keyword
MENU ▼
Read by QxMD icon Read
search

Failure to thrive

keyword
https://www.readbyqxmd.com/read/28411097/-acute-liver-failure-related-to-inherited-metabolic-diseases-in-young-children
#1
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology...
April 11, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28407409/clinical-and-molecular-characterization-of-a-second-family-with-the-12q14-microdeletion-syndrome-and-review-of-the-literature
#2
Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, Francesco Papadia
The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, failure to thrive, short stature, learning disabilities, and osteopoikilosis. To date, 20 cases of 12q14 deletion have been reported in the literature, displaying both phenotypic than genetic variability. We report on three familial cases, a mother and two brothers, with severe short stature. The mother and elder brother presented with osteopoikilosis while the younger brother had severe short stature and developmental delay...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28401034/targeting-wolman-disease-and-cholesteryl-ester-storage-disease-disease-pathogenesis-and-therapeutic-development
#3
REVIEW
Francis Aguisanda, Natasha Thorne, Wei Zheng
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive...
2017: Current Chemical Genomics and Translational Medicine
https://www.readbyqxmd.com/read/28397555/pyriform-aperture-stenosis-a-novel-approach-to-stenting
#4
Aaron Smith, Amanda Kull, Prasad Thottam, Anthony Sheyn
OBJECTIVES: Congenital nasal pyriform aperture stenosis (CNPAS) is one of several causes of neonatal respiratory distress. Congenital nasal pyriform aperture stenosis can be diagnosed by clinical presentation and evaluated by computed tomography for degree of stenosis. Surgical management of indicated cases involves drillout of pyriform aperture with placement of stents. The following case presents a novel approach to choice of stent in these patients. CASE PRESENTATION: We report the case of an infant diagnosed with CNPAS who underwent surgical correction at 9 days of life, with placement of mometasone fuorate stents...
April 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28390595/obstructive-sleep-apnea-in-a-5-month-old-with-tonsillar-hypertrophy-secondary-to-congenital-neutropenia-case-report-and-literature-review
#5
O G Ahmed, E M Lambert
Tonsillectomy and adenoidectomy (T&A) is the primary surgical treatment for obstructive sleep apnea (OSA) in children with tonsillar and adenoid hypertrophy (TAH). We present the case of a 5-month old male with congenital neutropenia who developed severe TAH during treatment with granulocyte colony-stimulating factor (G-CSF). He had severe OSA, decreased oral intake, and failure to thrive (FTT) which all improved after undergoing a successful intracapsular T&A. We describe a successful procedure to help alleviate symptoms of OSA and FTT in this young infant with congenital neutropenia who developed TAH during treatment with G-CSF...
May 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28390190/systemic-scedosporium-prolificans-infection-in-an-11-month-old-border-collie-with-cobalamin-deficiency-secondary-to-selective-cobalamin-malabsorption-canine-imerslund-gr%C3%A3-sbeck-syndrome
#6
K Erles, A Mugford, D Barfield, T Leeb, P H Kook
An 11-month-old Border collie presented collapsed and continued to deteriorate rapidly despite supportive treatment. The dog had a history of failure to thrive and recurring respiratory infection. Laboratory abnormalities included neutrophilic leucocytosis, Heinz body anaemia, hyperammonaemia, hyperbilirubinaemia, proteinuria and hypocobalaminaemia. Post-mortem examination revealed multi-focal necrosis within the heart, kidneys, pancreas, liver, meninges and cerebral cortex. Fungal hyphae in lesions were identified as Scedosporium prolificans following culture...
April 8, 2017: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/28389465/acquired-brucella-bacteraemia-in-a-young-infant
#7
Ambar Bhatnagar, Daisy Khera, Kuldeep Singh, Anuradha Sharma
An infant aged 6 weeks presented with failure to thrive since birth, fever and lethargy for 4 days. The child was fed on unpasteurised diluted goat's milk after birth. She was diagnosed to have brucellosis both by blood culture and serology. Her mother's Brucella serology was negative. She was successfully treated with injection amikacin and tablet rifampicin and had satisfactory weight gain thereafter. Acquired brucellosis should be considered in the differential diagnosis of failure to thrive in young infants...
April 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28386502/transumbilical-surgery-for-duodenal-stenosis-in-a-child-with-situs-inversus-the-first-report
#8
Isamu Saeki, Yu Ueno, Wataru Mukai, Reisuke Imaji, Takashi Akiyama
Background. Situs inversus is a rare congenital anomaly with a reported incidence of only 1 in 5,000 to 10,000 live births. Congenital duodenal stenosis complicated with situs inversus is an even rarer entity. Case Presentation. A 1-year-old girl with situs inversus who had undergone a hemi-Fontan procedure against a single ventricle in our hospital was referred to our department for vomiting and failure to thrive. An upper gastrointestinal contrast study and endoscopy revealed duodenal stenosis. A transumbilical radical operation as a minimally invasive surgery was successfully performed...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28385289/use-of-a-novel-docosahexaenoic-acid-formulation-vs-control-in-a-neonatal-porcine-model-of-short-bowel-syndrome-leads-to-greater-intestinal-absorption-and-higher-systemic-levels-of-dha
#9
Camilia R Martin, Barbara Stoll, Joanne Cluette-Brown, Adesola C Akinkuotu, Oluyinka O Olutoye, Kathleen M Gura, Pratibha Singh, Munir M Zaman, Michael C Perillo, Mark Puder, Steven D Freedman, Doug Burrin
Infants with short bowel syndrome (SBS) are at high risk for malabsorption, malnutrition, and failure to thrive. The objective of this study was to evaluate in a porcine model of SBS, the systemic absorption of a novel enteral Docosahexaenoic acid (DHA) formulation that forms micelles independent of bile salts (DHA-ALT®). We hypothesized that enteral delivery of DHA-ALT® would result in higher blood levels of DHA compared to a control DHA preparation due to improved intestinal absorption. SBS was induced in term piglets through a 75% mid-jejunoileal resection and the piglets randomized to either DHA-ALT® or control DHA formulation (N=5 per group) for 4 postoperative days...
March 2017: Nutrition Research
https://www.readbyqxmd.com/read/28385101/outcome-of-surgery-for-pediatric-gastroesophageal-reflux-clinical-and-endoscopic-follow-up-after-300-fundoplications-in-279-consecutive-patients
#10
A I Koivusalo, M P Pakarinen
PURPOSE: Clinical and endoscopic assessment of the outcome after fundoplication for pediatric gastroesophageal reflux. BASIC PROCEDURES: Hospital records of 279 consecutive patients who underwent fundoplication for gastroesophageal reflux from 1991 to 2014 were reviewed. Underlying disorders, clinical and endoscopic findings, imaging studies, pH monitoring, and surgical technique were assessed. Main outcome measures were patency of fundoplication, control of symptoms and esophagitis, complications, redo operations, and predictive factors of failures...
April 1, 2017: Scandinavian Journal of Surgery: SJS
https://www.readbyqxmd.com/read/28373976/treatment-and-patient-reported-outcome-in-children-with-hirschsprung-disease-and-concomitant-congenital-heart-disease
#11
Johan Hasserius, Josefine Hedbys, Christina Graneli, Kristine Hagelsteen, Pernilla Stenström
Purpose. Congenital heart disease (CHD) is reported to be associated with Hirschsprung disease (HD). The aim was to evaluate any differences between children with HD with and without CHD, respectively, with regard to patient characteristics, medical care, and patient reported bowel function. Method. This is a retrospective chart study and a cross-sectional long-term follow-up of patients older than 4 years old, including all children with HD operated on with transanal endorectal pull-through (TERPT) at a tertiary center of pediatric surgery...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28373485/identification-and-characterization-of-a-novel-dgat1-missense-mutation-associated-with-congenital-diarrhea
#12
Nina L Gluchowski, Chandramohan Chitraju, Joseph A Picoraro, Niklas Mejhert, Shirly Pinto, Winnie Xin, Daniel S Kamin, Harland S Winter, Wendy K Chung, Tobias C Walther, Robert V Farese
Acyl CoA:diacylglycerol acyltransferase-1 and -2 (DGAT1 and DGAT2) catalyze triglyceride biosynthesis in humans. Biallelic loss of function mutations in human DGAT1 result in severe congenital diarrhea and protein-losing enteropathy. Additionally, pharmacologic inhibition of DGAT1 led to dose- related diarrhea in human clinical trials. Here we identify a previously unknown DGAT1 mutation in identical twins of South Asian descent. These male patients developed watery diarrhea shortly after birth, with protein-losing enteropathy and failure to thrive...
April 3, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28370599/an-unusual-case-of-haemolytic-anaemia-and-failure-to-thrive-in-a-burmese-refugee-baby
#13
Sandra Y-C Chuang, Louise Sealy, Hiran Selvadurai, Shoma Dutt, Chee Y Ooi
No abstract text is available yet for this article.
March 31, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28364054/case-6-failure-to-thrive-with-congenital-glaucoma-in-a-2-month-old-girl
#14
Brittney Statler, David J Massop, John W Schmidt
No abstract text is available yet for this article.
April 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28353526/raised-in-darkness-a-7-month-old-with-nystagmus-from-severe-visual-deprivation
#15
Cynthia H Ho, Jasmine Zargarpour, Michèle Evans
Child neglect is the most common form of child maltreatment and accounts for 60% of all cases reported to child protective services. Whereas physical and emotional neglect account for a quarter of the reported cases of child neglect, educational neglect accounts for half of the cases. We describe a 7-month-old infant with several manifestations of physical and emotional neglect including excessive quietness, failure to thrive, global developmental delay, and a gastric lactobezoar. In addition, our patient had a fine, lateral nystagmus likely due to being kept in the dark for long periods...
April 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28352669/lymphatic-deletion-of-calcitonin-receptor-like-receptor-exacerbates-intestinal-inflammation
#16
Reema B Davis, Daniel O Kechele, Elizabeth S Blakeney, John B Pawlak, Kathleen M Caron
Lymphatics play a critical role in maintaining gastrointestinal homeostasis and in the absorption of dietary lipids, yet their roles in intestinal inflammation remain elusive. Given the increasing prevalence of inflammatory bowel disease, we investigated whether lymphatic vessels contribute to, or may be causative of, disease progression. We generated a mouse model with temporal and spatial deletion of the key lymphangiogenic receptor for the adrenomedullin peptide, calcitonin receptor-like receptor (Calcrl), and found that the loss of lymphatic Calcrl was sufficient to induce intestinal lymphangiectasia, characterized by dilated lacteals and protein-losing enteropathy...
March 23, 2017: JCI Insight
https://www.readbyqxmd.com/read/28348114/mineralocorticoid-receptor-mutations
#17
Maria-Christina Zennaro, Fabio Luiz Fernandes-Rosa
Aldosterone and the mineralocorticoid receptor (MR) are key elements for maintaining fluid and electrolyte homeostasis as well as regulation of blood pressure. Loss of function mutations of the MR are responsible for renal pseudohypoaldosteronism type 1 (PHA1), a rare disease of mineralocorticoid resistance presenting in the newborn with weight loss, failure to thrive, vomiting and dehydration, associated with hyperkalemia and metabolic acidosis, despite extremely elevated levels of plasma renin and aldosterone...
March 27, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28338577/weight-gain-after-veptr-surgery-may-be-from-nutritional-optimization-rather-than-improvement-in-pulmonary-function
#18
Ying Li, Maksim A Shlykov, Christopher B Robbins, Frances A Farley, Michelle S Caird, Michelle C Burke
STUDY DESIGN: Prospective comparative study. OBJECTIVE: To evaluate whether weight percentile (WP) increases after VEPTR insertion, and whether WP correlates with nutrition labs and pulmonary function. SUMMARY OF BACKGROUND DATA: Children with thoracic insufficiency syndrome (TIS) often have "failure to thrive" (WP ≤5). Previous authors have reported an increase in WP after VEPTR surgery. Weight gain was hypothesized to be secondary to improved pulmonary function...
March 23, 2017: Spine
https://www.readbyqxmd.com/read/28337834/retinal-dystrophy-in-two-boys-with-costello-syndrome-due-to-the-hras-p-gly13cys-mutation
#19
Mary Ella Pierpont, Mary Richards, W Keith Engel, Nancy J Mendelsohn, C Gail Summers
Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#20
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. This 3.5-year-old boy had microcephaly and failure to thrive within the first 3 months of life...
March 23, 2017: American Journal of Medical Genetics. Part A
keyword
keyword
31842
1
2
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"