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Infantile anaemia

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https://www.readbyqxmd.com/read/27370603/trnt1-deficiency-clinical-biochemical-and-molecular-genetic-features
#1
Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A Powell, Sarah Pearce, Vincent Plagnol, José W Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B Mills, Jan-Willem Taanman, Michal Minczuk, Peter T Clayton, Shamima Rahman
BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). RESULTS: We investigated four patients from two families with infantile-onset cyclical, aseptic febrile episodes with vomiting and diarrhoea, global electrolyte imbalance during these episodes, sideroblastic anaemia, B lymphocyte immunodeficiency, retinitis pigmentosa, hepatosplenomegaly, exocrine pancreatic insufficiency and renal tubulopathy...
July 2, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27317759/multifocal-infantile-haemangioma-a-diagnostic-challenge
#2
Erica Torres, João Rosa, Christine Leaute-Labreze, Luis Soares-de-Almeida
We describe a case of a newborn who presented with multiple dark red macules that developed into red-to-purple papules associated with thrombocytopaenia. Abdominal ultrasound showed multiple hyperechoic papules and nodules. Endothelial cells from a skin biopsy stained positively for endothelial cell glucose transporter 1, which was consistent with a diagnosis of multifocal infantile haemangioma. At the age of 2 months, the child developed intestinal bleeding and anaemia. Upper and lower endoscopies showed no intestinal haemangiomas...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/26678841/neuroregression-as-an-initial-manifestation-in-a-toddler-with-acquired-pernicious-anaemia
#3
Sangeetha Yoganathan, Maya Mary Thomas, Sarah Mathai, Urmi Ghosh
The aetiology spectrum for neuroregression in infants and toddlers is diverse. Vitamin B12 deficiency-mediated neuroregression is less commonly considered as a differential. Prevalence of pernicious anaemia in the general population is 0.1% and is extremely rare in children. We describe a 35-month-old toddler with neuroregression, seizures, coarse tremors, bleating cry and neuropathy. His clinical symptomatology mimicked grey matter degenerative illness and infantile tremor syndrome, a nutritional deficiency-mediated movement disorder...
2015: BMJ Case Reports
https://www.readbyqxmd.com/read/25599621/podocyte-dysfunction-in-atypical-haemolytic-uraemic-syndrome
#4
REVIEW
Marina Noris, Caterina Mele, Giuseppe Remuzzi
Genetic or autoimmune defects that lead to dysregulation of the alternative pathway of complement have been associated with the development of atypical haemolytic uraemic syndrome (aHUS), which is characterized by thrombocytopenia, haemolytic anaemia and acute kidney injury. The relationship between aHUS, podocyte dysfunction and the resultant proteinuria has not been adequately investigated. However, the report of mutations in diacylglycerol kinase ε (DGKE) as a cause of recessive infantile aHUS characterized by proteinuria, highlighted podocyte dysfunction as a potential complication of aHUS...
April 2015: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/23602230/effect-of-provision-of-daily-zinc-and-iron-with-several-micronutrients-on-growth-and-morbidity-among-young-children-in-pakistan-a-cluster-randomised-trial
#5
RANDOMIZED CONTROLLED TRIAL
Sajid Soofi, Simon Cousens, Saleem P Iqbal, Tauseef Akhund, Javed Khan, Imran Ahmed, Anita K M Zaidi, Zulfiqar A Bhutta
BACKGROUND: Powders containing iron and other micronutrients are recommended as a strategy to prevent nutritional anaemia and other micronutrient deficiencies in children. We assessed the effects of provision of two micronutrient powder formulations, with or without zinc, to children in Pakistan. METHODS: We did a cluster randomised trial in urban and rural sites in Sindh, Pakistan. A baseline survey identified 256 clusters, which were randomly assigned (within urban and rural strata, by computer-generated random numbers) to one of three groups: non-supplemented control (group A), micronutrient powder without zinc (group B), or micronutrient powder with 10 mg zinc (group C)...
July 6, 2013: Lancet
https://www.readbyqxmd.com/read/23123320/homozygous-stop-mutation-in-the-snx10-gene-in-a-consanguineous-iraqi-boy-with-osteopetrosis-and-corpus-callosum-hypoplasia
#6
André Mégarbané, Alessandra Pangrazio, Anna Villa, Eliane Chouery, Joseph Maarawi, Sandra Sabbagh, Gérard Lefranc, Cristina Sobacchi
Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X) in SNX10, in an Iraqi boy from a consanguineous family with a history of infantile osteopetrosis. The proband exhibited macrocephaly, prominent forehead, proptosis of the eyes, strabismus, splenomegaly and joint hyperlaxity. Bone X-rays showed increased bone density, metaphyseal under-modelling, transverse alternating bands of greater and lesser density in tubular bones, anteriorly notched vertebral bodies and bone-in-bone appearance...
January 2013: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/22701005/a-good-growth-in-a-child-with-scurvy
#7
Diletta Valentini, Domenico Barbuti, Annalisa Grandin, Laura Tanturri De Horatio, Alberto Villani
We report on a 13-month-old boy who experienced pain while mobilising, and had bruising and swelling of the lower limbs. Laboratory examinations revealed anaemia and skeletal x-rays showed irregularity and thickening of the provisional zones of calcification of lower and upper limbs. The boy had been fed with only goat milk, homogenised meat, fruits and vegetables, all of which had been boiled together. Forty-eight hours after starting oral vitamin C supplementation, the patient showed dramatic clinical improvement...
2011: BMJ Case Reports
https://www.readbyqxmd.com/read/22674951/congenital-infantile-myofibroma-causing-intrauterine-death-in-a-twin
#8
Christina Yi Ling Aye, Steve Gould, S Adeyemi Akinsola
While infantile myofibromatosis is the most common mesenchymal tumour of infancy, only around 300 cases have been reported. The authors report a 33-year-old para 1 with an uncomplicated, dichorionic diamniotic twin pregnancy who was diagnosed with an intrauterine death of one twin at 36+5 weeks gestation. At caesarean section, a macerated male stillborn weighing 2.72 kg was delivered. Postmortem examination revealed a pedunculated lesion attached to the left shoulder and underlying muscle consistent with a congenital myofibroma...
2011: BMJ Case Reports
https://www.readbyqxmd.com/read/22607940/identification-of-a-mutation-in-lars-as-a-novel-cause-of-infantile-hepatopathy
#9
Jillian P Casey, Paul McGettigan, Niamh Lynam-Lennon, Michael McDermott, Regina Regan, Judith Conroy, Billy Bourke, Jacintha O'Sullivan, Ellen Crushell, SallyAnn Lynch, Sean Ennis
Infantile hepatopathies are life-threatening liver disorders that manifest in the first few months of life. We report on a consanguineous Irish Traveller family that includes six individuals presenting with acute liver failure in the first few months of life. Additional symptoms include anaemia, renal tubulopathy, developmental delay, seizures, failure to thrive and deterioration of liver function with minor illness. The multisystem manifestations suggested a possible mitochondrial basis to the disorder. However, known causes of childhood liver failure and mitochondrial disease were excluded in this family by biochemical, metabolic and genetic analyses...
July 2012: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/22184523/osteopetrosis-a-rare-cause-of-anemia
#10
Sreekala Sreehari, Divya Rani Naik, Malini Eapen
Normocytic anaemia is caused either by hypoproliferation of haemopoietic tissue or increased destruction of red cells. Osteopetrosis is a rare cause of anaemia. Infantile osteopetrosis (also called malignant osteopetrosis) is diagnosed early in life. But it is the adult osteopetrosis (also called benign osteopetrosis) which is diagnosed in late adolescence or adulthood that present as anaemia which is difficult to diagnose and treat. Approximately one half of patients are asymptomatic, and the diagnosis is made incidentally, often in late adolescence because radiologic abnormalities start appearing only in childhood...
January 13, 2011: Hematology Reports
https://www.readbyqxmd.com/read/21810307/treatment-with-anthelminthics-during-pregnancy-what-gains-and-what-risks-for-the-mother-and-child
#11
RANDOMIZED CONTROLLED TRIAL
Alison M Elliott, Juliet Ndibazza, Harriet Mpairwe, Lawrence Muhangi, Emily L Webb, Dennison Kizito, Patrice Mawa, Robert Tweyongyere, Moses Muwanga
In 1994 and 2002, respectively, the World Health Organisation proposed that treatment for hookworm and schistosomiasis could be provided during pregnancy. It was hoped that this might have benefits for maternal anaemia, fetal growth and perinatal mortality; a beneficial effect on the infant response to immunisation was also hypothesised. Three trials have now been conducted. Two have examined the effects of benzimidazoles; one (the Entebbe Mother and Baby Study) the effects of albendazole and praziquantel. All three were conducted in settings of high prevalence but low intensity helminth infection...
October 2011: Parasitology
https://www.readbyqxmd.com/read/21118620/the-impact-of-maternal-malaria-on-newborns
#12
REVIEW
T K Hartman, S J Rogerson, P R Fischer
BACKGROUND: Each year, malaria threatens 125 million pregnancies, and gestational malaria is responsible for up to 200,000 infant deaths in sub-Saharan Africa. With advancing knowledge of malaria in pregnancy and its impact on newborns, improved preventive and therapeutic interventions are possible. METHODS: We reviewed and, by consensus, evaluated published literature relevant to malaria and newborns. Important findings are summarised. RESULTS: Pregnant women are more likely than others to be inoculated with and infected by malaria parasites...
2010: Annals of Tropical Paediatrics
https://www.readbyqxmd.com/read/21032006/studies-in-the-anaemia-of-infancy-and-early-childhood-part-x-the-anaemia-of-infantile-scurvy
#13
L G Parsons, W C Smallwood
No abstract text is available yet for this article.
August 1935: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/20424301/novel-mutations-in-indian-patients-with-autosomal-recessive-infantile-malignant-osteopetrosis
#14
Shubha R Phadke, Bjoern Fischer, Neerja Gupta, Prajnya Ranganath, Madhulika Kabra, Uwe Kornak
BACKGROUND & OBJECTIVES: Although clinical reports have described infantile malignant autosomal recessive osteopetrosis (ARO) in Indian patients, no published data are available about the genetic causes of ARO in this population. We investigated the main genetic causes of ARO in eight Indian patients with early postnatal onset and the typical severe clinical course including visual impairment and anaemia. METHODS: Mutation screening in the genes CLCN7 and TCIRG1 was done on genomic DNA from 8 affected individuals (diagnosed on the basis of clinical and haematological parameters and characteristic radiological changes of increased bone density) and their parents...
April 2010: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/19978297/a-familial-case-of-splenomegalic-anaemia-with-infantilism
#15
F P Weber
No abstract text is available yet for this article.
1914: Proceedings of the Royal Society of Medicine
https://www.readbyqxmd.com/read/19801183/-infantile-visceral-leishmaniasis-epidemiological-clinical-and-biological-characteristics-about-93-case-reports-in-the-children-hospital-of-rabat
#16
L Zougaghi, R Moutaj, L Chabaa, A Agoumi
INTRODUCTION: Infantile visceral leishmaniasis (LVI) is a problem of public health in Morocco. This parasitosis rages to the state of endemic and touches the infants. OBJECTIVES: The goal of this survey is to draw up epidemiological, clinical and biologic profile of LVI in children hospitalized in the Children's Hospital of Rabat, and to prove the contribution of serology in diagnosis of this illness. MATERIAL AND METHODS: This retrospective study concerned all LVI cases gathered in the HER during 5 years (from 1997 to 2001)...
November 2009: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/18894504/the-anaemia-of-malignant-malnutrition-infantile-pellagra-kwashiorkor-protein-deficiency-as-a-possible-aetiological-factor
#17
A ALTMANN, J F MURRAY
No abstract text is available yet for this article.
June 1948: South African Journal of Medical Sciences
https://www.readbyqxmd.com/read/17880648/west-syndrome-in-an-infant-with-vitamin-b12-deficiency-in-the-absence-of-macrocytic-anaemia
#18
Ilknur Erol, Füsun Alehan, Ayten Gümüs
Vitamin B(12) deficiency in infants often produces haematological and neurological deficits, including macrocytic anaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor, and seizures. The diagnosis of vitamin B(12) deficiency can be difficult when the typical macrocytic anaemia is absent. We report the case of a 10-month-old female diagnosed with West syndrome associated with vitamin B(12) deficiency but without macrocytic anaemia caused by nutritional inadequacy in the mother...
October 2007: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/17066209/effects-of-nutrients-in-food-on-the-structure-and-function-of-the-nervous-system-update-on-dietary-requirements-for-brain-part-1-micronutrients
#19
REVIEW
J M Bourre
The objective of this update is to give an overview of the effects of dietary nutrients on the structure and certain functions of the brain. As any other organ, the brain is elaborated from substances present in the diet (sometimes exclusively, for vitamins, minerals, essential amino-acids and essential fatty acids, including omega- 3 polyunsaturated fatty acids). However, for long it was not fully accepted that food can have an influence on brain structure, and thus on its function, including cognitive and intellectuals...
September 2006: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/16900309/tufting-enteropathy-and-skeletal-dysplasia-is-there-a-link
#20
Wael El-Matary, A Mark Dalzell, George Kokai, Joyce E Davidson
INTRODUCTION: Tufting enteropathy (intestinal epithelial dysplasia), a rare congenital enteropathy, presents in the first few months of life with chronic watery diarrhoea and impaired growth. The molecular basis for this condition is not known. We report our experience with a case of tufting enteropathy that developed an unusual skeletal dysplasia with an abnormal blood picture. After extensive investigations including repeated gastrointestinal endoscopies and biopsies, the diagnosis of tufting enteropathy was made...
March 2007: European Journal of Pediatrics
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