Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003635 (apraxia)
 2,817 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Only in some particular cases chronic cough requires special investigations. Respiratory diseases linked to environment are frequent in children. Cough is the most common symptom in child asthma and usually occurs during sleep or exercise. Environmental tobacco smoke exposure may concern up to 30% of families. Questioning should systematically check for parental smoking in children with chronic cough since avoidance is the only effective treatment. The incidence of whooping cough appears to be increasing and the diagnosis may be difficult among already immunized children in whom symptoms are often nonspecific. Nowadays Bordetella pertussis can easily be detected on nasal smears (ELISA, PCR, cultures). Swallowing dysfunction may cause productive cough in toddlers, most often related to functional dyspraxia, yet possibly due to aerodigestive tract malformation. Unrecognized bronchial foreign body is a well-known pitfall particularly between 9 and 36 months of age. Bronchiectasis and cystic fibrosis are responsible for chronic productive cough in toddlers and older children. In teenagers, psychogenic coughing is difficult to manage and usually requires psycho- and speech therapy.
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PMID:[Chronic cough in children: signs of serious disease and investigations]. 1168 88

Two critically ill girls, aged 2.3 years and 3.5 years respectively, developed delirium in the Paediatric Intensive Care Unit (PICU). The first child, admitted with meningococcal meningitis and septic shock with respiratory failure, suffered from hyperactive delirium which started 2 hours post-extubation. The second child, admitted due to an exacerbation of cystic fibrosis with the threat of respiratory failure, suffered from hypoactive delirium with regression, inconsolability, dyspraxia and dysphasia. Both patients responded well to a single intravenous dose of haloperidol. Although delirium occurs in critically ill children, it often goes unrecognized, particularly in its hypoactive form. It should nevertheless be considered as a medical emergency, particularly in a PICU setting, and should be treated accordingly. Physicians are generally reluctant to consider psychopharmacological treatment of childhood delirium. Haloperidol is considered as the drug of choice, but risperidone can also be used successfully.
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PMID:[Delirium in critically ill children in a paediatric intensive care unit]. 1705 65

Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Joubert syndrome exhibits genetic heterogeneity, with mutations identified in more than 30 genes, including INPP5E, a gene encoding inositol polyphosphate 5-phosphatase E, which is important in the development and stability of the primary cilium. Here, we report the detailed clinical phenotypes of two sisters with a novel homozygous variant in INPP5E (NM_019892.4: c.1565G>C, NP_063945.2: p.Gly552Ala), expanding the phenotype associated with Joubert syndrome type 1. Expression studies using patient-derived fibroblasts showed changes in mRNA and protein levels. Analysis of fibroblasts from patients revealed that a significant number of cells had shorter or no cilia, indicating defects in ciliogenesis, and cilia maintenance.
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PMID:Defective ciliogenesis in INPP5E-related Joubert syndrome. 2905 17