Characteristics of patients with congenital clasped thumb: a prospective study of 40 patients with the results of treatment

Purpose  Congenital clasped thumb is a deformity that is associated with heterogeneous congenital anomalies and it has been addressed in many congenital syndromes. The aim of this study was to diagnose and evaluate cases of clasped thumb as regards the associated congenital anomalies and syndromes, and evaluation of the results of treatment of such cases. Methods  A prospective study on 40 patients with 73 clasped thumbs was done. All the patients’ data regarding their personal, family, pregnancy and developmental histories were recorded. All the patients were exposed to thorough clinical and radiological examination and genetic assessment. The cases were classified using the Tsuyuguchi et al. (J Hand Surg [Am] 10:613–618, 1985) classification into three types. Conservative treatment was adopted in ten hands, and surgical treatment was performed for 28 hands in 17 patients, with an average follow-up of 26 months. Results  Positive consanguinity was recorded in 57.5% of cases. Associated anomalies were recorded in 77.5% of cases. Type I was the most common one, followed by type III and then type II. Conservative treatment is effective in type I cases when presented early, and all patients were satisfied with the results of surgical treatment. Conclusions  We reported associated anomalies which are to our knowledge have not mentioned before in the literature which include; congenital blindness, radial deviation of the index finger and ventricular septal defect. We found that 68% of the patients had associated syndromes, and this has not been mentioned before. In this study, we found that there were no difference between type II and type III clasped thumb as regards the pathological findings, severity, the operative procedures, the treatment protocol and the operative results. Properly planned treatment gives satisfactory results.     

Continuous Preperitoneal Infusion of Ropivacaine Provides Effective Analgesia and Accelerates Recovery after Colorectal Surgery: A Randomized, Double-blind, Placebo-controlled Study

Background: Blockade of parietal nociceptive afferents by the use of continuous wound infiltration with local anesthetics may be beneficial in a multimodal approach to postoperative pain management after major surgery. The role of continuous preperitoneal infusion of ropivacaine for pain relief and postoperative recovery after open colorectal resections was evaluated in a randomized, double-blinded, placebo-controlled trial.

Methods: After obtaining written informed consents, a multiholed wound catheter was placed by the surgeon in the preperitoneal space at the end of surgery in patients scheduled to undergo elective open colorectal resection by midline incision. They were thereafter randomly assigned to receive through the catheter either 0.2% ropivacaine (10-ml bolus followed by an infusion of 10 ml/h during 48 h) or the same protocol with 0.9% NaCl. In addition, all patients received patient-controlled intravenous morphine analgesia.

Results: Twenty-one patients were evaluated in each group. Compared with preperitoneal saline, ropivacaine infusion reduced morphine consumption during the first 72 h and improved pain relief at rest during 12 h and while coughing during 48 h. Sleep quality was also better during the first two postoperative nights. Time to recovery of bowel function (74 +/- 19 vs. 105 +/- 54 h; P = 0.02) and duration of hospital stay (115 +/- 25 vs. 147 +/- 53 h; P = 0.02) were significantly reduced in the ropivacaine group. Ropivacaine plasma concentrations remained below the level of toxicity. No side effects were observed.     

Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observations

Reports on genetically informative steroid-responsive (sensitive) idiopathic nephrotic syndrome (SSNS) families are lacking. We studied an extended SSNS Bedouin (B) family with a high rate of consanguinity. The clinical presentation and steroid response of its 11 affected individuals were similar to those of sporadic SSNS (spontaneous remission towards puberty and minimal change disease by kidney biopsy). Genome-wide linkage analysis, using a 382 microsatellite-markers mapping set and additional markers adjacent to 80 candidate genes of the index family, did not support linkage to any chromosomal locus. Retrospective analysis of all additional children with SSNS treated by our institution in the past 20 years (n = 96, 50% of them of Jewish origin) revealed another five non-related B families with 2–3 first-degree cousins affected with SSNS in each. The overall familial SSNS rate among the B population (excluding the index family) was 28%, compared with 4% among Jews (Js) (OR 1.8–64, P < 0.005). There were more Bs with simple SSNS than there were Js (71% and 40%, respectively; OR 3.58, 95% CI 1.41–9.23, P < 0.01). In summary, SSNS in this index family was not linked to any of the presently known chromosomal loci nor predicted to be caused by mutation in any one of a list of genes associated with nephrotic syndrome (NS). The presence of other B families affected by SSNS supports the role for susceptibility genes enrichment, exposing highly consanguineous populations to an increased incidence of SSNS. An erratum to this article can be found at     

Genetic findings in Attention-Deficit and Hyperactivity Disorder (ADHD)

Attention-Deficit and Hyperactivity Disorder (ADHD) is a common child and adolescent psychiatric disorder with a prevalence rate of 3-7%. Formal genetic studies provided an estimated heritability of 0.6-0.8 and an approximately five-fold elevated risk for ADHD in first-degree relatives. Currently, four genome scans have led to the identification of chromosomal regions potentially relevant in ADHD; especially the evidence for linkage to chromosome 5p13 is convincing. Meta-analyses of a large number of candidate gene studies suggest association with gene variants of the dopaminergic receptors DRD4 and DRD5, the serotonergic receptor HTR1B, and the synaptosomal receptor protein (SNAP-25). Hyperactivity has been investigated particularly in animal models, focusing on knockout- and quantitative trait loci (QTL) designs, with promising results for the dopaminergic system. It is likely that several gene polymorphisms with moderate to small effect sizes contribute to the phenotype ADHD; different combinations of such predisposing variants presumably underlie ADHD in different individuals. Therefore, large samples for molecular genetic studies are mandatory to detect these polymorphisms. Accordingly, several of today's findings have to be regarded as preliminary. The understanding of ADHD's neurobiology may be advanced by new technologies, such as SNP-based genome scans performed with gene chips comprising 10,000-1,000,000 SNPs, as well as using more sophisticated animal model designs.     

Reproducibility and agreement of micro-CT and histomorphometry in human trabecular bone with different metabolic status

The use of micro-computed tomography (micro-CT) to study bone microstructure is continuously increasing. Thus, it is important to ensure that micro-CT can differentiate healthy and pathological bone. This study aimed to determine whether the reproducibility of bone histomorphometry and micro-CT, and agreement between the techniques, vary in bone samples with different metabolic status. Iliac crest biopsies (n = 36) were obtained from healthy subjects (n = 10) and from patients with osteoporosis (OP) (n = 15) or renal osteodystrophy (ROD) (n = 11). Micro-CT and histomorphometry analyses were repeated twice. Results were analyzed in separate groups and after pooling the data. Bone histomorphometry detected generally known differences between the diseases, whereas micro-CT did not detect differences between normal and ROD samples as effectively. Repeated measurements for BV/TV, Tb.Th, Tb.N, and Tb.Sp exhibited linear correlation coefficients (ρ) of 0.87–0.92 [coefficients of variations (CV), 8.3–27.2%] for histomorphometry and of 0.66–0.94 (CV, 4.4–23.4%) for micro-CT. There were no significant differences in reproducibility among samples from different study groups. Correlations between BV/TV (micro-CT) and mineralized bone volume (Md.V/TV, histomorphometry) were weaker than between BV/TV (micro-CT) and BV/TV (histomorphometry). When comparing the techniques, BV/TV, Tb.Th, and Tb.N displayed moderate correlations (ρ = 0.39–0.62, P < 0.05), and the agreement for BV/TV was highest in OP samples. The agreement between the techniques using clinical bone samples was moderate. Especially, micro-CT was less effective than bone histomorphometry in differentiating ROD from normal samples. The reproducibility was not affected by the health status of bone. Histomorphometry is still needed in clinical practice to study the remodeling balance in bone, and the methods are complementary.     

Percutaneous drainage of tuberculous iliopsoas abscesses under image guidance

Most intra-abdominal and other types of fluid collections are now successfully drained percutaneously under image guidance. The utility of percutaneous drainage of tuberculous abscesses, especially those associated with osseous changes, is, however, less well established. Six patients with tuberculous iliopsoas abscesses were successfully managed by percutaneous drainage combined with antituberculous therapy. The abscesses were bilateral in one patient and unilateral in the other five. Drainage was by needle aspiration under ultrasound (US) guidance in one patient, and by catheter under CT guidance in the other patients. Three patients had associated osseous changes. There were no procedural complications. Tuberculous iliopsoas abscess can be successfully treated by percutaneous drainage and appropriate antituberculous therapy.     

Evidence-Based Choice of Esophageal Stent for the Palliative Management of Malignant Dysphagia

BACKGROUND: The type of stent used for the management of patients with malignant dysphagia is chosen according to subjective physician's preference. There is no recent study available to provide updated evidence on early outcomes related to the use of different types of stents. METHODS: A literature search was performed using Embase, MEDLINE, Cochrane Library, and Google Scholar databases for comparative studies assessing different types of stents. The primary end point was stent-related mortality; secondary end points included: stent-related morbidity, successful palliation of dysphagia, and 30-day mortality. A random-effects model was used and heterogeneity was assessed. RESULTS: Twelve studies that included 911 patients compared metallic (46.54%) and plastic stents (53.45%), and eight studies that included 564 patients compared covered (43.26%) and uncovered metal stents (56.73%). Meta-analysis of randomized, controlled trials showed that metallic stents were associated with significantly reduced stent-related mortality (1.7% vs. 11.1% for the plastic group, odds ratio (OR), 0.2; 95% confidence interval (CI), 0.06-0.74; P = 0.02), morbidity in the form of reduced esophageal perforation (1.4% vs. 9.4% for plastic stent, OR, 0.27; 95% CI, 0.08-0.89; P = 0.03), and stent migration, yet increased rate of tumor in-growth (13% vs. 1.6% for plastic stents, OR, 4.84; 95% CI, 0.99-23.76; P = 0.05). Covered metallic stents had significantly less tumor in-growth than the uncovered and an increased migration rate. There was no significant difference between metallic and plastic stents in terms of any other stent-related morbidity and 30-day mortality. CONCLUSION: Self-expanding metallic stents are superior to plastic stents in terms of stent insertion-related mortality, morbidity, and quality of palliation. The uncovered variety is disadvantaged by high rate of tumor in-growth; adequately designed randomized, controlled trials need to examine outcomes and cost-effectiveness of covered versus uncovered metallic stents.     

Vastus medialis cross-sectional area is associated with patella cartilage defects and bone volume in healthy women

OBJECTIVES: Although vastus medialis and vastus lateralis are important muscular determinants of patellofemoral joint function, it is unclear how these muscles relate to the structure of the patellofemoral joint. The aim of this cross-sectional study was to determine the relationship between the vasti muscles and patella cartilage volume and defects and patella bone volume. METHODS: One hundred and seventy-five women, aged 40-67 years, with no knee pain or clinical lower-limb disease had magnetic resonance imaging (MRI) of their dominant knee. The cross-sectional areas of the distal vastus medialis and lateralis were measured 37.5mm superior to the quadriceps tendon insertion at the proximal pole of the patella. Patella cartilage volume and defects and patella bone volume were measured from these images using validated methods. RESULTS: There was no significant association between the distal vastus medialis cross-sectional area and patella cartilage volume. For every 1mm(2) increase in the distal vastus medialis cross-sectional area, there was an associated increased risk of patella cartilage defects [odds ratio (OR): 1.2; 95% confidence interval (CI) 1.004, 1.5; P=0.05], and an associated increase in patella bone volume (OR: 3.9; 95% CI 2.0, 5.8; P<0.001) after adjustment for potential confounders. There was no significant relationship between vastus lateralis cross-sectional area and measures of patella cartilage or bone. CONCLUSION: An increased cross-sectional area of the distal portion of the vastus medialis muscle is associated with an increased risk of patella cartilage defects, and an increase in patella bone volume among healthy women. Although these results need to be confirmed in longitudinal studies, they suggest that an increase in the distal vastus medialis cross-sectional area is associated with structural change at the patellofemoral joint.     

Lack of enteral feeding increases expression of E-selectin after LPS challenge

BACKGROUND: Total parenteral nutrition (IV-TPN) increases neutrophil accumulation in the small intestine, expression of intestinal ICAM-1 and P-selectin, and upregulates E-selectin expression in the lung. Endothelial activation induced by lack of enteral nutrition may change the response to injury or infection. This study investigated whether nutrition influenced the expression of the adhesion molecule, E-selectin and ICAM-1, following endotoxin challenge. MATERIALS AND METHODS: Forty-three mice were injected with saline, 2, 20, 200, 2000, or 10000 microg/kg lipopolysaccharide (LPS) intraperitoneally. E-selectin expression in the lung, small intestine, and heart was quantified at 3 h after challenge, while ICAM-1 was measured at 5 h, using the dual-radiolabeled monoclonal antibody technique. Next, 80 mice were fed chow, intragastric (IG)-TPN, or IV-TPN for 5 days, and then received intraperitoneal 2 or 200 microg/kg LPS. E-selectin and ICAM-1 expression in organs was measured at 3 and 5 h after endotoxin, respectively. RESULTS: E-selectin expression in organs increased LPS dose dependently. ICAM-1 levels reached early peaks in the lung and in the intestine. Also, IV-TPN significantly increased E-selectin expression in the small intestine and tended to increase pulmonary E-selectin, when compared to chow or IG-TPN animals. There were no significant differences in E-selectin expression among three diet groups after 200 microg/kg LPS challenge. No differences in ICAM-1 expression were observed in any organ among the three groups after 2 or 200 microg/kg LPS injection. CONCLUSIONS: E-selectin rather than ICAM-1, because of the expression pattern after various dosages of LPS challenge, may be a determining factor for the degree of LPS-induced inflammation at the early phase. Lack of enteral nutrition may increase inflammatory response through enhanced gut E-selectin levels after a small dose of LPS.     

Haplotypes of transcription factor 7-like 2 (TCF7L2) gene and its upstream region are associated with type 2 diabetes and age of onset in Mexican Americans

TCF7L2 acts as both a repressor and transactivator of genes, as directed by the Wnt signaling pathway. Recently, several highly correlated sequence variants located within a haplotype block of the TCF7L2 gene were observed to associate with type 2 diabetes in three Caucasian cohorts. We previously reported linkage of type 2 diabetes in the San Antonio Family Diabetes Study (SAFADS) cohort consisting of extended pedigrees of Mexican Americans to the region of chromosome 10q harboring TCF7L2. We therefore genotyped 11 single nucleotide polymorphisms (SNPs) from nine haplotype blocks across the gene in 545 SAFADS subjects (178 diabetic) to investigate their role in diabetes pathogenesis. We observed nominal association between four SNPs (rs10885390, rs7903146, rs12255372, and rs3814573) in three haplotype blocks and type 2 diabetes, age at diagnosis, and 2-h glucose levels (P = 0.001-0.055). Furthermore, we identified a common protective haplotype defined by these four SNPs that was significantly associated with type 2 diabetes and age at diagnosis (P = 4.2 x 10(-5), relative risk [RR] 0.69; P = 6.7 x 10(-6), respectively) and a haplotype that confers diabetes risk that contains the rare alleles at SNPs rs10885390 and rs12255372 (P = 0.02, RR 1.64). These data provide evidence that variation in the TCF7L2 genomic region may affect risk for type 2 diabetes in Mexican Americans, but the attributable risk may be lower than in Caucasian populations.