Atypical Bennett’s fracture-dislocation

We herein report an unusual case of a fracture-dislocation of the thumb metacarpal base. The injury consisted of features typical of Bennett’s fracture-dislocation of the thumb trapeziometacarpal joint, with additional rotation of the proximal fragment, signifying a greater ligamentous injury. Radiographic features of this injury are discussed together with its pathomechanics. Surgical management was undertaken due to the inherent instability of this injury.     

Perceptions of psychiatry residents and non-residents on training needs and care related to patients with intellectual disability and mental health problems: A study from Singapore

Background: People with intellectual disability (ID) have higher risk of mental morbidity and specialised training may be required in their management. We explored the training needs and knowledge as well as perceptions of care of such patients among residents and non-residents working in psychiatry.

Method: The study was conducted as an anonymous survey. Questionnaires were sent to all residents and non-residents at a large psychiatric hospital in Singapore.

Results: Forty-eight out of the 76 questionnaires sent out were returned. All participants responded that postgraduate training was required in the area of ID and mental health and according to the majority, available training was inadequate. Over 90% believed that people with ID were vulnerable to exploitation and they should be under a specialist team.

Conclusion: Efforts should be made to include specialist training in psychiatry of ID in the Singapore psychiatry curriculum to enhance the knowledge and expertise of psychiatrists in this field.     

Prognostic importance of DNA repair gene polymorphisms of <Emphasis Type="Italic">XRCC1</Emphasis> Arg399Gln and <Emphasis Type="Italic">XPD</Emphasis> Lys751Gln in lung cancer patients from India

Purpose Inter individual variation in lung cancer susceptibility may be modulated in part through genetic polymorphisms in the DNA repair genes, especially the genes involved in the Base Excision Repair (BER) and nucleotide excision repair (NER) pathway. Two of the genetic polymorphisms, XRCC1Arg399Gln and XPD Lys751Gln have been extensively studied in the association with lung cancer risk, although published studies have been inconclusive. Methods In order to verify the role of the common variant alleles in the XPD gene, we have genotyped 211 lung cancer patients and 211 healthy controls using PCR-RFLP assays in a hospital based, case-control study in an Indian population. Logistic regression models were fit to examine the relationship between the log odds of lung cancer and each covariate. Overall Survival in relation to various genotypes and clinicopathological factors were analyzed using Kaplan Meier estimates and hazard ratios were calculated using Cox Regression analysis. Results The carriers of XRCC1 399 AA genotypes were at higher risk of lung cancer (OR = 2.1, 95% CI:1.224–3.669, P = 0.007) than carriers of GG genotype. Subjects carrying 751 AC genotype were at an increased risk of carcinoma of the lung (OR = 1.8; 95% CI:1.233–2.807, P = 0.003) than subjects with AA genotypes. Compared to the XRCC1 399 GG/ XPD 751 AA reference genotype, the combined variants, XRCC1 399 GG/ XPD 751 AC+CC (OR = 1.9, 95% CI: 1.037–3.481), P = 0.03), XRCC1 399 GA+AA/ XPD 751 AA (OR = 1.7, 95% CI: 1.020–2.833, P = 0.04), XRCC1 399 GA+AA/XPD 751 AC+CC (OR = 2.7, 95% CI: 1.582–4.864, P = 0.01), had significantly higher odds ratios. Increasing numbers of either XPD or XRCC1 variant alleles were associated with shorter overall survival, the risk being significant for the XRCC1 gene polymorphism (P = 0.01 by log-rank test). The hazard of dying was significant for the XRCC1 399 AA genotype (HR = 3.04, 95%CI: 1.393–6.670, P = 0.005). Higher tumour stage also came out as significant predictors of patient death. Conclusions These findings suggest that genetic polymorphisms in the DNA repair genes may modulate overall lung cancer susceptibility and that pathological stage and XRCC1 Arg399Gln independently predicted overall survival among Indian lung cancer patients.     

Disseminated Fusarium oxysporum neurospinal infection

We report a case of disseminated meningospondylodiscitis in an elderly diabetic patient caused by Fusarium oxysporum. As the clinical presentation was nonspecific, the diagnosis of the condition could only be arrived at after laboratory and imaging studies. The diagnosis of the condition requires a high index of suspicion. Patient underwent thorough surgical debridement along with a short course of variconazole and remained asymptomatic after 36 months of diagnosis. Fusarium is a large genus of filamentous fungi widely distributed in soil and in association with plants. It is known to cause local infections (nail, cornea) in healthy humans and disseminated infection only in the immunocompromised.     

ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes

Genetic susceptibility modulates the impact of obesity on risk for type 2 diabetes. The present study evaluates the role of ENPP1 K121Q polymorphism in prediction of type 2 diabetes in three populations that differ in susceptibility to diabetes and environmental exposure. The three cohorts included 679 nonmigrant South Asians living in Chennai, India (223 with type 2 diabetes); 1,083 migrant South Asians living in Dallas, Texas (121 with type 2 diabetes); and 858 nonmigrant Caucasians living in Dallas, Texas (141 with type 2 diabetes). Patients with type 2 diabetes were included in these cohorts if they had diabetes onset before the age of 60 years. The prevalence of subjects carrying the polymorphic ENPP1 121Q allele was 25% in the nondiabetic group and 34% in the diabetic group of South Asians living in Chennai (P = 0.01). The prevalence in the nondiabetic and diabetic groups were 33 and 45% (P = 0.01) for the South Asians living in Dallas and 26 and 39% (P = 0.003) for the Caucasians. Although further replication studies are necessary to test the validity of the described genotype-phenotype relationship, our study supports the hypothesis that ENPP1 121Q predicts genetic susceptibility to type 2 diabetes in both South Asians and Caucasians.     

Bilateral cerebral venous angioma associated with varices: a case report and review of the literature

A varix occurring with a cerebral venous angioma is a rare combination of cerebral vascular malformations. The most common vascular anomaly associated with a venous angioma is a cavernous angioma. We report a case of bilateral supratentorial venous angioma with 2 varices involving the angioma situated on the right frontotemporal region. Multiple subependymal veins were seen in the right supratentorial region, which joined to form multiple collector veins, which, in turn, unified into a tortuous channel in the region of the sylvian fissure and continued into venous varices.     

Clinical and polysomnographic predictors of severe obstructive sleep apnea in the South Indian population

Background:With the emergence of lifestyle diseases in epidemic proportions, obstructive sleep apnea (OSA) is being increasingly recognized in less developed countries as well.Aim:We sought to study the demographic, clinical, and polysomnographic (PSG) predictors of OSA severity in a cohort of South Indian patients.Results:There were 152 (119 males and 33 females) subjects with a mean age of 53.8 years and body mass index (BMI) of 29.31. Mean AHI was 36.2/h (range: 5.1-110) and 66 subjects had severe OSA. Around 12% had the presenting complaint as insomnia, mainly of sleep maintenance. Of the subjects, 35% had witnessed apneas and 67% had excessive daytime sleepiness (EDS); 40% of patients had ≥2 risk factors. PSG parameters showed short sleep onset latency with a high arousal index. Mean apnea duration was 24.92 s. We found that age >55 years, BMI >25 kg/m², witnessed apneas, EDS, hypertension, dyslipidemia, reduced slow wave sleep duration, mean apnea duration >20 s, and desaturation index >10/h correlated well with OSA severity while the arousal index, sleep latency and efficiency, and exposure to smoking and alcohol showed no association.Conclusions:Older subjects with witnessed apneas are likely to have more severe OSA. Even though overall sleep architecture was similar between the groups, severe OSA had shorter slow wave sleep, longer apneas, and higher nocturnal hypoxemia.