Long-term results of four horizontal rectus muscle recession in nystagmus treatment

Purpose: To report the long-term results of four horizontal rectus muscle recessions that were performed for infantile nystagmus syndrome treatment.

Methods: In this case series, patients with infantile nystagmus syndrome who had four horizontal muscle recessions previously were recruited and ophthalmological examination and electronystagmography recordings were performed. Objectively, amplitude and frequency of nystagmus were measured from the recordings and the intensity was calculated. Visual acuity, stereopsis, and alignment were evaluated and compared with the preoperative and postoperative values.

Results: The records of the 12 patients who had four horizontal rectus muscle recession surgery were evaluated and six patients (5 male, 1 female) who had regular follow-ups were included in this study. Mean follow-up was 14.17?±?0.41 years (minimum 14 years, maximum 15 years) and mean age of patients at the last visit was 22 years (20-28 years). On subjective evaluation, two-thirds (4/6) of the patients were satisfied with the surgical results and had the impression that after surgery, nystagmus decreased in intensity and head posture improved. On objective evaluation, visual acuity was found to be the same, however, stereopsis improved (preoperatively and postoperatively median stereopsis was 600?sec arc vs 200?sec arc final). The decrease in nystagmus amplitude and frequency was still maintained.

Conclusions: Nystagmus surgery on four horizontal rectus muscles has positive effects on binocular function and nystagmus parameters in the long-term follow-up. As we could not treat the primary pathology, the visual acuity was about the same but the decrease in nystagmus amplitude and frequency was still maintained with better stereopsis, and patient satisfaction.     

Blastic Plasmacytoid Dendritic Cell Neoplasm: Single Center Experience on a Rare Hematological Malignancy

PurposeBlastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and poor prognostic hematological malignancy. There is still no standard treatment established for BPDCN patients. We aim to summarize the main clinical, biological features and treatment of 9 BPDCN patients.MethodsNine patients with BPDCN who had been diagnosed between July 2008 and December 2018 in Ankara University School of Medicine, were retrospectively evaluated.ResultsAll patients (n = 9) were male, median age was 64 (21–80). Five patients (55.6%) had bone marrow infiltration, 5 patients (55.6%) cutaneous lesions, 6 patients (66.7%) lymph node involvement, 2 patients (22.2%) central nervous system involvement and 2 patients (22.2%) spleen involvement at time of diagnosis. Complex karyotype was observed in 2 patients. CHOP was given to 5 patients (55.6%), hyper-CVAD to 2 patients (22.2%), fludarabine, cyclophosphamide and mitoxantrone to 1 patient (11.1%) and cyclophosphamide, etoposide, methylprednisolone to 1 patient (11.1%) as first line chemotherapy. Four patients (44.4%) underwent allogeneic hematopoietic stem cell transplantation (AHSCT) in complete remission (CR) 1. Venetoclax was given to a transplant ineligible patient who had skin and lymph node involvement, with the off-label use. The median follow-up time was 15.9 months (3–48.6 months). Estimated median overall survival was 15.9 + 1.6 (95% CI 12.7–19.1) months.ConclusionIntensive induction therapies followed by AHSCT in CR seems to be best approaches for patients with BPDCN. Thus, more effective treatment strategies particularly targeted therapies should be warranted to improve the survival of patients with this rare disease.     

Humoral immune response to MUC5AC in patients with colorectal polyps and colorectal carcinoma

Background  

MUC5AC is a secreted mucin aberrantly expressed by colorectal polyps and carcinoma. It has been hypothesized that aberrant expression of MUC5AC in colorectal carcinoma tissues increased the overall survival of patients with colorectal carcinoma. The present study investigates the incidence of naturally occurring MUC5AC antibodies in the sera of normal individuals, patients with colonic polyps and patients with advanced colorectal carcinoma. A second aim was to determine the relationship of MUC5AC antibody with the prognosis of colorectal carcinoma.     

Computer-aided diagnosis of the airways: beyond nodule detection

Although to date, the major impetus for the development of computer-assisted diagnosis (CAD) has been the detection of pulmonary nodules, CAD should properly be viewed as a potential tool for assisting radiologic interpretation of the entire gamut of chest diseases, including not just enhanced detection of disease but also characterization and quantification, ideally leading to improved patient management. The use of CAD to improve visualization of the airways using advanced computer techniques, including sophisticated methods for obtaining 3-dimensional segmentation of the central airways and, in particular, the development of virtual bronchoscopy has been recently studied. In this paper, the authors review the development of a specific series of CAD applications enabling automated identification and characterization of chronically inflamed airways. The advantages to the use of computer methodologies to quantify peripheral airway disease include reproducible visualization methods to display the location, severity, and extent of airway dilatation, bronchial wall thickening, and the presence of mucoid impacted airways. Currently, a number of semiquantitative global scoring systems have been proposed to assess disease extent and severity in patients with bronchiectasis. Unfortunately, with the exception of patients with cystic fibrosis, these are rarely if ever employed, largely owing to the considerable inconvenience of measuring individual airway dimensions and computing a global score. It is apparent that for this specific purpose, CAD may be ideally suited. Automated staging allows for more complete assessment of the entire bronchial tree while providing improved standardization and eliminating an otherwise tedious and time-consuming task.     

Novel Growth Hormone-Releasing Hormone Receptor Gene Mutations in Turkish Children with Isolated Growth Hormone Deficiency

Objective: Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defects on GHRHR causing IGHD in the Turkish population have not yet been reported. To identify mutations on GHRHR gene in a population of Turkish children with IGHD.Methods: Ninety-six Turkish children with IGHD were included in this study. Exon1-13 and exon/intron boundaries of GHRHR were amplified by suitable primers. The polymerase chain reaction products for GHRHR gene were sequenced with primers.Results: We analyzed the GHRHR gene for mutations in ninety-six patients with IGHD based on sequence results. We identified novel p.K264E, p.S317T, p.S330L, p.G369V, p.T257A and C base insertion on position 380 (c.380inserC) mutations. In 5 of the patients, the mutation was homozygote and in 1-heterozygote (p.S317T).Conclusion: Six new missense mutations and one first case of insertion mutations for the GHRHR gene are reported.     

Photochemically Mediated Atom Transfer Radical Polymerization Using Polymeric Semiconductor Mesoporous Graphitic Carbon Nitride

Photochemically mediated atom transfer radical polymerization of vinyl monomers is successfully activated by ecofriendly heterogeneous mesoporous graphitic carbon nitride (mpg‐C₃N₄). This method pertains to the use of mpg‐C₃N₄ as photoactivator for reduction of initially loaded copper(II) species, thus promoting the in situ formation of the copper(I) species. The controlled nature of the polymerizations in both natural sunlight and UV‐light irradiation at ambient temperature is confirmed by the good agreement of the kinetics of the ­polymerization with theoretical values. The light on–off experiments ­demonstrate that polymerizations are clearly initiated and moderated by either UV light or sunlight.

     

Is there a role for surgery in the management of isolated secundum atrial septal defect in adults?

Isolated atrial septal defect (ASD) is the most common form of congenital heart abnormalities in adults and approximately 80% are located in the region of the fossa ovalis (ostium secundum ASD).1 Indications for closure are in cases where the ratio of pulmonary-to-systemic flow (Qp/Qs) is higher than 1.5, without significant elevation of pulmonary vascular resistance.Surgical closure of ASDs has been performed for over 60 years and techniques have steadily improved, using smaller incisions and minimally invasive techniques. On the other hand, in the last 20 years, various transcatheter ASD closure techniques and devices have been developed, among which, percutaneous treatment with a septal occluder device is the most popular.2,3Despite increasing use of occluder devices and the fact that studies have been published internationally pointing out some of the advantages and disadvantages compared with surgery in adults, no formal comparison of efficacy, morbidity and complications has been published.2-4 We present a retrospective comparison of short-term (three months) results for transcatheter and surgical closure of 163 ostium secundum ASD patients in a university hospital.