A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome

BACKGROUND: Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-organ cancer, most frequently those involving the gastrointestinal tract. Germline mutation of the STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. METHODS: Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the STK11 gene using polymerase chain reaction (PCR) and direct sequencing. RESULTS: Sequencing of the STK11 gene in the proband of the family revealed a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation resulted in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. We did not observe this mutation in both parents of the PJS patient. Therefore, it is considered a novel de novo mutation. CONCLUSION: The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS with or without a positive family history

Freshwater and Terrestrial Algae from Ny-Ålesund and Blomstrandhalvøya Island (Svalbard)

A field survey of algae and cyanobacteria from terrestrial and freshwater habitats in the vicinity of Ny-Ålesund and on Blomstrandhalvøya Island (Svalbard) was performed in June 2009, and results were compared with data from our fieldwork in June 2006. In total, we identified 30 taxa belonging to 23 genera from the specimens collected near Ny-Ålesund (26 taxa) and on Blomstrandhalvøya Island (24 taxa). Five species previously unrecorded from this locality are depicted, including astaxanthin-containing Haematococcus sp. collected from Blomstrandhalvøya Island. This is the first report on a Haematococcus species from the High Arctic.Une étude sur le terrain portant sur les algues et les cyanobactéries d’habitats terrestres et dulçaquicoles dans les environs de Ny-Ålesund et de l’île Blomstrandhalvøya (Svalbard) a été réalisée en juin 2009, et les résultats ont été comparés aux données de notre travail sur le terrain effectué en juin 2006. En tout, nous avons identifié 30 taxons appartenant à 23 genres à partir de spécimens prélevés près de Ny-Ålesund (26 taxons) et de Blomstrandhalvøya (24 taxons). Cinq espèces qui n’avaient jamais été répertoriées dans cette localité sont illustrées, dont l’Haematococcus sp. contenant de l’astaxanthine recueillie à l’île Blomstrandhalvøya. Il s’agit de la première fois que l’espèce Haematococcus a été signalée dans l’Extrême-Arctique

Unraveling Diffusion in Fusion Plasma: A Case Study of In Situ Processing and Particle Sorting

This work starts an in situ processing capability to study a certain diffusion process in magnetic confinement fusion. This diffusion process involves plasma particles that are likely to escape confinement. Such particles carry a significant amount of energy from the burning plasma inside the tokamak to the diverter and damaging the diverter plate. This study requires in situ processing because of the fast changing nature of the particle diffusion process. However, the in situ processing approach is challenging because the amount of data to be retained for the diffusion calculations increases over time, unlike in other in situ processing cases where the amount of data to be processed is constant over time. Here we report our preliminary efforts to control the memory usage while ensuring the necessary analysis tasks are completed in a timely manner. Compared with an earlier naive attempt to directly computing the same diffusion displacements in the simulation code, this in situ version reduces the memory usage from particle information by nearly 60% and computation time by about 20%

Measurement of Blood Pressure Using an Arterial Pulsimeter Equipped with a Hall Device

To measure precise blood pressure (BP) and pulse rate without using a cuff, we have developed an arterial pulsimeter consisting of a small, portable apparatus incorporating a Hall device. Regression analysis of the pulse wave measured during testing of the arterial pulsimeter was conducted using two equations of the BP algorithm. The estimated values of BP obtained by the cuffless arterial pulsimeter over 5 s were compared with values obtained using electronic or liquid mercury BP meters. The standard deviation between the estimated values and the measured values for systolic and diastolic BP were 8.3 and 4.9, respectively, which are close to the range of values of the BP International Standard. Detailed analysis of the pulse wave measured by the cuffless radial artery pulsimeter by detecting changes in the magnetic field can be used to develop a new diagnostic algorithm for BP, which can be applied to new medical apparatus such as the radial artery pulsimeter

Wireless thin film transistor based on micro magnetic induction coupling antenna

A wireless thin film transistor (TFT) structure in which a source/drain or a gate is connected directly to a micro antenna to receive or transmit signals or power can be an important building block, acting as an electrical switch, a rectifier or an amplifier, for various electronics as well as microelectronics, since it allows simple connection with other devices, unlike conventional wire connections. An amorphous indium gallium zinc oxide (α-IGZO) TFT with magnetic antenna structure was fabricated and studied for this purpose. To enhance the induction coupling efficiency while maintaining the same small antenna size, a magnetic core structure consisting of Ni and nanowires was formed under the antenna. With the micro-antenna connected to a source/drain or a gate of the TFT, working electrical signals were well controlled. The results demonstrated the device as an alternative solution to existing wire connections which cause a number of problems in various fields such as flexible/wearable devices, body implanted devices, micro/nano robots, and sensors for the 'internet of things' (IoT).1

Acute Cerebral Infarction Following Intravenous Glycoprotein IIb/IIIa Inhibitor for Acute Myocardial Infarction

Stroke is a rare but serious complication of acute myocardial infarction (AMI). Currently, glycoprotein (GP) IIb/IIIa inhibitor is used in clinical practice for acute coronary syndromes and percutaneous coronary interventions (PCIs). The incidence of stroke in patients receiving GP IIb/IIIa inhibitor during PCIs is very low. We report the case of a 47-year-old man who presented with AMI and suffered an acute cerebral infarction after infusion of a GP IIb/IIIa inhibitor following primary PCI

Outcomes of Endoscopic Tympanoplasty for Large Perforations: A Multicenter Retrospective Study in South Korea

Objectives. Endoscopic tympanoplasty (ET) provides minimally invasive transcanal access to the middle ear and improves middle ear visibility for the treatment of tympanic membrane (TM) perforations. However, the literature on surgical outcomes for large TM perforations is lacking and limited to small series. This study aimed to evaluate the clinical benefits of ET for large TM perforations. Methods. This retrospective cohort study was conducted at nine tertiary referral hospitals in South Korea, where 252 patients who underwent ET as primary surgery from September 2019 to August 2021 were included. The outcome measures included the graft success rate and pre- and postoperative audiometric data. Results. In 239 patients, the graft success rate of ET for large or subtotal perforations was 86.2% (206 patients), while the graft failure rate was 13.8% (33 patients). The graft failure rate was directly correlated with surgical techniques, including overlay and medial or lateral underlay tympanoplasty (P=0.027). Lateral underlay tympanoplasty showed the most favorable results. Sex, laterality, etiology, site and size of perforation, operation time, and graft materials did not vary significantly between the graft success and failure groups (P>0.05). The mean air-bone gap (ABG) improved significantly in both groups (graft success group: 10.0±0.6 dB and graft failure group: 7.7±0.3 dB; P<0.001). However, the ABG improvement did not significantly differ between the groups. Analysis of covariance revealed that the postoperative 500-Hz bone conduction threshold improved after successful ET (adjusted coefficient, –11.351; 95% confidence interval, –21.491 to –1.212; P=0.028). Conclusion. This study involved the largest population to date of large TM perforations treated by ET. The study findings suggest that ET is feasible and effective in treating large TM perforations