Face shape of unaffected parents with cleft affected offspring: combining three‐dimensional surface imaging and geometric morphometrics

Authors – Weinberg SM, Naidoo SD, Bardi KM, Brandon CA, Neiswanger K, Resick JM, Martin RA, Marazita ML Objective – Various lines of evidence suggest that face shape may be a predisposing factor for non‐syndromic cleft lip with or without cleft palate (CL/P). In the present study, 3D surface imaging and statistical shape analysis were used to evaluate face shape differences between the unaffected (non‐cleft) parents of individuals with CL / P and unrelated controls. Methods – Sixteen facial landmarks were collected from 3D captures of 80 unaffected parents and 80 matched controls. Prior to analysis, each unaffected parent was assigned to a subgroup on the basis of prior family history (positive or negative). A geometric morphometric approach was utilized to scale and superimpose the landmark coordinate data (Procrustes analysis), test for omnibus group differences in face shape, and uncover specific modes of shape variation capable of discriminating unaffected parents from controls. Results – Significant disparity in face shape was observed between unaffected parents and controls (p < 0.01). Notably, these changes were specific to parents with a positive family history of CL / P. Shape changes associated with CL / P predisposition included marked flattening of the facial profile (midface retrusion), reduced upper facial height, increased lower facial height, and excess interorbital width. Additionally, a sex‐specific pattern of parent‐control difference was evident in the transverse dimensions of the nasolabial complex. Conclusions – The faces of unaffected parents from multiplex cleft families displayed meaningful shape differences compared with the general population. Quantitative assessment of the facial phenotype in cleft families may enhance efforts to discover the root causes of CL /P.     

Association analysis of ADPRT1, AKR1B1, RAGE,GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes

Background  

To determine association of nine single nucleotide polymorphisms (SNPs) in ADP ribosyltransferase-1 (ADPRT1), aldo-keto reductase family 1 member B1 (AKR1B1), receptor for advanced glycation end-products (RAGE), glutamine:fructose-6-phosphate amidotransferase-2 (GFPT2), and plasminogen activator inhibitor-1 (PAI-1) genes with chronic renal insufficiency (CRI) among Asian Indians with type 2 diabetes; and to identify epistatic interactionss between genes from the present study and those from renin-angiotensin-aldosterone system (RAAS), and chemokine-cytokine, dopaminergic and oxidative stress pathways (previously investigated using the same sample set).     

Prevention and management of hepatitis B virus reactivation in patients with hematological malignancies treated with anticancer therapy

Hepatitis due to hepatitis B virus(HBV) reactivation can be severe and potentially fatal, but is preventable. HBV reactivation is most commonly reported in patients receiving cancer chemotherapy, especially rituximabcontaining therapy for hematological malignancies and those receiving stem cell transplantation. All patients with hematological malignancies receiving anticancer therapy should be screened for active or resolved HBV infection by blood tests for hepatitis B surface antigen(HBs Ag) and antibody to hepatitis B core antigen(antiHBc). Patients found to be positive for HBs Ag should be given prophylactic antiviral therapy to prevent HBV reactivation. For patients with resolved HBV infection, no standard strategy has yet been established to prevent HBV reactivation. There are usually two options. One is pre-emptive therapy guided by serial HBV DNA monitoring, whereby antiviral therapy is given as soon as HBV DNA becomes detectable. However, there is little evidence regarding the optimal interval and period of monitoring. An alternative approach is prophylactic antiviral therapy, especially for patients receiving highrisk therapy such as rituximab, newer generation of anti-CD20 monoclonal antibody, obinutuzumab or hematopoietic stem cell transplantation. This strategy may effectively prevent HBV reactivation and avoid the inconvenience of repeated HBV DNA monitoring. Entecavir or tenofovir are preferred over lamivudine as prophylactic therapy. Although there is no well-defined guideline on the optimal duration of prophylactic therapy, there is growing evidence to recommend continuing prophylactic antiviral therapy for at least 12 mo after cessation of chemotherapy, and even longer for those who receive rituximab or who had high serum HBV DNA levels before the start of immunosuppressive therapy. Many novel agents have recently become available for the treatment of hematological malignancies, and these agents may be associated with HBV reactivation. Although there is currently limited evidence to guide the optimal preventive measures, we recommend antiviral prophylaxis in HBs Ag-positive patients receiving novel treatments, especially the Bruton tyrosine kinase inhibitors and the phosphatidylinositol 3-kinase inhibitors, which are B-cell receptor signaling modulators and reduce proliferation of malignant B-cells. Further studies are needed to clarify the risk of HBV reactivation with these agents and the best prophylactic strategy in the era of targeted therapy for hematological malignancies.     

Initial evaluation of a continuous speech recognition program for radiology

The aims of this work were to measure the accuracy of one continuous speech recognition product and dependence on the speaker's gender and status as a native or nonnative English speaker, and evaluate the product's potential for routine use in transcribing radiology reports. IBM MedSpeak/Radiology software, version 1.1 was evaluated by 6 speakers. Two were nonnative English speakers, and 3 were men. Each speaker dictated a set of 12 reports. The reports included neurologic and body imaging examinations performed with 6 different modalities. The dictated and original report texts were compared, and error rates for overall, significant, and subtle significant errors were computed. Error rate dependence on modality, native English speaker status, and gender were evaluated by performing ttests. The overall error rate was 10.3 +/- 3.3%. No difference in accuracy between men and women was found; however, significant differences were seen for overall and significant errors when comparing native and nonnative English speakers (P = .009 and P = .008, respectively). The speech recognition software is approximately 90% accurate, and while practical implementation issues (rather than accuracy) currently limit routine use of this product throughout a radiology practice, application in niche areas such as the emergency room currently is being pursued. This methodology provides a convenient way to compare the initial accuracy of different speech recognition products, and changes in accuracy over time, in a detailed and sensitive manner.     

Limited posterior thoracotomy for the correction of intra cardiac anomalies–current perspectives

Background Though the use of median stermotomy has been fairly standardized for the approach to the heart and great vessels, since the advent of cosmetically appealing incisions, thoracotomy has come to be a justifiable alternative incision. This paper presents our experience with this approach and the advantages over the conventional approach as well as over other incisions for the correction of intra-cardiac anomalies. Methods 93 patients underwent open cardiac procedures using the posterior thoracotomy approach since June 1997 to December 2000. There were 69 patients with ostium secundum atrial septal defects and 12 patients with sinus venous defects. Other anomalies included perimembranous ventricular septal defects in 3 patients, partial atrioventricular septal defects in 3 patients and transitional atrioventricular septal defects in 2 patients. Besides these, one patient each underwent atrial septectomy with right modified Blaloc—Taussing shunt and correction of hemianomalous pulmonary venous connection with intact atrial septum using this approach. The median age of the patients was 8 years with a range of 10 months to 41 years. 10 patients were males. Results The median operation time (skin to skin) was 236 minutes. Median bypass times and aortic cross clamp times were 63 minutes and 31.5 minutes respectively. The median ICU stay was 25.2 hours. There were no significant immediate post operative complications requiring intervention in any patient. The mean chest drainage was 80 ml per 24 hours. One patient had a superficial wound dehiscence which healed with daily dressings One patient had atelectasis of the right upper lobe which recovered with chest physiotherapy. All patients are on regular follow up to assess the status of their scars. One patients developed a mass on the right atrial free wall following closure of atrial septal defect one year earlier and the underwent reoperation for removal of the mass. Patients on follow up were interrogated and all were satisfied with the cosmesis of their scars. None of the patients had any physical disability due to their scars. Conclusions The limited posterior thoracotomy incision offers a cosmetically attractive approach to the heart in selected patients. The approach is easy and the techniques reproducible. The technique carries with it no additional risk and has the advantage of not interfering with future development of the breast in young pre pubertal girls.     

早产儿的发展性照顾[日]

过去10至15年间,关于对早产儿必须提供适宜的环境的论点,已被众多的研究者反复论证.通过减少有害的刺激如光、声、人员往来,并且给予适当的体位和护理,早产儿护理的效果显著好转.