Search

Incontinentia pigmenti (IP) is a rare genetic disorder characterized by skin lesions along the lines of Blaschko. Most patients with IP have a genetic deletion in the IKBKG gene, which is located on the X chromosome. Males with this deletion typically do not survive, while females can display a range of symptoms depending on X-inactivation. This study describes a duplication variant in the IKBKG gene found in two families with IP, resulting in different phenotypes in males and females. The findings suggest that mosaicism, or the presence of different genetic variations in different cells, can contribute to the expression of IKBKG-related disorders in males. [Extracted from the article]

We investigated the impact of the COVID-19 pandemic on call volumes and call characteristics using data from a national crisis helpline. Data were extracted for 215,066 calls to Taiwan's national suicide prevention hotline (January 2018–May 2020). We used negative binomial regression to investigate changes in the weekly number of calls during the early period of the COVID-19 outbreak (January 21, 2020–May 25, 2020), relative to that expected according to the pre-pandemic trend. The call characteristics during the pandemic period (February 18, 2020–May 31, 2020) were compared between COVID-19 related vs unrelated calls. Higher-than-expected call volumes started from the 6th week of the pandemic and reached a peak in the 14th week, which was 38% (rate ratio = 1.38, 95% confidence interval 1.26–1.51) higher than that expected based on the pre-pandemic trend. The higher-than-expected call volumes were mainly attributable to higher-than-expected calls from non-suicidal and male callers. Calls in which COVID-19 was mentioned (13.2%) were more likely to be from male and first-time callers, occur outside 12 am–6 am, last less than 5 min, and were less likely to be from callers who had previous suicide attempts, recent suicidal ideation or suicide plans or actions than COVID-19 unrelated calls. Callers who made COVID-19 related calls were more likely to request information than other callers. Crisis helplines should strategically adapt to the increased need and callers' specific concerns related to the outbreak. [ABSTRACT FROM AUTHOR]

Pteris sect. Hypsopodium (Pteridaceae) was reported to contain about nine species. Here we describe two new species based on morphological and molecular evidence, namely Pteris faba Y.S.Chao sp. nov. from Papua New Guinea and the Philippines, and Pteris rubella Y.S.Chao & C.W.Chen sp. nov. from the Solomon Islands. We provide type information, voucher specimens used, distribution, details of habitats and photographs showing diagnostic characters for both species. With the two new species recognised in this study, and three other species newly resolved as members of Pteris section Hypsopodium (Pteris mertensioides, P. polylepis, and P. quinquepartita) the number of species in section Hypsopodium increases to 14, with most species distributed in Asia and Oceania. Pteris section Hypsopodium can be distinguished from other sections by having bipinnate laminae in combination with red-brown rachises. [ABSTRACT FROM AUTHOR]

Objective: We investigated recent trends in youth suicide and their associations with societal and psychological factors in Taiwan. Methods: Suicide data (1971–2019) for 10–24 year olds were extracted from Taiwan's national cause-of-death data files. We investigated changes in trends in youth suicide rates, societal factors (gross domestic product per capita, Gini index, overall and youth unemployment rates, divorce rates in people aged 40–59 years [i.e. the age of most 15–24 year olds' parents] and Internet use rates) and psychological distress indicators (youth self-harm rates and the prevalence of worry-related insomnia, and suicide ideation, plan and attempt) using joinpoint regression and graphic examinations. The associations of these factors with youth suicide rates were examined using Prais–Winsten regression. Results: Suicide rates in Taiwan's 10–24 year olds changed from a downward trend (2005–2014) to an upward trend in 2014 and increased 11.5% (95% confidence interval = [5.2%, 18.1%]) annually between 2014 and 2019. There was also an upturn in divorce rates among females aged 40–59 years in 2014 and self-harm rates among 15- to 24-year-old youth in 2013. The prevalence of self-reported insomnia and suicide ideation, plan and attempt in youth started to increase from 2013 to 2016. In the regression analysis, Internet use, female divorce rates and youth self-harm rates were positively associated with youth suicide rates. Conclusion: Suicide rates and the prevalence of suicidal behaviors began to increase in Taiwanese youth in the 2010s. These increases may be associated with concurrent rises in parental divorce rates, Internet use and poor sleep. Further research is needed to examine the mechanisms underlying recent increases in youth suicide risk. [ABSTRACT FROM AUTHOR]

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic linear keratotic papules and plaques along the lines of Blaschko and predominantly affects the extremities. This disease has recently been linked to somatic mutations within the GJB2 locus. Only four GJB2 mutations have been previously documented for PEODDN, and the underlying genetic basis remains inconclusive. Herein, we report an 18‐year‐old female with a hyperkeratotic plaque on the dorsa of the proximal interphalangeal joint of her right ring finger, as well as multiple small hyperkeratotic papules linearly distributed on the lateral sides of her fingers occurring since birth. Histopathological results revealed prominent parakeratotic cornoid lamella‐like tiers at the opening of the eccrine secretory ducts. Whole‐exome sequencing of the affected skin tissue revealed a heterozygous germline mutation and a postzygotic somatic mutation in GJB2. In summary, this study presents a case of PEODDN with compound heterozygous mutations in GJB2, which broadens the genetic spectrum of this disease entity and implies a possible role for second‐hit mutations in the pathogenesis of PEODDN. [ABSTRACT FROM AUTHOR]