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.Addendum: Improved postoperative recovery profile in pediatric oral rehabilitation with low-dose dexmedetomidine as an opioid substitute for general anesthesia: a randomized double-blind clinical trial
Naik B NAVEEN ; Manoj Kumar JAISWAL ; Venkata GANESH ; Ajay SINGH ; Shyam Charan MEENA ; Vamsidhar AMBURU ; Shiv Lal SONI
Journal of Dental Anesthesia and Pain Medicine 2023;23(1):53-
5.Incidence of Dural Tears in Open versus Minimally Invasive Spine Surgery: A Single-Center Prospective Study
Ayush SHARMA ; Akash SHAKYA ; Vijay SINGH ; Priyank DEEPAK ; Nilesh MANGALE ; Ajay JAISWAL ; Nandan MARATHE
Asian Spine Journal 2022;16(4):463-470
Methods:
This study included 420 operated cases of degenerative lumbar pathology with a prospective follow-up of at least 6 months. Patients were divided into the open surgery and MIS groups, and the incidences of DT, early return to work, and various demographic and operative factors were compared.
Results:
A total of 156 and 264 patients underwent MIS and open surgery, respectively. Incidental durotomy was documented in 52 cases (12.4%); this was significantly less in the MIS group versus the open surgery group (6.4% vs. 15.9%, p <0.05). In the open surgery group, four patients underwent revision for persistent dural leak or pseudomeningocele, but none of the cases in the MIS group had revision surgery due to DT-related complications. The incidence of DT was higher among patients with high body mass index, patients with diabetes mellitus, and patients who underwent revision surgery (p <0.05) regardless of the approach. The MIS group returned to work significantly earlier.
Conclusions
MIS was associated with a significantly lower incidence of DT and earlier return to work compared with open surgery among patients with degenerative lumbar pathology.
6.Improved postoperative recovery profile in pediatric oral rehabilitation with low-dose dexmedetomidine as an opioid substitute for general anesthesia:a randomized double-blind clinical trial
Naik B NAVEEN ; Manoj Kumar JAISWAL ; Venkata GANESH ; Ajay SINGH ; Shyam Charan MEENA ; Vamsidhar AMBURU ; Shiv Lal SONI
Journal of Dental Anesthesia and Pain Medicine 2022;22(5):357-367
Background:
Low-dose dexmedetomidine may be a suitable alternative to opioids for pediatric ambulatory procedures under general anesthesia (GA). However, the recovery profile remains unclear. Herein, we aimed to evaluate the effects of low-dose dexmedetomidine on the recovery profile of children.
Methods:
Seventy-two children undergoing ambulatory oral rehabilitation under GA were randomly and equally distributed into two groups (D and F). Group D received an infusion of dexmedetomidine 0.25 μg/kg for 4 min for induction, followed by maintenance of 0.4 μg/kg/h. Group F received an infusion of fentanyl 1 μg/kg over 4 min for induction, followed by maintenance at 1 μg/kg/h. The primary outcome was the extubation time. The secondary outcomes were awakening time, end-tidal sevoflurane (ET-Sevo) requirement, change in hemodynamic parameters, Richmond Agitation–Sedation Scale (RASS), Children's Hospital of Eastern Ontario pain scale (CHEOPS) score, length of PACU stay, and incidence of adverse events.
Results:
Statistically significant differences were observed in the recovery profile between the groups: the median time for extubation was 3.65 (3.44–6.2) vs. 6.25 (4.21–7) minutes in groups D vs. F (P=0.001), respectively, while the corresponding awakening times were 19 (18.75–21) and 22.5 (22–24) minutes, respectively (P < 0.001).The mean ET-Sevo was low in group D (1.1 vs. 1.2; P < 0.001). The heart rate was significantly low across all time points in group D, without resulting in bradycardia. The median RASS and CHEOPS scores were also significantly lower in group D. No significant differences were observed in the mean arterial pressure, incidence of adverse events, or length of PACU stay.
Conclusion
Low-dose dexmedetomidine was more effective than fentanyl as an opioid substitute at providing a better recovery profile in pediatric ambulatory oral rehabilitation under GA. Dexmedetomidine also significantly reduced sevoflurane consumption without causing adverse events or prolonging hospital stay.
7.Spontaneous Rectal Perforation with Transanal Evisceration of the Small Bowel: A Rare Case Report
Ajay Kumar PAL ; Prasoon KUMAR ; Dhirendra YADAV ; Awanish KUMAR ; Harvinder Singh PAHWA ; Krishna Kant SINGH
Journal of Acute Care Surgery 2022;12(2):74-76
Transanal evisceration of the small bowel is a rare surgical emergency. Rectal perforation in such cases is usually due to an underlying rectal prolapse. We report a case of a middle aged (45 years) male with spontaneous rectal perforation and transanal evisceration of the small bowel. Approximately 150 cm of small bowel had eviscerated transanally and the patient required emergent abdominal exploration, reposition of the small bowel, and repair of the rectal perforation. Small bowel evisceration through the anal verge is an emergent condition and the aim was to prevent life threatening complications related to sepsis.
8.Reappraisal of the Role of Ascitic Fluid Adenosine Deaminase for the Diagnosis of Peritoneal Tuberculosis in Cirrhosis
Amol Sonyabapu DAHALE ; Amarender Singh PURI ; Sanjeev SACHDEVA ; Anil K AGARWAL ; Ajay KUMAR ; Ashok DALAL ; Pritul D SAXENA
The Korean Journal of Gastroenterology 2021;78(3):168-176
Background/Aims:
Although peritoneal tuberculosis (TB) is one of the important differential diagnoses among cirrhotic patients with ascites, a peritoneal biopsy is not always available. High ascitic fluid adenosine deaminase (ADA) has been indicative of peritoneal TB. On the other hand, studies to assess its diagnostic utility based on the confirmation of peritoneal biopsy in cirrhotic patients are scarce.
Methods:
Patients with new-onset ascites were enrolled prospectively from a tertiary hospital. Peritoneal biopsy was applied according to clinical judgment when required. Based on pathology diagnosis of the peritoneum, the diagnostic efficacy of ascitic fluid ADA for peritoneal TB was evaluated in total and cirrhotic patients, respectively.
Results:
Among 286 patients enrolled, 78 were diagnosed with peritoneal TB. One hundred and thirty-two patients had cirrhosis, and 30 of those were diagnosed with peritoneal TB. The mean ADA was 72.2 U/L and 22.7 U/L in the peritoneal and non-peritoneal TB group, respectively, among the total study population, and 64.0 U/L and 19.1 U/L in the peritoneal and non-peritoneal TB group, respectively, among the subgroup with cirrhosis. The area under the curve for ADA to diagnose peritoneal TB was 0.96 in the total study population with a cutoff value of 41.1 U/L, and 0.93 in cirrhotic patients with a cutoff value of 39.9 U/L.
Conclusions
The ascitic fluid ADA measurements showed high diagnostic performance for peritoneal tuberculosis in patients with ascites regardless of cirrhosis at a similar cutoff value.
9.Conjoint Nerve Root an Intraoperative Challenge in Minimally Invasive Tubular Discectomy
Ayush SHARMA ; Vijay SINGH ; Romit AGRAWAL ; Nilesh MANGALE ; Priyank DEEPAK ; Jeet SAVLA ; Ajay JAISWAL
Asian Spine Journal 2021;15(4):545-549
Conjoint nerve root (CNR) is an embryological nerve root anomaly that mainly involves the lumbosacral region. The presence of CNR during tubular discectomy raises the chances of failure in spinal surgery and the risk of neural injuries. Tubular discectomy can be challenging in the presence of CNR owing to limited visualization. Here, we present a technical note on two cases of L5–S1 disc prolapse in the presence of conjoint S1 nerve root that was operated via a minimally invasive tubular approach. Any intraoperative suspicion of CNR while using the tubular approach should prompt the surgeon to perform a thorough tubular decompression prior to nerve root retraction. In patients with a large disc, disc should be approached via the axilla because the axillary area between the dura and the medial boarder of the root is very easy to approach in the presence of CNR. Safe performance of tubular discectomy is possible even in the presence of CNR in the lumbar spine.
10.Reappraisal of the Role of Ascitic Fluid Adenosine Deaminase for the Diagnosis of Peritoneal Tuberculosis in Cirrhosis
Amol Sonyabapu DAHALE ; Amarender Singh PURI ; Sanjeev SACHDEVA ; Anil K AGARWAL ; Ajay KUMAR ; Ashok DALAL ; Pritul D SAXENA
The Korean Journal of Gastroenterology 2021;78(3):168-176
Background/Aims:
Although peritoneal tuberculosis (TB) is one of the important differential diagnoses among cirrhotic patients with ascites, a peritoneal biopsy is not always available. High ascitic fluid adenosine deaminase (ADA) has been indicative of peritoneal TB. On the other hand, studies to assess its diagnostic utility based on the confirmation of peritoneal biopsy in cirrhotic patients are scarce.
Methods:
Patients with new-onset ascites were enrolled prospectively from a tertiary hospital. Peritoneal biopsy was applied according to clinical judgment when required. Based on pathology diagnosis of the peritoneum, the diagnostic efficacy of ascitic fluid ADA for peritoneal TB was evaluated in total and cirrhotic patients, respectively.
Results:
Among 286 patients enrolled, 78 were diagnosed with peritoneal TB. One hundred and thirty-two patients had cirrhosis, and 30 of those were diagnosed with peritoneal TB. The mean ADA was 72.2 U/L and 22.7 U/L in the peritoneal and non-peritoneal TB group, respectively, among the total study population, and 64.0 U/L and 19.1 U/L in the peritoneal and non-peritoneal TB group, respectively, among the subgroup with cirrhosis. The area under the curve for ADA to diagnose peritoneal TB was 0.96 in the total study population with a cutoff value of 41.1 U/L, and 0.93 in cirrhotic patients with a cutoff value of 39.9 U/L.
Conclusions
The ascitic fluid ADA measurements showed high diagnostic performance for peritoneal tuberculosis in patients with ascites regardless of cirrhosis at a similar cutoff value.

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