Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes. Ocular signs are fairly common and include an achromic patch and retinal astrocytic hamartomas, which usually have a maximum size of between 0.5 and 5 mm. The incidence of tuberous sclerosis is estimated to be 1 in 5000-10,000 individuals, with both familial and sporadic cases reported. The diagnostic criteria for tuberous sclerosis include the presence of major and/or minor clinical features as well as genetic mutations. We present the case of a 15-year-old girl, presented with a history of seizures and blurred vision. Physical examination revealed angiofibroma on the face. Further evaluation, including contrast-enhanced MRI of the brain and ophthalmological consultation, led to the diagnosis of tuberous sclerosis. Additional imaging studies confirmed the presence of subependymal giant cell astrocytoma, retinal astrocytoma, lymphangioleiomyomatosis in the lungs, and renal angiomyolipoma. This case highlights the importance of considering tuberous sclerosis in patients presenting with seizures and ocular symptoms. This case sheds light on early diagnosis and appropriate management which are crucial in preventing complications and improving patient outcomes.
Diverticular bleeding is the most common cause of lower gastrointestinal bleeding and accounts for 20.8%-41.6% of cases in the Western world. Management involves initial resuscitation followed by diagnostic assessment. Colonoscopy is the investigation of choice as it localizes the bleed and has the potential to effectively deliver therapeutic interventions. Other diagnostic modalities include flexible sigmoidoscopy, a tagged red blood cell scan, or angiography. In cases where the bleeding source cannot be identified, intraoperative enteroscopy has emerged as a valuable tool for investigating obscure gastroenterology bleeds in specific patients. In this case report, we describe the management of a 77-year-old male with recently diagnosed pan-colonic diverticulosis who presented with multiple episodes of rectal bleeding and syncope. Due to his declining hemodynamic status and failed endoscopy and embolization, he was taken to surgery for a colectomy. Intraoperative colonoscopy was utilized to facilitate accurate identification of the pathology, assessment of anastomotic patency, and detection of surgical complications. This case report attempts to portray how the incorporation of endo-videoscopy into surgical planning has the potential to enhance patient outcomes and represent a significant advancement in the field of minimally invasive surgery.
Methicillin-resistant Staphylococcus aureus (MRSA) is a common hospital-acquired pathogen and can cause a wide spectrum of infections. In recent years, MRSA has emerged as a significant public health concern, particularly in hospitals. Intensive care units (ICUs) and burn units are high-risk areas for hospital-acquired MRSA infections, which can lead to increased morbidity, mortality, and healthcare costs. MRSA exhibits resistance to multiple antibiotics and can cause serious infections, including but not limited to pneumonia, endocarditis, and cutaneous infections, particularly in patients with burn injuries. The prevention and effective management of MRSA infections in both burn patients and those in ICUs is crucial, with strategies like isolation, regular disinfection, and prophylactic intranasal mupirocin. Early diagnosis of MRSA infection and isolation of patients is vital to prevent the spread of MRSA. Implementation of prevention strategies faces many challenges, such as cost, and the most successful infection management practices are still debated. This review has highlighted the substantial concern of MRSA colonization in intensive care and burn units. MRSA poses a significant risk to vulnerable patients, influenced by factors such as compromised immunity and invasive procedures. The prevalence of MRSA colonization varies, influenced by regional factors and infection control practices. Combating MRSA requires a multifaceted approach, including stringent infection control measures and education for healthcare workers and patients. As we move forward, continued research and cooperation are essential to reduce the burden of MRSA in these critical care settings.
Oral cancer (OC) is increasing worldwide, and it is mostly present to clinic in the late-stage of disease. Cancer of the lips, tongue, hard palate, upper and lower gingiva, buccal mucosa, and retromolar trigone are all included in the category of oral cavity cancer. Disease symptomatology and pathological grading decides the course of treatment. Several treatment modalities either alone in combinations may be utilized for oral squamous cell carcinoma (OSCC), including surgery, radiotherapy (external beam radiotherapy/brachytherapy), and adjuvant systemic therapy (chemotherapy or immunotherapy). Cancer patients also face a greater risk of oral side effects from chemotherapy, such as slowed tissue healing, bone, and salivary gland damage and disintegration, and disruption of the normal bacterial balance in the mouth. Consequently, the economic burden of the salivary gland, oral cavity, and oropharyngeal cancers must be also known for budget allocation, designing different programs and management strategies targeting oral cancers by any healthcare institutes. This article provides a summary of the most recent research that supports the use of chemotherapy for patients with advanced illness both alone and in conjunction with radiation including its adverse events and cost burden for oral cancers.
Carcinoma, Squamous Cell , Mouth Neoplasms , Oropharyngeal Neoplasms , Humans , Mouth Neoplasms/therapy , Oropharyngeal Neoplasms/drug therapy , Oropharyngeal Neoplasms/radiotherapy , Oropharyngeal Neoplasms/surgery , Combined Modality Therapy , Immunotherapy
Parkinson's disease (PD) is a common progressive neurodegenerative movement disorder. The cardinal feature of Parkinson's is neuronal degeneration causing a dopamine deficit in the brain which leads to a host of clinical features in the patient. However, consensus over specific clinical criteria for diagnosis remains to be established. Parkinson's does not have a cure yet, but a variety of diagnostic and treatment protocols have been developed over the years with a primary focus on pharmacological therapy. Anti-parkinsonian drugs such as levodopa lose their efficacy over time and are needed in higher doses as the disease inevitably progresses. An alternative to pharmacological therapy is deep brain stimulation (DBS). Deep brain stimulation involves transcranial placement of unilateral or bilateral leads (wires) most commonly in the sub-thalamic nucleus or the globus pallidus interna of the brain by stereotactic surgery. Given the multiple hypotheses explaining the different effects of DBS with sometimes conflicting mechanisms, it is difficult to pinpoint the exact way in which DBS operates. Nevertheless, it has proven to be significantly effective. DBS, although being a cost-effective treatment measure for Parkinson's patients, is not without limitations. A careful selection of patients is required preoperatively that determines the response and tolerance to the therapy in patients. This review aims to summarize the current literature on DBS in Parkinson's with a focus on the hypothesized mechanisms, selection criteria, advantages and its limitations.
Pulmonary Hypertension (PH) is defined as a disorder in which the mean Pulmonary Arterial Pressure (mPAP) is greater than 20 mmHg at rest. Pulmonary Arterial Hypertension (PAH) is considered when mPAP is > 20 mmHg and pulmonary vascular resistance (PVR) is ⩾ 3 WU. PAH is a chronic progressive disease resulting in right heart failure and premature death. It is postulated to be due to an inactivating mutation of a gene named bone morphogenetic protein receptor type 2 (BMPR2), whose predominant function is halting vascular proliferation. It has a lamentable prognosis if not rapidly diagnosed and adequately treated. Treatment of PAH has evolved in the past few decades since many related pathways and potential therapeutic targets have been explored. Parenteral prostanoids are the most effective therapeutic options for PAH. Epoprostenol is a synthetic analog of prostacyclin and a potent vasodilator that was Food and Drug Administration (FDA)-approved in December 1995 for intravenous use to treat PAH. It has also been used to treat different PAH subtypes, including connective tissue-related PAH like lupus and systemic sclerosis, congenital heart disease, and drug-induced PAH. It is effective in reducing mortality rates and improving survival rates. Although the use of Epoprostenol for PAH is challenging, it has been one of the most successful therapies used. In this manuscript, we review the pathophysiology of PAH and the risk stratification tool. We also discuss the mechanism of action of PAH-targeted therapies while focusing on the role of epoprostenol that has been investigated in many clinical trials. Finally, we discuss two ongoing clinical trials which highlight some potential therapeutic options.
