Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

Usher syndrome is recognized as the most frequent cause of hereditary deaf-blindness. Usher syndrome type I (USH1), the most severe form of the disease, is characterized by profound congenital sensorineural deafness, constant vestibular dysfunction, and retinitis pigmentosa of prepubertal onset. This form is genetically heterogeneous and five loci (USH1A-E) have been mapped thusfar. However, only the gene responsible for USH1 B (which accounts for approximately 75% of USH1 cases) has been characterized. It encodes a long-tailed unconventional myosin, myosin VIIA, with a predicted 2215 amino acid sequence. Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1. Four novel mutations were thereby identified. The possibility should now be considered of a sequence-based prenatal diagnosis in some of the families affected by this very severe form of Usher syndrome.      

Elemental and Organic Carbon in Ambient Air of a Major Indian Urban Community

Recent epidemiological studies have demonstrated associations between residential proximity to traffic sources and adverse respiratory symptoms as the Diesel Exhaust Particulate surfaces act as a site for the concentration of thousands of organic compounds. Analysis of 24 h integrated samples of PM10 and PM2.5 collected at a kerb site in a major Indian urban community, heavily impacted by heavy commercial vehicles, showed elemental carbon concentrations higher (14.4–48.8 μg/m³) than organic carbon (1.7–9.2 μg/m³). The organic to elemental carbon ratio varied from 0.09 to 0.31. Average concentration of PM10 and PM2.5 ranged 133–492 μg/m³ and 87–160 μg/m³, respectively.     

Retino-hypothalamic-pineal hypothesis in the pathophysiology of primary headaches

Primary headaches include migraine, tension, cluster headaches, paroxysmal hemicrania and miscellaneous headaches unassociated with structural lesions. A putative role of the retino-hypothalamic-pineal (RHP) axis in the pathophysiology of primary headaches is reviewed in terms of (1) retinal dysfunction, (2) hypothalamic dysfunction and human circadian desynchrony, (3) pineal melatonin dysfunction and (4) rostral limbic dysfunction mediating the human stress response. Unified RHP hypothesis is proposed, suggesting that an acute, periodic or chronic, circadian desynchrony and dysfunction of the whole or part of the RHP axis is implicated in the pathophysiology of primary headaches. Supportive evidence for the RHP hypothesis, including recent PET studies showing changes in dorsal pons, hypothalamus and rostral limbic structures, is presented.     

A community based approach to improve health care seeking for newborn danger signs in rural wardha,India

Objective  

To find out the effect of community mobilization and health education effort on health care seeking behavior of families with sick newborns, and to explore the rationale behind the changed health care seeking behaviors of mothers in a rural Indian community.     

Initiation of a pharmacovigilance programme at a tertiary care hospital in South India

Objective India is a country with the availability of a large number of pharmaceutical preparations as branded generics. At the time of this study there was no established pharmacovigilance system at the national level except a co‐ordinating centre at the national capital. The study site was a tertiary care teaching hospital with a bed capacity of 500 and with an average of 200 outpatient visits and 50 inpatient admissions per day. The hospital did not have any system of monitoring and documenting adverse drug reactions. The objective of the study was to introduce an adverse drug reaction (ADR) monitoring programme at a tertiary care teaching hospital and assess ADR‐related issues in both inpatient and outpatient departments. Method All departments willing to report ADRs were included in the study, which was carried out for one year. Physicians and nurses filled in the notification forms when they encountered suspected ADR cases. These cases were then assessed by a panel of four judges. According to Naranjo's algorithm, the ADRs were assessed and classified based on World Health Organization (WHO) classification. Key findings A total of 288 suspected cases were reported and 264 ADRs were confirmed by the panel. According to Naranjo's probability scale, 83 cases were categorized as ‘probable’, 181 cases were classified as ‘possible’, and none were classified as ‘unlikely’ or ‘definite’. The most common classes of drugs involved were antibiotics (25%), psychotropics (20%), analgesic and cardiovascular agents (14% each). Generalised itch and rash, tremors, urticarial drug reaction, oral ulcer, gastritis and akathesia and extrapyramidal symptoms were found to be the most common ADRs observed; 2.1% of the patients in the studied departments had ADRs. Conclusion The ADR reporting system was initiated at the hospital and was well received by the physicians. Appreciable participation of physicians was noted during the study in reporting ADRs. The study also gave an insight into the awareness of physicians about ADR‐related issues. The number of ADRs reported was reasonably comparable with the findings of other authors from India.     

Evaluation of three 'ready to formulate' oil adjuvants for foot-and-mouth disease vaccine production

Foot-and-mouth disease virus (FMDV) type OR(2)/75, grown on BHK 21 clone 13 cell monolayers, was inactivated with formalin. The virus was clarified and was either concentrated with 8% polyethylene glycol 6000 (PEG) or used in its untreated form for the preparation of oil adjuvant vaccines. The oil adjuvants used in this study were Montanide ISA 206 (which renders a water-in-oil-in-water (w/o/w) type of emulsion), Montanide ISA 57 and Montanide ISA 50V (both of which render water-in-oil (w/o) type of emulsions). The vaccines were tested on guinea pigs and calves. The results indicated that vaccines emulsified using Montanide ISA 57 elicited the best protective immune response in the animals, followed by those emulsified with Montanide ISA 50V and Montanide ISA 206. It was also found that vaccines formulated with virus concentrated using 8% polyethylene glycol (PEG) were more immunogenic than the vaccines formulated with the untreated harvest virus.     

Working area and angle of attack in three cranial base approaches: pterional, orbitozygomatic, and maxillary extension of the orbitozygomatic approach

OBJECTIVE: This study was designed to quantify the operative exposure obtained in the pterional, orbitozygomatic, and modified orbitozygomatic with maxillary extension surgical approaches. METHODS: The pterional and orbitozygomatic approaches and a variation of the orbitozygomatic osteotomy that included an extra centimeter of bone resection in the inferior direction ("maxillary extension") were performed on cadaveric heads. For each surgical exposure, the working area was determined by using triangles defined with anatomic points. The "angle of attack" of the approaches for the same target point was determined with the use of a robotic microscope. RESULTS: The maximum allowable angle of attack was significantly greater with the orbitozygomatic approach (37.2 +/- 4.7 degrees) than that with the pterional approach (27.1 +/- 4.3 degrees) (P < 0.001). The angle of attack with the maxillary extension (42.0 +/- 4.9 degrees) was significantly greater than that with the orbitozygomatic approach (P < 0.001). The working areas were 281, 343, and 371 mm(2) for the pterional, orbitozygomatic, and maxillary extension approaches, respectively. The orbitozygomatic approach with maxillary extension had a significantly larger working area than the pterional approach (P = 0.011). CONCLUSION: Increments in bony removal open a wider angle in which to work more than they increase the actual amount of working area. Increasing the amount of bone removed by using an orbitozygomatic approach instead of a pterional approach converts a narrow space into a wide portal, allowing surgeons to work closer to the surgical target while decreasing the need for brain retraction. Extending the orbitozygomatic approach into the maxillary region also improves the exposure area and angle, but less significantly.