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.     

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.     

A Case of Distal Vaginal Agenesis Presenting with Recurrent Urinary Tract Infection and Pyuria in a Prepubertal Girl

Background

Isolated distal vaginal agenesis is a rare anomaly and mostly becomes symptomatic after menarche. We describe an unusual presentation of this anomaly in a prepubertal girl.

Endovascular management of renal angiomyolipomas: Do coils have a benefit in terms of clinical success rates?

PURPOSEThis study evaluated single-center results of endovascular treatment in renal angiomyolipoma (AML) to determine whether there is clinical relevance of adding proximal coil embolization to distal particle embolization in terms of safety, efficacy, and retreatment rates.METHODSA retrospective analysis was performed to evaluate patients undergoing transarterial embolization for renal AMLs from January 2007 to October 2020. Parameters regarding patient and tumor characteristics, embolization technique, treatment outcome, and complications were recorded. Patients were divided into 2 groups as A (only particle group) and B (particle + coil group) based on the type of embolic agent used for treatment. Comparative analysis was performed between the 2 groups in terms of tumor size reduction, retreatment, and complication rates. RESULTSIn this study, 42 patients (37 (88.1%) females and 5 (11.9%) males) harboring 48 AMLs were included. The mean age was 43.46 (range, 20-78). The technical success rate was 95.8% (46 of 48 procedures). The mean size reduction was 1.94 ± 1 cm (P  < .001) after treatments; however, no significant difference was seen between groups in terms of tumor size reduction. Retreatment rates were 3.1% (1 of 32 cases) in group A and 14.3% (2 of 14 cases) in group B (P  = .21). No significant difference was found between groups in terms of bleeding and complication rates during the perioperative period. Mean follow-up duration was 26.48 ± 25.71 (range, 2-102) months.CONCLUSIONIn this study, no clear supplementary benefit was observed in terms of safety and efficacy with the adjunction of coils to distal particle embolization in the management of AMLs.

Main points

• Transarterial embolization is safe and effective in reducing lesion size and bleeding rates in the management of angiomyolipomas.
• Lesion size reduction can be achieved with both techniques; solely microparticle embolization or distal microparticle embolization plus proximal coil embolization.
• Proximal coil embolization does not provide an additional benefit with lesions having intratumoral microaneurysms ≥5 mm as the study showed no difference in complication and bleeding rates.

Renal angiomyolipoma (AML) is one of the most common benign tumors of the kidney, with an incidence of 0.4% in the general population.^1,2 AMLs are seen in 2 forms; sporadic and tuberosclerosis (TSC) related. Sporadic form accounts for 80% of the AML cases. TSC-related AMLs tend to be bilateral, multifocal, larger with a faster growth rate and are more symptomatic than the sporadic type.³ AMLs have slow growth rates and rarely necessitate invasive treatment at all times.⁴ Historical data suggest that AMLs equal to or larger than 4 cm and those that have 5 mm or larger microaneurysms tend to be more symptomatic and prone to hemorrhage.^5,6 Although a treatment indication based on tumor size larger than 4 cm is subject to dispute,⁷ treatment decisions are often made using these cut-off values in the literature. Treatment options consist of medical treatment, surgery, transarterial embolization (TAE), and thermal ablation with no definitive recommendation on the first-line treatment choice.^8,9 However, because of its less-invasive nature, TAE is a favored choice in the management of AMLs over surgery. So far, various embolic agents (ethanol, microparticles, coils, gel foam, etc.) have been used in the management of patients with AML.¹⁰ Concerning the embolic materials, Patatas et al.¹¹ compared solely coil embolization with solely microparticle embolization in transarterial embolization of AMLs. They found similar reduction rates on computed tomography (CT) follow-up between the 2 groups. Ewalt et al.¹² showed that microparticle plus coil embolization is effective in terms of size reduction in large (>4 cm) and symptomatic and TSC-related AMLs. Although based on the literature, coils, microparticles, and microparticle + coil embolization are all safe and efficient, there are no clear data on the additional benefit of adding coil embolization to microparticle embolization in terms of treatment efficacy. Therefore, this study aimed to evaluate within single-center results whether there is clinical relevance of adding proximal coil embolization to distal microparticle embolization in terms of safety, efficacy, and retreatment rates.     

Early osteoblastic activity on TiO2 thin films decorated with flower-like hierarchical Au structures

Titanium alloys are the most commonly used dental and orthopedic implant materials due to their proven biocompatibility and mechanical properties. The native oxide layer (TiO₂ layer) formed on such Ti-based implants acts as the self-protecting layer against possible ion release. Increasing the oxide layer thickness further on such TiO₂ implants even opens the triggering of the osseointegration process if the oxide layer is having a certain degree of roughness, preferably higher. This work reports a novel photocatalytic patterning of sputter deposited TiO₂ layers with flower-like Au structures to enhance the early osteoblastic activity. The prepared hierarchical Au structures, composed of micro- and nanoscale features on the top, lead to improved number of filopodia formation. This suggest that proposed Au–TiO₂ surface may foster the cell attachment and as well as cell proliferation.

Flower-like hierarchical Au structures, composed of micro- and nanoscale features, lead to higher number of filopodia formation on TiO₂ thin films.