Presence Of Atypical Symptoms Research Articles

Novel SGCE Mutation in a Patient With Myoclonus-Dystonia: A Case Report.

Characterize the presentation, workup, and management of SGCE myoclonus-dystonia, a rare genetic condition, in a patient with atypical presenting symptoms and no family history of movement abnormalities. A woman with myoclonus and dystonia was identified based on clinical history and physical examination. Workup was conducted to determine the cause of her symptoms, including whole-exome sequencing. Myoclonus-dystonia is associated with more than 100 distinct mutations in MYC/DYT-SGCE that account for only half of the total myoclonus-dystonia patients. As such, this case required intensive genetic analyses rather than screening only for a small subset of well-characterized mutations. Childhood onset myoclonus and worsening dystonia with age were identified in a young woman. She underwent screening for common causes of twitching movements, followed by whole-exome sequencing which identified a de novo novel variant in the SGCE gene, resulting in a diagnosis of SGCE myoclonus-dystonia. Myoclonus-dystonia should be considered in patients with symptoms of head and upper extremity myoclonus early in life, especially with co-occurring dystonia, even in the absence of a family history of similar symptoms. Diagnosis of this condition should take place using sequencing, as new mutations continue to be discovered.

Damage to the esophagus in combination with hereditary motor and sensory neuropathy: description of a clinical case in a 12-year-old child

The article discusses a clinical case of a combination of achalasia of the cardia complicated by candidal esophagitis, which led to severe dysphagia and a significant decrease in body weight of a patient suffering from hereditary motor and sensory neuropathy - Charcot-Marie-Tooth disease (CMT) type 4 E. The authors highlight the pathogenesis and clinical picture diseases, features of the course of achalasia in a patient with a hereditary neurological disease. In this clinical case, an example of a disease in a 12-year-old girl is considered. A feature of this patient was progressive dysphagia, which ultimately led to the almost complete impossibility of normal food intake and the development of nutritional insufficiency. CMT disease is a heterogeneous group of hereditary disorders affecting the peripheral nervous system, as a result of the progression of the disease, motor and sensory dysfunction develops, such patients are under the supervision of neurologists. The presence of atypical symptoms, including not only progressive muscle weakness and exhaustion, with sensory deficits in the distal parts of the limbs, but also the severity of dysphagia, which from episodic becomes permanent, prevents the passage of not only solid food, but also liquid through the esophagus, the occurrence of esophageal vomiting - should serve as the basis for a complete examination of the patient using methods that allow visualization of the esophagus. In the available domestic literature, no description of the combined course of the pathological conditions indicated in the observation was found; isolated cases are given in the foreign literature, so the description of this clinical observation is relevant for raising awareness and early diagnosis of gastrointestinal smooth muscle dysfunction against the background of polyneuropathy.

Radiomics in the Diagnosis of Gastric Cancer: Current Status and Future Perspectives.

Gastric cancer is a malignant cancerous lesion with high morbidity and mortality. Preoperative diagnosis of gastric cancer is challenging owing to the presentation of atypical symptoms and the diversity of occurrence of focal gastric lesions. Therefore, an endoscopic biopsy is used to diagnose gastric cancer in combination with imaging examination for a comprehensive evaluation of the local tumor range (T), lymph node status (N), and distant metastasis (M). The resolution of imaging examinations has significantly improved with the technological advancement in this sector. However, imaging examinations can barely provide valuable information. In clinical practice, an examination method that can provide information on the biological behavior of the tumor is critical to strategizing the treatment plan. Artificial intelligence (AI) allows for such an inspection procedure by reflecting the histological features of lesions using quantitative information extracted from images. Currently, AI is widely employed across various medical fields, especially in the processing of medical images. The basic application process of radiomics has been described in this study, and its role in clinical studies of gastric cancer has been discussed.

Predictors of Pathological Gastroesophageal Reflux among Emirati Patients with Reflux Symptoms Who Undergo Wireless pH Monitoring.

Background: Diagnosis of gastroesophageal reflux disease (GERD) relies on recognizing symptoms of reflux and mucosal changes during esophagogastroduodenoscopy. The desired response to acid suppression therapy is reliable resolution of GERD symptoms; however, these are not always reliable, hence the need for pH testing in unclear cases. Our objective was to identify potential predictors of a high DeMeester score among patients with potential GERD symptoms to identify patients most likely to have pathological GERD. Methods: We conducted a retrospective case-control study on patients who underwent wireless pH monitoring from January 2020 to April 2022. Cases were patients with a high DeMeester score (more than 14.7), indicating pathological reflux, and controls were those without. We collected clinical and demographic data, including age, sex, body mass index (BMI), smoking status, non-steroidal anti-inflammatory drugs (NSAIDs) use, and presence of atypical symptoms. Results: 86 patients were enrolled in the study. 46 patients with high DeMeester scores were considered cases, and 40 patients with DeMeester scores less than 14.7 were considered controls. Esophagitis (grade A) was found in 41.1% of the cases and in 22.5% of the control group. In our study, age of more than 50 years compared with age of 20-29 years and being overweight appeared to be predictors of true pathological reflux among patients with reflux symptoms who underwent wireless pH monitoring. Conclusion: Age above 50 years compared with age between 20-29 years and being overweight appeared to be predictors of true pathological reflux among patients with reflux symptoms who underwent wireless oesophageal pH monitoring. The presence of oesophagitis was approximately four times more likely to be associated with true pathological reflux.

Disparities in outcomes of COVID-19 hospitalizations in native American individuals.

This study aimed to investigate COVID-19-related disparities in clinical presentation and patient outcomes in hospitalized Native American individuals. The study was performed within 30 hospitals of the Banner Health system in the Southwest United States and included 8,083 adult patients who tested positive for SARS-CoV-2 infection and were hospitalized between 1 March 2020 and 4 September 2020. Bivariate and multivariate analyses were used to assess racial and ethnic differences in clinical presentation and patient outcomes. COVID-19-related hospitalizations in Native American individuals were over-represented compared with non-Hispanic white individuals. Native American individuals had fewer symptoms at admission; greater prevalence of chronic lung disease in the older adult; two times greater risk for ICU admission despite being younger; and 20 times more rapid clinical deterioration warranting ICU admission. Compared with non-Hispanic white individuals, Native American individuals had a greater prevalence of sepsis, were more likely to require invasive mechanical ventilation, had a longer length of stay, and had higher in-hospital mortality. Native American individuals manifested greater case-fatality rates following hospitalization than other races/ethnicities. Atypical symptom presentation of COVID-19 included a greater prevalence of chronic lung disease and a more rapid clinical deterioration, which may be responsible for the observed higher hospital mortality, thereby underscoring the role of pulmonologists in addressing such disparities.

Acute-Onset Chronic Inflammatory Demyelinating Polyradiculoneuropathy after Ad26.COV2.S COVID-19 Vaccination (P13-8.006)

<h3>Objective:</h3> NA <h3>Background:</h3> Acute onset demyelinating neuropathy has been reported after coronavirus disease 2019 (COVID-19) vaccination. Only a limited number of cases continued progression and became chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), mostly after ChAdOx1 nCoV-19 vaccination. Here, we report the first case of acute-onset CIDP after Ad26.COV2.S (Johnson &amp; Johnson) vaccination. <h3>Design/Methods:</h3> NA <h3>Results:</h3> A 67-year-old man presented with one-week history of progressive left facial droop, unsteady gait, slurred speech, double vision, and patchy numbness; he reported Ad26.COV2.S vaccination three weeks before presentation. On initial examination, he had left facial palsy, partial left abducens nerve palsy, generalized areflexia, severe lower extremities ataxia, and diminished vibratory sensation in toes. Cerebrospinal fluid analysis showed albuminocytologic dissociation. He received intravenous immunoglobulin (IVIG) for five days for presumptive diagnosis of Guillain-Barré syndrome (GBS). Electrodiagnostic studies demonstrated impersistent F-waves, decreased recruitment in lower extremities, and bilaterally absent blink reflexes. He developed right facial weakness on day three and asymmetric appendicular muscle weakness on day five of treatment. Seven weeks after symptom onset, his lower extremities weakness worsened, and received a second cycle of IVIG. The lower extremity weakness did not improve but remained stable until seventeen weeks after symptom onset when he returned with progressive upper extremities weakness and dyspnea. Electrodiagnostic studies demonstrated demyelinating features consistent with CIDP. Neuromuscular ultrasound demonstrated multifocal median nerve enlargements at non-entrapment sites. At this point, given the clinical course, electrodiagnostic and ultrasonographical findings, CIDP diagnosis was established. <h3>Conclusions:</h3> This patient’s acute-onset CIDP and other reported GBS cases after adenoviral vector COVID-19 vaccinations shared similar and atypical presenting symptoms, which were not seen in GBS after mRNA COVID-19 vaccinations. While a causal relationship cannot be established to his COVID-19 vaccination, this case adds to the evolving literature of COVID-19 vaccination-associated neurological events. <b>Disclosure:</b> Dr. Bendi has nothing to disclose. Dr. Chen has nothing to disclose. Dr. Danielson has nothing to disclose.

Atypical Presentation of Anxiety in a patient with Intellectual Disability: A case report and brief review of literature

OBJECTIVE: The diagnosis of psychiatric illness in patients with Intellectual Disability remains clinically challenging in several clinical situations owing to the patient’s limited intellectual functioning and adaptive behavior. Hence, this may lead to different and atypical manifestation of psychiatric symptoms and signs in these patients.&#x0D; METHOD: We present a case of a 17-year-old boy with moderate intellectual disability who presented to us with chief complaints of dysphagia for 2 months. Personal history indicative of delayed milestones and difficulty in learning simple tasks. Premorbid temperament revealed anxious traits in the child. On MSE affect was distressed, speech was decreased in volume, psychomotor activity was increased and thinking revealed pre-occupation with symptom. Intelligence revealed poor general fund of knowledge and poor arithmetic ability. Insight was absent (Grade I).&#x0D; RESULTS AND DISCUSSION: On the basis of history and MSE a provisional diagnosis of anxiety disorder, unspecified (F41.9) was kept. The patient was started on treatment Tab Mirtazapine 7.5mg ½ BD. The patient showed significant improvement following initiation of treatment. Patients with intellectual disability have difficulty in expressing their psychological symptoms in words at times and present with atypical symptoms of the underlying disorder. This delays their diagnosis and appropriate management. Due to lack of reporting of psychological symptoms patient often continues seeking treatment from general practitioners which leads to loss of time as well as money.&#x0D; CONCLUSION: Physicians and psychiatrists themselves need to be more watchful when evaluating a patient with intellectual disability due to the atypical presentation of symptoms.

ACCEPTANCE OF PATIENTS FOR EXAMINATION OF ANAL DISEASES

Background:In clinical practice, anal problems are often underappreciated. Patients often hide their atypical symptom presentation, according to research, which delays diagnosis and therapy. The management by primary care physicians is inadequately characterized.The aim of the present research was to understand the issues of anal diseases that people suffer from and their problems in accepting the examination of anal diseases. Methods:This research work involved following a cross-sectional approach of study and therefore included collecting first-hand data. This was accomplished through the conduction of the survey and data that are considered through the conduction of the survey are quantitative in nature. This would help in determining the acceptance of patients for examination of anal disease. The method that would be employed for considering the size of the sample is stratified random sampling. The survey involved conducting a survey of patients with anal disease. Results: Of 884 participants included in the current study, 578 accept to be examined for anal disease (65.4%). Half of study participants agreed that anal disease has increased in the recent times (n= 438, 49.5%). Most of study participants believed that eating habits have a role in the development of anal disease (n= 657, 74.3%). In addition, about a third of study participants suffered from chronic anal disease (n= 281, 31.8%). More than half of study participants believe in the need of clinical examination and importance of treatment (n= 455, 51.4%). Anal pain was the most frequent issue experienced by study participants (n= 338, 38.2%). Conclusion:The studys findings revealed that half of the people in this survey who were asked their opinion on the prevalence of anal illness agreed that it had grown in recent years. The majority of the people in this research thought that their diet had a contribution in the onset of their illness. Moreover, 66 percent of those surveyed agree that clinical examinations should not make them feel uncomfortable. A majority of research participants reported experiencing anal discomfort.

Portomesenteric venous thrombosis as a rare complication of acute appendicitis in pediatric patient: a case presentation and literature review

BackgroundAppendicitis is one of the most common paediatric surgical emergencies, however complication with acute portomesenteric venous thrombosis is rare. Our aim is to report a case in our locality and review the clinical features and management of such rare complication.Case presentationA 12-year-old boy presented with a 5-day history of fever, periumbilical and right lower quadrant abdominal pain, blood-stained diarrhea and vomiting. Physical examination showed tenderness and guarding over right upper quadrant. Laboratory tests showed elevated inflammatory markers and deranged liver function. Contrast computed tomography scan showed acute appendicitis and superior mesenteric vein thrombosis. Our patient was treated with laparoscopic appendicectomy, antibiotics, and anticoagulant, with gradual improvement of thrombus observed.ConclusionOur patient and seventeen pediatric case reports regarding the condition since 1990 were included. Atypical presenting symptoms were noted, including RUQ pain (n = 10, 56%), diarrhea (n = 8, 44%), fever (n = 16, 89%), deranged liver function (n = 13, 72%). Patient presenting with RLQ pain were only seen in 22% (n = 4). Diagnosis was made by USG (n = 1, 5%) and computer tomography (n = 15, 83%). Surgical intervention includes early (n = 9, 50%) or interval (n = 4, 22%) laparoscopic or open appendicectomy, laparotomy etc. The most common causative organisms were Escherichiae coli and Bacteroides fragilis. Anticoagulant use and its duration remained controversial. Anticoagulant was used in 14 patients with a mean treatment duration of 7 months, while 4 cases reporting resolution of thrombus without anticoagulant use. A high index of suspicion is needed to diagnose patient with acute appendicitis complicated by portomesenteric thrombosis.

Atypical Gradenigo Syndrome in an Elderly Man Resolved with Mastoidectomy and Petrous Apicectomy.

Gradenigo syndrome (GS) was described primarily in the paediatric population, especially in the pre-antibiotic era. GS is rarely reported in the elderly population, especially in the post-antibiotic era. We present the rare case of a 67-year-old man who presented with an incomplete triad of symptoms (without abducens nerve palsy) of GS that failed medical therapy and was successfully treated with surgical intervention (mastoidectomy and petrous apicectomy). Physicians should be familiar with atypical presenting symptoms of GS as it can lead to life-threatening complications, especially in the elderly. GS cases resistant to medical therapy may require prompt appropriate imaging studies and surgical intervention.LEARNING POINTSGradenigo syndrome may present with an incomplete triad (without abducens nerve palsy), especially in the post-antibiotic era.Gradenigo syndrome can rarely affect immunocompromised elderly patients.Gradenigo syndrome cases resistant to medical therapy may require prompt appropriate imaging studies and surgical intervention (mastoidectomy and petrous apicectomy).

Atypical Gradenigo Syndrome in an Elderly Man Resolved with Mastoidectomy and Petrous Apicectomy

Gradenigo syndrome (GS) was described primarily in the paediatric population, especially in the pre-antibiotic era. GS is rarely reported in the elderly population, especially in the post-antibiotic era. We present the rare case of a 67-year-old man who presented with an incomplete triad of symptoms (without abducens nerve palsy) of GS that failed medical therapy and was successfully treated with surgical intervention (mastoidectomy and petrous apicectomy). Physicians should be familiar with atypical presenting symptoms of GS as it can lead to life-threatening complications, especially in the elderly. GS cases resistant to medical therapy may require prompt appropriate imaging studies and surgical intervention.

Misdiagnosed epidermoid cyst appears Potts Puffy Tumor: A case report and literature review.

IntroductionAlthough nowadays rare, Potts Puffy Tumor (PPT) is a rare but serious diagnosis characterized by osteomyelitis of the frontal bone. The introduction of broad-spectrum antibiotics made PPT an uncommon diagnosis in modern medicine, and it is mostly seen as a complication of frontal sinusitis in children and adolescents.Case presentationWe report a case of PPT in an elderly man with a sudden and increasing swelling of the forehead, which was initially diagnosed as an epidermoid cyst. Subsequent surgical exploration revealed osteomyelitis of the underlying frontal bone. Medical imaging by computed tomography (CT) and magnetic resonance imaging (MRI) was done, and treatment with Functional Endoscopic Sinus Surgery (FESS) and reconstructive surgery of the frontal bone was conducted.DiscussionPPT is a rare, yet serious condition which is usually seen as a complication of chronic sinusitis which causes osteomyelitis and a subperiosteal abscess. Despite the atypical presentation of symptoms, the reported case underlines the importance of rapid deployment of medical imaging, referral, and administration of broad-spectrum antibiotics. Furthermore, surgical intervention is indicated in most cases. When left untreated, PPT can result in severe intracranial complications.ConclusionThe diagnosis PTT is still relevant and may have a nonspecific presentation. A persisting epidermoid cyst after drainage should lead to the suspicion of a PTT. Immediate imaging and adequate treatment are required to prevent serious, potentially lethal intracranial complications.

Sex and Age Differences in Patient-Reported Acute Stroke Symptoms.

BackgroundIdentification of sex- and age-related differences in the presentation of atypical symptoms at stroke onset may reduce prehospital delay and improve stroke treatment if acknowledged at first contact.AimTo explore sex- and age-related differences in patient-reported typical and atypical symptoms of a stroke.MethodsWe used data from a cross-sectional survey at two non-comprehensive stroke units in the Capital Region of Denmark. Patient-reported symptoms, stroke knowledge, and behavioral response were analyzed by the Chi-square test or a Fisher's exact test separated by sex. Multivariable logistic regression adjusted for covariates were used to explore sex- and age-related differences according to each patient-reported typical or atypical symptoms.ResultsIn total, 479 patients with acute stroke were included (median age 74 years [25th to 75th percentile: 64–80], and 40.1% were women). Female sex was associated with higher odds of presenting with atypical symptoms, such as loss of consciousness (OR 2.12 [95% CI 1.08–4.18]) and nausea/vomiting (OR 2.33 [95% CI 1.24–4.37]), and lower odds of presenting with lower extremity paresis (OR 0.59 [95% CI 0.39–0.89). With each year of age, the odds decreased of presenting with sensory changes (OR 0.95 [95% CI 0.94–0.97]) and upper extremity paresis (OR 0.98 [95% CI 0.96–0.99]), whereas odds of presenting with dysphagia (OR 1.06 [95% CI 1.02–1.11]) increased.ConclusionsPatients of female sex and younger age reported on admission more frequently atypical stroke symptoms. Attention should be drawn to this possible atypical first presentation to facilitate correct identification and early stroke revascularization treatment to improve the outcome for both sexes.

A Portrait of Menière's Disease Using Contemporary Hearing and Balance Tests.

Menière's disease (MD) is characterized by recurrent vertigo and fluctuating aural symptoms. Diagnosis is straightforward in typical presentations, but a proportion of patients present with atypical symptoms. Our aim is to profile the array of symptoms patients may initially present with and to analyze the vestibular and audiological test results of patients with a diagnosis of MD. A retrospective study of patient files. A tertiary, neuro-otology clinic Royal Prince Alfred Hospital, Sydney, Australia. We identified 375 patients. Their history, examination, vestibular-evoked myogenic potentials (VEMP), video head-impulse test, canal-paresis on caloric testing, subjective visual horizontal (SVH), electrocochleography, ictal nystagmus, and audiometry were assessed. Atypical presenting symptoms were disequilibrium (n = 49), imbalance (n = 13), drop-attacks (n = 12), rocking vertigo (n = 2), and unexplained vomiting (n = 3), nonspontaneous vestibular symptoms in 21.6%, fluctuation of aural symptoms only (46%), and headaches (31.2%). Low velocity, interictal spontaneous-nystagmus in 13.3% and persistent positional-nystagmus in 12.5%. Nystagmus recorded ictally in 90 patients was mostly horizontal (93%) and of high velocity (48 ± 34°/s). Testing yielded abnormal caloric responses in 69.6% and abnormal video head impulse test 12.7%. Air-conducted cervical VEMPs were abnormal in 32.2% (mean asymmetry ratio [AR] 30.2 ± 46.5%) and bone-conducted ocular VEMPs abnormal in 8.8% (AR 11.2 ± 26.8%). Abnormal interictal SVH was in 30.6%, (ipsiversive n = 46 and contraversive n = 19). Mean pure-tone averages 50 dB ± 23.5 and 20 dB ± 13 for affected and unaffected ears. Menière's disease has a distinctive history, but atypical presentations with normal vestibular function and hearing are a diagnostic challenge delaying treatment initiation.

Dynamics of inflammatory changes of the gastric mucosa in children with duodenal ulcer

Background. The problem of gastrointestinal diseases in children remains quite relevant due to the high prevalence and presence of atypical symptoms and comorbidities pathogenetically associated with acid-dependent diseases. The purpose was to study the dynamics of inflammatory changes of the mucous membrane in children with duodenal ulcer (DU). Materials and methods. One hundred and six children aged 10 to 18 years with DU were examined. To verify the diagnosis, all children underwent endoscopy, pH-metry, morphological examination of gastrobiopsy samples, examination for Helicobacter pylori (H.pylori). Results. 49.1 % of children with DU were diagnosed with impaired motor-evacuatory function in the form of duodenogastric and/or gastrooesophageal reflexes, 81.1 % of patients presented with H.pylori was determined. Erythematous changes of the gastric and duodenal mucosa predominated. 92.4 % of patients were diagnosed with chronic non-atrophic gastritis and/or gastroduodenitis with varying degrees of inflammation, 7.6 % of children — chronic atrophic gastritis. There was a decrease in height and signs of desquamation of the superficial epithelium, in 72.3 % — the development of granular dystrophy, in 6.9 % of patients without H.pylori infection and in 57.5 % of H.pylori infected — neutrophilic infiltration of the mucous membrane. In the dynamics after 3 months, the height of the superficial epithelium and the frequency of desquamative changes decreased, and the proliferation of the glandular epithelium 12.4 % increased. Conclusions. Morphological changes in biopsies of the gastric mucosa differ depending on the presence of H.pylori infection and partially persist for 3 months after treatment.

Ureteral stone presenting as acute prostatitis: A case report of a COVID-19 patient with distal ureteral stone

Background and Objective: Distal ureterolithiasis is one of the most common urinary tract problems and can be accompanied by such symptoms as abdominal pain, nausea, vomiting, dysuria, frequent urination, and hematuria. Case Presentation: The ureteral stone might be misdiagnosed in the presence of atypical symptoms. We reported a 31-year-old man with clinical signs of prostatitis, normal laboratory tests, and normal ultrasonography who had received treatment for acute prostatitis for several weeks, however, had no improvement. Conclusion: Further assessments by intravenous pyelography revealed distal right ureteral stone. Complete recovery was achieved immediately after transurethral lithotripsy.

Pheochromocytoma Masquerading as Weight Loss - a Diagnostic and Management Challenge

Abstract Introduction: Classic pheochromocytoma symptoms include headache, diaphoresis, palpitations and symptomatic pheochromocytomas are on average around 5cm. They respond to preoperative alpha blockade followed by surgery. We present a case of a giant 15.9cm pheochromocytoma with delayed presentation and diagnosis complicated by atypical symptoms of nausea, weight loss; preoperative preparation included a modified preparation of high-dose phenoxybenzamine but she underwent successful surgery. Case Description: A 62-year-old female with a history of hypertension and diabetes presented with nausea and 80 lbs weight loss over 18 months. CT scan revealed large centrally necrotic mass overlying the left kidney, measuring 15.9 x 12.7 x 14.7cm. Abdominal MRI showed claw sign; she was admitted to the urology service for tube feeding prior to resection of suspected renal cell carcinoma. Given the location of the mass and history of hypertension, plasma metanephrines, included in preoperative workup, were notable for: total metanephrines &amp;gt;40000 pg/ml (reference range &amp;lt;=205), normetanephrines &amp;gt;20000 pg/ml (reference range &amp;lt;=148), metanephrines 57 pg/ml (reference range &amp;lt;=57). Endocrine was consulted and she was started on phenoxybenzamine; she underwent volume replacement with fluids and salt tablets. Due to nausea and vomiting she was unable to reliably tolerate oral medication; BP management was challenging. Oral pill dosing was minimized. Metoprolol was converted to metoprolol SA and a phenoxybenzamine suspension that could be delivered through the feeding tube with good absorption was made. On the day prior to surgery, BP was 117/76 mmHg, supine HR 92 bpm, on a total daily dose of phenoxybenzamine 240mg, metoprolol SA 200mg and amlodipine 10mg. She underwent a radical left nephrectomy and adrenalectomy. Plasma metanephrines six weeks later were normal: total metanephrines 84 pg/ml, normetanephrines 84 pg/ml, metanephrines &amp;lt;25 pg/ml. Pathology showed benign pheochromocytoma. Conclusion: Giant pheochromocytomas present significant challenges for clinicians who must be aware of the potential for nonspecific symptoms which can delay diagnosis. Paroxysmal hypertension happens in only about 50% of pheochromocytoma patients; primary hypertension is often diagnosed, as had been the case with our patient. Additionally, initial imaging related to atypical presenting symptoms may not lead to the specific diagnosis, as in our patient; metanephrine screening revealed the correct diagnosis. Regarding management, preoperative alpha blockade dosage and delivery should be tailored to individual patient needs, with adjustment as needed and alternative preparations considered to optimally control BP and reduce risk of death and other perioperative complications. Our case highlights the diagnostic and management challenge of patients presenting with giant pheochromocytomas.

Diagnostic work up and indications for gastro-esophageal reflux surgery

: Gastro-esophageal reflux disease (GERD) has a worldwide prevalence and presents with a broad spectrum of symptoms and various grade of severity: from mild disease to complicated disease in relation with long standing disease. Etiopathology is related to abruption of anti-reflux mechanisms, including anatomical barrier which protects by reflux of gastric content and esophageal peristalsis that cleans the reflux to avoid the exposition of esophageal mucosa to acid. Diagnosis is based primarily on typical symptoms, the presence of atypical symptoms that can be related to GERD needs additional testing, as pH-impedance monitoring and esophageal manometry. These additional tests are necessary to assess the association between pathologic reflux and the symptoms. Lifestyle interventions are recommended; to date, the proton pump inhibitors are milestone of the medical treatment and the 8-week trial is first line therapy and it is considered also as diagnostic mean. Other possible medications include histamine-receptor antagonists and neuromodulators. When medical therapy lacks in relieving symptoms, anti-reflux surgery (ARS) can be suggested after an adequate characterization of disease. The 24-hour esophageal pH-impedance monitoring allows to demonstrate the pathological reflux and the association between acid and not-acid reflux with the symptoms. The high-resolution manometry (HRM) is useful to identify esophageal major motility disorders. These tests are suggested to select patients with better outcome from surgery and to tailor the most suitable procedure for patients.

Prevalence of COVID-19-related symptoms by age group

BackgroundSevere acute respiratory syndrome coronavirus 2 has caused over 95 million confirmed cases of COVID-19 and over 2 million deaths worldwide. According to current literature data, older adults have higher risk of severe disease and mortality due to COVID-19. It is also known that older adults often do not present typical symptoms of diseases. The aim of the study was to assess if the prevalence of typical COVID-19-related symptoms varies by age group.MethodsMedical charts of a random sample of COVID-19 patients dying in-hospital were retrieved through an integrated national surveillance system and reviewed by a group of researchers at the Italian National Institute of Health. Detailed information on COVID-19-related symptoms were extracted and analyzed.Results3241 confirmed cases of COVID-19-related deaths were identified from 4391 reviewed medical charts. The mean number of COVID-19-related symptoms progressively declined with age, from 2.1 in patients aged < 60 years to 1.7 in those aged 90 years or older (p < 0.001). Moreover, fever, cough, and diarrhea significantly declined with increasing age.ConclusionsOlder adults have atypical presentation of symptoms and may be paucisymptomatic. This may lead to a diagnostic and therapeutic delay which aggravates the prognosis of COVID-19.Special attention should be posed when assessing individuals aged 65 years and older with suspected COVID-19.

Challenges in Diagnosis of Ischaemic Stroke: A Descriptive Study of Stroke Mimics and Missed Strokes

Background: Despite technologic advances, stroke remains a difficult clinical diagnosis. We aimed to investigate the rate and characteristics of stroke mimics (SM) and missed strokes (MS). Research Methodology: We used data of consecutive “suspected stroke” admissions in a tertiary academic Hospital from January 2016 to July 2018. Diagnosis of SM was based on the absence of an ischaemic infarct on neuroimaging plus the presence an alternate discharge diagnosis. MS were defined as any patient with a discharge diagnosis of stroke whose stroke-like symptoms were missed in the Emergency Department (ED). Findings: Of 1745 patients reviewed, 63% were ischaemic stroke, 18% Intra-Cranial Haemorrhage (ICH), and 18% SM. We detected 95 MS. Stroke risk factors were significantly less common among SM and MS compared to stroke patients. Younger age, female gender, dizziness, ataxia, absence of limb weakness, and absence of certain vascular risk factors were predictors of SM. For MS, the predicting factors were young age (<55), confusion at presentation, hypercholesterolemia, and absence of hypertension. Conclusion: Atypical presenting symptoms can cause over and under-diagnosis of stroke. MS and SM are similar in many aspects. These diagnostic errors occur more often in younger patients with less severe neurological symptoms and symptoms attributable to posterior circulation.