Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT,encoding an EGF domain-specific O-GlcNAc transferase

Autosomal recessive Adams–Oliver syndrome was diagnosed in three remotely related Bedouin consanguineous families. Genome-wide linkage analysis ruled out association with known Adams–Oliver syndrome genes, identifying a single-homozygosity ∼1.8-Mb novel locus common to affected individuals (LOD score 3.37). Whole-exome sequencing followed by Sanger sequencing identified only a single mutation within this locus, shared by all affected individuals and found in patients from five additional apparently unrelated Bedouin families: a 1-bp deletion mutation in a predicted alternative splice variant of EOGT, leading to a putative truncated protein. RT-PCR demonstrated that the EOGT-predicted alternative splice variant is ubiquitously expressed. EOGT encodes EGF-domain-specific O-linked N-acetylglucosamine transferase, responsible for extracellular O-GlcNAcylation of epidermal growth factor-like domain-containing proteins, and is essential for epithelial cell-matrix interactions. F-actin staining in diseased fibroblasts showed apparently intact cell cytoskeleton and morphology, suggesting the EOGT mutation acts not through perturbation of cytoskeleton but through other mechanisms yet to be elucidated.     

Coronary bypass surgery in kawasaki disease in a four-year-old patient: case report

Kawasaki disease is an acute vasculitis syndrome of unknown etiology that mainly affects small and medium-sized arteries, particularly the coronary arteries. This disease is rarely seen in infants and young people in Turkey. In this short report, we present a four-year-old patient who has Kawasaki disease associated with coronary artery aneurysm and underwent coronary bypass grafting.     

Effect of the diode laser on bacteremia associated with dental ultrasonic scaling: a clinical and microbiological study

OBJECTIVE: The purpose of this study is to evaluate the potential use of diode lasers (DLs) to reduce bacteremia associated with ultrasonic scaling (US). Furthermore, the clinical efficacy of DLs as an adjunct to US in the treatment of gingivitis was investigated. BACKGROUND DATA: Recently, lasers have found new applications in dental practice. The benefits of the use of DLs as an adjunct to US have not yet been determined. METHODS: Twenty-two gingivitis patients were treated using a split-mouth study design in which each side was randomly treated by US alone or DL followed by US (DL + US). Blood samples were drawn just before and during US in each treatment step to detect induced bacteremia. Clinical parameters including plaque index, sulcus bleeding index, probing depth, and relative attachment level were recorded at baseline and 4 weeks postoperatively. RESULTS: Bacteremia was detected in 15 patients (68%) after US alone, and in 8 patients following DL + US (36%). The reduction of the incidence of odontogenic bacteremia during US after the application of DL was statistically significant (p < 0.05). Clinical signs improved eventually, with no significant differences between the two treatment regimens (p > 0.05). CONCLUSIONS: Application of DL energy can reduce bacteria in gingival crevices which may reduce bacteremia following US. The use of DL did not show additional clinical influence on gingival healing after treatment of gingivitis with US.     

Spinal hydatidosis accompanied by a secondary infection. Case report

Spinal hydatid disease is rarely encountered in nonendemic regions. It is a progressive disease that is associated with risks of serious morbidity. The authors report a case of an isolated primary hydatid cyst of the spine in a 34-year-old woman who presented with back pain, which had lasted for 3 months, as well as lower-extremity pain and fatigue, which had persisted for 2 months. A neurological examination yielded findings indicative of upper motor neuron involvement with complete sensory loss below the level of T-11. Magnetic resonance imaging of the spine showed multiple extradural cystic lesions with an abscess formation at T-11 and involvement of the paraspinal muscles. The patient underwent spinal decompression in which stabilization and total excision of the multiple epidural and psoas abscesses and paraspinal multiloculated cysts were performed. The diagnosis of hydatid disease associated with another infection was confirmed by histopathological evaluation. Albendazole was administered during the postoperative period. Previous reports of secondary infections accompanying this disease in extraspinal locations have been published. However, to the best of the authors' knowledge, there have been no publications about a secondary infection associated with hydatidosis in the spinal cord. One should bear in mind that spinal hydatidosis may be accompanied by other infections in endemic regions. Antihelminthic treatment should be administered for a long period following early decompressive surgery and adequate stabilization.     

Intragraft FOXP3 mRNA expression reflects antidonor immune reactivity in cardiac allograft patients

BACKGROUND: Regulatory FOXP3+ T cells control immune responses of effector T cells. However, whether these cells regulate antidonor responses in the graft of cardiac allograft patients is unknown. Therefore, we analyzed the gene expression profiles of regulatory and effector T-cell markers during immunological quiescence and acute rejection. METHODS: Quantitative real-time polymerase chain reaction was used to analyze mRNA expression levels in time-zero specimens (n=24) and endomyocardial biopsies (EMB; n=72) of cardiac allograft patients who remained free from rejection (nonrejectors; n=12) and patients with at least one histologically proven acute rejection episode (rejectors; International Society for Heart and Lung Transplantation [ISHLT] rejection grade>2; n=12). RESULTS: For all analyzed regulatory and effector T-cell markers, mRNA expression levels were increased in biopsies taken after heart transplantation compared with those in time-zero specimens. Posttransplantation, the FOXP3 mRNA levels were higher in EMB assigned to a higher ISHLT rejection grade than the biopsies with grade 0: the highest mRNA levels were detected in the rejection biopsies (rejection grade>2; P=0.003). In addition, the mRNA levels of CD25, glucocorticoid-induced TNF receptor family-related gene, cytotoxic T lymphocyte-associated antigen 4, interleukin-2, and granzyme B were also significantly higher in rejecting EMB than in nonrejecting EMB (rejection grade相似文献