Menkes disease (MD) is a rare, lethal multisystemic disorder of copper metabolism characterized by cerebral and cerebellar neurodegeneration, fair skin with peculiar "kinky hair" and connective tissue abnormalities. It is an x-linked recessive disorder leading to copper deficiency which usually occurs in newborn babies which can even lead to death. The main characteristic features include low serum copper, developmental delay, osteopenia, tortuous vessels on imaging, hair changes, axial hypotonia, ceruloplasmin, elevated lactate levels, and recurrent respiratory tract infection. Here, we report the case of a 10-month-old male child presented with soft skin with wrinkling of skin, difficulty in holding neck, graying of hair, seizure, and respiratory tract infection. Thereby, he was diagnosed to have MD and was treated with copper supplements. However, the patient was expired at an age of 2 years. There are reports suggest that a critical period of 2 months of neonatal life within which the treatment showed a beneficial outcome with up to 50% successful cure rates. In India, very few cases are reported about this disease, which increases the relevance of this report. Further studies regarding this disease are necessary for establishing better treatment modalities. Early diagnosis and medical management of MD is crucial to improve the survival rate of patients.
Orthogonal frequency division multiplexing has high data rate capacity and lowest ISI, among the different present technologies and hence considered as the modulation technique for next generation wireless communication. Channel estimation is one of the crucial challenges in designing high performance receivers based on OFDM. In this paper, different operation mode for Levenberg Maquardt algorithm powered back propagation feed forward neural networks are examined for channel estimation of OFDM receivers. A novel, semi blind, optimized channel estimation technique is presented based on the outcomes of different experiments. The tests were conducted in the background of varying channel characteristics, subcarriers, pilot positioning etc. The performance of the different techniques were analyzed based on bit error rate, which is also used for the comparison between the different techniques. The simulations of the tests are included for illustrating the results.
Axenic culture of Philonotis falcata, collected from Idukki district of Kerala was established. Spores were surface sterilized in sodium dichloroisocyanurate (NaDCC) and inoculated into half strength Hoagland’s Basal media of pH 6.0. The inoculated tubes were incubated at 25°C at 18h light, 6h dark cycle for 30 days. The protonema developed were transferred to 30 ml fresh half strength media in conical flasks with different pH and kinetin concentrations and incubated for 45 days. Gametophyte proliferation, growth pattern and photosynthetic pigment content were estimated. Among the various media composition, pH5.0 with 0.5 mg/L kinetin supported maximum bud proliferation and growth. Pigment production was higher at pH 6.0, 0.5 mg/L kinetin. There seem to have interaction between pH and kinetin in growth, biomass production and pigment production. TLC plate analysis revealed similar banding pattern between wild and in vitro plant metabolites, indicating the possibility of using axenic plants in extraction of bioactive compounds thereby reducing the impact of collection from native habitat
Winchester syndrome is a rare inherited disease characterized by severe osteolysis particularly in the hands and feet, generalized osteoporosis and absence of subcutaneous nodules. It is a group of hereditary metabolic diseases in which certain enzymes are lacking or defective that would normally break down molecules into smaller units, which leads to the accumulation of molecules in cells and tissues. A middle-aged female who is a known case of Juvenile inflammatory arthritis presented with complaints of deformities in hands, feet, knees, and hip joints. She was short stature and the random of motion of her ankle, knee, and hip was restricted. Winchester syndrome is an extremely rare disorder inherited as an autosomal recessive trait. Winchester syndrome is caused by an alteration in a gene called MMP2. Symptomatic treatment can be given with anti-inflammatory drugs and skeletal muscle relaxants. Physical therapy may be advised as a supportive measure to improve the functioning of affected limbs. Genetic counseling on the basis of the inheritance of this disease may be beneficial. Our patient was symptomatically managed with anti-inflammatory drugs and discharged with calcium supplements. Furthermore, regular physiotherapy and replacement surgeries for joints were done. This syndrome was first diagnosed in 1969; only a few cases have been reported in the medical literature till now.
Ecosystem is a delicate balance between living and non-living system and hence is prone to disturbances by natural calamities and human disturbances. Ecosystem tries to revive itself but in some cases, restoration of ecosystem has to be done. Re introducing native species or enhancing their numbers can substantially decrease the time required for ecosystem revival. Bryophytes form an important group of land plants that play a vital role in primary and secondary succession. Axenic culture of bryophytes can be a source of inoculum for ecosystem restoration as the material is available throughout the year and biomass can be scaled up to the required amounts. In the present work axenic culture of Octoblepharum albidum has been developed and was inoculated to rotting wood logs. Octoblepharum developed on these logs and were similar to the natural corticolous population. There was significant improvement in production of secondary metabolites in axenic plants when they were transplanted and grown in natural ecosystem.
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