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1.
BMJ Case Rep ; 20152015 Oct 16.
Article in English | MEDLINE | ID: mdl-26475874

ABSTRACT

We report a case of bilateral useless hand syndrome, a rare presenting manifestation of vitamin B12 deficiency. A 38-year-old man, a strict vegetarian and a teacher by occupation, presented with acute onset clumsiness of both hands while performing fine movements. Detailed history-taking, examination of the patient and relevant investigations (complete blood count, serum vitamin B12 and MRI of the cervical spinal cord) were carried out. Laboratory analysis was suggestive of vitamin B12 deficiency and MRI demonstrated a lesion involving the posterior columns of the cervical cord. The patient was diagnosed as a case of non-compressive cervical myelopathy predominantly involving the posterior column due to vitamin B12 deficiency. Acute bilateral useless hand syndrome can be a rare presenting feature of vitamin B12 deficiency.


Subject(s)
Hand/physiopathology , Vitamin B 12 Deficiency/diagnosis , Vitamin B 12 Deficiency/physiopathology , Adult , Cervical Vertebrae/pathology , Diagnosis, Differential , Diet, Vegetarian , Follow-Up Studies , Hand/pathology , Humans , Magnetic Resonance Imaging/methods , Male , Rare Diseases , Spinal Cord/pathology , Spinal Cord Diseases/pathology , Syndrome , Vitamin B 12 Deficiency/pathology
2.
J Neuroimmunol ; 286: 71-6, 2015 Sep 15.
Article in English | MEDLINE | ID: mdl-26298326

ABSTRACT

INTRODUCTION: Japanese encephalitis (JE) is one of the most lethal mosquito-borne viral encephalitis seen in India. Toll-like receptors (TLRs) play a critical role in host defence mechanism against flaviviruses causing encephalitis. We assessed whether abnormalities in toll-like receptor (TLR3) increase the susceptibly for JE. METHOD: A total of 103 JE patients (all from an endemic area) and 103 healthy control subjects were examined for TLR3 Leu412Phe polymorphism with the help of polymerase chain reaction (PCR) and genetic sequencing method. RESULTS: A significantly higher frequency of Leu412Phe polymorphism was noted in JE patients as compared with healthy controls [mutant (TT) genotype, P-value=0.019; mutant (TT)+heterozygous (CT) genotype, P-value=0.013]. Furthermore, frequency of 412Phe allele (T) of TLR3 gene was significantly higher in patients with JE than in controls (P-value=0.001). There was no significant difference in the distribution of any of the TLR3 Leu412Phe (L412F) polymorphism genotype with death within 1month. CONCLUSION: TLR3 gene polymorphism might confer host genetic susceptibility to JE in Indian population. TLR3 polymorphism did not affect the mortality.


Subject(s)
Encephalitis, Japanese/genetics , Polymorphism, Single Nucleotide/genetics , Toll-Like Receptor 3/genetics , Adolescent , Adult , Chi-Square Distribution , Child , Child, Preschool , DNA Mutational Analysis , Encephalitis, Japanese/mortality , Encephalitis, Japanese/physiopathology , Female , Genetic Association Studies , Glasgow Coma Scale , Humans , India , Infant , Infant, Newborn , Leucine/genetics , Male , Phenylalanine/genetics , Predictive Value of Tests , Young Adult
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