Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report.

Mucopolysaccharidosis II (MPS II) is a lysosomal storage disease caused by a deficiency in iduronate-2-sulfatase (IDS), leading to the accumulation of dermatan sulfate and heparan sulfate in lysosomes. Traditionally, genotyping of the gene has been conducted through exome sequencing, which fails to detect inversion variants. Consequently, when no pathogenic variants are detected in exons, additional PCR-based analysis is required.

Decrease in the Internal Cerebral Vein Pulsation With Improvement of Patent Ductus Arteriosus in Premature Infants at the Risk of Intraventricular Hemorrhage: Two Interesting Case Reports.

Recently, augmenting the pulsation of the internal cerebral vein (ICV) has been reported to be a predictor of premature intraventricular hemorrhage (IVH); however, prophylaxis for IVH has not yet been established. Venous pulsation is a marker of central venous pressure elevation and may be improved after heart failure treatment. Herein, we report two cases of low-birth-weight infants (29 weeks and 31 weeks of gestational age), who exhibited improvements in ICV pulsation with relief of hemodynamically significant patent ductus arteriosus (hs-PDA) following indomethacin administration.

Sulfur-Bridged Cationic Diazulenomethenes: Formation of Charge-Segregated Assembly with High Charge-Carrier Mobility.

Sulfur-bridged cationic diazulenomethenes were synthesized and exhibited high stability even under basic conditions due to the delocalization of positive charge over the whole π-conjugated skeleton. As a result of the effective delocalization and the absence of orthogonally oriented bulky substituents, the cationic π-conjugated skeletons formed a π-stacked array with short interfacial distances. A derivative with SbF as a counter anion formed a charge-segregated assembly in the crystalline state, rather than the generally favored charge-by-charge arrangement of oppositely charged species based on electrostatic interactions.

Reverse Posterior Interosseous Artery Flap for Human Bite Injury to the Hand.

Bite injuries frequently occur on human hands. Human bite injuries to the hand may lead to an infection because of limited soft tissue protection and wound contamination. However, no studies have reported severe bite injuries on hands treated by flaps.

A Lateral Fracture Line Affects Femoral Trochanteric Fracture Instability and Swing Motion of the Intramedullary Nail: A Biomechanical Study.

Background: An unstable trochanteric femoral fracture is a serious injury, with a 1-year mortality rate of 5.4% to 24.9%, for which there is currently no standard treatment method.

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan.

Mucopolysaccharidosis II (MPS II) is an X-linked, recessive, inborn metabolic disorder caused by defects in iduronate-2-sulfatase (IDS). The age at onset, disease severity, and rate of progression vary significantly among patients. This disease is classified into severe or mild forms depending on neurological symptom involvement.

Evaluation of the effect of granule size of raw tableting materials on critical quality attributes of tablets during the continuous tablet manufacturing process using near-infrared spectroscopy.

Objective: The effects of granule size of raw materials on tablet hardness (TH) and weight (TW) in the continuous tablet manufacturing process (CTMP) were investigated using near-infrared spectroscopy (NIRS).

Methods: Granule materials of different sizes were prepared by extrusion granulation from a standard granule formula powder containing lactose/starch and 4.5% acetaminophen.

Nontuberculous mycobacteriosis oligoarthritis of the right hand misdiagnosed as rheumatoid arthritis: A case report.

Infection with Mycobacterium marinum has several different clinical presentations. Most commonly, it appears as a solitary papulonodular lesion on an extremity. A rare presentation of osteoarticular M.

Median Nerve Recovery and Morphological Change on MRI at 24 Months after Open Carpal Tunnel Release.

This study aimed to investigate the relationship between postoperative clinical results and long-term morphological changes in patients with carpal tunnel syndrome (CTS) as observed on magnetic resonance imaging (MRI) before and after open carpal tunnel release (OCTR). We retrospectively analysed data for 28 hands that had undergone OCTR with at least 24 months of follow-up data. Two-point discrimination (2PD) test results were examined for the first three fingers, as were the distal motor latency (DML) and sensory conduction velocity (SCV) of the median nerve.

Elective Cesarean Section during Preterm Prevents Pulmonary Hypoplasia Development in Potter Sequence.

Potter syndrome, first reported in 1946 by Edith Potter, refers to fatal cases of bilateral renal aplasia with pulmonary hypoplasia, peculiar facial features, and limb deformities. Presently, patients with oligohydramnios showing similar pathological manifestations due to oligohydramnios caused by conditions other than bilateral renal aplasia have been reported, and are known as the Potter sequence. There are limited studies and unclear guidelines on the safest delivery time and detailed postpartum management for patients with the Potter sequence.

Prognosis and Outcomes of Clinically Diagnosed Cardiac Sarcoidosis Without Positive Endomyocardial Biopsy Findings.

Background: Diagnosis of cardiac sarcoidosis (CS) is sometimes difficult due to a low positive rate of epithelioid granulomas by endomyocardial biopsy (EMB). Accordingly, Japanese guidelines can allow the CS diagnosis using clinical data alone without EMB results (clinical CS) since 2006. However, little is known about prognosis and outcome of clinical CS.

Algorithm and hyperparameter optimizations for hetero-device classification by near-infrared spectra of falsified and substandard amoxicillin capsules.

In this work, we optimized classification algorithms and the hyperparameters for screening falsified and substandard amoxicillin capsules. The distribution of low-quality medical products is a serious problem, especially in low- and middle-income countries. Near-infrared (NIR) spectroscopy has been proposed as the first choice for a screening device.

Comparative study on the real-time monitoring of a fluid bed drying process of extruded granules using near-infrared spectroscopy and audible acoustic emission.

The process of fluidized bed drying of granules was comparatively evaluated by on-line real-time measurements of granule moisture content (MC) using near-infrared spectroscopy (NIR) and audible acoustic emission (AAE). The extruded granules were prepared by kneading a powder blend containing lactose, starch, crystalline cellulose, and riboflavin, with water. The MC of the granules (while they were dried at 35 °C in a fluidized bed dryer) was monitored simultaneously with NIR and AAE.

Mechanochemical Effect on Controlled Drug Release of Konjac Glucomannan Matrix Tablets during Dry Grinding.

To design a controlled drug release preparation based on a safe natural material, a Konjac glucomannan (KGM) mixture containing 16.0 % calcium hydroxide (Ca(OH)) was ground in a planetary ball mill for 0-120 min. The mechanochemical effect on the physicochemical properties of the KGM ground product was investigated by Fourier-transform infrared spectroscopy (FT-IR), powder X-ray spectroscopy, scanning electron microscopy with energy-dispersive X-ray spectroscopy, and drug release testing.

Facile synthesis of an ambient stable pyreno[4,5-]pyrrole monoanion and pyreno[4,5-:9,10-']dipyrrole dianion: from serendipity to design.

The stability of singly or multiply negatively charged π-conjugated organic compounds is greatly influenced by their electronic delocalization. Herein, we report a strategic methodology for isolation of a mysterious compound. The isolated compounds, a pyreno[4,5-]pyrrole monoanion and pyreno[4,5-:9,10-']dipyrrole dianion, were highly stable under ambient conditions due to high delocalization of the negative charge over multiple electron deficient C[triple bond, length as m-dash]N groups and pyrene π-scaffolds and allowed purification by column chromatography.

Sex-related differences in the prognosis of patients with cardiac sarcoidosis treated with cardiac resynchronization therapy.

Background: Past studies have shown the sex-related difference in the efficacy of cardiac resynchronization therapy (CRT). However, the data for cardiac sarcoidosis (CS) are limited.

Objective: The purpose of this study was to assess the sex-related prognostic differences in CS patients with CRT.

Device-Independent Discrimination of Falsified Amoxicillin Capsules Using Heterogeneous Near-Infrared Spectroscopic Devices for Training and Testing of a Support Vector Machine.

The objective of this work is to demonstrate the potential of near-infrared spectroscopy for common screening of falsified medicines in the field by means of a device-independent universal discrimination approach. In order to provide a useful discrimination tool to protect people from low-quality medical products, not only is a low-cost and portable screening device necessary, but a reference library is also essential. The authors believe that a device-dependent reference library inhibits near-infrared spectroscopy from becoming a popular screening tool.