Cell-type deconvolution of bulk-blood RNA-seq reveals biological insights into neuropsychiatric disorders.

Genome-wide association studies (GWASs) have uncovered susceptibility loci associated with psychiatric disorders such as bipolar disorder (BP) and schizophrenia (SCZ). However, most of these loci are in non-coding regions of the genome, and the causal mechanisms of the link between genetic variation and disease risk is unknown. Expression quantitative trait locus (eQTL) analysis of bulk tissue is a common approach used for deciphering underlying mechanisms, although this can obscure cell-type-specific signals and thus mask trait-relevant mechanisms.

Cell type deconvolution of bulk blood RNA-Seq to reveal biological insights of neuropsychiatric disorders.

Genome-wide association studies (GWAS) have uncovered susceptibility loci associated with psychiatric disorders like bipolar disorder (BP) and schizophrenia (SCZ). However, most of these loci are in non-coding regions of the genome with unknown causal mechanisms of the link between genetic variation and disease risk. Expression quantitative trait loci (eQTL) analysis of bulk tissue is a common approach to decipher underlying mechanisms, though this can obscure cell-type specific signals thus masking trait-relevant mechanisms.

Fitness effects of CRISPR endonucleases in populations.

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 provides a highly efficient and flexible genome editing technology with numerous potential applications ranging from gene therapy to population control. Some proposed applications involve the integration of CRISPR/Cas9 endonucleases into an organism's genome, which raises questions about potentially harmful effects to the transgenic individuals. One example for which this is particularly relevant are CRISPR-based gene drives conceived for the genetic alteration of entire populations.

Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification.

Although the cohort-level accuracy of polygenic risk scores (PRSs)-estimates of genetic value at the individual level-has been widely assessed, uncertainty in PRSs remains underexplored. In the present study, we show that Bayesian PRS methods can estimate the variance of an individual's PRS and can yield well-calibrated credible intervals via posterior sampling. For 13 real traits in the UK Biobank (n = 291,273 unrelated 'white British'), we observe large variances in individual PRS estimates which impact interpretation of PRS-based stratification; averaging across traits, only 0.

[Endometrial carcinoma in patients with family history of neoplasms].

Objectives: The aim of the study was multifactorial clinical analysis of patients with neoplasmatic family history operated because of endometrial carcinoma in 2nd Dept. of Obstetrics and Gynecology Medical University of Gdańsk between 1983-1997.

Material And Methods: The group of 117 women who answered inquiry forms was analysed.

[Clinical analysis of patients operated for adenocarcinoma and adenosquamous carcinoma of uterine cervix].

Objectives: The aim of our study was clinical analysis of patients with operated adenocarcinoma and adenosquamous carcinoma of uterine cervix.

Study Design: The mean age, number of pregnancies and labours, the incidence of adenocarcinoma and carcinoma adenosquamous in the stage Ib and IIa, and also in 2 following decades (1972-81 and 1982-91), the influence of positive lymph nodes on the survival have been estimated.

Materials And Methods: Between 1972 and 1991 at the 2nd Department of Obstetrics and Gynecology, Medical University of Gdańsk, 499 radical hysterectomies were performed in the patients with cervical cancer stage Ia, Ib and IIa.

[Clinical analysis of patients operated with squamous cell carcinoma of the uterine cervix].

Objectives: The aim of our study was clinical analysis of patients operated with squamous cell carcinoma of the uterine cervix.

Materials And Methods: Between 1972 and 1991 at the 2nd Department of Obstetrics and Gynecology Medical University of Gdańsk 687 total hysterectomies in Wertheim-Meigs method were performed in the patients with, various clinical stages cervical carcinoma. The clinical analysis has been done in 499 patients with diagnosed invasive cervical cancer stages Ia2, Ib and IIa.

[A clinical analysis of fetoplacental blood flow in prognosis of fetal emergency in pregnancies complicated by hypertension].

Design: The aim of our study was a clinical analysis of fetoplacental blood flow in prevision of fetal hypoxia in pregnancy complicated by a hypertension.

Materials And Methods: Between 1995-1997 105 pregnant women delivered in 2nd Dept. Of Gynecology and Obstetrics Medical University of Gdansk.

[A long-time presence of a foreign body in an episiotomy scar].

Objectives: The object of our study was a long-time presence of a foreign body in an episiotomy scar.

Study Design: A case of 46-year old woman with a palpable tumour in a perineal region is described.

Results: This false tumour was caused by a surgical needle which was left in the body of the patient 19 years ago during the episiorrhaphy after the last labour.

[A complementary treatment of patients with endometrial carcinoma after surgical treatment].

Objectives: The different methods of a complementary treatment used in a group of 117 patients, aged 41 to 83, after surgical treatment because of endometrial cancer in 2nd Department of Obstetrics and Gynaecology Medical University of Gdańsk between 1983-1997, were analysed.

Results: The hysterectomy with removal of uterine adnexa was performed in all cases, in 18 patients supplemented by pelvical lymphadenectomy. The median age of women was 58.

[A clinical analysis of risk factors in women operated because of endometrial cancer].

Objectives: The aim of the study was a clinical analysis of risk factors of endometrial cancer such as diabetes mellitus, hypertension, obesitas, using oral contraceptives, smoking cigarettes and neoplasm diseases in a family.

Material And Methods: Between 1983-1997, 336 patients was operated in 2nd Department of Obstetrics and Gynaecology Medical University of Gdańsk because of endometrial cancer. 117 women, who answered inquiry form questions was selected.