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Background: Generalized pustular psoriasis (GPP; MIM 614204) is a rare multisystemic autoinflammatory disease, characterized by episodes of acute generalized erythema and scaling developed with the spread of numerous sterile pustules. Adult-onset immunodeficiency syndrome (AOID) with anti-interferon-γ autoantibodies is an immunodeficiency disorder associated with disruptive IFN-γ signaling. Methods: Clinical examination and whole exome sequencing (WES) were performed on 32 patients with pustular psoriasis phenotypes and 21 patients with AOID with pustular skin reaction. Histopathological and immunohistochemical studies were performed. Results: WES identified four Thai patients presenting with similar pustular phenotypes—two with a diagnosis of GPP and the other two with AOID—who were found to carry the same rare TGFBR2 frameshift mutation c.458del; p.Lys153SerfsTer35, which is predicted to result in a marked loss of functional TGFBR2 protein. The immunohistochemical studied showed overexpression of IL1B, IL6, IL17, IL23, IFNG, and KRT17, a hallmark of psoriatic skin lesions. Abnormal TGFB1 expression was observed in the pustular skin lesion of an AOID patient, suggesting disruption to TGFβ signaling is associated with the hyperproliferation of the psoriatic epidermis. Conclusions: This study implicates disruptive TGFBR2-mediated signaling, via a shared truncating variant, c.458del; p.Lys153SerfsTer35, as a "predisposing risk factor" for GPP and AOID. [ABSTRACT FROM AUTHOR]

Pulmonary mucormycosis is a very rare clinical condition in patients without underlying risk factors. A limited number of cases have been reported in predominantly elderly patients; history of smoking appears to be a common feature. A case of non-smoking male who developed pulmonary mucormycosis with the longest reported follow-up is presented. In addition, this is also the first reported case with disease recurrence after lobectomy (two years) in an immunocompetent host. Treatment with an additional lobectomy and amphotericin B was successful in this patient.

Background: Generalized pustular psoriasis (GPP; MIM 614204) is a rare multisystemic autoinflammatory disease, characterized by episodes of acute generalized erythema and scaling developed with the spread of numerous sterile pustules. Adult-onset immunodeficiency syndrome (AOID) with anti-interferon-γ autoantibodies is an immunodeficiency disorder associated with disruptive IFN-γ signaling., Methods: Clinical examination and whole exome sequencing (WES) were performed on 32 patients with pustular psoriasis phenotypes and 21 patients with AOID with pustular skin reaction. Histopathological and immunohistochemical studies were performed., Results: WES identified four Thai patients presenting with similar pustular phenotypes-two with a diagnosis of GPP and the other two with AOID-who were found to carry the same rare TGFBR2 frameshift mutation c.458del; p.Lys153SerfsTer35, which is predicted to result in a marked loss of functional TGFBR2 protein. The immunohistochemical studied showed overexpression of IL1B, IL6, IL17, IL23, IFNG, and KRT17, a hallmark of psoriatic skin lesions. Abnormal TGFB1 expression was observed in the pustular skin lesion of an AOID patient, suggesting disruption to TGFβ signaling is associated with the hyperproliferation of the psoriatic epidermis., Conclusions: This study implicates disruptive TGFBR2-mediated signaling, via a shared truncating variant, c.458del; p.Lys153SerfsTer35, as a "predisposing risk factor" for GPP and AOID.

Pulmonary mucormycosis is a very rare clinical condition in patients without underlying risk factors. A limited number of cases have been reported in predominantly elderly patients; history of smoking appears to be a common feature. A case of non-smoking male who developed pulmonary mucormycosis with the longest reported follow-up is presented. In addition, this is also the first reported case with disease recurrence after lobectomy (two years) in an immunocompetent host. Treatment with an additional lobectomy and amphotericin B was successful in this patient.

Background: Primary nocturnal enuresis is the most frequent urologic complaint among pediatric patients. Enuresis is believed to have a complex etiology involving genetic, somatic, and behavioral factors. We study the relationship between seasonal temperature changes effect and monosymptomatic nocturnal enuresis (MNE)., Methods: Between 2011 and 2012, a total of 75 children with primary MNE selected from urology and pediatry clinics were included in this study. All of the children underwent physical examinations, urine analyses, urinary ultrasounds, and direct urinary graphs. We evaluated the enuresis ratio for the summer (the hot season from June to September) and winter (the cold season from December to March) months in nightly, weekly, and monthly intervals via prepared questionnaires., Results: Of the 75 study participants, 45 were boys (60%) and 30 were girls (40%). The age range was 6-16 years (mean 10.3±2.0 years). We observed a difference in the ratio of enuresis data between the summer and winter months in 29 males and 19 females, which totals 48 of the 75 MNE patients evaluated in this study. There was a statistically significant difference noted in monthly enuresis ratio in the summer and winter (p<0.0001). We observed a significant difference in quality of life, and this difference caused considerable emotional discomfort for the patients., Conclusion: In the winter months, the nightly, weekly, and monthly ratios are higher in children with MNE. This increase causes a decrease in the quality of life of these children.