl cellulose and hydroxypropyl cellulose blended polymer matrix are currently the available methods used in the diagnosis of SMA. However, these methods are limited by their extended hybridization step and low resolution. In this study, the simultaneous discrimination of SMN exons 7 and 8 was successfully demonstrated using high‐resolution CE‐SSCP. Unlike the previously reported alternative method, single base differing amplicons were baseline‐separated because of its extraordinary resolution, thus providing accurate and precise quantification of each paralog.

Pediatric Orbital Medial Wall Trapdoor Fracture with Normal Computed Tomography Findings

With advances in diagnostic technology, radiologic diagnostic methods have been used more frequently, and physical examination may be neglected. The authors report a case of pediatric medial orbital trapdoor fracture in which the surgery was delayed because computed tomography (CT) findings did not indicate bone displacement, incarceration of rectus muscle, or soft tissue herniation. A healthy 6-year-old boy was admitted to the emergency room for right eyebrow laceration. We could not check eyeball movement or diplopia, because the patient was irritable. Thus, we performed facial CT under sedation, but there was normal CT finding. Seven days later, the patient visited our hospital due to persistent nausea and dizziness. We were able to perform a physical examination this time. Lateral gaze of right eye was limited. CT still did not show any findings suggestive of fracture, but we decided to perform exploratory surgery. We performed exploration, and found no bone displacement, but discovered entrapped soft tissue. We returned the soft tissue to its original position. The patient fully recovered six weeks later. To enable early detection and treatment, thorough physical examination and CT reading are especially needed when the patient shows poor compliance, and frequent follow-up observations are also necessary.

Eccrine Poroma of the Postauricular Area

Eccrine poroma is a common benign cutaneous tumor that originates in an intraepidermal eccrine duct. This tumor exhibits acral distribution (sole, palm), and is rarely encountered in the head and neck area. In fact eccrine poroma in the postauricular area has only been rarely reported. A 55-year-old female visited our hospital with a main complaint of a mass that first developed in the left postauricular area about a year previously. The mass was painless, soft, protruding, domed, and dark red in color, and had slowly enlarged (at presentation it measured 1×1 cm). Excisional biopsy was performed. Histological examination showed distinct features, and eccrine poroma was diagnosed. Follow-up at 6 months postoperatively showed no recurrence. The frequency of eccrine poroma is dependent on eccrine sweat glands density, and thus, usually occurs on the palms or soles. For eccrine poroma in the head and neck region, the differential diagnosis must rule out other masses, such as nevus, skin tag, pyogenic granuloma, cyst, basal cell carcinoma, and seborrheic keratosis. Importantly, 18% of poromas show malignant transformation, and can develop into porocarcinoma. For these reasons, an eccrine poroma in the facial area requires histological examination, complete excision, and follow-up.

Extramammary Paget disease of the vulva: minimal excision with adjuvant radiation treatment for optimal aesthetic results.

Aims and background Extramammary Paget disease (EMPD) is an uncommon malignant neoplasm that occurs in areas containing apocrine glands, and the vulva is the most commonly involved site. Wide surgical excision with subsequent defect reconstruction is widely accepted as the first-line treatment for EMPD. More recently, radiation treatment has been considered an appropriate primary or adjuvant treatment. In an effort to replace wide excision and avoid unfavorable aesthetic results and sexual dysfunction, we decided to excise the tumor minimally and to add adjuvant radiation treatment. Methods A 71-year-old woman had EMPD at the right labium majus. The patient was treated by minimal excision with a 1-cm safety margin and by adjuvant radiation treatment weekly from 1 month to 3 months after surgery to a total dose of 70.2 Gy. Four months after completing the radiation treatment, a 10-point surgical biopsy around the site of previous resection was performed. Radiation treatment caused hypertrophy of the left labium minus, which was treated by additional labiaplasty (labium minus reduction) to obtain optimal aesthetic results. Results Surgical biopsy revealed no definite evidence of recurrence. Currently, the patient had no EMPD symptoms, is satisfied with a symmetrical vagina, and experiences no discomfort during ordinary activities or intercourse. Conclusions Minimal tumor excision (with a 1-cm safety margin), adjuvant radiotherapy, and additional labiaplasty were performed to treat EMPD. Complete tumor removal without recurrence, an aesthetically satisfactory result, and normal sexual function were achieved in this patient.

Delayed-Onset Methicillin-Resistant Staphylococcus aureus Infection at 18 Months after Absorbable Plate Fixation for Zygomaticomaxillary Complex Fracture

None of the reports of delayed infection mentioned a latent period exceeding 13 months. we report an infection that developed 18 months after implantation of an absorbable plate. A 16-year-old adolescent girl had undergone reduction and fixation with an absorbable plate for Lefort I and zygomaticomaxillary complex fractures 18 months prior at our hospital. In her most recent hospital visit as an outpatient, abscess was observed in periocular area. Computed tomography revealed sinusitis with an abscess above the infraorbital rim. Wound culture yielded methicillin-resistant Staphylococcus aureus . Despite conservative treatments, wound state did not improve. Therefore, our department decided to perform surgery. Absorbable plate had been mostly absorbed but remained a bit. Bony depression of infraorbital rim and mucosal exposure of maxillary sinus anterior wall were observed. After the surgery, the patient recovered. We believe that the reason the wound infection and sinusitis manifested at the same time is because of several factor such as alcohol abuse, smoking, and mucosal exposure of maxillary sinus anterior wall. Absorbable plate takes 9 months to 3 years to be completely absorbed, thus we suggest studies with a follow-up of at least 3 years be undertaken to determine the outcomes of patients with many risk factors.

A Retrospective Clinical View of Basal Cell Carcinoma and Squamous Cell Carcinoma in the Head and Neck Region: A Single Institution's Experience of 247 Cases over 19 Years

Background The two most common skin cancers are basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). The purpose of this study was to describe the detailed clinical behavior of BCC and SCC in the head and neck region over 19 years at a single institution. Methods A retrospective analysis was performed for all patients with non-melanoma skin cancer who had undergone surgical resection over an 18-year period. Patient charts were reviewed for demographic information, tumor size, onset-to-diagnosis, anatomic location, clinical subtype, histologic differentiation, method of surgical treatment, and recurrence. Results The review identified 265 cases of either BCC or SCC in 226 patients. Of the 226 patients, 80 (35.4%) were men and 146 (64.6%) were women. BCC (n=138, 55.9%) was more frequent than SCC (109, 44.1%). The most frequent age group was 70-to-79 year olds (45 patients, 35.2%) for BCC and 80-to-89 year olds (41 patients, 41.8%) for SCC. By aesthetic units of the face, the most common location was the nasal unit (44 cases, 31.9%) for BCC and the buccal unit (23 cases, 21.1%) for SCC. The most common clinical subtype of BCC was the nodular type (80 cases, 58.0%). Local flaps were most commonly used to cover surgical defects (136 cases, 55.1%). Recurrent rates were 2.2% for BCC and 5.5% for SCC. Conclusion In our study, many characteristics of BCC and SCC were compared to previously published reports were generally similar, except the ratio of BCC to SCC. Further study can help to establish the characteristics of BCC and SCC.