The rate of undetectable genetic causes by Cell-free DNA test in congenital heart defects.

OBJECTIVE: The study aimed to estimate the rate of genetic causes that were undetectable by Cell-free DNA (cfDNA) test in prenatally diagnosed congenital heart defect (CHD) cases based on an assumption that cfDNA would accurately detect common aneuploidies including trisomy 21/18/13/45X, and del22q11.2. METHODS: This study included prenatally diagnosed CHD cases with diagnostic genetic results. The possibility of false-positive/negative results from cfDNA testing was discarded. Thus, cfDNA results would be positive in common aneuploidies or del22q11.2 and negative in normal diagnostic genetic testing results or other genetic conditions. The rate of genetic causes that were undetectable by cfDNA test was estimated for all cases as well as for CHD subgroups. RESULTS: Of 302 cases, 98 (34.8%) had a type of genetic abnormalities, with 67 having common aneuploidies or del22q11.2 and 31 having other genetic conditions. The rate of genetic causes that were undetectable by cfDNA test in CHD cases was 13.2% among those with assumingly negative cfDNA screen results and 10.3% among the entire study population. These rates were similar between CHD subgroups (p > .05). The rate of genetic causes that were undetectable by cfDNA test was higher in the non-isolated cases than in the isolated ones among those with assumingly negative-screen results (20.5% and 9.9%, respectively, p = .025). CONCLUSION: In prenatally diagnosed CDH cases, a significant number of chromosomal abnormalities are still identified after diagnostic testing even if cfDNA screen is negative, and thus it is important to extensively counsel patients with negative cfDNA screen carrying a CHD-affected fetus.

Trends in the Academic Credentials of Matched Dermatology Residency Applicants.

Introduction Research can be used to enhance the competitiveness of an application and is associated with a successful match. However, current reports regarding the publication record among prospective dermatology residents may be inaccurate. We sought to accurately assess the research credentials of matched dermatology residency candidates at the time of application. Methods We performed a bibliometric analysis to identify published articles of 1152 matched dermatology candidates and calculated the h-index of each applicant at the time of application. Details on article type, first authorship, and dermatology-relatedness of articles were collected. Results The median number of publications was two and the median h-index was 0. At the time of residency application, one-quarter of matched dermatology candidates (24%, n=278) possessed no publications. Over time, the median number of publications (R 0.10, p<0.001) and h-index (R 0.07, p=0.014) of matched applicants increased. The proportion of first-authored articles, dermatology-related papers, and each article type remained constant across application cycles (p>0.0500). An additional graduate degree, completion of a research fellowship, and graduation from a non-US medical school were independently associated with greater research credentials (p<0.0500). Conclusions Each year, applicants are publishing more articles and have a greater scholarly impact than in previous application cycles. However, the verified publication volume of matched dermatology applicants is strikingly lower than the values reported in national statistics.

Depression in men receiving androgen deprivation therapy for prostate cancer: a pilot study.

PURPOSE: Prostate cancer is the most common malignancy in men and one of the leading causes of cancer death in men internationally. Treatment for prostate cancer frequently includes androgen deprivation therapy (ADT). Reports of depressive symptoms arising during ADT are emerging. This study examines the prevalence rates and risk factors associated with major depression in this population. METHOD: 45 men with prostate cancer receiving ADT at the MGH Cancer Center were surveyed for depression with the SCID for Axis I disorders for DSM-IV and the Beck Depression Inventory. RESULTS: Major depressive disorder was prevalent in 12.8% of the men with prostate cancer receiving ADT, eight times the national rate of depression in men, 32 times the rate in men over 65 years old. Major depression was not associated with worsening disease, medical response to ADT, receiving chemotherapy, or the type of ADT. Past history of depression was associated with current depression in this population (p<0.000). No first onset cases of depression occurred on ADT in this sample. CONCLUSION: This data suggests a significant rate of major depression in men with prostate cancer receiving ADT and that men with past histories of depression may be at particular risk for recurrence of their depression while undergoing this treatment.