Background Vitamin B12 deficiency is linked to impaired cognition and memory along with a sensation of tingling and numbness, an outcome of poor myelination. Elevated methylmalonic acid and serum homocysteine levels are markers of Vitamin B12 deficiency. Elevated homocysteine levels are also often associated with Alzheimer's disease and stroke. We conducted this study to determine the effect of vitamin B12 replacement therapy on vitamin B12-deficient patients with noted cognitive impairment. Methods We conducted a cross-sectional, multicenter study of patients with minimal cognitive impairment (MCI) to assess for Vitamin B12 and homocysteine levels. All patients found to be deficient in vitamin B12 underwent replacement therapy and were assessed again after three months via the Mini-Mental State Examination (MMSE) and a review of symptoms. Results A total of 202 patients were included in the study. Of those, 171 (84%) patients reported marked symptomatic improvement after vitamin B12 replacement while MMSE scores improved in 158 (78%) patients. Of the remaining 44 patients who reported no symptomatic improvement, MMSE scores improved in 26 while 18 patients showed no MMSE score improvements. Conclusions Vitamin B12 deficiency is linked to cognition, and replacement therapy may be an option to improve patient cognition outcomes. Further studies are needed to confirm and refine the observed associations over a larger scale and to determine whether these findings will translate to a reduction in cognitive decline.
Objective: To investigate the mutation in Vangl1 gene in patients of myelomeningocele. Method: The cross-sectional study was conducted from July 2017 to December 2017 in the Dow Diagnostic and Research Laboratory, Karachi, after approval from the ethics review committee of Dow University of Health Sciences, Karachi, and comprised clinically diagnosed infants and 10 healthy individuals from the outpatient department of Jinnah Postgraduate Medical Centre, Karachi. Several anatomical parameters were considered, such as size and site of the cyst. Blood samples were drawn and polymerase chain reaction was conducted for the identification of mutation in Vangl1 gene. Mutation analysis was carried out by aligning the sequence with the reference sequence. Results: Of the 60 subjects, 50(83.3%) were cases with age range 0-10 years, and 10(16.6%) were age matched controls. Majority of the patients 44 (88%) were aged <1 year. Novel mutation in Vangl1 gene was identified at position 239, showing the substitution of valine with glycineV239G. Lumbar region was the most common site for the presentation of myelomeningocele in most of the patients 46(92%). Conclusion: The rare mutation of myelomeningocele was found present in the sample, and the disease was found mostly in the lumbar region. Key Words: Myelomeningocele, Neural tube disorders, Valine, Glycine, Mutation.
The long-term sequelae of COVID-19 have now become more common and appreciable. The SARS-CoV-2 virus can cause a variety of infectious and non-infectious pulmonary complications. The purpose of this study is to raise awareness about post-COVID-19 pulmonary sequelae, both infectious and non-infectious, in this geographical area. A retrospective study was conducted from July 1st 2020 to December 20th 2020. A total of 1200 patients were evaluated, with 83 suffering from post-COVID-19 pulmonary complications. The patients' mean age was 62 years (IQR 55-69), with 63 (75.9%) being male. The most common co-morbid illnesses were hypertension (49, 59%) and diabetes (45, 54.2%). The majority of them (37, 44.6%) had severe COVID-19, followed by critical COVID-19 (33, 39.8%). There was no statistically significant difference in recurrence of respiratory symptoms or duration of current illness between non-severe, severe, and critical COVID-19 patients. Non-infectious complications were observed in the majority of patients (n=76, 91.5%), including organizing pneumonia/ground glass opacities in 71 (88%) patients, fibrosis in 44 (55%), pulmonary embolism in 10 (12.5%), pneumomediastinum in 6 (7.4%) and pneumothorax in 7 (8.6%). Infective complications (25, 30.1%) included aspergillus infection in 10 (12.0%) and bacterial infection in 5 (8.47%), with more gram-negative infections and one patient developing Mycobacterium tuberculosis. Post COVID-19 mortality was 11 (13.3%). The long-term pulmonary sequelae of COVID-19 are not rare. Cryptogenic organizing pneumonia, ground glass opacities, and fibrosis were common post-COVID-19 sequelae in our patients. This necessitates frequent close monitoring of these patients in order to initiate early appropriate management and prevent further morbidity and eventual mortality.
BackgroundScleromalacia perforans is a rare ocular manifestation of rheumatoid arthritis which can potentially lead to blindness and is a late consequence in the course of the disease. It is an unusual finding for it to be present in a patient with joint pain without any rheumatologic progression of disease.Case presentationWe describe a rare case of scleromalacia perforans and orbital inflammatory disease in a 40-year-old Pakistani woman with apparently no associated rheumatologic deformity. It is rare in the sense that we usually see scleromalacia perforans with fixed deformities of rheumatoid arthritis in the hands or progressed systemic complications but not as a starting landmark of disease. She presented to us with pronounced eye manifestation which on further inquiry and investigation was found to be associated with rheumatoid arthritis. There was perforation of left globe on presentation and the right one was preserved. She visited various physicians and ophthalmologists and was treated with topical and systemic antibiotics but ended up losing sight in her left eye.ConclusionWe conclude that ocular manifestations, however rare they are, should be foreseen, investigated, and treated in patients with suspected arthritis as the complication is grave and sight threatening.
Ocean. Karachi, a city in Pakistan, suffered a similar massive outbreak in November 2016 in which more than 30,000 people were affected by the virus. Clinically, it initially presents with sudden onset fever, polyarthralgia, rash, headache, nausea, fatigue and myalgia. The disease itself is self-limiting, joint pain can 5 be persistent for months and even years in some cases. At present there are no vaccines or anti-viral drugs for the prevention and treatment of CHIK viral infection. However, multiple drugs are under trial. Treatment remains symptomatic with analgesics, anti-pyretic and 6 NSAIDs.
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