Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recently a type of growth failure (Hyperphagic Short Stature) has been described, in which there is potentially reversible severe impairment of growth hormone secretion, in association with excessively high levels of psychosocial stress. This condition is a variant of the disorder formerly known as Psychosocial Dwarfism. In the present study we compared children with Hyperphagic Short Stature (N = 25, aged 9.04 years+/-3.78, 72% male) and a closely matched sample with normal height, drawn from comparably stressful family circumstances (N = 25, aged 10.61+/-3.04, 60% male). Measures of the psychosocial environment, anthropometry, and developmental history from infancy were obtained. Many symptoms thought previously to be characteristics of psychosocial dwarfism were found to be nonspecific stress responses. Hypotonia (p < .05), enuresis/encopresis (p < .01), and sleep cycle disruption (p < .05) did differentiate the groups. Growth, appetite, and sleep are all influenced by hypothalamic nuclei, suggesting hypothalamic pathology could account for most of the clinical features of Hyperphagic Short Stature.
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PMID:A case-comparison study of the characteristics of children with a short stature syndrome induced by stress (Hyperphagic Short Stature) and a consecutive series of unaffected "stressed" children. 1050 91

The authors reports their experience on 248 patients affected by minctional disorders isolated or related to UTI (upper tract infections) and VUR (vesico-ureteral reflux). All the patients were assessed throught a predominantly non invasive diagnostic approach which included: pediatric urologic examination with aimed anamnestic and clinical freaming, functional examination of the lower urinary tract using uroflowmetry + EMG of the perineal plane muscles (UR + EMG), kidney and bladder ultrasound. This methodology has permitted a widening of the indications in the study of vesical function as well as limiting the selected cases (hight UTI, uncertain diagnosis) of mini-invasive examination, such as flow pressure study, minctional cystourethrogram (MC) and or renal scintigraphy. An MNR of the lumbo-sacral medulla (cord) and a neurological and/or neurosurgery evaluation were only carried out were there was a suspected occult neurological pathology. The clinical sintomatogy was as follows: approximately 70% of the patients suffered from partial diurnal incontinence, 42% were affected by secondary nocturnal enuresis while 58.6% suffered from recurrent UTI. In those patients with UTI, 11% (16 patients, 24 ureteral units) suffered from associated VUR while 3.5% suffered from either congenital or acquired urethral stenosis. From the urodynamic examination, we determined the presence of detrusorial instability in 158 patients (64%) and lazy bladder or vescical hypotonia in 84 patients (34%). The suggested therapy foresees the use of: hospital home-based uroriabilitation (minctional biofeedback), endoscopic therapy (sub-ureteral bulking, urethral dilatation) and corrective VUR surgery (only in those cases that did not respond to medical treatment). The percentage of total recovery in patients with detrusorial instability was 80%, the minctional biofeedback both associated and unassociated with drug therapy lead to complete recovery in 66% of patients with lazy and uncordinated bladder, wile 26% showed improvement and 7 patients (8.4%) did not respond. All the patients with VUR (24 reflux units) recovered; and endoscopic therapy and or surgery (12 reflux units) was carried out in some of this patients.
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PMID:[Non-invasive urodynamic approach to the diagnosis, treatment and follow-up of voiding disorders in pediatric patients]. 1291 38

We describe five members of a consanguineous Pakistani family (Family I) plus two affected children from families of different ethnic origins presenting with neurodevelopmental disorders with overlapping features. All affected individuals from families have intellectual disability (ID), ranging from mild to profound, and reduced motor and cognitive skills plus variable features including short stature, microcephaly, developmental delay, hypotonia, dysarthria, deafness, visual problems, enuresis, encopresis, behavioural anomalies, delayed pubertal onset and facial dysmorphism. We first mapped the disease locus in the large family (Family I), and by exome sequencing identified homozygous ZNF407 c.2814_2816dup (p.Val939dup) in four affected members where DNA samples were available. By exome sequencing we detected homozygous c.2405G>T (p.Gly802Val) in the affected member of Family II and compound heterozygous variants c.2884C>G (p.Arg962Gly) and c.3642G>C (p.Lys1214Asn) in the affected member of Family III. Homozygous c.5054C>G (p.Ser1685Trp) has been reported in two brothers with an ID syndrome. Affected individuals we present did not exhibit synophrys, midface hypoplasia, kyphosis, 5th finger camptodactyly, short 4th metatarsals or limited knee mobility observed in the reported family.
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PMID:Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism. 3273 94