keyword
MENU ▼
Read by QxMD icon Read
search

Failure to thrive

keyword
https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#1
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
https://www.readbyqxmd.com/read/28331568/lithophagia-as-a-clue-for-celiac-disease-a-case-report-and-literature-review
#2
Mosayeb Shahryar, Iraj Shahramian, Seyed Mohsen Dehghani, NoorMohammad Noori, Maryam Ataollahi
Lithophagia is a type of pica that might be resulted from Iron Deficiency Anemia (IDA) which is the frequent presenting signs of Celiac Disease (CD). A 5-year-old child with a two year history of the lithophagia with a, refractory IDA, abdominal distention and constipation. The child did not grow well and had failure to thrive. With suspicion to CD, TTg IgA level was measured and due to an incearse of TTg IgA level the patients were undergone esophagogastrodeudonoscpy and jejunal biopsy. The biopsy showed severe villous atrophy and an increase in limphoplasma cells...
2017: Gastroenterology and Hepatology From Bed to Bench
https://www.readbyqxmd.com/read/28328122/a-novel-patient-with-an-attenuated-costello-syndrome-phenotype-due-to-an-hras-mutation-affecting-codon-146-literature-review-and-update
#3
Annie Ting Gee Chiu, Gordon Ka-Chun Leung, Yoyo Wing-Yiu Chu, Karen W Gripp, Brian Hon-Yin Chung
De novo germline mutations in HRAS cause Costello syndrome, with >95% of the mutations causing Costello syndrome affecting amino acid position 12 (p.Gly12) or 13 (p.Gly13). We report on a patient with de novo missense mutation causing an amino acid change at codon 146 of HRAS, c.436G > C:p.Ala146Pro, who presented with subtle dysmorphic features, failure to thrive, global developmental delay, and hypertrophic obstructive cardiomyopathy. Mutations affecting codon 146 are observed in <1% of patients with Costello syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327689/unusual-case-of-failure-to-thrive-type-iii-bartter-syndrome
#4
S Agrawal, K Subedi, P Ray, A Rayamajhi
Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney. The typical clinical manifestations in childhood are failure to thrive and recurrent episodes of vomiting. Typical laboratory findings which help in the diagnosis are hypokalemic metabolic alkalosis, hypomagnesemia and hypercalciuria. We report a case of Type III Bartter syndrome not responding to repeated conventional treatment of failure to thrive...
September 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28323675/30-day-readmission-after-pancreatic-resection-a-systematic-review-of-the-literature-and-meta-analysis
#5
Alexander V Fisher, Sara Fernandes-Taylor, Stephanie A Campbell-Flohr, Sam J Clarkson, Emily R Winslow, Daniel E Abbott, Sharon M Weber
OBJECTIVE: The aim of this study was to identify and compare common reasons and risk factors for 30-day readmission after pancreatic resection. BACKGROUND: Hospital readmission after pancreatic resection is common and costly. Many studies have evaluated this problem and numerous discrepancies exist regarding the primary reasons and risk factors for readmission. METHODS: Multiple electronic databases were searched from 2002 to 2016, and 15 relevant articles identified...
March 20, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28302741/cardiac-regeneration-lessons-from-development
#6
Francisco X Galdos, Yuxuan Guo, Sharon L Paige, Nathan J VanDusen, Sean M Wu, William T Pu
Palliative surgery for congenital heart disease has allowed patients with previously lethal heart malformations to survive and, in most cases, to thrive. However, these procedures often place pressure and volume loads on the heart, and over time, these chronic loads can cause heart failure. Current therapeutic options for initial surgery and chronic heart failure that results from failed palliation are limited, in part, by the mammalian heart's low inherent capacity to form new cardiomyocytes. Surmounting the heart regeneration barrier would transform the treatment of congenital, as well as acquired, heart disease and likewise would enable development of personalized, in vitro cardiac disease models...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28301921/health-care-utilization-and-complications-of-endoscopic-esophageal-dilation-in-a-national-population
#7
Abhinav Goyal, Kshitij Chatterjee, Sujani Yadlapati, Shailender Singh
Background/Aims: Esophageal stricture is usually managed with outpatient endoscopic dilation. However, patients with food impaction or failure to thrive undergo inpatient dilation. Esophageal perforation is the most feared complication, and its risk in inpatient setting is unknown. Methods: We used National Inpatient Sample (NIS) database for 2007-2013. International Classification of Diseases, 9th revision, Clinical Modification (ICD-9-CM) codes were used to identify patients with esophageal strictures...
March 17, 2017: Clinical Endoscopy
https://www.readbyqxmd.com/read/28298846/menkes-disease-and-response-to-copper-histidine-an-indian-case-series
#8
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
BACKGROUND: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28297147/compound-heterozygosity-of-dominant-and-recessive-col7a-alleles-in-a-severely-affected-patient-with-a-family-history-of-dystrophic-epidermolysis-bullosa-clinical-findings-genetic-testing-and-treatment-implications
#9
Kendra D Watson, Jennifer J Schoch, Geoffrey J Beek, Jennifer L Hand
An 8-year-old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa (DDEB) presented with life-threatening confluent skin erosions, mitten hand deformity, and failure to thrive. Reassessment of her family history and genetic testing showed compound heterozygous COL7A mutations, one inherited from her DDEB-affected mother and one from her unaffected, healthy father. This family illustrates the risk of unexpected, severe, autosomal recessive epidermolysis bullosa (EB) in a family with milder, multigenerational autosomal dominant EB...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28288113/germline-mutations-in-abl1-cause-an-autosomal-dominant-syndrome-characterized-by-congenital-heart-defects-and-skeletal-malformations
#10
Xia Wang, Wu-Lin Charng, Chun-An Chen, Jill A Rosenfeld, Aisha Al Shamsi, Lihadh Al-Gazali, Marianne McGuire, Nicholas Ah Mew, Georgianne L Arnold, Chunjing Qu, Yan Ding, Donna M Muzny, Richard A Gibbs, Christine M Eng, Magdalena Walkiewicz, Fan Xia, Sharon E Plon, James R Lupski, Christian P Schaaf, Yaping Yang
ABL1 is a proto-oncogene well known as part of the fusion gene BCR-ABL1 in the Philadelphia chromosome of leukemia cancer cells. Inherited germline ABL1 changes have not been associated with genetic disorders. Here we report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. The variant c.734A>G (p.Tyr245Cys) was found to occur de novo or cosegregate with disease in five individuals (families 1-3)...
March 13, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28286482/restoration-of-epithelial-sodium-channel-function-by-synthetic-peptides-in-pseudohypoaldosteronism-type-1b-mutants
#11
Anita Willam, Mohammed Aufy, Susan Tzotzos, Heinrich Evanzin, Sabine Chytracek, Sabrina Geppert, Bernhard Fischer, Hendrik Fischer, Helmut Pietschmann, Istvan Czikora, Rudolf Lucas, Rosa Lemmens-Gruber, Waheed Shabbir
The synthetically produced cyclic peptides solnatide (a.k.a. TIP or AP301) and its congener AP318, whose molecular structures mimic the lectin-like domain of human tumor necrosis factor (TNF), have been shown to activate the epithelial sodium channel (ENaC) in various cell- and animal-based studies. Loss-of-ENaC-function leads to a rare, life-threatening, salt-wasting syndrome, pseudohypoaldosteronism type 1B (PHA1B), which presents with failure to thrive, dehydration, low blood pressure, anorexia and vomiting; hyperkalemia, hyponatremia and metabolic acidosis suggest hypoaldosteronism, but plasma aldosterone and renin activity are high...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28278160/hyperleptinemia-in-children-with-autosomal-recessive-spinal-muscular-atrophy-type-i-iii
#12
Heike Kölbel, Berthold P Hauffa, Stefan A Wudy, Anastasios Bouikidis, Adela Della Marina, Ulrike Schara
BACKGROUND: Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with failure to thrive or weight loss, mainly caused by chewing and swallowing difficulties. Although pancreatic involvement has been described in animal models, systematic endocrinological evaluation of the energy metabolism in humans is lacking...
2017: PloS One
https://www.readbyqxmd.com/read/28276300/value-of-renal-biopsy-in-diagnosing-infantile-nephropathic-cystinosis-associated-with-secondary-nephrogenic-diabetes-insipidus
#13
Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica
Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28272532/trna-n6-adenosine-threonylcarbamoyltransferase-defect-due-to-kae1-tcs3-osgep-mutation-manifest-by-neurodegeneration-and-renal-tubulopathy
#14
Simon Edvardson, Laurence Prunetti, Aiman Arraf, Drago Haas, Jo Marie Bacusmo, Jennifer F Hu, Asas Ta-Shma, Peter C Dedon, Valérie de Crécy-Lagard, Orly Elpeleg
Post-transcriptional tRNA modifications are numerous and require a large set of highly conserved enzymes in humans and other organisms. In yeast, the loss of many modifications is tolerated under unstressed conditions; one exception is the N(6)-threonyl-carbamoyl-adenosine (t(6)A) modification, loss of which causes a severe growth phenotype. Here we aimed at a molecular diagnosis in a brother and sister from a consanguineous family who presented with global developmental delay, failure to thrive and a renal defect manifesting in proteinuria and hypomagnesemia...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28266921/clinical-laboratory-and-molecular-findings-of-63-patients-with-severe-combined-immunodeficiency-a-decade%C3%A2-s-experience
#15
M R Fazlollahi, Z Pourpak, A A Hamidieh, M Movahedi, M Houshmand, M Badalzadeh, M Nourizadeh, M Mahloujirad, S Arshi, A M Nabavi, M Gharagozlou, A Khayatzadeh, A Dabbaghzade, L Atarod, F Zandieh, M Sadeghi Shabestary, M Mesdaghi, I Mohammadzadeh, S A Mahdaviani, M H Eslamian, F Pesaran, E Bahraminia, F Abolnezhadian, Z Arij, M Moin
BACKGROUND: Severe combined immunodeficiency (SCID) is known as a pediatric emergency disease with life threatening conditions. This is an exclusive report of clinical evaluation, immunological assessment, molecular analysis and outcomes of SCID patients in a tertiary referral center in Iran. METHODS: During January 2006 and December 2015, in a prospective cohort study, initial screening and advanced immunological tests were carried out on patients suspected of having SCID...
March 7, 2017: Journal of Investigational Allergology & Clinical Immunology
https://www.readbyqxmd.com/read/28260914/helicobacter-pylori-infection-is-not-associated-with-failure-to-thrive-a-case-control-study
#16
Nan-Chang Chiu, Chien-Yu Lin, Hsin Chi, Chun-Yan Yeung, Wei-Hsin Ting, Wai-Tao Chan, Chuen-Bin Jiang, Sung-Tse Li, Chao-Hsu Lin, Hung-Chang Lee
PURPOSE: The long-term impact of Helicobacter pylori infection is complex, and concerns about the need for eradication exist. We conducted this case control study to investigate the association between H. pylori infection and failure to thrive (FTT). PATIENTS AND METHODS: From January 2009 to December 2011, 53 children with FTT group and matched children with the same sex and age and similar socioeconomic status without FTT (control group) were enrolled. A questionnaire was administered to the parents/guardian, and a (13)C-urea breath test was performed to detect H...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28258656/a-novel-missense-mutation-q495k-of-slc26a3-gene-identified-in-a-chinese-child-with-congenital-chloride-losing-diarrhoea
#17
Hongmei Guo, Bi-Xia Zheng, Yu Jin
A partially-breastfed male baby aged 11 months and 22 days was admitted as he had been passing loose stools since birth and had experienced occasional vomiting and failure to thrive. He passed watery stools 8-10 times per day, but there was no blood or mucous. The parents were healthy and their marriage was nonconsanguineous. The antenatal and birth history included polyhydramnios and premature delivery at 35 weeks of gestation. The baby's birthweight was 2.3kg (P23). He was hospitalised several times for persistent diarrhoea before coming to our hospital, but had no episodes of intestinal pseudo-obstruction...
March 4, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28250077/case-4-failure-to-thrive-and-electrolyte-abnormalities-in-a-3-year-old-girl
#18
Danielle Brown, Lauren Hess, Geeta Singhal
No abstract text is available yet for this article.
March 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28249922/clinical-manifestation-and-molecular-analysis-of-three-korean-patients-with-the-renal-form-of-pseudohypoaldosteronism-type-1
#19
Hyo-Kyoung Nam, Myung-Hyun Nam, Hye Ryun Kim, Young-Jun Rhie, Kee Hwan Yoo, Kee-Hyoung Lee
Pseudohypoaldosteronism (PHA) type 1 is a rare, heterogeneous disease characterized by hyponatremia and hyperkalemia due to mineralocorticoid resistance. The clinical features of PHA are usually failure to thrive, vomiting, and dehydration in the neonatal period. Heterozygous mutations in the Nuclear receptor subfamily 3, group C, member 2 (NR3C2) gene result in the dominant renal form of PHA type 1. Mutations in the epithelial sodium channel gene result in the more severe, recessive, systemic form of PHA type 1...
January 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28247525/mutation-in-mitochondrial-complex-iv-subunit-cox5a-causes-pulmonary-arterial-hypertension-lactic-acidemia-and-failure-to-thrive
#20
Fabian Baertling, Fathiya Al-Murshedi, Laura Sánchez-Caballero, Khalfan Al-Senaidi, Niranjan P Joshi, Hanka Venselaar, Mariël Am van den Brand, Leo Gj Nijtmans, Richard Jt Rodenburg
COX5A is a nuclear-encoded subunit of mitochondrial respiratory chain complex IV (cytochrome c oxidase). We present patients with a homozygous pathogenic variant in the COX5A gene. Clinical details of two affected siblings suffering from early-onset pulmonary arterial hypertension, lactic acidemia, failure to thrive and isolated complex IV deficiency are presented. We show that the variant lies within the evolutionarily conserved COX5A/COX4 interface domain, suggesting that it alters the interaction between these two subunits during complex IV biogenesis...
March 1, 2017: Human Mutation
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"