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114 resultados encontrados.

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Congenital Complete Atrioventricular Heart Block in a Pregnant Woman with Sjögren Syndrome: Prenatal Care Follow-Up and the Challenge of Intrauterine Treatment
Artículo
Material complementario disponible Artículo DOAJ
Milene Carvalho Carrilho et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · ISSN 0100-7203
Abstract The present report describes a case of complete atrioventricular block (CAVB) diagnosed at 25 weeks of gestation in a pregnant woman with Sjögren's syndrome and positive anti-Ro/SSA antibodies. Fluorinated ster...
LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma eng
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Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency Presented With Leydig Cell Tumor and Testicular Adrenal Rest Tumors: A Case Report
Artículo
Acceso abierto Artículo DOAJ
Shervin Mossavarali et al · Wiley · 2026 · ISSN 2090-651X
Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency is an uncommon disorder characterized by impaired cortisol synthesis, hyperandrogenism, and mineralocorticoid excess. The coexistence of Leydig cell...
LCC LCC:Diseases of the endocrine glands. Clinical endocrinologyIdioma eng
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Open Access
Congenital multiple arthrogryposis in bovine
Artículo
Acceso abierto Artículo DOAJ
D.P. Vrisman et al · Universidade Federal de Minas Gerais, Escola de Veterinária · ISSN 1678-4162
ABSTRACT This report describes an anal atresia, anatomical urethra alteration (slightly caudal to the udder), thickened joints, and changes in the pelvis in a newborn Holstein cow. Visualization of the final portion of t...
LCC LCC:Animal cultureIdioma eng
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Open Access
Congenital muscular dystrophy in a dog with a LAMA2 gene deletion
Artículo
Material complementario disponible Artículo DOAJ
G. Diane Shelton et al · Oxford University Press · 2022 · ISSN 0891-6640
Abstract A 2‐year‐old female spayed dog was presented with a chronic history of short‐strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane socie...
LCC TENDOlZldGVyaW5hcnkgbWVkaWNpbmU~Idioma eng
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Association between maternal PM2.5 exposure and congenital heart defects in offspring: a time-series study
Artículo
Acceso abierto Artículo DOAJ
Qunying Li et al · Frontiers Media S.A · 2026 · ISSN 2296-2565
BackgroundMaternal exposure to air pollutants are associated with congenital heart defects (CHDs), yet fundamental questions remain unclear: which pollutant matters most, which exposure window is most critical, and wheth...
LCC LCC:Public aspects of medicineIdioma eng
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Defeitos congênitos e exposição a agrotóxicos no Vale do São Francisco Congenital defects and exposure to pesticides in São Francisco Valley
Artículo
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Silvio Romero Gonçalves e Silva et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · 2011 · ISSN 0100-7203
OBJETIVO: avaliar a associação entre a exposição dos genitores aos agrotóxicos e nascimentos com defeitos congênitos no Vale do São Francisco, bem como o perfil sociodemográfico e os defeitos encontrados. MÉTODO...
LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma eng
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Early cardiac rehabilitation in ICU for infants after complex congenital heart disease surgery: a retrospective case series
Artículo
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Mingye Yue et al · Frontiers Media S.A · 2026 · ISSN 2296-2360
BackgroundComplex congenital heart disease (CHD) has long been a significant cause of infant mortality and severe morbidity. However, pediatric cardiac rehabilitation (CR) is gaining recognition, and evidence regarding p...
LCC TENDOlBlZGlhdHJpY3M~Idioma eng
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Efficacy and safety of direct oral anticoagulants in pediatric congenital and acquired heart disease: a systematic review and meta-analysis of randomized controlled trials
Artículo
Acceso abierto Artículo DOAJ
Hanan El-Sayed Bakry et al · BMC · 2026 · ISSN 1477-9560
Abstract Background Children with congenital and acquired heart disease (CAHD) are at high risk for venous thromboembolism (VTE). Traditional anticoagulants such as vitamin K antagonists (VKAs) and low-molecular-weight h...
LCC TENDOkRpc2Vhc2VzIG9mIHRoZSBibG9vZCBhbmQgYmxvb2QtZm9ybWluZyBvcmdhbnM~Idioma eng
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Evaluation of the congenital absence of the vas deferens with magnetic resonance imaging: preliminary findings
Artículo
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Hakan İmamoğlu et al · Turkish Society of Radiology · 2026 · ISSN 1305-3825
PURPOSE: To date, no study provides definitive evidence for the pathogenesis of congenital absence of the vas deferens (CAVD). This study aims to evaluate the vas deferens (VD), particularly the intra-abdominal part and ...
LCC TENDOk1lZGljYWwgcGh5c2ljcy4gTWVkaWNhbCByYWRpb2xvZ3kuIE51Y2xlYXIgbWVkaWNpbmU~Idioma eng
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Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia
Artículo
Material complementario disponible Artículo CONICET Digital
Rossi, Malco Damián et al · Elsevier Science · 2017 · ISSN 0022-510X
Dear EditorPhosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of a...
Idioma eng
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Idiopathic congenital Horner Syndrome. Presentation of a case
Artículo
Acceso abierto Artículo DOAJ
Leopoldo Garduño-Vieyra et al · Ukrainian Society of Ophthalmologists · 2023 · ISSN 3083-7197
Horner Syndrome results from an interruption of the sympathetic innervation of the eye. This pathway is a chain of three neurons which originate in the hypothalamus, travels down to spinal cord at the level of lower cerv...
LCC LCC:MedicineIdioma eng
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Interdisciplinary transition of care for congenital gastrointestinal malformations: analysis of a standardized program
Artículo
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Kiblawi Rim et al · De Gruyter · 2025 · ISSN 2191-0278
Adolescents with congenital gastrointestinal malformations, such as esophageal atresia, anorectal malformations, and Hirschsprung’s disease, frequently face long-term physical and psychological sequelae. Despite increa...
LCC LCC:MedicineIdioma eng
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Machine learning-based prediction of treatment outcomes and quantitative analysis of contributing factors in fertility induction therapy for adolescent male patients with congenital hypogonadotropic hypogonadism
Artículo
Material complementario disponible Artículo DOAJ
Xinyu Dou et al · Frontiers Media S.A · 2026 · ISSN 2296-889X
ObjectiveCongenital Hypogonadotropic Hypogonadism (CHH) is a rare disease with an extremely low incidence, and the outcomes of fertility induction therapy in CHH patients exhibit significant interindividual heterogeneity...
LCC LCC:Biology (General)Idioma eng
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Mid-term prognosis and risk stratification in patients with post-operative pulmonary hypertension: Insights from the Japanese Association of Congenital Heart Disease Registry (JACPHR)
Artículo
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Naofumi F. Sumitomo et al · Elsevier · 2026 · ISSN 2666-6022
Background: Post-operative pulmonary hypertension (PH) following biventricular repair of congenital heart disease (CHD) remains a high-risk condition, but its prognosis and risk stratification are poorly defined. This st...
LCC TENDOkRpc2Vhc2VzIG9mIHRoZSBjaXJjdWxhdG9yeSAoQ2FyZGlvdmFzY3VsYXIpIHN5c3RlbQ~~Idioma eng
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Multiple congenital malformations in a litter of feline fetuses associated with gestational exposure to a synthetic estrus-suppressing progestin
Artículo
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Wellida Karinne Lacerda et al · BMC · 2026 · ISSN 1746-6148
Abstract Background Congenital malformations in domestic cats are traditionally considered uncommon; however, recent evidence suggests they may represent an underrecognized cause of neonatal mortality. Most reported anom...
LCC TENDOlZldGVyaW5hcnkgbWVkaWNpbmU~Idioma eng
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Patterns, survival, and mortality predictors in children with down syndrome and congenital heart disease in resource-limited settings: a follow-up study
Artículo
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Mohammed Nasir et al · BMC · 2026 · ISSN 1471-2431
Abstract Background Down syndrome (DS) is the most common chromosomal disorder associated with congenital heart disease (CHD). However, data on CHD patterns, survival, and mortality predictors among individuals with DS i...
LCC TENDOlBlZGlhdHJpY3M~Idioma eng
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Phenotypes of early postoperative complications and dynamics of laboratory markers in infants after congenital heart defect correction
Artículo
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M. H. Melnychenko et al · Zaporizhzhia State Medical and Pharmaceutical University · 2026 · ISSN 2306-4145
The early postoperative period in infants following the correction of congenital heart defects is often accompanied by hemodynamic lability, systemic stress, and an acute-phase response, which may lead to transient organ...
LCC LCC:MedicineIdioma eng
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Pregestational Diabetes and Congenital Heart Defects
Artículo
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Catarina Maduro et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · 2023 · ISSN 0100-7203
Abstract Studies have consistently shown a significant increase in the risk of congenital heart defects in the offspring of diabetic mothers compared with those of nondiabetic pregnancies. Evidence points that all types ...
LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma eng
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Real-world use of rivaroxaban for primary thromboprophylaxis and cardiac thrombosis treatment in congenital and acquired heart disease: a prospective cohort study
Artículo
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Neil Derridj et al · Nature Portfolio · 2026 · ISSN 2045-2322
Abstract To evaluate the incidence of bleeding and thrombotic events in children with congenital or acquired heart disease (CAHD) receiving direct oral anticoagulants by rivaroxaban, and identify associated covariates. T...
LCC LCC:Medicine; TENDOlNjaWVuY2U~Idioma eng
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Selective ROCK2 Upregulation in Congenital Penile Curvature: A Molecular Signature Distinguishing Developmental from Acquired Penile Pathologies
Artículo
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Mustafa Sesli et al · Duzce University · 2026 · ISSN 1307-671X
Aim: To investigate whether RhoA/ROCK pathway genes (RHOA, ROCK1, ROCK2) are differentially expressed in tunica albuginea of patients with congenital penile curvature (CPC) relative to Peyronie's disease (PD) and erectil...
LCC LCC:Medicine; TENDOk1lZGljaW5lIChHZW5lcmFsKQ~~Idioma eng
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Bilateral Sensorineural Deafness and Congenital Malformation of the Middle, Internal Ear and Auditory Nerves in a Child with Pierpont Syndrome: A Case Report
Artículo
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Liya Vladimirovna Toropchina et al · Duzce University · 2026 · ISSN 1307-671X
The case report aimed to present a clinical case of a 3-year-old boy, who presented first with motor delay at 3 months, later with bilateral total deafness and hypotonia, and was diagnosed as Pierpont syndrome with an au...
LCC LCC:Medicine; TENDOk1lZGljaW5lIChHZW5lcmFsKQ~~Idioma eng
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The effect of congenital toxoplasmosis on some Biochemical levels of serum and blood contents of pregnant women infected in Mosul
Artículo
Acceso abierto Artículo DOAJ
Gasan Alobaydi · University of Mosul, College of Education for Pure Science · 1970 · ISSN 1812-125X
ABSTRACT The study included (45) samples of blood from pregnant women, which are positive to Toxoplasma gondii by latex agglutination test, and (10) sample of blood from pregnant women, which are negative to Toxoplasma g...
LCC TENDOkVkdWNhdGlvbg~~; LCC:Science (General)Idioma eng
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Association of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats
Artículo
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Mario Van Poucke et al · Oxford University Press · 2022 · ISSN 0891-6640
Abstract Background Primary congenital hypothyroidism (CH) is a rare endocrine disorder in cats with a largely unknown genetic cause. Objectives Describe the clinical presentation of CH in 11 affected cats and identify t...
LCC TENDOlZldGVyaW5hcnkgbWVkaWNpbmU~Idioma eng
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Case Report: Homozygous KISS1R mutation associated with congenital hypogonadotropic hypogonadism in two siblings: pulsatile GnRH therapy restores pituitary architecture and induces pubertal development
Artículo
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Rongwan Sun et al · Frontiers Media S.A · 2026 · ISSN 2296-858X
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH), the central regulator of the reproductive axis. We r...
LCC TENDOk1lZGljaW5lIChHZW5lcmFsKQ~~Idioma eng
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