Riga-Fede disease: report of a case and review

Self-mutilation of tongue is a type of self-injurious behavior. Ulcers of the lingual frenum in neonates with natal lower incisors are referred to as Riga-Fede disease. In this paper a case of Riga-Fede disease in a ten-month infant male with lower central incisors is reported. The ulcer resolved after the sharp incisal edges were smoothened and topical triameinolone was applied. As this lesion may be confused or associated with other serious disorders, a review of medical and dental literature was included.     

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco

Five disease-causing genes, including the IL12RB1 gene that encodes the beta 1 chain of the receptor for interleukin (IL)-12 (IL-12R beta 1), are known to be associated with the syndrome of Mendelian susceptibility to mycobacterial diseases. Some IL-12R beta 1-deficient patients present with tuberculosis as the only clinical phenotype. A comprehensive genetic study of IL12RB1 was conducted among 101 Moroccan families, including 157 offspring (age, >15 years) who had culture-positive pulmonary tuberculosis (PTB). The promoter, exons, and flanking intron regions of IL12RB1 in 40 randomly selected patients with PTB were entirely sequenced, leading to the detection of 19 variants (including 10 novel mutations). Blood cells obtained from individuals who were homozygous for any of the 13 most common variants responded to IL-12, indicating that these polymorphisms were not loss-of-function mutations. By use of a family-based study, 2 promoter polymorphisms that were in strong linkage disequilibrium were found to be associated with PTB, especially -2C-->T (odds ratio for CT or TT vs. CC, 2.69 [95% confidence interval, 1.19-6.09]). This result suggests that IL12RB1 polymorphisms might influence the risk of development of PTB in adults.     

Génétique humaine de la tuberculose

Tuberculosis (TB), caused by Mycobacterium tuberculosis, remains a major public health problem worldwide, resulting in 8.7 million new cases and 1.4 million deaths each year. One third of the world's population is exposed to M. tuberculosis and, after exposure, most, but not all, individuals become infected. Among infected subjects, only a minority (∼10%) will eventually develop clinical disease, which is typically either a primary, often extra-pulmonary, TB in children, or a reactivation, pulmonary TB in adults. Considerable genetic epidemiological evidence has accumulated to support a major role for human genetic factors in the development of TB. Numerous association studies with various candidate genes have been conducted in pulmonary TB, with very few consistent results. Recent genome-wide association studies revealed only a modest role for two inter-genic polymorphisms. However, a first major locus for pulmonary TB was mapped to chromosome 8q12-q13 in a Moroccan population after a genome-wide linkage screen. Using a similar strategy, two other major loci controlling TB infection were recently identified. While the precise identification of these major genes is ongoing, the other fascinating observation of these last years was the demonstration that TB can also reflect a Mendelian predisposition. Following the findings obtained in the syndrome of Mendelian susceptibility to mycobacterial diseases, several children with complete IL-12Rβ1 deficiency, were found to have severe TB as their sole phenotype. Overall, these recent findings provide the proof of concept that the human genetics of TB involves a continuous spectrum from Mendelian to complex predisposition with intermediate major gene involvement. The understanding of the molecular genetic basis of TB will have fundamental immunological and medical implications, in particular for the development of new vaccines and treatments.     

The impact of the TIM gene family on tumor immunity and i mmunosuppression

Tumor immunoevasion is an advanced phase of cancer immunosurveillance in which tumor cells acquire the ability to circumvent host immune systems and exploit protumorigenic inflammation. T-cell immunoglobulin mucin （TIM） gene family members have emerged as critical checkpoint proteins that regulate multiple immune response phases and maintain immune homeostasis. Accumulating evidence demonstrates that tumor cells exploit TIM gene family members to evade immunosurveillance, whereas TIM gene family members facilitate the prevention of inflammation-related tumor progression. Thus, a comprehensive analysis to clarify the relative contributions of TIM gene family members in tumor progression may elucidate immunosurveillance systems in cancer patients.     

Accuracy of population-specific Demirjian curves in the estimation of dental age of Saudi children

International Journal of Paediatric Dentistry 2012; 22: 125–131 Background. The Demirjian eight‐stage method is one of the principal methods used to quantify the degree of maturity from age 3 to 17. Aim. The objective of this study was to compare the accuracy of dental age of different population‐specific curves, derived using the Demirjian method, to the chronological age of Saudi children aged between 4 and 14. Design. Panoramic radiographic records of 176 children (91 boys and 85 girls), without any history of systemic disease, were assessed using the Demirjian method, and the dental age was calculated using curves designed for French‐Canadian, Belgian, Kuwaiti, and Saudi children. The difference from chronological age (DA–CA) for each curve was then statistically compared using ANOVA, and each of the curves was compared to the chronological age using multinomial regression modelling. Results. The results suggest that although population‐specific curves are more accurate in the prediction of age, a considerable variation within each population still exists. Conclusions. The Demirjian method offers great scope in fields that require the study of the pattern of growth rather than the accuracy of age estimation.     

Is high-dose cholecalciferol justified in children with chronic kidney disease who failed low-dose maintenance therapy?

Background

We aimed to investigate the effect of single, high-dose intramuscular cholecalciferol on vitamin D3 and intact parathyroid hormone (iPTH) levels in children with chronic kidney disease (CKD).

Methods

Between January 2012 and June 2012, we conducted a prospective, uncontrolled study at the Pediatric Nephrology Unit of King Abdulaziz University Hospital, Jeddah, to investigate the effect of single, high-dose intramuscular vitamin D3 on 25(OH)D3 and iPTH levels in vitamin D insufficient/deficient children with CKD. Serum vitamin D3, iPTH, calcium, phosphate, alkaline phosphatase (ALP), and creatinine levels were measured before intramuscular vitamin D3 (300,000 IU) administration, and these were subsequently repeated at 1 and 3 months after treatment. Statistical analysis was performed with the Statistical Package for the Social Sciences (SPSS Inc., Chicago, IL, USA).

Results

Nineteen children fulfilled the criteria. At 3 months after treatment, vitamin D3 levels were significantly higher than at baseline (p?<?0.001) but lower than the levels at 1 month. iPTH levels decreased significantly at 3 months (p?=?0.01); however, the drop in iPTH levels was not significant at 1 month (p?=?0.447). There were no changes in calcium, phosphate, ALP, or creatinine levels after treatment.

Conclusions

Single-dose intramuscular vitamin D3 (300,000 IU) resulted in significant improvement of vitamin D3 and iPTH levels in children with CKD.     

Palliative endoscopic treatment of malignant esophageal stenosis using a H?ring prosthesis

The aim of this work was to analyze the outcome of 78 cases of esophageal cancer for which the endoscopic placement of a H?ring prosthesis was chosen as a palliative method of treatment. The average length of hospitalization was 10 days and the average survival time was 90.8 days. The postinsertion mortality rate was 6% and there were 44 complications. The best indications are carcinoma of the lower two thirds of the esophagus, neoplastic mediastinitis and esophageal fistulae.     

Induction of labour: how close to the evidence-based guidelines are we?

The aim of this study was to assess the indications and methods used for induction of labour (IOL), to determine whether induction was performed as per local guidelines, to ensure the Royal College of Obstetricians and Gynaecologists/National Institute for Clinical Excellence (RCOG/NICE) guidelines were adhered to within the department and finally, identify areas for improvement in women's care. We retrospectively analysed 95 cases of IOL managed between 1 May and 30 June 2003 at City Hospital, Birmingham, UK. A total of 95 out of 569 (16.7%) deliveries were induced over the period of study. Indications for IOL and their documentation in the case-notes showed 60 - 70% compliance with guidelines. Pre-IOL cervical ripening with prostaglandin E2 (PGE2) was performed in 42 cases out of 65, showing 64.6% compliance with guidelines. All cases who had pre-IOL cervical ripening with PGE2 were closely monitored during ripening, showing 100% compliance. A total of 79 cases out of 95 (83.2%) achieved vaginal delivery. However, eight of those (8.4%) required instrumental delivery. More than 50% of women delivered within 12 h of starting IOL. Five cases (5.3%) had failed IOL. The overall caesarean section (CS) rate was 16.8%. Maternal and fetal complications were relatively uncommon during the study period. Uterine hyperstimulation was reported in only one case (1.1%) in this study. Full compliance with evidence-based guidelines was achieved in some aspects of this audit, while other aspects showed no or little compliance. IOL is an effective and safe intervention in modern obstetric practice. Regardless of cervical status and parity, vaginal delivery can be anticipated in the majority of women undergoing labour induction.