Search results for "Infantil"
showing 10 items of 805 documents
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abn…
2021
Fragile X syndrome (FXS; MIM 300624) is an X-linked genetic disorder characterized by physical abnormalities associated with intellectual disability and a wide spectrum of neurological and psychiatric impairments. FXS occurs more frequently in males, 1 in 5000 males and 1 in 8000 females accounting for 1-2% of overall intellectual disability (ID). In more than 99% of patients, FXS results from expansions of a CGG triplet repeat (>200 in male) of the FMR1 gene. In the last years an increasing number, albeit still limited, of FXS subjects carrying FMR1 mutations including deletions, splicing errors, missense, and nonsense variants was reported. Nevertheless, the studies concerning the func…
Axonal pathology of the skin in infantile neuroaxonal dystrophy.
1987
Ultrastructural studies on the skin of two patients affected by infantile neuroaxonal dystrophy (INAD) were performed to evaluate its diagnostic value and to discuss the etiology of INAD. While the majority of terminal axons around intradermal glands were dystophic consisting of tubulomembranous and tubulovesicular profiles sometimes accompanied by synaptic vesicles, there were only few dystophic axons inside intradermal nerve bundles. These observations suggest that the primary lesion of INAD is located in terminal and presynaptic axons. Therefore, terminal axons have to be investigated when a diagnostic skin biopsy is performed in INAD.
Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach.
1995
Based on two unrelated index patients afflicted with INCL, fetal chorion tissues were studied from subsequent pregnancies of the two respective mothers resulting in the prenatal diagnosis of INCL in two of the three pregnancies. Documentation of INCL was based on electron microscopy and DNA studies of the biopsied chorion tissue, later confirmed in the two affected fetuses after termination of their pregnancies by demonstrating INCL-specific lipopigments in post-mortem tissues, in the liver of both aborted fetuses and, additionally, in spleen and skeletal muscle of one of the affected fetuses. The autolysis of the aborted tissues, however, precluded a systematic documentation of all affecte…
Electron microscopic observation of tonsillar tissue as a diagnostic aid in early juvenile neuronal ceroid-lipofuscinosis.
1987
An electron microscopic observation in a tonsil of a patient with early juvenile neuronal ceroid-lipofuscinosis (NCL) demonstrated characteristic lipopigments in lymphocytes, i.e., fingerprint profiles (FPP) and granular matrixes. While numerous FPP, curvilinear profiles (CLP) and granular matrixes were found in reticulo-endothelial and plasma cells, tonsillar lymphocytes contained only FPP and granular matrixes as seen in circulating lymphocytes. These findings suggest that a tonsil biopsy, an easy and simple technique, may provide more reliable information than a skin biopsy not only for the diagnosis of but also for differentiating the clinical forms of childhood NCL.
Infantile neuroaxonal dystrophy: Diagnosis by skin biopsy
1991
A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have infantile neuroaxonal dystrophy (INAD). Beyond the age of two years, the EEG also entails characteristic findings. Diagnosis may be obtained by an ultrastructural examination of biopsied skin. The respective clinical and morphological findings are recorded and illustrated from four patients in this report.
Ultrastructural studies of the retina in infantile neuronal ceroid-lipofuscinosis.
1988
A 9-year-old boy who had died of infantile neuronal ceroid-lipofuscinosis had experienced retina-derived visual failure. Ophthalmologically and morphologically, his retina was severely atrophic and scarred by a dense fibrillary gliosis while photoreceptor cells had completely disappeared, cells of the bipolar layer had decreased in number and had become atrophic beyond cytologic recognition. Retinal pigment epithelial cells had undergone either atrophy or proliferation. Disease-specific granular lipopigments had accumulated in perikarya and processes of remaining cells and were infrequently associated with melanin within huge melanolipofuscin bodies and RPE cells of sessile and migrating na…
Rufinamide in children and adults with Lennox-Gastaut syndrome: first Italian multicenter experience
2010
This is the first multicenter Italian experience with rufinamide as an adjunctive drug in children, adolescents and adults with Lennox-Gastaut syndrome. The patients were enrolled in a prospective, add-on, open-label treatment study from 11 Italian centers for children and adolescent epilepsy care. Forty-three patients (26 males, 17 females), aged between 4 and 34 years (mean 15.9 ± 7.3, median 15.0), were treated with rufinamide for a mean period of 12.3 months (range 3-21 months). Twenty patients were diagnosed as cryptogenic and 23 as symptomatic. Rufinamide was added to the baseline therapy at the starting dose of 10mg/kg body weight, evenly divided in two daily doses and then increased…
Severe infantile colic and food intolerance: A long-term prospective study
1991
To determine the relationship between infantile colic and cow's milk protein intolerance (CMPI) in formula-fed infants, 70 infants (38 male, 32 female) were selected, with mean age 30.2 +/- 21.4 days, with severe colic (duration of crying greater than 4 h per day for 5 days per week). In 50 of the infants in the study group (71.4%) there was a remission of symptoms when cow's milk protein (CMP) was eliminated from the diet. Two successive challenges caused the return of symptoms in all these 50 infants. There was a positive anamnesis for atopy in 9 of 50 of the patients with CMP-related colic and in 1 of 20 of those with non-CMP-related colic (p greater than 0.05). A follow-up period of 18 …
Teething disturbances : prevalence of objective manifestations in children under age 4 months to 36 months
2011
Objective: The aim of this study was to present data as responded by parents on teething manifestation during eruption of primary teeth and the occurrence of objective manifestations in children ages 4 months to 36 months. Settings and Design: Hospital based face-to-face questionnaire study. Study Design: One thousand and one hundred children ages four to 36 months who had at least one erupting tooth were included in the study. Parents were asked to complete a short questionnaire and children were then checked by one of the authors. Statistical analysis used: Chi-square analysis was performed to analyze information obtained. Level of significance was set at P<.05. Results: There were 660 gi…
Epidermal inclusion cyst of the penis after urethroplasty causing an urethro-cutaneous fistula: a first case report
2014
Penile epidermal cysts are uncommon. We report a pediatric case of epidermal inclusion cyst of the penis after urethroplasty, responsible of the appearance of an urethro-cutaneous fistula. In our opinion, surgical excision of epidermal inclusion cyst after urethroplasty must be performed as quickly as possible to avoid occurrence of postoperative complications.