Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.

Phenylketonuria (PKU) and hyperphenylalaninemia (HPA), both identified in newborn screening, are attributable to variants in PAH. Reportedly, the p.R53H(c.158G>A) variant is common in patients with HPA in East Asia. Here, we aimed to define the association between p.R53H and HPA phenotype, and study the long-term outcome of patients with HPA carrying p.R53H. We retrospectively reviewed the genotype in 370 patients detected by newborn screening, and identified the phenotype in 280 (117, HPA; 163, PKU). p.R413P(c.1238G>C) was the most frequently found (n = 117, 31.6%) variant, followed by p.R53H (n = 89, 24.1%). The odds ratio for heterozygous p.R53H to cause HPA was 48.3 (95% CI 19.410-120.004). Furthermore, we assessed the non-linear association between the phenylalanine (Phe) value and elapsed time using the follow-up data of the blood Phe levels of 73 patients with HPA carrying p.R53H. The predicted levels peaked at 161.9 µmol (95% CI 152.088-172.343) at 50-60 months of age and did not exceed 360 µmol/L during the 210-month long observation period. The findings suggest that patients with HPA, carrying p.R53H, do not need frequent Phe monitoring as against those with PKU. Our study provides convincing evidence to determine clinical management of patients detected through newborn screening in Japan.

A metal-lustrous porphyrin foil.

A metal-lustrous self-standing film, named "porphyrin foil", was formed from a glass-forming polymeric porphyrin. The amorphous glass nature of the porphyrin foil played a key role in spontaneously producing a smooth surface. Its sharp contrast in intense absorption and specular reflection of light at each wavelength provided a brilliant metallic lustre.

Resonantly Enhanced Emission from a Luminescent Nanostructured Waveguide.

Controlling the characteristics of photon emission represents a significant challenge for both fundamental science and device technologies. Research on microcavities, photonic crystals, and plasmonic nanocavities has focused on controlling spontaneous emission by way of designing a resonant structure around the emitter to modify the local density of photonic states. In this work, we demonstrate resonantly enhanced emission using luminescent nanostructured waveguide resonance (LUNAR). Our concept is based on coupling between emitters in the luminescent waveguide and a resonant waveguide mode that interacts with a periodic nanostructure and hence outcouples via diffraction. We show that the enhancement of resonance emission can be controlled by tuning the design parameters. We also demonstrate that the enhanced emission is attributable to the accelerated spontaneous emission rate that increases the probability of photon emission in the resonant mode, accompanied by enhanced the local density of photonic states. This study demonstrates that nanostructured luminescent materials can be designed to exhibit functional and enhanced emission. We anticipate that our concept will be used to improve the performance of a variety of photonic and optical applications ranging from bio/chemical sensors to lighting, displays and projectors.

Azacitidine-induced pneumonitis in a patient with myelodysplastic syndrome: first case report in Japan.

A 74-year-old Japanese man with myelodysplastic syndrome (MDS) received chemotherapy with azacitidine. From the second day after starting the administration, he complained of fever, cough and shortness of breath. Chest roentgenography and computed tomography showed consolidations and ground-glass opacities. His symptoms grew from worse to life-threatening. We diagnosed him with azacitidine-induced pneumonitis and began administering corticosteroids. Thereafter, his symptoms and radiographic abnormalities improved. Azacitidine is a hypomethylating agent that improves the survival of MDS patients. Although this drug is commonly well tolerated and rarely causes severe lung injury, it is important to consider the potentially serious adverse effects of azacitidine-induced pneumonitis.

[Successful surgical ligation and transection of racemose hemangioma of bronchial artery].

We report two cases of bilateral racemose hemangioma in patients with hemoptysis. Case 1 was a 62-year-old woman who visited a local clinic complaining of hemoptysis. Bronchoscopy revealed multiple pulsating tumorous lesions and she was referred to our department. Chest Multidetector CT (MDCT) disclosed bilateral enlarged and convoluted, abnormal bronchial arteries and primary racemose hemangioma was diagnosed. Bronchial artery embolization was selected, but not conducted because of concern regarding the arteriovenous shunt and escape into the greater circulation. In combination with thoracoscopic mini-thoracotomy, ligation and separation of the bronchial artery were performed. Case 2 was a 68-year-old man who was transferred to our department with a chief complaint of hemoptysis. MDCT revealed bilateral bronchiectasis and a convoluted and enlarged, abnormal bronchial artery along the mediastinum. He was diagnosed as having secondary racemose hemangioma. First, bronchial artery embolization was conducted, but hemostasis was difficult, thus surgical ligation was conducted. In both cases, MDCT was effective for diagnosis and surgical ligation is very important as a therapeutic option for racemose hemangioma.

Pulmonary nocardiosis in a patient treated with corticosteroid therapy.

We report a case of pulmonary nocardiosis in a 69-year-old man with rheumatoid arthritis who was receiving corticosteroid treatment. The patient received prednisolone for rheumatoid arthritis and antibiotics for his fever and pneumonia in another hospital, but the response to the therapy was poor. After admission to our hospital, he improved following treatment with imipenem/cilastatin for Nocardia asteroides. Pulmonary nocardiosis is difficult to diagnose and should be considered in the differential diagnosis, especially in an immunocompromised host.