Semilobar holoprosencephaly in seckel syndrome

Seckel syndrome is a rare genetic disorder with autosomal recessive inheritance. It is associated with many CNS anomalies along with involvement of other systems. We present a case of Seckel syndrome with semilobar holoprosencephaly as associated CNS anomaly, which to the best of our knowledge has not been reported earlier.     

Musculoskeletal events associated with the management of endocrine-responsive breast cancer

Musculoskeletal symptoms have been reported in patients treated with third generation aromatase inhibitors (AIs) and with blockers of hypothalamic–pituitary gonadal axis. AIs act by suppressing postmenopausal estrogen biosynthesis through inhibition of the enzyme aromatase, which is responsible for the conversion of androgens to estrogens in many tissues. Maximal estrogen and/or androgen deprivation is beneficial for cancer growth suppression but could be associated with side effects such as accelerated bone loss and osteoporotic fractures which are extensively reported. Musculoskeletal events, another group of adverse events, have been studied to a lesser extent and are usually commonly reported as arthralgia and myalgia. Furthermore, the pathogenesis and anatomical findings of musculoskeletal symptoms have not been adequately elucidated. In this communication, we review recent information related to musculoskeletal symptoms in breast cancer and speculate on possible explanations for musculoskeletal pain related to hormone deprivation. We outline treatment options for control of arthralgia and myalgia due to hormonal therapy. More knowledge about the etiology and management of musculoskeletal adverse effects breast cancer during endocrine therapy is needed because discontinuation of the treatment due to intolerant symptomatology may result in disruption of the treatment schedule.     

Underutilization of radiotherapy for lung cancer in New South Wales,Australia

BACKGROUND:

Lung cancer is the leading cause of cancer death in most developed countries. Radiotherapy is important in its treatment, with an estimated optimal utilization rate between 45% and 68% at initial diagnosis. The objective of this study was to describe radiotherapy practice for lung cancer in New South Wales (NSW), Australia.

METHODS:

Patients with lung cancer were identified prospectively from the NSW Central Cancer Registry (CCR) from November 1, 2001 to December 31, 2002. Questionnaires were mailed to diagnosing and treating clinicians to obtain detailed information on diagnosis, staging, referrals, and treatment. The authors describe referral for and receipt of radiotherapy treatment.

RESULTS:

Of 1812 patients with lung cancer patients who were identified, 943 patients (52%) were referred for radiotherapy, 846 patients (47%) received a radiotherapy questionnaire, and 727 patients (40%) received radiotherapy. Compared with optimal radiotherapy, there was less curative radiotherapy to the primary site (20% actual vs 50% optimal), and there was more palliative radiotherapy to metastatic sites (36% actual vs 11% optimal). The greatest shortfall in radiotherapy use was observed in patients who had limited stage small cell lung cancer (46% actual vs 94% optimal). The use of combined‐modality treatment for stage III nonsmall cell lung cancer and for limited stage small cell lung cancer was uncommon.

CONCLUSIONS:

There is underutilization of radiotherapy for lung cancer in NSW, especially in small cell lung cancer. The use of combined‐modality treatment for potentially curable lung cancers is suboptimal. These issues have to be addressed to improve survival and quality of life for patients with lung cancer. Cancer 2010. © 2009 American Cancer Society.     

hsa‐miR‐210 is a marker of tumor hypoxia and a prognostic factor in head and neck cancer

BACKGROUND:

Hypoxia is an important mechanism of treatment resistance in head and neck squamous cell carcinoma (HNSCC). MicroRNAs are short noncoding RNAs that regulate multiple mRNAs and are frequently dysregulated in cancer. The authors have investigated the role of 3 microRNAs, including the hypoxia‐induced hsa‐miR‐210, as potential markers of hypoxia or prognosis.

METHODS:

Three hypoxia‐related microRNAs, hsa‐miR‐210, hsa‐miR‐21, and hsa‐miR‐10b, were measured in 46 samples from patients with HNSCC. Expression levels were correlated with clinicopathological variables and other markers of hypoxia: a published 99‐gene hypoxia metagene, individual hypoxia‐related genes such as TWIST1, and immunohistochemical expression of hypoxia‐inducible factor 1 and its target gene carbonic anhydrase 9. We then performed survival analyses to investigate the prognostic significance of these microRNAs.

RESULTS:

Only the level of hsa‐miR‐210 was significantly correlated with other markers of hypoxia, including the 99‐gene hypoxia metagene (rho = 0.67, P < .001). We found no association between hsa‐miR‐210, hsa‐miR‐21, or hsa‐miR‐10b and clinicopathological variables such as tumor size, differentiation, and stage. However, high levels of hsa‐miR‐210 were associated with locoregional disease recurrence (P = .001) and short overall survival (P = .008). hsa‐miR‐21 and hsa‐miR‐10b had no prognostic significance.

CONCLUSIONS:

Expression of hsa‐miR‐210 in head and neck cancer correlates with other approaches for assessing hypoxia and is associated with prognosis. This warrants further study as a classification marker of patients for therapies involving modulation of hypoxia. Cancer 2010. © 2010 American Cancer Society.     

Role of GSTM1 and GSTT1 polymorphism: susceptibility to oral submucous fibrosis in the North Indian population

Molecular epidemiological studies have provided evidence that individual susceptibility to cancer is mediated by both genetic and environmental factors. Several allelic variants of polymorphic glutathione s-transferases (GSTs) show impaired enzyme activity and are suspected to increase the host's susceptibility to various cancers. To determine the association of GST variants with the risk of oral submucous fibrosis (OSF), the distribution of polymorphisms in GSTM1 and GSTT1 was studied in 90 OSF patients and 130 healthy controls. Genotypic analysis was performed by multiplex PCR. The relationship between the null genotypes and the risk of OSF was assessed by means of odds ratios (OR) with 95% confidence intervals (CI) calculated by logistic regression. The frequency of both the GSTM1 and GSTT1 null genotypes was higher in the OSF cases than in the controls. The prevalence of the GSTM1 null genotype in the OSF cases was 46.6% as compared to 29.2% in the controls (OR 2.12, 95% CI 1.2-3.9) and GSTT1 null was 24.4% in the OSF cases versus 10.7% in the controls (OR 2.68, 95% CI 1.22-5.96). There was evidence of an increased risk with the absence of both genotypes (7.5-fold; OR 7.5, 95% CI 2.3-24). Our findings suggest that the GSTM1 and GSTT1 null genotypes, separately or in combination, increase the risk of developing OSF in the North Indian population.     

Partial middle turbinectomy by nasotracheal intubation

Partial middle turbinate avulsion is a rare complication of nasotracheal intubation. Patients usually experience a brisk hemorrhage at the time of injury. Postoperatively, some patients develop a unilateral nasal obstruction, while others are asymptomatic. We present an unusual case in which a patient became symptomatic many years after the incident. We hope to raise awareness that a traumatic disruption of the turbinates secondary to nasotracheal intubation might lead to the development of an abnormal nasopharyngeal mass.     

Effect of fibre-reinforced composite as a post-obturation restorative material on fracture resistance of endodontically treated teeth: A systematic review

BackgroundFracture resistance of endodontically treated tooth is affected due to large cavity designs and access cavities and an appropriate material capable to resist fracture plays an important role. This review aims to evaluate the effect of fibre-reinforced composite (FRC) as a post-obturation material on fracture resistance of endodontically treated teeth.ObjectivesTo systematically gather and evaluate the fracture resistance of fibre-reinforced composite as a post-obturation restorative material in endodontically treated teeth.Data SourcesA systematic search was conducted using PubMed, Ebsco Host, Scopus, Google Scholar, Hinari and manual search library resources from 1st Jan 2000 to 30th November 2019 to identify appropriate studies.ResultA total of 157 articles were examined out of which 55 articles were selected after reading the title. After removing the duplicates, 27 articles were screened for abstract and 1 article was eliminated as it did not meet the eligibility criteria. A thorough reading of the full text of the remaining 26 selected articles was assessed for eligibility. Amongst these, 1 article was then excluded from the study as the full text was not accessible. Lastly, 25 articles were included in the study.ConclusionFRC as a core material increases fracture resistance of endodontically treated teeth but they do not have the fracture resistance similar to the intact tooth. Both polyethylene and short fibre-reinforced composites showed greater fracture resistance when compared to glass FRC and restoration without reinforcement. Also, the fracture resistance increases if restored with FRC along with retention slots and are placed on the occlusal third surfaces of cavities. Also, favourable fractures were most commonly seen and it usually occurred at the level of enamel and dentin and adhesive fractures were seen.     

Changing patterns of posterior segment trauma during the COVID-19 pandemic: A regional analysis from the Bodhya Eye Consortium

Purpose:To assess changes in the presentation patterns of posterior segment trauma during the COVID-19 pandemic from six tertiary eye care institutes of North and Central India.Methods:A multicenter, hospital-based, retrospective comparative analysis of patients presenting with posterior segment trauma was done during the COVID-19 (Group A) (March 25, 2020 - September 30, 2020) period and the pre-COVID-19 (Group B) (March 25, 2019 - September 30, 2019) period.Results:A total of 405 patients were diagnosed with posterior segment trauma (Group A: 206, Group B: 199). The time interval between onset of trauma and presentation was higher in Group A (16.59 ± 29.87 days) as compared to Group B (9.41 ± 19.19 days) (P = 0.004). A majority of patients in Group A had a history of prior consultation before presentation (P = 0.049). In Group A, 120 (58.2%) patients sustained ocular trauma at home as compared to 80 (40.2%) patients in Group B (P < 0.0001). Patients presenting with light perception were significantly more in Group A (43.7%) as compared to Group B (30.2%) (P = 0.004). In Group B, 37.6% patients had presenting visual acuity of counting finger or better as compared to 27.6% patients in Group A (P = 0.07). Patients in Group A had a significantly higher proportion of post-traumatic endophthalmitis with delayed presentation (P = 0.011) and retinal detachment (P = 0.041). Patients undergoing surgery for foreign-body removal were significantly fewer in Group A (P = 0.05).Conclusion:Although the number of patients presenting with posterior segment trauma was comparable in Groups A and B, a greater number of patients sustained home injuries during the COVID-19 pandemic. A majority of these patients had delayed presentation with poor presenting visual acuity and a higher tendency of retinal detachment.