Congenital factor VII deficiency

A 1 1/2-month-old baby with seizures, lethargy and refusal of feeds was diagnosed to have intracranial hemorrhage due to factor VII deficiency. MRI also demonstrated the unusual presence of a hemorrhagic infarct. The case underscores the importance of carrying out neuroimaging and appropriate hematological studies even in the absence of obvious external bleeding. Hypothesis for increased propensity for intra-cranial hemorrhage is discussed.     

A cross-genomic approach for systematic mapping of phenotypic traits to genes

We present a computational method for de novo identification of gene function using only cross-organismal distribution of phenotypic traits. Our approach assumes that proteins necessary for a set of phenotypic traits are preferentially conserved among organisms that share those traits. This method combines organism-to-phenotype associations,along with phylogenetic profiles,to identify proteins that have high propensities for the query phenotype; it does not require the use of any functional annotations for any proteins. We first present the statistical foundations of this approach and then apply it to a range of phenotypes to assess how its performance depends on the frequency and specificity of the phenotype. Our analysis shows that statistically significant associations are possible as long as the phenotype is neither extremely rare nor extremely common; results on the flagella,pili, thermophily,and respiratory tract tropism phenotypes suggest that reliable associations can be inferred when the phenotype does not arise from many alternate mechanisms.     

Recalled relationships with parents and perceptions of professional support in mothers of infants treated for cleft lip

This study examined whether individual differences in perception of the quality of professional support available at a time of stress may be associated with security of attachment. We developed a new measure of parents' perceptions of emotional and practical support provided by a wide range of professionals involved in the treatment of infants with cleft lip. It showed good internal reliability and stability over 4 months. Mothers of 102 infants with cleft lip, with or without cleft palate, completed the measure at 2 and 6 months, together with the Parental Bonding Instrument and the General Health Questionnaire. Mean scores reflecting how much they could trust or talk frankly, or share their worst fears, with professionals, and the extent to which they saw them as a source of useful information or practical help, were lower among mothers with recollections of low maternal care in childhood, or high control. This was the case at 2 and 6 months, and there were some indications of an increasing contribution of low maternal care from 2 to 6 months. The associations were not explained by current depression. Further research is needed to clarify the role of attachment processes in parents' responses to serious medical conditions in their children, and into the implications for the way professionals in paediatric services provide support.     

A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly

Congenital double lip is an uncommon developmental abnormality usually affecting the upper lip. We report a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate, and bilateral third finger clinodactyly. The disorder differs from Ascher syndrome and appears to represent a newly recognized syndrome.     

Development of indigenous local exhaust ventilation system: reduction of welders exposure to welding fumes

Two (portable and mobile) local exhaust ventilation (LEV) units were developed in collaboration with the Rural Technology Institute, Gandhinagar, India. Basically, each unit consists of three parts comprising an electric motor, a blower and a fume hood. In both units the motor is fixed in a rectangular iron frame in a foot-mount position and equipped compactly with a blower, which in turn is connected to a fume hood through a flexible hosepipe. The portable unit is light in weight (50 kg) and has a cone shaped metallic fume hood. The mobile unit, on the other hand, differs from the portable model with respect to its weight (150 kg), size, RPM, voltage requirement, hood shape and size, and has a motor enclosure. The efficiency of the portable and mobile units on trial bases was tested by measuring the manganese concentration as a reference metal in welding fumes generated by electric arc welding. The concentration of manganese (mean +/- SD) was 0.218 +/- 0.06 microg/m3 in the general environment. In the workplace area where joining of metal objects by welding was done, the concentration of manganese was found to be 0.63 +/- 0.09 and 3.75 +/- 0.56 microg/m3 at a distance of 5 m and 2 m away from the site of operation, respectively. In the breathing zone it was 22.16 +/- 20.90 microg/m3 which was reduced to 8.25 +/- 4.5 microg /m3 after application of a portable LEV showing about 63% removal of the manganese concentration from the breathing zone of the welder. In another experiment conducted with a mobile LEV unit for heavy-duty work, the concentration of manganese in the breathing zone without operating the mobile LEV was 70.06 +/- 37.38 microg /m3 but was lowered to 8.29 +/- 1.76 microg /m3 after operating the mobile LEV. This indicated an average removal of manganese content by about 88% from the breathing zone of the welder. In both the experiments locations of sample collection were similar.     

Bridging osteophyte of the anterosuperior sacroiliac joint as a cause of lumbar back pain

A case report is presented of a patient with an anterosuperior osteophytic bone bridge of the sacroiliac joint causing lumbar back pain. After prolonged physiotherapy, the bone bridge was excised, with complete resolution of the symptoms. Excision should only be considered in cases of symptomatic sacroiliac joint pain that does not respond to rehabilitation programmes and conservative treatment.     

Tuberculous arthritis of the appendicular skeleton: MR imaging appearances

Tuberculosis [TB] of the appendicular skeleton is an uncommon infection caused by the tuberculous bacilli and constitutes only 1-3% of all tuberculosis infections. MR imaging features of tuberculous arthritis include bone marrow oedema, cortical erosions, synovitis, joint effusion, tenosynovitis, soft tissue collections, and myositis. These imaging features are at times non-specific, but in the correct clinical context help in diagnosis of tuberculosis. We present the various pathological manifestations of TB arthritis involving the different joints of appendicular skeleton and discuss their MR imaging appearances.     

Female genital tuberculosis: hysterosalpingographic appearances

Genital tuberculosis is an important cause of infertility in developing countries and hysterosalpingography (HSG) is the initial procedure performed for the evaluation. Reviewing 37 cases of female genital tuberculosis, we encountered various appearances on HSG. Of 579 HSGs performed over a period of 4 years, 492 (85%) were performed as part of infertility work up. Genital tuberculosis was found in 6.3% of all the patients who underwent HSGs and 7.5% of all patients investigated for infertility. The various features of proven tuberculosis cases are illustrated in this pictorial review. We briefly discuss the pathology and these appearances along with radiopathological correlation.