Kun Li, Runming Jin, Wenfu Xu, Yaqing Shen, Ke Lu, Xiaoyan Wu
Congenital macrothrombocytopenia is a diverse group of hereditary disorders caused by mutations in the MYH9 gene, which encodes the nonmuscle myosin heavy chain-A, an important motor protein in hemopoietic cells. Thus, the term MYH9-related disease has been proposed, but the clinicopathologic basis of MYH9 mutations has been poorly investigated. Here, we report a sporadic case of Epstein syndrome, an MYH9 disorder, in a 4-year-old Chinese boy who presented with macrothrombocytopenia. He had no family history of thrombocytopenia, hearing loss, or renal failure...
June 9, 2020: Journal of Pediatric Hematology/oncology
Elizabeth B Yerkes, Michelle Baum, David I Chu
PURPOSE: To emphasize the burden that chronic kidney disease (CKD) and its complications place on overall health and well-being over the lifetime in individuals with congenital and acquired urinary tract abnormalities. METHODS: Topic-based literature review was performed and professional opinion was obtained to describe the scope of medical challenges faced by both teens and adults and their health care providers in the context of congenital and acquired urinary tract abnormalities...
June 8, 2020: World Journal of Urology
Nicolás Maldonado Fernández, Cristina López Espada, Jose Patricio Linares Palomino, Pablo Pérez Vallecillos, Vicente García Róspide
BACKGROUND: Structural heart defects, secondary to congenital malformations, have been commonly repaired by open cardiac surgery. Endovascular technology enables these repairs to be performed with fewer complications and better recovery. However, endovascular therapy can be associated with major complications as device dislocation or embolization. We present the case of migration of an amplatzer occluder device into the abdominal aorta and its surgical retrieval. CLINICAL CASE: A 10-year-old child with ostium secundum-type interatrial communication underwent endovascular repair in our centre...
June 2, 2020: Annals of Vascular Surgery
Michal Stern-Zimmer, Ronit Calderon-Margalit, Karl Skorecki, Asaf Vivante
Chronic kidney disease (CKD) is a major public health challenge, affecting as much as 8 to 18% of the world population. Identifying childhood risk factors for future CKD may help clinicians make early diagnoses and initiation of preventive interventions for CKD and its attendant comorbidities as well as monitoring for complications. The purpose of this review is to describe childhood risk factors that may predict development of overt kidney disease later in life. Currently, there are multiple childhood risk factors associated with future onset and progression of CKD...
June 4, 2020: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Jian Zhang, Yan-Qin Cui, Yi Luo, Xin-Xin Chen, Jia Li
BACKGROUND: Nutrition therapies in children with congenital heart disease (CHD) after cardiopulmonary bypass (CPB) is crucial, but energy and protein requirements remain undefined. We assessed energy and protein requirements, with nitrogen kinetics and clinical outcomes, in infants with complex CHD following CPB. METHODS: Infants were randomized to control (1.3 g/kg/d), moderate protein (MP, 2.5 g/kg/d), or high protein (HP, 4 g/kg/d) groups. Resting energy expenditure (REE) was measured 6 hours post-CPB and then at 24-hour intervals, using indirect calorimetry to formulate energy intakes...
June 4, 2020: JPEN. Journal of Parenteral and Enteral Nutrition
Haiyue Deng, Yanqin Zhang, Huijie Xiao, Yong Yao, Hongwen Zhang, Xiaoyu Liu, Baige Su, Na Guan, Xuhui Zhong, Suxia Wang, Jie Ding, Fang Wang
BACKGROUND: To characterize the phenotypic spectrum and assess the antialbuminuric response to angiotensin converting enzyme (ACE) inhibitor and/or angiotensin receptor blocker (ARB) therapy in a cohort of children with Dent disease. METHODS: The patients' clinical findings, renal biopsy results, genetic and follow-up data were analyzed retrospectively. Mutations in CLCN5 or OCRL were detected by next-generation sequencing or Sanger sequencing. RESULTS: Of 31 Dent disease boys, 24 carried CLCN5 and 7 carried OCRL mutations...
June 3, 2020: Molecular Genetics & Genomic Medicine
Zhiqiang Shao, Shanfeng Tan, Xiaohong Yu, Hongjun Liu, Yongjun Jiang, Jiangping Gao
A horseshoe kidney is a congenital kidney malformation commonly associated with complications such as hydronephrosis, renal calculi, and infections of the renal pelvis. Renal cell carcinoma is extremely rare in a horseshoe kidney; once it occurs, however, it is intractable because of vascular abnormalities. This is especially true in laparoscopic nephron-sparing surgery, even for tumors of <4 cm in diameter. We herein report a case involving an asymptomatic 65-year-old man with an incidental finding of a 4-cm solid mass near the isthmus of a horseshoe kidney on B-mode ultrasonography...
June 2020: Journal of International Medical Research
Felix Kunz, Hülya Kayserili, Alina Midro, Deepthi de Silva, Sriyani Basnayake, Yeliz Güven, Jan Borys, Denny Schanze, Angelika Stellzig-Eisenhauer, Agnes Bloch-Zupan, Martin Zenker
Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates embryonic epithelial-mesenchymal interactions. Anecdotal reports have described abnormal orodental findings in FS, but no study has as yet addressed the orodental findings of FS systematically...
June 2, 2020: American Journal of Medical Genetics. Part A
M N Tamatey, M M Tettey, F Edwin, E A Aniteye, K Entsua-Mensah, B Gyan, I K Adzamli, G Offei-Larbi, L A Sereboe, K Frimpong-Boateng
BACKGROUND: Ventricular Septal Defect (VSD) is the commonest congenital heart disease. Without appropriate treatment, it is associated with significant morbidity and mortality. Surgical repair under cardiopulmonary bypass has been the standard treatment. Results of such treatment is not readily available from the West African sub region. We analysed the outcome of surgical repair of VSDs carried out in this Centre over a 20-year period. PATIENTS AND METHODS: A retrospective study was done for all patients who had surgical repair of VSD from January 1993 to December 2012...
July 2020: West African Journal of Medicine
P Hagelschuer, B Mack-Detlefsen, E Korsch, A Ekamp, T M Boemers
Aphallia is an extremely rare congenital malformation of unknown cause. The incidence is reported in the literature to be 1 in 10-30 million live births. Almost 100 cases have been described to date. Aphallia is associated with other congenital malformations (in particular urogenital and gastrointestinal anomalies) in >50% of cases. The diagnosis is made clinically and shows the complete absence of the corpora cavernosa and the corpus spongiosum with a urethral opening along the perineal midline (most frequently ventral to the anus and in the ventral rectal wall)...
May 29, 2020: Der Urologe. Ausg. A
Ferit Kulali, Sebnem Calkavur, Cemaliye Basaran, Erkin Serdaroglu, Melis Kose, Merve Saka Guvenc
Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin β2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p...
June 2020: Archivos Argentinos de Pediatría
K Thangappan, L Haney, F Zafar, M Hossain, Y Zhang, C Chin, T D Ryan, D Lehenbauer, D L Morales
PURPOSE: As the field of heart transplantation (HTx) has undergone much growth over the last several years, it is essential that healthcare systems are able to anticipate the typical hospital courses these patients will take. This study aims to investigate the length of stay (LOS) in HTx over the last 20 years. METHODS: The United Network for Organ Sharing (UNOS) database was used to identify patients ages 0-18 at time of listing for HTx between 2000-2019. This timeframe was divided into two eras: first (2000-2009) and second (2010-2019) eras...
April 2020: Journal of Heart and Lung Transplantation
E L Frandsen, S R Hingorani, N Jorgensen, E L Albers, J M Friedland-Little, M S Kemna, B J Hong, Y M Law
PURPOSE: Renal dysfunction is a common complication of heart transplantation (HTx) in children that affects overall outcome. Proteinuria reflects renal glomerular and tubular damage and is an early marker of renal dysfunction, even when excreted in small amounts, termed microalbuminuria. The prevalence of microalbuminuria in pediatric HTx has not been previously described. We report the prevalence of proteinuria as measured by microabuminuria to creatinine ratio (UACR) and its associated risk factors in pediatric HTx recipients...
April 2020: Journal of Heart and Lung Transplantation
E L Frandsen, K A Banker, R L Mazor, Y M Law, M S Kemna, E L Albers, B J Hong, J M Friedland-, Little
PURPOSE: Infants listed for heart transplant (HTx) are at high risk for waitlist (WL) mortality. While WL mortality for children has decreased overall in the current era of increased VAD use, outcomes for small infants supported by VAD remain suboptimal. We evaluated survival and morbidity in a cohort of critically ill infants listed for HTx and managed without VAD support. METHODS: Critically ill infants (defined as age <1 year and requiring mechanical ventilation and/or ≥2 inotropes) listed for HTx between 2008 and 2019 were identified in an institutional database...
April 2020: Journal of Heart and Lung Transplantation
C S Venema, M E Erasmus, M Mariani, A A Voors, K Damman
PURPOSE: Inotrope score is a method of quantifying inotropic and vasoactive support. The purpose of this study was to determine which factors are associated with inotrope score after adult heart transplantation, and whether inotrope score is associated with outcomes after heart transplantation. METHODS: We determined inotrope scores at 24 and 48 hours after heart transplantation in 74 patients, using the following formula: dopamine (dose × 1) + dobutamine (dose × 1) + amrinone (dose × 1) + milrinone (dose × 15) + epinephrine (dose × 100) + norepinephrine (dose × 100) + enoximone (dose × 1) + isoprenaline (dose × 100), with dose in µg/kg/min...
April 2020: Journal of Heart and Lung Transplantation
G Poglajen, S Frljak, G Zemljič, R Okrajšek, A Cerar, M Šebeštjen, V Andročec, B Vrtovec
PURPOSE: Data on cell therapy in heart failure patients listed for heart transplantation (HTX) are lacking. We sought to investigate the clinical effects of CD34+ cell therapy in this patient cohort. METHODS: In a single-center retrospective study we analysed data of all patients listed for heart transplantation between 2007 and 2017. Pediatric patients (<18 years), patients with congenital heart disease, mechanical circulatory support, and patients awaiting multi-organ transplantation were excluded...
April 2020: Journal of Heart and Lung Transplantation
T L Goodwin, C R Broda, A Opina, W Lam, P R Ermis
PURPOSE: Adults with congenital heart disease (ACHD) are an emerging population. Heart failure (HF) is a major cause of morbidity and mortality for ACHD. Sacubitril/valsartan has been shown to reduce the risk of hospitalizations and death from HF in acquired cardiovascular disease but there is little information available on its effect on HF in ACHD. METHODS: We retrospectively studied patients with complex congenital heart disease (CHD) who were prescribed sacubitril/valsartan to treat HF...
April 2020: Journal of Heart and Lung Transplantation
K Thangappan, N Price, F Zafar, T Alsaied, R Hirsch, M Schecter, D L Morales
PURPOSE: Patients with end-stage heart failure and one functioning (Fx) lung are often referred for combined heart-lung transplantations (HLTx). However, this strategy carries significant waitlist & post-transplant mortality. Between 1987 and 2018, only 37% of the pediatric patients listed for HLTx were actually transplanted. This study aims to evaluate if heart transplant alone (HTx) remains a viable option for this patient population. METHODS: Using both the Pediatric Health Information System (PHIS) and United Network for Organ Sharing (UNOS) databases, HTx recipients with one Fx lung and congenital heart disease between 2006 and 2015 (n=19) were identified...
April 2020: Journal of Heart and Lung Transplantation
M L Townsend, T Karamlou, G J Boyle, B Feingold, K P Daly, S Deshpande, S Auerbach, S Worley, W Liu, E Saarel, S M Amdani
PURPOSE: Patients with congenital heart disease (CHD) account for ∼40% of pediatric heart transplants (HT) performed in the United States. Our aim was to evaluate the overall trends for waitlist and post-transplant survival for children with CHD in the last three decades and identify risk factors for waitlist and post-transplant mortality in the current era. METHODS: Children (age <18, n= 5741) listed for HT in the UNOS database from 1990-2017 were included...
April 2020: Journal of Heart and Lung Transplantation
Elif Böncüoğlu, Elif Kıymet, İlknur Çağlar, Neryal Tahta, Nuri Bayram, Fahri Yüce Ayhan, Ferah Genel, Çiğdem Ömür Ecevit, Hurşit Apa, Tanju Çelik, İlker Devrim
BACKGROUND: The influenza virus is a significant cause of acute lower respiratory tract infections (LRTI) requiring hospitalization in childhood and leads to severe morbidity and mortality, especially in certain risk groups. OBJECTIVES: The study aims to evaluate acute LRTI due to influenza in a tertiary care hospital and the risk factors for hospitalization among Turkish children. STUDY DESIGN: Children between 1 month and 18 years of age who were hospitalized at Dr...
April 18, 2020: Journal of Clinical Virology
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