Preoperative scar perception study comparing 'scarless' in the neck endoscopic thyroidectomy with open thyroidectomy: a cross-sectional study.

INTRODUCTION: Open thyroidectomy is the most common approach to thyroid surgery. However, 'scarless' (in the neck) endoscopic thyroidectomy, consisting of endoscopic and robotic surgery, is progressively being adopted for its perceived cosmetic benefits. This study aims to determine the patient's preferred surgical approach and to identify the factors that influence their decision. MATERIALS AND METHODS: A pilot study consisting of 100 patients with a surgical thyroid disorder were prospectively recruited from a single tertiary centre. An interviewer-administered survey was conducted. Demographic, socioeconomic status, scar perception and an adapted body image scale were evaluated to identify factors that shaped the patient's perception of the surgical approach. RESULTS: The mean age of participants was 54.5 ± 13.0 years; 72% were women and 87% Chinese. Of the 100 patients, 75 patients considered scarless endoscopic thyroidectomy as their preferred surgical approach while 25 patients opted for open thyroid surgery. Improvement in scar perception score between scarless endoscopic thyroidectomy and open thyroid surgery is associated with an increased willingness to choose scarless endoscopic thyroidectomy. The mean body image scale score was 6.9 ± 2.8, indicating no statistical difference between the surgical approaches. On multivariate analysis, improvement in scar perception score (odds ratio 3.38, 95% confidence interval 1.11-10.29) and having surgeon recommendation (odds ratio 6.38, 95% confidence interval 1.80-22.63) were independently associated with interest in scarless endoscopic thyroidectomy. CONCLUSION: Patients interest in undergoing scarless endoscopic thyroidectomy is driven by improved scar perception and surgeon's recommendation compared with open thyroid surgery.

Identification of a new HLA-A*11 allele, A*11:251N.

The new allele, A*11:251N, differs from A*11:01:01 by insertion of two nucleotides at position 204-205.

Pseudogout - a rare manifestation of hungry bone syndrome after focused parathyroidectomy.

Pseudogout, also known as calcium pyrophosphate deposition disease, is a rheumatological condition arising from accumulation of calcium pyrophosphate dihydrate crystals in connective tissues. We present a case of a 56-year-old Bangladeshi woman who underwent focused right inferior parathyroidectomy for primary hyperparathyroidism from a right inferior parathyroid adenoma. On the first post-operative day, she complained of left elbow painful swelling with redness and warmth. Arthrocentesis of left elbow was done due to suspicion of septic arthritis. Two weeks prior to this surgery, she had sudden bilateral knee swelling was diagnosed in her home country of bilateral knee osteoarthritis with effusion and arthrocentesis showed no crystals. Aspiration of left elbow showed calcium pyrophosphate crystals, associated with post parathyroidectomy hypocalcemia, hypomagnesemia confirming pseudogout. Her uric acid level was normal. Bilateral wrist x-rays showed triangular fibrocartilage complex chondrocalcinosis. The patient's condition improved with colchicine and naproxen, as well as calcium and magnesium replacement. Her left elbow swelling and pain resolved. Pseudogout flare is a rare but known sequelae after parathyroidectomy. Early recognition and expeditious treatment is essential.

Ductal carcinoma in-situ arising within benign phyllodes tumours.

Ductal carcinoma in situ arising within a benign phyllodes tumour is a rare neoplasm of the breast. We present a case of a 19-year-old woman who had a right breast lump for six months with the above diagnosis together with a mini-review of the literature. Ultrasound revealed a 5-cm breast lump and core biopsy revealed ductal carcinoma in situ. She underwent wide local excision of the breast lump with clear margins. Final histology confirmed ductal carcinoma in situ within a fibroepithelial lesion consistent with a benign phyllodes tumour. To our knowledge, this is the youngest case of ductal carcinoma in situ arising in a phyllodes tumour to have been reported so far.

Three novel HLA alleles discovered in Koreans, HLA-A*26:118, DQB1*02:65 and DPB1*05:01:07.

Three novel HLA alleles, HLA-A*26:118, DQB1*02:65 and DPB1*05:01:07, were identified and confirmed by monoallelic sequencing.

Identification of the novel HLA-C*03 allele, HLA-C*03:03:35.

The new allele HLA-C*03:03:35 showed one nucleotide difference with C*03:03:01:01 at position 408 (G>T).

A new HLA-DQB1*04 allele, HLA-DQB1*04:01:05, identified in a Korean individual.

HLA-DQB1*04:01:05 differs from DQB1*04:01:01 by a single nucleotide substitution at codon 30 (TAC>TAT).

Four novel alleles in Korean individuals, HLA-B*40:323, DRB1*14:177, DQB1*03:200, and DQB1*06:205.

Four novel HLA alleles identified in Korean individuals and confirmed by monoallelic sequencing.

Identification of a new HLA-A*24 allele, A*24:313.

The new allele, A*24:313, showed one nucleotide difference with A*24:02:01 (595G>A).

Identification of the novel allele, HLA-C*15:02:01:03, by full-length genomic sequencing.

The HLA-C*15:02:01:03 allele differs from the HLA-C*15:02:01:01 allele by a single-nucleotide substitution in the 5' untranslated region (-42 C>A).

Identification of a new HLA-DRB1*04 allele, DRB1*04:10:03.

The new allele, DRB1*04:10:03, showed one nucleotide difference with DRB1*04:10:01 (705C>T).

Estimation of the 6-digit level allele and haplotype frequencies of HLA-A, -B, and -C in Koreans using ambiguity-solving DNA typing.

Because Korean society is fast becoming multi-ethnic, the determination of ambiguous human leukocyte antigen (HLA) types using HLA allele frequencies is becoming less applicable. In this study, we focused on the development of new technical methods to directly resolve the ambiguities arising from HLA genotyping. One hundred and fifty unrelated healthy Korean adults were included in this study. All alleles from each HLA locus were first divided into 2-4 groups, with each group amplified in a single PCR tube (multi-group-specific amplification, MGSA). To resolve phase ambiguities, some allele groups were also amplified separately in small group-specific amplification (SGSA) tubes. In order to then resolve incomplete sequence ambiguities, primers for MGSA and SGSA were initially designed to cover additional exons. If needed, a heterozygous ambiguity resolving primer (HARP) or sequence specific primer (SSP) was also used. When MGSA and SGSA methods were applied, the rate of phase ambiguity was greatly reduced to an average of 6% (1.3% in HLA-A, 15.7% in -B, and 2.0% in -C). Additional HARP and SSP methods could resolve all the phase ambiguities. Using our proposed method, we also detected three alleles that have not been previously reported in Korea, C*04:82, C*07:18, and C*08:22, and report 6-digit level HLA allele and haplotype frequencies among Koreans. In conclusion, the use of MGSA/SGSA for the initial amplification step is a cost-effective method facilitating timely and accurate reporting, given the continuing increase in the ethnic diversity of the Korean population. The MGSA described here can be applicable to various populations and thus could be shared by the majority of HLA typing laboratories. However, efforts to solve HLA ambiguity should continue, because SGSA, HARPs and SSPs would be specific to a particular population.

HLA-B*40:02:18, a new HLA-B*40 allele.

The new allele B*40:02:18 showed one nucleotide difference with B*40:02:01 at codon 111 (CGC/CGT).

A new HLA-A*02 allele, A*02:465.

The new allele A*02:465 showed one nucleotide difference with A*02:06:01 (172G>A).

A new allele, HLA-DQB1*05:50, identified by sequence-based typing in a Korean individual.

The new allele DQB1*05:50 showed one nucleotide difference with DQB1*05:03:01:01 at codon 39 (CGC/CAC).

The novel HLA-C*03:02:02:03 identified by cloning and genomic full-length sequencing.

The sequence of the C*03:02:02:03 differs from that of C*03:02:02:01 by one nucleotide substitution in the 5' UTR at position -57 (C>A).

Analysis of hepatitis B virus drug-resistant mutant haplotypes by ultra-deep pyrosequencing.

Direct sequencing and reverse hybridization are currently the main methods for detecting drug-resistance mutations of hepatitis B virus (HBV). However, these methods do not enable haplotype analysis so they cannot be used to determine whether the mutations are co-located on the same viral genome. This limits the accurate identification of viral mutants that are resistant to drugs with a high genetic barrier. In our current study, ultra-deep pyrosequencing (UDPS) was used to detect HBV drug-resistance mutations in 25 entecavir-treated and five treatment-naive patients. Of the 25 entecavir-treated patients, 18 had experienced virological breakthrough and two exhibited reduced susceptibility to entecavir. The results obtained by UDPS were compared with those of direct sequencing, and the haplotypes of the drug-resistant HBV mutants were analysed. The average number of reads per patient covering the region in which drug-resistance mutations are located was 1735 (range 451-4526). UDPS detected additional drug-resistance mutations not detected by direct sequencing in 19 patients (mutation frequency range 1.1-23.8%). Entecavir-resistance mutations were found to be co-located on the same viral genome in all 20 patients displaying virological breakthrough or reduced susceptibility to entecavir. In conclusion, UDPS was not only sensitive and accurate in identifying drug-resistance mutations of HBV but also enabled haplotype analysis of the mutants. This method may offer significant advantages in explaining and predicting the responses of patients with HBV to antiviral therapy.

MICB polymorphisms and haplotypes with MICA and HLA alleles in Koreans.

Major histocompatibility complex (MHC) class I chain-related gene B (MICB) is located within the human MHC class I region. The location of MICB in the MHC region may imply the presence of linkage disequilibrium with polymorphic MICA and human leukocyte antigen (HLA) loci. MICB is also polymorphic; however, MICB polymorphisms have not been investigated in Koreans. Using sequence-based typing (SBT), we estimated the allelic frequencies of MICB and haplotypes with MICA, HLA-B, and HLA-DRB1 at high resolution in a population of 139 unrelated Korean individuals. Eight MICB alleles were identified. The most frequent allele was MICB*005:02/*010 (57.2%), followed by *002 (11.5%), *004 (8.3%), *005:03 (8.3%), and *008 (6.8%). The most common two-locus haplotypes were MICB*005:02/*010-MICA*010 (19.4%), MICB*005:02/*010-DRB1*15:01 (6.5%), and MICB*005:02/*010-B*15:01 (10.4%); the most common three-locus haplotypes were B*15:01-MICA*010-MICB*005:02/*010 (5.8%) and MICA*010-MICB*005:02/*010-DRB1*04:06 (10.4%); and the most common four-locus haplotype was B*15:01-MICA*010-MICB*005:02/*010-DRB1*04:06 (5.8%). This is the first study to provide information about MICB allele frequencies and haplotypes with HLA in Koreans. These study results should help understand mechanisms of disease association between the MICB locus and neighboring loci in Koreans.