Genome-wide linkage scan for prostate cancer susceptibility in Finland: evidence for a novel locus on 2q37.3 and confirmation of signal on 17q21-q22

Genome-wide linkage studies have been used to localize rare and highly penetrant prostate cancer (PRCA) susceptibility genes. Linkage studies performed in different ethnic backgrounds and populations have been somewhat disparate, resulting in multiple, often irreproducible signals because of genetic heterogeneity and high sporadic background of the disease. Our first genome-wide linkage study and subsequent fine-mapping study of Finnish hereditary prostate cancer (HPC) families gave evidence of linkage to one region. Here, we conducted subsequent scans with microsatellites and SNPs in a total of 69 Finnish HPC families. GENEHUNTER-PLUS was used for parametric and nonparametric analyses. Our microsatellite genome-wide linkage study provided evidence of linkage to 17q12-q23, with a heterogeneity LOD (HLOD) score of 3.14 in a total of 54 of the 69 families. Genome-wide SNP analysis of 59 of the 69 families gave a highest HLOD score of 3.40 at 2q37.3 under a dominant high penetrance model. Analyzing all 69 families by combining microsatellite and SNP maps also yielded HLOD scores of > 3.3 in two regions (2q37.3 and 17q12-q21.3). These significant linkage peaks on chromosome 2 and 17 confirm previous linkage evidence of a locus on 17q from other populations and provide a basis for continued research into genetic factors involved in PRCA. Fine-mapping analysis of these regions is ongoing and candidate genes at linked loci are currently under analysis.     

Effect of iron deficiency anemia on audiovisual reaction time in adolescent girls

Adolescent girls are at high risk of developing iron deficiency because of increased iron demands during puberty, menstrual losses, and limited dietary iron intake. This study was carried out to demonstrate the effects of Iron Deficiency Anemia on Audiovisual reaction time in adolescent girls. Adolescent girls between 17-19 years of age with similar socioeconomic background were recruited from college of nursing for the study. They were all screened and categorized into two groups depending on their haemoglobin status. Students having Hb > 12 gm/dl formed the control group i.e. Group I (n=30). All students having Hb < 12 gm/dl and S. Ferritin < 12 microg/dl formed group II i.e. iron deficient anemic (IDA) group. The following haematological parameters were studied Hemoglobin (Hb), MCV, MCH, MCHC (using Sysmex kx-21 Autoanalyser), Serum.Iron, TIBC (Spectrophotometry), Serum.Ferritin (ELISA). Auditory and Visual reaction time were measured by reaction time instrument supplied by Medicaid system, chandigarh. The mean Hb levels in Group I was 12.93 +/- 0.86 and Group II was 10.08 +/- 0.51 (P<0.001). The MCV, MCH, MCHC, S. Iron, S. Ferritin was also significantly less in group II as compared to group I (P<0.001). TIBC was significantly more in group II as compared to group I (P<0.001). Results showed that both ART and VRT were significantly increased (P<0.001) in iron deficient adolescents suggesting a deterioration in sensorimotor performance in anemics.     

Peer-assisted Learning: Intensity-modulated Radiotherapy Transition in Developing Countries

Intensity-modulated radiotherapy (IMRT) is not widely used in developing countries due to technical challenges and a lack of expertise and resources. We outline head and neck cancer IMRT implementation challenges and highlight how improvised solutions allowed successful IMRT transition in Jordan. This article showcases a ‘peer-assisted learning’ model, promoting IMRT transition in other developing countries. Unlike the ‘top-down’ approach, this model is uncommonly addressed in oncology journals. Developing countries could benefit from this article to enhance the adoption of modern radiotherapy technology.     

Is Pterygopalatine Fossa Injection with Adrenaline an Effective Technique for Better Surgical Field in Fess?

Functional endoscopic sinus surgery (FESS) is one of most common surgeries in otorhinolaryngology practice. It is done in the narrow confines of the nasal cavity. Bleeding into the surgical field is a major problem faced by endoscopic surgeons. To assess the effectiveness of pterygopalatine fossa infiltration with lignocaine and adrenaline in controlling surgical field bleeding during endoscopic sinus surgery. A randomized blinded study was done among 68 patients who underwent FESS. Infiltration with 2% lignocaine with 1:80,000 adrenaline was given only on one side and the surgeon was blinded as to which side was infiltrated and he was asked to assess the surgical field using a standard scale. There was statistical significant improvement in surgical field on the infiltrated side (p = 0.001) with almost 25–30% improvement in surgical field on the infiltrated side. The surgical field bleeding also varied with the blood pressure with a positive correlation. There were no complications associated with the procedure. Pterygopalatine fossa infiltration with lignocaine and adrenaline is an effective technique in reducing surgical field bleeding during FESS. It can be combined with nasal decongestion or hypotensive anaesthesia for an optimum surgical field.     

Goblet cell carcinoids of the appendix: Tumor biology,mutations and management strategies

Malignant neoplasms of the appendix are rare and represent less than 1% of gastrointestinal cancers. Goblet cell carcinoids (GCC) tumors are a distinctive group of heterogeneous appendiceal neoplasm that exhibit unique clinical and pathologic features. This review focuses on the current diagnostic procedures, pathogenesis, possible signaling mechanisms and treatment options for GCC. Perspectives for future research are discussed. The tumor likely arises from pluripotent intestinal epithelial crypt base stem cells. Previous findings of Notch signaling as a tumor suppressor in Neuroendocrine tumors may have a similar role in this tumor too. Loss of Notch signaling may be the driver mutation with other successive downstream mutations likely favors them into progressing and behavior similar to poorly differentiated adenocarcinoma with minimal neuroendocrine differentiation. A multidisciplinary approach is suggested for optimal outcomes. Surgery remains the main treatment modality. Simple appendectomy may be sufficient in early stages while right hemicolectomy is recommended for advanced tumors. Cytoreductive surgery with heated intraperitoneal chemotherapy may improve survival in a select few with metastatic peritoneal disease. These tumors have an unpredictable behavior even in early stages and local recurrence and delayed metastases may be seen. Lifelong surveillance is warranted.     

Right ventricular outflow tract stenting in tetrology of fallot with restrictive ventricular septal defect

A 6-month-old child with worsening cyanosis from birth, hypercyanotic spells and failure to thrive, was admitted with severe desaturation. Systemic saturation was < 56%, and echocardiography revealed severe infundibular pulmonary stenosis with normal pulmonary valve and a restrictive ventricular septal defect. The child underwent percutaneous stenting of the right ventricular outflow tract (RVOT), with good reduction in gradient and clinical stabilization. The child is being followed up for elective intracardiac repair.     

Neonatal sepsis caused by Salmonella enterica serovar Weltevreden

Salmonella enterica serovar Weltevreden is an uncommon cause of gastroenteritis occurring worldwide. For the first time, we report 2 cases of neonatal sepsis caused by S. Weltevreden from Hubli, India. In the first case, the neonate had features of septicemia and S. Weltevreden was isolated from a blood culture. The other neonate had omplalitis and clinical features of septicemia. S. enterica serovar Weltevreden was isolated from the umbilical swab culture of this neonate. Even though extensive investigations were conducted, the source of infection could not be identified. Both neonates recovered completely after appropriate antibiotic and supportive therapy.