1.CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients
Divyani GARG ; Abhishek VAINGANKAR ; Anu GUPTA ; Roopa RAJAN ; Ajay GARG ; Ayush AGARWAL ; Farsana MUSTAFA ; Divya M RADHAKRISHNAN ; Awadh Kishor PANDIT ; Venugopalan Y VISHNU ; Mamta Bhushan SINGH ; Rohit BHATIA ; Achal Kumar SRIVASTAVA
Journal of Movement Disorders 2025;18(2):170-174
Objective:
Colony-stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare adult-onset leukoencephalopathy. Reports of CSF1R-L patients from the Indian subcontinent remain limited. We aimed to report four patients with genetically confirmed CSF1R-L from four Asian Indian families and described their clinical, molecular, and radiological features.
Methods:
All patients underwent clinical examination, brain magnetic resonance imaging, and whole-exome sequencing to identify causative variants in the CSF1R gene. We also reviewed published reports of Indian patients with CSF1R-L.
Results:
The age at enrollment ranged from 34 to 40 years. The duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioral syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis was observed in one patient. We identified four different variants (three missense variants and one in-frame deletion). Radiological findings revealed white matter involvement and diffusion restriction involving the subcortical white matter and pyramidal tracts.
Conclusion
We expand the literature on CSF1R-L patients from India by reporting four new cases.
2.CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients
Divyani GARG ; Abhishek VAINGANKAR ; Anu GUPTA ; Roopa RAJAN ; Ajay GARG ; Ayush AGARWAL ; Farsana MUSTAFA ; Divya M RADHAKRISHNAN ; Awadh Kishor PANDIT ; Venugopalan Y VISHNU ; Mamta Bhushan SINGH ; Rohit BHATIA ; Achal Kumar SRIVASTAVA
Journal of Movement Disorders 2025;18(2):170-174
Objective:
Colony-stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare adult-onset leukoencephalopathy. Reports of CSF1R-L patients from the Indian subcontinent remain limited. We aimed to report four patients with genetically confirmed CSF1R-L from four Asian Indian families and described their clinical, molecular, and radiological features.
Methods:
All patients underwent clinical examination, brain magnetic resonance imaging, and whole-exome sequencing to identify causative variants in the CSF1R gene. We also reviewed published reports of Indian patients with CSF1R-L.
Results:
The age at enrollment ranged from 34 to 40 years. The duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioral syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis was observed in one patient. We identified four different variants (three missense variants and one in-frame deletion). Radiological findings revealed white matter involvement and diffusion restriction involving the subcortical white matter and pyramidal tracts.
Conclusion
We expand the literature on CSF1R-L patients from India by reporting four new cases.
3.CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients
Divyani GARG ; Abhishek VAINGANKAR ; Anu GUPTA ; Roopa RAJAN ; Ajay GARG ; Ayush AGARWAL ; Farsana MUSTAFA ; Divya M RADHAKRISHNAN ; Awadh Kishor PANDIT ; Venugopalan Y VISHNU ; Mamta Bhushan SINGH ; Rohit BHATIA ; Achal Kumar SRIVASTAVA
Journal of Movement Disorders 2025;18(2):170-174
Objective:
Colony-stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare adult-onset leukoencephalopathy. Reports of CSF1R-L patients from the Indian subcontinent remain limited. We aimed to report four patients with genetically confirmed CSF1R-L from four Asian Indian families and described their clinical, molecular, and radiological features.
Methods:
All patients underwent clinical examination, brain magnetic resonance imaging, and whole-exome sequencing to identify causative variants in the CSF1R gene. We also reviewed published reports of Indian patients with CSF1R-L.
Results:
The age at enrollment ranged from 34 to 40 years. The duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioral syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis was observed in one patient. We identified four different variants (three missense variants and one in-frame deletion). Radiological findings revealed white matter involvement and diffusion restriction involving the subcortical white matter and pyramidal tracts.
Conclusion
We expand the literature on CSF1R-L patients from India by reporting four new cases.
4.Beyond survival: understanding post-intensive care syndrome
Lovish GUPTA ; Maazen Naduthra SUBAIR ; Jaskaran MUNJAL ; Bhupinder SINGH ; Vasu BANSAL ; Vasu GUPTA ; Rohit JAIN
Acute and Critical Care 2024;39(2):226-233
Post-intensive care syndrome (PICS) refers to persistent or new onset physical, mental, and neurocognitive complications that can occur following a stay in the intensive care unit. PICS encompasses muscle weakness; neuropathy; cognitive deficits including memory, executive, and attention impairments; post-traumatic stress disorder; and other mood disorders. PICS can last long after hospital admission and can cause significant physical, emotional, and financial stress for patients and their families. Several modifiable risk factors, such as duration of sepsis, delirium, and mechanical ventilation, are associated with PICS. However, due to limited awareness about PICS, these factors are often overlooked. The objective of this paper is to highlight the pathophysiology, clinical features, diagnostic methods, and available preventive and treatment options for PICS.
5.Beyond survival: understanding post-intensive care syndrome
Lovish GUPTA ; Maazen Naduthra SUBAIR ; Jaskaran MUNJAL ; Bhupinder SINGH ; Vasu BANSAL ; Vasu GUPTA ; Rohit JAIN
Acute and Critical Care 2024;39(2):226-233
Post-intensive care syndrome (PICS) refers to persistent or new onset physical, mental, and neurocognitive complications that can occur following a stay in the intensive care unit. PICS encompasses muscle weakness; neuropathy; cognitive deficits including memory, executive, and attention impairments; post-traumatic stress disorder; and other mood disorders. PICS can last long after hospital admission and can cause significant physical, emotional, and financial stress for patients and their families. Several modifiable risk factors, such as duration of sepsis, delirium, and mechanical ventilation, are associated with PICS. However, due to limited awareness about PICS, these factors are often overlooked. The objective of this paper is to highlight the pathophysiology, clinical features, diagnostic methods, and available preventive and treatment options for PICS.
6.Beyond survival: understanding post-intensive care syndrome
Lovish GUPTA ; Maazen Naduthra SUBAIR ; Jaskaran MUNJAL ; Bhupinder SINGH ; Vasu BANSAL ; Vasu GUPTA ; Rohit JAIN
Acute and Critical Care 2024;39(2):226-233
Post-intensive care syndrome (PICS) refers to persistent or new onset physical, mental, and neurocognitive complications that can occur following a stay in the intensive care unit. PICS encompasses muscle weakness; neuropathy; cognitive deficits including memory, executive, and attention impairments; post-traumatic stress disorder; and other mood disorders. PICS can last long after hospital admission and can cause significant physical, emotional, and financial stress for patients and their families. Several modifiable risk factors, such as duration of sepsis, delirium, and mechanical ventilation, are associated with PICS. However, due to limited awareness about PICS, these factors are often overlooked. The objective of this paper is to highlight the pathophysiology, clinical features, diagnostic methods, and available preventive and treatment options for PICS.
7.Beyond survival: understanding post-intensive care syndrome
Lovish GUPTA ; Maazen Naduthra SUBAIR ; Jaskaran MUNJAL ; Bhupinder SINGH ; Vasu BANSAL ; Vasu GUPTA ; Rohit JAIN
Acute and Critical Care 2024;39(2):226-233
Post-intensive care syndrome (PICS) refers to persistent or new onset physical, mental, and neurocognitive complications that can occur following a stay in the intensive care unit. PICS encompasses muscle weakness; neuropathy; cognitive deficits including memory, executive, and attention impairments; post-traumatic stress disorder; and other mood disorders. PICS can last long after hospital admission and can cause significant physical, emotional, and financial stress for patients and their families. Several modifiable risk factors, such as duration of sepsis, delirium, and mechanical ventilation, are associated with PICS. However, due to limited awareness about PICS, these factors are often overlooked. The objective of this paper is to highlight the pathophysiology, clinical features, diagnostic methods, and available preventive and treatment options for PICS.
9.Complex dichotomous links of nonalcoholic fatty liver disease and inflammatory bowel disease: exploring risks, mechanisms, and management modalities
Kanishk AGGARWAL ; Bhupinder SINGH ; Abhishek GOEL ; Durgesh Kumar AGRAWAL ; Sourav BANSAL ; Sai Gautham KANAGALA ; Fnu ANAMIKA ; Aachal GUPTA ; Rohit JAIN
Intestinal Research 2024;22(4):414-427
Nonalcoholic fatty liver disease (NAFLD) has been shown to be linked to inflammatory bowel disease (IBD) due to established risk factors such as obesity, age, and type 2 diabetes in numerous studies. However, alternative research suggests that factors related to IBD, such as disease activity, duration, and drug-induced toxicity, can contribute to NAFLD. Recent research findings suggest IBD relapses are correlated with dysbiosis, mucosal damage, and an increase in cytokines. In contrast, remission periods are characterized by reduced metabolic risk factors. There is a dichotomy evident in the associations between NAFLD and IBD during relapses and remissions. This warrants a nuanced understanding of the diverse influences on disease manifestation and progression. It is possible to provide a holistic approach to care for patients with IBD by emphasizing the interdependence between metabolic and inflammatory disorders.
10.Impact of antioxidants in improving semen parameters like count, motility and DNA fragmentation in sub-fertile males: a randomized, double-blind, placebo-controlled clinical trial
Ameet PATKI ; Rohit SHELATKAR ; Monica SINGH ; Sweta AGARWAL ; Venugopal M ; Shashikant UMBARDAND ; Apoorva REDDY ; Priya KANNAN ; Srilatha GORTHI ; Gautam KHASTGIR ; Anita KULSHRESHTHA ; Gayatri GANU
Translational and Clinical Pharmacology 2023;31(1):28-39
Male infertility is solely responsible for 20–30% of infertility cases. Oxidative damage of sperm DNA is positively linked with oligoasthenoteratozoospermia (OAT), and male infertility. The antioxidants are being explored worldwide to combat OAT, sperm DNA fragmentation and reactive oxygen species. The objective of the study was to assess the effectiveness of an antioxidant blend in improving sperm count, semen parameters and reducing DNA fragmentation index (DFI) in sub-fertile males. A prospective, double-blind, randomized, placebo-controlled trial was conducted in 300 sub-fertile males (25–45 years) from ten study sites in India. Subjects were randomized in either the antioxidant blend treatment group or placebo group. We assessed changes in sperm count, motility, normal morphology, semen volume, and percent DFI before and after treatment (90 days). To further stratify data on different criteria post hoc analysis was performed. Statistical analysis was performed using SPSS 10.0 software. There were improvements in sperm count, semen volume, sperm motility, and sperm normal morphology in the treatment group. There was improvement in sperm count in severe oligospermia subjects (sperm count < 5 million/mL, 5–10 million/mL, 10.1–15 million/mL), and high-extremely higher baseline DFI (20–30%, 31–40% and above 40%), as per post hoc analysis. There was no premature discontinuation and adverse events were reported during the study, indicating safety and well-tolerability of treatment. Study results confirmed the well-researched fact of antioxidants being effective to reduce oxidative stress and thus improve sperm DNA integrity and also improved semen parameters in males aged 40 and above.

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