Raras
Buscar doenças, sintomas, genes...
NÃO RARA NA EUROPA: Obesidade não rara
ORPHA:521399DOENÇA RARA

Um distúrbio que envolve uma quantidade excessiva de gordura corporal.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Um distúrbio que envolve uma quantidade excessiva de gordura corporal.

🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

📏
Crescimento
23 sintomas
🧠
Neurológico
8 sintomas
🦴
Ossos e articulações
5 sintomas
🫘
Rins
4 sintomas
🫃
Digestivo
3 sintomas
❤️
Coração
3 sintomas

+ 35 sintomas em outras categorias

Características mais comuns

Aumento da concentração de colesterol LDL
Hipotensão ortostática devido a disfunção autonômica
Déficit de crescimento
Insuficiência adrenal central
Obesidade troncular de início na infância
Maturação esquelética atrasada
87sintomas
Sem dados (87)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 87 características clínicas mais associadas, ordenadas por frequência.

Aumento da concentração de colesterol LDLIncreased LDL cholesterol concentration
Hipotensão ortostática devido a disfunção autonômicaOrthostatic hypotension due to autonomic dysfunction
Déficit de crescimentoFailure to thrive
Insuficiência adrenal centralCentral adrenal insufficiency
Obesidade troncular de início na infânciaChildhood-onset truncal obesity

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos151publicações
Pico202125 papers
Linha do tempo
20202015Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

16 genes identificados com associação a esta condição.

LEPRLeptin receptorDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Receptor for hormone LEP/leptin (Probable) (PubMed:22405007). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitar

LOCALIZAÇÃO

Cell membraneBasolateral cell membraneSecreted

VIAS BIOLÓGICAS (1)
Signaling by Leptin
MECANISMO DE DOENÇA

Leptin receptor deficiency

A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
24.9 TPM
Ovário
16.1 TPM
Pulmão
13.2 TPM
Mama
12.9 TPM
Útero
11.9 TPM
OUTRAS DOENÇAS (1)
obesity due to leptin receptor gene deficiency
HGNC:6554UniProt:P48357
SDC3Syndecan-3Candidate gene tested inTolerante
FUNÇÃO

Cell surface proteoglycan that may bear heparan sulfate (By similarity). May have a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Glycosaminoglycan-protein linkage region biosynthesis
EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
131.2 TPM
Brain Nucleus accumbens basal ganglia
106.9 TPM
Nervo tibial
100.1 TPM
Cólon sigmoide
98.5 TPM
Baço
89.5 TPM
OUTRAS DOENÇAS (1)
inherited obesity
HGNC:HGNC:10660UniProt:O75056
ENPP1Ectonucleotide pyrophosphatase/phosphodiesterase family member 1Candidate gene tested inTolerante
FUNÇÃO

Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by binding to nascent hydroxyapatite crystals, thereby preventing further growth of these crystals (PubMed:11004006). Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5' triphosphates such as GTP, CTP and UTP to their corresponding mono

LOCALIZAÇÃO

Cell membraneBasolateral cell membraneSecreted

VIAS BIOLÓGICAS (2)
Vitamin B5 (pantothenate) metabolismVitamin B2 (riboflavin) metabolism
MECANISMO DE DOENÇA

Ossification of the posterior longitudinal ligament of the spine

A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
42.3 TPM
Tireoide
26.5 TPM
Aorta
22.2 TPM
Pituitária
22.0 TPM
Fígado
19.8 TPM
OUTRAS DOENÇAS (8)
hypophosphatemic rickets, autosomal recessive, 2hypopigmentation-punctate palmoplantar keratoderma syndromearterial calcification, generalized, of infancy, 1autosomal recessive inherited pseudoxanthoma elasticum
HGNC:3356UniProt:P22413
CARTPTCocaine- and amphetamine-regulated transcript proteinCandidate gene tested inModerado
FUNÇÃO

Satiety factor closely associated with the actions of leptin and neuropeptide Y; this anorectic peptide inhibits both normal and starvation-induced feeding and completely blocks the feeding response induced by neuropeptide Y and regulated by leptin in the hypothalamus. It promotes neuronal development and survival in vitro

LOCALIZAÇÃO

Secreted

OUTRAS DOENÇAS (1)
inherited obesity
HGNC:HGNC:24323UniProt:Q16568
AGRPAgouti-related proteinCandidate gene tested inTolerante
FUNÇÃO

Signaling protein that functions as an antagonist of melanocyte-stimulating-hormone receptors MC3R and MC4R by precluding agonist-induced signaling, thereby inhibiting cAMP production within the hypothalamus and adrenal gland (PubMed:10371151, PubMed:11145747, PubMed:9311920, PubMed:9892020). Involved in the control of feeding behavior via the central melanocortin system (PubMed:15927146, PubMed:9311920). Has very low activity towards MC5R (PubMed:9311920, PubMed:9892020). Also promotes endocyto

LOCALIZAÇÃO

SecretedGolgi apparatus lumen

VIAS BIOLÓGICAS (1)
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
MECANISMO DE DOENÇA

Obesity

A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.

OUTRAS DOENÇAS (1)
inherited obesity
HGNC:HGNC:330UniProt:O00253
GHRLAppetite-regulating hormoneCandidate gene tested inTolerante
FUNÇÃO

Precursor of the appetite-regulating peptide ghrelin, including ghrelin-27 and ghrelin-28 Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR) (PubMed:10604470, PubMed:35027551). Induces the release of growth hormone from the pituitary (PubMed:10604470). Has an appetite-stimulating effect, induces adiposity and stimulates gastric acid secretion. Involved in growth regulation Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR) (PubMed:10604470, Pub

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Synthesis, secretion, and deacylation of Ghrelin
EXPRESSÃO TECIDUAL(Tecido-específico)
Estômago
143.5 TPM
Baço
3.0 TPM
Tireoide
2.7 TPM
Nervo tibial
1.9 TPM
Sangue
1.7 TPM
OUTRAS DOENÇAS (1)
inherited obesity
HGNC:HGNC:18129UniProt:Q9UBU3
ADRB3Beta-3 adrenergic receptorCandidate gene tested inTolerante
FUNÇÃO

G protein-coupled receptor for catecholamines that couples to both G(s) and G(i) proteins, leading to either activation or inhibition of adenylate cyclase and cAMP-dependent pathway, respectively (PubMed:10188996, PubMed:2570461, PubMed:8641219). The rank order of potency for physiological agonists is norepinephrine > epinephrine (PubMed:10188996, PubMed:2570461, PubMed:8641219). Involved in the regulation of thermogenesis and lipolysis in brown and white adipose tissue, after coupling to G(s) p

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (2)
G alpha (s) signalling eventsAdrenoceptors
OUTRAS DOENÇAS (1)
inherited obesity
HGNC:HGNC:288UniProt:P13945
UCP3Putative mitochondrial transporter UCP3Candidate gene tested inTolerante
FUNÇÃO

Putative transmembrane transporter that plays a role in mitochondrial metabolism via an as yet unclear mechanism (PubMed:21775425, PubMed:36114012). Originally, this mitochondrial protein was thought to act as a proton transmembrane transporter from the mitochondrial intermembrane space into the matrix, causing proton leaks through the inner mitochondrial membrane, thereby uncoupling mitochondrial membrane potential generation from ATP synthesis (PubMed:11171965, PubMed:12670931, PubMed:12734183

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (1)
The fatty acid cycling model
MECANISMO DE DOENÇA

Obesity

A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
145.5 TPM
Testículo
6.8 TPM
Cerebelo
6.4 TPM
Cérebro - Hemisfério cerebelar
5.6 TPM
Tireoide
3.7 TPM
OUTRAS DOENÇAS (1)
inherited obesity
HGNC:HGNC:12519UniProt:P55916
MC4RMelanocortin receptor 4Candidate gene tested inTolerante
FUNÇÃO

G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha- and beta-MSH) and corticotropin/ACTH, which are peptide products of the POMC precursor (PubMed:12646665, PubMed:14764818, PubMed:25163632, PubMed:32327598, PubMed:33858992, PubMed:8392067). Functions as a central component of the leptin-melanocortin pathway, which is essential for maintaining energy homeostasis (PubMed:32327598, PubMed:33858992). Upon activation, couples to G(s) protein, stimulating adenylate cyclase a

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (3)
G alpha (s) signalling eventsPeptide ligand-binding receptorsTranscriptional and post-translational regulation of MITF-M expression and activity
MECANISMO DE DOENÇA

Obesity

A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.

EXPRESSÃO TECIDUAL(Baixa expressão)
Hipotálamo
3.2 TPM
Brain Caudate basal ganglia
2.4 TPM
Brain Putamen basal ganglia
1.8 TPM
Brain Anterior cingulate cortex BA24
1.7 TPM
Brain Frontal Cortex BA9
1.5 TPM
OUTRAS DOENÇAS (1)
obesity due to melanocortin 4 receptor deficiency
HGNC:6932UniProt:P32245
SIM1Single-minded homolog 1Candidate gene tested inAltamente restrito
FUNÇÃO

Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult

LOCALIZAÇÃO

Nucleus

EXPRESSÃO TECIDUAL(Tecido-específico)
Fibroblastos
6.0 TPM
Rim - Medula
5.8 TPM
Rim - Córtex
3.4 TPM
Tecido adiposo
3.0 TPM
Pâncreas
0.9 TPM
OUTRAS DOENÇAS (3)
obesity due to SIM1 deficiencySIM1-related Prader-Willi-like syndrome6q16 deletion syndrome
HGNC:10882UniProt:P81133
POMCPro-opiomelanocortinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Precursor protein of pituitary hormones that are involved in diverse physiological processes, including the regulation of energy balance, stress response, immune function and skin pigmentation Functions as a ligand for the melanocortin receptors MC1R, MC2R, MC3R and MC5R (PubMed:8396929, PubMed:8463333, PubMed:8636348). Activation of MC1R increases melanogenesis in melanocytes found in the skin and hair (PubMed:9620771). Binding to MC2R stimulates the adrenal glands to secrete cortisol (PubMed:8

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Peptide hormone biosynthesis
MECANISMO DE DOENÇA

Obesity

A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.

EXPRESSÃO TECIDUAL(Ubíquo)
Pituitária
29208.2 TPM
Testículo
41.1 TPM
Glândula adrenal
9.1 TPM
Linfócitos
9.0 TPM
Baço
7.9 TPM
OUTRAS DOENÇAS (2)
obesity due to pro-opiomelanocortin deficiencyinherited obesity
HGNC:9201UniProt:P01189
CEP19Centrosomal protein of 19 kDaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Required for ciliation (PubMed:28428259, PubMed:28625565, PubMed:28659385). Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28428259, PubMed:28625565). Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CV

LOCALIZAÇÃO

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centrioleCytoplasm, cytoskeleton, spindle poleCytoplasm, cytoskeleton, cilium basal body

VIAS BIOLÓGICAS (7)
Recruitment of mitotic centrosome proteins and complexesLoss of proteins required for interphase microtubule organization from the centrosomeLoss of Nlp from mitotic centrosomesRegulation of PLK1 Activity at G2/M TransitionAURKA Activation by TPX2
MECANISMO DE DOENÇA

Morbid obesity and spermatogenic failure

An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40.

VIAS REACTOME (1)
INTERAÇÕES PROTEICAS (4)
OUTRAS DOENÇAS (2)
obesity due to CEP19 deficiencyBardet-Biedl syndrome
HGNC:28209UniProt:Q96LK0
PCSK1Neuroendocrine convertase 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin, insulin and AGRP

LOCALIZAÇÃO

Cytoplasmic vesicle, secretory vesicle

VIAS BIOLÓGICAS (5)
Synthesis, secretion, and deacylation of GhrelinSynthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)Peptide hormone biosynthesisInsulin processingSynthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
MECANISMO DE DOENÇA

Proprotein convertase 1 deficiency

Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.

EXPRESSÃO TECIDUAL(Tecido-específico)
Hipotálamo
22.3 TPM
Brain Frontal Cortex BA9
21.1 TPM
Pituitária
19.7 TPM
Córtex cerebral
11.0 TPM
Brain Anterior cingulate cortex BA24
6.4 TPM
OUTRAS DOENÇAS (1)
obesity due to prohormone convertase I deficiency
HGNC:8743UniProt:P29120
NR0B2Nuclear receptor subfamily 0 group B member 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Transcriptional regulator that acts as a negative regulator of receptor-dependent signaling pathways (PubMed:22504882). Specifically inhibits transactivation of the nuclear receptor with which it interacts (PubMed:22504882). Inhibits transcriptional activity of NEUROD1 on E-box-containing promoter by interfering with the coactivation function of the p300/CBP-mediated transcription complex for NEUROD1 (PubMed:14752053). Essential component of the liver circadian clock which via its interaction wi

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (1)
Nuclear Receptor transcription pathway
MECANISMO DE DOENÇA

Obesity

A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
74.6 TPM
Estômago
25.7 TPM
Glândula adrenal
20.0 TPM
Pâncreas
16.8 TPM
Baço
15.2 TPM
OUTRAS DOENÇAS (1)
inherited obesity
HGNC:HGNC:7961UniProt:Q15466
PPARGPeroxisome proliferator-activated receptor gammaDisease-causing germline mutation(s) inModerado
FUNÇÃO

Ligand-activated transcription factor that forms obligate heterodimers with the retinoic acid receptor and acts as a key regulator of biological processes, such as adipocyte differentiation, lipid metabolism, glucose homeostasis and beta-oxidation of fatty acids (PubMed:16150867, PubMed:20829347, PubMed:23525231, PubMed:8702406, PubMed:8706692, PubMed:9065481). Activated by lipid ligands: binds peroxisome proliferators, such as hypolipidemic drugs, and fatty acids, such as prostaglandin J2 metab

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (7)
Regulation of PTEN gene transcriptionTranscriptional regulation of white adipocyte differentiationPPARA activates gene expressionMECP2 regulates transcription factorsNuclear Receptor transcription pathway
EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
111.2 TPM
Adipose Visceral Omentum
100.8 TPM
Mama
71.3 TPM
Cólon transverso
21.6 TPM
Fibroblastos
20.4 TPM
OUTRAS DOENÇAS (6)
type 2 diabetes mellitusPPARG-related familial partial lipodystrophyinherited obesitygliosarcoma
HGNC:9236UniProt:P37231
LEPLeptinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways (PubMed:15899045, PubMed:17344214, PubMed:19688109). In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigeni

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (4)
Synthesis, secretion, and deacylation of GhrelinSynthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)Signaling by LeptinTranscriptional regulation of white adipocyte differentiation
MECANISMO DE DOENÇA

Leptin deficiency

A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age.

EXPRESSÃO TECIDUAL(Tecido-específico)
Tecido adiposo
198.8 TPM
Adipose Visceral Omentum
55.4 TPM
Mama
38.4 TPM
Fibroblastos
5.5 TPM
Artéria coronária
3.5 TPM
OUTRAS DOENÇAS (1)
obesity due to congenital leptin deficiency
HGNC:6553UniProt:P41159

Variantes genéticas (ClinVar)

223 variantes patogênicas registradas no ClinVar.

🧬 LEPR: NM_002303.6(LEPR):c.1846del (p.Arg615_Leu616insTer) ()
🧬 LEPR: NM_002303.6(LEPR):c.2396-2A>C ()
🧬 LEPR: NM_002303.6(LEPR):c.359_360del (p.Phe120fs) ()
🧬 LEPR: GRCh37/hg19 1p31.3-22.3(chr1:61397219-85940743)x1 ()
🧬 LEPR: GRCh37/hg19 1p31.3-21.3(chr1:65412037-95735764)x1 ()
Ver todas no ClinVar

Vias biológicas (Reactome)

49 vias biológicas associadas aos genes desta condição.

Signaling by Leptin Glycosaminoglycan-protein linkage region biosynthesis HS-GAG biosynthesis HS-GAG degradation Cell surface interactions at the vascular wall Syndecan interactions Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective EXT2 causes exostoses 2 Defective EXT1 causes exostoses 1, TRPS2 and CHDS Defective B3GALT6 causes EDSP2 and SEMDJL1 Attachment and Entry Retinoid metabolism and transport Respiratory syncytial virus (RSV) attachment and entry RSV-host interactions Dengue Virus-Host Interactions Dengue Virus Attachment and Entry Vitamin B2 (riboflavin) metabolism Vitamin B5 (pantothenate) metabolism FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes Peptide ligand-binding receptors G alpha (q) signalling events Synthesis, secretion, and deacylation of Ghrelin Adrenoceptors G alpha (s) signalling events The fatty acid cycling model Transcriptional and post-translational regulation of MITF-M expression and activity Transcriptional Regulation by MECP2 Opioid Signalling Androgen biosynthesis Glucocorticoid biosynthesis G-protein activation Peptide hormone biosynthesis Endogenous sterols G alpha (i) signalling events Defective ACTH causes obesity and POMCD Interleukin-4 and Interleukin-13 signaling CEP192 Insulin processing Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) Nuclear Receptor transcription pathway PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation SUMOylation of intracellular receptors Regulation of PTEN gene transcription MECP2 regulates transcription factors MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Transcriptional regulation of brown and beige adipocyte differentiation by EBF2

Diagnóstico

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Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — NÃO RARA NA EUROPA: Obesidade não rara

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Being overindebted and overweight in Switzerland - A largely unexplored association in an understudied population.

PloS one2026

Research on overindebtedness in general and on the relationship between overindebtedness and being overweight or obese in particular is extremely rare or practically nonexistent although both phenomena have shown an increasing trend in recent years and are expected and found to be more prevalent among lower social classes and educational levels. However, no such study for Switzerland has ever been conducted until now. Survey data collected in 2019 from 219 overindebted adult clients of four official debt advisory centers in the Canton of Zurich were used and linked with a sample of 1,997 respondents of the Swiss Health Survey 2017 of the same age and canton of residence. The entire study population included a total of 2,216 adult individuals. Contingency tables with relative frequencies were calculated to study differences between the two subsamples. Furthermore, logistic and Poisson regression analyses were performed to calculate unadjusted and multiple-adjusted odds ratios and risk ratios as proxies and measures for the relative risk of being overweight or obese among overindebted people. The prevalence rates of being overweight and having a body mass index (BMI) of 25+ and particularly of being obese (BMI of 30+) were significantly higher among overindebted individuals (BMI ≥ 25: 46%, BMI ≥ 30: 15%) than predominantly non-overindebted people (BMI ≥ 25: 38%, BMI ≥ 30: 9%). Overindebtedness increased the odds or the relative risk for such unfavourable body weights by 20% to 36% (overweight) and by 59% to 70% (obesity) depending on the effect measure considered. This was found regardless of overindebted individuals' sex, age and educational level and independent of the fact that they have a comparably very low sense of control, feel lonely much more often and show much more often moderate to severe depressive symptoms. Measures of effect or association found were statistically significant at least for obesity, but smaller than expected and somewhat under- and simultaneously overestimated in view of the younger average age and the lower educational level of the overindebted individuals.

#2

Generalized Pustular Psoriasis: Current Treatment and Innovative Therapies.

Cureus2026 Feb

Generalized pustular psoriasis (GPP) is a rare, life-threatening auto-inflammatory disease driven by IL-36 pathway dysregulation leading to recurrent flares of widespread erythema, sterile pustules, and systemic symptoms. Real-world data on spesolimab - the first U.S. Food and Drug Administration (FDA)/European Medicines Agency (EMA)-approved GPP therapy - remains scarce, particularly outside Europe. We performed a retrospective case series with prospective follow-up (2010-2025) following Consensus-based Clinical Case Reporting (CARE) guidelines. Nine patients diagnosed according to European Rare and Severe Psoriasis Expert Network (ERASPEN) criteria by board-certified dermatologists were included. Data on demographics, triggers, clinical features, complications, and treatments were collected from electronic medical records. Nine patients (100%) aged 3-61 years, including five (55.6%) female patients, were included. Obesity was the most common comorbidity (n=6, 66.7%). Steroid withdrawal was the most common trigger (n=5, 55.6%). All patients presented with generalized erythema, sterile pustules, and pain; complications observed were acute respiratory distress syndrome (ARDS) in two patients (22.2%) and acute cholangitis in one patient (11.1%). Six flares required inpatient care. Spesolimab achieved 100% flare-free status at 12 months versus 50-75% recurrence with non-IL-36 agents. A tiered treatment algorithm was proposed, prioritizing rapid IL-36 blockade in severe flares. This largest Latin American GPP cohort reveals an earlier onset in pediatric patients and high complication rates. Spesolimab shows superior flare control, but access barriers persist. Standardized protocols and genetic studies in diverse populations are urgently needed.

#3

Defining the external exposome of newborns from La Palma Island, Spain: characteristics of realistic mixtures and its role on Precision Public Health.

International journal of hygiene and environmental health2026 Apr

The exposome framework provides an integrative perspective to characterize real-life exposures beyond single-chemical assessments. However, evidence on perinatal exposomes in non-urban populations is limited, particularly regarding pollutant mixtures and their contribution to adverse birth outcomes. We conducted a population-based cross-sectional study including 471 neonates from La Palma (Spain). A total of 106 pollutants were quantified in cord blood using validated methods. Exposures encompassed essential elements, toxic metals, prioritized pollutants, emerging elements, organochlorine pesticides (OCPs), polychlorinated biphenyls (PCBs), and polycyclic aromatic hydrocarbons (PAHs), grouped into seven categories. Statistical analyses included descriptive statistics, correlation matrices, principal component analysis (PCA), and network visualization, stratified by sex, birthweight, and maternal smoking. Essential elements (Se, Zn, Cu, Mn) were detected in all samples, whereas emerging rare earth elements showed lower prevalence. PCA highlighted distinct exposure profiles, with PAHs and OCPs explaining the highest variance. Maternal smoking strongly influenced clustering: small for gestational age neonates from smoking mothers displayed a specific mixture of PAHs, OCPs, low-chlorinated PCBs, and Pb, contrasting with neonates of appropriate or large for gestational age. Network analyses revealed four main pollutant clusters, diverging from the seven predefined chemical groups and reflecting real-world mixtures shaped by common sources. Emerging pollutants, including rare earth elements and metals from electronic waste, formed a separate cluster. Exposome-based approaches can characterize neonatal exposure mixtures, reveal modifiable patterns, and inform targeted interventions within Precision Public Health. These findings underscore the need to mitigate maternal smoking and address emerging contaminant exposures in perinatal populations.

#4

Occupational determinants of Long COVID in the population-based COVICAT cohort.

Occupational and environmental medicine2026 Feb 12

Occupational factors affect SARS-CoV-2 infection risk, but the occupational factors associated with Long COVID (LC) are unknown. We aimed to address this issue using individual data in a population-based cohort. In the prospective COVICAT study, 2020-2023, Catalonia, Spain, we examined the association between occupational determinants and LC. Among subjects with previous SARS-CoV-2 infection, those employed in the pandemic and with occupational information were analysed. Different metrics, including four job-exposure matrices, were used to evaluate individual occupational risk factors for LC (postinfection symptoms ≥3 months). Poisson models were used to estimate adjusted risk ratios (RRs) and 95% CIs. Among 2054 workers (1308 women, 746 men) aged 40-69 years, 486 developed LC (23.7%). Workers in jobs at high COVID-19 risk according to all metrics including health/social care, education, retail, transport and security showed higher LC risk. The main drivers of increased risk were close contact with colleagues and the public (RR up to 1.50; 95% CI 1.18 to 1.91), no social distance at workplace (up to 1.46; 95% CI 1.16 to 1.84), rare or no use of facemask (1.41; 95% CI 1.09 to 1.83) and commute by public transport (1.58; 95% CI 1.20 to 2.08). Working on-site during the pandemic was also associated with a higher LC risk compared with teleworking (1.57; 95% CI 1.19 to 2.09). Individual non-occupational risk factors for LC included female sex, comorbidities, obesity, number and severity of acute infections; vaccination and older age were protective. In a population-based cohort, several occupational factors increased LC risk. Focused preventive strategies are warranted to avoid the associated public health burden. LC should be recognised and compensated as an occupational disease.

#5

Exploring endometrial cancer in premenopausal women-A nationwide PremEnCa cohort study.

Acta obstetricia et gynecologica Scandinavica2026 Jan

An increased incidence of endometrial cancer has been noted, especially in premenopausal women in countries with rapid socioeconomic transition. In one of the largest patient cohorts of women ≤50 years, with manually validated register data, we aim to examine the pattern of disease of endometrial cancer and to evaluate the prognosis according to tumor and patient characteristics, focusing on body mass index. This is a nationwide population-based study on women ≤50 years with endometrial cancer, 2010-2021, using data from Swedish registries complemented by the reviewing of medical records. Overall survival and disease-free survival were calculated by the Kaplan-Meier method and the log-rank test. Multivariable regression analyses were performed. Of the total endometrial cancer cohort, 797 (5%) patients were ≤50 years of age (the PremEnCa cohort) with 0.9% under 40 years of age. Women ≤50 years of age had a higher prevalence of stage IA and endometrioid histology than older women. Among women ≤50 years of age, 46% met the criteria for obesity. No associations between socioeconomic factors and stage at diagnosis were found. Notably, women with lower Body Mass Index <20, had a higher proportion of non-endometrioid histology and higher stage of disease at the time of diagnosis. Median follow-up time was 4.2 (IOR 1.9-5.4) years. The recurrence rate was 6.1% in the PremEnCa cohort during the follow-up period, and the 5-year overall survival was 94.6% (95% CI: 92.6-96.0) for endometrioid and 68.5% (95% CI: 51.1-80.8) for non-endometrioid endometrial cancer. Only 36 of the 74 deaths were caused by endometrial cancer. In adjusted analyses for disease-free survival, non-endometrioid histology and International Federation of Gynecology and Obstetrics (FIGO) stage were associated with worse prognosis. Endometrial cancer in premenopausal women is very rare and is associated with an excellent prognosis. Histology and FIGO stage were the strongest prognostic factors. Half of the deaths were due to other causes, which emphasizes the importance of focusing on general health aspects in this young endometrial cancer population.

Publicações recentes

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📚 EuropePMCmostrando 151

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Generalized Pustular Psoriasis: Current Treatment and Innovative Therapies.

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PloS one
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Defining the external exposome of newborns from La Palma Island, Spain: characteristics of realistic mixtures and its role on Precision Public Health.

International journal of hygiene and environmental health
2026

Occupational determinants of Long COVID in the population-based COVICAT cohort.

Occupational and environmental medicine
2026

Exploring endometrial cancer in premenopausal women-A nationwide PremEnCa cohort study.

Acta obstetricia et gynecologica Scandinavica
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Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.

Nature communications
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Danish medical journal
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Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
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BJS open
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PloS one
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Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025.

Annales d'endocrinologie
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Italian guidelines for the management of adult individuals with primary hypothyroidism outside pregnancy.

Journal of endocrinological investigation
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Polycystic ovary syndrome and the risk of ovarian tumours.

Gynecologic oncology
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Prevalence of chronic kidney disease in France - The constances cohort.

BMC nephrology
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Central Precocious Puberty and Psychiatric Disorders.

JAMA network open
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European journal of epidemiology
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Economics of hypothalamic obesity in patients with craniopharyngioma and other rare sellar/suprasellar tumors.

The European journal of health economics : HEPAC : health economics in prevention and care
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Characterising acute and chronic care needs: insights from the Global Burden of Disease Study 2019.

Nature communications
2025

Early childhood height, weight, and BMI development in children with monogenic obesity: a European multicentre, retrospective, observational study.

The Lancet. Child &amp; adolescent health
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COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet.

Orphanet journal of rare diseases
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Schweizer Archiv fur Tierheilkunde
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Safety and effectiveness in an uncontrolled setting of glucagon-like-peptide-1 receptor agonists in patients with familial partial lipodystrophy: Real-life experience from a national reference network.

Diabetes, obesity &amp; metabolism
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Treatment of patients with tumor/treatment-related hypothalamic obesity in the first two years following surgical treatment or radiotherapy.

Scientific reports
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Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk.

Pigment cell &amp; melanoma research
2025

Survey on vitamin D supplementation in children in France: Evaluation of real-life practices following the new 2022 French recommendations.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2024

Hypothalamic obesity: Epidemiology in rare sellar/suprasellar tumors-A German claims database analysis.

Journal of neuroendocrinology
2024

Gastrointestinal effects of GLP-1 receptor agonists: mechanisms, management, and future directions.

The lancet. Gastroenterology &amp; hepatology
2024

Impact of obesity after cytoreductive surgery and intraperitoneal hyperthermic chemotherapy for rare peritoneal malignancies: Paradox of obesity or poor prognostic factor?

European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology
2024

Geographic variation of mutagenic exposures in kidney cancer genomes.

Nature
2024

Burden of selected chronic non-communicable diseases in a primary healthcare setting in Nuuk, Greenland, compared to a Danish suburb.

Scandinavian journal of primary health care
2024

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023.

Annales d'endocrinologie
2024

Use of Remdesivir in children with COVID-19: report of an Italian multicenter study.

Italian journal of pediatrics
2024

High Prevalence of Long COVID in Common Variable Immunodeficiency: An Italian Multicentric Study.

Journal of clinical immunology
2024

Oligogenic inheritance in severe adult obesity.

International journal of obesity (2005)
2024

Parental practices and children's lifestyle correlates of childhood overweight/obesity in Europe: The Feel4Diabetes study.

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association
2023

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

Frontiers in endocrinology
2024

Incidence and predictors of hepatocellular carcinoma in patients with autoimmune hepatitis.

Journal of hepatology
2023

A Comparison of the Periprosthetic Fracture Rate of Unicompartmental and Total Knee Replacements: An Analysis of Data of >100,000 Knee Replacements from the National Joint Registry for England, Wales, Northern Ireland and the Isle of Man and Hospital Episode Statistics.

The Journal of bone and joint surgery. American volume
2023

National UK guidelines for the management of paediatric craniopharyngioma.

The lancet. Diabetes &amp; endocrinology
2023

Non-peptide, once-per-day oral orforglipron to compete with established peptide-based, injectable GLP-1 receptor agonists.

Lancet (London, England)
2023

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.

American journal of medical genetics. Part A
2023

The future of child and adolescent clinical psychopharmacology: A systematic review of phase 2, 3, or 4 randomized controlled trials of pharmacologic agents without regulatory approval or for unapproved indications.

Neuroscience and biobehavioral reviews
2023

The Italian registry for patients with Prader-Willi syndrome.

Orphanet journal of rare diseases
2023

Multicentric Italian case-control study on 25OH vitamin D levels in children and adolescents with Prader-Willi syndrome.

Journal of endocrinological investigation
2023

The Evolving Landscape of Viral, Immune, and Molecular Biomarkers in Penile Cancer.

The Urologic clinics of North America
2022

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022.

Annales d'endocrinologie
2023

Bidirectional associations of sleep and discretionary screen time in adults: Longitudinal analysis of the UK biobank.

Journal of sleep research
2022

Comprehensive literature review on the prevalence of comorbid conditions in patients with achondroplasia.

Bone
2022

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.

PloS one
2022

Cholangiocarcinoma landscape in Europe: Diagnostic, prognostic and therapeutic insights from the ENSCCA Registry.

Journal of hepatology
2021

A family history of type 2 diabetes as a predictor of fatty liver disease in diabetes-free individuals with excessive body weight.

Scientific reports
2021

Impact of COVID-19 and lockdowns on pulmonary embolism in hospitalized patients in France: a nationwide study.

Respiratory research
2021

Obesity and Breast Cancer Risk in Men: A National Case-Control Study in England and Wales.

JNCI cancer spectrum
2021

Elemental composition, rare earths and minority elements in organic and conventional wines from volcanic areas: The Canary Islands (Spain).

PloS one
2021

Ursodeoxycholic acid for the prevention of symptomatic gallstone disease after bariatric surgery (UPGRADE): a multicentre, double-blind, randomised, placebo-controlled superiority trial.

The lancet. Gastroenterology &amp; hepatology
2022

Subgroups of patients with young-onset type 2 diabetes in India reveal insulin deficiency as a major driver.

Diabetologia
2021

Dietary Patterns, Eating Behavior, and Nutrient Intakes of Spanish Preschool Children with Autism Spectrum Disorders.

Nutrients
2021

Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.

American journal of human genetics
2021

Common and Unique Genetic Background between Attention-Deficit/Hyperactivity Disorder and Excessive Body Weight.

Genes
2021

APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups.

Lipids in health and disease
2021

SARS-CoV-2 infection in pregnancy in Denmark-characteristics and outcomes after confirmed infection in pregnancy: A nationwide, prospective, population-based cohort study.

Acta obstetricia et gynecologica Scandinavica
2021

Predictors of severe COVID-19 in a registry-based Swedish cohort of patients with COPD.

The European respiratory journal
2021

Muscle strength is associated with COVID-19 hospitalization in adults 50 years of age or older.

Journal of cachexia, sarcopenia and muscle
2021

The landscape of preventive cardiology in Turkey: Challenges and successes.

American journal of preventive cardiology
2021

Obesity in Pediatric-Onset Multiple Sclerosis: A French Cohort Study.

Neurology(R) neuroimmunology &amp; neuroinflammation
2021

Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome.

Orphanet journal of rare diseases
2021

US Case Reports of Cerebral Venous Sinus Thrombosis With Thrombocytopenia After Ad26.COV2.S Vaccination, March 2 to April 21, 2021.

JAMA
2021

Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals.

Genes
2021

COVID-19 in pregnancy-characteristics and outcomes of pregnant women admitted to hospital because of SARS-CoV-2 infection in the Nordic countries.

Acta obstetricia et gynecologica Scandinavica
2021

Management of anaphylaxis due to COVID-19 vaccines in the elderly.

Allergy
2021

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.

International journal of molecular sciences
2021

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.

Genes
2022

Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency.

Gut
2021

Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain.

Scientific reports
2021

Intensive livestock farming as a major determinant of the exposure to anticoagulant rodenticides in raptors of the Canary Islands (Spain).

The Science of the total environment
2021

The Interplay Between Titin, Polygenic Risk, and Modifiable Cardiovascular Risk Factors in Atrial Fibrillation.

The Canadian journal of cardiology
2021

Comparison of the characteristics, morbidity, and mortality of COVID-19 and seasonal influenza: a nationwide, population-based retrospective cohort study.

The Lancet. Respiratory medicine
2020

The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes.

International journal of environmental research and public health
2020

Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.

Genes
2020

Incidence and regression of metabolic syndrome in a representative sample of the Spanish population: results of the cohort [email protected] study.

BMJ open diabetes research &amp; care
2020

Outcome of Hospitalization for COVID-19 in Patients with Interstitial Lung Disease. An International Multicenter Study.

American journal of respiratory and critical care medicine
2020

A prospective study of anal symptoms and continence among obese patients before and after bariatric surgery.

Techniques in coloproctology
2020

Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents' experiences through a multicentre narrative medicine research.

BMJ open
2020

Pregnancy in metabolic healthy and unhealthy obese women.

Acta obstetricia et gynecologica Scandinavica
2020

Identification of ALK in Thinness.

Cell
2020

Impact of the Definition of Metabolically Healthy Obesity on the Association with Incident Cardiovascular Disease.

Metabolic syndrome and related disorders
2020

Imprinting disorders in children born after ART: a Nordic study from the CoNARTaS group.

Human reproduction (Oxford, England)
2020

Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers.

Gastroenterology
2020

Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort☆.

Journal of hepatology
2020

Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity.

Frontiers in endocrinology
2020

Calciphylaxis epidemiology, risk factors, treatment and survival among French chronic kidney disease patients: a case-control study.

BMC nephrology
2020

Incidence of diabetes mellitus in Spain as results of the nation-wide cohort [email protected] study.

Scientific reports
2020

Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.

Orphanet journal of rare diseases
2020

European lipodystrophy registry: background and structure.

Orphanet journal of rare diseases
2020

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.

JAMA cardiology
2020

Obesity and other medical comorbidities among NT1 patients after the Norwegian H1N1 influenza epidemic and vaccination campaign.

Sleep
2019

Causes of death in Prader-Willi syndrome: lessons from 11 years' experience of a national reference center.

Orphanet journal of rare diseases
2020

Clinical Situation, Therapy, and Follow-Up of Adult Craniopharyngioma.

The Journal of clinical endocrinology and metabolism
2019

Breakthrough bloodstream infections in critically ill non-neutropenic patients: higher incidence and better survival than non-breakthrough infections.

Journal of medical microbiology
2019

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

European journal of human genetics : EJHG
2018

Familial Urinary Bladder Cancer with Other Cancers.

European urology oncology
2019

Parental support in promoting children's health behaviours and preventing overweight and obesity - a long-term follow-up of the cluster-randomised healthy school start study II trial.

BMC pediatrics
2019

[Children with psoriasis in secondary care: Clinical aspects and comorbidities diverge from the generally published data].

Annales de dermatologie et de venereologie
2020

TNF-α G-308A genetic variants, serum CRP-hs concentration and DNA damage in obese women.

Molecular biology reports
2019

[Prevalence of insomnia and characteristic of patients with insomnia in a health area of Majorca (Spain)].

Atencion primaria
2019

Evaluation of a rare glucose-dependent insulinotropic polypeptide receptor variant in a patient with diabetes.

Diabetes, obesity &amp; metabolism
2019

High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.

Acta diabetologica
2019

Reoperations After Bariatric Surgery in 26 Years of Follow-up of the Swedish Obese Subjects Study.

JAMA surgery
2018

Perioperative surgery- and anaesthesia-related risks of laparoscopic Roux-en-Y gastric bypass - a single centre, retrospective data analysis.

BMC anesthesiology
2019

Melatonin in type 2 diabetes mellitus and obesity.

Nature reviews. Endocrinology
2019

Risk factors associated with non-union after triple pelvic osteotomy (Toennis and Kalchschmidt technique): a case-control study and review of the literature.

Archives of orthopaedic and trauma surgery
2018

Efficacy, safety, and tolerability of evolocumab in pediatric patients with heterozygous familial hypercholesterolemia: Rationale and design of the HAUSER-RCT study.

Journal of clinical lipidology
2018

Treatment adherence and BMI reduction are key predictors of HbA1c 1 year after diagnosis of childhood type 2 diabetes in the United Kingdom.

Pediatric diabetes
2018

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

PloS one
2018

Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy.

BMC endocrine disorders
2018

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.

Nature communications
2018

Effects of Gene Variants Controlling Vitamin D Metabolism and Serum Levels on Hepatic Steatosis.

Digestion
2018

Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.

Human molecular genetics
2018

Sociodemographic and lifestyle determinants of non-attendance for cervical cancer screening in Lithuania, 2006-2014.

Public health
2018

Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes.

Nature genetics
2018

Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia.

Annals of human genetics
2018

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).

European journal of endocrinology
2017

Nonalcoholic Fatty Liver Disease in Italian Children with Down Syndrome: Prevalence and Correlation with Obesity-Related Features.

The Journal of pediatrics
2016

Histopathological features of post-mortem pituitaries: A retrospective analysis.

Revista da Associacao Medica Brasileira (1992)
2017

Prevalence of diabetes mellitus and impaired glucose metabolism in the adult population of the Basque Country, Spain.

Diabetic medicine : a journal of the British Diabetic Association
2016

Is there still room for additional common susceptibility alleles for venous thromboembolism?

Journal of thrombosis and haemostasis : JTH
2016

Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial.

The Lancet. Neurology
2016

Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe.

The European journal of health economics : HEPAC : health economics in prevention and care
2016

Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan.

Nature communications
2016

Promotion of physical activity in patients with non-communicable diseases in Luxembourg: a follow-up of the Sport-Sante inventory from 2014.

Bulletin de la Societe des sciences medicales du Grand-Duche de Luxembourg
2015

Incidence of new-onset wheeze: a prospective study in a large middle-aged general population.

BMC pulmonary medicine
2015

Updated results of 100 patients on clinical features and therapeutic options in necrobiosis lipoidica in a retrospective multicentre study.

European journal of dermatology : EJD
2015

Craniopharyngioma: long-term consequences of a chronic disease.

Expert review of neurotherapeutics
2016

Management of Takotsubo cardiomyopathy in non-academic hospitals in France: The Observational French SyndromEs of TakoTsubo (OFSETT) study.

Archives of cardiovascular diseases
2016

DNA methylation and gene expression patterns in adipose tissue differ significantly within young adult monozygotic BMI-discordant twin pairs.

International journal of obesity (2005)
2016

Presentation and surgical management of leaks after mini-gastric bypass for morbid obesity.

Surgery for obesity and related diseases : official journal of the American Society for Bariatric Surgery
2015

Nut consumption is inversely associated with both cancer and total mortality in a Mediterranean population: prospective results from the Moli-sani study.

The British journal of nutrition
2016

The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2015

Genetic and structural variation in the SH2B1 gene in the Belgian population.

Molecular genetics and metabolism
2015

Copy number variations and cognitive phenotypes in unselected populations.

JAMA
2016

TM6SF2 Glu167Lys polymorphism is associated with low levels of LDL-cholesterol and increased liver injury in obese children.

Pediatric obesity
2015

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.

The Journal of clinical endocrinology and metabolism
2015

Primary prevention of congenital anomalies: recommendable, feasible and achievable.

Public health genomics
2015

Longitudinal weight differences, gene expression and blood biomarkers in BMI-discordant identical twins.

International journal of obesity (2005)
2015

Maternal and birth anthropometric characteristics in relation to the risk of childhood lymphomas: a Swedish nationwide cohort study.

European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)

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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.

  1. Being overindebted and overweight in Switzerland - A largely unexplored association in an understudied population.
    PloS one· 2026· PMID 41701702mais citado
  2. Generalized Pustular Psoriasis: Current Treatment and Innovative Therapies.
    Cureus· 2026· PMID 41835689mais citado
  3. Defining the external exposome of newborns from La Palma Island, Spain: characteristics of realistic mixtures and its role on Precision Public Health.
    International journal of hygiene and environmental health· 2026· PMID 41690196mais citado
  4. Occupational determinants of Long COVID in the population-based COVICAT cohort.
    Occupational and environmental medicine· 2026· PMID 41360602mais citado
  5. Exploring endometrial cancer in premenopausal women-A&#xa0;nationwide PremEnCa cohort study.
    Acta obstetricia et gynecologica Scandinavica· 2026· PMID 41239761mais citado
  6. Effectiveness and safety of GLP-1 receptor agonists in craniopharyngioma patients with obesity: A multicentre real-world study.
    Diabetes Obes Metab· 2026· PMID 41153084recente
  7. The burden of obesity in primary care in Italy: Italian real-world overweight/obesity study (ITROS).
    Eat Weight Disord· 2025· PMID 41123739recente
  8. Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.
    Nat Commun· 2025· PMID 41062462recente
  9. Outcomes of inflammatory bowel disease in patients with obesity following bariatric surgery: propensity score-matched cohort study.
    BJS Open· 2025· PMID 40802498recente

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  1. ORPHA:521399(Orphanet)
  2. MONDO:0011122(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)

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ORPHA:521399 · MONDO:0011122
MedGen
Repurposing
2 candidatos
ephedrineadrenergic receptor agonist
ephedrine-(racemic)
Wikipedia
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