Read by QxMD icon Read

Failure to thrive

Adam H Lewis, Ankur Chugh, Sarah A Sobotka
A 7-year-old girl with 20q13.33 deletion and a history of generalized convulsive epilepsy presented to the Developmental and Behavioral Pediatrics Clinic due to concerns about her behavioral outbursts in the context of overall delayed development. Evaluation by the Developmental and Behavioral and Gastroenterology teams revealed failure to thrive (FTT) as the primary cause of the behavioral outbursts and developed a high-calorie, high-fat, high-protein nutritional counseling plan. Children who have FTT and a genetic disorder are often thought to not thrive because of their underlying genetic disorder; however, feeding skills and nutritional intake need to be thoroughly investigated before determining an etiology for FTT...
March 1, 2018: Pediatric Annals
K Wegleiter, M Waltner-Romen, R Trawoeger, U Kiechl-Kohlendorfer, E Griesmaier
Fetal angiotensin II receptor antagonist exposure is associated with major complications and even death when administered during pregnancy. Neonates frequently require intensive care treatment, and mortality is high. Despite this well-known risk potential, a considerable number of women still receive angiotensin II receptor antagonists during pregnancy to treat arterial hypertension. Although clinical symptoms in the neonatal period are well described, few reports address long-term follow-up after fetal exposure to angiotensin II receptor antagonists...
2018: Case Reports in Pediatrics
David A Geier, Janet K Kern, Lisa K Sykes, Mark R Geier
Nelson and Bauman (Pediatrics 111:674-679, 2003) previously hypothesized that pervasive developmental disorder (PDD) was not associated with mercury (Hg) exposure because the medical conditions associated with Hg exposure were not associated with PDD. A hypothesis-testing longitudinal case-control study evaluated the frequency of medically diagnosed conditions previously associated with Hg poisoning, including: epilepsy, dysarthria, failure to thrive, cerebral palsy, or contact dermatitis and other eczema among children preceding their eventual PDD diagnosis (cases) compared to controls...
March 6, 2018: Metabolic Brain Disease
Patrick M Zueger, Holly M Holmes, Gregory S Calip, Dima M Qato, A Simon Pickard, Todd A Lee
OBJECTIVES: To describe medications that older hospice beneficiaries receive through Medicare Part D and assess patterns in Part D use for individuals admitted to hospice for cancer and noncancer causes. DESIGN: Descriptive cohort analysis using the Surveillance, Epidemiology and End Results (SEER)-Medicare linked database. SETTING: U.S. hospice programs PARTICIPANTS: Part D-enrolled Medicare beneficiaries aged 66 and older who were admitted to hospice and died while under hospice care between January 1, 2008, and December 31, 2013 (N = 88,957)...
March 6, 2018: Journal of the American Geriatrics Society
Frederik Heldt, Hannah Wallaschek, Tim Ripperger, Susanne Morlot, Thomas Illig, Thomas Eggermann, Brigitte Schlegelberger, Caroline Scholz, Doris Steinemann
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis...
March 1, 2018: European Journal of Medical Genetics
Anilawan Smitthimedhin, Angela Suarez, Ryan L Webb, Hansel J Otero
Intestinal malrotation is a continuum of congenital anomalies due to lack of rotation or incomplete rotation of the fetal intestine around the superior mesenteric artery axis. The abnormal bowel fixation (by mesenteric bands) or absence of fixation of portions of the bowel increases the risk of bowel obstruction, acute or chronic volvulus, and bowel necrosis. The clinical presentation of patients with malrotation without, with intermittent, or with chronic volvulus can be problematic, with an important minority presenting late or having atypical or chronic symptoms, such as intermittent vomiting, abdominal pain, duodenal obstruction, or failure to thrive...
March 3, 2018: Abdominal Radiology
Mikhail M Kostik, Evgeny N Suspitsin, Marina N Guseva, Anastasia S Levina, Anastasia Y Kazantseva, Anna P Sokolenko, Evgeny N Imyanitov
NLRP12-related autoinflammatory disease (NLRP12-AID) is an exceptionally rare autosomal dominant disorder caused by germline mutations in NLRP12 gene. Very few patients with NLRP12-AD have been identified worldwide; therefore, there is a scarcity of data on phenotypic presentation of this syndrome. Here we provide evidence that NLRP12-AID may have clinical manifestations characteristic for primary immune deficiencies (PID). 246 children with periodic fever (PF) of unknown origin were subjects to the next generation sequencing (NGS) analysis; 213 of these patients had signs of primary immunodeficiency (PID) manifested by recurrent infections, while 33 kids had isolated PF...
March 2, 2018: Rheumatology International
Salma A Ajarmeh, Eyad M Al Tamimi
Backgorund: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155-166del) in exon 3 of the TBCE gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation. CASE PRESENTATION: We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. The patient had the characteristic features of SSS and genetic testing confirmed that he was homozygous for the TBCE mutation...
March 1, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Marta Fojanesi, Mariana Gallo, Matteo Spaziani, Federica Russo, Martina Valentini, Francesco Saverio Bersani, Massimo Biondi, Antonio Radicioni
RIASSUNTO. Introduzione. La riduzione dell'ormone della crescita (GH) in assenza di lesioni ipofisarie è una delle cause di bassa statura e della condizione clinica di deficit di crescita non organico, nota come "non-organic failure to thrive" (NOFTT). I progressi nell'ambito della psicologia dello sviluppo hanno messo in evidenza il ruolo delle emozioni e dei comportamenti del caregiver nell'organizzazione della personalità e della psicobiologia del bambino, considerando il legame di attaccamento madre-figlio come un'esperienza fondamentale nello sviluppo...
January 2018: Rivista di Psichiatria
Danish Abdul Aziz, Misha Kahlid, Fozia Memon, Kamran Sadiq
Objective: To determine clinical features and relevant laboratory investigations of patient with celiac disease (CD) and comparing classical celiac disease (CCD) with Non-diarrheal celiac disease (NDCD). Methods: This is a five years retrospective study conducted at The Aga Khan University Hospital Karachi, Pakistan from January 2010 to December 2015, enrolling children from one year to 15 years of either gender diagnosed as celiac disease in accordance with revised ESPGHAN criteria...
November 2017: Pakistan Journal of Medical Sciences Quarterly
Magda R Hamczyk, Ricardo Villa-Bellosta, Pilar Gonzalo, María J Andrés-Manzano, Paula Nogales, Jacob F Bentzon, Carlos López-Otín, Vicente Andrés
Background -Progerin, an aberrant protein that accumulates with age, causes the rare genetic disease Hutchinson-Gilford progeria syndrome (HGPS). HGPS patients with ubiquitous progerin expression exhibit accelerated aging and atherosclerosis, and die in their early teens mainly from myocardial infarction or stroke. The mechanisms underlying progerin-induced atherosclerosis remain unexplored, in part due to the lack of appropriate animal models. Methods -We generated an atherosclerosis-prone model of HGPS by crossing apolipoprotein E-deficient ( Apoe-/- ) mice with LmnaG609G/G609G mice ubiquitously expressing progerin...
February 28, 2018: Circulation
Laurel Willig, Erin Paquette, D Micah Hester, Bradley A Warady, John D Lantos
A 3-month-old boy with failure to thrive was referred to a nephrology clinic after a diagnostic workup for failure to thrive revealed a serum urea nitrogen level of 95 mg/dL and creatinine level of 3.6 mg/dL. A renal ultrasound revealed marked bilateral hydronephrosis with little remaining renal cortex in either kidney. A voiding cystourethrogram revealed evidence of posterior urethral valves. The child had no evident comorbidities. Fulguration of the valves was successfully performed but did not lead to improvement in kidney function...
February 28, 2018: Pediatrics
Line Engel Clasen, Anne Bruun Blauert, Svend Aage Madsen
Being exposed to sexual assaults has numerous psychological and social consequences, which may interfere with the adolescent's still-ongoing development. This article focuses on social consequences for adolescents exposed to sexual assault by someone from their peer group. Participants were 148 in number and 15-18 year olds (M = 16.34 years, 90.5% female) from Centre for Victims of Sexual Assault's "Youth Programme." A mixed methods design combined extensive survey data collected from the 148 adolescents and five case stories...
February 28, 2018: Journal of Child Sexual Abuse
Iddo Vardi, Ortal Barel, Michal Sperber, Michael Schvimer, Moran Nunberg, Michael Field, Jodie Ouahed, Dina Marek-Yagel, Lael Werner, Yael Haberman, Avishay Lahad, Yair Anikster, Gideon Rechavi, Iris Barshack, Joshua J McElwee, Joseph Maranville, Raz Somech, Scott B Snapper, Batia Weiss, Dror S Shouval
BACKGROUND: Advances in genomics have facilitated the discovery of monogenic disorders in patients with unique gastro-intestinal phenotypes. Syndromic diarrhea, also called tricho-hepato-enteric (THE) syndrome, results from deleterious mutations in SKIV2L or TTC37 genes. The main features of this disorder are intractable diarrhea, abnormal hair, facial dysmorphism, immunodeficiency and liver disease. AIM: To report on a patient with THE syndrome and present the genetic analysis that facilitated diagnosis...
February 26, 2018: Digestive Diseases and Sciences
Sandra Pereira, Mariana Adrião, Mafalda Sampaio, Margarida Ayres Basto, Esmeralda Rodrigues, Laura Vilarinho, Elisa Leão Teles, Isabel Alonso, Miguel Leão
INTRODUCTION: Combined oxidative phosphorylation deficiency 20 (COXPD20) is a mitochondrial respiratory chain complex (RC) disorder, caused by disease-causing variants in the VARS2 gene, which encodes a mitochondrial aminoacyl-tRNA synthetase. Here we describe a patient with fatal mitochondrial encephalopathy caused by a homozygous VARS2 gene missense variant. CASE REPORT: We report the case of a girl, the first child of non-consanguineous and healthy parents, born from an uneventful term pregnancy, who presented, in the neonatal period, major hypotonia and microcephaly...
February 25, 2018: JIMD Reports
Sofía Catena, Mariana Aracena, Óscar Pizarro, Karena Espinoza, Guillermo Lay-Son
Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios. At birth, facial dysmorphism, retro/micrognathia, a short and wide neck as well as cardiovascular and renal anomalies were noted...
December 2017: Molecular Syndromology
Hideyuki Takeuchi, Derek Wong, Michael Schneider, Hudson H Freeze, Megumi Takeuchi, Steven J Berardinelli, Atsuko Ito, Hane Lee, Stanley F Nelson, Robert S Haltiwanger
Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation defects. Homozygous deletion of mouse Pofut1 results in embryonic lethality with severe Notch-like phenotypes including defects in somitogenesis, cardiogenesis, vasculogenesis, and neurogenesis, but the extent to which POFUT1 is required for normal human development is not yet understood...
February 14, 2018: Glycobiology
Chung-Ting Hsu, Chao-Huei Chen, Ming-Chih Lin, Teh-Ming Wang, Ya-Chi Hsu
BACKGROUND: Premature infants are at high risk for developmental delay and cognitive dysfunction. Besides medical conditions, growth restriction is regarded as an important risk factor for cognitive and neurodevelopmental dysfunction throughout childhood and adolescence and even into adulthood. In this study, we analyzed the relationship between post-discharge body weight and psychomotor development using a nationwide dataset. MATERIALS AND METHODS: This was a nationwide cohort study conducted in Taiwan...
2018: PloS One
Vandana L Madhavan, Marjorie A Curran, Kristen Lindgren
No abstract text is available yet for this article.
February 15, 2018: New England Journal of Medicine
Andreia Ribeiro, Diana Moreira, Cristina Costa, Isabel Pinto Pais
Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated gastrointestinal food hypersensitivity triggered by food proteins. It may present acutely, with repetitive vomiting, diarrhoea and lethargy leading to dehydration and eventually shock or insidiously with intermittent emesis, chronic diarrhoea or failure to thrive. We describe a paediatric male patient with recurrent sepsis-like episodes of fever, lethargy, ashen-grey skin colouration and vomiting followed by diarrhoea. These episodes were triggered by cow's milk formula and grains...
February 8, 2018: BMJ Case Reports
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"