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1.
Nutrients ; 16(11)2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38892653

RESUMEN

The onset of puberty, which is under the control of the hypothalamic-pituitary-gonadal (HPG) axis, is influenced by various factors, including obesity, which has been associated with the earlier onset of puberty. Obesity-induced hypothalamic inflammation may cause premature activation of gonadotropin-releasing hormone (GnRH) neurons, resulting in the development of precocious or early puberty. Mechanisms involving phoenixin action and hypothalamic microglial cells are implicated. Furthermore, obesity induces structural and cellular brain alterations, disrupting metabolic regulation. Imaging studies reveal neuroinflammatory changes in obese individuals, impacting pubertal timing. Magnetic resonance spectroscopy enables the assessment of the brain's neurochemical composition by measuring key metabolites, highlighting potential pathways involved in neurological changes associated with obesity. In this article, we present evidence indicating a potential association among obesity, hypothalamic inflammation, and precocious puberty.


Asunto(s)
Hipotálamo , Obesidad Infantil , Pubertad Precoz , Humanos , Obesidad Infantil/complicaciones , Hipotálamo/metabolismo , Niño , Pubertad Precoz/etiología , Pubertad/fisiología , Inflamación , Femenino , Hormona Liberadora de Gonadotropina/metabolismo , Masculino , Sistema Hipotálamo-Hipofisario/metabolismo
2.
Int J Mol Sci ; 25(3)2024 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-38339186

RESUMEN

Infertility is a modern health problem. Obesity is another expanding health issue associated with chronic diseases among which infertility is also included. This review will focus on the effects of weight loss by medical therapy on fertility regarding reproductive hormonal profile, ovulation rates, time to pregnancy, implantation rates, pregnancy rates, normal embryo development, and live birth rates. We comprised medicine already used for weight loss, such as orlistat and metformin, and emerging medical treatments, such as Glucagon-Like Peptide-1 receptor agonists (GLP-1 RA). Their use is not recommended during a planned pregnancy, and they should be discontinued in such cases. The main outcomes of this literature review are the following: modest weight loss after medication and the duration of the treatment are important factors for fertility improvement. The fecundity outcomes upon which medical-induced weight loss provides significant results are the female reproductive hormonal profile, menstrual cyclicity, ovulation and conception rates, and pregnancy rates. Regarding the male reproductive system, the fertility outcomes that feature significant alterations after medically induced weight loss are as follows: the male reproductive hormonal profile, sperm motility, movement and morphology, weight of reproductive organs, and sexual function. The newer promising GLP-1 RAs show expectations regarding fertility improvement, as they have evidenced encouraging effects on improving ovulation rates and regulating the menstrual cycle. However, more human studies are needed to confirm this. Future research should aim to provide answers about whether medical weight loss therapies affect fertility indirectly through weight loss or by a possible direct action on the reproductive system.


Asunto(s)
Infertilidad Femenina , Embarazo , Humanos , Masculino , Femenino , Infertilidad Femenina/terapia , Motilidad Espermática , Reproducción , Pérdida de Peso , Péptido 1 Similar al Glucagón
3.
Cureus ; 15(10): e47832, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37899902

RESUMEN

INTRODUCTION: Thrombophilic genetic polymorphisms of the platelet glycoproteins Ia (GpIa) and IIIa (GpIIIa) have been associated with an increased risk of recurrent miscarriages. The aim of this study was to investigate the association of genetic polymorphisms GpIa-C807T and GpIIIa-T1565C-PlA1/PlA2 with platelet function in women with unexplained spontaneous recurrent miscarriages. METHODS: This cross-sectional study comprised 196 unrelated nulliparous Greek women with a history of unexplained recurrent miscarriages. Patients were genotyped for the presence of the GpIa-C807T (rs1126643) and GpIIIa-T1565C-PlA1/PlA2 (rs5918) genetic polymorphisms by pyrosequencing, and the collagen/epinephrine closure time (COL/EPI CT) of the subjects was assessed using the platelet function analyzer (PFA)-100. RESULTS:  In the total population of women with recurrent miscarriages, the COL/EPI CT ranged from 70 to 160 seconds (median: 122 seconds, interquartile range (IQR): 102.3-138 seconds). In comparison with the double homozygotes CC/PlA1PlA1 that had the most prolonged CT (mean: 131.9 ± 17.5 seconds), the COL/EPI CT was statistically significantly shorter for the GpIa-807T single carriers (mean: 120.3 ± 20.9 seconds) (p=0.011) (absolute difference: 11.6 seconds, 95% confidence interval (CI): 21.2 to -2.0 seconds; relative difference: -9%, 95% CI: -16% to -2%), and the GpIIIa-PlA2 single carriers also displayed a trend for shorter COL/EPI CT (mean: 121.3 ± 23.7 seconds) (p=0.141) (absolute difference: -10.6 seconds, relative difference: -8%), whereas the combined carriers of the GpIa-807T and the GpIIIa-PlA2 alleles exhibited the shortest COL/EPI CT (mean: 104.1 ± 19.7 seconds) (absolute difference: -27.7 seconds, 95% CI: -39.1 to -16.3 seconds; relative difference: -21%, 95% CI: -30% to -12%) (p<0.001). In comparing genotype frequencies in the lower half with those in the upper half of the COL/EPI CT range, the GpIa-807T and the GpIIIa-PlA2 single carriers were associated with higher odds of COL/EPI CT < 122 seconds (odds ratio (OR)=3.4, 95% CI: 1.5 to 7.5, p=0.002, and OR=2.6, 95% CI: 1.0 to 7.2, p=0.053, respectively). The association was strongest for the combined carriers with OR of 15.0 (95% CI: 5.2 to 43.2, p<0.001) for COL/EPI CT below the median and OR of 35.5 (95% CI: 4.4 to 284.5, p<0.001) for COL/EPI CT < 100 seconds. CONCLUSION: The GpIa-C807T and GpIIIa-PlA1/PlA2 polymorphisms and more pronouncedly the combined carriers of the risk variants are associated with enhanced platelet reactivity expressed via shorter COL/EPI CT. These findings provide further evidence for the role of platelet-associated genetic thrombophilia in the pathogenesis of recurrent miscarriages and promote the analysis of platelet function as a diagnostic tool in the evaluation of this disorder.

4.
Nutrients ; 15(19)2023 Oct 09.
Artículo en Inglés | MEDLINE | ID: mdl-37836591

RESUMEN

The prevalence of central precocious puberty (CPP) in girls has increased worldwide and is often associated with obesity in childhood as well as high fat/high glycemic index diets. Evidence suggests that subjects with obesity present with alterations in appetite-regulating hormones. The arcuate and paraventricular nuclei of the hypothalamus are the centers of action of appetite hormones, as well as the location of gonadotropin-releasing hormone (GnRH) neurons, the activation of which results in the onset of puberty. This anatomical proximity raises the question of possible alterations in appetite-regulating hormones in patients with CPP. Furthermore, diet-induced hypothalamic inflammation constitutes a probable mechanism of the pathophysiology of CPP, as well as alterations in appetite-regulating hormones in young children. In this article, we summarize the evidence investigating whether girls with CPP present with alterations in appetite-regulating hormones. We present evidence that leptin concentrations are elevated in girls with CPP, ghrelin concentrations are lower in girls with CPP, nesfatin-1 and orexin-A concentrations are elevated among girls with premature thelarche, and insulin concentrations are increased in girls with early menarche.


Asunto(s)
Obesidad Infantil , Pubertad Precoz , Femenino , Niño , Humanos , Preescolar , Hormona Luteinizante , Apetito , Hormona Liberadora de Gonadotropina , Hormona Folículo Estimulante
5.
Children (Basel) ; 10(7)2023 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-37508646

RESUMEN

Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in the tumor protein p53 (TP53) gene and elevated risk of a broad range of early-onset malignancies. Patients with LFS are at risk of a second and third primary tumor. A 15-month-old girl consulted for clitoromegaly and pubic hair. Adrenal ultrasound detected a large left adrenal tumor. Left total adrenalectomy confirmed adrenocortical carcinoma. Family history revealed multiple highly malignant neoplasms at an early age across five generations, and a genetic dominant trait seemed probable. Whole-genome sequencing was performed. Multiple members of the family were found positive for a novel likely pathogenic variant (c. 892delGinsTTT, p. Glu298PhefsX48, NM_000546.6) in the TP53 gene, causing the loss of normal protein function through non-sense-mediated mRNA decay. According to the PSV1 supporting criteria and the Auto PVS1 online tool this frameshift variant: hg19/17-7577045-TC-TAAA:NM_000546.6 has a very strong, definitive clinical validity for LFS with autosomal dominant inheritance. Proper guidance resulted in timely diagnosis of a second tumor (primary osteosarcoma) in the index case and in the early detection of breast and cervical cancer in her young mother. Patients with cancer predisposition syndromes like LFS require close multidisciplinary cancer surveillance and appropriate referral to expert centers.

6.
Int J Mol Sci ; 24(12)2023 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-37372976

RESUMEN

Female infertility and reproduction is an ongoing and rising healthcare issue, resulting in delaying the decision to start a family. Therefore, in this review, we examine potential novel metabolic mechanisms involved in ovarian aging according to recent data and how these mechanisms may be addressed through new potential medical treatments. We examine novel medical treatments currently available based mostly on experimental stem cell procedures as well as caloric restriction (CR), hyperbaric oxygen treatment and mitochondrial transfer. Understanding the connection between metabolic and reproductive pathways has the potential to offer a significant scientific breakthrough in preventing ovarian aging and prolonging female fertility. Overall, the field of ovarian aging is an emerging field that may expand the female fertility window and perhaps even reduce the need for artificial reproductive techniques.


Asunto(s)
Envejecimiento , Infertilidad Femenina , Femenino , Humanos , Ovario/metabolismo , Reproducción , Infertilidad Femenina/metabolismo , Técnicas Reproductivas , Oocitos/metabolismo
7.
Children (Basel) ; 10(3)2023 Mar 21.
Artículo en Inglés | MEDLINE | ID: mdl-36980159

RESUMEN

Several factors during childhood and adolescence are thought to be associated with the development of proliferative benign breast diseases and breast cancer in adulthood. In order to identify them, the authors conducted an extensive review of the literature up to October 2022, searching for clinical studies, reports, and guidelines in English. A thorough Medline/Pubmed and Google scholar database research was performed, investigating the link between diet, exercise, age of menarche, body mass index, ionizing radiation exposure during childhood and adolescence, and proliferative breast diseases and breast cancer in adulthood. A list of keywords, including breast disorders, adolescence, childhood, and breast cancer was included in our search algorithm. Numerous studies concede that the development of breast disease in adulthood is influenced by various risk factors, whose influence begins during early childhood and adolescence.

8.
Cureus ; 15(3): e36584, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36968684

RESUMEN

INTRODUCTION: The maternal immune system has a major role in the successful embryo implantation and maintenance of the pregnancy. This study aimed to investigate the maternal immunophenotyping profile (percentage of Natural Killer [NK] cells and the CD4/CD8 [cluster designation] ratio in peripheral blood lymphocytes) and the HLA (Human Leukocyte Antigen)-DQA1 alleles sharing in infertile couples. METHODS: This cross-sectional study included 78 women who had experienced at least two spontaneous miscarriages and 110 women with a history of recurrent implantation failures after in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) and embryo transfer (ET) (IVF-ET failures). The NK cell percentage and the CD4/CD8 ratio were determined by flow cytometry. Genotyping of the HLA-DQA1 alleles was carried out for all women and their partners, and couple HLA-DQA1 compatibility was expressed as the percentage of common HLA-DQA1 alleles (totaling 35 alleles) shared between spouses to the sum of the unique alleles observed. RESULTS: In women with recurrent miscarriages, high values (%) of the NK population with a median (interquartile range [IQR]) of 10.3% (7.7% to 12.5%) and CD4/CD8 ratio (1.7) (1.5 to 2.1) were found. In women with IVF-ET failures, the (%) NK population (10.5%) (8.6% to 12.5%) and CD4/CD8 ratio (1.8) (1.5 to 2.1) were similarly increased (p=0.390, and p=0.490, respectively). The proportion of women with >10% NK cells was 53.8% and 58.2% in women with miscarriages and IVF-ET failures, respectively (p=0.554). The prevalence of HLA-DQA1*5 allele carriage was elevated in women with miscarriages as well as those with IVF-ET failures (52.6% and 61.8%, respectively; p=0.206). The proportion of couples with high (>50%) HLA-DQA1 sharing was 65.4% in the group with miscarriages and 73.6% in the group with IVF-ET failures, respectively (p=0.222). The CD4/CD8 ratio was statistically significantly positively correlated with the (%) NK population in women with IVF-ET failures (rho = 0.297, p=0.002) and with the (%) HLA-DQA1 sharing in the group with miscarriages (rho = 0.266, p=0.019). The couples in which both spouses were carriers of the HLA-DQA1*5 allele had an increased probability of high (>50%) HLA-DQA1 compatibility compared with the couples in which neither of the spouses carried the allele in the miscarriage group (OR = 24.3, 95% CI: 3.0 to 198.9, p<0.001), and the IVF-ET failure group (OR = 10.5, 95% CI: 2.2 to 49.8, p<0.001). CONCLUSION: The peripheral NK (%) population and CD4/CD8 ratio, as well as the prevalence of the HLA-DQA1*5 allele, were elevated in women with recurrent miscarriages and IVF-ET failures. Furthermore, these couples with negative reproductive outcomes had a high percentage of HLA-DQA1 allele similarity. The presence of the HLA-DQA1*5 allele in spouses was strongly associated with overall couple HLA-DQA1 compatibility, implying that it could be used as a surrogate marker for assessing overall immunological compatibility in infertile couples.

9.
Children (Basel) ; 9(12)2022 Dec 03.
Artículo en Inglés | MEDLINE | ID: mdl-36553343

RESUMEN

Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic condition by mutations in the androgen receptor (AR) gene resulting in target issue resistance to androgens and a female phenotype in genetically male individuals. A 16-year-old phenotypically female individual presented to our clinic with primary amenorrhea. Her clinical evaluation showed normal female external genitalia, Tanner III breast development and sparse pubic and axillary hair (Tanner stage II). Hormonal assessment revealed increased concentrations of Luteinizing Hormone (LH), Testosterone and Antimüllerian Hormone (AMH). Image studies detected no uterus or gonads, but a blind vagina and the karyotype was 46, XY. These findings suggested the diagnosis of CAIS, and genetic testing of the AR gene revealed a rare pathogenic mutation of cytosine to adenine (c.2612C>A) replacing alanine with glutamic acid at position 871 (p.Ala871Glu) in the AR, previously described once in two adult sisters. The patient underwent gonadectomy and received hormonal replacement therapy. This study expands the AR mutation database and shows the complexity and the importance of prompt diagnosis, proper management, and follow-up for CAIS patients, underlining the need for standardized protocols.

10.
Children (Basel) ; 9(10)2022 Oct 12.
Artículo en Inglés | MEDLINE | ID: mdl-36291485

RESUMEN

Conjoined twins represent a rare type of monoamniotic twins. Ultrasound assessment during the first trimester can facilitate the diagnosis, however further assessment by colour Doppler studies, 3D imaging, fetal echocardiography and fetal magnetic resonance imaging (MRI) is usually required in order to determine the specific fetal abnormalities and to guide appropriate pregnancy management. This case report presents a rare case of conjoined twins complicating a dichorionic-diamniotic triplet pregnancy, achieved after intracytoplasmic sperm injection (ICSI) and blastocyst transfer. A 44-year-old woman was referred for chorionicity determination to our Fetal Medicine Centre due to suspicion of conjoined twins in a triplet pregnancy. Ultrasound assessment at 11 weeks demonstrated a dichorionic triplet pregnancy which was also complicated by a rare type of conjoined twins (thoracoomphalopagus) and after a successful embryo reduction a neonate of 2200 g was delivered by caesarean section at term. The accurate diagnosis and early detection of conjoined twins by a fetal medicine specialist is crucial, especially as far as multiple pregnancies with three or more fetuses are concerned.

11.
Cancers (Basel) ; 14(18)2022 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-36139659

RESUMEN

The incidence of endometrial cancer (EC) is rising and healthcare professionals need to be informed about the latest data on the constant developments in the field of its management. With particular interest in the classification and management of EC, we surveyed current literature, national and international data, and guidelines, as well as the latest studies to present the most recent data regarding the management of EC. It became evident that despite the consensus on low-risk EC, there are still controversies surrounding the management of high-risk EC, especially regarding the role of sentinel lymph node biopsy (SLNB). Our aim is to present the old and new perspectives in the management of EC, the different available surgical routes, the possible desire for fertility preservation, the role of adjuvant therapies and the focus on the advantages and the limitations of the implementation of SLNB in therapeutic strategies. It became evident throughout our search and based on literature data that minimally invasive surgery (MIS) leads to satisfying outcomes, thus becoming gradually the preferred route of surgery, while SLNB could provide essential information and guidance about the overall management needed in cases of both low-risk and high-risk EC.

12.
Int J Mol Sci ; 23(15)2022 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-35955462

RESUMEN

Fetal exposure in adverse environmental factors during intrauterine life can lead to various biological adjustments, affecting not only in utero development of the conceptus, but also its later metabolic and endocrine wellbeing. During human gestation, maternal bone turnover increases, as reflected by molecules involved in bone metabolism, such as vitamin D, osteocalcin, sclerostin, sRANKL, and osteoprotegerin; however, recent studies support their emerging role in endocrine functions and glucose homeostasis regulation. Herein, we sought to systematically review current knowledge on the effects of aforementioned maternal bone biomarkers during pregnancy on fetal intrauterine growth and metabolism, neonatal anthropometric measures at birth, as well as on future endocrine and metabolic wellbeing of the offspring. A growing body of literature converges on the view that maternal bone turnover is likely implicated in fetal growth, and at least to some extent, in neonatal and childhood body composition and metabolic wellbeing. Maternal sclerostin and sRANKL are positively linked with fetal abdominal circumference and subcutaneous fat deposition, contributing to greater birthweights. Vitamin D deficiency correlates with lower birthweights, while research is still needed on intrauterine fetal metabolism, as well as on vitamin D dosing supplementation during pregnancy, to diminish the risks of low birthweight or SGA neonates in high-risk populations.


Asunto(s)
Desarrollo Fetal , Deficiencia de Vitamina D , Peso al Nacer , Niño , Femenino , Humanos , Recién Nacido de Bajo Peso , Recién Nacido , Embarazo , Vitamina D , Vitaminas
13.
Children (Basel) ; 9(8)2022 Aug 19.
Artículo en Inglés | MEDLINE | ID: mdl-36010146

RESUMEN

Cancer during childhood and adolescence remains a major public health issue, affecting a significant portion of this age group. Although newer anti-cancer treatments have improved survival rates, this comes at a cost in terms of gonadotoxic effects. As a result, the preservation of fertility is important. Ovarian tissue cryopreservation, one of the newest methods, has some advantages, especially for prepubertal patients: no need for ovarian stimulation, thus, no further risk for estrogen-sensitive cancer types, and preservation of more and better-quality primordial follicles of the ovarian cortex. The most frequent indications include treatment with alkylating agents, ovarian-focused radiotherapy, leukemias, lymphomas, brain and neurological tumors, as well as Turner syndrome and benign hemoglobinopathies. An expected survival exceeding 5 years, the absence of systematic disease and an overall risk of premature ovarian insufficiency over 50% are among the criteria that need to be fulfilled in order for a patient to undertake this method. Orthotopic transplantation is more frequently used, since it can allow both live birth and the recovery of endocrine function. Reimplantation of malignant cells is always a major risk and should always be taken into consideration. Histological analysis, as well as immunohistochemical and molecular methods, are needed in order to improve the search for malignant cells before transplantation. Ovarian tissue cryopreservation appears to be a method with specific benefits, indications and risks which can be an important tool in terms of preserving fertility in younger women.

14.
Diagnostics (Basel) ; 12(5)2022 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-35626281

RESUMEN

Background: The COVID-19 pandemic has led to significant changes in the care of pregnant women and their fetuses. Emerging data show elevated depression and anxiety symptoms among pregnant women. Aims: The purpose of this article is to investigate the psychological and behavioral impact of the COVID-19 pandemic on pregnant women in Greece during the first national lockdown. Methods: We used a cross-sectional, anonymous survey to collect data in two fetal medicine clinics in the largest urban centers of Greece during the months of April and May 2020. The questionnaire was largely based on the CoRonavIruS Health Impact Survey (CRISIS), and assessed sociodemographic characteristics, general health and obstetric data and COVID-19-related worries and life changes. Mood symptoms, substance use and lifestyle behaviors were assessed at two time points (3 months prior to the pandemic and the 2 weeks before taking the survey), while perceived stress was measured with the perceived stress scale (PSS-14). Results: A total of 308 pregnant women (Mage = 34.72), with a mean gestation of 21.19 weeks participated in the study. Over one-third of the women found COVID-19 restrictions stressful, and their highest COVID-19-related worry was having to be isolated from their baby. Mean PSS-14 score was 21.94, suggesting moderate stress. The strongest predictors of stress were physical and mental health status before COVID-19 and having experienced a stressful life event during their pregnancy. Compared to 3 months before the pandemic, women reported higher scores on mood symptoms (p < 0.001), TV use (p = 0.01) and social media use (p = 0.031) in the last 2 weeks before taking the survey. Conclusion: Our study provides important preliminary evidence of the negative impact of the COVID-19 pandemic and the lockdown on pregnant women's well-being and functioning.

15.
Int J Mol Sci ; 23(4)2022 Feb 18.
Artículo en Inglés | MEDLINE | ID: mdl-35216409

RESUMEN

In this review, we analyzed existing literature regarding the use of Gonadotropin-releasing Hormone (GnRH) analogues (agonists, antagonists) as a co-treatment to chemotherapy and radiotherapy. There is a growing interest in their application as a prophylaxis to gonadotoxicity caused by chemotherapy and/or radiotherapy due to their ovarian suppressive effects, making them a potential option to treat infertility caused by such chemotherapy and/or radiotherapy. They could be used in conjunction with other fertility preservation options to synergistically maximize their effects. GnRH analogues may be a valuable prophylactic agent against chemotherapeutic infertility by inhibiting rapid cellular turnover on growing follicles that contain types of cells unintentionally targeted during anti-cancer treatments. These could create a prepubertal-like effect in adult women, limiting the gonadotoxicity to the lower levels that young girls have. The use of GnRH agonists was found to be effective in hematological and breast cancer treatment whereas for ovarian endometrial and cervical cancers the evidence is still limited. Studies on GnRH antagonists, as well as the combination of both agonists and antagonists, were limited. GnRH antagonists have a similar protective effect to that of agonists as they preserve or at least alleviate the follicle degradation during chemo-radiation treatment. Their use may be preferred in cases where treatment is imminent (as their effects are almost immediate) and whenever the GnRH agonist-induced flare-up effect may be contra-indicated. The combination treatment of agonists and antagonists has primarily been studied in animal models so far, especially rats. Factors that may play a role in determining their efficacy as a chemoprotective agent that limits gonadal damage, include the type and stage of cancer, the use of alkylating agents, age of patient and prior ovarian reserve. The data for the use of GnRH antagonist alone or in combination with GnRH agonist is still very limited. Moreover, studies evaluating the impact of this treatment on the ovarian reserve as measured by Anti-Müllerian Hormone (AMH) levels are still sparse. Further studies with strict criteria regarding ovarian reserve and fertility outcomes are needed to confirm or reject their role as a gonadal protecting agent during chemo-radiation treatments.


Asunto(s)
Fertilidad/efectos de los fármacos , Hormona Liberadora de Gonadotropina/farmacología , Neoplasias/tratamiento farmacológico , Reproducción/efectos de los fármacos , Animales , Antineoplásicos/farmacología , Femenino , Preservación de la Fertilidad/métodos , Humanos , Ovario/efectos de los fármacos
16.
Nutrients ; 13(10)2021 Sep 29.
Artículo en Inglés | MEDLINE | ID: mdl-34684462

RESUMEN

Recent studies have shown a rise in precocious puberty, especially in girls. At the same time, childhood obesity due to overnutrition and energy imbalance is rising too. Nutrition and fertility are currently facing major challenges in our societies, and are interconnected. Studies have shown that high-fat and/or high-glycaemic-index diet can cause hypothalamic inflammation and microglial activation. Molecular and animal studies reveal that microglial activation seems to produce and activate prostaglandins, neurotrophic factors activating GnRH (gonadotropin-releasing hormone expressing neurons), thus initiating precocious puberty. GnRH neurons' mechanisms of excitability are not well understood. In this review, we study the phenomenon of the rise of precocious puberty, we examine the physiology of GnRH neurons, and we review the recent literature regarding the pathophysiological mechanisms that connect diet-induced hypothalamic inflammation and diet-induced phoenixin regulation with precocious puberty.


Asunto(s)
Dieta/efectos adversos , Encefalitis/complicaciones , Hipotálamo/metabolismo , Hormonas Peptídicas/metabolismo , Pubertad Precoz/etiología , Pubertad Precoz/metabolismo , Animales , Biomarcadores , Susceptibilidad a Enfermedades , Encefalitis/etiología , Encefalitis/patología , Humanos , Hipotálamo/patología
17.
Eur J Med Genet ; 64(11): 104318, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34450357

RESUMEN

Baraitser - Winter Cerebrofrontofacial Syndrome (BWCFF) is a rare disorder characterized by facial dysmorphism and mental retardation of varying grades. The clinical phenotype of BWCFF indicates variable phenotypic expression involving various congenital malformations such as cardiac, renal and musculoskeletal abnormalities. Nevertheless, the prenatal presentation of BWCFF is rarely described, making prenatal diagnosis challenging. This report describes a prenatal diagnosis of BWCFF syndrome to date; a case of a fetus with intrauterine growth restriction, increased nuchal fold, bilateral hydronerphosis, rocker bottom foot and clubfoot detected on Anomaly Scan is outlined. Molecular karyotype failed to detect any abnormality. Assessment with Next Generation Sequencing was then performed, revealing a heterozygous de novo mutation in ACTB gene setting the diagnosis of BWCFF.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Anomalías Craneofaciales/diagnóstico por imagen , Ultrasonografía Prenatal , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Actinas/genética , Adulto , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/patología , Femenino , Humanos , Embarazo , Secuenciación del Exoma
18.
Epigenomics ; 7(6): 951-9, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26443384

RESUMEN

miRNAs are small noncoding RNAs that regulate gene expression at the post-transcriptional level. Since their discovery, miRNAs have been associated with every cell function including malignant transformation and metastasis. Endometrial cancer is the most common gynecologic malignancy. However, improvement should be made in interobserver agreement on histological typing and individualized therapeutic approaches. This article summarizes the role of miRNAs in endometrial cancer pathogenesis and treatment.


Asunto(s)
Neoplasias Endometriales/genética , Regulación Neoplásica de la Expresión Génica , MicroARNs/genética , Neoplasias Endometriales/mortalidad , Neoplasias Endometriales/patología , Neoplasias Endometriales/terapia , Transición Epitelial-Mesenquimal/genética , Femenino , Humanos , Pronóstico , Interferencia de ARN , Resultado del Tratamiento
19.
Gynecol Endocrinol ; 30(11): 825-9, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24954511

RESUMEN

This prospective study examines if pre-treatment with two different doses of an oral contraceptive pill (OCP) modifies significantly the hormonal profile and/or the IVF/ICSI outcome following COS with a GnRH antagonist protocol. Infertile patients were allocated to receive either OCP containing 0.03 mg of ethinylestradiol and 3 mg of drospirenone, or OCP containing 0.02 mg of ethinylestradiol and 3 mg of drospirenone prior to initiation of controlled ovarian stimulation (COS) with recombinant gonadotropins on a variable multi-dose antagonist protocol (Ganirelix), while the control group underwent COS without OCP pretreatment. Lower dose OCP was associated with recovery of FSH on day 3 instead of day 5, but the synchronization of the follicular cohort, the number of retrieved oocytes and the clinical pregnancy rate were similar to higher dose OCP.


Asunto(s)
Anticonceptivos Orales Combinados/administración & dosificación , Hormona Folículo Estimulante/sangre , Hormona Liberadora de Gonadotropina/análogos & derivados , Hormona Liberadora de Gonadotropina/antagonistas & inhibidores , Antagonistas de Hormonas/uso terapéutico , Ciclo Menstrual/efectos de los fármacos , Inducción de la Ovulación/métodos , Adulto , Androstenos/administración & dosificación , Androstenos/uso terapéutico , Anticonceptivos Orales Combinados/uso terapéutico , Esquema de Medicación , Etinilestradiol/administración & dosificación , Etinilestradiol/uso terapéutico , Femenino , Hormona Liberadora de Gonadotropina/uso terapéutico , Humanos , Embarazo , Índice de Embarazo , Resultado del Tratamiento
20.
J Matern Fetal Neonatal Med ; 23(9): 1019-23, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20082598

RESUMEN

OBJECTIVE: To evaluate the role of resistin in the pathophysiology of insulin resistance during pregnancy and on the birth weight of infants born from women with gestational diabetes (GDM). MATERIAL AND METHODS: Thirty women diagnosed with GDM were compared to 30 normal pregnant controls. Maternal serum resistin and insulin levels were measured at the time of the oral glucose tolerance test screening. In addition, umbilical levels of resistin and insulin were measured at the time of delivery. RESULTS: There was no difference in maternal serum resistin levels in women with GDM as compared to normal controls at 24-26 weeks. There was no difference in umbilical resistin levels between the infants born in the two groups. There was no correlation between infant weight and either maternal resistin at 24-26 week or umbilical resistin levels. CONCLUSION: There were no significant differences in umbilical resistin levels between infants born of women with GDM as compared to normal pregnant women. In addition, there was no correlation between resistin levels during pregnancy, as well as between umbilical resistin levels and neonatal birth weight. In conclusion, resistin seems to play a rather minor role in the pathophysiology of GDM and the energy metabolism during fetal life.


Asunto(s)
Peso al Nacer , Diabetes Gestacional/sangre , Sangre Fetal/química , Embarazo/sangre , Resistina/sangre , Adulto , Peso al Nacer/fisiología , Glucemia/metabolismo , Estudios de Casos y Controles , Diabetes Gestacional/etiología , Metabolismo Energético/fisiología , Femenino , Sangre Fetal/metabolismo , Feto/metabolismo , Prueba de Tolerancia a la Glucosa , Humanos , Recién Nacido , Insulina/sangre , Insulina/metabolismo , Resistencia a la Insulina/fisiología , Madres , Resistina/análisis , Resistina/fisiología
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