Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

Background

Functional rehabilitation of patients afflicted with severe mandibular and maxillary alveolar atrophy might be challenging especially in malformed patients.

Methods

Treatment planning using sinus lifting and implant placement before Le Fort I maxillary osteotomy in a patient with severe mandibular and posterior maxillary alveolar atrophy and skelettal class-III conditions due to cleft palate are described.

Results

A full functional and esthetic rehabilitation of the patient was achieved by a stepwise surgical approach performed through sinus lifting as the primary approach followed by implant placement and subsequent Le Fort I maxillary osteotomy to correct the maxillo-mandibular relation.

Conclusion

Stabilisation of the maxillary complex by a sinus lifting procedure in combination with computer aided implant placement as preorthodontic planning procedure before Le Fort I maxillary osteotomy seems to be suitable in order to allow ideal oral rehabilitation especially in malformed patients.     

Gastric Emptying of Solids and Semi-solids in Morbidly Obese and Non-obese Subjects: An Assessment Using the <Superscript>13</Superscript>C-Octanoic Acid and <Superscript>13</Superscript>C-Acetic Acid Breath Tests

Background It has been suggested that obesity is associated with an altered rate of gastric emptying. The objective of the present study was to determine whether the rates of solid and semi-solid gastric emptying differ between morbidly obese patients and lean subjects. Methods The Gastric-emptying time (GET) of solid and semi-solid meals were compared between lean healthy subjects and morbidly obese patients enrolled in two previously published studies. GET of solid and semi-solid meals was measured using the ¹³C-octanoic acid breath test and ¹³C-acetic acid breath test, respectively, in 24 lean and 14 morbidly obese individuals of both sexes. Student t-test was used to compare the mean data between the lean and morbidly obese groups. The influence of sex, gender, BMI and morbid obesity on the GET of solid meals was verified by linear regression analysis. Results Mean t(1/2) values of solid GET (± standard deviation) were 203.6 ±  76.0 min and 143.5 ± 19.1 min for lean and obese subjects, respectively (P = 0.0010). Mean t(lag) values of solid GET were 127.3 ± 42.7 min and 98.4 ± 13.0 min for lean and obese subjects, respectively (P = 0.0044). No significant difference in semi-solid GET was observed between the lean and morbidly obese groups. Conclusion The present study demonstrated a significantly enhanced gastric emptying of the solid meal test in morbidly obese patients when compared to lean subjects. This finding is compatible with the hypothesis that rapid gastric emptying in morbidly obese subjects increases caloric intake due to a more rapid loss of satiety.     

Liver resection without hilus preparation and with selective intrahepatic hilus stapling for benign tumors and liver metastasis

Background Nowadays, liver resection is a routine operative procedure in surgical centers, and strategies must be aimed at avoiding additional risk factors. Extrahepatic isolation of portal vein, hepatic artery and hepatic duct, as well as lymphadenectomy of the liver hilum are generally accepted steps of liver resection, even for metastatic and benign indications. Our primary aim was to analyze the feasibility, blood loss, blood transfusion requirements, incidence of complications, and outcome using the approach for intrahepatic devascularization leaving the extrahepatic hilus untouched. Materials and methods Thirty-eight consecutive patients with resection for metastases and benign liver tumors were selected. After hilar examination, the extrahepatic structures remain intact, and during parenchyma dissection, the whole right or left or the appropriate bi-segmental pedicle is isolated intrahepatically and then transected using a stapler device. Results The used technique was feasible in all cases, and no intra- or postoperative surgical complications were observed. To date, no tumor recurrence was found in the hilum during the follow-up period. Conclusion The intrahepatic pedicle stapling technique appears to be feasible and safe in liver resection. Hilar dissection can, thus, be avoided in liver metastasis and benign liver tumors.     

Axillary Lymph Node Echo-Guided Fine-Needle Aspiration Cytology Enables Breast Cancer Patients to Avoid a Sentinel Lymph Node Biopsy. Preliminary Experience and a Review of the Literature

Purpose For many years, the status of the axillary lymph nodes has been determined by an axillary lymphadenectomy. However, a sentinel lymph node biopsy has been shown to effectively replace the need for an axillary lymphadenectomy in order to determine the axillary staging. This study presents the preliminary results regarding the efficacy of fine-needle aspiration cytology (FNAC) to identify metastatic axillary lymph nodes in the pre-operative phase. Methods One hundred lymph nodes from 100 patients with histologically and cytologically confirmed breast cancer (cT1–2 cN0) underwent echo-guided FNAC. The diagnostic accuracy (sensitivity, specificity, positive predictive value [PPV], negative predictive value [NPV]) for the axillary metastases was evaluated based on the histological findings of either a sentinel lymph node biopsy or an axillary lymphadenectomy as a reference standard. Results It was possible to avoid a sentinel lymph node biopsy in 30% of the cases; the sensitivity was 68%, specificity 100%, PPV 100%, and NPV 65%. Echo-guided FNAC of the axillary lymph nodes should thus be included among the regular diagnostic procedures of presurgical staging. Conclusion This simple, inexpensive, and minimally invasive technique makes it possible to avoid the additional cost of a sentinel lymph node biopsy while also sparing the patient the stress of undergoing a second surgery.     

Intraluminal Intestinal Administration of Oxygenated Perfluorocarbon Improves Acid–Base and Cardiopulmonary Parameters After Acute Mesenteric Ischemia. An Experimental Study in Rabbits

Purpose The aim of this study was to evaluate the effects of the intraluminal intestinal administration of oxygenated perfluorocarbon, during experimental acute intestinal ischemia, on the acid–base blood status and the cardiopulmonary parameters. Methods Thirty-six rabbits were separated into three groups: (a) Control group (ischemia alone), (b) PFC-O₂ group (ischemia plus infusion of oxygenated F-Decalin in intraluminal intestinal administration), and (c) PFC group (ischemia plus infusion of nonoxygenated F-Decalin in intraluminal intestinal administration). An equal number of the animals was then subjected to 8 h of intestinal ischemia by ligation of the superior mesenteric artery (subgroups 1), the mesenteric vein (subgroups 2) or both vessels (subgroups 3). At 0, 2, 4, 6, and 8 h arterial blood samples were taken for acid–base status tests and the vital signs (heart and respiratory rate, pressure of inferior vena cava, and systolic arterial pressure) were noted. The statistical analysis was performed by the nonparametric Kruskal–Wallis test. Results There were no significant differences in any of the studied parameters (pH, base excess, respiratory gases, pressure of inferior vena cava, systolic arterial pressure, heart and respiratory rate) between animals of the same group and subgroup. In addition, the differences among Control and PFC groups and their equal subgroups were not significant. On the other hand, the measurements of the PFC-O₂ animals showed significant differences at 4, 6, and 8 h of ischemia (P < 0.05) in comparison with those from the Control and PFC groups. Conclusion We conclude that the intraluminal intestinal administration of oxygenated perfluorocarbons may thus be a useful adjunctive therapy in the treatment of patients with acute mesenteric ischemia.     

Risk factors for renal scarring in children and adolescents with lower urinary tract dysfunction

Risk factors for renal scarring in children with lower urinary tract dysfunction (LUTD) were evaluated. The medical records of 120 patients were assessed concerning gender, presence of vesicoureteric reflux (VUR), bladder capacity, detrusor overactivity, residual urine, febrile urinary tract infection (UTI), bacteriuria, constipation, detrusor sphincter incoordination (DSI), high detrusor pressure at maximal cystometric capacity (PMCC), low compliance, and thickness and trabeculation of the bladder wall. Renal scarring was diagnosed by ^99mtechnetium-dimercaptosuccinic acid renal scan (DMSA). Renal scarring was detected in 38 patients (31%). VUR, UTI, decreased bladder capacity, urinary residue, and trabeculated and thick bladder wall were associated with scarring at univariate analysis. Multivariate analysis showed VUR (P < 0.0001) as the independent risk factor for renal scarring. Thickness of the bladder wall was a marginal risk factor (P  = 0.07). Although UTI was not a risk factor, it was associated with VUR (P  = 0.03). In our analysis, VUR was the main risk factor; however, renal scarring was probably due to multifactorial causes, as VUR was associated with UTI.     

Stapled Hemorrhoidopexy: A Prospective Study From Pathology to Clinical Outcome

Stapled hemorrhoidopexy is widely accepted to treat hemorrhoids, but serious complications have been reported. In this prospective audit, we correlated clinical outcome with pathological findings. From January 2003 to April 2007, 94 patients underwent hemorrhoidopexy. Macroscopic appearance of the specimen (shape, size, and depth) was recorded. Microscopically, the presence of columnar, transitional, and squamous epithelium, the involvement of circular/longitudinal smooth muscle, and features of mucosal prolapse were assessed. Clinical outcome was evaluated by a validated questionnaire. Postoperative pain, secretion, and bleeding durations were 12.7 +/− 10.6, 5.6 +/− 9.6, and 6.3 +/− 8.4 days. Patient’s return to work averaged 16.7 +/− 10.7 days. Fissure, skin tags, and anal strictures were observed in 23.4%. Seven patients experienced pain for a significantly longer period of time. All specimens contained columnar mucosa, but 29.8% contained columnar and transitional epithelium and 12.8% contained columnar, anal transitional, and stratified squamous epithelium. Smooth muscle was observed in 62.7%. Pain was significantly increased if transitional epithelium was present in the specimen. No correlation or differences were observed if smooth muscle was present, although postoperative bleeding was more frequent. Hemorrhoidopexy is safe and effective. The specimen should always be sent for pathology examination. Only columnar epithelium should be present and, although the presence of smooth muscle does not influence the outcome in terms of functional results, its presence may play a role in postoperative bleeding. Presented as poster at the Digestive Disease Week, May 2007, Washington, USA     

Hepatic stellate cell activation in liver transplant patients with hepatitis C recurrence and in non-transplanted patients with chronic hepatitis C.

The pathogenic mechanisms of accelerated graft fibrosis in hepatitis C recurrence after liver transplantation (LT) are not well established. The aim of the study was to assess whether a greater activation of hepatic stellate cells (HSC), the major collagen-producing cells in the liver, can occur in these patients as compared to non-LT patients with chronic hepatitis C. We determined the amount of activated HSC by computer-based morphometric analysis of alpha-smooth muscle actin (alphaSMA)-positive cells and the hepatic TGFbeta(1) expression by immunohistochemistry in 46 LT patients with hepatitis C recurrence, 35 non-LT patients with chronic hepatitis C, and 16 controls. Hepatic alphaSMA and TGFbeta(1) expression was higher in LT patients with hepatitis C recurrence than in controls and was correlated with fibrosis stage and progression rate. No significant difference in alphaSMA and TGFbeta(1) expression was observed between LT and non-LT patients with hepatitis C, with the exception of a higher transforming growth factor beta-1 (TGFbeta(1)) expression in non-LT patients in the early stages of fibrosis. LT patients receiving cyclosporine (CsA) or tacrolimus (FK) had a similar fibrosis progression rate and alphaSMA and TGFbeta(1) expression. In conclusion, the accelerated fibrosis observed in LT patients with hepatitis C recurrence does not seem to be related to a greater amount of activated HSC and TGFbeta(1) expression in the grafts of these patients as compared to non-LT patients with chronic hepatitis C. In LT patients, the amount of activated HSC and TGFbeta(1) expression correlated with fibrosis stage and progression, without any apparent influence of the type of calcineurin inhibitor administered.     

Waist Circumference is Useless to Assess the Prevalence of Metabolic Abnormalities in Severely Obese Women

BACKGROUND: The present retrospective study aims to provide additional evidence supporting the fact that waist circumference, in severe obesity, is not a good clinical marker to identify individuals with the metabolic syndrome or an altered metabolic profile. METHODS: Relationships between waist circumference and metabolic profile of pre- (n=165) and postmenopausal (n=43) severely obese women were compared to associations observed in pre- (n=52) and postmenopausal (n=35) moderately obese women. RESULTS: Results showed that abdominal obesity assessed by waist circumference was more highly correlated with fasting glycemia, HDL-cholesterol and the cholesterol/HDL-cholesterol ratio in moderately than in severely obese women, before menopause. After menopause, waist circumference was not a valuable predictor of metabolic abnormalities in both groups. Moreover, when waist circumference was included as a criterion of the metabolic syndrome (as defined by the NCEP ATP III guidelines) in severely obese women, the prevalence of this metabolic condition was over-estimated by 72%. CONCLUSION: These results emphasize the uselessness of waist circumference to assess the prevalence of the metabolic syndrome or an altered metabolic profile in severely obese women.     

Progressive exercise for anabolism in kidney disease (PEAK): a randomized, controlled trial of resistance training during hemodialysis

Skeletal muscle wasting is common and insidious in patients who receive maintenance hemodialysis treatment for the management of ESRD. The objective of this study was to determine whether 12 wk of high-intensity, progressive resistance training (PRT) administered during routine hemodialysis treatment could improve skeletal muscle quantity and quality versus usual care. Forty-nine patients (62.6 +/- 14.2 yr; 0.3 to 16.7 yr on dialysis) were recruited from the outpatient hemodialysis unit of the St. George Public Hospital (Sydney, Australia). Patients were randomized to PRT + usual care (n = 24) or usual care control only (n = 25). The PRT group performed two sets of 10 exercises at a high intensity (15 to 17/20 on the Borg Scale) using free weights, three times per week for 12 wk during routine hemodialysis treatment. Primary outcomes included thigh muscle quantity (cross-sectional area [CSA]) and quality (intramuscular lipid content via attenuation) evaluated by computed tomography scan. Secondary outcomes included muscle strength, exercise capacity, body circumference measures, proinflammatory cytokine C-reactive protein, and quality of life. There was no statistically significant difference in muscle CSA change between groups. However, there were statistically significant improvements in muscle attenuation, muscle strength, mid-thigh and mid-arm circumference, body weight, and C-reactive protein in the PRT group relative to the nonexercising control group. These findings suggest that patients with ESRD can improve skeletal muscle quality and derive other health-related adaptations solely by engaging in a 12-wk high-intensity PRT regimen during routine hemodialysis treatment sessions. Longer training durations or more sensitive analysis techniques may be required to document alterations in muscle CSA.