Search results for "Normal"

Periodontal health and esthetic results in impacted teeth exposed by apically positioned flap technique.

2010

Objectives: This study evaluates the periodontal health status and the esthetic results of teeth subjected to orthodontic traction, after their exposure by an apically positioned flap. Study design: Fifteen patients were included in the study, ages between 11 and 28 years old. The fenestrated teeth and their homologous contralateral normally erupted teeth, used as control, were evaluated. Results: Statistically significant differences were found in the position of the gingival margin (p = 0.005), with an average distance between cemento-enamel junction (CEJ) and gingival margin of 2.47 mm (SD 1.19) in control teeth and of 1 mm (SD 1.31) in the operated teeth, and in the depth of palatal pro…

High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.

2007

Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Proban…

Electrophysiological and MRI findings in 2 patients with Listeria rhombencephalitis.

1997

The behaviour of OKT3-, OKT4- and OKT8-positive cells during phases of elevated spontaneous chemiluminescence activity (CL-A) in multiple sclerosis p…

1987

The chemiluminescence activity (CL-A; synonym = burst activity, BA) and the percentage of OKT3-, OKT4- and OKT8-positive peripheral blood cells were serially examined in four control persons and in eight patients with multiple sclerosis. When the OKT values obtained in phases of increased CL-A (clinical remission) were compared with those of the control group, the percentage of OKT3-positive cells was reduced (P = 0.014), and that of OKT4-positive cells increased (P = 0.014); there were no significant changes in the percentage of OKT8-positive cells (P = 0.171). After the CL-A had returned to normal values, the OKT4-positive cells remained elevated (P = 0.029), whereas the OKT3- (P = 0.342)…

Primordial Prevention of High Blood Pressure in Childhood

2020

Hypertension is a condition with increased risk for subsequent adverse events, and treatment of hypertension is prescribed for primary prevention of adverse events. Primordial prevention is a concept that precedes primary prevention and focuses on risk factor prevention. Primordial prevention of hypertension consists of strategies to maintain blood pressure in a normal range and prevent development of elevated blood pressure or hypertension. Childhood is a period in which primordial prevention could be effective and if sustained throughout childhood could contribute to a healthier young adulthood. Targets for primordial prevention in childhood include preventing and reducing childhood obesi…

Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study

2018

To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformations network (CURE-Net) database was systematically screened. In literature the EEC comprises a spectrum of anomalies, mainly occurring "isolated" without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal, and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields.Seventy-three prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analyzed. Associated anomalies were derived from patient's medical data …

Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation

2020

Abstract Background Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. Study design A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. Results Patients with…

Gastric outlet obstruction in a neonate because of Peutz-Jeghers syndrome

2012

Neonatal detection of Peutz-Jeghers syndrome is unusual with only 2 cases previously reported in the literature. We describe a neonate presenting with gastric outlet obstruction owing to 2 large Peutz-Jeghers polyps. The child's father and grandmother were known to have Peutz-Jeghers syndrome. On the ninth day of life, the infant underwent colonoscopy, abdominal exploration, and complete surgical resection of 3 polyps. The postoperative course was uneventful, and the patient was discharged home at the age of 3 weeks on full oral feeds. This is the first case report of inherited Peutz-Jeghers syndrome causing gastric outlet obstruction in a neonate.

A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer

2005

A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequen…

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psych…

2013

Abstract: Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but ha…