The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years.

Hereditary gingival fibromatosis (HGF) is characterized by the slowly progressive fibrous enlargement of gingival tissue. It usually develops as an isolated disorder but can also be one feature of various syndromes. The currently preferred terminology of these syndromes mainly describes the clinical features of the disorder without identifying the cause. In this report, we present the 5-year follow up of a family with HGF and features of 3 previously described syndromes: Jones syndrome, Zimmerman-Laband syndrome, and HGF-hypertrichosis syndrome. The 45-year-old father had HGF, hypertrichosis, hearing loss, and short stubby fingers and toes with hypoplasia of the terminal phalanges and hypoplasia of the nails on the thumbs. The features of 13-year-old son were almost identical to those of his father except for hypertrichosis, but in addition he was mentally retarded. Although the 10-day-old son had HGF and defective fingers, the mother and 7-year-old daughter were unaffected. Owing to the overlap of these syndromes, we argue that the identification of the genetic pathways and mechanisms will be the most important factor in classifying these disorders, with the phenotype playing a minor role.     

Extended Lateral Supramalleolar Flap for Very Distal Foot Coverage: A Case With Arteriovenous Malformation

Arteriovenous malformation of the foot is very uncommon, and surgical closure after its treatment with embolization and total excision may be challenging for the foot surgeon, particularly in distally localized lesions. A popular method to cover these difficult wounds is free-tissue transfer, which is a highly demanding procedure. Alternatively, distally based regional flaps have been occasionally reported for clinical use in such distant foot defects. Herein, we present a 36-year-old female patient with a diagnosis of arteriovenous malformation arising in the distal medial plantar and dorsal surfaces of the right foot. After surgical resection of the vascular lesion preceded by a misapplied embolization procedure, an extended lateral supramalleolar flap was successfully transferred to the defect area, covering it completely. Functional and aesthetic outcome was satisfactory after 6 months follow-up. Extended lateral supramalleolar flap is a useful and reliable choice for distal foot reconstructions.     

Oligoclonal analysis of the atopic T cell response to the group 1 allergen of Cynodon dactylon (bermuda grass) pollen: pre- and post-allergen-specific immunotherapy

BACKGROUND: Bermuda grass pollen (BGP) is an increasingly important seasonal aeroallergen in Australia and other subtropical and temperate regions. BGP shares minimal allergenic cross-reactivity with pollens of rye grass or other Pooideae grasses often used for desensitization regimens in grass pollen allergy. Current allergen immunotherapy is seldom used in asthmatic patients due to IgE-mediated side effects. Since clinically effective immunotherapy is linked with altered allergen-specific T cell response, characterisation of human T cell reactivity to Cyn d 1, the major B cell allergen of BGP, should permit the design of effective and safe immunotherapy for BGP allergy. METHODS: Short-term BGP-specific CD4+ T cell lines were established from peripheral blood of 14 BGP-sensitive patients before and after conventional 50% BGP and 50% 7-grass mix subcutaneous specific allergen immunotherapy (SIT). T cell diversity of antigen specificity and function was assessed by proliferation and cytokine production to BGP, Cyn d 1 and Cyn d 1 peptides. RESULTS: Three highly immunogenic regions of Cyn d 1 were identified in 13/14 patients pre-SIT: Cyn d 1 (109-128), (181-209) and (217-241). The SIT regimen was clinically efficacious. Following SIT, decreased proliferation to BGP, Cyn d 1 and Cyn d 1 peptides was observed with a marked decrease in the IL-5:IFN-gamma ratio. CONCLUSIONS: Cyn d 1 is a major T cell allergen of BGP. Decreased Cyn d 1-specific IL-5 dominant T cell responses were observed in association with clinically effective treatment with the 50% BGP and 50% 7-grass mix. Identified dominant T cell regions of Cyn d 1 should facilitate safer vaccine development for BGP-induced asthma in addition to rhinitis.     

Interim report in humans of a previously described technique in an animal model: closure of bladder exstrophy with rectus abdominis muscle flap

The aim of this study was to present the results of a new bladder closure and augmentation technique in children born with bladder exstrophy where primary surgical closure was impossible. The technique was performed in four children with small, noncompliant, inelastic bladders in which secondary changes such as squamous epithelial metaplasia and polypoid transformation had developed. During the opration, a full-thickness rectus abdominis muscle island flap with an intact neurovascular pedicle was prepared from the left abdominal quadrant and rotated to cover the bladder defect and aid in augmentation. The inner layer formed by peritoneum was sutured to the edges of the bladder defect. Postoperative endoscopic and histopathologic investigations revealed the inner, peritoneal layer of the flap to be completely covered by transitional urinary bladder epithelium. Considering the advantages of the technique from this limited experience, the evidence suggests that there is no need for a major gastrointestinal operation for bladder augmentation. A reasonable bladder capacity was available, there was no mucus production from the inner layer of the flap, and metabolic and electrolyte disturbances were reduced.     

Contradictory effects of chlorpromazine on endothelial cells in a rat model of endotoxic shock in association with its actions on serum TNF-alpha levels and antioxidant enzyme activities.

We examined the effects of the phenothiazine derivative, chlorpromazine on thoracic aortic endothelial cell histology (14 h after LPS challenge) in a model of endotoxic shock in rats. Since excessive formation of tumor necrosis factor-alpha (TNF-alpha) and oxygen-derived free radicals contribute to endothelial injury in endotoxemia, we also evaluated the effect of the drug on the activities of antioxidant enzymes superoxide dismutase (SOD) and catalase in liver tissue in this model and tried to find out whether this possible effect was associated with a change in serum TNF-alpha levels (measured 90 min after chlorpromazine administration). Endotoxemia was induced by a single i.p. injection of lipopolysaccharide (LPS) (5 mg kg(-1) in 1.5 ml of saline; LPS from Escherichia coli serotype 055:B5, L-2880, Sigma Chemical Company). Electron microscopic evaluation of the aortas revealed that chlorpromazine (administered 30 min prior to LPS challenge), in smaller doses (3 mg kg(-1)) ameliorated the endothelial cell injury caused by LPS, whereas it caused deterioration of endothelial cell morphology in higher doses (10 and 25 mg kg(-1)). Chlorpromazine administration caused a significant reduction in serum TNF-alpha levels, which was correlated well with an increase in SOD activity in all drug doses (3, 10 and 25 mg kg(-1)). Catalase activity was increased only in the 25 mg kg(-1) chlorpromazine group.     

Evaluation of titanium release from titanium alloy implants in patients with spinal instrumentation

ObjectiveThis study was performed to investigate the baseline serum titanium levels in patients with short-segment titanium alloy posterior instrumentation and to assess patient-, implant-, and surgery-related factors that might affect the serum titanium level.MethodTwo groups of patients were included in the study. The study group comprised 39 patients who had undergone short-segment posterior instrumentation from January 2013 to June 2016. The control group comprised 11 randomly selected patients who presented to the outpatient clinic with no history of orthopedic surgery. The serum titanium levels and inter-group differences were analyzed.ResultsThe mean serum titanium level was significantly higher in the study group than in the control group. No significant difference was observed between patients with different etiologies, implants used for fusion, numbers of instrumented segments, or postoperative durations.ConclusionThe serum titanium levels of patients with posterior lumbar spinal instrumentation are significantly higher than those of the normal population even after achievement of solid fusion. These levels are not affected by the use of transverse connectors, the use of cages, the operated segments, or the duration of implants.