Rank one HCIZ at high temperature: interpolating between classical and free convolutions

We study the rank one Harish-Chandra-Itzykson-Zuber integral in the limit where \frac{N\beta}{2} \to cNβ2→c, called the high-temperature regime and show that it can be used to construct a promising one-parameter interpolation family, with parameter c between the classical and the free convolution. This c-convolution has a simple interpretation in terms of another associated family of distribution indexed by c, called the Markov-Krein transform: the c-convolution of two distributions corresponds to the classical convolution of their Markov-Krein transforms. We derive first cumulant-moment relations, a central limit theorem, a Poisson limit theorem and show several numerical examples of c-convoluted distributions.

The FORCE Panel: An All-in-One SNP Marker Set for Confirming Investigative Genetic Genealogy Leads and for General Forensic Applications

The FORensic Capture Enrichment (FORCE) panel is an all-in-one SNP panel for forensic applications. This panel of 5422 markers encompasses common, forensically relevant SNPs (identity, ancestry, phenotype, X- and Y-chromosomal SNPs), a novel set of 3931 autosomal SNPs for extended kinship analysis, and no clinically relevant/disease markers. The FORCE panel was developed as a custom hybridization capture assay utilizing ~20,000 baits to target the selected SNPs. Five non-probative, previously identified World War II (WWII) cases were used to assess the kinship panel. Each case included one bone sample and associated family reference DNA samples. Additionally, seven reference quality samples, two 200-year-old bone samples, and four control DNAs were processed for kit performance and concordance assessments. SNP recovery after capture resulted in a mean of ~99% SNPs exceeding 10X coverage for reference and control samples, and 44.4% SNPs for bone samples. The WWII case results showed that the FORCE panel could predict first to fifth degree relationships with strong statistical support (likelihood ratios over 10,000 and posterior probabilities over 99.99%). To conclude, SNPs will be important for further advances in forensic DNA analysis. The FORCE panel shows promising results and demonstrates the utility of a 5000 SNP panel for forensic applications.

The FORCE panel: An all-in-one SNP marker set for confirming investigative genetic genealogy leads and for general forensic applications

The FORensic Capture Enrichment (FORCE) panel is an all-in-one SNP panel for forensic applications. This panel of 5,422 markers encompasses common, forensically relevant SNPs (identity, ancestry, phenotype, X- and Y-chromosomal SNPs), a novel set of 3,931 autosomal SNPs for extended kinship analysis, and no clinically rele-vant/disease markers. The FORCE panel was developed as a custom hybridization capture assay utilizing ~20,000 baits to target the selected SNPs. Five non-probative, previously identified World War II (WWII) cases were used to assess the kinship panel. Each case included one bone sample and associated family reference DNA samples. Additionally, seven reference quality samples, two 200-year-old bone samples, and four control DNAs were processed for kit performance and concordance assessments. SNP recovery after capture resulted in a mean of ~99% SNPs exceeding 10X coverage for reference and control samples, and 44.4% SNPs for bone samples. The WWII case results showed that the FORCE panel could predict 1st to 5th degree relationships with strong statisti-cal support (likelihood ratios over 10,000 and posterior probabilities over 99.99%). To conclude, SNPs will be important for further advances in forensic DNA analysis. The FORCE panel shows promising results and demonstrates the utility of a 5,000 SNP panel for forensic applications.

Differential expression of thymocyte selection associated family member 2 in human epithelial ovarian cancer.

Epithelial ovarian cancer (EOC) is the most lethal gynecologic cancer (1). We performed discovery of genes associated with epithelial ovarian cancer and of the high-grade serous ovarian cancer (HGSC) subtype, using published microarray data (2, 3) to compare global gene expression profiles of normal ovary or fallopian tube with that of primary tumors from women diagnosed with epithelial ovarian cancer or HGSC. We identified the gene encoding thymocyte selection associated family member 2, THEMIS2, as among the genes whose expression was most different in epithelial ovarian cancer as compared to the normal fallopian tube. THEMIS2 expression was significantly higher in high-grade serous ovarian tumors relative to normal fallopian tube. THEMIS2 expression correlated with overall survival in patients with ovarian cancer. These data indicate that expression of THEMIS2 is perturbed in epithelial ovarian cancers broadly and in ovarian cancers of the HGSC subtype. THEMIS2 may be relevant to pathways underlying ovarian cancer initiation (transformation) or progression.

Retention in HIV Care among Children Aged 0-14 Years and the Associated Family and Caregiver Factors in Embu County, Kenya

Background: Retention of children in HIV care is influenced by a number of factors, among them family and caregiver factors. Objective: To determine the family and caregiver factors associated with retention in care. Methods: We conducted a cross sectional study in level 4 and 5 hospitals in Embu county. Data were collected through interviews using a predesigned questionnaire. Descriptive and inferential data analysis was performed. Results: We enrolled 238 participants between January and April 2018, comprising 143 males (50.5%) and 140 females (49.5%). The median age of the participants was 12 years (IQR 5). Two thirds of the minors were in primary school (192, 67.8%). More of the children’s mothers were HIV positive compared to the fathers (257 vs 99) though a greater number of the fathers had an unknown HIV status compared to the mothers (138 vs 21). Most minors (241, 85.2%) were retained in care throughout having never missed an appointment. The number of siblings alive (aOR 0.72, 95% CI: 0.56, 0.92), siblings with HIV (aOR 0.26, 95% CI: 0.10, 0.68), a HIV positive caregiver (aOR 5.48, 95% CI: 2.44, 12.97), stigma (aOR 0.35, 95% CI: 0.15, 0.77), work duties of the caregiver (aOR 0.28, 95% CI 0.13, 0.58) and denial of HIV status by the caregiver (aOR 0.10, 95% CI 0.02, 0.47) were all associated with retention in HIV care. Conclusion: A HIV positive caregiver was most likely to ensure a child is retained in care. Stigma and denial of HIV status still hinder retention. Key words: Retention, HIV, children, caregiver.

210 Prognosis of Breast Cancer in Very Young Age (Less Than 30 Years)

Background Breast cancer diagnosed at younger age has aggressive biology being triple negative and high grade and associated with poor prognosis. Method Retrospectively data of 121 patients age 30 years or younger registered during the year 2008 was reviewed. Demographics studied were age at diagnosis, gender, pregnancy, or lactation associated, family history, histopathological diagnosis, stage of the disease, receptors, type of treatment, response, local recurrence, distant relapse, survival. Results One patient was male. Age range 20 -30 years, single patient had bilateral involvement. half 50.4%(n = 61) patients had locally advanced disease at presentation. Pregnancy/ lactation associated breast cancer was seen in 29.8%(n = 36). Most common stage was stage III (52.1%) & stage II (33.9%). IDC was the most common histology 94.2% (n = 114) Triple negative was most common molecular subtype present in 46.3%(56). After 5 years follow up, local recurrence was observed in 12.4%(n = 15), cancer related deaths were 42.1%(n = 51). Conclusions Breast cancer in very young has very aggressive tumor biology, needs aggressive treatment with surgery, chemotherapy, radiation therapy and hormonal therapy, furthermore there is need to identify possible environmental factors which may contribute in the rising incidence in this age group.

Computed Tomographic Diagnosis of Intracranial Granulomatous Lesions and Clinical Correlation

Background: The evaluation of intracranial granulomatous lesions with emphasis particularly on tuberculoma and neurocysticercosis. Intracranial granulomatous lesions especially tuberculosis and neurocysticercosis are potentially lethal diseases and therefore prompt diagnosis and treatment are imperative. Cysticercosis of the brain is a disease entity that is a easily demonstrable by CT and is confined to the endemic areas in majority of cases. Aim: To identify and the role of computed tomography (CT) in diagnosing intracranial granulomatous lesions and to correlate the findings with clinical health care. Materials and Methods: This study was done at Ganesh Shankar Vidyarthi Medical (GSVM) College, Kanpur, Uttar Pradesh, India during the period 2002 to 2003. The patients admitted with seizures were included after considering the exclusion of metabolic causes and infective causes. 50 cases of documented antecedent history suggestive of raised intracranial tension and seizure (focal or generalized) were evaluated and referred for CT scanning from out patients department and in patients department in Lala Lajpat Rai (LLR) and associated hospitals and GSVM College, Kanpur, India. Results: We prospectively noted in our study that more than half of the patients with chronic granulomatous lesions presented with raised intracranial tensions. Seizure was one of the most commonest presenting complaint in patients with neurocysticercosis diagnosis. Presumptive diagnosis of tuberculoma and neurocysticercosisis was based on clinical and other ancillary criteria. Associated family history and extracerebral tuberculosis are the important criteria for presumptive diagnosis of tuberculoma. Solitary lesions were more frequent CT finding in both tuberculoma and neurocysticercosis. Majority of tuberculomas and neurocysticercosis observed were supratentorial in location, regardless of their clinical presentation. Lesions were isodense or hyperdense on plain CT scan and showed peripheral enhancement with intravenous contrast injection. The lobulated masses represent coalesced small disc and rings forming a large tuberculoma. Conclusion: In our study we have tried to evaluate intracranial granulomatous lesions with emphasis particularly on tuberculoma and neurocysticercosis.

Association between prostate cancer characteristics and BRCA1/2-associated family cancer history in a Japanese cohort

In addition to breast, ovarian, and pancreatic cancers, BRCA1/2 genes have been associated with prostate cancer (PC). However, the role of BRCA1/2-associated family cancer history (FCH) has remained unexplored in treating these four cancer types as a homogenous pathophysiological group. We aimed to clarify the relationship between BRCA1/2-associated FCH and PC, and to assess its relationship with cancer aggressiveness. Patient characteristics, positive family history of BRCA1/2-associated cancer, and cancer characteristics (Gleason score, prostate specific antigen level at diagnosis, and clinical tumor stage) were analyzed. Among the 1,985 eligible candidates, 473 (23.83%) patients had adequately detailed FCH, obtained via questionnaire, and were thus included in the study. BRCA1/2-associated FCH was observed in 135 (28.54%) patients with PC (68, 14.38%), breast (44, 9.30%), pancreatic (31, 6.55%), or ovarian (8, 1.69%) cancers. BRCA1/2-associated FCH was not significantly associated with high Gleason score (≥ 8). Patients with BRCA-associated FCH were less likely to present with high clinical tumor stage, and no difference was observed in prostate-specific antigen level, presence of metastatic lesions at diagnosis, or likelihood of high-risk classification between patients with and without BRCA-associated FCH. This is the first report of BRCA1/2-associated FCH in Japanese men, indicating that family history did not affect the severity or aggressiveness of PC.