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Deepthi Alapati, Edward E Morrisey
While our understanding of the genetics and pathology of congenital lung diseases such as surfactant protein deficiency, cystic fibrosis and alpha 1 antitrypsin deficiency is extensive, treatment options are lacking. Since the lung is a barrier organ in direct communication with the external environment, targeted delivery of gene corrective technologies to the respiratory system via intra-tracheal or intranasal routes is an attractive option for therapy. CRISPR/Cas9 gene editing technology is a promising approach to repair or inactivate disease causing mutations...
October 25, 2016: American Journal of Respiratory Cell and Molecular Biology
Ruža Grizelj, Katarina Bojanić, Jurica Vuković, Milivoj Novak, Toby N Weingarten, Darrell R Schroeder, Juraj Sprung
Objective The objective of this study was to investigate the prognostic value of a hernia sac in isolated congenital diaphragmatic hernia (CDH) with intrathoracic liver herniation ("liver-up"). Study Design A retrospective study from the single tertiary center. Isolated "liver-up" CDH neonates referred to our institution between 2000 and 2015 were reviewed for the presence or absence of a hernia sac. Association between the presence of a hernia sac and survival was assessed. Results Over the study period, there were 29 isolated CDH patients with "liver-up" who were treated, 7 (24%) had a sac, and 22 (76%) did not...
October 25, 2016: American Journal of Perinatology
Masoumeh Ghafarzadeh, Mehrdad Namdari, Ali Eatemadi
Congenital heart disease (CHD) is the most prevalent congenital anomaly in newborn babies. Cardiac malformations have been induced in different animal model experiments, by perturbing some molecules that take part in the developmental pathways associated with myocyte differentiation, specification, or cardiac morphogenesis. The exact epigenetic, environmental, or genetic, basis for these molecules perturbations is yet to be understood. But, scientist have bridged this gap by introducing autologous stem cell into the defective hearts to treat CHD...
October 22, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Małgorzata Sadkowska-Todys, Andrzej Zieliński, Mirosław P Czarkowski
PURPOSE of the STUDY: The aim of the study is to assess epidemiological situation of infectious and parasitic diseases in Poland in 2014, and an indication of the potential health risks from communicable diseases occurring in other areas of the globe. MATERIAL AND METHODS: This paper is a summary of the analysis and evaluation of the results of epidemiological surveillance of infectious diseases in Poland in 2014, and those elements of European and global epidemiological background, which in this period had an impact on the epidemiological situation in Poland or constituted a threat...
2016: Przegla̧d Epidemiologiczny
Suzanne J O'Gara, Helen E Cullington, Mary L Grasmeder, Maria Adamou, Emily S Matthews
OBJECTIVES: To identify factors preimplantation associated with postimplantation speech perception improvement in the adult congenitally deaf population. DESIGN: Forty-four adult cochlear implant (CI) patients who had a severe to profound hearing loss from birth were identified from this centre's database. Eight preimplantation factors, speech intelligibility, preimplantation hearing levels, communication mode, preimplantation speech perception scores, progression of hearing loss, age at implantation, hearing aid use preimplantation, and gender, were recorded during the CI assessment process...
November 2016: Ear and Hearing
Marco Astengo, Caroline Berntsson, Åse A Johnsson, Peter Eriksson, Mikael Dellborg
OBJECTIVE: Coarctation of the aorta (CoA) is a common condition. Adult patients with newly diagnosed CoA and patients with recurring or residual CoA require evaluation of the severity of aortic obstruction. Cardiac catheterization is considered the gold standard for the evaluation of hemodynamically significant CoA. The European Society of Cardiology (ESC) Guidelines for the management of grown-up congenital heart disease (GUCH) include noninvasive criteria for identifying significant CoA...
October 25, 2016: Congenital Heart Disease
Chulananda Goonasekera, Kamal Ali, Ann Hickey, Lekshmi Sasidharan, Malcolm Mathew, Mark Davenport, Anne Greenough
BACKGROUND: Mortality following surgical repair of congenital diaphragmatic hernia (CDH) remains high. The volume and type of perioperative intravenous fluid administered, baro-trauma, oxygen toxicity, and the duration of anesthesia are thought to affect outcome in surgical populations. AIMS: The aim of this retrospective observational study was to determine whether the perioperative volume or type of fluids and/or the duration of anesthesia were associated with postoperative mortality and if mortality was predicted by the oxygenation index (OI) prior to or following CDH surgical repair...
October 25, 2016: Paediatric Anaesthesia
Christopher F Tirotta, Tuan Nguyen, Steven Fishberger, Evelio Velis, Melissa Olen, Lourdes Lam, Danielle R Madril, Jessica Hughes, Richard G Lagueruela
BACKGROUND: Dexmedetomidine is a selective alpha-2 adrenergic agonist with sedative, analgesic, and anxiolytic properties. Dexmedetomidine has not been approved for use in pediatrics. Dexmedetomidine has been reported to depress sinus node and atrioventricular nodal function in pediatric patients; it has been suggested that the use of dexmedetomidine may not be desirable during electrophysiological studies. AIM: We hypothesize that the use of dexmedetomidine does not inhibit the induction of supraventricular tachyarrhythmias (SVT) during electrophysiological studies and does not inhibit the ablation of such arrhythmias...
October 25, 2016: Paediatric Anaesthesia
S Salas, T Agut, C Rovira, D Canizo, C Lavarino, A Garcia-Alix
INTRODUCTION: Congenital glioblastoma multiforme represents only 3% of congenital central nervous system tumours and an infratentorial location is unusual. CASE REPORT: A newborn with congenital glioblastoma multiforme with no mutation in the TP53 gene or p53 nuclear immunoreactivity that infiltrated practically the whole brainstem and also invaded supratentorial structures. CONCLUSIONS: As far as we know, only four cases with an infratentorial location have been reported previously, three in the cerebellum and one in the brainstem...
November 1, 2016: Revista de Neurologia
Jia-Ze Tan, Yuan Man, Fei Xiao
BACKGROUND: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS). METHODS: Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined, and next-generation sequencing followed by direct sequencing was carried out...
2016: Chinese Medical Journal
Rawan Al-Yousef, Ahmad Almarzouq, Saad Aldousari
INTRODUCTION AND OBJECTIVES: Ectopic pelvic kidneys with renal stones are challenging to treat. We report our experience in managing a case of ectopic pelvic kidney with a pelvic stone by robotic pyelolithotomy after failure of flexible ure¬teroscopy. MATERIALS AND METHODS: A 46-year old male with 2 months history of vague lower abdominal pain was found to have on Computed Tomography scan a left ectopic pelvic kidney with a 12mm stone in an anomalous renal pelvis...
October 20, 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
Aikaterini Patsatsi, Miltiadis Kokolios, Olga Pikou, Vasilios Lambropoulos, Ioannis Efstratiou, Dimitrios Sotiriadis
Regression of congenital nevi is usually associated with loss of pigment or halo formation. In rare cases, regression is characterized by sclerosis and hair loss. We describe a rare case of a sclerotic hypopigmented large congenital melanocytic nevus in which a localized scleroderma-like reaction process of regression seemed to have started in utero and progressed throughout early childhood.
October 25, 2016: Pediatric Dermatology
Muriel Guarda Ferreira, Manuel Baptista Salgado
A 12-month-old girl presented with an asymptomatic, pearly nodule on the left nipple that had been present from birth and was currently 3 mm in diameter and growing. Assuming the diagnosis of congenital primary milium of the nipple, we took a "wait and see" approach. After 3 months, the pearl disappeared without any scarring.
October 25, 2016: Pediatric Dermatology
Nikolaus Rieber, Roel P Gazendam, Alexandra F Freeman, Amy P Hsu, Amanda L Collar, Janyce A Sugui, Rebecca A Drummond, Chokechai Rongkavilit, Kevin Hoffman, Carolyn Henderson, Lily Clark, Markus Mezger, Muthulekha Swamydas, Maik Engeholm, Rebecca Schüle, Bettina Neumayer, Frank Ebel, Constantinos M Mikelis, Stefania Pittaluga, Vinod K Prasad, Anurag Singh, Joshua D Milner, Kelli W Williams, Jean K Lim, Kyung J Kwon-Chung, Steven M Holland, Dominik Hartl, Taco W Kuijpers, Michail S Lionakis
Invasive pulmonary aspergillosis is a life-threatening mycosis that only affects patients with immunosuppression, chemotherapy-induced neutropenia, transplantation, or congenital immunodeficiency. We studied the clinical, genetic, histological, and immunological features of 2 unrelated patients without known immunodeficiency who developed extrapulmonary invasive aspergillosis at the ages of 8 and 18. One patient died at age 12 with progressive intra-abdominal aspergillosis. The other patient had presented with intra-abdominal candidiasis at age 9, and developed central nervous system aspergillosis at age 18 and intra-abdominal aspergillosis at age 25...
October 20, 2016: JCI Insight
Mock Ryeon Kim, Hye Won Park, Sochung Chung
In adults, hypothyroidism caused by thyroid stimulation blocking antibody (TSB Ab) is rare, and confirmed cases are even fewer, as TSB Ab levels are rarely assayed. However, this may create problems in babies, as the transplacental passage of maternal TSB Ab can cause a rare type of hypothyroidism in the infant. Prompt levothyroxine replacement for the baby starting immediately after birth is important. We describe a congenital hypothyroid baby born to a hypothyroid mother who was not aware of the cause of her hypothyroid condition, which turned out to be associated with the expression of TSB Ab...
September 2016: Annals of Pediatric Endocrinology & Metabolism
Eungu Kang, Ja Hyang Cho, Jin-Ho Choi, Han-Wook Yoo
PURPOSE: This study was performed to investigate the etiology, clinical features, and outcomes of patients with gonadotropin-independent precocious puberty (GIPP). METHODS: The study included 16 patients (14 female and 2 male patients) who manifested secondary sexual characteristics, elevated sex hormones, or adrenal androgens with prepubertal luteinizing hormone levels after gonadotropin releasing hormone stimulation diagnosed between May 1994 and December 2015...
September 2016: Annals of Pediatric Endocrinology & Metabolism
Ruqayah G Y Al-Obaidi, Bassam M S Al-Musawi, Munib Ahmed K Al-Zubaidi, Christian Oberkanins, Stefan Németh, Yusra G Y Al-Obaidi
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years...
2016: Enzyme Research
Hobia Gole, Raymond Chuk, David Coman
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thought to be a rare manifestation of Kabuki syndrome; however it may be under diagnosed. Herein we describe the case of a 5-year-old girl with Kabuki syndrome 2 in whom persistent hyperinsulinism was diagnosed at 4 years of age...
August 8, 2016: Clinics and Practice
Sam Hassan, Ghassan Nakib, Mary J Saviour
The most common causes of umbilical discharge in infancy are infection and umbilical granuloma that may be treated by antibiotics and topical application of silver nitrate subsequently. If the umbilical discharge persists or if there is any abnormal discoloration around the umbilicus, it is important to investigate for underlying congenital abnormality that may be cured by surgical intervention. Unusual presentation of omphalomesenteric duct cyst has been reported in literature. We report, for the first time as far as our search is concerned, a case of a 16-month-old infant who presented initially with persistent umbilical discharge and finally with bruising around the umbilicus in keeping with Cullen's sign...
September 19, 2016: Pediatric Reports
Rubén Kevin Arnold Tapia-Orihuela, Jorge Huaringa-Marcelo, David Loja-Oropeza
Introduction: Situs inversus totalis is an uncommon anomaly which exist a complete transposition of organs and it's occasionally associated with congenital heart diseases, such as tetralogy of fallot. Pheochromocytoma is a rare neuroendocrine tumor with an annual incidence of 2-8 cases per million people and for years has been studied its relationship with the hypoxic pathway. Case Report: A 29 year old male with a history of tetralogy of fallot corrected at 10 years and situs inversus totalis. He was admitted to hospital with a progressive story of four months of constipation, palpitations, headache, dyspnea and sweating...
2016: Journal of Cardiovascular and Thoracic Research
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