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AIIMS researchers pioneer breakthrough diagnostic tool for rare genetic disorders
AIIMS researchers pioneer breakthrough diagnostic tool for rare genetic disorders

Time of India

time05-05-2025

  • Health
  • Time of India

AIIMS researchers pioneer breakthrough diagnostic tool for rare genetic disorders

New Delhi: Researchers at the AIIMS-Delhi have developed a powerful new method to diagnose Primary Ciliary Dyskinesia , or PCD, a rare and often misdiagnosed genetic disorder affecting the respiratory system. The innovative technique, built around transmission electron microscopy , or TEM, stands to revolutionise the way ciliary disorders are detected and understood. The breakthrough, led by Dr Subhash Chandra Yadav, Electron Microscope Facility, Department of Anatomy, and Professor Kana Ram Jat, Department of Paediatrics, was published recently in the journal Microscopy and Microanalysis (University of Oxford). Published under the title 'An Innovative TEM-Based Ultrastructural Imaging Methodology for the Diagnosis of Respiratory Ciliary Disorders,' the study detailed the method that improves diagnostic accuracy dramatically by identifying structural defects in motile cilia in nearly 70 per cent of suspected cases -- an achievement unmatched even by cutting-edge whole-genome sequencing. The method was used on 200 patients with suspected ciliary disorders, and confirmed diagnoses in 135 cases. The scope of the technique extends far beyond PCD, researchers claimed. It can accurately detect a range of rare ciliary disorders related conditions, including respiratory anomalies, renal cystic disease, blindness, neural tube defects, intellectual disability, skeletal abnormalities (such as polydactyly and abnormally short limbs), ectodermal defects, situs inversus (a condition where internal organs are mirrored), and infertility. What sets this methodology apart is its comprehensive and refined workflow, researchers said. From meticulous sample collection and fixation to ultra-thin sectioning and advanced TEM imaging, every step is optimised to enhance the visibility of tiny defects - boosting detection capability by nearly 640 times compared to conventional methods, they said. Medical experts hail this innovation as a game-changer in genetic diagnostics. It promises faster and more accurate diagnoses and lays the groundwork for tailored therapies, improved patient care, and deeper insights into the mechanisms of ciliary disorders, said one of the authors.

Med aspirants term NEET-UG as ‘unusually tough' & long
Med aspirants term NEET-UG as ‘unusually tough' & long

Time of India

time04-05-2025

  • Health
  • Time of India

Med aspirants term NEET-UG as ‘unusually tough' & long

Mumbai: Many medical aspirants who took NEET-UG 2025 on Sunday were disappointed with the question paper. They found it "unusually tough" and "lengthy". Last year, the test was marred by discrepancies, irregularities and alleged malpractices, and this time, the paper could lead to lower cutoffs for admissions, claimed teachers. Last year, 67 students scored full marks, but the numbers went down after a review. This year, scoring higher marks will be difficult, but the scoring is relative and the difficulty level was the same for everyone and, therefore, students need not worry about the results, they said. You Can Also Check: Mumbai AQI | Weather in Mumbai | Bank Holidays in Mumbai | Public Holidays in Mumbai Keyur Cholera from a leading NEET-UG coaching institute said there were many conceptual and "twisted questions" in the biology and chemistry sections, adding that physics was extremely lengthy and many students couldn't even complete it. "Last year, even a student with full marks would have been ineligible for AIIMS-Delhi before the review. But this year, scoring high will be very difficult and the cutoffs could go down by 30-50 marks. (For instance, if govt colleges in any state closed at 630 last year, it can drop to 600 this year, out of 720) But students need not worry as the scores and ranks will be relative and the paper was tough for everyone," said Cholera, adding that a few questions were even out of NCERT books' scope. tnn

Lalu discharged from AIIMS-Delhi
Lalu discharged from AIIMS-Delhi

Time of India

time21-04-2025

  • Health
  • Time of India

Lalu discharged from AIIMS-Delhi

Patna: RJD chief Lalu Prasad was discharged from the AIIMS-Delhi on Monday. He was admitted to AIIMS-Delhi after his health deteriorated in Patna on April 2. After being discharged from the hospital, he directly went to his daughter and MP Misa Bharti 's house in Delhi. He is likely to return to Patna in the first week of May. According to sources, doctors from Singapore will do a routine check-up of Lalu in Delhi before he comes back to Patna. On Monday, Lalu also appointed eight national spokespersons for the party. They are Shyam Kumar, Raj Kumar Rajan, Dinesh Pal, Anuj Kumar Tarun, Rakesh Ranjan, Utpal Vallabh, Badshah Alam and Ravi Shankar Ravi, all university teachers either in Delhi or Bihar. Before his discharge from AIIMS, RJD state president Jagdanand Singh met Lalu. Former Union minister Pashupati Paras, whose RLJP severed ties with the BJP-led NDA recently, had also met the RJD chief in the hospital. Paras has indicated that he might go with the opposition Grand Alliance in Bihar in July. Paras said on Monday that Lalu blessed him when he visited the RLJP chief's residence for 'chuda-dahi' feast on January 15. "We have a family relationship with Lalu," he said, and made it clear that his party would decide by the first week of July which alliance they would go with. "Morning shows the day. If you are with us in adversity, we will be with you," Paras said, indicating the path his party may choose before the assembly elections in Bihar due in Oct-Nov this year.

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