Fresh (PHresh). Less than 1-2 years since publication

Are NONO Variants Linked to Congenital Heart Disease? Patient Reports and Review

Peiqing He, Sini Zou, Jianxiong Chen, Meiyi Wang, Peng Lin, Jiwu Lou, Zhanying Ma, Zhen Li, Tizhen YanDongguan Maternal and Child Health Care Hospital. China European Journal of Medical GeneticsEur J Med Genet 2025; DOI: 10.1016/j.ejmg.2025.105060 AbstractPathogenic variants in the NONO gene (MIM #300084) are responsible for X-linked syndromic intellectual developmental disorder-34 (MRXS34, MIM #300967) characterized […]

Are NONO Variants Linked to Congenital Heart Disease? Patient Reports and Review Read More »

Dermatologic findings in hereditary hemorrhagic telangiectasia: association with epistaxis, visceral involvement, and genetics

Andrea Michelerio, Giuseppe Spinozzi, Chiara Giorgini, Carla Olivieri, Annalisa de Silvestri, Fabio Pagella, Camilla VassalloUniversity of Pavia. Fondazione IRCCS Policlinico San Matteo. Italy Italian Journal of Dermatology and VenereologyItal J Dermatol Venereol 2025; DOI: 10.23736/S2784-8671.25.08225-8 AbstractBackground: Hereditary hemorrhagic telangiectasia (HHT) is a genetic vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations (AVMs). Despite the

Dermatologic findings in hereditary hemorrhagic telangiectasia: association with epistaxis, visceral involvement, and genetics Read More »

De novo variant in RING finger protein 213 causes systemic vasculopathy

Ayako Kashimada, Tomoko Mizuno, Eriko Tanaka, Susumu Hosokawa, Tomohiro Udagawa, Yuichi Hiraoka, Keisuke Uchida, Tomohiro Morio, Kenjiro Kosaki, Masatoshi TakagiInstitute of Science Tokyo. Kyorin University. Keio University.Japan Journal of Clinical Investigation InsightJCI Insight 2025; DOI: 10.1172/jci.insight.190094 AbstractSystemic arterial stenosis, including moyamoya disease (MMD) and middle aortic syndrome (MAS), is a rare condition of unclear etiology. MMD

De novo variant in RING finger protein 213 causes systemic vasculopathy Read More »

Pulmonary vascular complications in children who survive long-term after Kasai portoenterostomy for biliary atresia: a narrative review

Jie Zhang, Gong ChenChildren’s Hospital of Fudan University.China World Journal of Pediatric SurgeryWorld J Pediatr Surg 2025; 8: DOI: 10.1136/wjps-2025-001067 AbstractFollowing Kasai portoenterostomy for biliary atresia (BA), long-term survival in children is associated with chronic liver cirrhosis leading to hepatopulmonary syndrome (HPS) and portopulmonary hypertension (PoPH). This further causes a diverse array of respiratory and circulatory

Pulmonary vascular complications in children who survive long-term after Kasai portoenterostomy for biliary atresia: a narrative review Read More »

Pulmonary arterial hypertension increases the risk of female sexual dysfunction: a systematic review and meta-analysis

Xiaoyu. Qiao, Danyan Su, Suyuan Qin, Lifeng Shang, Liu Luo, Yusheng PangFirst Affiliated Hospital of Guangxi Medical University and Pediatric Clinical Medical Research Center of Guangxi.China Journal of Sexual MedicineJ Sex Med 2025; DOI: 10.1093/jsxmed/qdaf294 AbstractBackground: An increasing body of research has investigated the sexual functioning status in women with pulmonary arterial hypertension (PAH); yet, the evidence

Pulmonary arterial hypertension increases the risk of female sexual dysfunction: a systematic review and meta-analysis Read More »

One-stage relief of bilateral outflow tract obstruction and left main coronary ostial stenosis in an infant with Williams syndrome: the technique

Ali H. Mashadi, Yasin Essa & Sameh M. SaidMaria Fareri Children’s Hospital and Westchester Medical Center.United States Multimedia Manual of Cardio-Thoracic SurgeryMultimed Man Cardiothorac Surg 2025; DOI: 10.1510/mmcts.2024.117 AbstractA 3-month-old, 5.2-kg infant with Williams syndrome presented with failure to thrive and a systolic murmur. He was taken to the cardiac catheterization laboratory for a planned pulmonary

One-stage relief of bilateral outflow tract obstruction and left main coronary ostial stenosis in an infant with Williams syndrome: the technique Read More »

Kidney and vascular involvement in Alagille syndrome

Bruno Ranchin, Marie‑Noelle Meaux, Malo Freppel, Mathias Ruiz, Aurelie De MulHôpital Femme Mère Enfant, Hospices Civils de Lyon and Université de Lyon.France Pediatric NephrologyRediatr Nephrol 2025; 40: 891-899DOI: 10.1007/s00467-024-06562-8 AbstractAlagille syndrome (ALGS) is an autosomal dominant, multisystemic disease with a high interindividual variability. The two causative genes JAG1 and NOTCH2 are expressed during kidney development, can

Kidney and vascular involvement in Alagille syndrome Read More »

Establishment of a neonatal rat model of sequential hyperoxic hypoxia to recapitulate clinical progression of bronchopulmonary dysplasia-associated pulmonary hypertension

Dan Wang, Siqi Hu, Jingke Cao, Haoqin Fan, Ye Ma, Fan Yang, Changgen Liu, Shanghong Tang, Zhichun Feng, Yunbin Xiao, Qiuping LiAffiliated Children’s Hospital of Xiangya School of Medicine and Central South University (Hunan Children’s Hospital). Seventh Medical Center of PLA General Hospital. Second School of Clinical Medicine and Southern Medical University. Shenzhen Baoan Women’s

Establishment of a neonatal rat model of sequential hyperoxic hypoxia to recapitulate clinical progression of bronchopulmonary dysplasia-associated pulmonary hypertension Read More »

Use of milrinone in pediatric intensive care units: a multicenter survey of French-speaking countries

Florian Manoeuvrier, Morgan Recher, Marion Grimaud, Sylvain Renolleau, Olivier Brissaud, Stéphane Leteurtre, Mehdi Oualha, Charles de Marcellus, Groupe Francophone de Réanimation et d’Urgence PédiatriquesCentre-Université de Paris and Necker-Enfants Malades. CHU Amiens-Picardie. Univ.ersity of Lille and CHU Lille. CHU Bordeaux and Pellegrin-Enfants Hospital. France European Journal of PediatricsEur J Pediatr 2025; 184: DOI: 10.1007/s00431-025-06589-5 AbstractPurpose: To assess the

Use of milrinone in pediatric intensive care units: a multicenter survey of French-speaking countries Read More »

Congenital Diaphragmatic Hernia – Is there a sex specific severity phenotype?

Angeo Zarfati, Luca Pio, Arimatias Raitio, Ahmed Abu-Zaid, Khadidja Khadir, Alexandra Benachi, Paul D. LostyUniversité Paris-Saclay, Assistance Publique – Hôpitaux de Paris (AP-HP), Bicêtre Hospital. University of Rome Tor Vergata. Centre de Référence Maladie Rare. University of Turku and Turku University Hospital. Alfaisal University. Antoine Béclère Hospital. University of Liverpool. Ramathibodi Hospital, Mahidol, Mahidol University.France,

Congenital Diaphragmatic Hernia – Is there a sex specific severity phenotype? Read More »

Scroll to Top