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Sarita March, Jessica Keim-Malpass
PURPOSE: Children with hypoplastic left heart syndrome (HLHS) experience numerous vulnerabilities during transitions from hospital to home during their first year of life. This paper examines the parents' responses to the situations they experience during the initial interstage transition as described through illness blogs. DESIGN AND METHODS: A qualitative descriptive design through inductive theme development using thematic analysis was performed for this study...
August 11, 2018: Journal for Specialists in Pediatric Nursing: JSPN
Dimitrios Kloukos, Piotr Fudalej, Patrick Sequeira-Byron, Christos Katsaros
BACKGROUND: Cleft lip and palate is one of the most common birth defects and can cause difficulties with feeding, speech and hearing, as well as psychosocial problems. Treatment of orofacial clefts is prolonged; it typically commences after birth and lasts until the child reaches adulthood or even into adulthood. Residual deformities, functional disturbances, or both, are frequently seen in adults with a repaired cleft. Conventional orthognathic surgery, such as Le Fort I osteotomy, is often performed for the correction of maxillary hypoplasia...
August 10, 2018: Cochrane Database of Systematic Reviews
Tomasz Mroczek, Julita Sacharczuk, Rafał Żurek, Aleksandra Morka, Aleksandr Szypulski, Jerzy Jarosz, Maciej Śniechowski, Janusz H Skalski
BACKGROUND: The introduction of the right ventricle to pulmonary artery conduit (RVPAc) during the Norwood procedure (NP) for hypoplastic left heart syndrome (HLHS) resulted in a higher survival rate, but also in an increased number of unintended pulmonary and shunt interventions. AIM: We analyse how several modifications employed in RVPAc for NP may influence the interstage course, surgical or catheter-based unintended interventions and pulmonary arteries development in HLHS cohort of patients...
August 9, 2018: Kardiologia Polska
Ryan Adams, Sarah Herrera-Nicol, Arthur L Jenkins
Background  Advancements in radiological imaging and diagnostic criteria enable doctors to more accurately identify lumbosacral transitional vertebrae (LSTV) and their association with back and L5 distribution leg pain. It is considered the most common congenital anomaly of the lumbosacral spine with an incidence between 4 and 35%, 3 although many practitioners describe 10 to 12% overall incidence. LSTVs include sacralization of the L5 vertebral body and lumbarization of the S1 segment while demonstrating varying morphology, ranging from broadened transverse processes to complete fusion...
July 2018: Journal of Neurological Surgery Reports
Houda Nasser Al Yaqoubi, Muna Mubarak Al Badi, Farida Mohsin Ambu Saidi, Nasser Shaikhan Taaeeb Al Shafouri
Sirenomelia is a rare developmental malformation and is incompatible to life. The incidence of sirenomelia, as recorded in the literature, is estimated to be approximately between 1.5 and 4.2 per 1,00,000 births. Around 15% of sirenomelia cases are associated with twin pregnancy, most often in monozygotic cases with an incidence of 7%. In monozygotic twins, the risk of sirenomelia is nearly 100-150 times higher as compared to dizygotic twins or singleton pregnancies. Until now, only two cases of sirenomelia associated with hypoplastic left heart have been reported in the literature...
2018: Case Reports in Pediatrics
Claudiu Mărginean, Cristina Oana Mărginean, Liliana Gozar, Lorena Elena Meliţ, Horaţiu Suciu, Horea Gozar, Andrada Crişan, Manuela Cucerea
Cantrell syndrome (CS) or pentalogy of Cantrell is defined as a rare condition involving a midline anterior abdominal wall defect, a distal sternal cleft, a defect of the anterior diaphragm, and a defect of the apical pericardium with pericardio-peritoneal communication, as well as intracardiac anomalies. We report the case of a male newborn with type 2 CS diagnosed during intrauterine life based on ultrasonographic evaluation. Clinical examination at birth revealed an abdominal wall defect with extrathoracic displacement of the heart and a diastasis of the sagittal suture...
2018: Frontiers in Pediatrics
Kasper von Rosen, Gudjon Leifur Gunnarsson, Christina Gramkow, Jens Ahm Sørensen, Jørn Bo Thomsen
An increasing amount of evidence supports the benefits of fat grafting for breast augmentation, correction following breast-conserving surgery, breast reconstructions as well as correction of tuberous, hypoplastic and asymmetrical breasts. The aim of fat grafting is to create a breast with an aesthetic, natural appearance. In this review, we describe the most common indications for fat grafting of the breast and give an overview of the techniques in use as well as their associated risks and future perspectives...
July 30, 2018: Ugeskrift for Laeger
Eisuke Tomiyama, Shigeaki Nakazawa, Ryo Tanaka, Kazuaki Yamanaka, Masahiro Nakagawa, Hidefumi Kishikawa, Kenji Nishimura
A 20-year-old woman had urinary incontinence since childhood. She self-managed her symptoms by using incontinence pads and she admitted never having been to a urologist. When she consulted a urologist for cystitis, ultrasonography could not locate the presence of a right kidney. She was suspected of having a contracted kidney and was referred to our hospital for further examinations and treatment. An enhanced computed tomography scan showed a contracted right kidney, which was located on the surface of the inferior vena cava...
May 2018: Hinyokika Kiyo. Acta Urologica Japonica
Elizabeth A Newman, Dan Wu, Makoto Mark Taketo, Jiangyang Zhang, Seth Blackshaw
The hypothalamus is a small, but anatomically and functionally complex, region of the brain whose development is poorly understood. In this study, we have explored its development by studying the canonical Wnt signalling pathway, generating gain and loss of function mutations of beta-catenin (Ctnnb1) in both hypothalamic and prethalamic neuroepithelium. Deletion of Ctnnb1 resulted in an anteriorized and hypoplastic hypothalamus. Posterior structures were lost or reduced, and anterior structures were expanded...
July 28, 2018: Developmental Biology
Erica Schindewolf, Nahla Khalek, Mark P Johnson, Juliana Gebb, Beverly Coleman, Terrence Blaine Crowley, Elaine H Zackai, Donna M McDonald-McGinn, Julie S Moldenhauer
22q deletion syndrome (22q11.2DS) is most often correlated prenatally with congenital heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11.2DS is not well described. We sought to review both the fetal cardiac and extracardiac findings associated with a cohort of cases ascertained prenatally, confirmed or suspected to have 22q11.2DS, born and cared for in one center. A retrospective chart review was performed on a total of 42 cases with confirmed 22q11.2DS to obtain prenatal findings, perinatal outcomes and diagnostic confirmation...
July 28, 2018: American Journal of Medical Genetics. Part A
Kara Bellai-Dussault, Thi Tuyet Mai Nguyen, Nissan Vida Baratang, Daniel Alexander Jimenez Cruz, Philippe M Campeau
It is estimated that 0.5% of all mammalian proteins have a glycosylphosphatidylinositol (GPI)-anchor. GPI-anchored proteins play key roles, particularly in embryogenesis, neurogenesis, immune response and signal transduction. Due to their involvement in many pathways and developmental events, defects in the genes involved in their synthesis and processing can result in a variety of genetic disorders for which affected individuals display a wide spectrum of features. We compiled the clinical characteristics of 202 individuals with mutations in the GPI biosynthesis and processing pathway through a review of the literature...
July 27, 2018: Clinical Genetics
Mohamed Oulad Saiad
Purpose: Our purpose is to present the modified multilayer coverage to prevent fistula and to present also the glans dissection respecting the continuity between glans and corpus spongiosum. We think an important factor for glans vascularization that prevents glans disruption for patients with distal hypospadias and report the follow-up. Introduction: Fistula and glans disruption are still the most frequent complications of hypospadias surgery. Neourethral coverage is a mandatory step in this challenging surgery; it reduces the rate of fistula...
July 2018: Journal of Indian Association of Pediatric Surgeons
Hojun Li, Harvey F Lodish, Colin A Sieff
Diamond-Blackfan anemia (DBA) is a severe congenital hypoplastic anemia caused by mutation in a ribosomal protein gene. Major clinical issues concern the optimal management of patients resistant to steroids, the first-line therapy. Hematopoietic stem cell transplantation is indicated in young patients with an HLA-matched unaffected sibling donor, and recent results with matched unrelated donor transplants indicate that these patients also do well. When neither steroids nor a transplant is possible red cell transfusions are required, and iron loading is rapid in some DBA patients, so effective chelation is vital...
August 2018: Hematology/oncology Clinics of North America
Alexandra Traister, Rachana Patel, Anita Huang, Sarvatit Patel, Julia Plakhotnik, Jae Eun Lee, Maria Gonzalez Medina, Chris Welsh, Prutha Ruparel, Libo Zhang, Mark Friedberg, Jason Maynes, John Coles
OBJECTIVE: We sought to define the intrinsic stem cell capacity in pediatric heart lesions, and the effects of diagnosis and of age, in order to inform evidence-based use of potential autologous stem cell sources for regenerative medicine therapy. METHODS: Ventricular explants derived from patients with hypoplastic left heart syndrome (HLHS), tetralogy of Fallot (TF), dilated cardiomyopathy (DCM) and ventricular septal defect (VSD) were analyzed following standard in vitro culture conditions, which yielded cardiospheres (C-spheres), indicative of endogenous stem cell capacity...
2018: PloS One
Cristiane Felix Ximenes Pessotti, Paula Rodrigues Silva Machado Costa, Natalia de Freitas Jatene Baranauskas, Thalyta Madeira Correa, Ieda Biscegli Jatene
OBJECTIVE: To identify main complications in outpatient follow-up, as well as factors before or during operation that may interfere in patient's evolution. METHODS: Retrospective study of patients submitted to total cavopulmonary shunt with extracardiac conduit from 2000 to 2014 at the Hospital do Coração (São Paulo, Brazil) and who underwent clinical follow-up at this institution. RESULTS: One hundred and fifty surgeries were performed and 59 patients maintained outpatient follow-up...
May 2018: Brazilian Journal of Cardiovascular Surgery
V C Stark, E P Schneider, D Biermann, P A Hauck, R Kozlik-Feldmann, H Schäfer, U Gottschalk
Alveolar capillary dysplasia (ACD) is a rare neonatal lung disease characterized anatomically by a defective and hypoplastic development of pulmonary alveoli leading to persistent pulmonary hypertension (PPHN) and finally lethal respiratory failure. It is often associated with congenital left heart obstruction. Given the fatal prognosis an early diagnosis is important. However, due to the fast onset of PPHN in neonates and lack of pathognomonic signs for its cause, safe and fast detection of ACD is challenging...
July 14, 2018: Journal of Neonatal-perinatal Medicine
Mercedes Rodriguez Celin, Shahida Moosa, Virginia Fano
Osteogenesis imperfecta (OI) is the most common skeletal dysplasia, which predisposes to recurrent fractures and bone deformity and presents with wide clinical variability. More than 80% of OI cases are related to dominantly inherited mutations in COL1A1 or COL1A2. The rest of the cases, however, involve many other noncollagen genes, all of which are autosomal-recessively inherited, except for IFITM5 and WNT1, which are also associated with autosomal dominant OI. Since 2012, a single recurrent heterozygous mutation in IFITM5 (c...
July 24, 2018: Annals of Human Genetics
Aaron Eckhauser, Sara K Pasquali, Chitra Ravishankar, Linda M Lambert, Jane W Newburger, Andrew M Atz, Nancy Ghanayem, Steven M Schwartz, Chong Zhang, Jeffery P Jacobs, L LuAnn Minich
BACKGROUND: The Single Ventricle Reconstruction trial randomised neonates with hypoplastic left heart syndrome to a systemic-to-pulmonary-artery shunt strategy. Patients received care according to usual institutional practice. We analysed practice variation at the Stage II surgery to attempt to identify areas for decreased variation and process control improvement. METHODS: Prospectively collected data were available in the Single Ventricle Reconstruction public-use database...
July 24, 2018: Cardiology in the Young
Jiyun Lee, Jeongho Lee, Dong Hwan Lee
PURPOSE: Congenital hypothyroidism (CH) is the most common endocrine disorder in children. Thyroid hormone deprivation results not only in mental retardation but also growth retardation. This study investigates the final height (FH) in Korean patients with CH detected by newborn screening and examines factors that may affect the FH. METHODS: The medical records of Korean CH patients (n=45) were reviewed. The FH was examined and target height (TH) was calculated based on mid-parental height...
July 2018: Korean Journal of Pediatrics
Takeshi Konuma, Syunsuke Sakamoto, Syuhei Toba, Hideto Shimpo
No abstract text is available yet for this article.
July 19, 2018: Seminars in Thoracic and Cardiovascular Surgery
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