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Elevated expression of the proinflammatory cytokine interleukin 1β (IL-1β) has been observed in expressed prostatic secretions of patients with chronic prostatitis/chronic pelvic pain syndrome, and genetic polymorphisms associated with the IL1B gene are linked to increased risk for aggressive prostate cancer.To study the role of IL-1β expression in prostate inflammation, we examined IL1B expression in human prostatic proliferative inflammatory atrophy (PIA) lesions and developed a tetracycline-regulated human IL1B transgene in the mouse prostate.Here, we demonstrate that IL1B expression is a common finding in human PIA lesions, which harbored focal IL1B expression in epithelial and stromal compartments. Human IL1B expression in the mouse prostate elicited acute and chronic inflammation. Penetrance and expressivity were variable and tunable by altering transgene dosage and the presence of an exogenous inducible marker antigen (green fluorescent protein). Inflammation was characterized by infiltration of CD4These data implicate IL-1β in human prostate pathology and this model provides a versatile platform to interrogate molecular mechanisms of inflammation-associated prostate pathologies associated with episodic or sustained IL-1β expression.

In a 16-year-old girl with intellectual disability, irregular teeth, slight body asymmetry, and striated skin pigmentation, highly skewed X-inactivation increased the likelihood of an X-linked cause of her condition. Among these, prominent supraorbital ridges and hearing loss suggested a filaminopathy, but no filamin A mutation was found. The correct diagnosis, Borjeson-Forssman-Lehmann syndrome (BFLS, MIM#301900), was first made when a copy number array identified a de novo 15-kb deletion of the terminal 3 exons of the PHF6 gene. In retrospect, her phenotype resembled that of males with BFLS. Such deletions of PHF6 have not been reported previously. This might be because PHF6 mutations are rarely looked for in females since classical BFLS so far has been thought to be a male-specific syndrome, and large PHF6 deletions might be incompatible with male fetal survival. If this is the case, sporadic BFLS could be more frequent in females than in males.

In a 16-year-old girl with intellectual disability, irregular teeth, slight body asymmetry, and striated skin pigmentation, highly skewed X-inactivation increased the likelihood of an X-linked cause of her condition. Among these, prominent supraorbital ridges and hearing loss suggested a filaminopathy, but no filamin A mutation was found. The correct diagnosis, Borjeson-Forssman-Lehmann syndrome (BFLS, MIM#301900), was first made when a copy number array identified a de novo 15-kb deletion of the terminal 3 exons of the PHF6 gene. In retrospect, her phenotype resembled that of males with BFLS. Such deletions of PHF6 have not been reported previously. This might be because PHF6 mutations are rarely looked for in females since classical BFLS so far has been thought to be a male-specific syndrome, and large PHF6 deletions might be incompatible with male fetal survival. If this is the case, sporadic BFLS could be more frequent in females than in males.

Treatment of human alpha-linolenic acid deficiency (ALAD) with ethyl linolenate is reported. The patient's scaly dermatitis nearly disappeared after 5-d supplementation with 0.1 mL ethyl linolenate. Pretreatment content of various n-3 fatty acids in RBC was 0-15% of healthy controls. After 14 d of supplementation, cholesterol and triglycerides were reduced by 70% of pretreatment values, 22:5n-3 and 22:6n-3 increased three- to fourfold while 18:3n-3 and 20:5n-3 remained low, indicating a rapid elongation and desaturation of 18:3n-3 in ALAD. Urinary excretion of PGI2-M was approximately 10 times higher than in healthy control subjects, while PGI3-M excretion was low. Linolenate supplementation increased PGI2-M excretion twofold, while PGI3-M remained near detection limit. Platelet capacity to synthesize TXA2, and urinary excretion of TXB2+3-M were nearly unaffected by supplementation. The results confirm that the minimal daily requirement of alpha-linolenic acid is 0.2-0.3% of total energy.

Alpha-linolenic acid deficiency (ALAD) is described in five adults receiving long-term gastric tube feeding with a commercially available powdered formula mixed with water and/or skimmed milk. Three patients receiving the same powder mixed with whole milk showed no signs of essential fatty acid deficiency (EFAD). The patients showed scaly dermatitis and skin atrophy. In four patients, supplementing with cod liver oil and soya oil for 4 weeks normalized n-3 acids in plasma and red cells, while n-6 acids remained unchanged or decreased slightly. At the same time, skin changes were normalized. In the fifth patient, supplementing with ethyl linolenate started to normalize skin changes within 5 days, and after 2 weeks had increased the red cell concentration of 22:6n-3 threefold. Simultaneously, 20:4n-6 increased twofold, to above control level. Minimal daily requirement of alpha-linolenic acid and of long-chain n-3 acids is estimated to be 0.2% to 0.4% and 0.1% to 0.2% of calories, respectively.