Raras
Buscar doenças, sintomas, genes...
Síndrome de braquidactilia-hipertensão arterial
ORPHA:1276CID-10 · Q73.8CID-11 · LD24.8YOMIM 112410DOENÇA RARA

A Síndrome de Braquidactilia e Hipertensão Arterial é uma condição genética rara que se caracteriza pela associação de braquidactilia (dedos curtos), do tipo E, com pressão alta (hipertensão arterial). A pressão alta ocorre devido a problemas nos vasos sanguíneos ou nos nervos ligados a eles. Outras características incluem baixa estatura, baixo peso ao nascer (em comparação com familiares que não são afetados), uma constituição física robusta e um rosto arredondado. A pressão alta costuma aparecer na infância e, se não for tratada, a maioria dos pacientes terá tido um AVC (derrame cerebral) antes dos 50 anos de idade.

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Introdução

O que você precisa saber de cara

📋

A Síndrome de Braquidactilia e Hipertensão Arterial é uma condição genética rara que se caracteriza pela associação de braquidactilia (dedos curtos), do tipo E, com pressão alta (hipertensão arterial). A pressão alta ocorre devido a problemas nos vasos sanguíneos ou nos nervos ligados a eles. Outras características incluem baixa estatura, baixo peso ao nascer (em comparação com familiares que não são afetados), uma constituição física robusta e um rosto arredondado. A pressão alta costuma aparecer na infância e, se não for tratada, a maioria dos pacientes terá tido um AVC (derrame cerebral) antes dos 50 anos de idade.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
10
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q73.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Características mais comuns

100%prev.
Hipertensão
Muito frequente (99-80%)
100%prev.
Baixa estatura
Muito frequente (99-80%)
98%prev.
Braquidactilia tipo E
Frequência: 46/47
90%prev.
Metacarpo curto
Muito frequente (99-80%)
90%prev.
Falange curta do dedo
Muito frequente (99-80%)
90%prev.
Braquidactilia
Muito frequente (99-80%)
8sintomas
Muito frequente (6)
Ocasional (1)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.

HipertensãoHypertension
Muito frequente (99-80%)100%
Baixa estaturaShort stature
Muito frequente (99-80%)100%
Braquidactilia tipo EType E brachydactyly
Frequência: 46/4798%
Metacarpo curtoShort metacarpal
Muito frequente (99-80%)90%
Falange curta do dedoShort phalanx of finger
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026195 papers
Linha do tempo
2025Hoje · 2026
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

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

PDE3AcGMP-inhibited 3',5'-cyclic phosphodiesterase 3ADisease-causing germline mutation(s) (gain of function) inRestrito
FUNÇÃO

Cyclic nucleotide phosphodiesterase with specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:1315035, PubMed:25961942, PubMed:8155697, PubMed:8695850). Also has activity toward cUMP (PubMed:27975297). Independently of its catalytic activity it is part of an E2/17beta-estradiol-induced pro-apoptotic signaling pathway. E2 stabilizes the PDE3A/SLFN12 complex in the cytosol, promoting the dephosphorylation of SLFN12 and acti

LOCALIZAÇÃO

MembraneCytoplasm, cytosol

VIAS BIOLÓGICAS (1)
G alpha (s) signalling events
MECANISMO DE DOENÇA

Hypertension and brachydactyly syndrome

A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
66.1 TPM
Aorta
47.5 TPM
Artéria coronária
46.6 TPM
Esôfago - Junção
37.5 TPM
Esôfago - Muscular
34.5 TPM
OUTRAS DOENÇAS (1)
brachydactyly-arterial hypertension syndrome
HGNC:8778UniProt:Q14432

Variantes genéticas (ClinVar)

60 variantes patogênicas registradas no ClinVar.

🧬 PDE3A: GRCh38/hg38 12p13.33-11.1(chr12:64621-34650483)x3 ()
🧬 PDE3A: GRCh38/hg38 12p13.33-q13.12(chr12:82453-49847230)x3 ()
🧬 PDE3A: NM_000921.5(PDE3A):c.1346G>C (p.Gly449Ala) ()
🧬 PDE3A: NM_000921.5(PDE3A):c.1961C>A (p.Ser654Ter) ()
🧬 PDE3A: NM_000921.5(PDE3A):c.2770-197T>G ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 29 variantes classificadas pelo ClinVar.

23
6
VUS (79.3%)
Benigna (20.7%)
VARIANTES MAIS SIGNIFICATIVAS
PDE3A: NM_000921.5(PDE3A):c.1391_1399dup (p.Ile466_Lys467insThrSerIle) [Uncertain significance]
PDE3A: NM_000921.5(PDE3A):c.1148C>A (p.Thr383Lys) [Uncertain significance]
PDE3A: NM_000921.5(PDE3A):c.1993A>G (p.Met665Val) [Uncertain significance]
PDE3A: NM_000921.5(PDE3A):c.41C>A (p.Pro14His) [Uncertain significance]
PDE3A: NM_000921.5(PDE3A):c.2863G>C (p.Ala955Pro) [Uncertain significance]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de braquidactilia-hipertensão arterial

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.

Frontiers in pediatrics2026

Post-Streptococcal glomerulonephritis (PSGN) most commonly follows streptococcal infections and presents with classic features such as hematuria, proteinuria, hypertension, and transient renal dysfunction. While renal-limited disease is typical, extrarenal manifestations-particularly serosal involvement-are exceptionally rare in children. We report a rare case of an adolescent who presented with nephritic syndrome marked by hypertension, gross hematuria, proteinuria, and notably, concurrent pleural and pericardial effusions. Laboratory evaluation revealed low serum complement levels (C3 and C4), consistent with immune complex-mediated glomerulonephritis. Extensive infectious and autoimmune workups were unremarkable. The patient was managed conservatively with antihypertensives and diuretics, with complete resolution of symptoms and normalization of renal function and complement levels within four weeks. To our knowledge, serosal involvement (pleural and pericardial effusions) at initial presentation in pediatric PSGN remains extremely rare, with very few documented cases in the literature. This report contributes valuable clinical insight, emphasizing that PSGN can occasionally mimic systemic inflammatory or autoimmune conditions. Early identification and conservative management can prevent overtreatment and improve outcomes. This case underscores an unusual presentation of PSGN with serosal involvement-a manifestation reported only sporadically in literature. Recognition of such rare systemic features is crucial to avoid diagnostic delays or unnecessary immunosuppression. Supportive care alone led to favorable outcomes, reinforcing the self-limited nature of PSGN even in atypical presentations. It serves as a valuable reminder that atypical PSGN can present with multi-system inflammation, and a precise diagnostic approach integrating serology and clinical course is essential to avoid unnecessary intervention.

#2

Adjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.

European journal of gastroenterology &amp; hepatology2026 Mar 02

The role of adjuvant programmed cell death-1 (PD-1) inhibitors following curative hepatectomy in patients with hepatocellular carcinoma (HCC) at high risk of recurrence remains controversial. This study aims to evaluate the efficacy and safety of camrelizumab (a PD-1 inhibitor) as adjuvant therapy in these patients. This retrospective, single-arm study conducted across eight medical centers from April 2019 to January 2024 enrolled 82 HCC patients at high-risk recurrence, who received camrelizumab (200 mg) as monotherapy or in combination with tyrosine kinase inhibitors (TKIs). The primary endpoint was recurrence-free survival (RFS), while secondary endpoints included overall survival (OS) and adverse events. Propensity score matching (PSM) was utilized to adjust for potential confounders. The median follow-up duration was 27.0 months (interquartile range: 21.6-44.5). The median RFS was 28.7 months (95% confidence interval: 18.1-39.3), and the corresponding RFS rates at 12, 24, and 36 months were 68.3, 57.9, and 46.7, respectively. The median OS was not reached, with OS rates at 12, 24, and 36 months being 92.7, 90.0, and 82.1%, respectively. Among the patients, 56 received camrelizumab in combination with TKIs, while 26 received camrelizumab alone. Compared with monotherapy, combination therapy demonstrated no significant advantages in either RFS or OS. Similar results were obtained after PSM. Among all patients, the most common grade 3 or 4 adverse events were reactive cutaneous capillary endothelial proliferation (9.8%), hand-foot syndrome (4.9%), and hypertension (4.9%). Adjuvant camrelizumab may improve the prognosis of patients with HCC at high risk of recurrence after curative hepatectomy. Combination therapy with TKIs may be unnecessary.

#3

Neonatal hypoxic-ischemic encephalopathy online registry in Shenzhen: protocol for a multicentre, prospective, open, observational cohort study.

BMJ open2026 Mar 18

Hypoxic-ischaemic encephalopathy (HIE), a leading cause of neurological disability in neonates, is managed with therapeutic hypothermia, yet systematic data on its aetiology and prognosis are lacking, particularly in China. Herein, our study addresses this gap by establishing a prospective registry in Shenzhen and aims to clinically characterise HIE, identify its risk factors and document its long-term outcomes. We will recruit 200 neonates with HIE from 10 hospitals in Shenzhen, China, between January 2025 and December 2028. In parallel, clinical data will be collected during hospitalisation, with supplemental referral information obtained from birth hospitals via an online, specialised HIE database. We will include HIE severity, survival status and the incidence of serious complications, such as arrhythmias, pulmonary haemorrhage, neonatal acute respiratory distress syndrome, persistent pulmonary hypertension of the newborn and disseminated intravascular coagulation, to assess key outcomes of HIE in neonates.Longitudinal follow-up is scheduled for 18, 24 and 36 months, involving assessments using physical developmental scales, video-electroencephalogram (VEEG) recordings, the Chinese version of the Bayley Infant and Toddler Developmental Scale, Fourth Edition and cranial MRI at 18 months. The primary objectives of this study are to determine survival status, track loss-to-follow-up rates and evaluate neurodevelopmental outcomes at 3 years, with the ultimate goal of enhancing our understanding of HIE risk factors, hypothermia therapy and prognosis to reduce HIE-related morbidity and disability. This study protocol has been approved by the Medical Ethics Committee of Shenzhen Children's Hospital (Ethics No. 2024096), and the findings will be disseminated through presentations at national academic conferences and publication in peer-reviewed paediatric journals. ChiCTR2400094994.

#4

Long-term relief of CRPS-associated limb dystonia with ketamine infusion.

BMJ case reports2026 Mar 19

Complex regional pain syndrome (CRPS) with associated dystonia is a severely debilitating condition often refractory to conventional management. We present a case report of three patients with chronic, treatment-refractory CRPS-related limb dystonia. Patients were treated with multiday intravenous ketamine infusions (target dose 30 mg/hour) every 3-6 months, supplemented with oral ketamine troches. This treatment protocol resulted in the complete resolution of dystonia in two patients and significant functional improvement in the third. The treatment was well-tolerated, with transient and manageable adverse events including nausea and hypertension. While these findings are limited due to the small sample size and lack of randomisation, this case report presents a potentially promising therapeutic approach for the treatment of CRPS-related motor complications in carefully selected patients with appropriate monitoring.

#5

Mycophenolate mofetil versus prednisone for the initial treatment of idiopathic steroid-sensitive nephrotic syndrome in children in Germany (INTENT): a multicentre, open-label, randomised, controlled, parallel-group, non-inferiority, phase 3 trial.

The Lancet. Child &amp; adolescent health2026 Mar 16

Prolonged glucocorticoid therapy is the standard initial treatment for idiopathic nephrotic syndrome in children, but is associated with marked toxic effects. We aimed to assess whether a novel treatment protocol with mycophenolate mofetil is as effective as standard therapy with prednisone, while reducing the burden of glucocorticoid-related side-effects. INTENT was a multicentre, open-label, randomised, controlled, parallel-group, non-inferiority, phase 3 trial done in 37 community, municipal, and university hospitals in Germany. Patients aged 1-10 years with a first episode of steroid-sensitive nephrotic syndrome were randomly assigned (1:1) by a centralised web-based tool to receive either mycophenolate mofetil or prednisone (standard treatment), after remission induced by prednisone or prednisolone at a dose of 60 mg/m2 body surface area (maximum 80 mg/day) within 28 days. Block randomisation (block size of eight) was stratified by age (<7 years or ≥7 years). Mycophenolate mofetil was given at 1200 mg/m2 body surface area per day, twice daily, as a suspension (200 mg/mL) for a total treatment duration of 12 weeks. Prednisone was administered once, twice, or three times daily for 6 weeks at 60 mg/m2 body surface area per day (maximum 80 mg). Thereafter, prednisone was given for a further 6 weeks at 40 mg/m2 body surface area (maximum 60 mg) once daily in the morning on alternate days. The primary endpoint was the occurrence of a treated relapse during the 24-months of follow-up in the modified intention-to-treat population. The non-inferiority margin was 15%. This trial is registered with the European Union Drug Regulating Authorities Clinical Trials database (EudraCT 2014-001991-76) and has been completed. Between Oct 12, 2015, and April 23, 2021, 497 patients were screened for eligibility, 272 of whom were randomly assigned (136 to each group). The modified intention-to-treat population comprised 269 patients, of whom 173 (64%) were boys and 96 (36%) were girls (median age 4·0 years [IQR 2·0-5·0]). Mycophenolate mofetil was non-inferior to prednisone for the primary endpoint of treated relapse (106 [79·1%] of 134 vs 101 [74·8%] of 135; difference 4·3% [90% CIs -4·2 to 12·7]; p=0·019). At the end of the first 12 weeks of treatment, fewer glucocorticoid-related side-effects were observed in the mycophenolate mofetil group than the prednisone group, including arterial hypertension (78 [59·1%] of 132 vs 115 [87·1%] of 132; difference -28·0% [95% CI -37·7 to -17·5]), lower BMI (BMI Z score 0·16 [SD 0·85] vs 1·41 [1·02]; difference -1·24 [-1·47 to -1·02]), and fewer psychological abnormalities (37 [27·8%] of 133 vs 77 [57·9%] of 133; difference -30·1% [-40·9 to -18·4]). More patients in the mycophenolate mofetil group than in the prednisone group developed infections (93 [69·9%] of 133 vs 74 [55·6%] of 133; difference 14·3% [2·7 to 25·5]) and there was no statistically significant difference in the number of patients who developed at least one gastrointestinal disorder (22 [16·5%] of 133 vs 13 [9·8%] of 133; difference 6·8% [-1·5 to 14·8]). Our findings suggest that mycophenolate mofetil is non-inferior to standard prednisone treatment, with reduced glucocorticoid-related toxic effects. These findings could modify the initial standard of care for patients with steroid-sensitive nephrotic syndrome. German Federal Ministry of Education and Research.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Heritability and Cardiovascular Disease in Adult Offspring of Hypertensive Disorder of Pregnancy: A Systematic Review and Meta-Analysis.

Hypertension (Dallas, Tex. : 1979)
2026

Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.

Frontiers in pediatrics
2026

Epidemiology and Short-Term Outcomes of Acute Coronary Syndrome in a Nigerian Tertiary Hospital: A Prospective Cohort Study.

Cureus
2025

SOCIO-CLINICAL DEMOGRAPHICS AND RISK FACTORS FOR HEART FAILURE AT A TERTIARY HOSPITAL IN SOUTH-SOUTH NIGERIA: A CROSS-SECTIONAL STUDY.

Annals of Ibadan postgraduate medicine
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A PROSPECTIVE, OBSERVATIONAL STUDY ON ETIOLOGICAL SPECTRUM OF END STAGE KIDNEY DISEASE IN NORTH INDIA: DOMINANCE OF DIABETIC KIDNEY DISEASE AND EMERGING TRENDS.

Annals of Ibadan postgraduate medicine
2026

Metabolic syndrome and serum uric acid level in children and adolescents with hypertension.

Journal of hypertension
2026

Cutaneous adverse drug reactions in patients with congenital heart disease: a systematic review with focus on perioperative outcomes.

BMC cardiovascular disorders
2026

Risk factor heterogeneity across cardiovascular disease outcomes in treatment-eligible hypertensive patients.

Journal of hypertension
2026

2026 Latin American consensus for the management of patients with hypertension and cardio-renal and metabolic disturbances: endorsed by the Latin American Society of Hypertension, the Iberoamerican Hypertension League, and the World Hypertension League.

Journal of hypertension
2026

Early recognition of atypical hemolytic uremic syndrome to prevent irreversible kidney injury: cardiac failure and refractory hypertension as critical clues in young patients.

CEN case reports
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The de Winter-Wellens Continuum: Evidence of Dynamic Bidirectional Coronary Collateral Flow in Acute Coronary Syndrome.

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Building the Optometry Workforce in Somalia: A Strategic Approach to Preventing Avoidable Blindness and Expanding Access to Vision Care.

Clinical optometry
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Premature Coronary Artery Disease and Familial Dyslipidemia in Patients Presenting With Acute Coronary Syndrome: A Tertiary Cardiac Center Registry.

Cureus
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Respiratory Syncytial Virus Infection Triggering a Pulmonary Hypertensive Crisis in a Boy With Prader-Willi Syndrome-Associated Sleep-Disordered Breathing.

Cureus
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Safety, Efficacy, and Outcomes of the Modified Rotational Atherectomy Approach: A Real-World Single-Center Experience.

Indian heart journal
2026

Adjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.

European journal of gastroenterology &amp; hepatology
2026

Multifunctional ACE2-nanobody fusion design for pan-specific neutralization and cardiovascular protection in SARS coronavirus infection.

Antimicrobial agents and chemotherapy
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Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.

American journal of physiology. Renal physiology
2026

Unilateral orbital surgical emphysema following laparoscopic hiatal hernia repair and Nissen fundoplication: a case report.

Frontiers in surgery
2026

Case Report: Spontaneous Tumor Lysis Syndrome in a Patient With Cholangiocarcinoma.

Journal of investigative medicine high impact case reports
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Craniospinal cerebrospinal fluid volume changes after extreme bilateral frontotemporoparietal craniectomy and cranioplasty: a volumetric magnetic resonance imaging case report.

Croatian medical journal
2026

Posterior reversible encephalopathy syndrome in a bilateral lung transplant recipient with subtherapeutic tacrolimus levels: a case report.

Journal of medical case reports
2026

Continuous monitoring of intra-abdominal pressure: cumulative pressure exposure predicts early acute kidney injury in animal model.

World journal of emergency surgery : WJES
2026

Reversible cerebral lesions in adult STEC-associated hemolytic uremic syndrome.

Kidney international
2026

Nonlinear association between triglyceride-glucose frailty index and new-onset stroke in adults at cardiovascular-kidney-metabolic syndrome stages 0-3: a CHARLS cohort study.

Maturitas
2026

Pulmonary Hypertension in Pediatric Patients with Noonan Syndrome Undergoing Cardiac Catheterization.

Pediatric cardiology
2026

Association of muscle quality index with circadian syndrome: Evidence from NHANES.

Chronobiology international
2026

Perrault Syndrome Unmasked: Genomic Reclassification of a Fabry-Like CKDx Phenotype.

Kidney international
2026

Gestational diabetes mellitus in low- and middle-income countries: a systematic review and meta-analysis of associated factors.

Diabetes research and clinical practice
2026

Preoperative pulmonary hemodynamics and clinical decision making to determine operability and risk of long-term pulmonary hypertension in infants with open shunt under 1 year.

International journal of cardiology
2026

Correlation of Thyroid Hormone Levels and Sensitivity With Metabolic Syndrome in Older Adults.

Journal of diabetes
2026

[Renin-angiotensin-aldosterone system blockers in the treatment of patients with cardiovascular diseases combined with bronchial obstruction diseases: a review].

Terapevticheskii arkhiv
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[Pulmometabolic syndrome: a review].

Terapevticheskii arkhiv
2026

[Sleep disorders dynamics in patients with chronic thromboembolic pulmonary hypertension after surgical treatment].

Terapevticheskii arkhiv
2026

Epidemiological Risk Factor Analysis for Maternal Mortality Associated with Eclampsia: A Single-Center Study from Tertiary Hospital Garut.

International journal of women's health
2026

Localized Pulmonary Amyloidosis Associated With Sjögren's Syndrome, Coexisting Lymphoid Interstitial Pneumonia, and a Severe Double Aortic Lesion: A Case Report and Literature Review.

Cureus
2026

Metabolic Syndrome and Low Back Pain: Evidence from Cross-Sectional and Mendelian Randomization Analysis.

Journal of pain research
2026

Enhancing Pharmacology Education Through Collaborative Innovation: The Evolution and Future of PRORENATA at an Engineering-Based Medical Program.

Pharmacology research &amp; perspectives
2026

Neonatal hypoxic-ischemic encephalopathy online registry in Shenzhen: protocol for a multicentre, prospective, open, observational cohort study.

BMJ open
2026

Osteoarthritis and cardiometabolic diseases: shared mechanisms, modifiable risk factors, and integrated management strategies.

Expert review of clinical pharmacology
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Hemoglobinuria-associated acute kidney injury in hemolytic uremic syndrome without renal thrombotic microangiopathy.

BMC nephrology
2026

Efficacy and safety of Clevidipine for blood pressure control after carotid endarterectomy: a prospective cohort study.

Journal of anesthesia, analgesia and critical care
2026

Long-term relief of CRPS-associated limb dystonia with ketamine infusion.

BMJ case reports
2026

Lung ultrasound score ≥ 6 predicts surfactant administration decisions in meconium aspiration syndrome: a multicenter prospective study.

Jornal de pediatria
2026

Mycophenolate mofetil versus prednisone for the initial treatment of idiopathic steroid-sensitive nephrotic syndrome in children in Germany (INTENT): a multicentre, open-label, randomised, controlled, parallel-group, non-inferiority, phase 3 trial.

The Lancet. Child &amp; adolescent health
2026

The effect of adrenalectomy on the patients with Mild Autonomous Cortisol Secretion.

American journal of surgery
2026

Continuous Versus Bolus Terlipressin for Acute Oesophageal Variceal Bleeding and Hepatorenal Syndrome in Cirrhosis: Meta-Analysis.

Liver international : official journal of the International Association for the Study of the Liver
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Chronic tramadol abuse as a cause of serotonin syndrome.

Toxicology reports
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Vasomotor Function and Its Modulation by Perivascular Adipose Tissue Vary Depending on Metabolic Syndrome Stage.

Metabolic syndrome and related disorders
2026

Association of Vaspin rs2236242 with Metabolic Syndrome: A Meta-Analysis of Case-Control Studies.

Metabolic syndrome and related disorders
2025

Association of Serum Lipids with 10-Year CVD and All-Cause Mortality in Iranian Adults: A Prospective Cohort Study.

Archives of Iranian medicine
2026

Relapse of Membranous Nephropathy Following Adrenalectomy for Cushing Syndrome: A Case Report.

Internal medicine (Tokyo, Japan)
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Increased Risk of Postoperative Complications Following Total Knee Arthroplasty in Patients Who Have Metabolic Syndrome.

The Journal of arthroplasty
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The emerging role of integrin signaling in pulmonary vascular disease.

American journal of physiology. Lung cellular and molecular physiology
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Screening for obstructive sleep apnea in an Afro-Caribbean Population: Diagnostic performance of common questionnaires compared with respiratory polygraphy - The MASOS Study A prospective, cross-sectional, descriptive, and analytical study.

Sleep &amp; breathing = Schlaf &amp; Atmung
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Nutritional and Metabolic Characteristics of Overweight Women with Polycystic Ovary Syndrome (PCOS): A Case-Control Study.

La Tunisie medicale
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Albuminuria Prevalence Among US Adults With Cardiovascular-Kidney-Metabolic Syndrome.

Journal of the American Heart Association
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Inflammatory Hilar Mass and Cavernous Transformation in Disseminated Histoplasmosis: A Rare Cause of Noncirrhotic Portal Hypertension.

ACG case reports journal
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Sintilimab plus anlotinib in later-line treatment of advanced KRAS-mutant NSCLC: a multicenter, retrospective case series.

Frontiers in medicine
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Acute Myocardial Infarction Secondary to Triple Vessel Coronary Artery Disease in a 31-year-old Female with Systemic Lupus Erythematosus: Case Report and Review of Literature.

Acta medica Philippina
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A Study on Gallbladder Carcinoma With Special Reference to Risk Factors.

Cureus
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Myelodysplastic syndromes and risk of kidney function decline: findings from a nationwide Japanese cohort study.

Clinical kidney journal
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A multicentre analysis of efficacy, safety and molecular response correlates of fostamatinib in warm autoimmune haemolytic anaemia and Evans syndrome.

British journal of haematology
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Calcium supplementation for prevention of pre-eclampsia in high-risk women: study protocol for a randomised triple-blind placebo-controlled trial (CaPE).

Trials
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Laparoscopic application of intraoperative fascial traction (fasciotensⓇHernia) during loss of domain scrotal hernia repair: A European multicenter case series with technical details and preliminary results.

Hernia : the journal of hernias and abdominal wall surgery
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Severe renovascular hypertension in an infant with a SMAD3 gene variant.

Pediatric nephrology (Berlin, Germany)
2026

[Once upon a time in nephrology - Episode 3: A brief history of preeclampsia].

Nephrologie &amp; therapeutique
2026

Monochorionic twin pregnancies conceived through assisted reproduction: Maternal and perinatal clinical outcomes.

Acta obstetricia et gynecologica Scandinavica
2026

Exercise for treatment and prevention of post-pulmonary embolism syndrome: A review.

Vascular medicine (London, England)
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Maternal Morbidity and Complications in Hemolysis, Elevated Liver Enzymes, and Low Platelet Count (HELLP) Syndrome: A Retrospective Case Series.

Cureus
2026

SPP1high fibrogenic macrophages mediate protective fibrotic remodeling and promote vascular stability in hypertension-associated aortic dissection.

BMC medicine
2026

Twin-to-twin transfusion syndrome and neonatal acute kidney injury after selective fetoscopic laser photocoagulation.

Pediatric nephrology (Berlin, Germany)
2026

Comparative seven year outcomes of RYGB and SADI-S as revisional procedures for weight recurrence regain after sleeve gastrectomy: weight loss trajectory, reflux control, and metabolic safety.

Surgical endoscopy
2026

Idiopathic intracranial hypertension patients can be effectively managed using an OCT-based telemedicine model.

Eye (London, England)
2026

High-grade follicular B-cell lymphoma-associated C3 rapidly progressive glomerulonephritis: a rare association.

BMJ case reports
2026

Development of a collaborative chronic care model for management of cardiometabolic disease in low- and middle-income countries.

PloS one
2026

An unusual presentation of portal biliopathy manifesting as chronic abdominal pain as a delayed post-splenectomy complication: a case report.

International journal of surgery case reports
2026

Bouveret syndrome: proximal bowel obstruction by a gall stone-case report.

International journal of surgery case reports
2026

Effect of deep analgosedation vs. intubated general anesthesia on perioperative sedation-related adverse events in older adults undergoing ERCP: protocol for a randomized controlled trial.

Frontiers in medicine
2026

Differential cardiometabolic outcomes of leuprolide versus spironolactone in women with polycystic ovary syndrome.

Proceedings (Baylor University. Medical Center)
2026

Cross-sectional study exploring the characteristics of hospitalized patients admitted for acute pancreatitis who develop abdominal compartment syndrome in US hospitals.

Proceedings (Baylor University. Medical Center)
2026

Case Report: Endothelial-targeted bridging therapy for a TTP-like phenotype in fulminant iMCD-TAFRO.

Frontiers in immunology
2026

Impact of glucose metabolism abnormalities on live birth rate in South-East Asian women with polycystic ovary syndrome.

Human reproduction open
2026

Electrocardiographic Profile of Adult Patients with Coronavirus Disease (COVID-19) who were Given Remdesivir and Admitted in the University of the Philippines-Philippine General Hospital (UP-PGH).

Acta medica Philippina
2026

Rituximab-Associated Posterior Reversible Encephalopathy Syndrome in Severe Hydralazine-Induced Antineutrophil Cytoplasmic Antibody Vasculitis: An Unexpected Complication.

Cureus
2026

Non-Extremity Thrombosis Sequelae in Children: Screening, Diagnosis, and Management.

Journal of thrombosis and haemostasis : JTH
2026

[Latent class analysis of ICU-acquired weakness in mechanically ventilated patients and its influencing factors].

Zhonghua wei zhong bing ji jiu yi xue
2026

Therapeutic and Side Effects of Enoxaparin over Heparin on Acute Coronary Syndrome Patients in Bali.

Current cardiology reviews
2026

Stable Gastric Pentadecapeptide BPC 157 as a Therapy of Severe Electrolyte Disturbances in Rats.

Current neuropharmacology
2026

Bardet-Biedl syndrome in two sibling pairs: a case series.

Journal of medical case reports
2026

Respond to "comments and opinions regarding "High antiphospholipid antibody titers and outcomes of pulmonary endarterectomy: a single-center retrospective observational cohort study" by Miard et al.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation
2026

Soluble endoglin as a biomarker of cardiovascular and metabolic disorders related to endothelial dysfunction: a systematic review and meta-analysis.

Atherosclerosis
2026

Effect of orlistat and anti-androgen oral contraceptives on pregnancy outcomes in overweight or obese PCOS patients during comprehensive management.

Archives of gynecology and obstetrics
2026

Association Between Metabolic Syndrome and Psychiatric Morbidity in a Nationwide Taiwanese Population Study.

Nutrients
2026

Selenoprotein P Deficiency Is Associated with Early Signs of Kidney Disease and Hospitalization Risk in Heart Failure.

Nutrients
2026

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

International journal of molecular sciences
2026

Melatonin as a Redox Modulator in Developmental Programming: Implications for Cardiovascular-Kidney-Metabolic Risk.

International journal of molecular sciences
2026

Definition, Prevalence and Management of Dyslipidemia in Patients and Survivors of Childhood and Adolescent Cancer-A Systematic Review.

Cancers
2026

Non-HDL Cholesterol and Residual Cardiometabolic Risk in Middle Eastern Patients with Atherosclerotic Cardiovascular Disease.

Healthcare (Basel, Switzerland)
2026

Posterior Reversible Encephalopathy Syndrome in Peritoneal Dialysis Patients: A Four-Case Series.

Journal of clinical medicine
2026

Preeclampsia: Contemporary Concepts in Pathophysiology, Risk Stratification, Prevention and Monitoring.

Journal of clinical medicine
2026

Impact of Transcatheter Mitral and Tricuspid Valve Repair on Hepatic Function and Outcomes in Patients with Cirrhosis or Advanced Liver Disease-A Personalized Approach.

Journal of clinical medicine
2026

Health-Related Quality-of-Life and its Determinants After Acute Coronary Syndrome Caused by Spontaneous Coronary Artery Dissection.

Heart, lung &amp; circulation
2026

Rare and emerging arterial diseases of the supra-aortic trunks: Diagnostic and therapeutic insights.

Vascular diseases (Paris, France)
2026

One-Hour Plasma Glucose and Early Cardiometabolic Risk in Normoglycaemic Women With Polycystic Ovary Syndrome: A Retrospective Cross-Sectional Study.

BJOG : an international journal of obstetrics and gynaecology
2026

Body composition paradox: high muscle mass and adiposity jointly predict incident chronic kidney disease in a Korean cohort.

Clinics (Sao Paulo, Brazil)
2026

Management of pediatric patients with moyamoya arteriopathy and middle aortic syndrome: a retrospective single-institution case series.

Journal of neurosurgery. Pediatrics
2026

Genetic association and potential mediators between metabolic syndrome and chronic obstructive pulmonary disease: A Mendelian randomization study.

Medicine
2026

Diagnostic and discriminative value of inflammatory biomarkers in differentiating aortic aneurysm and dissection: A retrospective comparative study.

Medicine
2026

Genetic Variants Associated with Persistent Pulmonary Hypertension of Newborn: A Systematic Review.

Neonatology
2026

Impact of Metabolic Syndrome on Cataracts: A Systematic Review and Meta-Analysis.

Metabolic syndrome and related disorders
2026

Correlation between multi-parameter echocardiographic indicators and adverse pregnancy outcomes in women of advanced maternal age with pregnancy-induced hypertension syndrome: clinical application value.

Frontiers in medicine
2026

The Urgent Need for Cardiometabolic Health Training: A Call to Action.

Cureus
2026

Incidentally Discovered Adrenal Mass With Mild Autonomous Cortisol Secretion and Pheochromocytoma.

Cureus
2026

A Diagnostic Pitfall: Carbamazepine-Induced Drug Reaction With Eosinophilia and Systemic Symptoms (DRESS) Syndrome Masquerading As Angiotensin-Converting Enzyme Inhibitor Angioedema.

Cureus
2026

Cushing syndrome of different etiologies - cardiometabolic complications, venous thromboembolic events and mortality: data from ERCUSYN Krakow database.

Frontiers in endocrinology
2026

Efficacy of cilastatin sodium in a translational large animal crush syndrome model.

Communications medicine
2026

The REDD1-NF-κB-miRNAs-eNOS/SIRT1 axis mediates obesity-induced endothelial cell senescence and hypertension.

Nature communications
2026

[Guidelines for the diagnosis and treatment of obstructive sleep apnea in adults (2025)].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2026

Protocol for an open-label, randomised, controlled trial to evaluate the efficacy and safety of sotatercept add-on therapy compared with pulmonary vasodilator-based standard of care for pulmonary vasodilator-resistant pulmonary arterial hypertension associated with unrepaired congenital shunts (atrial septal defect, ventricular septal defect or patent ductus arteriosus), including Eisenmenger syndrome: the SuMILE trial.

BMJ open
2026

Incidence of intra-abdominal hypertension after liver transplantation with temporary portocaval shunt - A prospective cohort.

Clinics (Sao Paulo, Brazil)
2026

ENAC blockade reduces blood pressure and arterial stiffness in adults with obesity and insulin resistance.

American journal of physiology. Heart and circulatory physiology
2026

Splenic Artery Embolization: Tips, Tricks, and Current Standards of Practice.

Radiographics : a review publication of the Radiological Society of North America, Inc
2026

Distinct Risk Profiles in Posterior vs Anterior Circulation Strokes: A Prospective Study from Western India.

The Journal of the Association of Physicians of India
2026

Role of β-Blockers Across the Cardiovascular Continuum: A Real-World Perception Survey (ROBUST).

The Journal of the Association of Physicians of India
2026

Machine Learning-Based Risk Prediction Models for Pregnancy-Related Syndromes.

Birth defects research
2026

Ageing with Haemophilia: Comorbidities in Focus.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie
2026

cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.

Frontiers in endocrinology
2026

A randomized control trial comparing the clinical outcome of thyroxine supplementation in thyroid peroxide antibody- negative cases in patients with subclinical hypothyroidism in pregnancy.

Journal of family medicine and primary care
2026

Diagnosis and management of mirror syndrome: a case series with emphasis on the potential role of the sFLT-1/PlGF ratio in clinical practice.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia
2026

Sotatercept in Patients With Eisenmenger Syndrome.

Pulmonary circulation
2026

Hidden Cardiovascular Risk: Early Menopause Triggering Acute Coronary Syndrome (ACS) in Young Patients.

Cureus
2026

The association between breastfeeding and prevalence of metabolic syndrome in women with a previous major pregnancy complication.

Frontiers in global women's health
2026

Causal relationship between metabolic syndrome and gastric cancer: insights from comprehensive analysis and biomarker identification.

Translational cancer research
2026

[Study on mechanism of Jiedu Huxin Formula protecting against heart failure caused by hypertension by regulating TGF-β1/p38 MAPK/NF-κB pathway based on network pharmacology and experimental validation].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

The effect of gestational diabetes on maternal and neonatal outcomes.

Taiwanese journal of obstetrics &amp; gynecology
2026

Pulmonary hypertension associated with nonparenchymal restrictive lung diseases.

European respiratory review : an official journal of the European Respiratory Society
2026

Effects of Metabolic Syndrome on Cardiovascular Outcomes in Non-Obese Heart Failure Patients.

ESC heart failure
2026

The impact of metabolic syndrome on regional ventilation and perfusion in ARDS: an observational cohort study using electrical impedance tomography.

Intensive care medicine experimental
2026

Factors predicting the outcome of patients admitted with COVID-19 infection at Pietersburg Hospital, Polokwane, Limpopo province.

Southern African journal of infectious diseases
2026

Sex-Specific Cardiometabolic Phenotypes of Metabolic Syndrome Identified by Latent Class Analysis in Indian Adults.

International journal of applied &amp; basic medical research
2026

Risk factor analysis for septic shock in female patients after mini-percutaneous nephrolithotripsy.

Translational andrology and urology
2026

Thrombaxane-B2 as a predictor marker of atrial fibrillation.

International journal of cardiology. Cardiovascular risk and prevention
2026

The epidemiology of cubital tunnel syndrome: a UK Biobank case-control study.

The Journal of hand surgery, European volume
2026

Unrepaired Truncus Arteriosus Type 1 With Eisenmenger Syndrome and Recurrent Embolic Strokes: An Adult Case Report.

The American journal of case reports
2026

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.

Orphanet journal of rare diseases
2026

Are there disparities in cerebral sinus venous thrombosis between the Arab and Jewish populations in Israel - a multicenter cohort study?

Journal of the neurological sciences
2026

Bridging Population Patterns and Individual Prediction: Framework for Prospective Multimorbidity Study.

JMIR medical informatics
2026

Chronic Inflammation as an Overlooked Link Between Cardiovascular and Kidney Disease: A Focus on Interleukin-6 and C-Reactive Protein.

Clinical journal of the American Society of Nephrology : CJASN
2025

[Diagnosis and treatment of Budd-Chiari syndrome (literature review)].

Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery
2026

Linezolid-induced Posterior Reversible Encephalopathy Syndrome: A Case Report and Review of the Literature.

Clinical neuropharmacology
2026

When Back Pain Is Cardiac: Spontaneous Coronary Artery Dissection in a Male Patient.

Cureus
2026

A Multicentre Survey of Paediatric Critical Care Nurses' Awareness, Knowledge and Practice of Intra-Abdominal Hypertension and Abdominal Compartment Syndrome.

Nursing in critical care
2026

Renal artery stenosis in heart failure: the overlooked cardiorenal culprit?

European journal of heart failure
2026

Mapping dementia research in Indonesia: A scoping review of evidence, gaps, and future directions.

PLOS global public health
2026

Risk stratification for adult patients with pulmonary arterial hypertension associated with congenital heart disease. A scientific statement of the ESC Working Group on Pulmonary Circulation & Right Ventricular Function, the ESC Working Group on Adult Congenital Heart Disease, and the Association of Cardiovascular Nursing & Allied Professions of the ESC.

European journal of heart failure
2026

Pulmonary Artery Denervation for Refractory Sjögren's Syndrome-Associated Pulmonary Arterial Hypertension: A Case Report of Combined Hemodynamic and Renal Recovery.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2026

Obesity indices as predictors of metabolic syndrome: 1-year findings from a Peruvian cohort of private educational institution workers.

Therapeutic advances in endocrinology and metabolism
2026

Heart failure associated with renal artery stenosis and Pickering syndrome: the critical role of endovascular revascularization: a case series and meta-analysis.

Clinical hypertension
2026

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report.

SAGE open medical case reports
2026

Case report: Hemodynamic dynamics in central variant PRES via serial ASL/DTI.

Neuroimage. Reports
2026

Peripheral arterial lesions detected by vascular ultrasound and their association with aortic events in heritable thoracic aortic diseases.

International journal of cardiology. Heart &amp; vasculature
2026

Current Trends and Future Perspectives of Bradycardia, Renal Failure, Atrioventricular Nodal Blockade, Shock, and Hyperkalemia (BRASH) Syndrome: A Narrative Review.

Cureus
2026

Herpes Simplex Virus Encephalitis With Cerebellar Infarction and Cortical Laminar Necrosis.

Cureus
2026

Abdominal Compartment Syndrome Following Massive Transfusion in Upper Gastrointestinal Bleeding: A Case Report.

Cureus
2026

A Case of Posterior Reversible Encephalopathy Syndrome With Single-Agent Weekly Paclitaxel.

Cureus
2026

Cardiac Complications in Systemic Lupus Erythematosus: A Systematic Review of Diagnostic and Prognostic Gaps.

Cureus
2026

Using Orbital Atherectomy in ST-Elevation Myocardial Infarction: A Case Report From a Nonsurgical Centre.

Case reports in cardiology
2026

Successful prosthetic graft replacement for middle aortic syndrome in a 9-year-old child.

Cardiology in the young
2026

Do different organ involvements cause different comorbidity profiles in Behçet's syndrome?

Postgraduate medicine
2026

BMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.

American journal of medical genetics. Part A
2026

Association between the oxidative balance score and depressive symptoms in adults with metabolic syndrome: a cross-sectional study from NHANES.

BMC psychiatry
2026

Integrated metabolomics and metagenomics analysis identifies a unique signature characterizing metabolic syndrome.

The Journal of nutritional biochemistry
2026

Simultaneous Ureteral Ligation at the Time of Pediatric Kidney Transplantation: A Technical Report.

Pediatric transplantation
2026

Treatment-resistant arterial hypertension revealing giant cell arteritis: A case report.

The American journal of medicine
2026

Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.

Clinical journal of the American Society of Nephrology : CJASN
2026

Metabolic syndrome and venous thromboembolism: the role of abdominal obesity and sex differences.

Journal of thrombosis and thrombolysis
2026

[Postthrombotic syndrome: an update].

Dermatologie (Heidelberg, Germany)
2026

Epidemiology and Clinical Characteristics of Fatty Pancreas Disease in Metabolic Dysfunction-Associated Steatotic Liver Disease: A Systematic Review.

Journal of gastroenterology and hepatology
2026

Decoding lung-kidney interactions in sepsis: an integrated view of molecular mechanisms, pathophysiology, and therapeutic interventions.

Frontiers in immunology
2026

Multi-dimensional evidence establishing the causal association between metabolic syndrome and gout and the molecular mechanisms of comorbidity.

Frontiers in immunology
2026

Glycaemic Variability and Its Outcome in Intensive Care Unit Patients with Sepsis.

Journal of the West African College of Surgeons
2026

Hypercapnia as a Key Mechanism in the Development of Pulmonary Hypertension in Malignant Pertussis: A Case Report.

Respirology case reports
2026

Emerging roles of spexin in cardiovascular homeostasis.

Frontiers in cardiovascular medicine
2026

Rapid Treatment With Veno-Venous Extracorporeal Membrane Oxygenation in a Patient Who Developed Acute Respiratory Distress Syndrome After Drowning.

Cureus
2026

A Presumed Dysphagia Aortica in a Siamese Cat.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2026

Prognostic scores for early mortality following transjugular intrahepatic portosystemic shunt insertion: external validation in a contemporary Australian cohort.

Internal medicine journal
2026

Diagnostic Implications of the Endocrine Society and American Academy of Pediatrics Guidelines on blood pressure: associations with sex, blood pressure components, and metabolic syndrome in Korean Adolescents.

Annals of pediatric endocrinology &amp; metabolism
2026

Platypnea-orthodeoxia syndrome treated by percutaneous patent foramen ovale closure: a case report and review of the literature.

Journal of medical case reports
2026

Temporary tracheotomy in transoral robotic surgery (TORS): from a retrospective single-center analysis to a proposal of a decision-making algorithm.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2026

Developing and Validating the CE-MACE Model to Predict One-Year Major Adverse Cardiovascular Events Post COPD Exacerbation Using Routine Healthcare Data.

The European respiratory journal
2026

The Clinical Spectrum and Management of Ectopic Cushing's Syndrome: A 12-Year Single-Center Experience.

Experimental and clinical endocrinology &amp; diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
2026

[Screening for albuminuria to assess cardiovascular risk].

Revue medicale suisse
2026

From post-infectious glomerulonephritis to complement-mediated aHUS: a diagnostic challenge.

Pediatric nephrology (Berlin, Germany)
2026

Cardiovascular risk profiles in patients with primary sclerosing cholangitis.

European journal of gastroenterology &amp; hepatology
2026

Coexistence of hepatopulmonary syndrome and portopulmonary hypertension before a liver transplantation: a case report and review of the literature.

European journal of gastroenterology &amp; hepatology
2026

Hematologic disorders in pregnancy: the role of the complement system.

Expert review of hematology
2026

Mechanisms Linking Sleep-Disordered Breathing and Cardiometabolic Disease Risk.

Arteriosclerosis, thrombosis, and vascular biology
2026

Daratumumab for Treatment of Refractory Podocytopathy: A Case Report.

Kidney medicine
2026

Routine Blood and Cerebrospinal Fluid Markers in Newly Diagnosed Idiopathic Intracranial Hypertension: An Exploratory Case-Control Study.

Eye and brain

Associações

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Comunidades

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Doenças relacionadas

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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. Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
    Frontiers in pediatrics· 2026· PMID 41878457mais citado
  2. Adjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.
    European journal of gastroenterology &amp; hepatology· 2026· PMID 41870909mais citado
  3. Neonatal hypoxic-ischemic encephalopathy online registry in Shenzhen: protocol for a multicentre, prospective, open, observational cohort study.
    BMJ open· 2026· PMID 41857827mais citado
  4. Long-term relief of CRPS-associated limb dystonia with ketamine infusion.
    BMJ case reports· 2026· PMID 41856690mais citado
  5. Mycophenolate mofetil versus prednisone for the initial treatment of idiopathic steroid-sensitive nephrotic syndrome in children in Germany (INTENT): a multicentre, open-label, randomised, controlled, parallel-group, non-inferiority, phase 3 trial.
    The Lancet. Child &amp; adolescent health· 2026· PMID 41856160mais citado
  6. Decoding Monogenic Hypertension: A Review of Rare Hypertension Disorders.
    Am J Hypertens· 2025· PMID 39803890recente
  7. Personal Genetic-Hypertension Odyssey From Phenotypes to Genotypes and Targets.
    Hypertension· 2024· PMID 39355912recente
  8. Reversal of cardiac and renal damage in a teenager with hypertension: A case report.
    J Clin Hypertens (Greenwich)· 2024· PMID 38319596recente
  9. Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage.
    Hypertension· 2023· PMID 37035914recente
  10. Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
    Circulation· 2022· PMID 36259389recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1276(Orphanet)
  2. OMIM OMIM:112410(OMIM)
  3. MONDO:0007211(MONDO)
  4. GARD:967(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q30314087(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

Compêndio · Raras BR

Síndrome de braquidactilia-hipertensão arterial

ORPHA:1276 · MONDO:0007211
Prevalência
<1 / 1 000 000
Casos
10 casos conhecidos
Herança
Autosomal dominant
CID-10
Q73.8 · Outros defeitos por redução de membro(s) não especificado(s)
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1862170
Repurposing
141 candidatos
acebutololadrenergic receptor antagonist
alaceprilangiotensin converting enzyme inhibitor
aliskiren-hemifumaraterenin inhibitor
+17 outros
Wikidata
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