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Síndrome do carcinoma basocelular nevoide (SCBCN) é uma doença rara herdada que envolve defeitos em múltiplos sistemas corporais, como a pele, sistema nervoso, olhos, sistema endócrino e ossos. Pessoas com SCBCN são propensas a desenvolver vários tipos de câncer, incluindo uma forma comum e geralmente não fatal de câncer de pele não melanoma, chamada carcinoma basocelular (CBC). Apenas cerca de 10% das pessoas com a condição não desenvolvem CBCs; a vasta maioria dos pacientes desenvolve numerosos CBCs.
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🇧🇷 Atendimento SUS — Síndrome de gigantismo cerebral-cistos mandibulares
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Publicações mais relevantes
Neurotrophin and Adipokine Signatures Associated with Visceral Adiposity-Driven Cardiometabolic and Endocrine Risk in Polycystic Ovary Syndrome.
Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine-metabolic disorder associated with insulin resistance (IR), visceral adiposity, and increased cardiometabolic risk. The visceral adiposity index (VAI) is a validated surrogate marker of adipose tissue dysfunction, but its relationship with circulating neurotrophins and adipokine balance in PCOS remains incompletely understood. In this study, 100 women with PCOS were stratified into lower- (n = 50) and higher-risk (n = 50) groups according to VAI. Anthropometric measures, fasting glucose and insulin concentrations, lipid profile, and serum levels of brain-derived neurotrophic factor (BDNF), nerve growth factor-β (NGFβ), leptin, adiponectin, and resistin were assessed. HOMA-IR, adipokine ratios and atherogenic indices were calculated. Multivariate regression showed that BDNF was independently associated with VAI and non-HDL cholesterol, whereas NGFβ was independently linked to HDL cholesterol and estradiol, highlighting neurotrophin relationships with metabolic and endocrine parameters beyond general adiposity. Correlation heatmap and network analyses demonstrated interconnected clusters linking visceral adiposity, IR, dyslipidemia, adipokine imbalance, and neurotrophins, with the leptin/adiponectin ratio emerging as a central integrative marker. These findings suggest that within a PCOS population, VAI-defined cardiometabolic risk is associated with distinct neurotrophin-adipokine signatures, highlighting neurotrophin-adipokine networks underlying visceral adiposity-driven cardiometabolic and endocrine risk.
BDNF- Dysregulation as a Neurobiological Bridge between Polycystic Ovarian Syndrome and Autism Spectrum Disorder.
Polycystic ovary syndrome (PCOS), a prevalent endocrine disorder characterized by hyperandrogenism, has been increasingly associated with a high risk of autism spectrum disorder (ASD) in offspring. The emerging interaction between reproductive endocrinology and neurodevelopmental biology suggests that excessive androgen exposure during gestation may perturb neurotrophic signaling and impair neural circuit formation. Brain-derived neurotrophic factor (BDNF) acts through tropomyosin receptor kinase B receptor to activate downstream phosphoinositide 3-kinase/protein kinase B and extracellular signal-regulated kinase/mitogen-activated protein kinase pathways, both of which are fundamental to neuronal survival and synaptogenesis. Disruption of these signaling cascades under hyperandrogenic conditions may lead to altered neuroarchitecture, impaired synaptic connectivity, and ASD-like behavioral phenotypes. Clinical and experimental studies also implicate aberrant BDNF expression in ovarian dysfunction, oocyte maturation deficits, and placental steroidogenic imbalance, highlighting a shared endocrine-neurodevelopmental axis in PCOS. Moreover, androgen excess may induce epigenetic modifications and post translational alterations of BDNF or tropomyosin receptor kinases B receptors, further compromising downstream signaling. These molecular events can dysregulate the transcriptional control of multiple synaptic and neurodevelopmental genes, thereby promoting atypical neuronal circuit formation. Understanding the interaction between BDNF signaling and androgen excess provides a mechanistic framework to explain how maternal endocrine imbalance influences neurodevelopment of offspring. This review integrates multidisciplinary findings spanning clinical cohorts, animal models, and molecular studies to delineate how androgen-BDNF interactions amplified by epigenetic, transcriptional, and post translational dysregulation underpin key neurodevelopmental disruptions observed in ASD. Furthermore, it emphasizes the translational potential of targeting BDNF-related pathways as early biomarkers or therapeutic entry points to mitigate the intergenerational neurodevelopmental consequences of PCOS.
Epigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.
Endocrine-disrupting chemicals (EDCs), including bisphenol A (BPA), phthalates, organochlorine pesticides, and heavy metal ions, pose serious threats to reproductive health by interfering with hormonal balance and molecular signaling pathways. Recent research had expanded our understanding of these compounds has beyond their traditional role in hormone receptor interference. EDCs can trigger lasting epigenetic changes, including abnormal DNA methylation, histone modifications, RNA methylation, and altered regulation of non-coding RNA, which can impair reproductive functions such as gametogenesis, folliculogenesis, steroidogenesis, and embryo implantation. Importantly, EDC-mediated epigenetic alterations have been linked to various reproductive disorders, including polycystic ovary syndrome (PCOS), endometriosis, reduced ovarian reserve, and impaired spermatogenesis. For example, BPA exposure alters DNA methylation in estrogen signaling and aromatase gene expression, whereas phthalates disrupt histone acetylation and methylation in hormone synthesis pathways. Similarly, pesticides and heavy metal ions may influence microRNA expression and histone structure, further disrupting endocrine-regulated gene networks. These alterations may occur during sensitive developmental windows and can lead to long-term or transgenerational effects on reproductive health. Understanding how EDCs exert their toxicity through epigenetic mechanisms is essential for early detection of exposure, identification of molecular biomarkers, and development of targeted therapies to reduce reproductive risks. Here, we discuss the emerging molecular evidence that provides a comprehensive overview of how EDCs impair reproductive health through epigenetic pathways, thereby offering a framework for future research and translational applications.
A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.
A novel biallelic missense mutation (c.470A>T) in the STN1 gene is responsible for Coats Plus Syndrome.
Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability. Over 140 proteins localized to primary cilia, which are sensory organelles essential for vertebrate development, are implicated. TMEM17 encodes a transmembrane protein at the ciliary transition zone and was previously proposed as a potential ciliopathy gene, based on reports of individuals from two families with orofaciodigital syndrome type 6 (OFD6) and Joubert syndrome (JS). Here, we report two unrelated fetuses with occipital encephalocele, polydactyly, and kidney cysts, in whom exome sequencing identified a founder homozygous missense variant (Arg94Trp) in TMEM17, affecting a highly conserved residue. This expands the TMEM17-associated phenotypic spectrum to include Meckel syndrome (MKS). Comprehensive functional analyses of all known TMEM17 variants, using patient tissues/cells and a C. elegans model system, demonstrate a loss-of-function mechanism. Our study reveals severe functional consequences, including TMEM17 destabilization and mislocalization, anomalies in cilium composition and function, and abrogation of Sonic Hedgehog signaling. These experiments confirm the pathogenicity of all TMEM17 variants and underscore its essential role at the ciliary transition zone. Collectively, our findings establish TMEM17 as a bona fide ciliopathy gene, associated with a wide phenotypic spectrum ranging from viable syndromes (OFD6 and JS) to a fetal-lethal condition (MKS).
Publicações recentes
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease.
Male-specific late effects in adult hematopoietic cell transplantation recipients: a systematic review from the Late Effects and Quality of Life Working Committee of the Center for International Blood and Marrow Transplant Research and Transplant Complications Working Party of the European Society of Blood and Marrow Transplantation.
🥇 Revisão sistemática📚 EuropePMCmostrando 200
Neurotrophin and Adipokine Signatures Associated with Visceral Adiposity-Driven Cardiometabolic and Endocrine Risk in Polycystic Ovary Syndrome.
International journal of molecular sciencesCircadian rhythm disruption induces PCOS-like phenotypes by interfering with ovarian steroid hormone synthesis pathways.
The Journal of steroid biochemistry and molecular biologyBDNF- Dysregulation as a Neurobiological Bridge between Polycystic Ovarian Syndrome and Autism Spectrum Disorder.
ACS chemical neuroscience[Neuroendocrine regulation of the reproductive system: integration of research of neuropeptide and experimental pathophysiology of amenorrhea of different genesis (literature review)].
Problemy endokrinologiiEpigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.
Frontiers in bioscience (Landmark edition)Phoenixin-14 ameliorates ovarian morphology in a DHEA-induced rat model of PCOS.
Reproduction & fertilityStatus of a lipid accumulation product, triglycerides/ glucose index and visceral adiposity index on cardiometabolic risk factors in young polycystic ovary syndrome patients.
Ceska gynekologieMicrophthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.
CureusNovel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.
Experimental and therapeutic medicineMitochondrial AR overactivation coupled with uterine decidual mitochondrial defects in PCOS-associated pregnancy loss.
The Journal of endocrinologyAndrogen actions in metabolic tissues in polycystic ovary syndrome.
Endocrinology[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].
Journal francais d'ophtalmologieSpinal manifestations of Paget's disease: Case presentation and systematic review.
Brain & spinePoretti-Boltshauser Syndrome in a Toddler: Novel Neuroimaging Features and Clinical Presentation.
CureusEfficacy of Acupuncture in Alleviating Negative Emotions in Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis.
Brain and behaviorA Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.
Clinical geneticsHypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.
Einstein (Sao Paulo, Brazil)Effect of beta-glucan on oxidative stress, inflammation, hormonal and histopathological changes in dehydroepiandrosterone-induced polycystic ovary syndrome.
Biotechnic & histochemistry : official publication of the Biological Stain CommissionPrenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.
BMC medical genomicsNovel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.
Molecular genetics & genomic medicineLeukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.
Rare (Amsterdam, Netherlands)Obesity and infertility: a double whammy.
Current opinion in endocrinology, diabetes, and obesityResting Cerebrovascular Haemodynamics and Dynamic Assessment of Cerebrovascular Function in Polycystic Ovary Syndrome.
Clinical endocrinologyClinical variation in Lowe syndrome: what and how?
Frontiers in cell and developmental biologyChanges in anti-mullerian hormone levels after recovery from functional hypothalamic amenorrhea: a retrospective cohort study about women with and without polycystic ovarian morphology.
Reproductive biology and endocrinology : RB&EHypothalamic RASA1/Ras/AKT/GnRH axis reprogramming mediates GLP-1RA's central rescue of PCOS HPG dysfunction.
Diabetes, obesity & metabolismForebrain AR Deletion Restores PR Expression but not Reproduction in Prenatally Androgenized Female Mice.
EndocrinologyMulti-ancestry genome-wide association analyses of polycystic ovary syndrome.
Nature geneticsTargeting estrogen receptors in PCOS: A receptor-specific framework for neuropsychiatric dysfunction and therapeutic modulation.
Pharmacological researchPolycystic ovary syndrome: Unveiling the multifaceted contributors, mechanisms, and psychological impacts.
Hormones and behaviorPrimary Intraosseous Vascular Malformation in a Child with ELMO2 Mutation: Diagnostic and Dental Management Challenges.
Dentistry journal7p21.1 Microdeletion Encompassing the ACTB Gene in a Japanese Child: Longitudinal Clinical and Neuroimaging Findings.
CureusClinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome.
The British journal of dermatologyModulating metabolism and reproductive health through microbiome driven gut-brain axis therapies.
Microbial pathogenesisNeuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.
Radiology case reportsGut feelings-the gut microbiome as a regulator of mental health in polycystic ovary syndrome.
Fertility and sterilityS2, S3, and S4 Sacral Dermatomal Evoked Potentials: Technical Parameters and Normative Values.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyBobble-head doll syndrome and Suprasellar Arachnoid cyst: A rare experience and systematic literature review.
Neurosurgical reviewPearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.
NeurologyChild Neurology: Clinical and Imaging Findings in a Child With DHX37 Gene Variant: A Ribosomopathy Masquerading as Cerebral Palsy.
NeurologyGlobal prevalence, incidence and years lived with disability of polycystic ovary syndrome highlights disease burden among adolescents.
Reproductive biomedicine onlineThe Hypothalamic Nuclei Implicated in the Regulation of Polycystic Ovary Syndrome: A Review of Its Clinical, Metabolic, and Endocrine Aspects.
Molecules (Basel, Switzerland)Polycystic ovary syndrome: antimüllerian hormone and its role in the pathophysiology of the syndrome.
Fertility and sterilityFull-endoscopic spine surgery for intradural pathologies: A systematic review of innovations, challenges, and future prospects.
Brain & spineMissense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
Clinical geneticsAn Adolescent Football Player With Persistent Headaches Following a Concussion: A Case of Primary Arachnoid Cyst.
CureusExploring 1400 Plasma Metabolites and Polycystic Ovary Syndrome: A Bidirectional Mendelian Randomization Study.
Brain and behaviorEctopic ACTH Secretion Induced by an Olfactory Neuroblastoma: A Case Report.
Case reports in endocrinologyButyric acid ameliorates PCOS-related reproductive dysfunction through gut-brain-ovary axis signaling and ovarian steroidogenic factor activation.
Frontiers in endocrinologyPOLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Gestational anti-Müllerian hormone and testosterone excess combined with maternal adiposity program for polycystic ovary syndrome.
Reproduction (Cambridge, England)Foix-Chavany-Marie syndrome: A rare presentation with arachnoid cyst involvement.
Radiology case reportsPlacental and cerebral circulation in fetuses of mothers with polycystic ovary syndrome and the effect of Metformin exposure.
BMC pregnancy and childbirthNew perspectives on polycystic ovary syndrome: hypothalamic-sympathetic-adipose tissue interaction.
Journal of ovarian researchThe overlooked mental health burden of polycystic ovary syndrome: neurobiological insights into PCOS-related depression.
Frontiers in neuroendocrinologyMicrosurgical pineal cyst fenestration: A safe and effective treatment strategy in patients with symptomatic pineal cyst syndrome.
Acta neurochirurgicaExploring the spectrum of headaches in neurocysticercosis: a systematic review and meta-analysis.
Transactions of the Royal Society of Tropical Medicine and HygienePluchea dioscoridis extract: A novel therapeutic approach for polycystic ovary syndrome targeting ovarian morphology, dopamine pathways, and neurobehavior in relation to its phytocomponents.
PloS oneSirtuins, redox, and metabolic pathways in the brain of female PCOS mice.
Journal of assisted reproduction and genetics[Genetic analysis of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsRodent models of functional hypothalamic amenorrhea: a systematic scoping review.
Frontiers in endocrinologyReduced locomotor activity in an ovarian-intact rat model of PCOS induced by mild exposure to dihydrotestosterone.
The Journal of endocrinologyThe role of lncRNA HUPCOS in androgen metabolism and follicle growth arrest in polycystic ovary syndrome.
Cell biology and toxicologyBrain-Specific Gata4 Downregulation in Greywick Female Mice Models the Metabolic Subtype of Polycystic Ovary Syndrome.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyThe landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.
Italian journal of pediatricsEndoscopic resection of a giant colloid cyst in the cavum septum pellucidum: Illustrative case.
Surgical neurology internationalThe Role of Gut-Brain Tryptophan Metabolism and Fatty Acid Peroxidation in the Effect of Sleep Deprivation on Anxiety and Depression in PCOS Mice.
Molecular neurobiologyEndocrine-disrupting chemicals and female reproductive health: a growing concern.
Nature reviews. EndocrinologyMendelian Randomization Analyses Reveal Causal Relationships between Brain Structural Connectivity and Risk of Polycystic Ovary Syndrome.
Gynecologic and obstetric investigationAutoantibodies Targeting the Hypothalamic-Pituitary-Ovarian Axis in Polycystic Ovary Syndrome: Emerging Key Players in Pathogenesis?
International journal of molecular sciencesUltra-Widefield Swept-Source OCTA Findings in Coats Plus Syndrome.
Ophthalmic surgery, lasers & imaging retinaMetabolic disorders in polycystic ovary syndrome: from gut microbiota biodiversity to clinical intervention.
Frontiers in endocrinologySemaglutide and Taste in Women With Obesity and Polycystic Ovary Syndrome: A Randomized Placebo-Controlled Study.
The Journal of clinical endocrinology and metabolismLong-term effects of metformin on offspring health: A review of current evidence and future directions.
Diabetes, obesity & metabolismFunctional hemispherectomy for seizure control in encephalocraniocutaneous lipomatosis: illustrative case.
Journal of neurosurgery. Case lessonsGnRH ability to release FSH and LH in women with functional hypothalamic amenorrhea: a retrospective cohort study about women with and without polycystic ovarian morphology.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyNeuroendocrine mechanisms responsible for elevated gonadotrophin-releasing hormone and luteinising hormone pulses in polycystic ovary syndrome.
Journal of neuroendocrinologyGut microbiota: a hidden player in polycystic ovary syndrome.
Journal of translational medicineAdipokines level in plasma, hypothalamus, ovaries and adipose tissue of rats with polycystic ovary syndrome.
Reproductive biomedicine onlineNeonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.
JIMD reportsAssessment of Fetal Posterior Fossa Anomalies at 11-13+6 Gestational Weeks in the Midsagittal Cranial Plane by Three-Dimensional Multiplanar Sonography: A Prospective Study.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineGut microbiota in diabetic-linked polycystic ovarian syndrome: Mechanisms and therapeutic insights.
Tissue & cellAn endocrinological perspective on polycystic ovarian syndrome.
Molecular and cellular endocrinologyCongenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome.
VirusesWomen with polycystic ovary syndrome (PCOS): Likelihood of cooccurring neuropsychiatric conditions and the dual hit hypothesis.
Frontiers in neuroendocrinology[Difficulties of differential diagnosis of functional hypothalamic amenorrhea and polycystic ovary syndrome: a systematic review].
Problemy endokrinologiiPOLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Polycystic ovary syndrome: an evolutionary metabolic adaptation.
Reproduction (Cambridge, England)Probiotics ameliorates hypothalamic amenorrhea in a rat model of PCOS.
Metabolic brain diseaseVon Hippel-Lindau syndrome: clinical features, genetic foundations, and management strategies.
Molecular biology reportsFatal toxoplasmic encephalitis triggered by anti-TNF therapy.
HeliyonTailored Callosotomy in Third Ventricle Colloid Cyst Resection via Anterior Interhemispheric Transcallosal Approach.
World neurosurgeryZinner syndrome with seminal vesicles stones: A rare case report and literature review.
International journal of surgery case reportsModulatory impact of Bifidobacterium longum subsp. longum BL21 on the gut-brain-ovary axis in polycystic ovary syndrome: insights into metabolic regulation, inflammation mitigation, and neuroprotection.
mSphereThe Hypothalamus and Pituitary Gland Regulate Reproduction and Are Involved in the Development of Polycystic Ovary Syndrome.
NeuroendocrinologySelected plant extracts and female fertility: role in the regulation of the hypothalamo-pituitary-ovarian axis in normal and pathological conditions.
Reproduction, fertility, and developmentShunt Dependency Syndrome Combined with Sinus Stenosis after Cyst-peritoneal Shunting of Arachnoid Cyst: A 20-year Rare Complication.
NMC case report journalExtensive Inactive Neurocysticercosis: A Case Report in Mbeya, Southern Highlands of Tanzania.
International medical case reports journalNipecotic Acid Ameliorates Letrozole Induced Poly Cystic Ovarian Syndrome in Female Virgin Wistar Rats by Modulating Hypothalamic-Pituitary-Gonadal (HPG) Axis Regulated by GABA.
Reproductive sciences (Thousand Oaks, Calif.)Update on Hypothalamic Inflammation and Gliosis: Expanding Evidence of Relevance Beyond Obesity.
Current obesity reportsGnRH pulse generator activity in mouse models of polycystic ovary syndrome.
eLifePineal cyst in bipolar patient with normolithiaemia and positive fibromyalgic tender points.
Radiology case reportsSystematic low-grade chronic inflammation and intrinsic mechanisms in polycystic ovary syndrome.
Frontiers in immunologyAltered GnRH neuron-glia networks close to interface of polycystic ovary syndrome: Molecular mechanism and clinical perspectives.
Life sciencesMultiple effects of kisspeptin on neuroendocrine, reproduction, and metabolism in polycystic ovary syndrome.
Journal of neuroendocrinologyDecreased neurotensin induces ovulatory dysfunction via the NTSR1/ERK/EGR1 axis in polycystic ovary syndrome.
Frontiers of medicineCase report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.
Obstetric medicineCerebral Hydatidosis in a Lamb.
Veterinary medicine and scienceIdentification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.
European journal of human genetics : EJHGSpontaneous Intracranial Hypotension and Dural Ectasia in Marfan Syndrome: An Illustrative Case Successfully Treated with Steroid Therapy and Literature Review.
Brain sciencesAscorbic acid Mitigates behavioural disturbances associated with letrozole-induced PCOS via switching-off JAK2/STAT5 and JAK2/ERK1/2 pathways in rat hippocampus.
SteroidsProtocol for a randomized comparative effectiveness trial comparing a very low-carbohydrate diet to DASH diet for polycystic ovary syndrome: the SUPER (Supporting Understanding of PCOS Education and Research) trial.
Trials[Disseminated toxoplasmosis confirmed by tachyzoites and cysts in bone marrow smear after cord blood transplantation].
[Rinsho ketsueki] The Japanese journal of clinical hematologyFamilial coaggregation and shared genetic influence between major depressive disorder and gynecological diseases.
European journal of epidemiologyUnveiling the complex interplay between gut microbiota and polycystic ovary syndrome: A narrative review.
Clinical nutrition (Edinburgh, Scotland)Polycystic ovary syndrome and gestational diabetes mellitus association to pregnancy outcomes: A national register-based cohort study.
Acta obstetricia et gynecologica ScandinavicaNovel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings.
Journal of human geneticsSuperior metabolic improvement of polycystic ovary syndrome traits after GLP1-based multi-agonist therapy.
Nature communicationsPotential therapeutic application and mechanism of gut microbiota-derived extracellular vesicles in polycystic ovary syndrome.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieProgressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome.
CureusNeuropeptide Network of Polycystic Ovary Syndrome - A Review.
Protein and peptide lettersThe linking of toxoplasmosis and schizophrenia.
Folia parasitologicaClinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.
Journal of cutaneous pathologyRole of Laparoscopy in Severe Gastrointestinal Bleeding Secondary to Coats Plus Syndrome.
CureusAcetate attenuates hypothalamic pyroptosis in experimentally induced polycystic ovarian syndrome.
BMC research notesArachnoid Cysts in Athletes with Sports-Related Concussion: A Case Series and Literature Review.
Sports medicine - open[Research Progress in the Pathogenesis of Polycystic Ovary Syndrome].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionPterostilbene Ameliorates Cognitive Impairment in Polycystic Ovary Syndrome Rat Model through Improving Insulin Resistance via the IRS-1/PI3K/Akt/GSK-3β Pathway: A Comparative Study with Metformin.
ACS chemical neuroscienceHyperandrogenism Decreases Seizure Threshold in a Rat Model of Polycystic Ovary Syndrome.
NeuroendocrinologyNovel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene.
American journal of ophthalmology case reportsUnraveling Labrune Syndrome: A Case Report on the Neurological Phenotype in SNORD118-Negative Patients.
CureusRisk of Type 2 Diabetes, MASLD and Cardiovascular Disease in People Living With Polycystic Ovary Syndrome.
The Journal of clinical endocrinology and metabolismAmeliorating effects of adropin on letrozole-induced polycystic ovary syndrome via regulating steroidogenesis and the microbiota inflammatory axis in rats.
The Journal of physiologyLeukoencephalopathy with Cerebral Calcifications and Cysts: The Neurosurgical Perspective. Literature Review.
World neurosurgeryLong-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.
Journal of medical geneticsBirt-Hogg-Dubé syndrome presenting with bilateral pneumothorax, skin, kidney, liver, and brain lesions.
Journal of family medicine and primary careBalancing Act: Exploring the Gut Microbiota-Brown Adipose Tissue Axis in PCOS Pathogenesis and Therapeutic Frontiers.
Frontiers in bioscience (Landmark edition)Expression of transforming growth factor β signalling molecules and their correlations with genes in loci linked to polycystic ovary syndrome in human foetal and adult tissues.
Reproduction, fertility, and developmentMesenchymal stem cell-derived apoptotic vesicles ameliorate impaired ovarian folliculogenesis in polycystic ovary syndrome and ovarian aging by targeting WNT signaling.
TheranosticsDysregulated RNA editing of EIF2AK2 in polycystic ovary syndrome: clinical relevance and functional implications.
BMC medicineSex Hormone Treatment for Female Children and Young Adults with Disorders Affecting Hypothalamic, Pituitary, and Ovarian Function.
Hormone research in paediatricsEffect of Sleeve Gastric Surgery on Body Weight and Hypothalamic-Pituitary Axis Hormone Levels in Patients with Polycystic Ovary Syndrome.
Obesity surgeryMenstrual pattern in polycystic ovary syndrome and hypothalamic-pituitary-ovarian axis immaturity in adolescents: a systematic review and meta-analysis.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyStructural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.
Molecular psychiatryIs the MIND diet useful for polycystic ovary syndrome? A case-control study.
BMC women's healthPrenatal Androgen Exposure Induces Anxiety-Like Behavior in Ewes.
NeuroendocrinologyConservative management of multiple odontogenic keratocysts in a child with nevoid basal cell carcinoma syndrome: A case report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryEvaluating the potential of daily intake of polystyrene microplastics via drinking water in inducing PCOS and its ovarian fibrosis progression using female zebrafish.
NanoImpactThe Novel Insight of Gut Microbiota from Mouse Model to Clinical Patients and the Role of NF-κB Pathway in Polycystic Ovary Syndrome.
Reproductive sciences (Thousand Oaks, Calif.)Imaging Feature of Leukoencephalopathy with Calcifications and Cysts (Labrune Syndrome).
World neurosurgeryRole of Anti-Müllerian Hormone in the Central Regulation of Fertility.
Seminars in reproductive medicineAntidiuretic hormone deficiency secondary to inactive hydrocephalus: a case report.
Journal of medical case reportsRole of the gut microbiota and innate immunity in polycystic ovary syndrome: Current updates and future prospects.
Journal of cellular and molecular medicinePsychological symptoms and brain activity alterations in women with PCOS and their relation to the reduced quality of life: a narrative review.
Journal of endocrinological investigationFetal trisomy 18 associated with congenital diaphragmatic hernia, choroid plexus cysts, clenched hands and a maternal origin of the extra chromosome 18.
Taiwanese journal of obstetrics & gynecologyNOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
International journal of molecular sciencesLetrozole induced a polycystic ovary syndrome model in zebrafish by interfering with the hypothalamic-pituitary-gonadal axis.
Environmental pollution (Barking, Essex : 1987)Mechanisms of probiotic modulation of ovarian sex hormone production and metabolism: a review.
Food & functionCase Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.
Cerebellum (London, England)Development and prenatal exposure to androgens alter potassium currents in gonadotropin-releasing hormone neurons from female mice.
Journal of neuroendocrinologyExploring the physiological factors relating to energy balance in women with polycystic ovary syndrome: a scoping review.
Nutrition reviewsAndrogen receptor actions on AgRP neurons are not a major cause of reproductive and metabolic impairments in peripubertally androgenized mice.
Journal of neuroendocrinologyA case report of cerebellar hemangioblastoma simulated brain metastasis shown by magnetic resonance imaging.
MedicineMFSD7c functions as a transporter of choline at the blood-brain barrier.
Cell researchAssociations of Polycystic Ovary Syndrome With Indicators of Brain Health at Midlife in the CARDIA Cohort.
NeurologyDihydrotestosterone induces arterial stiffening in female mice.
Biology of sex differencesGut Microbiome and Polycystic Ovary Syndrome: Interplay of Associated Microbial-Metabolite Pathways and Therapeutic Strategies.
Reproductive sciences (Thousand Oaks, Calif.)Navigating the complexities of encephalocraniocutaneous lipomatosis: a case series and review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryTroxerutin dampened hypothalamic neuroinflammation via microglial IL-22/IL-22R1/IRF3 activation in dihydrotestosterone-induced polycystic ovary syndrome rats.
Phytomedicine : international journal of phytotherapy and phytopharmacologyElevated circulating adiponectin levels do not prevent anxiety-like behavior in a PCOS-like mouse model.
Scientific reportsThe 1 μg Synacthen stimulation test in the diagnosis of secondary adrenal insufficiency in patients with Rathke's cleft cyst and empty sella syndrome.
Endokrynologia PolskaColloid Cyst of the Third Ventricle: A Case Report.
Acta medica (Hradec Kralove)Congenital High Airway Obstructive Syndrome (CHAOS) Survival of a Newborn with Laryngeal Atresia.
Diagnostics (Basel, Switzerland)Metabolic hormones are integral regulators of female reproductive health and function.
Bioscience reportsExploration of the pathogenesis of polycystic ovary syndrome based on gut microbiota: A review.
MedicineSudden death in patients with pineal cyst: Evidence from autopsy studies.
Journal of neurosciences in rural practiceCoats Plus Syndrome Presenting in an Adult.
Journal of vitreoretinal diseasesThe effect of calorie-restriction along with thylakoid membranes of spinach on the gut-brain Axis Pathway and oxidative stress biomarkers in obese women with polycystic ovary syndrome: a Randomized, Double-blind, placebo-controlled clinical trial.
Journal of ovarian research[Genetic diffuse cystic lung disease in adults].
Revue des maladies respiratoiresPrenatal Magnetic Resonance Imaging helps Discover Cerebellar Dysplasia or Malformations in Foetuses.
Current medical imagingOveractivation of GnRH neurons is sufficient to trigger polycystic ovary syndrome-like traits in female mice.
EBioMedicineImaging of congenital and developmental cystic lesions of the brain: a narrative review.
Expert review of neurotherapeuticsAn imaging review of the hippocampus and its common pathologies.
Journal of neuroimaging : official journal of the American Society of NeuroimagingVon Hippel Lindau Disease with central nervous system and multiple visceral manifestations: A case report.
Radiology case reportsImpose of KNDy/GnRH neural circuit in PCOS, ageing, cancer and Alzheimer's disease: StAR actions in prevention of neuroendocrine dysfunction.
Ageing research reviewsCase report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab.
Frontiers in neurologyNeoadjuvant photodynamic therapy as a therapeutic alternative in multiple basal cell carcinoma induced by radiotherapy.
Photodiagnosis and photodynamic therapyA Case Report of Pseudotumor Cerebri Syndrome with a Huge Retroperitoneal Cyst.
Medicina (Kaunas, Lithuania)Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.
GenesThe impact of diabetes and obesity on fertility and the potential role of gut hormones as treatment.
Diabetic medicine : a journal of the British Diabetic AssociationOccult extracranial malignancy after complete remission of pineal mixed germ cell tumors: a rare case report and literature review.
BMC pediatricsSuppression of hypothalamic-pituitary-gonadal function by linzagolix in benign prostatic hyperplasia and polycystic ovary syndrome animal models.
Clinical and experimental pharmacology & physiologyA de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature.
Frontiers in pediatricsDandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.
AJNR. American journal of neuroradiologyDeep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Journal of medical geneticsNetwork pharmacology-based strategic prediction and target identification of apocarotenoids and carotenoids from standardized Kashmir saffron (Crocus sativus L.) extract against polycystic ovary syndrome.
MedicineTranscriptome analysis identification of A-to-I RNA editing in granulosa cells associated with PCOS.
Frontiers in endocrinologyNovel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome.
Journal of ovarian researchBenign Brain and Spinal Tumors Originating from Bone or Cartilage.
Advances in experimental medicine and biologyTumoral parkinsonism-Parkinsonism secondary to brain tumors, paraneoplastic syndromes, intracranial malformations, or oncological intervention, and the effect of dopaminergic treatment.
Brain and behaviorDecreased role of neuropeptides in the microvascular function in migraine patients with polycystic ovary syndrome.
AtherosclerosisPreclinical pharmacokinetics of 4-hydroxy isoleucine using LC-MS/MS: a potential polycystic ovary syndrome phytopharmaceutical therapeutics.
BioanalysisAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Neurotrophin and Adipokine Signatures Associated with Visceral Adiposity-Driven Cardiometabolic and Endocrine Risk in Polycystic Ovary Syndrome.
- BDNF- Dysregulation as a Neurobiological Bridge between Polycystic Ovarian Syndrome and Autism Spectrum Disorder.
- Epigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.
- A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.
- Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
- Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease.
- Male-specific late effects in adult hematopoietic cell transplantation recipients: a systematic review from the Late Effects and Quality of Life Working Committee of the Center for International Blood and Marrow Transplant Research and Transplant Complications Working Party of the European Society of Blood and Marrow Transplantation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2081(Orphanet)
- MONDO:0016161(MONDO)
- GARD:1206(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785985(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
