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Glutaric aciduria type 1 is a rare autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine, and L-tryptophan. It is an inherited organic acidemia characterized by macrocephaly and dystonia, which results in high morbidity and mortality. In resource-limited countries like Nepal, where enzyme assays are not available, MRI has a great role to play in supporting diagnosis in such situations. Here, we present 2 cases of glutaric aciduria type 1 in brothers from the same parent that were diagnosed by MRI, and subsequent diet modification and L-carnitine therapy led to improvement of clinical symptoms.
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Introduction and importance: Cytarabine, a pyrimidine analogue, is commonly used to treat multiple haematological conditions, such as acute leukaemias and lymphomas. One of the rare and less reported complications of cytarabine is peripheral neuropathy, in which peripheral nerves are damaged, often causing weakness, numbness, and pain, usually in the hands and feet. Case presentation: The authors report the case of a 17-year-old male who developed a gradual onset of weakness and sensory loss in all four limbs during treatment with a conventional dose of cytarabine for acute myeloid leukaemia. Cytarabine was discontinued after the development of symptoms, and his motor and sensory functions gradually improved over the course of 3 months. Clinical discussion: Alongside some well-known side effects of cytarabine, including bone marrow suppression, cerebellar syndrome, and cardiotoxicity, peripheral neuropathy is one of the uncommon side effects of cytarabine. Diagnosis includes identifying and grading the severity of chemotherapy-induced peripheral neuropathy (CIPN) through clinical assessment and nerve conduction studies. Management includes withdrawing the chemotherapeutic agent and supportive treatment with drugs such as duloxetine. Recent studies also favour the use of acupuncture and sensorimotor-based exercise intervention for the management of CIPN. Methods: This case report has been prepared in line with the SCARE 2023 criteria. Conclusion: Although rare, even a conventional dosage of cytarabine can cause peripheral neuropathy, and routine neuromuscular examinations can help in the early diagnosis and intervention to limit further progression and reverse the course of the disease.
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Method validation is an essential technique for ensuring the reliability and accuracy of an analytical method. This study aimed to optimize and validate a fast, reliable, and accurate method for quantitatively determining pesticide residues of diverse chemical classes in the tomato matrix. Various method performance characteristics were tested and compared with predefined criteria. Twenty-six different pesticides of diverse chemical classes were selected based on their use in tomato cultivation and the availability of reference materials. The pesticide residues in tomato samples were extracted with the QuEChERS technique with some modifications, followed by injection into an LC-MS/MS system operating in an optimized method. The validated method demonstrated reasonable specificity, as there were no interferences from matrix components at the retention times of pesticides. The calibration curves for all pesticides exhibited excellent linearities, with correlation coefficients exceeding 0.99. No significant matrix effect was observed for all pesticides in tomatoes, as the values fell within the range of ±20%. All pesticides were quantified successfully at a concentration of 5 µg/kg except for carbaryl, with an average recovery of more than 70% and a relative standard deviation of less than 20%. Similarly, measurement uncertainties were also estimated based on the validation data, and the values were found below the default limit of 50%. Subsequently, the validated method was applied to analyze 52 locally collected tomato samples. Study findings revealed that only four of the studied pesticides were detected in these samples, and their concentrations were below the maximum residue limits (500 µg/kg each for carbendazim, imidacloprid, and metalaxyl) established for tomatoes by the Government of Nepal and the Codex Alimentarius Commission.
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Introduction and importance: Primary biliary cholangitis (PBC) is a rare immune-mediated liver disease characterized by the destruction of intrahepatic bile ducts and a positive antimitochondrial antibody (AMA), which is considered a serological hallmark for the diagnosis. Rarely, AMA can be absent/nondetectable in a few cases and is referred to as 'AMA-negative'. Case presentation: The authors present such an uncommon case of AMA-negative PBC in a 39-year-female with Sjogren's syndrome who presented with fatigue, pruritus, and dry eyes. Clinical discussion: Previously published studies state that approximately only about 5% of patients with PBC are 'AMA-negative'. For patients negative for AMA, the diagnosis has to be based on typical pathological features of this disease. Once a diagnosis of PBC is established, regardless of whether it is positive or negative for AMAs, ursodeoxycholic acid is a widely accepted treatment. Conclusion: The presence/absence of AMAs is associated with similar clinical, biochemical, and histopathological characteristics in PBC. The identification of AMAs alone should not impact the diagnosis or treatment of PBC.
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Introduction and importance: Aluminum phosphide (ALP) is a commonly used suicidal agent in an agrarian country like Nepal. The unmasking of the Brugada pattern in the electrocardiogram (ECG) associated with ALP poisoning is a rare phenomenon, and studies pertaining to it are scarce in the medical literature. Case presentation: An 18-year-old female presented to the emergency department with multiple episodes of vomiting, headache, blurring of vision, and abdominal pain after 4 h of consumption of ALP with suicidal intent. A 12-lead ECG revealed a coved ST-segment elevation and T-wave inversion in leads V1-V3 with right bundle branch block suggestive of a type 1 Brugada pattern. Her past medical and family history was not significant. The patient made an uneventful recovery with the required supportive treatments. Clinical discussion: Cardiac arrhythmias are the major cause of death in ALP poisoning. Unmasking of the Brugada ECG pattern is a rare but potentially fatal complication implicated in various pharmacological toxicities, including tricyclic antidepressants, cocaine, procainamide, disopyramide, flecainide, and rarely with ALP. Conclusions: ALP poisoning can unmask the Brugada ECG pattern, which can lead to ventricular fibrillation and/or sudden cardiac death.
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Background: Rhino-orbital-cerebral mucormycosis (ROCM) is a life-threatening condition caused by a saprophytic fungus that predominately affecting immune-compromised patients. Early diagnosis of ROCM is of utmost importance to start the treatment as early as possible to prevent early and horrible complications of the disease. Materials and methods: This retrospective study evaluated the imaging findings of 21 patients with biopsy and KOH mount-based evidence of invasive ROCM. The imaging was obtained from a Siemens Magnetom Amira 1.5T system with a strength of 1.5T or more. The spectrum of findings was evaluated for the sites of involvement, signal intensity, contrast characteristics, necrotic component as well as orbital, infratemporal, and intracranial extensions, especially cavernous sinuses, Meckel's cave, and the brain parenchyma. Results: The mean age of the patients was 55.8±10.9 years and included 71% male. All the patients were positive for COVID-19 and the majority were diabetic. MRI showed predominant involvement of the maxillary sinus (17, 81%) and the ethmoidal sinus (15, 71.4%). The orbital extension was present in 18 cases (86%). T1-weighted imaging showed iso to low signal intensity in involved sinuses in the majority of the patients (9, 42.9%). Heterogeneously high signal intensity was observed in T2-weighted and short tau inversion recovery images in all the patients. Heterogenous contrast enhancement was present in 20 (95.2%) patients. Conclusion: The imaging spectrum of ROCM is variable. Multiplanar MRI with postcontrast images is a very useful complementary tool to the clinical evaluation to assess the extent of disease and its complications, which has a high mortality. Clinicians and radiologists should be aware of the imaging spectrums of ROCM.
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Extragonadal parasitic dermoid cysts are rare. Diagnosis of such extragonadal parasitic teratoma is often done intraoperatively during surgical exploration of abdominal mass.
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Bone metastasis of hepatocellular carcinoma (HCC) is usually seen in the course of advanced intrahepatic HCC. Isolated bone metastasis as an initial manifestation of HCC is uncommon. Case presentation: The authors report a case of a 68-year-old male with a history of chronic alcohol consumption who presented with epigastric pain, abdominal distension, and a hard, tender lump on the right posterolateral aspect of his back. Investigation revealed HCC with isolated metastasis to the posterior thoracic wall. Clinical discussion: HCC usually develops secondary to chronic hepatitis B and C infection in the background of chronic liver disease. Common presenting symptoms of bone metastasis include local pain, neurological manifestations, palpable subcutaneous masses, and pathological fractures. An immunohistochemistry analysis is important to differentiate HCC from non-HCC metastasis in patients without known underlying HCC. Treatment is often directed towards palliative care as the prognosis is poor. Conclusion: An isolated rib mass can be an initial presentation of metastatic HCC. Thus, HCC with bone metastasis should be considered in the differential diagnosis in patients presenting with painful swelling in the thoracic region.
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Kharel, Sanjeev, Suraj Shrestha, Samriddha Raj Pant, Suman Acharya, Amit Sharma, Santosh Baniya, and Sanjeeb S. Bhandari. High-altitude exposure and cerebral venous thrombosis: an updated systematic review. High Alt Med Biol. 24:167-174, 2023. Background: High altitude (HA) may increase the risk of cerebral venous thrombosis (CVT). Differentiating it from other HA illnesses is crucial for prompt treatment and better outcomes. We aimed to summarize the clinical data, etiology, and risk factors of this poorly understood entity at an HA. Materials and Methods: A systematic literature search of various databases, including PubMed, Embase, and Google Scholar, was done using relevant keywords; cerebral venous thrombosis; HA, up to May 1, 2022. Results: A total of nine studies, including 75 cases of CVT at HA (3,000-8,848 m), with 66 males and 9 females, were included in this review. Headache and seizure were the most common clinical presentations. Smoking, drinking habits, and the use of oral contraceptive pills (OCP) were the most common risk factors for the development of CVT. Similarly, various underlying hypercoagulable states were also present among cases of CVT associated with HA exposure. Conclusion: Our review concludes that HA exposure can predispose individuals with risk factors such as preexisting hypercoagulable states, smoking, drinking habits, and use of OCP to an increased risk of CVT.
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Doença da Altitude , Trombose Venosa , Feminino , Masculino , Humanos , Altitude , Fatores de Risco , Fumar , Doença da Altitude/complicações , Trombose Venosa/etiologiaRESUMO
INTRODUCTION AND IMPORTANCE: An obturator hernia is a rare cause of bowel obstruction. Due to its narrow passage in the obturator canal, these are more susceptible to becoming incarcerated and subsequently strangulated. Due to its challenging detection, obturator hernia is often diagnosed late. CASE PRESENTATION: A 75-year-old thin-built female with COPD presented to the emergency room with symptoms of abdominal obstruction. Abdominal examination revealed distension, firmness, rigidity, and tenderness with no bowel sounds. An erect abdominal X-ray showed multiple air-fluid levels, indicating an acute abdomen due to intestinal obstruction. Emergency exploratory laparotomy revealed an obturator hernia with strangulated ileum and perforation, necessitating resection and double barrel ileostomy. Unfortunately, despite all medical interventions, the patient succumbed to hospital-acquired pneumonia following the surgery. DISCUSSION: Obturator hernia, known as 'the skinny old woman hernia,' is rarely externally visible or palpable, leading to frequent undiagnosed cases. It presents with bowel obstruction or perforation and carries the highest morbidity among abdominal hernias. Timely intervention is crucial to prevent complications like bowel strangulation. CONCLUSION: This case report highlights the challenges of diagnosing and managing obturator hernia, a rare condition with significant morbidity. Early detection through imaging or operative findings is crucial to prevent complications like bowel strangulation, especially in older women at higher risk.
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Orogastric and nasogastric tubes are common methods of enteral feeding. Although the methods of tube feeding are simple, these methods are not free of complications. Case presentation: This case report describes a 58-year-old patient with the diagnosis of stroke, in whom there was breakage of an orogastric tube during a prolonged ICU stay. Clinical discussion: Early enteral feeding in patients without any contraindications is associated with improved organ survival and recovery, and decreased incidence of infections, which decreases the ICU stay and improves the overall outcome. Nasogastric and orogastric tubes are the most commonly inserted feeding tubes. Breakage of an orogastric tube is a rare complication that can occur due to manufacturing defects, exposure to a harsh acidic environment, and forceful flushing of an obstructed tube. Conclusions: Timely identification of the broken feeding tube can help the treating clinicians retrieve it easily even with the help of a laryngoscope in selected patients.
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Isolated mesenteric vein thrombosis associated with Fusobacterium is rare. Physicians should be aware regarding the association of Fusobacterium with thrombosis at various sites.
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Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome also known as the Herlyn-Werner-Wunderlich Syndrome is a rare embryological disorder associated with Mullerian and mesonephric duct abnormality. Case presentation: The cases presented describe the imaging (ultrasound and MRI) findings of four young females who presented with dysmenorrhea and urinary complaints. All of them had solitary kidneys with a didelphic uterus and unilateral hematometrocolpos. A proximally blind-ending ureter with distal ectopic insertion, transverse vaginal septum, and left-sided endometrioma was seen. Clinical discussion: OHVIRA syndrome is associated with duplicated uterovaginal structure with OHVIRA. Ultrasound is the first line of investigation; however, MRI better delineates the anatomy and assists in preoperative planning. Conclusion: This report highlights that earlier clinical suspicion and imaging diagnosis of OHVIRA is crucial to prevent adverse outcomes and treating complications.
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Paroxysmal nocturnal hemoglobinuria (PNH) results from a mutation in the phosphatidylinositol glycan class-A gene which causes uncontrolled complement activation with resultant intravascular hemolysis and its sequelae. Eculizumab is a terminal complement inhibitor that blocks this complement activation and has revolutionized the treatment of PNH but comes with an enormous price which can have catastrophic health expenditure in low-middle income countries (LMIC) like Nepal. Here, we discuss the potential way forwards in the treatment of PNH in Nepal and other LMICs.
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Hemoglobinúria Paroxística , Humanos , Hemoglobinúria Paroxística/tratamento farmacológico , Gastos em Saúde , Nepal , Anticorpos Monoclonais Humanizados/uso terapêuticoRESUMO
Organizing pneumonia (OP) is one of the rare pulmonary manifestations of systemic lupus erythematosus (SLE) which is infrequently reported as a presenting manifestation. Early diagnosis of lupus-related OP with the help of imaging, can drive to prompt initiation of immunosuppressive therapy leading to a better prognosis. We present a case of a 34-year-old young male who presented with fever, myalgia, and a dry cough for 1 month and was later diagnosed as SLE-related organizing pneumonia.
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Painful tonic spasms initially described in association with multiple sclerosis are actually more common in patients with neuromyelitis optica spectrum disorder. Characterized by fierce pain and tonic posture of limbs, painful tonic spasms are common in patients during the recovery phase after the first episode of myelitis. A 68-year-old man presented with painful tonic spasm after 2 months of diagnosis of neuromyelitis optica spectrum disorder. Eventual use of eslicarbazepine resulted in significant control of spasms. Early recognition of painful tonic spasms and appropriate therapeutic medications can significantly decrease the impact it can have on the quality of life among neuromyelitis optica spectrum disorder patients.
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Azathioprine (AZA) used as an immunomodulator agent in the management of inflammatory bowel disease (IBD) increases the risk of the development of lymphoma. Case presentation: We present a case of a 45-year-old female receiving AZA for severe ulcerative colitis for 4 years. She presented with the chief complaints of bloody stool and abdominal pain for 1 month. Through a series of investigations including colonoscopy, contrast-enhanced computed tomography scan of the abdomen and pelvis, and biopsy with immunohistochemistry; she was diagnosed to have diffuse large B-cell lymphoma of the rectum. She is currently on a chemotherapeutic regimen and is planned for surgical resection after the completion of neoadjuvant therapy. Clinical discussion: AZA is classified as a carcinogen by the International Agency for Research on Cancer. Prolonged exposure to higher doses of AZA increases the risk of developing lymphoma in IBD. Previous meta-analysis and research indicate that the risk of development of lymphoma after the use of AZA in IBD increases by about four- to six-fold, especially in older age groups. Conclusions: AZA may increase the susceptibility to developing lymphoma in IBD, but the benefit far outweighs the risk. Precautions must be taken in prescribing AZA in older individuals which mandates periodic screening.
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Background: Contemporaneous acute myocardial infarction (AMI) and acute ischemic stroke (AIS), termed cardio-cerebral infarction (CCI), is a rare medical emergency. The effectual management of this situation is exigent since early management of one condition will inevitably delay the other. Case Presentation. A 60-year-old woman presented to our hospital with concurrent AMI of the inferior left ventricular wall, complicated by cardiogenic shock and transient complete heart block, and AIS of more than 4.5 hour duration. The cerebral computerized tomography angiography revealed a right-sided terminal internal carotid artery (ICA) occlusion, and the coronary angiogram depicted double vessel disease with a culprit lesion in the right coronary artery (RCA). The patient underwent mechanical thrombectomy for the ICA occlusion by an interventional neuroradiologist followed by the primary percutaneous coronary intervention of the culprit RCA by the interventional cardiologists in the same setting. Conclusion: A patient with concurrent AMI and AIS is a challenging situation to treat in the emergency department, and the treatment must be individualized for each patient.
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Osmotic demyelination syndrome (ODS) as a result of the hyperosmolar hyperglycemic state is rare and can present with variable neurological manifestation due to lysis of myelin sheath. Case presentation: A 44-year diabetic male presented with complaints of sudden onset, progressive bilateral weakness in lower limbs, and slurring of speech for the past 1.5 months. Cerebellar examination showed a bilaterally impaired finger nose test, dysdiadochokinesia, impaired heel shin test, and an impaired tandem gait. MRI brain (T2 and fluid-attenuated inversion recovery sequences) showed high signal intensity in the central pons and bilateral cerebellum. With a diagnosis of ODS with poorly controlled diabetes, he was treated with insulin, metformin, and supportive measures following which his symptoms subsided gradually. Clinical discussion: A rapid correction of hyponatremia is considered the most common cause of ODS. Variations in plasma glucose levels, a rare cause of ODS, can cause an abrupt osmolality change causing pontine and extrapontine myelinolysis. Prevention of rapid correction of hyponatremia and rapid changes in plasma osmolality in vulnerable patients is the mainstay of treatment. Conclusions: Clinical features, imaging studies, and monitoring of serum osmolality, serum glucose, and electrolytes aid in diagnosis and favorable outcomes for the patient.