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https://www.readbyqxmd.com/read/29785564/helicobacter-pylori-infection-in-pediatric-patients-update-on-diagnosis-and-eradication-strategies
#1
REVIEW
Kallirroi Kotilea, Nicolas Kalach, Matjaž Homan, Patrick Bontems
Helicobacter pylori infection is acquired mainly in childhood and remains an essential cause of peptic ulcer disease and gastric cancer. This article provides commentary on the last ESPGHAN/NASPGHAN guidelines and on publications made after the consensus conference of 2015. The majority of infected children are asymptomatic and pediatric studies do not support a role for H. pylori in functional disorders such as recurrent abdominal pain. The role of H. pylori infection in failure to thrive, children's growth, type I diabetes mellitus (T1DM), and celiac disease remains controversial...
May 22, 2018: Paediatric Drugs
https://www.readbyqxmd.com/read/29780794/pediatric-scurvy-when-contemporary-eating-habits-bring-back-the-past
#2
Alice Brambilla, Cristina Pizza, Donatella Lasagni, Lucia Lachina, Massimo Resti, Sandra Trapani
Vitamin C deficiency is anecdotal in developed countries, mainly associated with underling clinical morbidities as autism or neurological impairment. Chronic insufficient dietary supply is responsible for vascular fragility and impaired bone formation, resulting in gingival bleeding, petechial lesions, articular and bone pain or limb swelling. Children may present anorexia, irritability, failure to thrive, limping or refusal to walk. Accordingly, pediatric scurvy is frequently misdiagnosed with osteomyelitis, septic arthritis, bone and soft tissue tumor, leukemia, bleeding disorders, and rheumatologic conditions...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29771772/nasogastric-tube-syndrome-a-diagnostic-dilemma
#3
Gyanaranjan Nayak, Ramandeep S Virk, Manvi Singh, Meenu Singh
BACKGROUND: Nasogastric tubes have been used in the pediatric age group to supplement nutrition in cases of malignancy and failure to thrive due to a variety of causes. Breathing difficulty may occur after the insertion of a nasogastric tube and it can have multiple causes. Here we discuss 2 patients of acute lymphoblastic leukemia (ALL) who developed a rare condition called the Sofferman syndrome (nasogastric tube syndrome). We will also briefly outline a diagnostic algorithm to facilitate its fast and correct diagnosis...
May 16, 2018: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/29757593/severe-combined-immunodeficiency-a-case-series-and-review-from-a-tertiary-pediatric-hospital
#4
Shahrzad Fallah, Mehrnaz Mesdaghi, Mahboubeh Mansouri, Delara Babaei, Abdollah Karimi, Seyed Alireza Fahimzad, Shahnaz Armin, Sedigheh Rafiei Tabatabaei, Roxana Azma, Ghamartaj Khanbabaee, Bahram Bashardoost, Mehrdad Amirmoeini, Saeed Sadr, Rozita Jalilianhasanpour, Roxana Ghanaei, Nima Rezaei, Zahra Chavoshzadeh
Severe combined immunodeficiency syndrome (SCID) is a life-threatening condition leading to early infant death as a result of severe infection, due to impaired cellular and humoral immune systems. Various forms of SCID are classified based on the presence or absence of T cells, B cells and natural killer cells. Patients usually present with recurrent infections and failure to thrive. Definitive treatment is hematopoietic stem cell transplantation. To achieve the best outcome, it should be performed prior to the development of severe infection...
April 2018: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29754879/congenital-pyloric-atresia-nine-new-cases-single-center-experience-of-the-long-term-follow-up-and-the-lessons-learnt-over-a-decade
#5
Monal Kansra, V Shankar Raman, Kamal Kishore, Sanat Khanna, Bipin Puri, Abhishek Sharma
BACKGROUND: Congenital pyloric atresia (CPA) is a rare anomaly with an incidence of 1 in 100,000 live births. Depending on the type of anomaly patients can either present in the neonatal period or later in life with subtle nonspecific signs and symptoms. We present our institute's experience in handling these cases over the last decade and highlight lessons learnt. MATERIALS AND METHODS: We retrospectively reviewed records of patients diagnosed with CPA and managed at our centre between Jan 2006 to June 2016...
April 14, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29747671/metabolic-acidosis-as-food-protein-induced-enterocolitis-syndrome-fpies-onset-in-a-newborn
#6
Antonella Peduto, Mario Rocca, Cinzia De Maio, Federica Gallarotti, Giulia Pomero, Paolo Gancia
BACKGROUND: FPIES (Food Protein Induced Eneterolitis Syndrome) is a rare non IgE- mediated food allergy, usually affecting infants and children after first months of life. Clinical presentation is heterogeneous, usually characterised by repetitive vomiting and diarrhoea, lethargy, failure to thrive until to dehydration with hypotension and shock. The diagnosis is based on clinical criteria, after excludind other hypothetical conditions. Early recognition of FPIES is essential to set a correct dietatay management that is resolving for the patient...
May 10, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29731497/lysosomal-acid-lipase-deficiency-in-japan-a-case-report-of-siblings-and-a-literature-review-of-cases-in-japan
#7
Naoyuki Ikari, Akira Shimizu, Takeshi Asano
We report on two siblings with early onset lysosomal acid lipase deficiency or Wolman disease. Their parents had a consanguineous marriage. The children showed evidence of abdominal distension and failed to thrive, despite having regular nutrition. At 3-4 months of age, their abdominal distension and jaundice progressed rapidly and they died of liver failure. Sebelipase alfa, a recombinant form of human lysosomal acid lipase has recently been used as an enzyme replacement therapy in patients with later-onset cholesteryl ester storage disease...
2018: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/29730659/myxedema-coma-due-to-hashimoto-thyroiditis-a-rare-but-real-presentation-of-failure-to-thrive-in-infancy
#8
Ryan A Heksch, Rohan K Henry
BACKGROUND: Hashimoto thyroiditis (HT) is uncommon in infancy, and myxedema coma (MC) is even less common. While prior reports have documented these entities separately, to our knowledge, MC in combination with HT has not been reported before in this age group. METHODS/RESULTS: A 10-month-old female presented with ptosis, lethargy, dysphagia, and failure to thrive (FTT). She developed hypotension, bradycardia, hypothermia, and apnea requiring intubation. Initial thyroid-stimulating hormone was 422 μIU/mL, and free thyroxine was < 0...
May 4, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29721912/a-middle-eastern-founder-mutation-expands-the-genotypic-and-phenotypic-spectrum-of-mitochondrial-micu1-deficiency-a-report-of-13-patients
#9
Sara Musa, Wafaa Eyaid, Kimberli Kamer, Rehab Ali, Mariam Al-Mureikhi, Noora Shahbeck, Fatma Al Mesaifri, Nawal Makhseed, Zakkiriah Mohamed, Wafaa Ali AlShehhi, Vamsi K Mootha, Jane Juusola, Tawfeg Ben-Omran
MICU1 encodes a Ca2+ sensing, regulatory subunit of the mitochondrial uniporter, a selective calcium channel within the organelle's inner membrane. Ca2+ entry into mitochondria helps to buffer cytosolic Ca2+ transients and also activates ATP production within the organelle. Mutations in MICU1 have previously been reported in 17 children from nine families with muscle weakness, fatigue, normal lactate, and persistently elevated creatine kinase, as well as variable features that include progressive extrapyramidal signs, learning disabilities, nystagmus, and cataracts...
May 3, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29713611/chylomicron-retention-disease-a-description-of-a-new-mutation-in-a-very-rare-disease
#10
Helena Ferreira, Raquel Nuñez Ramos, Cinthia Flores Quan, Susana Redecillas Ferreiro, Vanessa Cabello Ruiz, Javi Juampérez Goñi, Jesus Quintero Bernabeu, Oscar Segarra Cantón, Marina Álvarez Beltran
Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c...
April 2018: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29703813/a-23-month-old-girl-with-chronic-seborrhoeic-dermatitis-dehydration-and-failure-to-thrive
#11
Pierluigi Marzuillo, Anna Grandone, Stefano Guarino, Andrea Apicella, Iacopo Panarese, Ludovica Picciano, Maria Cristina Fedele, Federica Palladino, Silverio Perrotta, Emanuele Miraglia Del Giudice
No abstract text is available yet for this article.
April 27, 2018: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/29702543/a-novel-mutation-c-153-c-a-in-a-tunisian-girl-with-wolman-disease-and-unusual-presentation-hemophagocytic-lymphohistiocytosis
#12
Faten Tinsa, Manel Ben Romdhane, Hela Boudabous, Imen Bel Hadj, Ines Brini, Neji Tebib, Hela Louati, Soumeya Bekri, Khadija Boussetta
Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Genetic sequence analysis of the LIPA gene revealed homozygous mutation c.153 C>A (p.Tyr51*). The parents were heterozygous for this mutation...
April 26, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29700810/refining-the-phenotype-associated-with-biallelic-dnajc21-mutations
#13
G D'Amours, F Lopes, J Gauthier, V Saillour, C Nassif, R Wynn, N Alos, T Leblanc, Y Capri, S Nizard, E Lemyre, J L Michaud, V-A Pelletier, Y D Pastore, J-F Soucy
Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. However, the specific phenotype and natural history remain to be defined. We correlate molecular data, phenotype, and clinical history of five unreported affected children and all individuals reported in the literature...
April 26, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29695451/genomic-investigation-of-porcine-periweaning-failure-to-thrive-syndrome-pfts
#14
Francesca Bertolini, Tianfu Yang, Yanyun Huang, John C S Harding, Graham S Plastow, Max F Rothschild
Porcine periweaning failure to thrive syndrome (PFTS) can be defined by anorexia, lethargy, progressive debilitation and compulsive behaviours that occur in seemingly healthy pigs within two to threeweeks of weaning in the absence of any known infectious, nutritional, management or environmental factors. A genetic component has been hypothesised for this syndrome. In the present study, 119 commercial pigs (80 cases and 39 controls) were genotyped with the porcine 80K single nucleotide polymorphism-chip and were analysed with logistic regression and two Fixation Index-based approaches...
April 25, 2018: Veterinary Record
https://www.readbyqxmd.com/read/29692530/primary-presentation-of-jeune-s-syndrome-as-gastric-motility-disorder-in-an-infant-a-case-report
#15
Amit Katyan, Shabnam Bhandari Grover, Heena Rajani, Deepak Bagga, Neha Antil
We report a case of a 4-week-old female neonate with Jeune's asphyxiating thoracic dystrophy (JATD) and coexistent situs anomaly, primarily presenting as gastric motility disorder. The child presented with abdominal distension and nonbilious vomiting since birth with failure to thrive. However, skeletal survey revealed JATD. Upper gastrointestinal contrast study showed situs inversus with delayed gastric emptying. Pyloric biopsy and intraoperative antro-duodenal manometry confirmed association of gastric motility disorder...
January 2018: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29683957/biliary-rhabdomyosarcoma-in-an-infant-male-with-neurofibromatosis-type-1
#16
Fatema Alhashem, Ebru Yilmaz, Mehmet A Ozdemir, Kemal Deniz, Ali Yikilmaz, Turkan Patiroglu, Musa Karakukcu, Ekrem Unal
Different types of malignancies can be seen in patients with neurofibromatosis type 1 (NF-1). Herein we present a rare combination of NF-1 and biliary rhabdomyosarcoma in a male infant. An 11-month-old boy, who was recently diagnosed with NF-1, presented to the outpatient clinic with a 3-month history of prolonged jaundice, and failure to thrive. Clinical examination showed >20 café au let spots distributed mainly over the abdominal trunk. Hepatomegaly (4 cm below the costal margin) was additionally observed...
April 20, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29682387/surgical-management-of-encapsulating-peritoneal-sclerosis-a-case-report-in-kidney-transplant-patient
#17
R Shahbazov, M Talanian, J L Alejo, F Azari, A Agarwal, K L Brayman
Introduction: Encapsulating peritoneal sclerosis (EPS) is a clinical syndrome of progressive fibrotic change in response to prolonged, repetitive, and typically severe insult to the peritoneal mesothelium, often occurring in the setting of peritoneal dialysis (PD). Clear guidelines for successful management remain elusive. We describe the successful surgical management of EPS in a 28-year-old male s/p deceased donor kidney transplant for end-stage renal disease (ESRD) secondary to focal segmental glomerulosclerosis (FSGS)...
2018: Case Reports in Surgery
https://www.readbyqxmd.com/read/29681100/bohring-opitz-syndrome-caused-by-an-asxl1-mutation-inherited-from-a-germline-mosaic-mother
#18
Emma Bedoukian, Deborah Copenheaver, Sherri Bale, Matthew Deardorff
Bohring-Opitz syndrome (BOS) is characterized clinically by severe developmental delays, microcephaly, failure to thrive, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others). Most patients meeting the clinical criteria for BOS (MIM: 605039) have a de novo nonsense or frameshift variant in ASXL1. We report a case of BOS caused by a pathogenic ASXL1 variant inherited from a germline mosaic mother. The ASXL1 mutation was detected via trio exome sequencing. The sequencing data demonstrated that the variant was inherited maternally but that the maternal variant was underrepresented in comparison to the normal allele...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29681093/low-level-expression-of-epg5-leads-to-an-attenuated-vici-syndrome-phenotype
#19
Megan A Waldrop, Felecia Gumienny, Daniel Boue, Emily de Los Reyes, Richard Shell, Robert B Weiss, Kevin M Flanigan
Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly. Most individuals are severely affected and have a markedly reduced life span. Here we describe an 8-year-old boy with a history of developmental delay, agenesis of the corpus callosum, failure to thrive, myopathy, and well-controlled epilepsy. He was initially diagnosed with a mitochondrial disorder, based in part upon nonspecific muscle biopsy findings, but mitochondrial DNA mutation analysis revealed no mutations...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29675083/neuroimaging-in-menkes-disease
#20
Molla I Ahmed, Nahin Hussain
Menkes disease (MD) is a rare infantile onset neurodegenerative disorder due to mutations in the X linked ATP7A gene. These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition. A number of neuro-radiological findings have been reported in this condition. We report the spectrum of neuro-radiological findings in three affected boys being treated at our centre. We suggest that magnetic resonance imaging (MRI) and, in particular magnetic resonance angiography (MRA) when taken in the context of the clinical presentation may be helpful in making an early diagnosis of this devastating condition...
October 2017: Journal of Pediatric Neurosciences
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