Psychic suffering and depression in black children and adolescents: systematic review and meta-analysis.

Depression is a common disorder in the population, but some people are more vulnerable to this condition. Groups at higher risk of developing psychic suffering include black children and adolescents living in vulnerable socioeconomic conditions. This study aimed to analyze race and life conditions as determinants of depression in children and adolescents. This was a systematic review with meta-analysis. The study sources were MEDLINE Ovid, Web of Science, Latin American and Caribbean Health Science Information database, Science Citation Index-Expanded, PubMed, EMBASE, and Scopus. The following keywords were used: Child, Adolescent, Stress, Psychological, Depression, and African Continental Ancestry Group, using the logical operators AND and OR. The general criteria were observational studies published in the last 20 years. Language was not restricted to avoid possible bias in the selection of articles. Studies with a high risk of bias were excluded. General analysis was conducted with RStudio 3.0 software using odds ratio analysis with a 95% confidence interval and 0.05 significance level. We firstly found 654 studies, of which 18 met the criteria and were included in this review. Race and life conditions were determinants of depression in children and adolescents, with a negative impact for the black population.

Psychic suffering and depression in black children and adolescents: systematic review and meta-analysis

Depression is a common disorder in the population, but some people are more vulnerable to this condition. Groups at higher risk of developing psychic suffering include black children and adolescents living in vulnerable socioeconomic conditions. This study aimed to analyze race and life conditions as determinants of depression in children and adolescents. This was a systematic review with meta-analysis. The study sources were MEDLINE Ovid, Web of Science, Latin American and Caribbean Health Science Information database, Science Citation Index-Expanded, PubMed, EMBASE, and Scopus. The following keywords were used: Child, Adolescent, Stress, Psychological, Depression, and African Continental Ancestry Group, using the logical operators AND and OR. The general criteria were observational studies published in the last 20 years. Language was not restricted to avoid possible bias in the selection of articles. Studies with a high risk of bias were excluded. General analysis was conducted with RStudio 3.0 software using odds ratio analysis with a 95% confidence interval and 0.05 significance level. We firstly found 654 studies, of which 18 met the criteria and were included in this review. Race and life conditions were determinants of depression in children and adolescents, with a negative impact for the black population.

Y chromosome microdeletions and varicocele as aetiological factors of male infertility: A cross-sectional study.

The pathogenic mechanisms by which varicocele disrupt spermatogenesis are not clearly understood. Over 30% of male infertility cases resulting from spermatogenic problems are associated with genetic abnormalities, and Y chromosome microdeletions are the second most frequent genetic cause. Here, we aimed to evaluate the frequency of Y chromosome microdeletion in infertile men with varicocele. A cross-sectional study comprising 51 infertile men with varicocele presenting spermatogenesis failures was performed. Y chromosome microdeletion research was made using polymerase chain reaction. Of the 51 men with infertility and varicocele, 35.3% (18/51) had nonobstructive azoospermia and 64.7% had severe oligozoospermia. Y chromosome microdeletion was found in two cases (3.9%): one patient had nonobstructive azoospermia and complete microdeletion of the AZFb and AZFc regions, and another patient had severe oligozoospermia and complete microdeletion of the AZFc region. Although in recent years, a genetic aetiology related to Y chromosome microdeletions has become a major cause of infertility in males with spermatogenesis failures, in this study, the varicocele was the clinical cause of seminal abnormalities that could lead to infertility, suggesting that both varicocele and Y chromosome microdeletion aetiologies can present, alone or combined, as factors of male infertility.

AMH: An ovarian reserve biomarker in assisted reproduction.

Ovarian reserve tests provide knowledge of a possible response to controlled ovarian hyperstimulation in patients undergoing assisted reproduction treatment, allowing management and alteration of treatment protocol with the appropriate dose of gonadotrophin. Several parameters have been used as predictors of ovarian response. The basal FSH serum level on the third day of the menstrual cycle seemed to be the best predictor, but with significant intraindividual variability from one cycle to another. Thus, the anti-Müllerian hormone (AMH) emerges as a new ovarian test marker. AMH is produced exclusively in the gonads, by the granulosa cells, and plays an important role in folliculogenesis, acting on the modulation of follicular recruitment in the granulosa cells in order to limit the number of recruited oocytes and to regulate the number of growing follicles and their selection for ovulation. It has been suggested that AMH is strongly associated with oocyte yield after ovarian stimulation and could therefore be capable of predicting the ovarian response and the quality of oocytes and embryos. In this review, we discuss the role of AMH in assisted reproduction outcomes.

Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family.

A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter→q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling.

Promoter -817C>T variant of B lymphocyte stimulator gene (BLyS) and susceptibility to endometriosis-related infertility and idiopathic infertility in Brazilian population.

Many theories have been proposed to explain the development of endometriosis, and recently, autoimmune aetiology has been suggested. Besides, it is well known that endometriosis, especially the advanced disease, may impair fertility. B lymphocyte stimulator (BLyS) is a cytokine produced by macrophages and is necessary for normal B cell development. One of the most studied polymorphisms is the -817C/T in the promoter region of the gene. We aimed to assess the association between endometriosis-related infertility and idiopathic infertility and the BLyS -817C/T polymorphism in a Brazilian population. We performed a case-control study comprising 165 infertile women with endometriosis, 83 with idiopathic infertility and 145 fertile and assessed the association with BLys -817C/T polymorphism. BLyS -817C/T polymorphism was detected using TaqMan PCR. The results were analysed statistically, and a P-value < 0.05 was considered significant. The results disclosed similar genotype and allelic frequencies between endometriosis-related infertility (P = 0.225) and control group, regardless of the disease stage (P = 0.213 and P = 0.462, respectively). However, a statistically significant difference was observed regarding idiopathic infertile group (P = 0.048) compared with controls. Considering the dominant and recessive inheritance models, no significant differences in both endometriosis and idiopathic infertility group were found. The genotype frequencies were in Hardy-Weinberg equilibrium in all studied groups. The results point to a possible association between BLyS -817C/T polymorphism and idiopathic infertility in Brazilian population.

Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature.

Ring chromosome 3 is a rare abnormality with only 10 patients described in the literature. We report a patient with r(3) and ∼6-Mb distal 3p deletion. Single nucleotide polymorphism array, multiplex ligation-dependent probe amplification and fluorescence in situ hybridization techniques revealed that the ring was formed by a break in 3p26.1 and fusion with the subtelomeric region of 3q. The patient presents delayed psychomotor development, growth failure, minor anomalies and other features similar to patients with 3p monosomy. The analysis of 300 metaphase cells using G-banding and fluorescence in situ hybridization with centromeric probe revealed ring instability resulting in cells with secondary aberrations and with ring loss that could also be related to some phenotypic characteristics such as growth delay. This is the first patient with r(3) studied using molecular techniques that determined the exact breakpoints in order to establish a better karyotype-phenotype correlation.

The effect of hormones on endometriosis development.

Endometriosis is a common gynecological condition in which tissue that is histologically similar to the endometrium with glands and/or stroma grows outside the uterine cavity and can lead to pelvic pain, dysmenorrhea and infertility. Many aspects of female reproductive function are strongly influenced by genetic factors and numerous studies have attempted to identify susceptibility genes for disorders affecting female fertility such as endometriosis. The importance of steroid hormones on endometriosis is unquestionable. The disease is most prevalent in women of reproductive age and regresses after menopause and its occurrence before menarche has not been reported. Sex steroids, estrogen and progesterone, are mainly produced in the ovaries and they regulate the growth of endometrial tissue, basically by stimulating and inhibiting cell proliferation, respectively. In addition, estrogen plays an important role in the regulation of cyclic gonadotropin release and in folliculogenesis. Numerous studies have been conducted to demonstrate the interaction of hormone and their receptors with endometriosis with conflict results. Besides, environmental chemicals, known as endocrine disruptors, have the capacity to mimic, block or modulate the endocrine system through the interaction with steroidal receptors. Recently evidences have proposed a putative role for ubiquitous environmental contaminants in the occurrence of endometriosis. Here, we reviewed significant articles regarding the interaction among endometriosis, hormones and genetic polymorphic variants.

Analysis of CTLA4 gene variant in infertile Brazilian women with and without endometriosis.

An autoimmune aetiology has been suggested for endometriosis mostly on the basis of an increased prevalence of autoimmune diseases in affected women. Cytotoxic T lymphocyte antigen (CTLA) 4 gene is recognized as a primary determinant for autoimmunity, since specific polymorphisms have been associated with predisposition to most autoimmune disorders. Thus, the objective of the study was to evaluate CTLA4 polymorphism (+49A/G) in a group of infertile women with and without endometriosis and controls. Case-control study comprising 244 infertile women (177 with endometriosis and 67 without endometriosis) and 172 fertile women as controls. CTLA4 polymorphism was identified by qPCR. The results were analysed statistically and a P-value <0.05 was considered significant. We found relatively similar CTLA4 polymorphisms genotype frequencies in women with and without endometriosis and controls (P=0.158 and P=0.262, respectively). When the patients with minimal/mild endometriosis and moderate/severe endometriosis were studied separately, no difference was also found related to controls (P=0.560 and P=0.11, respectively). The data suggest that the CTLA4 polymorphism is not associated with endometriosis and/or infertility in Brazilian women.

Severe oligospermia associated with a unique balanced reciprocal translocation t(6;12)(q23;q24.3): male infertility related to t(6;12).

The prevalence of chromosome abnormalities is increased in infertile men, the incidence of a chromosomal factor being estimated to be about 8%. We report two brothers, a 38-year-old man with 10 years' primary infertility and severe oligospermia, but otherwise healthy, and a 35-year-old man with primary infertility and a history of mumps during puberty. Semen and karyotype analysis, and investigation of Y-chromosome microdeletions were performed. An apparently unique reciprocal translocation t(6;12)(q23;q24.3) was found in both infertile brothers. Semen analyses showed severe oligospermia. No Y-chromosome microdeletions were found. These two cases support the relationship between both environmental and chromosomal abnormalities, combined or separated, with male infertility. Investigation of genetic alterations in infertile males has to be performed prior to performing any assisted reproduction technique.

Subtelomeric rearrangements and copy number variations in people with intellectual disabilities.

BACKGROUND: The most prevalent type of structural variation in the human genome is represented by copy number variations that can affect transcription levels, sequence, structure and function of genes. METHOD: In the present study, we used the multiplex ligation-dependent probe amplification (MLPA) technique and quantitative PCR for the detection of copy number variation in 132 intellectually disabled male patients with normal karyotypes and negative fragile-X-testing. RESULTS: Ten of these patients (7.6%) showed copy number variation in the subtelomeric regions, including deletions and duplications. DISCUSSION: Duplications of the SECTM1 gene, located at 17q25.3, and of the FLJ22115 gene, located at 20p13, could be associated with phenotype alterations. This study highlights the relevance in the aetiology of intellectual disability of subtelomeric rearrangements that can be screened by MLPA and other molecular techniques.

Ring chromosome instability evaluation in six patients with autosomal rings.

Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyuridine incorporation. Although most cells from all patients showed only one monocentric ring chromosome, ring chromosome loss and secondary aberrations were observed both in 48- and 72-h lymphocyte cultures and in metaphase cells of the different cell generations. We found no clear-cut correlation between ring size and ring instability; we also did not find differences between apparently complete rings and rings with genetic material loss. The cytogenetic findings revealed secondary aberrations in all ring chromosome patients. We concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype.

Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA.

Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene (FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR. Our data revealed that DNA extraction from buccal cells is a useful noninvasive alternative in the screening of the FMR1 mutation among mentally retarded males.

Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA

Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene (FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR. Our data revealed that DNA extraction from buccal cells is a useful noninvasive alternative in the screening of the FMR1 mutation among mentally retarded males.

Colocalization of coilin and nucleolar proteins in Cajal body-like structures of micronucleated PtK2 cells.

Cajal bodies (CB) are ubiquitous nuclear structures involved in the biogenesis of small nuclear ribonucleoproteins and show narrow association with the nucleolus. To identify possible relationships between CB and the nucleolus, the localization of coilin, a marker of CB, and of a set of nucleolar proteins was investigated in cultured PtK2 cells undergoing micronucleation. Nocodazol-induced micronucleated cells were examined by double indirect immunofluorescence with antibodies against coilin, fibrillarin, NOR-90/hUBF, RNA polymerase I, PM/Scl, and To/Th. Cells were imaged on a BioRad 1024-UV confocal system attached to a Zeiss Axiovert 100 microscope. Since PtK2 cells possess only one nucleolus organizer region, micronucleated cells presented only one or two micronuclei containing nucleolus. By confocal microscopy we showed that in most micronuclei lacking a typical nucleolus a variable number of round structures were stained by antibodies against fibrillarin, NOR-90/hUBF protein, and coilin. These bodies were regarded as CB-like structures and were not stained by anti-PM/Scl and anti-To/Th antibodies. Anti-RNA polymerase I antibodies also reacted with CB-like structures in some micronuclei lacking nucleolus. The demonstration that a set of proteins involved in RNA/RNP biogenesis, namely coilin, fibrillarin, NOR-90/hUBF, and RNA polymerase I gather in CB-like structures present in nucleoli-devoid micronuclei may contribute to shed some light into the understanding of CB function.

Colocalization of coilin and nucleolar proteins in Cajal body-like structures of micronucleated PtK2 cells

Cajal bodies (CB) are ubiquitous nuclear structures involved in the biogenesis of small nuclear ribonucleoproteins and show narrow association with the nucleolus. To identify possible relationships between CB and the nucleolus, the localization of coilin, a marker of CB, and of a set of nucleolar proteins was investigated in cultured PtK2 cells undergoing micronucleation. Nocodazol-induced micronucleated cells were examined by double indirect immunofluorescence with antibodies against coilin, fibrillarin, NOR-90/hUBF, RNA polymerase I, PM/Scl, and To/Th. Cells were imaged on a BioRad 1024-UV confocal system attached to a Zeiss Axiovert 100 microscope. Since PtK2 cells possess only one nucleolus organizer region, micronucleated cells presented only one or two micronuclei containing nucleolus. By confocal microscopy we showed that in most micronuclei lacking a typical nucleolus a variable number of round structures were stained by antibodies against fibrillarin, NOR-90/hUBF protein, and coilin. These bodies were regarded as CB-like structures and were not stained by anti-PM/Scl and anti-To/Th antibodies. Anti-RNA polymerase I antibodies also reacted with CB-like structures in some micronuclei lacking nucleolus. The demonstration that a set of proteins involved in RNA/RNP biogenesis, namely coilin, fibrillarin, NOR-90/hUBF, and RNA polymerase I gather in CB-like structures present in nucleoli-devoid micronuclei may contribute to shed some light into the understanding of CB function.