keyword
MENU ▼
Read by QxMD icon Read
search

Failure to thrive

keyword
https://www.readbyqxmd.com/read/28812460/myopathic-mtdna-depletion-syndrome-due-to-mutation-in-tk2-gene
#1
Elena Martín-Hernández, María Teresa García-Silva, Pilar Quijada-Fraile, María Elena Rodríguez-García, Henry Rivera, Aurelio Hernández-Laín, David Coca-Robinot, Joaquín Fernández-Toral, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín
Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M)...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28811770/clinical-and-laboratory-profile-of-children-with-cystic-fibrosis-experience-of-a-tertiary-care-center-in-pakistan
#2
Danish Abdul Aziz, Abdul Gaffar Billoo, Ahad Qureshi, Misha Khalid, Salman Kirmani
OBJECTIVE: To determine the clinical presentation, diagnostic investigations and laboratory workup done in admitted children with cystic fibrosis at Aga Khan University Hospital Karachi, Pakistan. METHODS: This is athree years retrospective study from January 2013 to December 2015 conducted at The Aga Khan University Hospital Karachi Pakistan, enrolling admitted patient from birth to 15 years of either gender, diagnosed with CF on the basis of clinical features and positive sweat chloride test...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28797308/coeliac-disease-in-infants-antibodies-to-deamidated-gliadin-peptide-come-first
#3
Michele Arigliani, Francesca Rech Morassutti, Martina Fabris, Paola Melli, Elio Tonutti, Paola Cogo
BACKGROUND: The onset of coeliac disease (CD) in the first year of life is uncommon and the diagnosis can be challenging due to the suboptimal sensitivity of tissue transglutaminase antibodies (tTG) at this age and the many other possible causes of malabsorption in infants. Antibodies to deamidated gliadin peptides (anti-DGPs), especially IgG, may appear earlier than IgA anti-tTG in very young children with CD. CASE PRESENTATION: We report here on an 8-month-old child who was evaluated for failure to thrive, constipation and developmental delay...
August 10, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28780633/lvc-timing-in-infant-pig-swallowing-and-the-effect-of-safe-swallowing
#4
Andrew Gross, Jocelyn Ohlemacher, Rebecca German, Francois Gould
Recurrent laryngeal nerve (RLN) injury in neonates, a complication of head and neck surgeries, leads to increased aspiration risk and swallowing dysfunction. The severity of resulting sequelae range from morbidity, such as aspiration pneumonia, to mortality from infection and failure to thrive. The timing of airway protective events including laryngeal vestibule closure (LVC) is implicated in aspiration. We unilaterally transected the RLN in an infant pig model to observe changes in the timing of swallowing kinematics with lesion and aspiration...
August 5, 2017: Dysphagia
https://www.readbyqxmd.com/read/28777205/rapid-accurate-identification-of-tuberculous-meningitis-among-south-african-children-using-a-novel-clinical-decision-tool
#5
Anu Goenka, Prakash M Jeena, Koleka Mlisana, Tom Solomon, Kevin Spicer, Rebecca Stephenson, Arpana Verma, Barnesh Dhada, Michael J Griffiths
INTRODUCTION: Early diagnosis of tuberculous meningitis (TBM) is crucial to achieve optimum outcomes. There is no effective rapid diagnostic test for use in children. We aimed to develop a clinical decision tool to facilitate the early diagnosis of childhood TBM. METHODS: Retrospective case control study across 7 hospitals in KwaZulu-Natal, South Africa (2010-2014). We identified the variables most predictive of microbiologically confirmed TBM in children (3 months-15 years) by univariate analysis...
August 1, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28755194/hereditary-tyrosinemia-type-1-in-turkey
#6
Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M Serif Cansever
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755066/two-sides-of-the-same-coin-pediatric-onset-and-adult-onset-common-variable-immune-deficiency
#7
Lauren A Sanchez, Solrun Melkorka Maggadottir, Matthew S Pantell, Patricia Lugar, Charlotte Cunningham Rundles, Kathleen E Sullivan
PURPOSE: Common variable immunodeficiency (CVID) is a complex, heterogeneous immunodeficiency characterized by hypogammaglobulinemia, recurrent infections, and poor antibody response to vaccination. While antibiotics and immunoglobulin prophylaxis have significantly reduced infectious complications, non-infectious complications of autoimmunity, inflammatory lung disease, enteropathy, and malignancy remain of great concern. Previous studies have suggested that CVID patients diagnosed in childhood are more severely affected by these complications than adults diagnosed later in life...
July 28, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28753778/the-fate-of-radical-cystectomy-patients-after-hospital-discharge-understanding-the-black-box-of-the-pre-readmission-interval
#8
Naveen Krishnan, Benjamin Li, Bruce L Jacobs, Sapan N Ambani, Tudor Borza, Chang He, Brent K Hollenbeck, Todd Morgan, Khaled S Hafez, Alon Z Weizer, Jeffrey S Montgomery, Cheryl T Lee, Opal Lesse, Mariel S Lavieri, Jonathan E Helm, Ted A Skolarus
BACKGROUND: Radical cystectomy has one of the highest 30-d hospital readmission rates but circumstances leading to readmission remain poorly understood. OBJECTIVE: To examine the postdischarge period and better understand hospital readmission after radical cystectomy. DESIGN, SETTING, AND PARTICIPANTS: We conducted a retrospective cohort study of patients treated with radical cystectomy for bladder cancer from 2005 to 2012 using our institutional database...
August 4, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28748650/autopsy-findings-in-epg5-related-vici-syndrome-with-antenatal-onset
#9
Renaud Touraine, Annie Laquerrière, Carmen-Adina Petcu, Florent Marguet, Susan Byrne, Rachael Mein, Shu Yau, Shehla Mohammed, Laurent Guibaud, Mathias Gautel, Heinz Jungbluth
Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with a crucial role in autophagosome-lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. Clinical course is variable but usually progressive and associated with high mortality...
July 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28748012/-association-between-williams-syndrome-and-adrenal-insufficiency
#10
Meryem Rchachi, Maazou Mahamane Larwanou, Hanan El Ouahabi, Farida Ajdi
Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an assessment of degree of failure to thrive. Its association with primary adrenal insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and molecular analysis. Its management consists of the implementation of treatment for adrenal insufficiency associated with a clinico-biological monitoring...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28747464/lethal-digenic-mutations-in-the-k-channels-kir4-1-kcnj10-and-slack-kcnt1-associated-with-severe-disabling-seizures-and-neurodevelopmental-delay
#11
Sonia Majed Hasan, Ameera Balobaid, Alessandro Grottesi, Omar Dabbagh, Marta Cenciarini, Rifaat Rawashdeh, Afaf Al-Sagheir, Cecilia Bove, Lara Macchioni, Mauro Pessia, Mohammed Al-Owain, Maria Cristina D'Adamo
A 2-year-old boy presented profound developmental delay, failure to thrive, ataxia, hypotonia and tonic-clonic seizures that caused the death of the patient. Targeted and whole-exome sequencing revealed two heterozygous missense variants: a novel mutation in KCNJ10 gene that encodes for the inwardly-rectifying K(+) channel Kir4.1 and another previously characterized mutation in KCNT1 that encodes for the Na(+)-activated K(+) channel known as Slo2.2 or SLACK. The objectives of this study were to perform the clinical and genetic characterization of the proband and his family and to examine the functional consequence of the Kir4...
July 26, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28747166/cascade-fumarate-hydratase-mutation-screening-allows-early-detection-of-kidney-tumour-a-case-report
#12
Melanie M Y Chan, Angela Barnicoat, Faiz Mumtaz, Michael Aitchison, Lucy Side, Helen Brittain, Alan W H Bates, Daniel P Gale
BACKGROUND: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC)...
July 26, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28721077/food-protein-induced-enterocolitis-syndrome-a-review-of-the-literature-with-focus-on-clinical-management
#13
REVIEW
Marine Michelet, Dominique Schluckebier, Laetitia-Marie Petit, Jean-Christoph Caubet
Food protein-induced enterocolitis syndrome (FPIES) is a potentially severe presentation of non-IgE-mediated gastrointestinal food allergy (non-IgE-GI-FA) with heterogeneous clinical manifestations. Acute FPIES is typically characterized by profuse vomiting and lethargy, occurring classically 1-4 hours after ingestion of the offending food. When continuously exposed to the incriminated food, a chronic form has been described with persistent vomiting, diarrhea, and/or failure to thrive. Although affecting mainly infants, FPIES has also been described in adults...
2017: Journal of Asthma and Allergy
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#14
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28716867/syndromic-congenital-diarrhoea-new-spint2-mutation-identified-in-the-uae
#15
Solange Bou Chaaya, Julian D Eason, Bibian N Ofoegbu
We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. The determination of the molecular basis of syndromic CSD will facilitate prenatal and postnatal diagnosis of patients and will contribute to counselling of affected families, especially in areas like the UAE where consanguineous marriages are not uncommon...
July 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28699796/utilization-and-safety-of-proton-pump-inhibitors-and-histamine-2-receptor-antagonists-in-children-and-adolescents-an-observational-cohort-study
#16
A Ruigómez, S Johansson, P Nagy, L A García Rodríguez
BACKGROUND: Little is known about the use of acid-suppressing treatments and related safety events in children. OBJECTIVE: This study compared patient characteristics and safety outcomes among children prescribed acid-suppressing drugs for the first time. METHODS: The Health Improvement Network was used to determine the characteristics of children prescribed a proton pump inhibitor (PPI; esomeprazole or another PPI) or a histamine-2 receptor antagonist (H2RA) by UK primary care physicians between October 2009 and September 2012...
July 21, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28698024/the-prevalence-and-characteristics-of-cow-s-milk-protein-allergy-in-infants-and-young-children-with-iron-deficiency-anemia
#17
Fu-Ping Lai, Yao-Jong Yang
BACKGROUND: The clinical presentation of cow's milk protein allergy (CMPA) in children varies. This retrospective study aimed to investigate the prevalence and clinical manifestations of CMPA in young children who visited for evaluation of iron deficiency anemia (IDA). METHODS: Patients aged <4 years who were diagnosed as having IDA (serum ferritin <12 ng/mL) at the National Cheng Kung University Hospital, Taiwan in the period 2005-2015 were reviewed. Their clinical presentations, laboratory data, endoscopy findings, and prognosis were analyzed...
June 30, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28687692/diencephalic-syndrome-a-rare-cause-of-failure-to-thrive
#18
Mustafa Tosur, Anca Tomsa, David L Paul
Timely diagnosis of diencephalic syndrome is not often the case for patients presenting with failure to thrive (FTT) because of its rarity and lack of specific symptoms. Herein, we report two cases of diencephalic syndrome (2-year-old girl and 10-month-old boy) presenting with severe emaciation. Both patients had histories of poor weight gain for months despite having good appetites prior to diagnosis. Initial work-up did not reveal the diagnosis. Horizontal nystagmus was noted in both patients: by a neurologist in the first patient and by a family member in the second patient...
July 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28685844/genetic-characterization-of-gsd-i-in-serbian-population-revealed-unexpectedly-high-incidence-of-gsd-ib-and-three-novel-slc37a4-variants
#19
Anita Skakic, Maja Djordjevic, Adrijan Sarajlija, Kristel Klaassen, Natasa Tosic, Bozica Kecman, Milena Ugrin, Vesna Spasovski, Sonja Pavlovic, Maja Stojiljkovic
Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and five Ia patients. In five patients, GSD III, VI, IX, cholesteryl-ester storage disease and Shwachman-Diamond syndrome diagnoses were set using NGS. Incidences for GSD Ia and GSD Ib were estimated at 1:172746 and 1:60461 live-births respectively. Two variants were identified in G6PC gene: c...
July 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28676232/mhc-class-ii-deficiency-report-of-a-novel-mutation-and-special-review
#20
REVIEW
S Farrokhi, M Shabani, Z Aryan, S Zoghi, A Krolo, K Boztug, N Rezaei
The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators of the MHC II gene and results in development of blind lymphocytes due to the lack of indicatory MHC II molecules. Despite homogeneity of clinical manifestations of patients with MHC II deficiency, the genetic defects underlying this disease are heterogeneous...
July 1, 2017: Allergologia et Immunopathologia
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"