ABSTRACT
Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly: Gingival fibromatosis is a rare and benign disorder. The enlarged gingivae are firm and may interfere with speech, closure of the lips, and mastication. We report a thirteen years old girl, with gingival fibromatosis referred to the periodontics clinics. Full mouth gingivectomy and gingivoplasty were performed. Medical investigation showed short stature, low-borderline IQ, facial dysmorphism, and hepatomegaly. Histological analysis revealed hyperplasia in the epithelial area and fibrotic appearance of gingival connective tissue with dense collagen fibre clusters. Pedigree analysis confirmed that mode of inheritance is autosomal recessive. According to the combination of clinical findings, this case report may represent a previously unreported syndrome.
Subject(s)
Craniofacial Abnormalities/genetics , Dwarfism/genetics , Fibromatosis, Gingival/genetics , Hepatomegaly/genetics , Intellectual Disability/genetics , Intelligence/genetics , Adolescent , Chromosome Aberrations , Collagen/metabolism , Consanguinity , Craniofacial Abnormalities/diagnosis , Dwarfism/diagnosis , Female , Fibromatosis, Gingival/diagnosis , Fibromatosis, Gingival/pathology , Fibromatosis, Gingival/surgery , Genes, Recessive/genetics , Gingiva/pathology , Gingivectomy , Hepatomegaly/diagnosis , Humans , Intellectual Disability/diagnosis , SyndromeSubject(s)
Absorptiometry, Photon , Bone Density/physiology , Rickets/diagnosis , Female , Humans , Infant , Male , Reference Values , Sensitivity and SpecificityABSTRACT
In this present study regressed retinopathy of prematurity has been investigated in children born prematurely (< 2300 g birth weight and < 34 weeks gestational age) in Sivas, Turkey during January 1989-January 1992. At the age of 5-8 years, 55 children born prematurely were examined; eye fundus information could be obtained by indirect ophthalmoscopy in all of them. The frequency of regressed retinopathy of prematurity was 35.45 percent for the whole group. Severe forms with optic atrophy, dragged optic disk, vitreoretinal scarring, retinal traction and temporal avascular retina were seen in 13.63 percent of cases. Moderate forms with pigmentary changes, vitreoretinal interphase changes and lattice degeneration were seen in 21.81 percent of cases. While the severe and moderate regressed premature retinopathy findings in premature children with gestational ages of 30-34 weeks were observed to be 12.0 and 14.0 percent, respectively, those in the 25-29 week-gestational-aged premature children were determined to be 5.0 and 28.33 percent, respectively. Although the incidence of both severe and moderate regressed premature retinopathy was higher in the 25-29 week gestational-aged group when compared to that of the 30-34-week-gestational-aged group, the difference was not found to be statistically significant (p > 0.05). In conclusion, premature retinopathy should not only be followed up in the early stage with active changes but also later in infancy and childhood because of regressed premature retinopathy findings that may require treatment.
Subject(s)
Retinopathy of Prematurity/epidemiology , Child , Child, Preschool , Female , Gestational Age , Humans , Incidence , Infant, Newborn , Infant, Premature , Male , Retinopathy of Prematurity/pathology , Retrospective Studies , Turkey/epidemiologyABSTRACT
The serum-free carnitine (SFC) levels of 91 children with heart failure (HF) and of a control group consisting of 30 healthy children were measured. Twenty-four of 91 children with HF were administered oral L-carnitine. The mean SFC level of children with HF (20.16 +/- 0.30 nmol/l) was significantly lower than that of the control group (38.98 +/- 0.79 nmol/ml) (p < 0.01). Mean SFC levels of 24 patients, after L-carnitine administration, increased significantly (p < 0.01). Patients administered L-carnitine displayed a marked difference in time taken for clinical improvement compared with those not given oral L-carnitine.
