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.
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.
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