Peutz-Jeghers syndrome: A case series.

INTRODUCTION: Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder characterized by gastrointestinal hamartomatous polyps, due to mutation of the STK11/LKB1 gene located on chromosome 19p. The polyps are most commonly found in the small bowel followed by colon. CASE PRESENTATION: Our case series includes 4 patients, three being male and one female. Each of them either presented with abdominal pain and other associated symptoms. Oral cavity and lip melanin pigmentation were common. CT abdomen revealed multiple large jejunal, ileal, gastric and colon polyps. Cancer was found in one patient. Different surgical approaches were adopted. All recovered well. DISCUSSION: PJS is an autosomal dominant disorder with an estimated incidence of 1:50,000 to 1:200,000 cases with a significant family history. Mostly found in small bowel followed by colon, it can also occur in a rare organ like gall bladder as evident in our case. PJS carries a substantial risk for gastrointestinal cancer. The treatment modality depends on the site of polyp, mode of presentation and availability of the expertise. CONCLUSION: PJS is a common disease in our part which is usually observed in teen age groups male. They have a varied presentation, from intestinal obstruction (due to intussusception) to GI bleeding. Colonic malignancy at young age may be the first presentation of the disease. Observation of melanin pigmentations on lips helps diagnose the disease; and one should always look at this findings in a young patient with pain abdomen or in intestinal obstruction to confirm/exclude the disease.

Outcomes of stereotactic thalamotomy in patients of essential tremor: A systematic review.

BACKGROUND: Essential tremor is a neurological condition associated with movement disorder with more prevalence among adult group of population. The burden of essential tremor is peaking globally but with the advancement in the area of functional neurosurgery such as stereotactic thalamotomy, the quality of life of such patients can be improved drastically. METHODS: This systemic review was conducted in accordance to the guidance of preferred Reporting items for Systematic Review and Meta-Analysis(PRISMA). Databases of "PubMed", "Embase", "Web of Science", "Cinhal Plus", and "Scopus" from inception till 2023 was undertaken. A combination of keywords, Medical Subject Headings (MeSH), and search terms such as Search strategy for PubMed search was as follows: "stereotactic thalamotomy" AND "essential tremor". RESULTS: This systematic review analyzed 9 studies with a total of 274 patients of essential tremor patients. Unilateral thalamotomy was carried out among 268 patients and bilateral thalamotomy in rest of the patients. Vim and Vom nucleus were the site of thalamotmy with ventral intermedius nucleus being the major one. Ten different types of clinical tremor rating scales were used to assess pre operative and post operative improvement in the tremor scales of the individual patients. Dysarthria and limb weakness was noted post operative complication in majority of the cases. CONCLUSION: Our study revealed that stereotactic thalamotomy provided good functional outcome in patients of essential tremor who underwent unilateral thalamotomy compared to bilateral thalamotomy. The positive outcome outweighs the complications in such functional surgery.

Continuous versus interrupted anastomotic technique for the hepaticojejunostomy: a prospective cohort study.

Background: Interrupted sutures is the gold standard technique of hepaticojejunostomy (HJ) for bilioenteric anastomosis. This study compares the safety and early complications of continuous and interrupted suture HJ. Methods: A prospective study involving all elective HJ between September 2019 and June 2021 was conducted. Patients with type IV or V biliary strictures, duct diameter less than 8 mm and/or associated vascular injury, and bilateral HJ were excluded. The study patients were divided into two random groups; interrupted and continuous anastomotic technique. Patient demographics, preoperative parameters including pathology (benign vs. malignant), HJ leak, suture time, and postoperative morbidity were recorded. Results: Total 34 patients were enroled. Eighteen (52.9%) were into interrupted and 16 (47.1%) patients into the continuous group. Both the groups were comparable with regards to demographics, haemoglobin, serum albumin, preoperative cholangitis and biliary stenting. Total three (8.8%) patients in the entire study developed bile leak; interrupted-2 and continuous-1, which was not significant statistically (P=1.0). Similarly, total number of sutures used and the mean operating time to complete anastomosis in the continuous group was significantly lesser than the interrupted group (2.3±0.5 versus 9.6±1.6, P<0.001) and (16.2±3.1 versus 38.6±9.2 min, P<0.001), respectively. There were three (18.8%) re-exploration in the continuous anastomotic technique. Among them, only one re-operation was due to HJ anastomosis failure without mortality, remaining had re-exploration for bleeding (non-HJ). Conclusions: Both the techniques is safe with comparable morbidity. Further, continuous has an added advantage of decreased anastomotic time and cost.

Antibiotics use among residents in Eastern Nepal: a community-based mixed method study.

Introduction: According to the WHO, more than two-thirds of all antibiotics are used in the community, of which about 30% are used inappropriately. The antimicrobial resistance (AMR) problem is a growing threat to Nepal because of indiscriminate and inappropriate use. However, exact data on the extent of inappropriate use of antibiotics in the community is scarce in Nepal. Objectives: To know the extent of inappropriate use of antibiotics among the community and their knowledge and practice towards the usage of antibiotics. Methods: A community-based cross-sectional study was conducted from 20 December 2017 to 20 March 2018 using a purposive sampling technique. A semi-structured questionnaire was used while conducting face-to-face interviews with 336 respondents to find out the knowledge and practice regarding antibiotic use. Investigators took different antibiotics (in all dosage forms) with them to show participants whether they knew and/or used the antibiotics in the last year. Results: The mean age of respondents with standard deviation was 39.87±13.67 years ranging from 18 to 84 years. Around 35.42% of respondents were farmers and 34.52% were homemakers. 28.87% of respondents were illiterate, 32.44% had primary education and 33.33% had secondary education. Almost half of them (48.51%) think that antibiotics are safe and can be commonly used. So, 43.15% of them preferred taking antibiotics when they had a common cold. The majority of the participants (81.84%) did not have any idea about antibiotic resistance. 94.6% of the respondents used antibiotics inappropriately. Conclusion: The results of the present study revealed that inappropriate use of antibiotics is high and associated with low earning wages in both males and females in the age group 18-39 years.

Malignant rectal GIST managed with chemotherapy (Imatinib Mesylate): A case report and a comprehensive review.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors involving the gastrointestinal tract, arising from the interstitial cells of Cajal. GIST comprises about 1% of all GI tumors. Rectal GISTs are rare and comprise of approximately 5% of all GISTs and only 0.1% of rectal tumors are found to be GISTs. Rectal GISTs may be diagnosed incidentally or present with symptoms, including defecation problems, bleeding, and/or pain. We report a case of a 46-year-old male with rectal GIST metastasized to the liver and bilateral lung parenchyma managed by Imatinib Mesylate (IM) regimen. Rectal GIST although being rare, must be considered as a differential diagnosis in a patient presenting with defecatory problems with bleeding.

Median nerve schwannoma with a diagnostic delay of 8 years: a case report.

Introduction: Schwannomas are benign tumors of the peripheral nerve sheath, and the median nerve is the most commonly involved nerve. These benign tumors of the peripheral nerve sheath are very rare; they are clinically and radiologically similar to most other benign swellings of the hand; thus, they are often misdiagnosed. Case Presentation: A 41-year-old lady presented with an 8-year-long history of swelling over the distal forearm. The tumor measured 3.5×3.5×3.5 mm and was located over the flexor aspect of the distal part of her right forearm. Schwannoma was suspected from the clinical presentation and imaging, but the final diagnosis was established only after the surgery and histopathological analysis. At the follow-up after 1 year, the patient is doing well and her symptoms have not recurred. Conclusion: Imaging characteristics of schwannoma can be misinterpreted as some other condition, making the preoperative diagnosis very difficult and important. Thus, clinicians should be aware of such swellings, especially those that have been unnoticed or misdiagnosed, and provide optimal diagnoses to confer good outcomes.

Role of radiological corroboration in a locally aggressive inverted papilloma: a case report.

Introduction and importance: Sinonasal inverted papilloma is a rare benign tumor of the nasal cavity and paranasal sinuses (PNS). Radiological evaluation is the key to management. Case presentation: A 46-year-old male presented with complaints of right nasal congestion and occasional bleeding for 4 months. During anterior rhinoscopy, a pinkish fleshy mass occupying the right nasal cavity was seen. X-ray and computed tomography (CT) PNS view showed opacification in the right nasal cavity and maxillary sinus. An MRI of the nose and PNS revealed a peculiar convoluted striated/cerebriform pattern. Histopathology report described the features of an inverted papilloma. The patient underwent endoscopic removal of the mass under general anesthesia. Surgical resection of the tumor was performed along with adjacent normal mucosal tissues. The patient recovered well and was followed-up for recurrence. Clinical discussion: Sinonasal inverted papilloma is commonly found in males in their fifth to sixth decade of life. A CT scan is the initial modality of choice to evaluate the extent of the disease. MRI is superior to CT in distinguishing tumors from other conditions as well as to evaluate soft tissue extensions. Involvement of the frontal sinus is a risk factor for recurrence. The first option for treating an inverted papilloma is complete surgical removal with the adjacent uninvolved mucosa. Conclusion: In a biopsy-proven case, radiological assessments like CT and MRI play a pivotal role in studying the typical morphology, delineating the extension, and detecting recurrence.

Critical View of Safety Dissection and Rouviere's Sulcus for Safe Laparoscopic Cholecystectomy: A Descriptive Study.

Objective: To determine the importance of a critical view of safety (CVS) techniques and Rouviere's sulcus (RS) in laparoscopic cholecystectomy (LC) and its relation to biliary duct injuries (BDIs) and to determine the frequency and the type of RS. Design, Setting, and Participants: A descriptive study was carried out among 76 patients presenting to the surgery department of a tertiary care center in Nepal. The study population included all patients in the age group 16-80 years undergoing LC. Outcome Measures: The main outcome of interest was to calculate the percentage of BDIs along with the frequency and the type of RS. Results: A total of 76 patients were enrolled in the study, out of which 57(75%) were female patients with a male-to-female ratio of 1:3 and a mean age of 45.87 ± 15.33 years. Seventy-one (93.4%) patients were diagnosed with symptomatic gallstone disease. The CVS was achieved in 75 (98.7%) of the cases, whereas in 1 case, the CVS could not be achieved, and in the same patient routine LC was converted into open cholecystectomy owing to the difficult laparoscopic procedure. In 56 (73.7%) cases, RS was first visible to the operating surgeons after port installation, alignment, and adequate traction of the gallbladder; in 20 (26.3%) cases, RS was not originally apparent. Conclusion: According to the findings of this study and the literature's critical assessment of safety, this method will soon become a gold standard for dissecting gall bladder components. The technique needs to be extended further, especially for training purposes. Major difficulties can be avoided by identifying RS before cutting the cystic artery or duct during LC.

Immunoglobulin A nephropathy in remission: a case report.

Immunoglobulin A nephropathy is the most prevalent form of primary glomerulonephritis. Case presentation: A 33-year-old military male presented with complaints of fever, headache, myalgia, chills, and haematuria for 10 years. His lab results showed elevated serum creatinine levels and proteinuria. A renal biopsy was done which was consistent with a diagnosis of immunoglobulin A nephropathy. He was managed with antihypertensive, including angiotensin-converting enzyme inhibitors, steroids and immunosuppressants, and Omega-3 fatty acids. There was remission of the symptoms and the patient's serum creatinine and sonogram findings returned to baseline. Conclusion: Routine follow-up along with the appropriate use of medications can limit disease complications and progression.

Advancing Analytics of EEG Signals.

Electro Encephalo Graphy (EEG) is a non-invasive diagnostic tool that is widely used in the field of neurosurgery. The EEG measures the electrical activity of the brain, which provides essential information about brain function and can help diagnose various neurological conditions. In neurosurgery, EEG monitors the brain during surgery to ensure that the patient's brain function remains stable and minimize the risk of neurological complications. EEG is also used in the preoperative evaluation of patients who are being considered for brain surgery. This information is critical in helping the neurosurgeon determine the best surgical approach and to minimize the risk of damaging critical brain structures. Additionally, EEG can be used to monitor the brain's recovery after surgery, which can help predict the patient's prognosis and inform the treatment plan.In recent years, the use of EEG has become increasingly sophisticated and has allowed for more precise and detailed monitoring of brain function during surgery. For example, high-resolution EEG techniques can be used to provide real-time information about the activity of specific brain regions. Additionally, developing wearable and portable devices in the future will allow continuous monitoring of brain function, providing real-time data on a patient's condition. In conclusion, EEG is a critical tool in the field of neurosurgery and has dramatically improved the ability of neurosurgeons to diagnose, treat, and monitor patients with neurological conditions. With continued advances in EEG technology, its use in neurosurgery will likely continue to grow and play an increasingly important role in improving patient outcomes.

Primary adrenocortical carcinoma: a case report.

Adrenal tumors are very common, affecting 3-10% of the human population, and most are small, benign, nonfunctional adrenocortical adenomas. Adrenocortical carcinoma (ACC), in contrast, is a very rare disease. The median age of diagnosis is in the fifth to sixth decade. There is a predilection for the female gender (the ratio of female to male ranges from 1.5 to 2.5 : 1) the adult. Case presentation: A 28-year-old man who had no prior history of systemic hypertension or diabetes mellitus presented with bilateral limb swelling for 2 months and facial puffiness for 1 month. He had an episode of hypertensive emergencies. A radiological and hormonal work-up established the diagnosis of primary ACC. One cycle of chemotherapy was given until he lost follow-up and succumbed to death due to financial constraints. Conclusions: Adrenocortical carcinoma is an extremely uncommon tumor of the adrenal gland, and it is even more uncommon when it manifests without any symptoms. If patients exhibit signs of rapid and multiple adrenocortical hormone excess, such as weakness, hypokalaemia, or hypertension, ACC may be suspected. Recently developed gynecomastia in men may be brought on by an ACC producing too much sex hormone. To accurately diagnose the condition and give the patient a fair prognosis, a multidisciplinary approach involving endocrine surgeons, oncologists, radiologists, and internists is advised. Proper genetic counseling is recommended. It is critical to know whether the adrenal mass is malignant or not, and to get this ascertained by a computed tomography finding and biopsy.

Resectability and prognosis of gallbladder cancer: a cross-sectional study of 100 cases from a tertiary care centre of Eastern Nepal.

Gallbladder cancer (GBC) is the fifth most common neoplasm of the digestive tract and has an overall incidence of 3 per 100 000 people. Only 15-47% of the preoperatively known GBC are suitable for resection. The objective of the study was to investigate the resectability and prognosis of GBC patients. Materials and methods: It is a prospective observational study including all cases of primary cancers of the gallbladder in the Department of Surgical Gastroenterology at a tertiary care center over the period from January 2014 to December 2019. The primary endpoint was resectability and overall survival. Results: During the study period, 100 patients with GBC were reported. The mean age at the time of diagnosis was 52.5 years, with a female predominance (67%). The curative intent resection (radical cholecystectomy) was possible in 30 (30%) patients; while 18 (18%) required palliative surgical treatment. The overall survival of the entire group was 9 months; while those patients who underwent surgery with curative intent had a median overall survival of 28 months after a median follow-up of 42 months. Conclusion: This study found that only one-third of patients achieve radical surgery with curative intent. Overall, the prognosis of patients is poor with a median survival of less than a year due to the advanced stage disease. Multimodality treatment, screening ultrasound, and neo-/adjuvant therapy may improve survival.

Superior mesenteric artery syndrome mimicking gastric outlet obstruction: a case report and a literature review.

Superior mesenteric artery (SMA) syndrome, an uncommon cause of intestinal obstruction, may present with clinical features mimicking gastric outlet obstruction. Case presentation: The authors present a case of a 65-year-old gentleman who presented to our institute with complaints of sudden onset abdominal distension and multiple episodes of bilious vomiting for 4 days. On examination, he was cachexic and dehydrated and was diagnosed later with SMA syndrome based on contrast-enhanced computed tomography abdomen findings. Discussion: After the diagnosis of SMA syndrome was made, the patient was planned for the operation. On exploration, a hugely distended stomach dilated first and the second part of the duodenum with SMA compressing the third part of the duodenum was found for which duodenojejunostomy was done. Conclusion: The high degree of suspicion is necessary for cachectic patients presenting with features of gastric outlet obstruction to diagnose SMA syndrome. Physical examination supported by radiological investigations can diagnose SMA syndrome to some extent. Treatment should be focused on relieving obstruction along with fluid and electrolyte resuscitation and nutritional supplementation. Some cases may require surgical correction.

Understanding the Molecular Progression of Chronic Traumatic Encephalopathy in Traumatic Brain Injury, Aging and Neurodegenerative Disease.

Traumatic brain injury (TBI) is one of the leading causes of death and disability among children and adults in America. In addition, the acute morbidity caused by TBI is implicated in the development of devastating neuropsychiatric and neurodegenerative sequela. TBI is associated with the development of a neurodegenerative condition termed 'Punch Drunk syndrome' or 'dementia pugilistica', and the more recently renamed 'chronic traumatic encephalopathy'. Chronic traumatic encephalopathy (CTE) is a slowly progressive neurodegenerative condition caused by a single or repetitive blow to the head. CTE was first described in boxers and was later found to be associated with other contact sports and military combat. It is defined by a constellation of symptoms consisting of mood disorders, cognitive impairment, and memory loss with or without sensorimotor changes. It is also a Tauopathy characterized by the deposition of hyperphosphorylated Tau protein in the form of neurofibrillary tangles, astrocytoma tangles, and abnormal neurites found in clusters around small vessels, typically at the sulcal depths. Oxidative stress, neuroinflammation, and glutaminergic toxicity caused due to the insult play a role in developing this pathology. Additionally, the changes in the brain due to aging also plays an important role in the development of this condition. In this review, we discuss the molecular mechanisms behind the development of CTE, as well as genetic and environmental influences on its pathophysiology.

Large posterior mediastinal ganglioneuroma with intradural cervical spine extension: A rare case report and review of literature.

Introduction: Ganglioneuroma (GN) is a rare benign tumor of ganglion cell origin and can occur anywhere along the sympathetic chain. These tumors can grow to a significant size without any symptoms unless they exert a mass effect on the region they grow and start showing symptoms. Spinal extensions are rare and they may produce neurological symptoms warranting further investigation. Case presentation: We described a case of posterior mediastinal ganglioneuroma in a 4-year-old boy with cervical extension who presented with quadriparesis. The radiological scan revealed large ganglioneuroma having an intradural extramedullary extension with a large posterior mediastinal component compressing and displacing the surrounding structures. He underwent consecutive surgeries for complete excision of the tumor following which he regained his power in his upper and lower limbs over the period of 2 months. Conclusion: Para spinal mass with consistent radiological features suggests ganglioneuroma but confirmation should be done with biopsy. Complete excision of the tumor is the treatment of choice with close follow-up for clinical improvement and recurrence.

Gastric antral vascular ectasia (Watermelon stomach); an unusual cause of upper gastrointestinal bleeding in elderly: A case report.

Introduction: Gastric antral vascular ectasia (GAVE) is an unusual cause of upper gastrointestinal (GI) bleeding in an elderly patient. Case presentation: A 73-year-old female with erosive gastritis, hypertension, and unstable angina arrived at the emergency department with shortness of breath, easy fatigability, and melaena. Physical examination indicated pallor but no signs of distress, with an unremarkable systemic examination. Routine blood testing indicated anemia. The patient underwent upper gastrointestinal endoscopy, which revealed linear red ectatic vessels radiating from the antrum towards the body. A diagnosis of GAVE was made. Blood transfusions and argon plasma coagulation were undertaken. Clinical discussion: This condition is an uncommon cause of upper GI bleeding with the antrum being the most prevalent site. The pathophysiology of GAVE is yet unknown, however, many hypotheses have been postulated. GAVE is frequently misdiagnosed as gastritis. GAVE treatment comprises initial resuscitation and symptomatic treatment with intravenous fluids and blood products. Endoscopy has increasingly been the first-line therapeutic option for GAVE in recent years, including argon plasma coagulation. Conclusion: The diagnosis of gastric antral vascular ectasia is frequently overlooked during upper GI endoscopy, despite the fact that it should always be explored, especially in cases of unexplained GI bleeding in the elderly.

Invasive cutaneous squamous cell carcinoma of scalp: A case report.

Introduction and importance: Cutaneous Squamous cell carcinoma(cSCC) represents approximately 16% of scalp tumors. Overall, cSCC is significantly more common in the oropharyngeal mucosa than the skin. Smoking is a risk factor for mucosal lesions, risk factors for developing cutaneous SCC include age, ultraviolet light exposure, chronic scarring, history of ionizing radiation, androgenetic alopecia (in men), and immunosuppression. The rates of bone invasion in cutaneous SCC have not been well noted in the literature. Case report: We report a case of 57-year-old man with invasive squamous cell carcinoma of scalp with extension into bone, cortex and dura mater. Gross total removal of the tumor with extension of bony defect followed by repair of dura and repair of skin defect by VY advancement flap was done under general anaesthesia. At a 3-month follow-up, his wound is well healed. No evidence of metastasis is noted. Discussion: Cutaneous squamous cell carcinoma (cSCC) is the second most common non-melanoma skin cancer, and its incidence is steadily increasing. Although the majority of cSCCs are successfully eradicated by surgical excision, advanced cSCC poses a significant risk in terms of morbidity, impact on quality of life, and risk of death. Conclusions: Invasive cutaneous squamous cell carcinoma of scalp is a rare entity. Invasion to bone, cortex, and dura mater is furthermore rare. Therefore, proper management of advanced cSCC is of the utmost importance since local invasion, delayed diagnosis, and metastasis contribute to increased costs and morbidity. A multi-disciplinary team approach is recommended.

A rare case of Erdheim-chester disease reported from Nepal.

Introduction: Erdheim-Chester Disease (ECD) is a rare non-Langerhans cell histiocytosis with a propensity to involve multiple organs. Case presentation: We report a case of a patient in mid-60s with occipital headache and ataxia. Following the radiological and immunohistochemical investigations and genomic studies, a diagnosis of ECD was made with two intracerebral lesions. Brain lesions were resected and the patient was discharged with the medication Vemurafenib. After 3 years of diagnosis and 13 years of initial presentation, patient passed away. Discussion: ECD frequently presents with Diabetes Insipidus as initial presentation, long bone osteosclerosis as the most common presentation, and has multi-system predisposition. ECD can be differentiated from Langerhans Cell Histiocytosis (LCH) with immunohistochemistry images of the biopsy specimens. Further, with genomic analysis of ECD, the neoplastic nature has been highlighted and targeted therapies like Vemurafenib and Cobimetinib are shown to be effective. Conclusion: Good clinical judgement and supporting investigations can aid in diagnosing rare entities like ECD even in resource-limited settings.

Von Hippel-Lindau disease: A case report.

INTRODUCTION AND IMPORTANCE: Von Hippel-Lindau (VHL) disease is a rare autosomal dominantly inherited genetic condition. Von Hippel characterized the illness independently in 1911, and Lindau in 1926. Its prevalence is estimated to be about 1 in every 36,000 live births. VHL is characterized by the production of several benign and malignant tumors, as well as cysts in other organs. For proper prognosis, good clinical judgement and timely diagnosis is warranted. CASE PRESENTATION: Herein, we report a case of a 50-year-old man with several central nervous system (CNS) lesions, retinal lesions, and renal cortical cysts with a diagnosis of VHL disease who was surgically treated. At a 3-month follow-up, he improved drastically with a marked alleviation of his signs and symptoms. DISCUSSION: VHL is characterized by the creation of various benign and malignant tumors, as well as cysts in multiple organs, and is passed down through generations in an autosomal dominant pattern with near-complete penetrance. CNS lesions are surgically treated. Regular follow-up should be ensured. CONCLUSIONS: VHL disease is an extremely complicated disease with the need for diagnosis and genetic tests in the patient and family members, as well as intensive supervision of carriers of the mutated gene, thereby improving early diagnosis and successful treatment of the malignancies. The high cost of diagnostics and surgical therapies is a severe issue. Government care and financial assistance are critical considerations.