CASE: We report on a 19-year-old who is phenotypically male, with a 46,XX/46,XY mosaicism karyotype, who presented later in life with cyclical abdominal pain that resembled menstrual cramps and unilateral undescended testes.
SUMMARY AND CONCLUSION: He underwent laparoscopic hysterectomy and right salpingo-oophorectomy, resulting in cessation of his symptoms and improved sperm count.
AIMS: This study aims to examine sex-related differences in stroke metrics across Southeast Asia in 2015. Furthermore, relative changes between sexes are compared from 1990 to 2015.
METHODS: Data were sourced from the Global Burden of Disease Study. Incidence and mortality from ischemic and hemorrhagic strokes were explored with the following statistics derived: (1) women-to-men incidence/mortality ratio and (2) relative percentage change in rate.
RESULTS: Women had lower incidence and mortality from stroke compared to men. Notable findings include higher ischemic stroke incidence for women at 30-34 years in high-income countries (women-to-men ratio: 1.3, 95% CI: 0.1, 16.2 in Brunei and 1.3, 95% CI: 0.5, 3.2 in Singapore) and the largest difference between sexes for ischemic stroke mortality in Vietnam and Myanmar across most ages. Within the last 25 years, greater reductions for ischemic stroke metrics were observed among women compared to men. Nevertheless, women below 40 years in some countries showed an increase in ischemic stroke incidence between 0.5% and 11.4%, whereas in men, a decline from -4.2% to -44.2%. Indonesia reported the largest difference between sexes for ischemic stroke mortality; a reduction for women whereas an increase in men. For hemorrhagic stroke, findings were similar: higher incidence among young women in high-income countries and greater reductions for stroke metrics in women than men over the last 25 years.
CONCLUSIONS: Distinct sex-specific differences observed across Southeast Asia should be accounted in future stroke preventive guidelines.
RESULTS: We used a combination of Illumina, Oxford Nanopore, and Hi-C sequencing technologies to assemble a chromosome-length genome of the helmeted honeyeater, comprising 906 scaffolds, with length of 1.1 Gb and scaffold N50 of 63.8 Mb. Annotation comprised 57,181 gene models. Using a pedigree of 257 birds and 53,111 single-nucleotide polymorphisms, we obtained high-density linkage and recombination maps for 25 autosomes and Z chromosome. The total sex-averaged linkage map was 1,347 cM long, with the male map being 6.7% longer than the female map. Recombination maps revealed sexually dimorphic recombination rates (overall higher in males), with average recombination rate of 1.8 cM/Mb. Comparative analyses revealed high synteny of the helmeted honeyeater genome with that of 3 passerine species (e.g., 32 Hi-C scaffolds mapped to 30 zebra finch autosomes and Z chromosome). The genome assembly and linkage map suggest that the helmeted honeyeater exhibits a fission of chromosome 1A into 2 chromosomes relative to zebra finch. PSMC analysis showed a ∼15-fold decline in effective population size to ∼60,000 from mid- to late Pleistocene.
CONCLUSIONS: The annotated chromosome-length genome and high-density linkage map provide rich resources for evolutionary studies and will be fundamental in guiding conservation efforts for the helmeted honeyeater.