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Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease

中华医学杂志(英文版) 2024年第15期

作者： Gao Han Huang Xianghui Chen Weicheng Feng Zhiyu Zhao Zhengshan Li Ping Tan Chaozhong Wang Jinxin Zhuang Quannan Gao Yuan Min Shaojie Yao Qinyu Qian Maoxiang Ma Xiaojing Wu Feizhen Yan Weili Sheng Wei Huang Guoying Children’s Hospital of Fudan University Shanghai China Shanghai Key Laboratory of Birth Defects Shanghai China Fujian Key Laboratory of Neonatal Diseases Xiamen Children’s Hospital Xiamen Fujian China Research Unit of Early Intervention of Genetically Related Childhood Cardiovascular Diseases Chinese Academy of Medical Sciences Shanghai China

Background: heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/***: Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern. Potential candidate genes in CNVs region were prioritized via the DECIPHER database, andPNPLA4 was identified as the leading candidate gene. To validate, we generatedPNPLA4-overexpressing human induced pluripotent stem cell lines as well aspnpla4-overexpressing zebrafish model, followed by a series of transcriptomic, biochemical and cellular ***: Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients (12.5%). Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort, andPNPLA4 in the Xp22.31 was a candidate gene associated with HTX/***4 is expressed in the lateral plate mesoderm, which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation, and in the neural crest cell lineage. Through a series ofin vivo andin vitro analyses at the molecular and cellular levels, we revealed that the biological function ofPNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP ***: Our findings demonstrated a significant association between CNVs and HTX/CHD. Our data strongly suggested that an increased genetic dose ofPNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD.

关键词： PNPLA4 Copy number variations X-chromosome heterotaxy Congenital heart diseases

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Single institution experience with the Ladd's procedure in patients with heterotaxy and stage Ⅰ palliated single-ventricle

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World Journal of Clinical Pediatrics 2016年第3期5卷 319-324页

作者： Kurt D Piggott Grace George Harun Fakioglu Carlos Blanco Sukumar Saguna Narasimhulu Kamal Pourmoghadam Hamish Munroe William Decampli the Heart Center at Arnold Palmer Hospital for Children Pediatric Cardiac Intensive Care Medicine

AIM:To investigate and describe our current institutional management protocol for single-ventricle patients who must undergo a Ladd's ***:We retrospectively reviewed the charts of all patients from January 2005 to March 2014 who were diagnosed with heterotaxy syndrome and an associated intestinal rotation anomaly who carried a cardiac diagnosis of functional single ventricle and were status post stage I palliation.A total of 8 patients with a history of stage I single-ventricle palliation underwent Ladd's procedure during this time *** reviewed each patients chart to determine if significant intraoperative or post-operative morbidity or mortality *** also described our protocolized management of these patients in the cardiac intensive care unit,which included pre-operative labs,echocardiography,milrinone infusion,as well as protocolized fluid administration and anticoagulation *** also reviewed the literature to determine the reported morbidity and mortality associated with the Ladd's procedure in this particular cardiac physiology and if other institutions have reported protocolized care of these ***:A total of 8 patients were identified to have heterotaxy with an intestinal rotation anomaly and single-ventricle heart disease that was status post single ventricle *** of these patients were palliated with a Blaylock-Taussig shunt,one of whom underwent a Norwood *** two other patients were palliated with a stent,which was placed in the ductus *** eight patients all underwent elective Ladd's procedure at the time of gastrostomy tube *** our protocol,all patients remained on aspirin prior to surgery and had no period where they were without *** patients remained on milrinone during and after the procedure and received fluid administration upon arrival to the cardiac intensive care unit to account for *** 8 patients experienced no intraoperative or post-o

关键词： Congenital heart disease heterotaxy Single-ventricle Pediatrics Ladd’s procedure Congenital heart disease

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Intestinal microbiome changes in an infant with right atrial isomerism and recurrent necrotizing enterocolitis:A case report and review of literature

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World Journal of Clinical Cases 2022年第29期10卷 10583-10599页

作者： Aleksandra Kaplina Ekaterina Zaikova Artem Ivanov Yulia Volkova Tatiana Alkhova Vladimir Nikiforov Alexander Latypov Marina Khavkina Tatiana Fedoseeva Tatiana Pervunina Yulia Skorobogatova Svetlana Volkova Vladimir Ulyantsev Olga Kalinina Stanislav Sitkin Natalia Petrova Research Laboratory of Physiology and Diseases of Newborns Almazov National Medical Research CentreSt.Petersburg 197341Russia Research Laboratory of Autoimmune and Autoinflammatory Diseases Almazov National Medical Research CentreSt.Petersburg 197341Russia Vladimir Ulyantsev International Laboratory of Computer TechnologiesITMO UniversitySt.Petersburg 197101Russia Department of Cardiovascular Surgery for Children Almazov National Medical Research CentreSt.Petersburg 197341Russia Department of Neonatal Physiology with an ICU Ward Almazov National Medical Research CentreSt.Petersburg 197341Russia Pediatric Cardiac Intensive Care Unit Almazov National Medical Research CentreSt.Petersburg 197341Russia Neonatal and Preterm Special Care Unit(2nd Stage Care) Almazov National Medical Research CentreSt.Petersburg 197341Russia Institute of Perinatology and Pediatrics Almazov National Medical Research CentreSt.Petersburg 197341Russia Express Laboratory of Perinatal Centre Almazov National Medical Research CentreSt.Petersburg 197341Russia Clinical Diagnostic Laboratory Almazov National Medical Research CentreSt.Petersburg 197341Russia Epigenetics and Metagenomics Group Institute of Perinatology and PediatricsAlmazov National Medical Research CentreSt.Petersburg 197341Russia Department of Internal Diseases Gastroenterology and DieteticsNorth-Western State Medical University named after I.I.MechnikovSt.Petersburg 191015Russia

BACKGROUND Necrotizing enterocolitis(NEC)is a multifactorial disease that predominantly affects premature *** dysbiosis plays a critical role in NEC pathogenesis in premature *** main risk factor for NEC in term infants is mesenteric hypoperfusion associated with ductaldependent congenital heart disease(CHD)that eventually leads to intestinal *** incidence of NEC in neonates with critical CHD is 6.8%-13%.However,the role of the intestinal microbiome in NEC pathogenesis in infants with ductal-dependent CHD remains *** SUMMARY A male term neonate with right atrial isomerism underwent modified Blalock-Taussig shunt placement on the 14^(th)day of life and had persistent mesenteric hypoperfusion after *** patient had episodes of NEC stageⅡA on the 1^(st)and 28^(th)days after cardiac *** microbial composition was analyzed before and after cardiac surgery by sequencing region V4 of the 16S rRNA *** surgery,species belonging to genera Veillonella and Clostridia and class Gammaproteobacteria were detected,Bifidobacteriaceae showed a low *** first NEC episode was associated with postoperative hemodynamic instability,intestinal ischemiareperfusion injury during cardiopulmonary bypass,and a high abundance of Clostridium paraputrificum(Clostridium sensu stricto I)(56.1%).Antibacterial therapy after the first NEC episode resulted in increased abundance of Gammaproteobacteria,decreased abundance of Firmicutes,and low alpha *** changes in the microbial composition promoted the growth of Clostridium sensu strictoⅠ(72.0%)before the second NEC *** A high abundance of Clostridium sensu strictoⅠand mesenteric hypoperfusion may have contributed to NEC in the present case.

关键词： Necrotizing enterocolitis Congenital heart disease Ivemark syndrome heterotaxy Right atrial isomerism Intestinal microbiome Case report

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Clinical spectrum of primary ciliary dyskinesia in childhood

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World Journal of Clinical Pediatrics 2016年第1期5卷 57-62页

作者： Andrew Fretzayas Maria Moustaki 3rd Department of Pediatrics "Attikon" University Hospital Athens University School of Medicine

Although the triad of bronchiectasis, sinusitis and situs inversus was first described by Kartagener in 1933, the clinical spectrum of primary ciliary dyskinesia is still under investigation. heterotaxy defects as well as upper and lower respiratory tract symptoms are the main manifestations in childhood. It is now recognized that situs inversus is encountered in only half of patients. The first lower respiratory symptoms may be present from infancy as neonatal respiratory distress. The most common lower airway manifestations are chronic wet cough, recurrent pneumonia and therapy resistant wheezing. Patients are at risk of developing bronchiectasis which may even be the presenting finding due to delayed diagnosis. Upper respiratory tract infections such as nasal congestion, nasal drainage and recurrent sinusitis as well as otologic manifestations such as otitis media or otorrhea with conductive hearing loss are also often encountered. It seems that the type of ciliary ultrastructure defects and the involved mutated genes are associated to some extent to the clinical profile. The disease, even in nowadays, is not recognized at an early age and the primary care clinician should have knowledge of its clinical spectrum in order to select appropriately the children who need further investigation for the diagnosis of this disorder.

关键词： Primary ciliary dyskinesia Kartagener’s syndrome Immotile cilia heterotaxy Respiratory tract

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Malrotation: Current strategies navigating the radiologic diagnosis of a surgical emergency

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World Journal of Radiology 2014年第9期6卷 730-736页

作者： John J Tackett Eleanor D Muise Robert A Cowles Section of Pediatric Surgery Department of SurgeryYale University School of Medicine

The most accurate and practical imaging algorithm for the diagnosis of intestinal malrotation can be a complex and sometimes controversial *** 1900,sig-nificant advances have been made in the radiographic assessment of infants and children suspected to have anomalies of intestinal *** describe the cur-rent methods of abdominal imaging of malrotation along with their pros and *** associated with volvulus,malrotation is a true surgical emergency re-quiring rapid diagnosis and *** emphasize the importance of close cooperation and communica-tion between radiology and surgery to perform an effective and efficient diagnostic evaluation allowing prompt surgical decision making.

关键词： Malrotation Midgut volvulus Treitz Ladd heterotaxy Infant

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