Evaluation of changes in prescription medication use after a residential treatment programme for borderline personality disorder.

OBJECTIVE: Residential patients diagnosed with borderline personality disorder were evaluated to determine whether borderline personality disorder-focused psychotherapy reduced prescribing, personality disorder and co-morbid symptom severity. METHOD: Psychotropic prescriptions were measured at admission, discharge and 1 year later in 74 female participants with one or more personality disorder diagnosis and co-morbid mood disorders. Changes in pharmacotherapy were examined in the context of improvements in borderline personality disorder and/or co-morbid disorder symptom severity. Residential treatment included individual and group psychotherapy for borderline personality disorder. The Structured Clinical Interview for DSM-IV was used to confirm the borderline personality disorder diagnosis and associated co-morbid conditions. The Beck Depression Inventory was completed at each time point. RESULTS: A significant reduction in the incidence and severity of self-rated depression as well as clinician assessed personality disorder, including borderline personality disorder, was accompanied by a reduction in prescription of psychoactive medications. CONCLUSIONS: Three to six months of intensive borderline personality disorder-specific psychotherapy showed lasting benefit with regard to symptom severity of personality disorders (borderline personality disorder in particular) as well as depressive symptoms. This improvement corresponded with a reduction in prescriptions for psychoactive medications, which is consistent with current thinking regarding treatment for borderline personality disorder.

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.

Neurofibromatosis type 1 (NF1) is caused by mutations in the tumor suppressor gene NF1. The increased tumor risk in affected individuals is well established, caused by somatic biallelic inactivation of NF1 due to loss of heterozygosity. Pediatric teratoma has not been reported in individuals with NF1 previously. We report a case of congenital teratoma in an infant with a heterozygous maternally inherited pathogenic NF1 mutation (c.[1756_1759delACTA] and p.[Thr586Valfs*18]). We detected a "second hit" in the form of mosaic whole NF1 deletion in the tumor tissue using multiplex ligation-dependent probe amplification, as a proof to support the hypothesis of NF1 involvement in the pathogenesis of teratoma.

Urinary transforming growth factor beta-1 as a marker of renal dysfunction in sickle cell disease.

Renal dysfunction affects 5-18% of patients with sickle cell disease (SCD). To date, no studies have described urinary levels of transforming growth factor ß-1 (TGF-ß1), a marker of fibrosis, and neutrophil gelatinase-associated lipocalin (NGAL), a marker of acute/chronic kidney disease, as biomarkers in identifying patients at risk of developing renal disease in SCD. We hypothesized that SCD subjects will have increased urinary excretion of TGF-ß1 and NGAL compared with healthy controls (CTR). We examined 51 SCD subjects: 42 HbSS, 8 HbSC, and 1 HbSD. Sixteen out of 42 patients with HbSS were on hydroxyurea (HU). Urinary excretion of TGF-ß1 was 26.4 ± 1.5 pg/mgCr in SCD subjects vs 15.0 ± 2.4 pg/mgCr in CTR (p<0.00001). SCD patients with hemoglobin < 9 g/dl had higher urinary TGF-ß1 than patients with milder anemia (p=0.002). Urinary TGF-ß1 trended lower in HbSS patients treated with HU (23.61 ± 2.6 pg/mgCr), vs patients not on HU (27.69 ± 1.8 pg/mgCr; p=0.055). There was no correlation between urinary TGF-ß1 and microalbuminuria or estimated glomerular function. There was no difference in urinary NGAL in SCD patients vs CTR. We suggest that urinary TGF-ß1 may serve as a marker of early renal injury in SCD.