Amaç: Prematür over yetmezliği (POY) 40 yaşından önce gözlenen, 6 ay veya daha uzun süre adet görememe, serum folikül stimüle edici hormon yüksekli- ği ve düşük serum estradiol düzeyi ile tanımlanan bir durumdur. Bu çalışma- da amaç POY tanısı alan olgularda kromozom anomali tipleri ve sıklığı araş- tırmaktır. Gereç ve Yöntem: İdiopatik POY tanısı ile Bezmialem Vakıf Üniversi- te Hastanesi Tıbbi Genetik Anabilim Dalı’na yönlendirilen 65 olgunun karyotip analiz kayıtlarının retrospektif olarak incelenmesiyle yapılmıştır. Bulgular: 65 olgunun 12’sinde (%18,4) kromozom anomalisi saptandı. Tüm olgularda sa- yısal X kromozom anomalisi mevcuttu. En sık saptanan kromozom anomali- si X kromozom mosaismi idi. 2 olgu, FMR1 gen premutasyon taşıyıcısı idi. Ai- lesel POY 8 olguda (%12,3) oranında saptanmıştır. Tartışma: Bu çalışma POY etiyolojisinde X kromozom anomalilerinin önemini vurgulamıştır. POY yöne- timinde sitogenetik incelemenin klinik özelliklere ve yaşa bakılmaksızın ruti- ne girmesi gerekmektedir.
Three young women who developed prematureovarianinsufficiency following quadrivalent human papillomavirus (HPV) vaccination presented to a general practitioner in rural New South Wales, Australia. The unrelated girls were aged 16, 16, and 18 years at diagnosis. Each had received HPV vaccinations prior to the onset ofovarian decline. Vaccinations had been administered in different regions of the state of New South Wales and the 3 girls lived in different towns in that state. Each had been prescribed the oral contraceptive pill to treat menstrual cycle abnormalities prior to investigation and diagnosis. Vaccine research does not present an ovary histology report of tested rats but does present a testicular histology report. Enduring ovarian capacity and duration of function following vaccination is unresearched in preclinical studies, clinical and postlicensure studies. Postmarketing surveillance does not accurately represent diagnoses in adverse event notifications and can neither represent unnotified cases nor compare incident statistics with vaccine course administration rates. The potential significance of a case series of adolescents with idiopathic prematureovarianinsufficiency following HPV vaccination presenting to a general practice warrants further research. Preservation of reproductive health is a primary concern in the recipient target group. Since this group includes all prepubertal and pubertal young women, demonstration of ongoing, uncompromised safety for the ovary is urgently required. This matter needs to be resolved for the purposes of population health and public vaccine confidence.
All significant correlations detected were negatively correlated with gestational age with the exception of Oxalicibacterium (Table 1). Taxonomic families within the phylum Firmicutes correlated with gestational age included: Bacillaceae, Staphylococcaceae, Enter- ococcaceae, Lactobacillaceae, Leuconostocaceae, Clostridiaceae, Peptostreptococcaceae, Veillonellaceae, and Erysipelotrichaceae. At the genus level (Fig. 3C), the strongest correlations were attributed to Enterococcus (p-value 0?007) and Lactobacillus (p-value 0?003) and comprised an average of 8?67% (611?04%) versus 0?41% (61?04%) for Enterococcus and 0?82% (60?91%) versus 0?07% (60?15%) for Lactobacillus in ,33 weeks and .33 weeks, respectively. Among Actinobacteria, Bifidobacterium was significant- ly correlated (p-value 0?016), comprising 5?47% (67?65%) compared to 0?35% (61?11%) of total reads for ,33 and .33 weeks, respectively. Proteobacteria genera that were significantly correlated with gestational age were primarily Enterobacteriaceae and those with the strongest correlations included Enterobacter (p- value 0?002) and Photorhabdus (p-value 0?002) with an average Figure 2. Meconium microbiome is most suggestive of amniotic fluid origin. (A) The average percent relative abundance in meconium samples of this study for genera reported in amniotic fluid, and the oral and vaginal cavities of pregnant women 6,7,27 are displayed by the Venn
Prematureovarian failure (POF), also known as prematureovarianinsufficiency (POI), typi- cally is defined by elevated serum FSH levels prior to the age of 40 years . Approximately 1% ofwomen are affected. The disorder is heterogeneous, causation including chromosomal abnormalities and single gene mutations, as well as autoimmune, metabolic, infectious and iat- rogenic factors . Evidence for genetic factors has been provided by population and candidate gene studies. Approximately 10 − 15% of cases have an affected first or second degree relative , although proven genes with functional confirmation exist only for FMR1, NR5A1, BMP15, NOBOX , FIGLA, PGRMC1 and GDF9 [3–10]. Genome wide association studies (GWAS) have revealed multiple loci potentially associated with POF in Chinese, Korean, and Dutch [11–13]. However, in each it was difficult to implicate specific novel genes, and the positive findings were not always replicated. Recently, some causative perturbation has been found in POF asso- ciated with somatic anomalies, such as Perrault syndrome and blepharophimosis-epicanthus syndrome type 1 (BPES1), using whole genome or exome sequencing [14–16]. However, low prevalence and impaired fecundity result in limited pedigrees of POF without associated somatic anomalies (non-syndromic), and whole exome sequencing has not yet been conducted in non-syndromic POF kindreds having more than one affected member until the recent report by Wang, in which compound heterozygous mutation in the HFM1 gene were identified .
The aim of the present study was to assess the prevalence of osteoporosis in a sample of 32 patients with spontaneous primary ovarianinsufficiency (POI) in comparison to reference groups of 25 pre- and 55 postmenopausal women. Hip (lumbar) and spinal bone mineral density (BMD) measurements were performed by dual-energy X-ray absorptiometry in the three groups. The median age of POI patients at the time of diagnosis was 35 years (interquartile range: 27-37 years). The mean ± SD age of postmenopausal reference women (52.16 ± 3.65 years) was higher than that of POI (46.28 ± 10.38 years) and premenopausal women (43.96 ± 7.08; P = 0.001) at the time of BMD measurement. Twenty-seven (84.4%) POI women were receiving hormone replacement therapy (HRT) at the time of the study. In the postmenopausal reference group, 30.4% were current users of HRT. Lumbar BMD was significantly lower in the POI group (1.050 ± 0.17 g/cm 2 ) compared to the age-matched premenopausal refer- ence group (1.136 ± 0.12 g/cm 2 ; P = 0.040). Moreover, 22 (68.7%) POI women had low bone density (osteopenia/osteoporosis by World Health Organization criteria) versus 47.3% of the postmenopausal reference group (P = 0.042). In conclusion, the present data indicate that BMD is significantly lower in patients with POI than in age-matched premenopausal women. Also, the prevalence of osteopenia/osteoporosis is higher in POI women than in women after natural menopause. Early medical interventions are necessary to ensure that womenwith POI will maintain their bone mass.
Despite the increasing understanding of female reproduction, the molecular diagnosis of primary ovarian insuiciency (POI) is seldom obtained. he RNA-binding protein NANOS3 poses as an interesting candidate gene for POI since members of the Nanos family have an evolutionarily conserved function in germ cell development and maintenance by repressing apoptosis. We performed mutational analysisof NANOS3 in a cohort of 85 Brazilian womenwith familial or isolated POI, presenting with primary or secondary amenorrhea, and in ethnically-matched control women. A homozygous p.Glu120Lys mutation in NANOS3 was identiied in two sisters with primary amenorrhea. he substituted amino acid is located within the second C2HC motif in the conserved zinc inger domain of NANOS3 and in silico molecular modelling suggests destabilization of protein-RNA interaction. In vitro analyses of apoptosis through low cytometry and confocal microscopy show that NANOS3 capacity to prevent apoptosis was impaired by this mutation. he identiication of an inactivating missense mutation in NANOS3 suggests a mechanism for POI involving increased primordial germ cells (PGCs) apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology.
The loss-of-function mutation of the FMR1 gene due to expansion of the 5’ UTR CGG repeat causes the fragile X syndrome, the most frequent form of inherited mental retardation. On the other hand, the FMR1 premutation, which is transcriptionally active and produces the protein, confers an increased risk for prematureovarian failure (POF) to carrier females. Among 41 unrelated Brazilian womenwith idiopathic POF, we found three carriers of premutations (CGG expansionse ³ 59 repeats) and two carriers of high-intermediate alleles (50-55 repeats). Two premutations and two intermediate alleles were detected among the 16 familial POF cases, and one premutated woman, among the 25 sporadic cases. The premutation frequency among the familial cases (12.5%) differed significantly from that found in a control group of 96 unrelated Brazilian women aged ³ 47 years, who had not experience POF and in which no premutations or high-intermediate alleles were detected. In the search for factors influencing the probability of a premutation carrier presenting POF, another 20 unrelated premutated womenwith POF, from fragile X families, were included in the study. The analysisof the FMR1-linked loci DXS548 and FRAXAC1 did not indicate any association of a particular haplotype with the occurrence of POF. An effect of X-inactivation skewing was not apparent in blood cells, and POF-associated premutations showed a wide range of repeat sizes, from 59, the smallest known to ex- pand to full mutations upon transmission to offspring, to approximately 200.
Our study has several significant strengths: the study was population-based, the participation rate and follow-up rates were high, and follow-up surveys were conducted biennially to ascertain outcomes and changes in chronic disease morbidity. We were also able to adjust for a wide range of potential confounders. We excluded womenwith hysterectomy or hysterectomy with unilateral ovariectomy from the current analysis because not all womenwith these surgeries have lower estrogen levels than other womenwith POF [40,41]. However, some limitations of this study must be considered. Since POF was identified based on self- reported age at menopause, it may therefore be subject to recall bias. Gonadotropin levels (e.g., levels of follicle-stimulating hormone) were not measured in this study to confirm POF. Therefore, we cannot exclude the possibility that some POF is amenorrhea caused by diseases or conditions such as hypotha- lamic/pituitary disease, excessive exercise or dieting, androgen excess, and insulin resistance. Although, excessive exercise or dieting is rare in our study population. The relatively small sample size available for the stratified analyses also prevented us from
Introduction: Chromosome abnormalities contribute to about 10% of cases ofprematureovarianinsufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim was to describe the clinical characteristics, cytogenetic and FMR1 testing of a Portuguese population withprematureovarianinsufficiency.
Objective: To verify the incidence of the G679A mutation in exon 2 of the gene inhibin alpha (INHA), in womenwith secondary amenorrhea and diagnosis ofprematureovarianinsufficiency, and in controls. Methods: A 5mL sample of peripheral blood was collected from all study participants in an EDTA tube and was used for DNA extraction. For the patient group, 5mL of blood were also collected in a tube containing heparin for karyotype, and 5mL were collected in a dry tube for follicle stimulant hormone dosage. All patient and control samples were initially submitted to analysisof the G679A variant in exon 2 of the INHA gene by PCR-RFLP technique. Samples from patients withprematureovarianinsufficiency after PCR-RFLP were submitted to Sanger sequencing of the encoding exons 2 and 3. Sequencing was performed on ABI 3500 GeneticAnalyzer equipment and the results were evaluated by SeqA and Variant Reporter software. Results: Samples of 70 womenwithprematureovarianinsufficiency and 97 fertile controls were evaluated. The G769A variant was found in only one patient in the PrematureOvarianInsufficiency Group and in no control, and it appears to be rare in Brazilian patients withprematureovarianinsufficiency. This polymorphism was previously associated to prematureovarianinsufficiency in several populations worldwide. Conclusion: There is genetic heterogeneity regarding the INHA gene in different populations, and among the causes ofprematureovarianinsufficiency.
Different mechanisms have been proposed to explain the origin, differentiation, and maintenance of B chromosomes in different organisms (Jones & Rees, 1982). However, the existence of entirely heterochromatic B chromosomes seems to characterize the heterochromatinization process as a very common event, frequently found in most of the cases reported (Venere et al., 1999). Morphological differences and diverse heterochromatic patterns observed in B chromosomes of the Characidium species suggest an independent origin process for these chromosomes, followed by specific, internal modifications. Contrarily to the fully heterochromatic chromosomes found in Characidium sp. aff. C. gomesi, the partially heterochromatic B chromosomes found in C. oiticicai and C. pterostictum could have originated from recent events, i.e., from heterochromatic or euchromatic elements followed by modifications in the chromatin distribution patterns. On the other hand, the constitutive heterochromatin does not seem to have participated in the origin and development of the extra chromosome observed in Characidium cf. zebra, which is euchromatic (Venere et al., 1999).
and consisted of a protocol that instructed the collection of a vaginal-rectal swab for GBS screening for every woman ≥24 weeks of pregnancy admitted to the hospital withpremature labor or premature rupture of membranes. Additionally, it rec- ommended IAP for (1) every woman with a positive GBS swab; (2) every woman, regardless of swab result, with a positive urine culture for GBS any time during pregnancy, or with a his- tory of a previous child with GBS sepsis; and (3) every woman with an unknown GBS colonization status, who was in labor <37 weeks of pregnancy or ≥18 h of rupture of membranes or with fever (temperature ≥38 ◦ C) during labor (Fig. 1). It is impor- tant to note that GBS screening during prenatal care was not a policy and that the vast majority ofwomen had an unknown GBS status colonization upon arrival at the maternity hospital. The swab was collected and immediately placed by the assistant physician in the Todd-Hewitt broth, a selective enrichment broth used to identify GBS, and then forwarded to the microbiology laboratory. After enrichment, GBS was iso- lated by subcultures on blood agar plates with CAMP-disk test for presumptive identiﬁcation.
Sixty-five infertile men with testicular abnormalities of unknown etiology were ascertained at the Outpatient Clinic for Male Infertility of the University Hospital, School of Medicine of Ribeirão Preto, University of São Paulo (HCFMRP-USP). Patients were clinically evaluated by anamnesis, general and specific physical examination and complementary tests (sperm count, hormonal evalua- tion, histopathological studies by testicular biopsy, seminal vesiculography and ultrasonography). The sample con- sisted of 27 patients with azoospermia, 19 cases of severe oligozoospermia (≤ 1 x 10 6 sperm/mL), 18 cases of oligozoospermia (1-20 x 10 6 sperm/mL) and one patient with a normal sperm count (> 20 x 10 6 sperm/mL), but pre- senting with motility alteration (asthenozoospermia). Pa- tients with post-testicular infertility, such as unilateral or bilateral congenital agenesis of the vas deferens, were not included in this study. The control sample for the cytogenetic studies on germ cells was obtained by testicular biopsy from an individual who was about to undergo a va- sectomy and had recently proven fertility (a child less than two years before the biopsy was performed). All samples were collected under written consent from the subjects, in accordance with the ethical standards of the committee on
The major congenital malformations among offspring ofwomenwith diabetes are found in the following sys- tems: cardiovascular (cardiac transposition of the great arteries, ventricular septal defect, coarctation of the aorta, atrial septal defect, asymmetric septal hypertrophy), central nervous system (neural tube defects, including an- encephaly, microcephaly and isolated hydrocephalus), gastrointestinal (duodenal atresia, anorectal atresia, hypo- plastic left colon), musculoskeletal (talipes, arthrogryposis), urinary tract (uretal duplication, cystic kidney, renal dys- genesis, hydronephrosis), caudal regression syndrome, cleft lips and palate anomalies [9,20]. These major congenital abnormalities are an important contributory factor for the high mortality rates found in infants ofwomenwith dia- betes . Preterm delivery is four to five times higher among mothers with diabetes . Generally, babies of mothers with diabetes tend to fare less well at all stages of the pregnancy. The possibility of a premature delivery is al- ways strived by the health care team as much as possible, but this is not always possible. In the presence of signifi- cant complications, the mother’s and the babies’ health is paramount and early delivery may become a life-saving measure . Preterm infants born to womenwith any type of diabetes, have a much greater risk of presenting a wide range of complications such as, intrauterine growth restric- tion, low-birth-weight, respiratory distress syndrome, hypoglycemia, hypocalcemia, polycythemia, intrauterine death, hyperbilirubinemia, several types of malformations, hypertrophic cardiomyopathy and asphyxia compared to those born to women without diabetes [1,3].
The stages of saturation depends from the introduced titanium's quantity. With reaction: (3) results, that 1 g titanium binds 0.25 g of carbon, which lets 1.25 the g TiC. In this way near the titanium's suitable additions it is possible to tie the whole carbon of solution in TiC, which causes little that the crystallization of carbide of aluminium is probable. It material it which after crystallization was it been possible was to treat as composite was received was then "in situ ”, folding with warp FeAl strengthened titanium's carbides.
Chemotherapy (CTx) is commonly used for treating various malignancies and can improve the survival rate for cancer patients . A potential adverse effect of chemotherapy is to decrease the number ofovarian follicles, disrupt the menstrual cycle, induce infertility, and cause irreversible prematureovarian failure (POF) [2–4]. In addition, early onset of menopause can result in the reduction in the quality of life. POF is associated with risks of cardiovascular disease , osteoporosis , and psychiatric diseases such as depression . A recent study showed that bone marrow transplantation can rescue the fertility of mice with CTx . Subsequently, more studies proved that transplantation of mesenchymal stem cells (MSCs) could restore partial ovarian function in a mouse model of CTx-induced POF [9,10]. These findings suggested the potential of MSCs to treat ovarian failure in humans, but its cellular and molecular mechanisms are still unknown. Furthermore, the proliferative capacity of MSCs in vitro is limited, and its acquisition is highly invasive ; therefore,
Objective: understanding the strategies used by nurses in the Neonatal Intensive Care Unit of HUAP (University Hospital Antonio Pedro) in the clinical management of breastfeeding with mothers of newborn preterm. Method: a descriptive, exploratory and qualitative survey approved by the Ethics Committee in Research of the Faculty of Medicine of HUAP under Protocol: 0199.0.258.000-11, enabling the beginning of data collection conducted between June and August 2012 through semi-structured interviews with twenty- two (22) nurses working in that unit. Results: there was an insufficient knowledge and skills of the subjects to properly manage situations that may hinder a successful breastfeeding. Nurses must act as educators, responsible for managing the care, being also able defining strategies for success there in the process of breastfeeding. Conclusion: thus, the educational process of the nurse is essential for the promotion, protection and support of breastfeeding. Descriptors: breast feeding, human milk, women’s health, nursing.
A menopausa é definida como o término permanente do ciclo menstrual resultante da perda da atividade folículo-ovariana (Paoletti e Wenger, 2003). São consideradas em menopausa natural as mulheres que estão em amenorréia secundária há pelo menos doze meses consecutivos, na ausência de cirurgia, gestação, aleitamento materno ou doença autoimune (World Health Organization Scientific Group, 1996). A idade média mundial para menopausa é de 50 anos de idade (Morabia e Constanza 1998) e a distribuição de idades de menopausa, entre 40 e 60 anos, segue aproximadamente uma curva normal (Wood 1989; te Velde e Pearson 2002). Cerca de 1% das mulheres atinge a menopausa antes dos 40 anos de idade. Essa condição é denominada falência ovariana prematura ou menopausa precoce (PrematureOvarian Failure, POF; MIM 311360). Um segundo grupo de mulheres (cerca de 10%) tem menopausa cedo (Early Menopause, EM), entre 40 e 45 anos de idade (Coulam e col. 1986; Torgerson e col. 1997), numa das extremidades da curva normal da distribuição de idades de menopausa. Um estudo de mulheres com EM idiopática verificou que 50% dessas mulheres possuíam histórico familial de EM ou POF, sugerindo que essas condições estejam relacionadas e representem a expressão variável de um mesmo distúrbio genético (Tibiletti e col. 1999).
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