20th Sep 2023: Mr. Vishal Menon (name changed), a 59-year-old man hailing from Mumbai, India, has experienced a remarkable turnaround in his Parkinson’s disease (PD) symptoms following the replacement of his deep brain stimulator (DBS) device. His journey highlights the potential benefits of DBS surgery in enhancing the lives of PD patients.

Facing this resurgence of symptoms, Mr. Menon sought help and was admitted neurosurgeon to Wockhardt Hospital in Mumbai in June 2023. Under the care of Dr. Manish Baldia, a specialized in DBS surgery for PD, a comprehensive evaluation was conducted. Dr. Baldia concluded that a replacement of Mr. Menon’s DBS device was necessary.

On June 6, 2023, the surgery was successfully performed, during which Dr. Baldia implanted a new DBS device, meticulously programmed to provide enhanced stimulation to the brain regions governing movement.

Following the surgical intervention, Mr.Menon experienced a profound transformation in his overall health. Within mere hours, he regained his ability to walk without difficulty. His grip strength saw substantial improvement, and the stiffness in his calves, along with rigidity, notably reduced. The once-present bradykinesia also showed signs of improvement, allowing for smoother and more effortless movement. Overjoyed with the positive outcomes, Mr. Menon expressed feeling like an entirely new individual. His newfound mobility enabled him to independently partake in activities that had become challenging due to worsening PD symptoms.

Dr. Manish Baldia, Consultant Neurosurgeon, Wockhardt Hospitals, Mumbai Central, said “Mr. Menon’s case exemplifies the transformative power of deep brain stimulation surgery in the realm of Parkinson’s disease treatment. Through the replacement of his DBS device and precise programming, we’ve witnessed a remarkable resurgence in his mobility and overall well-being. This success reinforces the potential of DBS as a safe and effective option for patients seeking relief from the challenges posed by Parkinson’s” Disease.

Mr. Menon’s journey serves as a testament to the efficacy of DBS surgery in managing PD symptoms. Deep brain stimulation, as a minimally invasive procedure, has demonstrated its ability to significantly alleviate the burdens of PD. Individuals grappling with PD are advised to initiate a dialogue with their healthcare professionals regarding the potential suitability of DBS surgery as an option. This surgical approach, involving the placement of electrodes in targeted brain areas, has proven safe and effective in ameliorating symptoms like tremors, rigidity, bradykinesia, and gait disturbances. Ultimately, DBS has the capacity to enhance quality of life and promote increased independence among PD patients.

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This case study revolves around a family consisting of a couple and their three adult sons, aged 31, 32, and 33 years. The sons exhibited developmental delays, intellectual disabilities, and other health issues since childhood. Despite multiple visits to various doctors over a span of 30 years, the cause of their condition remained unknown. Eventually, a crucial genetic diagnosis shed light on their condition, leading to a better understanding and potential options for the family’s future.

The family’s three sons exhibited common traits such as developmental delays, intellectual disabilities, hyperactivity, and obesity. Despite seemingly normal antenatal and post-natal histories, their early life was marked by recurrent upper respiratory infections, delayed milestones, and neurological abnormalities. The family’s persistence in seeking medical advice and undergoing tests demonstrated their unwavering commitment to understanding their sons’ condition.

Over time, the family’s hopes diminished as they faced countless doctor visits and even stem cell transplantation, a desperate attempt to find a solution. The turning point came when they sought medical consultation with the author, who, based on their comprehensive history and symptoms, suspected a genetic issue and recommended appropriate genetic testing.

Genetic testing revealed that all three affected sons and their mother carried a CUL4B mutation. This X-linked recessive condition explained the siblings’ shared symptoms and developmental challenges. The diagnosis not only provided clarity about the condition but also offered insights into potential future outcomes and management strategies.

The family received detailed genetic counseling to understand the implications of the diagnosis. They learned that the CUL4B mutation was responsible for their sons’ conditions and that their mother was a carrier of the mutation. This newfound knowledge eased their anxieties and provided a clearer understanding of the family’s genetic makeup.

The family expressed gratitude for the diagnosis that brought clarity to their decades-long struggle. With knowledge about the genetic cause, the family could finally move forward with a sense of direction. The parents felt relieved that future pregnancies could be planned with confidence, knowing the genetic basis of the condition and the risk factors involved.

The case study underscores the importance of pursuing a definitive diagnosis, especially when faced with complex and longstanding medical issues. It highlights the value of genetic testing in identifying underlying genetic mutations responsible for various health conditions. The case also serves as a reminder that accurate diagnosis can lead to informed decisions, better management strategies, and more hopeful outlooks for affected families.

Talking about this case, Dr. Sheetal Goyal, Brain and Nerve care, Wockhardt Hospitals, Mumbai Central, said “This case made me witness personally the transformative power of accurate genetic diagnosis. It not only provides answers to long-standing medical mysteries but also offers a guiding light for families seeking understanding and direction. Through the lens of genetics, we unveil the intricate stories written within our genes, paving the way for personalized care and empowering families to navigate their journey with knowledge and hope.”

The journey of this family showcases the significance of persistence in seeking answers and the pivotal role of genetic diagnosis in unraveling complex medical conditions. It emphasizes the importance of medical professionals’ expertise in recognizing patterns, asking the right questions, and recommending appropriate diagnostic tests. Ultimately, the timely genetic diagnosis not only brought relief to the family but also illuminated a path forward, allowing them to make informed decisions about their future.

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By Dr. Shraddha Deshpande, Aesthetic, Plastic & Reconstructive surgeon, Wockhardt Hospitals, Mumbai Central and Dr. Gulshan Rohra, Cardiothoracic Surgeon, Wockhardt Hospitals, Mumbai Central

The patient was diagnosed with a deficiency in proteins called Protein C and S. This condition led to a series of serious complications related to blood clotting, including blockages in multiple arteries, a blockage in the main artery supplying the retina in her eye, and non-bleeding areas of tissue damage (infarcts).

A 47-year-old previously healthy woman, started having trouble seeing clearly with both of her eyes. Her left eye was particularly affected. At the same time, she felt throbbing pain in her left hand. For this, she tied it tightly with her saree, which caused her left palm to turn blue. Additionally, for several years, she had been experiencing occasional difficulty breathing and a dry cough.

Concerned about the condition, the patient sought medical attention at a nearby hospital in Byculla. An arterial doppler test revealed low resistance of blood flow in the left distal radial artery at the wrist, likely due to reduced blood supply. She was subsequently admitted to Wockhardt hospital for her further treatment.

Upon admission, the patient underwent urgent peripheral angiography, which revealed a 100% blockage with clot formation in the left brachial artery. An immediate clot suction procedure was performed to restore blood flow. Subsequently, the patient was transferred to the Intensive Care Unit (ICU) for further monitoring and management. Blood-thinning medications were administered to prevent further clot formation. Additionally, a thrombophilia panel was sent for testing to assess the presence of any underlying blood clotting disorders.

To address concerns regarding the catheter’s functionality, a fluoroscopy-guided examination was conducted, revealing the presence of clots in the artery of the hand. Multiple clot suction procedures were performed using a clot extraction device.

A subsequent MRI brain with angiography indicated multiple small non-hemorrhagic infarcts and blood vessel occlusion. The patient was referred to Dr. Gulshan Rohra, Cardio-thoracic Surgeon for surgical intervention. Thereafter she was operated for an urgent left forearm volar dorsal fasciotomy, carpal tunnel release and clot extraction from the brachial artery, which was performed by Dr. Shraddha Deshpande and Dr. Gulshan Rohra.

During the surgery, a complete loss of blood flow below the wrist level was observed, with the fingers presenting dryness and blackish discoloration.

She eventually had to undergo amputation of her hand, however most of the forearm could be salvaged.

Due to blurring of vision in the left eye, the patient was referred to Dr. Kataria for an ANA blot and fundoscopy (eye examination), which confirmed central retinal artery blockage caused by a clot.

The patient’s stay in the hospital was uneventful thereafter and she was discharged after appropriate recovery and monitoring.

Dr. Gulshan Rohra, Cardiothoracic Surgeon, Wockhardt Hospitals, Mumbai Central says, “This case emphasizes the complications associated with Protein C and S deficiency, leading to catastrophic multiple artery thrombosis in a young female patient. The management involved urgent clot suction, blood-thinning medications, surgical interventions, and multidisciplinary consultations. Through prompt medical intervention and careful monitoring, the patient achieved stabilization and successful recovery. This case highlights the importance of early detection and appropriate management of thrombotic disorders, especially in individuals with underlying clotting deficiencies.”

Dr. Shraddha Deshpande, Consultant  Plastic, Reconstructive  and Aesthetic Surgeon, Wockhardt Hospitals, Mumbai Central, said ” Being a part of the multidisciplinary team that provided comprehensive care to this patient with Protein C and S deficiency and catastrophic multiple artery thrombosis was a great experience. The surgical interventions, such as volar dorsal fasciotomy, carpal tunnel release, and clot extraction, played a crucial role in restoring blood flow and preventing further complications. Our objective was to optimize the patient’s condition and ensure the best possible outcome. Working in collaboration with Dr. Gulshan Rohra and other specialists, we diligently pursued successful stabilization and facilitated the patient’s recovery.”

About Wockhardt Hospital:

Wockhardt Hospitals is a chain of tertiary care super-specialty hospitals with facilities in, Nagpur, Rajkot, Wardha, South Mumbai & North Mumbai. All Wockhardt Hospitals have state-of-the-art infrastructure and globally benchmarked processes to enable Patient Care & Safety. Wockhardt Hospitals Ltd. is one of the few professionally managed corporate hospital groups in the country which prioritises patient safety and quality of care at the core of its strategy. The overall 1500 bedded hospitals & has over 1000 Standard Operating Procedures or Protocols for both clinical and non-clinical processes in place. The guiding philosophy is to serve and enrich the Quality of Life of patients.

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August 21, 2023: The COVID-19 pandemic has cast an unprecedented shadow over the world, disrupting lives and healthcare systems in ways we never imagined. While the primary focus has been on battling the virus itself, an unexpected aftermath has been quietly emerging in the field of orthopedics. A concerning surge in cases of Avascular Necrosis (AVN) of the femoral head has been observed across India, drawing attention to the complex interplay between the pandemic and its impact on bone health.

Avascular Necrosis, often referred to as ‘osteonecrosis,’ is a debilitating condition that occurs when there is inadequate blood supply to the bone, leading to tissue death. The femoral head, a vital component of the hip joint, is particularly vulnerable to AVN. This condition can cause excruciating pain, joint dysfunction, and ultimately necessitate surgical intervention. Historically, AVN cases have been sporadic, often linked to trauma or chronic medical conditions. However, a concerning pattern has emerged in the post-COVID era.

Several factors contribute to the increased incidence of AVN in India after the COVID pandemic. The prolonged periods of immobility and decreased physical activity during lockdowns have been a significant contributing factor. Coupled with the prevailing anxiety and stress, many individuals have adopted sedentary lifestyles, inadvertently impacting their bone health. Furthermore, disruptions in regular healthcare services have delayed diagnosis and treatment, exacerbating the progression of AVN in many cases.

An intriguing case that sheds light on the unique challenges faced by patients during this time is that of a young individual with Down Syndrome who required a Total Hip Replacement (THR). Down Syndrome, a genetic disorder, presents its own set of challenges for medical care. Traditional THR surgeries often involve post-operative hip precautions, which can be particularly challenging for patients with Down Syndrome due to cognitive and physical limitations. To address this, a novel approach – the Direct Anterior Approach was employed at Wockhardt Hospital, Mumbai Central by Dr. Supreet Bajwa.

The Direct Anterior Approach is a minimally invasive surgical technique that allows access to the hip joint without detaching muscles or tendons. This innovative approach significantly reduces the risk of dislocation and eliminates the need for post-operative hip precautions. In the case of the patient (Minesh Goglani, 32) with Down Syndrome, this approach proved to be a game-changer. The patient’s recovery was smoother, and the rehabilitation process was more manageable, highlighting the potential benefits of embracing advanced surgical techniques tailored to individual needs.

As we navigate the complex landscape of post-COVID healthcare, it is imperative that we remain vigilant about the unintended consequences that may emerge. The surge in AVN cases underscores the importance of maintaining an active lifestyle, seeking prompt medical attention, and embracing advancements in medical care. While the pandemic has posed unprecedented challenges, it has also accelerated innovation and adaptation within the medical field, as seen in the case of the Direct Anterior Approach.

In conclusion, the increased incidence of Avascular Necrosis of the femoral head in India after the COVID pandemic serves as a poignant reminder of the far-reaching impacts of the crisis. By learning from individual cases, like the patient with Down Syndrome, and harnessing the power of cutting-edge surgical techniques, we can usher in a new era of orthopedic care that is more patient-centered and resilient in the face of unexpected challenges.

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