RESUMEN
Subtelomeric rearrangements are the major cause of idiopathic mental retardation (IMR). This study included 67 Turkish children with IMR. Subtelomere fluorescence in situ hybridization (FISH) was used to determine the subtelomeric rearrangements. Submicroscopic subtelomeric deletions were identified in 5 patients, with a detection rate of 7.4%. The deletions involved 5 different subtelomeric regions (1p, 2q, 8p, 9p and 10p). The detection of subtelomeric rearrangements is of great importance in offering genetic counseling and prenatal diagnosis.
Asunto(s)
Hibridación Fluorescente in Situ/métodos , Discapacidad Intelectual/genética , Monosomía/genética , Deleción Cromosómica , Trastornos de los Cromosomas , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 10 , Cromosomas Humanos Par 2 , Cromosomas Humanos Par 8 , Cromosomas Humanos Par 9 , Femenino , Reordenamiento Génico/genética , Humanos , Discapacidad Intelectual/sangre , Cariotipificación/métodos , Masculino , Telómero/genética , TurquíaRESUMEN
A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-Caffey and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In conclusion, this patient can have a variant of brachyolmia or Spondylo-epiphyseal dysplasia tarda. However, we cannot exclude that this constellation of clinical features may represent a new syndrome.
Asunto(s)
Colesterol/sangre , Hiperopía/diagnóstico , Mandíbula/patología , Osteocondrodisplasias/diagnóstico , Estrabismo/diagnóstico , Diente/patología , Adulto , Diagnóstico Diferencial , Humanos , Hiperopía/patología , Masculino , Osteocondrodisplasias/patología , Fenotipo , Estrabismo/patología , SíndromeRESUMEN
Clarithromycin (TE-031, A-56268) was given orally to 25 children with acute bacterial infections including 5 with bronchitis, 8 with pneumonia, 4 with Mycoplasma pneumonia, 2 with pertussis and 6 with Campylobacter enteritis. Good to excellent clinical responses were obtained in 22 patients with bacterial eradication of all 10 strains. No side effect was observed. From the above clinical results, it appears that TE-031 is a useful antibiotic for the treatment of pediatrics with various bacterial infections.
Asunto(s)
Enteritis/tratamiento farmacológico , Eritromicina/análogos & derivados , Infecciones del Sistema Respiratorio/tratamiento farmacológico , Factores de Edad , Bacterias/efectos de los fármacos , Bacterias/aislamiento & purificación , Niño , Preescolar , Claritromicina , Evaluación de Medicamentos , Farmacorresistencia Microbiana , Eritromicina/efectos adversos , Eritromicina/farmacología , Eritromicina/uso terapéutico , Femenino , Humanos , Masculino , Infecciones del Sistema Respiratorio/microbiologíaRESUMEN
Sultamicillin (SBTPC) fine granule was given orally to 15 children with acute bacterial infections including 4 with acute pharyngitis, 5 with acute tonsillitis, 2 each with acute bronchitis and urinary tract infections, and 1 each with acute pneumonia and cervical purulent lymphadenitis. Good to excellent clinical responses were obtained in all of the 15 patients and bacterial eradication of all 4 strains found in these cases. Loose stool was observed in 1 case. From the above clinical results, it appears that SBTPC is a useful antibiotics for the treatment of pediatric patients with various bacterial infections.
Asunto(s)
Ampicilina/uso terapéutico , Linfadenitis/tratamiento farmacológico , Infecciones del Sistema Respiratorio/tratamiento farmacológico , Sulbactam/uso terapéutico , Infecciones Urinarias/tratamiento farmacológico , Administración Oral , Adolescente , Factores de Edad , Ampicilina/administración & dosificación , Niño , Preescolar , Formas de Dosificación , Evaluación de Medicamentos , Quimioterapia Combinada/administración & dosificación , Quimioterapia Combinada/uso terapéutico , Femenino , Humanos , Masculino , Cuello , Sulbactam/administración & dosificaciónRESUMEN
AIM: To investigate the efficacy of antibiotic-impregnated DuraGen® in preventing infection when used for repair of dural defects. MATERIAL AND METHODS: 2 groups of 7 samples were formed. In the first group, normal DuraGen® samples without antibiotic impregnation and in the second group, DuraGen® samples with antibiotic impregnation (30 mg vancomycin) were used. Staphylococcus aureus (ATCC 25923), and Staphylococcus epidermidis (ATCC 12228) were selected for this study. Antimicrobial efficacy was evaluated by counting the number of colonies on and by measuring the diameter of the inhibition zone around the samples. RESULTS: There was no zone diameter around the normal DuraGen® for the 2 types of bacteria. There was significant bacterial growth (10 (5)) according to the colony count. For antibiotic-impregnated DuraGen®, there was a zone with a mean diameter of 32 mm in the agar with S. aureus and a zone with a mean diameter of 35 mm in the agar with S. epidermidis. Antibiotic-impregnated DuraGen® was quite effective against both microorganisms and there was no bacterial growth according to the bacterial colony count. CONCLUSIONS: In our in vitro study, antibiotic-impregnated DuraGen® material significantly inhibited microorganism growth. Our results show that antibiotic-impregnated DuraGen® has the potential to prevent infection.