Mutations of the AMH type II receptor in two extended families with persistent Müllerian duct syndrome: lack of phenotype/genotype correlation

Our goal was to compare phenotype and genotype in two extended Middle-Eastern families affected by persistent Müllerian duct syndrome due to mutations of the type II anti-Müllerian hormone receptor (AMHR-II). The first, consanguineous, family consisted of 6 boys and 2 girls, the second consisted of 4 girls and 2 boys. In family I, 4 boys and 1 girl were homozygous for a stop mutation in the 9th exon of AMHR-II, removing part of the intracellular domain of the protein. In family II, 1 girl and 1 boy were homozygous for a transversion changing conserved histidine 254 into a glutamine. Both homozygous girls were normal. In the homozygous males, the degree of development of Müllerian derivatives was variable. The uterus was well developed in 2 boys of family I and in the patient from family II; however, in 1 subject from family I, Müllerian derivatives were undetectable. Taken together, the diversity of clinical symptoms within the same sibship and the lack of correlation between the development of the Müllerian derivatives and the severity of the molecular defects suggest highly variable penetrance of the abnormal alleles and/or the existence of other genetic or epigenetic modifiers of gene expression.     

Arthroscopic management of intra- and juxta-articular osteoid osteoma of the upper extremity: a systematic review of the literature

European Journal of Orthopaedic Surgery & Traumatology - Intra- and juxta-articular osteoid osteoma (OO) is rare and can result in irreversible joint damage. Recently, arthroscopic surgery is...     

The effects of maternal hyperoxia on fetal breathing movements in third-trimester pregnancies

Fetal breathing movements and gross fetal body movements were observed before, during, and after maternal hyperoxia induced by inhalation of 50% oxygen in 14 women with normal term pregnancies. Studies were performed with real-time B-scan linear-array ultrasound and were standardized for time of day, maternal nutritional status, postprandial interval, and length of observation. Each study included a 30-minute baseline, followed by 15 minutes of hyperoxia, and 45 minutes of continued monitoring. No significant changes occurred in the mean incidences of fetal breathing movements, gross fetal body movements, the mean breathing rate, or breath interval variability, as analyzed in 5-minute epochs. Maternal PO2, as measured by transcutaneous electrodes, increased to the maximum level after 5 minutes of hyperoxia (155% over control levels). The breathing activity of normal third-trimester fetuses appears to be stimulated maximally in the second and third postprandial hours and cannot be further increased by maternal hyperoxia. This protocol represents a possible clinical strategy for investigating fetuses at risk for intrauterine hypoxia, provided that similar experimental conditions are maintained.     

Comparison of peri‐implant clinical and radiographic status around short (6 mm in length) dental implants placed in cigarette‐smokers and never‐smokers: Six‐year follow‐up results

Background

It is hypothesized that peri‐implant clinical and radiographic inflammatory parameters (probing depth [PD], bleeding on probing [BOP] and plaque index [PI]; and radiographic (crestal bone loss [CBL]) are worse among cigarette‐smokers (CS) compared with never‐smokers (NS) with short implants.

Purpose

The present 6‐year follow‐up retrospective study compared the peri‐implant clinical and radiographic parameters in CS and NS with short dental implants (6 mm in length).

Materials and methods

Fifty‐six male individuals were included. These individuals divided into 2 groups as follows: (a) Group‐1: 29 self‐reported systemically healthy CS with 48 short‐implants; and (b) Group‐2: 27 self‐reported systemically healthy NS with 43 short implants. Peri‐implant PD, PI, BOP, and CBL were measured. Group comparisons were done using the Kruskal‐Wallis test and sample size was estimated. Level of significance was set at P values < .05.

Results

In groups 1 and 2, the follow‐up durations were 6.2 ± 0.1 years and 6.1 ± 0.3 years, respectively. A cigarette smoking history of 8.9 ± 3.6 pack years was reported by individuals in Group‐1. At follow‐up, scores of peri‐implant PD, BOP, PI, and mesial and distal CBL were comparable around short implants in both groups.

Conclusion

Under strict oral hygiene maintenance protocols, short dental implants can remain functionally stable in CS in a manner similar to NS.     

Modulation of type 1 diabetes susceptibility by tumor necrosis factor alpha -308 G/A and lymphotoxin alpha +249 A/G haplotypes and lack of linkage disequilibrium with predisposing DQB1-DRB1 haplotypes in Bahraini patients

Tumor necrosis factor alpha (TNF-α) −308 G/A and lymphotoxin alpha (LTα) +249 A/G single-nucleotide polymorphisms were investigated in 228 type 1 diabetes mellitus (T1DM) patients and 240 controls. Only LTα +249G allele and +249G/+249G genotype frequencies were higher among patients, and no linkage disequilibrium was found between TNF-α/LTα alleles and susceptible/protective DRB1-DQB1 haplotypes. TNF-α/LTα T1DM-susceptible (−308G/+249G) and protective (−308G/+249A) haplotypes were identified.     

Peri-implant soft-tissue parameters and crestal bone levels among narghile smokers and nonsmokers

This retrospective convenient sample case–control study investigated the peri-implant soft-tissue inflammatory parameters and crestal bone loss (CBL) among narghile smokers (NS) (Group I) and nonsmoking controls (Group II). Demographic data were collected using a questionnaire. Peri-implant plaque index (PI), bleeding-on-probing (BOP) and pocket-depth (PD) were assessed; and peri-implant CBL was measured on standardized digital bite-wing radiographs. Sample-size was estimated and statistical analysis were done using Mann–Whitney U-test. Level of significance was set at p?p?p?p?p?p?相似文献