A new syndrome with cardiac malformation,cleft lip-palate,microcephaly and digital anomalies?

A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant.     

Diabetes education: a chance to improve well-being of Turkish people with type 2 diabetes

To examine the influence of diabetes education on well-being, 255 patients with type 2 diabetes were recruited according to whether they attended a diabetes education program (n=126) or not (n=129). In patients who had participated in the program, the mean anxiety score was significantly lower, whereas positive well-being and general well-being scores were significantly higher than for patients who had not participated. Factors related to lower well-being included: being female, taking insulin, not attending a diabetes education program and having HbA(1c) level greater than 8%. The odds of having better well-being were two-fold higher in patients participating the diabetes education program compared with those who had not. Diabetes education has a crucial role in improving the well-being of patients with type 2 diabetes. All patients with diabetes should be encouraged to attend a diabetes education program.     

Is there any correlation between restriction fragment length polymorphism of the L-MYC gene and metastasis of human nonsmall cell lung cancer?

A potential molecular marker associated with cancer susceptibility as well as metastasis, prognosis and adverse survival, is the L-myc gene. The studies of lung cancer patients from different populations have yielded controversial results. We studied 64 nonsmall cell lung cancer (NSCLC) patients and 37 healthy controls of Turkish origin for L-myc gene polymorphism. Our aim was to test the hypothesis that there was association between L-myc S allele in NSCLC and predisposition to the disease and TNM stage indicating tumor size, node classification and metastasis. Polymerase chain reaction restriction fragment length polymorphism and agarose gel electrophoresis were used to determine the L-myc oncogene genotypes. We found no significant difference, both in the distribution of the LL, LS and SS genotypes and in the allelic frequencies, between the patient group and the control group; that is, the frequencies of L-myc alleles were, L and S, 0.59 and 0.41, 0.60 and 0.40, respectively. Our data between the patient group and the control group; that is, the frequencies of L-myc alleles were, L and S, 0.59 and 0.41, 0.60 and 0.40, respectively. Our data concerning age, sex, size of tumors, histological type of tumors showed no significant association with L-myc genotype. However, a higher frequency of L-myc S allele in the squamous cell carcinoma compared to other histological groups was found, although this difference was not statistically significant. No association was found between the L-myc RFLP and increased risk of metastasis either to the lymph nodes or to other organs. Our results suggested that L-myc gene polymorphism was not a suitable prognostic marker of metastatic development in Turkish NSCLC patients.     

Comparison of agonistic flare-up-protocol and antagonistic multiple dose protocol in ovarian stimulation of poor responders: results of a prospective randomized trial

The management of poor responders in IVF has always been a big problem. The ideal approach has yet to be formulated. In this study we aim to compare two alternative stimulation protocols. A total of 48 poor responder patients described from previous cycles were included and grouped into two: group I consisted of 24 patients in 24 cycles in which leuprolide acetate (40 microg s.c. per day) was initiated on cycle day 2 followed by exogenous gonadotrophins on cycle day 3; group II consisted of 24 patients in 24 cycles in which ovarian stimulation included gonadotrophin-releasing hormone (GnRH) antagonist (cetrorelix, 0.25 mg daily during late follicular phase) administration. While only the oestradiol concentrations on the day of HCG were lower in group II compared with group I, the clinical pregnancy and implantation rates among groups did not show any significance. The impact of these two regimens in ovarian stimulation of poor responders seem to be same and to establish these results further randomized studies with larger sample sizes are required.     

Survivin expression in non-small-cell lung carcinomas: correlation with apoptosis and other apoptosis-related proteins, clinicopathologic prognostic factors and prognosis.

The role of survivin that regulates the biological behavior of non-small-cell lung carcinoma (NSCLC) is still controversial. We aimed to investigate survivin expression in NSCLC and to define any correlation with expressions of p53, bcl-2, bax, apoptotic index (AI), tumor cell proliferation, clinicopathologic variables, and overall survival. Tumors of 63 patients with NSCLC were examined for expressions of survivin, p53, bcl-2, bax, and Ki-67 by immunohistochemistry. AI was also evaluated. Results for each antibody were correlated with each other, and with clinicopathologic variables including age, sex, histologic subtype, TNM (T: primary tumor, N: regional lymph node metastasis, M: distant metastasis) stage, lymph node status, smoking history, and prognosis. Nuclear survivin expression was inversely correlated with p53 expression (P = 0.04, r = - 0.367), and tumor stage (P = 0.03, r = - 0.273), and positively correlated with tumor cell proliferation (P = 0.009, r = 0.329). Cytoplasmic survivin expression positively correlated with smoking history (P = 0.02, r = 0.282). Survivin/bax ratio was inversely correlated with AI (r: - 0.004). By Kaplan-Meier analysis, TNM stage (P < or = 0.001), lymph node metastasis (P = 0.04), and Ki-67 index (P < or = 0.001) were associated with survival, whereas survivin was not. In multivariate analysis, only TNM stage was an independent predictor. Although survivin and other apoptosis-related protein expressions fail to predict the clinical outcome, the present findings suggest that survivin is involved in tumor cell apoptosis and proliferation and may play a role in critical steps of cancer progression in NSCLC.     

Neonates as intrinsically worthy recipients of pain management in neonatal intensive care

One barrier to optimal pain management in the neonatal intensive care unit (NICU) is how the healthcare community perceives, and therefore manages, neonatal pain. In this paper, we emphasise that healthcare professionals not only have a professional obligation to care for neonates in the NICU, but that these patients are intrinsically worthy of care. We discuss the conditions that make neonates worthy recipients of pain management by highlighting how neonates are (1) vulnerable to pain and harm, and (2) completely dependent on others for pain management. We argue for a relational account of ethical decision-making in the NICU by demonstrating how an increase in vulnerability and dependence may be experienced by the healthcare community and the neonate’s family. Finally, an ethical framework for decisions around neonatal pain management is proposed, focussing on surrogate decision-making and the importance of compassionate action through both a reflective and an affective empathy. As empathy can be highly motivating against pain, we propose that, in addition to educational programs that raise awareness and knowledge of neonatal pain and pain management, healthcare professionals must cultivate empathy in a collective manner, where all members of the NICU team, including parents, are compassionate decision-makers.