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.Assessment of variations in the nasopalatine canal on CBCT:considerations from an anatomical point of view
Utkarsh YADAV ; Nandita SHENOY ; Junaid AHMED ; Nanditha SUJIR ; Archana M ; Aarti GUPTA
Journal of Periodontal & Implant Science 2025;55(1):62-71
Purpose:
The nasopalatine canal (NPC) is one of the most significant anatomical markers in the anterior maxillary region. Its location is quite important, especially for implant placement. Therefore, the purpose of this study was to use cone-beam computed tomography (CBCT) to evaluate the morphology, size, and anatomic variations of the NPC.
Methods:
A total of 150 individual CBCT images were assessed in various sections to evaluate the dimensions, morphology, and extent of the NPC. Reformatted sagittal images were chosen to classify the shape and course of the canal. The Student’s t-test, the χ 2 test, and Pearson correlation coefficients were used.
Results:
The NPC was longer in males than in females, and the mediolateral diameter of the canal was greater in older adults. In sagittal sections, the canal predominantly exhibits a cylindrical shape, while a spindle shape is the least common. In coronal sections, a single shape is most frequently observed, with a Y-shape being the least common. Regarding the orientation of the canal, slanted canals are more prevalent, whereas vertically curved canals are rare. Typically, 2 canal openings are observed, with 4 openings being the least common.
Conclusion
The current study highlights the challenges associated with identifying the anatomical appearance and variations of the NPC. Consequently, possessing a thorough understanding of this anatomy is essential before undertaking any surgical procedures, such as implant placement. This knowledge helps prevent complications such as nerve injuryrelated loss of sensation, bleeding due to blood vessel injury, and the development of a nasopalatine duct cyst following trauma to the canal during surgery.
5.Comparison of lung aeration loss in open abdominal oncologic surgeries after ventilation with electrical impedance tomography-guided PEEP versus conventional PEEP: a pilot feasibility study
A. R. KARTHIK ; Nishkarsh GUPTA ; Rakesh GARG ; Sachidanand Jee BHARATI ; M. D. RAY ; Vijay HADDA ; Sourabh PAHUJA ; Seema MISHRA ; Sushma BHATNAGAR ; Vinod KUMAR
Korean Journal of Anesthesiology 2024;77(3):353-363
Background:
Existing literature lacks high-quality evidence regarding the ideal intraoperative positive end-expiratory pressure (PEEP) to minimize postoperative pulmonary complications (PPCs). We hypothesized that applying individualized PEEP derived from electrical impedance tomography would reduce the severity of postoperative lung aeration loss, deterioration in oxygenation, and PPC incidence.
Methods:
A pilot feasibility study was conducted on 36 patients who underwent open abdominal oncologic surgery. The patients were randomized to receive individualized PEEP or conventional PEEP at 4 cmH2O. The primary outcome was the impact of individualized PEEP on changes in the modified lung ultrasound score (MLUS) derived from preoperative and postoperative lung ultrasonography. A higher MLUS indicated greater lung aeration loss. The secondary outcomes were the PaO2/FiO2 ratio and PPC incidence.
Results:
A significant increase in the postoperative MLUS (12.0 ± 3.6 vs 7.9 ± 2.1, P < 0.001) and a significant difference between the postoperative and preoperative MLUS values (7.0 ± 3.3 vs 3.0 ± 1.6, P < 0.001) were found in the conventional PEEP group, indicating increased lung aeration loss. In the conventional PEEP group, the intraoperative PaO2/FiO2 ratios were significantly lower but not the postoperative ratios. The PPC incidence was not significantly different between the groups. Post-hoc analysis showed the increase in lung aeration loss and deterioration of intraoperative oxygenation correlated with the deviation from the individualized PEEP.
Conclusions
Individualized PEEP appears to protect against lung aeration loss and intraoperative oxygenation deterioration. The advantage was greater in patients whose individualized PEEP deviated more from the conventional PEEP.
6.Occupational Nerve Injuries due to Metallic Foreign Bodies: A Case Series of Eighteen Patients
Gupta P ; Jindal M ; Garg S ; Garg K
Malaysian Orthopaedic Journal 2024;18(No.1):84-90
Introduction: Peripheral nerve injuries (PNIs) remain an
important health problem. PNIs mostly affect young men as
this age group is mostly involved in road traffic accidents
and other injuries at workplace. PNI can occur from foreign
bodies like metal chips while working in industries using
lathe machines. Among PNI’s, injuries to the ulnar nerve, the
brachial plexus and the median nerve are the most frequent
lesions encountered.
Materials and methods: This presentation is on a series of
18 cases of nerve injuries among industrial workers located
from finger level up to the arm excluding the brachial plexus
due to metallic foreign bodies entering while operating lathe
machines over a period of two years with patients being
followed-up over a one year period.
Results: Mean age in this series was 31.3 years with age
range 16-40 years and all were males. Two patients had more
than one nerve involvement and one patient had associated
vascular injury. All the patients showed functional
improvement. Most common nerve injured was median
nerve. Most common site for nerve injury was forearm.
Combined lesions most commonly involved the ulnar and
median nerves.
Conclusion: Social cost of traumatic peripheral nerve
injuries is significant since it has a higher incidence in
young, previously healthy, and economically active
people.
7.AMR Sign - An Arthroscopic S-shaped Fold Signifying Adequate Medial Meniscus Repair
Rajani AM ; Shah UA ; Mittal ARS ; Gupta S ; Garg R ; Rajani AA ; Punamiya M ; Singhal R
Malaysian Orthopaedic Journal 2023;17(No.2):13-20
Introduction: The preferred management of medial
meniscus tears has notably moved from meniscectomies
towards repair. With a higher volume of meniscal repairs
being done all across the world with every passing day, the
lack of an objective and definitive sign suggesting the
adequacy of its repair is daunting. The purpose of our study
was to introduce a unique and novel arthroscopic sign
formed after adequate repair of the medial meniscus, the
AMR (Adequacy of Medial meniscus Repair) sign. We
hypothesised that it is not only the objective end point for
repair, but can also form the indicator for excellent clinical,
functional, and radiological outcome even in the long term.
Materials and methods: This was a multicentric,
prospective study initiated by the corresponding author, and
the findings validated subsequently by the other authors.
Overall, it included 804 patients of isolated medial meniscus
tear operated with arthroscopic all-inside technique between
January 2014 and December 2017. Patients were segregated
into three groups based on whether an S-shaped curve in the
free, inner edge of the medial meniscus sign was formed
post-repair, lost after further tightening, or not formed upon
subjective completion of repair. All the patients were
followed-up and evaluated based of medial joint line
tenderness, McMurray’s test for medial meniscus, IKDC
score, WOMET score, and radiologically using an MRI at
the terminal follow-up.
Results: The mean terminal follow-up was 42.34±4.54
months. There was significant (p<0.01) improvement in all
patients at the terminal follow-up post-surgery, irrespective
of the group. The group in which AMR sign was formed and
maintained showed a significantly better functional outcome
on terminal follow-up as well as lower failure rates
compared to the other two groups.
Conclusion: AMR sign is an S-shaped fold at the inner, free
edge of medial meniscus, formed after an adequate repair of
isolated medial meniscus tear, as viewed on arthroscopy. It is
an objective sign denoting regained integrity of the collagen
architecture of the medial meniscus following repair. It is
also a reliable indicator of excellent long term functional,
clinical, and radiological outcome and also lower failure
rates in patients after arthroscopic medial meniscus repair.
8.Effects of glenohumeral corticosteroid injection on stiffness following arthroscopic rotator cuff repair: a prospective, multicentric, case-control study with 18-month follow-up
Amyn M. RAJANI ; Urvil A SHAH ; Anmol RS MITTAL ; Sheetal GUPTA ; Rajesh GARG ; Alisha A. RAJANI ; Gautam SHETTY ; Meenakshi PUNAMIYA ; Richa SINGHAL
Clinics in Shoulder and Elbow 2023;26(1):64-70
Background:
This study aimed to analyze the efficacy of single-dose corticosteroid injection (CSI) administered at 6 weeks postoperative to treat stiffness following arthroscopic rotator cuff repair (ARCR).
Methods:
In this prospective, multicentric, case-control study, post-ARCR stiffness at 6 weeks was treated with either a single dose of intra-articular CSI (CSI group) or physical therapy with oral analgesics (non-CSI group). Pain intensity according to visual analog scale (VAS), functional outcome using the Constant Murley Shoulder Score, time to return to activities of daily living (ADLs), and retear rate were recorded at 6 weeks, 9 weeks, 12 weeks, 6 months, 12 months, and 18 months postoperatively in both groups.
Results:
A total of 149 patients (54.5%) in the CSI group and 124 patients (45.5%) in the non-CSI group were included in this study. Pain and function were significantly better in the CSI group at 9-week, 12-week, and 6-month (P<0.001) follow-up, whereas they were not significantly different when the groups were compared at 12- and 18-month follow-up. The mean duration to return to ADLs was significantly shorter (P<0.001) in the CSI group. The incidence of retears was not significantly different (P=0.36) between groups at the end of 18 months of follow-up.
Conclusions
Single-dose intra-articular CSI administered at 6 weeks postoperative to treat post-ARCR stiffness significantly improved pain, function, and duration of return to ADLs without increasing the risk of retears compared to patients who did not receive intra-articular CSI.
9.Initial Longitudinal Outcomes of Risk-Stratified Men in Their Forties Screened for Prostate Cancer Following Implementation of a Baseline Prostate-Specific Antigen
Zoe D. MICHAEL ; Srinath KOTAMARTI ; Rohith ARCOT ; Kostantinos MORRIS ; Anand SHAH ; John ANDERSON ; Andrew J. ARMSTRONG ; Rajan T. GUPTA ; Steven PATIERNO ; Nadine J. BARRETT ; Daniel J. GEORGE ; Glenn M. PREMINGER ; Judd W. MOUL ; Kevin C. OEFFINGER ; Kevin SHAH ; Thomas J. POLASCIK ;
The World Journal of Men's Health 2023;41(3):631-639
Purpose:
Prostate cancer (PCa) screening can lead to potential over-diagnosis/over-treatment of indolent cancers. There is a need to optimize practices to better risk-stratify patients. We examined initial longitudinal outcomes of mid-life men with an elevated baseline prostate-specific antigen (PSA) following initiation of a novel screening program within a system-wide network.
Materials and Methods:
We assessed our primary care network patients ages 40 to 49 years with a PSA measured following implementation of an electronic health record screening algorithm from 2/2/2017–2/21/2018. The multidisciplinary algorithm was developed taking factors including age, race, family history, and PSA into consideration to provide a personalized approach to urology referral to be used with shared decision-making. Outcomes of men with PSA ≥1.5 ng/mL were evaluated through 7/2021. Statistical analyses identified factors associated with PCa detection. Clinically significant PCa (csPCa) was defined as Gleason Grade Group (GGG) ≥2 or GGG1 with PSA ≥10 ng/mL.
Results:
The study cohort contained 564 patients, with 330 (58.5%) referred to urology for elevated PSA. Forty-nine (8.7%) underwent biopsy; of these, 20 (40.8%) returned with PCa. Eleven (2.0% of total cohort and 55% of PCa diagnoses) had csPCa. Early referral timing (odds ratio [OR], 4.58) and higher PSA (OR, 1.07) were significantly associated with PCa at biopsy on multivariable analysis (both p<0.05), while other risk factors were not. Referred patients had higher mean PSAs (2.97 vs. 1.98, p=0.001).
Conclusions
Preliminary outcomes following implementation of a multidisciplinary screening algorithm identified PCa in a small, important percentage of men in their forties. These results provide insight into baseline PSA measurement to provide early risk stratification and detection of csPCa in patients with otherwise extended life expectancy. Further follow-up is needed to possibly determine the prognostic significance of such mid-life screening and optimize primary care physician-urologist coordination.
10.Optimal Management of Asymptomatic Carotid Stenosis: Counterbalancing the Benefits with the Potential Risks
Kosmas I. PARASKEVAS ; Dimitri P. MIKHAILIDIS ; Hediyeh BARADARAN ; Alun H. DAVIES ; Hans-Henning ECKSTEIN ; Gianluca FAGGIOLI ; Jose Fernandes e FERNANDES ; Ajay GUPTA ; Mateja K. JEZOVNIK ; Stavros K. KAKKOS ; Niki KATSIKI ; M. Eline KOOI ; Gaetano LANZA ; Christos D. LIAPIS ; Ian M. LOFTUS ; Antoine MILLON ; Andrew N. NICOLAIDES ; Pavel POREDOS ; Rodolfo PINI ; Jean-Baptiste RICCO ; Tatjana RUNDEK ; Luca SABA ; Francesco SPINELLI ; Francesco STILO ; Sherif SULTAN ; Clark J. ZEEBREGTS ; Seemant CHATURVEDI
Journal of Stroke 2022;24(1):163-165


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