Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36

Triphalangeal thumb-polysyndactyly (TPT-PS) is an isolated limb malformation consisting of pre- and postaxial polysyndactyly of hands and feet. The only family reported so far is of Dutch origin, and the genetic mapping study localized the TPT-PS locus at chromosome region 7q36 where the isolated triphalangeal thumb (TPT) anomaly has also been mapped. It was suggested that TPT-PS is a phenotypic variation of isolated TPT, and the same ancestral mutation may produce both phenotypes. Here we report on the second family with this malformation from the Turkish population. The characteristic findings in this family are triphalangeal thumb, webbing between 3rd, 4th, and 5th fingers associated with bony synostosis in the distal phalanges of the same fingers, and pre- and postaxial polysyndactyly of feet. Some individuals show a more severe phenotype with a complete syndactyly of all fingers giving a "cup-like" appearance to the hands. Genetic linkage study with DNA markers D7S1823, D7S550, D7S559, and D7S2423 demonstrated that this family is also linked to chromosome band 7q36. Identification of a second family from a distinct ethnic background suggests that TPT-PS and isolated TPT are not caused by the same ancestral mutation as it was originally anticipated.     

The comparison of dual phase Tc-99m MIBI and Tc-99m MDP scintimammography in the evaluation of breast masses: Preliminary report

The aim of this prospective study was to determine the diagnostic value of Tc-99m MDP scintimammography (SMG) for the detection of breast cancer in patients with breast masses and to compare the results with Tc-99m MIBI scintimammography. Twenty patients, categorized as suspicious, positive or benign for breast cancer according to the mammographic findings were included in the study. Dual phase Tc-99m MIBI and Tc-99m MDP SMG were performed in the prone lateral position within 5 days of each other. Although early and late Tc-99m MIBI SMG showed equal (90.4%) sensitivity, the specificity of late Tc-99m MIBI (87.5%) was found superior to early (62.5%) imaging. The overall sensitivity and specificity of early Tc-99m MDP SMG were 71.4% and 62.5%, respectively. Although late Tc-99m MDP imaging showed 100% specificity, its sensitivity was only 23.8%. In the patients with palpable masses, both early Tc-99m MDP and Tc-99m MIBI showed equal sensitivity (100%), but the sensitivity of early Tc-99m MIBI (37.5%) was found slightly higher than Tc-99m MDP (25.0%) for nonpalpable breast lesions. The sensitivity of Tc-99m MIBI and Tc-99m MDP SMG in detecting metastatic axillary involvement was 66.6% and 50%, respectively. High sensitivity and specificity together with its low cost, easy availability and the possibility of detecting bone metastases seems to make Tc-99m MDP a contributive agent in the evaluation of breast lesions as an alternative to Tc-99m MIBI.     

Role of surgery in colorectal cancer liver metastases

Colorectal carcinoma (CRC) is the third most common cancer, and approximately 35%-55% of patients with CRC will develop hepatic metastases during the course of their disease. Surgical resection represents the only chance of long-term survival. The goal of surgery should be to resect all metastases with negative histological margins while preserving sufficient functional hepatic parenchyma. Although resection remains the only chance of long-term survival, management strategies should be tailored for each case. For patients with extensive metastatic disease who would otherwise be unresectable, the combination of advances in medical therapy, such as systemic chemotherapy (CTX), and the improvement in surgical techniques for metastatic disease, have enhanced prognosis with prolongation of the median survival rate and cure. The use of portal vein embolization and preoperative CTX may also increase the number of patients suitable for surgical treatment. Despite current treatment options, many patients still experience a recurrence after hepatic resection. More active systemic CTX agents are being used increasingly as adjuvant therapy either before or after surgery. Local tumor ablative therapies, such as microwave coagulation therapy and radiofrequency ablation therapy, should be considered as an adjunct to hepatic resection, in which resection cannot deal with all of the tumor lesions. Formulation of an individualized plan, which combines surgery with systemic CTX, is a necessary task of the multidisciplinary team. The aim of this paper is to discuss different approaches for patients that are treated due to CRC liver metastasis.     

Red cell distribution width to platelet ratio: New and promising prognostic marker in acute pancreatitis

AIM: To evaluate the accuracy of red cell distribution width (RDW) to platelet ratio (RPR) to predict in-hospital mortality in acute pancreatitis (AP).METHODS: Between January 2010 and June 2012, 102 patients with AP were recruited to the study. In this retrospective cohort study, for all subjects, demographic data on hospital admission, AP etiology, co-morbid diseases, organ failure assessment, laboratory parameters and length of hospital stay were examined. Additionally, we used a non-invasive prediction method in addition to the RPR to evaluate the disease severity. Multivariate logistic regression analyses were used to evaluate the impact of RPR on hospital admission to predict mortality.RESULTS: The male-female ratio (59/43) was 1.37 with a median age of 56.5 years (17-89 years). In both univariate and multivariate analyses, RDW and RPR were presented as independent and significant variables on admission to predict mortality. The RPR obtained on hospital admission was persistently higher among non-survivors than among survivors (P < 0.0001). The median RPR was 0.000087 in the non-survivor group and 0.000058 in the survivor group. RPR with a cutoff value of 0.000067 presented an area under the curve of 0.783 (95%CI: 0.688-0.878) in receiver operating characteristic curves and could predict the mortality of approximately 80% of the patients.CONCLUSION: We identified RPR as a valuable, novel laboratory test to predict mortality in AP.     

Factors Affecting Morbidity and Mortality in Patients Who Underwent Emergency Operation for Incarcerated Abdominal Wall Hernia

Patients with incarcerated abdominal wall hernias (AWHs) are often encountered in emergency care units. Despite advances in anesthesia, antisepsis, antibiotic therapy, and fluid therapy, the morbidity and mortality rates for these patients remain high. Between 2006 and 2011, we retrospectively analyzed the cases of 131 patients who underwent emergency surgery for incarcerated abdominal wall hernias. Of these, there were 70 women (53.4%) and 61 men (46.6%) with an average age of 63.3 ± 17.4 years (range, 17–91 years). Morbidity was observed in 28 patients (21.4%), and the mortality rate was 2.3%. Intestinal resection, presence of concomitant disease, and general anesthesia were the independent variants that affected morbidity of patients with incarcerated abdominal wall hernias.     

Comparison of the morphokinetic parameters of embryos according to ovarian reserve in IVF cycles

The aim of this study is to evaluate the impact of ovarian reserve and age of women on early morphokinetic parameters of embryos with a time-lapse monitoring system. In total, 197 infertile couples with poor ovarian reserve (Group 1, n?=?41), normal ovarian reserve (Group 2, n?=?59), or polycystic ovaries (Group 3, n?=?97) were included. The time from insemination to the following events were analyzed: pronuclear fading (Pnf) and cleavage to 2, 3, 4 and 5 cells. The optimal ranges for morphokinetic parameters of t5, s2 and cc2 in each group were also evaluated. In total, 1144 embryos were evaluated. Morphokinetic parameters did not differ statistically between the groups. Data were analyzed according to different age groups (20–30, 30–40,?>40). The morphokinetic parameters did not differ statistically in Group 1 and 3. In Group 2, the times from insemination to tPnf, t2, t3, t4 were significantly shorter in the younger age group than the older age group (p?相似文献   

A Combination of Nifedipine and OctreotideTreatment in an HyperinsulinemicHypoglycemic Infant

Hyperinsulinemic hypoglycemia (HH) is the commonest cause of persistent hypoglycemia in the neonatal and infancy periods. Mutations in the ABCC8 and KCNJ11 genes, which encode subunits of the ATP-sensitive potassium channel in the pancreatic beta cell, are identified in approximately 50% of these patients. The first-line drug in the treatment of HH is diazoxide. Octreotide and glucagon can be used in patients who show no response to diazoxide. Nifedipine, a calcium-channel blocker, has been shown to be an effective treatment in a small number of patients with diazoxide-unresponsive HH. We report a HH patient with a homozygous ABCC8 mutation (p.W1339X) who underwent a near-total pancreatectomy at 2 months of age due to a lack of response to diazoxide and octreotide treatment. Severe hypoglycemic attacks continued following surgery, while the patient was being treated with octreotide. These attacks resolved when nifedipine was introduced. Whilst our patient responded well to nifedipine, the dosage could not be increased to 0.75 mg/kg/day due to development of hypotension, a reported side effect of this drug. Currently, our patient, now aged 4 years, is receiving a combination of nifedipine and octreotide treatment. He is under good control and shows no side effects. In conclusion, nifedipine treatment can be started in patients with HH who show a poor response to diazoxide and octreotide treatment.