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)

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.
 ...
PMID:[Non-invasive urodynamic approach to the diagnosis, treatment and follow-up of voiding disorders in pediatric patients]. 1291 38

The 49, XXXXY syndrome was first reported in 1960. It represents a rare sex chromosome aneuploidy syndrome. Some consider it as the most severe variant of Klinefelter syndrome (47, XXY). The approximate incidence is 1 in 85,000 male births. The karyotype arises from maternal non-disjunction during both meiosis I and meiosis II. The clinical presentations of 49, XXXXY syndrome include mental deficiency, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features. It might be mistaken for Down syndrome and needs chromosome analysis for confirmation. According to literature review, urinary tract anomaly in association with 49, XXXXY syndrome was extremely rare. Here we report a case of 49, XXXXY with Down syndrome-like facial dysmorphism, who was found to have patent ductus arteriosus and hypotonia. Moreover, he also got grade V vesico-ureteral reflux, R't with hydronephrosis and urinary tract infection. We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed.
 ...
PMID:49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case. 1630 76

Hereditary nephrogenic diabetes insipidus is a rare disease. We describe here three brothers with this disease from a big family consisting of 10 siblings. The case is undoubtedly X-linked because the sufferers are only boys, one of them with a different father. The illness was noticed rather late, namely, at the ages of approximately 7, 6 and 5 years. Possibly, this is a particular characteristic of this family, because the disease is usually diagnosed before the age of two years. In the oldest brother (at present 15 years old) epicystotomy was performed at the time of diagnosis because of polyuria, hydroureteronephrosis and bladder hypotonia; the intervention caused a urinary tract infection leading to chronic pyelonephritis and renal scarring. No urologic intervention was necessary in the younger brothers, because their illness was noticed and treatment started somewhat earlier. This case shows that polydipsia and polyuria should always be assessed properly to disclose their causes.
 ...
PMID:[Nephrogenic diabetes insipidus in a large family]. 1652 30

We present a child, 5 months of age, diagnosed with infantile botulism, showing the signs of neurogenic bladder dysfunction. The patient presented with progressive muscle weakness, hypotonia, suckling and swallowing problems and absent peripheral reflexes at clinical examination. Botulinum neurotoxin type A was detected in her serum, confirming the diagnosis. Starting at day 6, the girl presented with a urinary retention initially necessitating free bladder drainage and subsequently intermittent catheterisation. After 6 weeks in intensive care, the patient recovered but the bladder underactivity persisted. Four months following recovery, a urodynamic evaluation was performed, showing a near normal detrusor activity and normal bladder emptying, and the catheterisation was ceased. At 6 months, the girl was diagnosed with a urinary tract infection and bladder emptying problems, which persisted, and clean intermittent catheterisation was started. The final urodynamic evaluation, a year and a half after her initial presentation, revealed a normal detrusor activity and an adequate bladder emptying.
 ...
PMID:Persistent neurogenic bladder dysfunction due to infantile botulism. 2441 42