Diagnosis

Sudden Cardiac Death in a Neonate Due to Bilateral Absence of Coronary Artery Ostium

Published on: 24th July, 2023

Introduction: Congenital heart disease is a leading cause of neonatal mortality linked to birth defects. Despite the widespread availability of prenatal screenings, detection rates remain low. Accurate early detection of these lesions is pivotal to reducing neonatal morbidity and mortality.Methods: In this case, we present a neonate who experienced sudden cardiac death due to a rare, undiagnosed congenital cardiac anomaly - the bilateral absence of coronary artery ostium. Discussion: This case highlights the importance of prenatal detection of congenital cardiac anomalies. While fetal echocardiography is frequently utilized, it only identifies CHD in 36-50% of cases. This is attributed to inadequate imaging procedures, varied operator skills, and regional discrepancies. Early detection of severe CHD is essential for specialized treatment, thereby mitigating neonatal health risks and improving survival rates.Conclusion: Prenatal detection of CHD, especially coronary anomalies, continues to pose significant challenges. There is a pressing need to establish and enforce standardized protocols for fetal echocardiography aimed at these anomalies. To enhance care and improve outcomes, a joint effort between academic institutions and community centers is encouraged.Learning Objectives: •    Congenital coronary artery anomalies are a significant cause of sudden cardiac death in children.•    The absence of a coronary artery ostium is known to be associated with other congenital heart diseases, particularly pulmonary atresia with an intact ventricular septum. However, isolated coronary disease has also been reported in this case.•    Prenatal echocardiography is a valuable tool for diagnosing congenital heart disease. However, certain limitations may be encountered when diagnosing coronary artery anomalies.
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Psychosis in Parkinson’s Disease and Current Management Trends- an Updated Review of Literature

Published on: 26th July, 2023

As a neurodegenerative disorder, Parkinson’s disease (PD) is characterized by a combination of premotor, motor, and nonmotor symptoms. PD is commonly accompanied by psychosis, which is one of the commonest symptoms in the long run. As a result of Parkinson’s disease psychosis (PDP), symptoms can range from minor consequences of the disease (illusions, passage hallucinations, and presence hallucinations), to visual and nonvisual hallucinations and delusions. PDP is associated with a reduction in function and a reduction in quality of life as well. It is commonly believed that PDP is related to economic burden, and it has a significant impact on the utilization of long-term care services. The main focus should be on diagnosing, classifying, and managing PDP in an appropriate manner. As a first step in the management of PDP patients, the emphasis should be on identifying and treating any contributing medical factors, reducing or discontinuing medications that could cause or worsen psychosis, as well as nonpharmacological strategies and considering acetylcholinesterase inhibitors for treatment when dementia is present. A number of medications are being considered for use in PDP, including pimavanserin, quetiapine, and clozapine. The purpose of the current review is to provide a comprehensive understanding of the disorder in the general population with PD, including epidemiology, psychotic symptoms, risk factors, triggers, neuro-signaling pathways, diagnosis, and treatment of PDP.
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Myxedema Coma and Acute Respiratory Failure in a Young Child: A Case Report

Published on: 26th July, 2023

Background: Myxedema is an extreme manifestation seen in patients with untreated hypothyroidism. It is a lethal endocrine emergency, which arises when a precipitating cause overwhelms the compensatory mechanisms of the hypothyroid state.Objectives: This case report aims to present a case of myxedema coma secondary to cretinism. It also aims to discuss how hypothyroidism leads to hypoventilation and eventually respiratory failure, as well as to discuss the epidemiology, pathophysiology, clinical manifestation, diagnosis, and management of a child with myxedema coma.Case presentation: This is a case of a 7-year-old female, diagnosed with congenital hypothyroidism at 5 months of age, but eventually was lost to follow-up. She came back after 7 years presenting with difficulty of breathing. She was seen hypothermic, obtunded, and in severe respiratory distress. She was severely stunted and underweight with coarse facial features. Initial laboratory work-up showed elevated Thyroid Stimulating Hormone (TSH) as well as decreased tri-iodothyronine (FT3) and thyroxine (FT4). She was immediately started on levothyroxine, with noted resolution of the edema and improvement in sensorium. There was also noted improvement in the patient’s ventilation and was sent home on Continuous Positive Airway Pressure (CPAP) while asleep.Conclusion: This case highlights the importance of having a high index of suspicion of its clinical manifestations, which could lead to earlier intervention thereby preventing further complications. A multidimensional approach is essential in managing this case, as various organ systems are involved in this condition.
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Role of RBC Parameters to Differentiate between Iron Deficiency Anemia and Anemia of Chronic Diseases

Published on: 27th July, 2023

Introduction: In the present study we evaluated and compared RBC parameters, iron status, and ferritin for discriminating between patients with iron deficiency anemia and anemia of chronic disease. Anemia that accompanies infection, inflammation, and cancer, is commonly termed anemia of chronic disease (ACD). Methods: We compared the ability of serum ferritin concentration, using the microplate immunoenzymometric assay method with other, more traditional indicators of iron status like total iron binding capacity [TIBC], mean corpuscular volume [MCV], percent transferrin saturation [%TS], RBC distribution width [RDW], and serum iron concentration [SIC]. The ferritin concentration was determined in 80 serum samples selected from men and women above the age of 18 years. The patients were assigned to IDA and ACD groups based on serum ferritin concentration.Observation: By studying the ROC Curve for various red cell parameters for the diagnosis of IDA and ACD, we found that diagnostic accuracy of various indicators was as follows TIBC>TS%>MCV>MCH>SI>MCHC for anemia of chronic diseases, and TIBC>MCH>MCV>MCHC>TS%>SI for iron deficiency anemia. When both the value of AUCs (Area under Curve) of ROC were compared it is apparent that TIBC, TS%, MCV, and MCH are important discriminating factors between IDA and ACD. Conclusion: Conventional laboratory parameters play an important role in distinguishing overt causes of IDA and ACD. MCV, MCH, and TIBC were found to be (p -value < .05) significantly discriminated against IDA and ACD. Serum ferritin is an important diagnostic tool with reasonable accuracy for the detection and differentiation of iron deficiency anemia and anemia of chronic disease.
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Rare Presentation of Chromoblastomycosis Due to Multiple Simultaneous Inoculations: A Case Report

Published on: 7th August, 2023

Chronic infectious, granulomatous and suppurative dermatosis, classified among the subcutaneous mycoses, prevalent in tropical and subtropical regions and caused by the traumatic implantation of dematiaceous fungal species, where the presence of muriform bodies is an expression of the causal agent in the grafted tissue, are characteristic of chromoblastomycosis. Considered the second implantation mycosis in the world, it manifests itself with slow and progressive growth lesions of exophytic and verrucous plaques and black dots on the surface.The disease is considered a neglected and occupational disease, which occurs mainly among agricultural workers, coconut and babassu harvesters, lumberjacks, and traders of agricultural products. It is important to highlight that people at risk of contracting chromoblastomycosis work in tropical countries, where the temperature can be above 40 °C in summer, and generally refuse to wear protective equipment during the day (shoes, gloves, clothes, etc.), although they know that this type of prophylactic measure can prevent different types of diseases. These vulnerable people often live in low-income countries and sometimes live far from medical services and, once infected, do not seek medical attention. We report below an exuberant and unusual case due to multiple simultaneous inoculations on the back after the patient suffered an accidental fall while working on his farm. The diagnosis was established by direct mycological examination, histopathological examination, culture, microculture, and MALDI-TOF MS analysis that identified the agent of the Fonsecaea pedrosoi.
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Diagnostic Challenge of Gitelman Syndrome: A Rare but Significant Cause of Electrolyte Imbalance

Published on: 1st August, 2023

Objective: This case study presents a young female patient diagnosed with symptomatic electrolyte disturbances, later confirmed as Gitelman syndrome (GS). It highlights the underlying pathophysiology and emphasizes the importance of its proper management. Background: GS is a rare genetic disorder affecting kidney electrolyte reabsorption, leading to symptoms like weakness, muscle cramps, fatigue, nausea, and vomiting. Diagnosis involves lab tests and genetic confirmation, with treatment comprising electrolyte supplementation and medications. Ongoing management is vital to prevent complications. Case presentation: A 23-year-old Caucasian female presented to the ED with sudden weakness in all extremities, thirst, and lightheadedness. Lab results showed hyperglycemia 166 (70-100 mg/dL),severe hypokalemia 1.1 (3.6-5.1 mmol/L), mild hypercalcemia 11 (8.9-10.4 mg/dL), and severe hypophosphatemia 0.6 (2.3-7.0 mg/dL). Incidentally, she had prior hypokalemia history from a motor accident hospitalization and managed it with KCl for a year but stopped when symptoms improved. She was treated with electrolyte replacement and discharged with oral potassium. Five days later, she returned with severe hypokalemia 1.3, mild hypercalcemia 10.7, and severe hypophosphatemia 0.6. A 24-hour urinary test showed distal convoluted tubulopathy indicative of GS. She was treated with replacement therapy and spironolactone, with instructions for ongoing supplementation and follow-up with a nephrologist. Discussion: GS is mostly caused by mutations in the SLC12A3 gene, affecting the kidneys’ sodium chloride cotransporter function, as confirmed in our patient. Conclusion: While GS has no cure, appropriate treatment with medication and dietary adjustments can enhance patients’ quality of life by maintaining electrolyte balance. Healthcare providers’ awareness is crucial for effective care and complication prevention.
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New Onset Seizures in a Child Taking 0.01% Atropine Drops

Published on: 17th August, 2023

Introduction: Myopia is a refractive disorder commonly diagnosed in childhood that follows a progressive course. It is considered a global epidemic with nearly 23% of the world’s population being diagnosed with this condition. Moreover, myopia is increasing in prevalence worldwide, demonstrated by studies in Asian and Western populations. This has important implications as myopic progression to high myopia is associated with significant morbidity and visual disability if left untreated. Of these treatments, the pharmacologic agent atropine has demonstrated the greatest efficacy in reducing myopia progression.Case report: This is a case report of an 11-year-old male treated with 0.01% atropine drops for myopia progression that developed new-onset seizures. The seizures were characterized as benign epilepsy with central temporal spikes and ceased when drops were discontinued. Discussion: Atropine 1% drops have previously been associated with new or increased seizure activity in a handful of case reports, however, it is our knowledge that this is the first report associated with 0.01% drops. This is important given the growing use of 0.01% drops as well as higher concentrations such as 0.025 % and 0.05% for the treatment of pediatric myopia. Conclusion: While it cannot be proven that the drops were causative in the seizure events, it is important to consider prior seizures as a relative contraindication to the use of these drops.  Atropine has the potential to exacerbate seizure activity, so it is possible that the 0.01% atropine drops played a role in the patient’s seizures. Also, any diagnosis of new-onset seizures in pediatric patients should prompt discontinuation of drops at seizure onset.
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Cardiac Tamponade as the Cause of Pulmonary Edema: Case Report

Published on: 17th August, 2023

Introduction: Cardiac tamponade is an emergency syndrome that requires fast diagnosis and treatment; otherwise patient follows obstructive shock and cardiac arrest. Case report: A 70-year-old female was brought to the emergency department with hypoxemia. She had a history of progressive dyspnea over the past three weeks. Past medical history includes smoking. On physical examination: tachypnea, hypoxemia (SaO2 89%), jugular venous distention, arterial pressure 220/100 mmHg, heart rate rhythmic of 82 bpm. On pulmonary auscultation: diffuse and bilateral crackles. Lung ultrasound showed a bilateral B line and the echocardiogram demonstrated a pericardial effusion with signs of tamponade. A pericardiocentesis evacuated 620 ml of hemorrhagic fluid and the patient was transferred to the intensive care unit, hemodynamically stable, with SaO2 95%. At the ICU the echocardiogram, showed resolution of the cardiac tamponade and a tumor adhered to the lateral wall of the left ventricle. Chest CT demonstrated: a left lung tumor, infiltrating the pericardial sac. A pericardium biopsy demonstrated undifferentiated carcinoma. Discussion: Cardiac tamponade diagnosis requires a high level of suspicion. Respiratory failure, chest pain, and shock, observed in cardiac tamponade, are also present in different diseases. The most common finding of cardiac tamponade is dyspnea (78% of cases). Our patient had dyspnea due to pulmonary edema, secondary to left ventricle diastolic dysfunction caused by the tamponade. A bedside echocardiogram made the diagnosis of cardiac tamponade and guided the effective pericardiocentesis. Conclusion: Cardiac tamponade must be suspected in all cases of acute dyspnea. Echocardiogram is the method of choice for the diagnosis and for guiding the pericardiocentesis.
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Update in the Understanding, Diagnosis, and Management of Sturge Weber Syndrome: Case Report

Published on: 24th August, 2023

Sturge-Weber Syndrome (SWS) is a congenital, vascular, neurocutaneous, uncommon disease associated with facial angiomas port wine birthmark (PWB) or “nevus flammeus”, cerebral vascularity alterations (leptomeningeal vascular malformation), and ocular disorders. It is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis. GNAQ R183Q is the most frequent related mutation, caused by a postzygotic, somatic, gain-of-function. 75% of patients present seizures during the first year of life, mainly focal motor seizures, with or without consciousness impairment.We present the case of a 33-year-old female with a diagnosis of SWS, with refractory seizures that started at 4 months of age. In this admission, she presented upper and lower respiratory tract infections that culminated in a convulsive status epilepticus (CSE), the reason for which she required sedation and advanced airway management with adjustment of the anti-seizure medication (ASM). An electroencephalogram (EEG) was performed that reported epileptic activity, as well as an imaging study with data suggestive of calcification in the frontal and right parietal region, compatible with vascular malformation.
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Pneumopericardium: A Rare Complication of Antireflux Surgery

Published on: 23rd August, 2023

Pneumopericardium is a rare clinical entity, occurring in the setting of thoracic trauma, malignancies, or mechanical ventilation. Very few cases report pneumopericardium as a complication of gastrointestinal tract surgery. Signs and symptoms may be frustrating, ranging from asymptomatic to chest pain, sepsis, hemodynamic instability, pericarditis, or even cardiac tamponade. Clinical pathognomonic signs of pneumopericardium include pericardial metallic tinkling friction rub and mill wheel murmur. Diagnostic work-up includes electrocardiogram, chest radiography, and, computed tomography imaging. A gastro pericardial fistula should be considered a rare differential diagnosis for acute chest pain in patients with a history of gastroesophageal surgery. Rapid recognition and treatment avoid life-threatening complications. The successful outcome of gastro pericardial fistula treatment depends on both emergency and definitive surgical management. The survival rate with conservative management is poor.We present the case of a 78-year-old patient suffering from pneumopericardium and pericardial infusion, due to a fibrotic fistula between the Nissen’s valve, occurring 10 years after redo antireflux surgery. Treatment included broad-spectrum antibiotics, and emergency surgery for pericardial drainage, biopsy of the valve’s defect, suture, and omentoplasty.
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CT-guided Retrograde Urography as a Diagnostic Tool for Post-kidney Transplantation Evaluation: A Case Report

Published on: 4th September, 2023

The vast majority of urological complications occur at the ureterovesical junction and usually occur early after transplantation. The aim of this study is to enhance the quality of medical care provided to patients who undergo kidney transplantation. Cystography was conducted on renal transplant recipients utilizing computed tomography. The utilization of changes in the patient’s position and reconstructed images of the bladder can serve as a diagnostic tool to assess the normal functioning of the urinary tract system subsequent to kidney transplantation. To ensure adequate filling of the bladder and ureter, it is necessary to introduce varying amounts of contrast medium through the urinary catheter into these structures. This diagnostic procedure aims to verify the existence of stenosis or leakage occurring at the vesicoureteral junction. The evaluation and diagnosis of urinary tract problems subsequent to kidney transplantation can be effectively conducted. Furthermore, it has the potential to mitigate the adverse effects and alleviate the strain on the renal system resulting from the administration of contrast agents in computed tomography urography. CT-guided cystography can enhance the medical quality and comfort of Kidney transplantation patients.
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Hypersexual Disorder: A Comprehensive Review of Conceptualization, Etiology, Assessment and Treatment

Published on: 6th September, 2023

Hypersexual disorder, also known as compulsive sexual behavior or sex addiction, is a complex and clinically significant condition characterized by intense and recurrent sexual fantasies, urges, or behaviors that significantly disrupt an individual’s daily life and overall well-being. Despite its importance, hypersexual disorder remains a controversial and debated topic, lacking standardized diagnostic criteria in major classification systems.This review paper provides a comprehensive examination of hypersexual disorder, encompassing its definition, conceptualization, etiology, co-occurring conditions, effects on mental and physical health, assessment, treatment approaches, cultural and ethical considerations, and future research directions. By synthesizing information from existing literature and research, this review aims to deepen our understanding of hypersexual disorder and contribute to the development of evidence-based interventions.The review begins by exploring the evolution of the term “hypersexual disorder” and its current status in diagnostic classifications. It then delves into the potential etiological factors contributing to the development of hypersexual behaviors, including neurobiological, genetic, and psychosocial factors.Furthermore, the review discusses the common comorbidities associated with hypersexual disorder, emphasizing the importance of addressing co-occurring mental health conditions in treatment planning. The psychological and physiological effects of hypersexual behaviors on affected individuals are examined, underscoring the urgency of early intervention and comprehensive treatment.The assessment and diagnosis of hypersexual disorder are thoroughly examined, considering the challenges and methodologies involved in identifying and evaluating affected individuals. Cultural and ethical considerations are highlighted, stressing the significance of providing culturally sensitive and ethical care to diverse populations.In the context of treatment, the review discusses various therapeutic approaches, including psychotherapy, medication, support groups, and harm-reduction strategies. The need for evidence-based treatments tailored to hypersexual disorder is underscored while recognizing the challenges of developing standardized protocols in this evolving field.Finally, future research directions are outlined, focusing on the standardization of diagnostic criteria, prevalence studies, neurobiological investigations, and the integration of cultural competency in treatment approaches.In conclusion, this review paper aims to contribute to a comprehensive understanding of hypersexual disorder and its implications for affected individuals and society. By exploring the multifaceted aspects of the condition, this review seeks to provide insights into effective treatment approaches and inspire further research in the study of hypersexual disorder.
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Deep Venous Thrombosis as the Clinical Expression of POEMS Syndrome

Published on: 6th September, 2023

This case suggests that POEMS syndrome does present with a constellation of signs and symptoms that may lead a clinician to a multitude of other possible diagnoses. Diagnosis is often difficult and delayed. A good history and physical examination as well as a careful review of all workups are paramount in establishing this particular diagnosis. The major criteria of diagnostic for the syndrome are polyradiculoneuropathy, clonal plasma disorder, sclerotic bone lesions, the presence of Castleman disease, and elevated vascular endothelial growth factor. Minor features include organomegaly, extravascular volume overload, endocrinopathy, characteristic skin changes, papilledema, and thrombocytosis. The diagnosis is made with three of the major criteria, two of which must include polyradiculoneuropathy and clonal plasma cell disorder, and at least one of the minor criteria. In this article, we discuss the differential diagnosis and outline the clinical evaluation indicated.
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Case Report of a Child with Beta Thalassemia Major in a Tribal Region of India

Published on: 8th September, 2023

Introduction: Thalassemia is an inherited blood disorder of haemoglobin (Hb) synthesis, which affects different regions around the world. India has the largest number of children with beta-thalassemia major in the world, particularly in the tribal population. Heterozygous conditions are milder and even go unreported than the condition of homozygous where regular blood transfusion is required.Case report: This report focuses on a case of major beta-thalassemia in a child, whose parents are beta thalassemia minor to intermediate conditions, and who was treated by blood transfusion once a month. However, Thalassemia may be cured by allogeneic hematopoietic stem cell transplantation, although not everyone is a good candidate. Genetic counselling, prenatal diagnosis, and selective termination of affected fetuses are effective ways to control thalassemia.Discussion and conclusion: The paper reports a unique case of Thalassemia in rural India. The blood disorder while commonly presented in a juvenile whose parents were Thalassemia positive resulted in the termination of a fetus diagnosed with it. It archives the story of the parents who are now in the process of planning future offspring while mitigating disease risk. The case leads the way for effective management and containment of hereditary genetic disorders through carrier detection while planning alliances and offspring.
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A Case of X-Linked Hypophosphatemia: Exploring the Burden in a Single Family and the Significance of a Multidisciplinary Approach

Published on: 24th September, 2023

A 46-year-old lady was diagnosed clinically with X-linked hypophosphatemia (XLH) with a rare pathogenic variant detected using exome sequencing. Phosphate-regulating endopeptidase homologous X linked (PHEX) is normally expressed in osteoblasts and osteocytes, and senses phosphate regulation. More than 1000 PHEX variants have been detected to date, which are caused by missense, nonsense, and frameshift mutations in addition to splice variants and copy number changes. The aberration in the PHEX gene leads to the upregulation of fibroblastic growth factor 23 (FGF23), which leads to defects in phosphate metabolism. This results in impaired bone growth and mineralization, short and disproportionate stature, leg bowing, musculoskeletal pain, spontaneous dental abscesses, rickets, and osteomalacia in XLH patients. The spectrum of manifestations differs between pediatric and adult patients. In our case study, two of the patient’s children started showing symptoms at a younger age, unlike their mother. Timely diagnosis and the start of treatment would help in their better management and improved quality of life.
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Pattern of Clinical Presentation and Management of Inflammatory Bowel Disease

Published on: 12th September, 2023

Background: Inflammatory bowel disease (IBD) is characterized by non-specific chronic relapsing inflammation of the gastrointestinal tract and extra-intestinal manifestations. It includes Crohn’s disease (CD) ulcerative colitis (UC) and unclassified colitis.Objective: To assess the clinical presentations and management of inflammatory bowel disease in Sudanese patients.Methodology: Prospective, cross-section hospital-based study was conducted at Soba University Hospital (SUH) and Ibn Sina Hospital, in a period from December 2016 to March 2017. Data was entered and analyzed with SPSS, an interview questionnaire containing demographic, clinical, type of IBD, treatment, and complications.Results: A total of 64 IBD patients were included, 50% were diagnosed with UC, 28.1% with CD and 21.9% unclassified type. The most frequent age in UC patients was 41 – 50 years 34.4%, in CD was 31- 40 years 38.9% and for the unclassified type was 51 – 70 years 57.2%. The female was higher in CD while males were higher in Ulcerative colitis disease, symptoms were diarrhea, rectal bleeding, abdominal pain, rectal pain, tenesmus and fatigue. Study participants received 5 amino salicylic acid, and steroids, especially in the oral formulation. Minimal usage of topical forms, azathioprine, and biological agents. Conclusion: The study concluded UC is more common than CD. This should be taken into account as an important update for internal medicine professionals to adjust their expectations and lines of diagnosis, and management. The emergence of the unclassified type in Sudan requires good communication between the pathologists and the physicians and MDT meetings in every patient with suspicion of IBD.
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Stroke Mimics: Insights from a Retrospective Neuroimaging Study

Published on: 27th September, 2023

Objectives: The study’s goals are to evaluate the management of Stroke Mimics (SMs), conditions with stroke-like symptoms but non-vascular origins. It seeks to avoid the unnecessary intravenous thrombolysis, the target therapy delays and determine the best SMs diagnosis approach.Materials and methods: A review was conducted of all patients admitted to the Emergency Department under a “stroke code” from January 1, 2018, to January 31, 2019. Anamnestic and clinical data, along with information on neuroimaging protocols and findings, were collected. Advanced MRI sequences, such as Arterial Spin Labeling (ASL) MR perfusion and MR spectroscopy, were revised to confirm the diagnoses.Results: 513 stroke codes were found; a neurovascular disease was diagnosed in 414 cases: 282 ischemic strokes and 73 intracranial hemorrages and 59 TIAs. The 99 SMs included, 13 infections, 12 syncopes, 11 epileptic seizures, 11 hemodinamic conditions, 10 tumors, 9 metabolic disorders, 9 diziness, 7 migraines, 4 drug/alcohol intoxication, 3 functional disorders, 3 acute hydrocefalus, 2 multiple sclerosis, 2 arteriovenous malformations, 1 spinal cord compression and 2 unexplained conditions. Specific neuroimaging findings were evaluated for all cases. Positive and negative predictive values of clinical diagnosis of SM were respectively 0.23 and 0.35. 125 SM patients underwent MRI examination, 40 of which within 3 hours from the activation of stroke code. Advanced MRI sequences as ASL, MR perfusion, MR spectroscopy were used to reach the correct diagnosis.Conclusions: Advanced multimodal MRI can be a valuable tool in the assessment of, particularly in cases where conventional imaging techniques such as DWI-FLAIR mismatch are inconclusive. The novelty of this retrospective study is to demonstrate that the consistent use of arterial spin labeling perfusion in cases with stroke code leads to a rapid and accurate diagnosis of SMs. The implementation of an MRI-based pathway can expedite the diagnosis and treatment of underlying non-vascular causes such as SMs.
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Clinical Approach to Immunotherapy-induced Type 1 Diabetes Mellitus: A Case of Pembrolizumab Associated Insulin-dependent Diabetes in a Patient with NSCLC

Published on: 25th September, 2023

As the introduction of immune checkpoint inhibitors in the treatment of various cancers is now proven to be already acquired knowledge, so does a new challenge arise for clinicians; the understanding, diagnosis, and management of the rarest adverse effects of immunotherapy. We present a case of type-1 diabetes Mellitus (T1DM) in a patient with non-small cell lung carcinoma (NSCLC) treated with pembrolizumab. Following ten cycles of treatment, our patient was diagnosed with T1DM after being admitted for diabetic ketoacidosis and stayed hospitalized in the ICU. Later, they continued treatment with insulin, having shown disease response to pembrolizumab, and resumed immunotherapy while on insulin. Immunotherapy-induced T1DM can sometimes occur with PD1/PD-L1 blockage therapies. It has a rapid onset, is characterized by insulin deficiency due to the autoimmune destruction of beta-cells, and usually presents itself with diabetic ketoacidosis. Unlike most of the other adverse effects of immunotherapy, glucocorticoids don’t seem to be of therapeutic value, and insulin substitution is required. Regular glucose monitoring can be key to early diagnosis and prevention of hospitalization. 
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A Case of Catastrophic Atypical Hemolytic Uremic Syndrome Unresponsive to Eculizumab and the use of Ravulizumab Off-label

Published on: 5th October, 2023

“A 40-year-old woman with melanoma, under treatment with Dabrafenib and Trametinib, was evaluated in our hospital for rapidly progressive deterioration of renal function”. 8 months before the current admission, the patient had been diagnosed with melanoma, and underwent radical surgery and subsequent therapy with Dabrafenib and Trametinib.After 5 months of therapy, the patient was brought to this hospital for precordial pain, with a diagnosis of myopericarditis, therapy was started for heart failure with a good response. However, the patient developed a progressive impairment of renal function, associated with hemolytic anemia and thrombocytopenia. The peripheral smear showed the presence of schistocytes.The suspicion of atypical Hemolytic Uremic Syndrome (aHUS) was confirmed by the assay of C5B-9 induced by serum on endothelial cells, which showed a deposition of 331%, treatment with Eculizumab was initiated.After 3 administrations the patient did not improve, with further worsening of the hemolytic condition, and progression of renal damage.Due to the failure of Eculizumab, we considered the use of Ravulizumab. However, in Italy only can be administered to patients in Eculizumab stable treatment for at least three months. Nevertheless, faced with the catastrophic condition, it was decided to shift the therapy and use off-label Ravulizumab. After 10 days of the first administration, the laboratory tests showed a continuous rise in the values of haptoglobin, platelets, and hemoglobin, and a decrease in LDH. The renal function failed to return to normal values but after 20 days of therapy with Ravulizumab, there was complete resolution of the hemolytic condition.
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Correlation between the Values of Immature Platelet Fraction and Mean Platelet Volume with the Extent of Coronary Artery Disease in Patients with Non-ST-Segment Elevation Myocardial Infarction

Published on: 26th September, 2023

Introduction: The identification of new markers of thrombotic risk and early diagnosis of Non-ST-segment Elevation Myocardial Infarction (NSTEMI) could allow the optimization of the therapy and predict short and long-term prognosis. Aims and objective: We aimed to assess the impact of Immature Platelet Fraction (IPF) and Mean Platelet Volume (MPV) levels on the extent of Coronary Artery Disease (CAD) in patients with NSTEMI undergoing coronary angiography. Methods: This is a prospective observational study in which 100 subjects of Non-ST Elevation Myocardial Infarction were recruited. For the measurement of platelet count, IPF and MPV samples were analyzed by an automated hematology analyzer (Sysmex XN 1000). Patients were subjected to coronary angiography as per institutional protocol and the extent of coronary artery lesion was noted. Result: A cutoff of MPV (fL) ≥ 10.6 can predict the involvement of the left anterior descending artery (LAD) with a sensitivity of 84%, and a specificity of 50%. With the cutoff of IPF (%) ≥ 2.4, it can even predict the type of disease i.e., Double Vessel Disease (DVD), or Triple Vessel Disease (TVD) with a sensitivity of 97%, and a specificity of 19%. Mean IPF values and MPV levels were significantly higher in patients with LAD involvement i.e., 4.40 ± 1.72% (p = 0.003) and 12.45 ± 1.88 (p = 0.030) respectively than in patients without involvement of LAD i.e., 2.78 ± 1.50% and 11.08 ± 2.19 respectively. Conclusion: Immature platelet fraction and mean platelet volume were significantly associated with the involvement of the left anterior descending artery which was the most commonly involved vessel in patients with NSTEMI. Mean platelet volume was also associated with TVD which was statistically significant. MPV and IPF can be useful early independent hematologic markers to identify patients with a higher risk for significant CAD as they are readily available and inexpensive.
Cite this ArticleCrossMarkPublonsHarvard Library HOLLISGrowKudosResearchGateBase SearchOAI PMHAcademic MicrosoftScilitSemantic ScholarUniversite de ParisUW LibrariesSJSU King LibrarySJSU King LibraryNUS LibraryMcGillDET KGL BIBLiOTEKJCU DiscoveryUniversidad De LimaWorldCatVU on WorldCat
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