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Background: The gold standard for coronavirus disease (COVID‐19) diagnosis has been the detection of severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) RNA by nucleic acid amplification testing (NAAT). On the other hand, serological testing for COVID‐19 may offer advantages in detecting possibly overlooked infections by NAAT. Methods: To evaluate seroconversion of NAAT‐negative pneumonia patients, immunoglobulin M (IgM) and IgG targeting the spike protein of SARS‐CoV‐2 were semiquantified by an immunofluorescence assay. Seroconversion was confirmed by another serological method, targeting the nucleocapsid protein. Results: Eight suspected but unconfirmed COVID‐19 pneumonia patients (median age, 39 years; range, 21–55) were included. The median period between symptom onset and NAAT sample collection was 6 days (2–27 days). None of them had tested positive for SARS‐CoV‐2 by NAAT. In contrast, all eight patients revealed seropositivity with the two serological methods, indicating actual seroconversion against SARS‐CoV‐2. The median period between onset and blood sampling was 26.5 days (7–51 days). Conclusion: Eight patients with COVID‐19 pneumonia, initially tested negative for SARS‐CoV‐2 by NAAT, were finally confirmed of the diagnosis by serological testing. To cover the whole spectrum of this heterogenous infectious disease, serology testing should be implemented to the multitiered diagnostic algorithm for COVID‐19. [ABSTRACT FROM AUTHOR]

TGM1 is the most common gene responsible for lamellar ichthyosis. Previous studies have suggested that patients with lamellar ichthyosis carrying two missense mutations in TGM1 show significantly less severe phenotypes than those with at least one truncating mutation in TGM1. Here, we report a patient with severe lamellar ichthyosis who was compound heterozygous for TGM1 missense mutations, including a novel one. A 22‐year‐old Japanese man presented with large, dark brown, plate‐like scales on the extremities and small adherent scales on the face and trunk. His other clinical findings included ectropion, hair loss, hypohidrosis, hyperthermia in summer, palmoplantar keratoderma and constriction of the fingers. Dermoscopy revealed accentuated sulci cutis with numerous large keratotic plugs in the cristae cutis. Histologically, orthohyperkeratosis and mild acanthosis were noted. Electron microscopy showed reduced cornified envelope thickness and numerous lipid droplets in the stratum corneum. Mutation analysis revealed the patient to be compound heterozygous for missense mutations, c.620T>C (p.Leu207Pro) and c.1631A>G (p.Tyr544Cys), in TGM1. Furthermore, we showed that TGM1 enzymatic activity was largely absent in his epidermis. These findings led us to diagnose him as having lamellar ichthyosis. This study has two important notions. First, even two missense mutations in TGM1 can cause severe lamellar ichthyosis. Second, this is the first report of dermoscopic findings of lamellar ichthyosis, implicating the obstruction of sweat glands by keratotic plugs in the pathogenesis of hypohidrosis in the disease. In conclusion, this study provides further insights into genotype–phenotype correlations and pathogenesis in lamellar ichthyosis. [ABSTRACT FROM AUTHOR]

Punctate palmoplantar keratoderma type 1 ( PPKP1) is a rare autosomal dominant disorder of keratinization, clinically characterized by punctate keratotic papules affecting the palmoplantar skin. Loss-of-function mutations in AAGAB have recently been reported as a cause of PPKP1. Despite the discovery of the genetic cause of PPKP1, pathogenesis-based therapies are still unavailable. Moreover, little is known about the effectiveness of treatments for PPKP1. In this study, we analyzed a Japanese woman with PPKP1 and identified a novel frame-shift mutation c.195_198del4 (p.Lys66Phefs*43) in AAGAB. Moreover, low-dose etretinate was effective in improving the PPKP1 lesions in our patient. Our published work review identified only eight cases of PPKP1 with successful response to topical or systemic treatments. Notably, six of the cases were successfully treated with systemic retinoids. Thus, this study clearly provides further evidence that PPKP1 is caused by AAGAB mutations and that systemic retinoids are the most promising current treatment for PPKP1. [ABSTRACT FROM AUTHOR]

The optical and scintillation properties of 0.5% fixed Ce-doped (Y1- xGd x)AlO3 single crystals have been investigated at three different levels of Gd doping: x = 0.2, 0.4 and 0.6. Single crystal of the Ce3+-doped (Y0.8Gd0.2)AlO3, (Y0.6Gd0.4)AlO3 and (Y0.4Gd0.6)AlO3 were successfully grown by μ-PD technique in nitrogen atmosphere. From X-ray diffraction analysis, no impurity phase was detected for the grown Ce-doped crystals. Ce-doped (Y0.6Gd0.4)AlO3 crystal demonstrated highest fluorescence quantum efficiency (∼ 25%) with improvement of excitation efficiency due to the Gd-doping. When irradiated by the alpha-rays from a 241Am source, all the Ce-doped crystals showed luminescence band that corresponding to 5d (t2g)-4f transition of Ce3+. The scintillation decay time was characterized by two components; the fast component (5-15 ns) is ascribed to 5d-4f transition of Ce3+, while the slow one (100-200 ns) may be related to energy transfer between Ce3+ and Gd3+ ion. According to the result of 137Cs gamma-ray irradiated pulse height spectra compared with BGO scintillator, the relative scintillation light output was found to be about 12200 ± 1220 (Gd 20%) and 16000 ± 1600 (Gd 40%) ph/MeV. (© 2012 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim) [ABSTRACT FROM AUTHOR]

Liver biopsy revealed marked extramedullary haematopoiesis within sinusoids (left). Attempted bone marrow aspiration was a dry tap and bone marrow biopsy revealed collagen fibrosis. Ultrasonography showed extensive ascites, hepatomegaly and splenomegaly. [Extracted from the article]