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1.
Ann Genet ; 39(4): 197-200, 1996.
Article in English | MEDLINE | ID: mdl-9037346

ABSTRACT

We report another case of a de novo interstitial del (14) (q11.2q13). The patient's karyotype was 46,XY,del(14) (q11.2q13) [62]/46,XY [1]. In situ hybridization excluded any additional abnormalities such as a translocation or insertion. The phenotype of our patient is compared with those previously published. Comparison of the chromosome 14 short arm polymorphisms of the patient and his parents indicated that the paternal chromosome 14 was deleted.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 14 , Mosaicism , Humans , In Situ Hybridization , Infant, Newborn , Karyotyping , Male , Phenotype , Polymorphism, Genetic
2.
Mycoses ; 32(6): 312-5, 1989 Jun.
Article in English | MEDLINE | ID: mdl-2779612

ABSTRACT

Ketoconazole suspension (20 mg per ml) was compared with nystatin (100,000 units per ml) in the treatment of oral candidosis in newborns and infants. In all patients Candida infection was proven by culture. Twenty patients were treated with ketoconazole and 15 patients with nystatin. Treatment was discontinued 2 days after clinical cure, or after 3 weeks. The investigator assessed the severity of the thrush and accompanying symptoms at the start of the study and at weekly controls. After one week all 20 patients on ketoconazole (100%) and 8 (53%) patients on nystatin were cured clinically. At the end of the treatment 12 patients on nystatin (80%) were cured. Clinical cure was confirmed by negative culture in 94% of the patients on ketoconazole and in 73% of the patients on nystatin. No side-effects were observed in the patients on ketoconazole. Only in the case of one patient on nystatin, was vomiting observed. This study shows that ketoconazole cures thrush faster and more effectively than nystatin.


Subject(s)
Candidiasis, Oral/drug therapy , Ketoconazole/therapeutic use , Nystatin/therapeutic use , Child, Preschool , Humans , Infant , Infant, Newborn , Suspensions
3.
Virchows Arch A Pathol Anat Histol ; 376(2): 159-64, 1977 Nov 17.
Article in English | MEDLINE | ID: mdl-145713

ABSTRACT

The results are presented of a clinical-enzyme histochemical evaluation of the activity of acetylcholinesterase in the rectal mucosa of 46 children with obstipation. In four cases abundant and coarse acetylcholinesterase positive nerve fibres were present in the lamina propria of the mucosa. Only in these 4 cases was the diagnosis of Hirschsprung's disease supported by the clinical course. Local accumulations of fine acetylcholinesterase positive nerve fibres or accumulations of acetylcholinesterase positive foamy or structureless material were not correlated with Hirschsprung's disease.


Subject(s)
Acetylcholinesterase/metabolism , Constipation/diagnosis , Intestinal Mucosa/enzymology , Megacolon/diagnosis , Rectum/enzymology , Child , Child, Preschool , Clinical Enzyme Tests , Diagnosis, Differential , Humans , Infant
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