Carcinoma breast metastatic to the hand and the foot

Metastases to the peripheral bones of the extremities are rare. Such lesions are often diagnosed as inflammatory or infective in nature. We present a report of a case of simultaneous involvement of the peripheral bones of the extremities – the talus and the thumb of the left hand – with a brief review of pathophysiology and management.     

Determinants of Acclimatisation in High Altitude

Background

A total of 31 cases of effects of high altitude were admitted to a field hospital from a particular sector during the year 2008. This study was hence undertaken to see the efficacy of acclimatisation as well as outline the determinants of acclimatisation. Methods: The study monitored the transients in the acclimatisation period as well as laid down the guidelines to certify their fitness after the acclimatisation period.

Result

Almost 4.70% of transients were found unfit to proceed to higher altitudes even after acclimatisation. Tachycardia with oxygen saturation below 90% by digital pulse oximetry were the parameters found to be statistically significant as an indicator to declare a person as not fully acclimatised or otherwise.

Conclusion

The administrative authorities must ensure that an individual is fully acclimatized, based on the fitness certificates issued, before being dispatched to their units located in high altitude areas.Key Words: Acclimatisation, Pulse oximetry, High altitude area     

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria

We have shown previously that a variant allele of the short-chain acyl- CoA dehydrogenase ( SCAD ) gene, 625G-->A, is present in homozygous form in 7% of control individuals and in 60% of 135 patients with elevated urinary excretion of ethylmalonic acid (EMA). We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a new susceptibility variant in the SCAD gene of two patients with SCAD deficiency, and investigated their frequency in patients with elevated EMA excretion. The first SCAD-deficient patient was a compound heterozygote for two mutations, 274G-->T and 529T-->C. These mutations were not present in 98 normal control alleles, but the 529T-->C mutation was found in one allele among 133 patients with elevated EMA excretion. The second patient carried a 1147C-->T mutation and the 625G- ->A polymorphism in one allele, and a single point mutation, 511C-->T, in the other. The 1147C-->T mutation was not present in 98 normal alleles, but was detected in three alleles of 133 patients with elevated EMA excretion, consistently as a 625A-1147T allele. On the other hand, the 511C-->T mutation was present in 13 of 130 and 15 of 67 625G alleles, respectively, of normal controls and patients with elevated EMA excretion, and was never associated with the 625A variant allele. This over-representation of the haplotype 511T-625G among the common 625G alleles in patients compared with controls was significant ( P < 0.02), suggesting that the allele 511T-625G-like 511C-625A- confers susceptibility to ethylmalonic aciduria. Expression of the variant R147W SCAD protein, encoded by the 511T-625G allele, in COS-7 cells showed 45% activity at 37 degrees C in comparison with the wild- type protein, comparable levels of activity at 26 degrees C, and 13% activity when incubated at 41 degrees C. This temperature profile is different from that observed for the variant G185S SCAD protein, encoded by the 511C-625A allele, where higher than normal activity was found at 26 and 37 degrees C, and 58% activity was present at 41 degrees C. These results corroborate the notion that the 511C-625A variant allele is one of the possible underlying causes of ethylmalonic aciduria, and suggest that the 511C-->T mutation represents a second susceptibility variation in the SCAD gene. We conclude that ethylmalonic aciduria, a commonly detected biochemical phenotype, is a complex multifactorial/polygenic condition where, in addition to the emerging role of SCAD susceptibility alleles, other genetic and environmental factors are involved.      

Coronary artery anomalies diagnosed by magnetic resonance angiography

Coronary artery anomalies are uncommon entities that may be associated with sudden death. Because of its 2‐D projection imaging nature, conventional X‐ray coronary angiography may not accurately delineate the origins and course of aberrant coronary arteries with respect to the great vessels. Non‐invasive, cross‐sectional imaging techniques such as coronary CT angiography and magnetic resonance angiography are increasingly used in clinical practice to diagnose coronary artery anomalies. Although this study reviews coronary artery anatomy and selected anomalies as seen with true fast imaging with steady‐state precession magnetic resonance angiography, the information provided is equally applicable to electrocardiogram‐gated coronary CT angiography.     

The relationship between objective sleep variables and subjective sleep estimation in schizophrenia

AIM: Few investigations of sleep structure in schizophrenia have concentrated on the relationship between objective and subjective sleep variables. The aim of this study was to assess objective sleep variables and subjective estimation of sleep duration and sleep quality. METHODS: Polysomnography was performed in 20 chronic patients with schizophrenia during three consecutive nights. After final awakenings subjects answered questions concerning subjective estimations of sleep duration, sleep latency, number of awakenings, and sleep depth. Pearson correlations between ranged subjective reports and objective sleep variables were performed. RESULTS: The results showed a high positive correlation between objective sleep latency and its subjective estimation; a positive correlation between subjective estimation of sleep depth and percentage of slow wave sleep (SWS%); a positive correlation between eye movement (EM) density and subjective estimation of wakefulness during the night; and a negative correlation between EM density and dream reports. CONCLUSION: We concluded that objective sleep variables are related to subjective sleep estimation in schizophrenic patients. In these patients, EM activity in REM sleep is related to the subjective feeling of wakefulness. (Int J Psych Clin Pract 2000; 4:63-67)     

A pilot study on utility of Malayalam version of Addenbrooke's Cognitive Examination in detection of amnestic mild cognitive impairment: A critical insight into utility of learning and recall measures

Aims:

This pilot study sought to determine whether the Malayalam adaptation of Addenbrooke''s Cognitive Examination (M-ACE) can effectively identify patients with amnestic mild cognitive impairment (a-MCI) and the impact of measures of learning and free recall.

Materials and Methods:

A cohort of 23 patients with a-MCI aged between 55-80 years diagnosed as per current criteria and 23 group matched cognitively normal healthy controls (CNHC) were studied. The measures of acquisition and delayed recall were the Rey Auditory Verbal Learning Test (RAVLT) and Wechsler Memory Scale (WMS)-III (verbal and visual subsets) and Delayed Matching-to-sample Test (DMS)-48. Test scores of M-ACE registration and recall scores were included. To examine the differences in test performances between the groups, we compared the number of subjects with test scores less than 1.5 standard deviation (SD) of the control scores. Comparisons between a-MCI and controls were drawn using Fisher''s exact test and Mann-Whitney U tests.

Results:

M-ACE registration component ascertained on a 24-point scale failed to demonstrate any differences between a-MCI and controls (P = 0.665) as opposed to recall judged on a cumulative 10-point scale (P = 0.001). Significant differences were noted in RAVLT list learning (P < 0.001) and list recall (P = 0.003), WMS-III paragraph learning (P <0.001) and recall (P = 0.007), visual learning (P = 0.004) and recall (P = 0.001).

Conclusions:

M-ACE recall scores are an effective screening tool to identify patients with suspected a-MCI. Both word list and paragraph learning and recall components have been found to be sensitive to concretely identify a-MCI and impairment on at least 2 tests should be considered in the diagnostic criteria of MCI rather than rely on a single screening battery.     

Tobacco Chewing and Associated Factors Among Youth of Western Nepal: A Cross-sectional Study

Background:

Smokeless tobacco is found to be as addictive and harmful as smoking but have not been explored into, especially among youth.

Objectives:

This study was conducted to find the prevalence of tobacco chewing among college students in Nepal and the factors that have influence over their use.

Study design:

A cross-sectional study with a self-administered questionnaire.

Materials and Methods:

Five colleges of different streams in Pokhara city were selected for the study. A total of 816 students participated. The study was conducted during the period of May 2006–February 2007, using a semi-structured, self-administered questionnaire.

Results:

Overall prevalence of ever tobacco chewing was 21.3% (males 30.2% and females 10.9%) among the youth with average age of initiation 15.7 years. Pan masala and gutka were used by 63.6% and frequency of use varied widely and only 5.7% said they were daily users. Reasons cited for chewing were most commonly ‘just like it’ or ‘friends chew’. Multiple logistic regression analysis showed age, ever smoking status, being ever alcoholic, and having friends or family members who chewed were significantly associated with students’ tobacco chewing. Almost one-tenth of the students believed they were addicted to chewing tobacco and 42.5% of them had tried to quit the habit.

Conclusion:

The study shows a high prevalence of tobacco chewing by Nepali youth. Important factors that influenced the habit were having chewer friends, their own smoking and alcohol status and having family members who chewed. It is pertinent to consider these when formulating cessation and prevention programs     

Gyri of the human neocortex: an MRI-based analysis of volume and variance

This magnetic resonance imaging (MRI)-based morphometric analysis of cortical topography in the human brain is based upon the segmentation and parcellation of volumetric T1-weighted MRI data for a set of 20 young adult brains including 10 males and 10 females. For the most part, each parcellation unit (PU) of the neocortex corresponds to a single or a portion of a single gyrus. The volumes of each PU were computed for each brain. Subsets of PUs were also grouped so as to represent the neocortex for the frontal, temporal, parietal and occipital lobes. The coefficient of variation of the mean volume of total neocortex and that of the neocortex assigned to individual lobes cluster around 10%, whereas that of neocortex assigned to the individual gyri (PU) is more than twice that value. Approximately 80% of the total variance in gyral volume arises from determinants interactive for individual and specific gyri, while only approximately 10% of the total variance appears to be a reflection of uniform scaling to total neocortical volume. Sexual dimorphism contributes a pervasive though relatively small component of this variance. These results have implications for the study of structure-function correlation, and the proper statistical methods of handling volumetric data in morphometric studies. In addition, the nature of the covariance structure of the data will lead to future hypotheses regarding the relationships between the various potential genetic and epigenetic gyral influencing factors.