Atypical Symptomatology Research Articles

The Spectrum Of Symptoms In Older Patients With Severe Orthostatic Hypotension

Abstract Background Orthostatic Hypotension (OH) is an important cause of falls in older people, with patients typically presenting with postural dizziness/light-headedness. However, while we recognise clinically that in older patients with OH, symptoms are often absent or atypical, little work to date has captured this spectrum of OH symptoms. The aim of this study therefore was to examine symptom profiles in a large cohort of older people with severe OH and ascertain the prevalence of ‘asymptomatic’ OH. Methods We included a consecutive cohort of older patients (aged ≥60 years) with severe OH attending a tertiary referral falls unit. OH, was identified during an active stand using a Finometer® measuring beat-to-beat phasic blood pressure. Patients were asked to report any symptoms during the test and each symptom was recorded. Severe OH was defined as failure of recovery of BP to within 20 mmHg systolic/10mmHg diastolic of baseline value within 3 minutes of standing. Results 71% of patients (n=393) reported symptoms during the active stand, with two thirds of these reporting ≥2 symptoms. The most frequent reported symptoms were dizziness (52%) and poor balance (52%), followed by weakness (38%), visual disturbance (28%), light-headedness (21%), fatigue (6%), nausea (4%), feeling warm (4%) and palpitations (1%). Nurses reported pallor in 13% of patients, while 3% needed to lie down due to hypotension/presyncope. Average time to symptom reporting was 16 seconds (compared to 11 seconds in patients who did not have severe OH). Conclusion Almost one third with severe OH reported no symptoms during an active stand, while only half reported ‘typical’ OH symptoms of dizziness/light-headedness. Atypical symptoms such as fatigue, and generalised weakness are relatively common. Atypical symptomatology is therefore frequent in older patients with severe OH. These findings have important implications for the clinical assessment of older people with falls.

Syphilis Should not be Overlooked in any Individual, Irrespective of their Condition.

Syphilis remains a significant challenge in public health, largely because of its diverse clinical manifestations, often resulting in underdiagnosis especially among patients with neurogenic disability. We present a case of neurosyphilis in a 63-year-old patient with a spinal cord injury. Despite syphilis being a well-established sexually transmitted infection, the exacerbation of neurological and dermatological symptoms during physical examination prompted an investigation into alternative causes beyond the patient's pre-existing paraparesis, ultimately resulting in the diagnosis of neurosyphilis. This case highlights the importance of considering syphilis as a potential diagnosis in individuals regardless of their medical history. The incidence of syphilis cases is on the rise, presenting an ongoing challenge.Faced with atypical neurological symptomatology, it is necessary to know how to investigate and discuss tertiary syphilis.In the event of neurological worsening in a neuro-injured patient, it is necessary to know how to discuss a curable diagnosis.

Vitamin B12 Deficiency in Children and Adolescents: A Case for Revised Diagnostic Parameters.

Vitamin B12 deficiency is commonly diagnosed using thresholds developed for adults, yet emerging evidence indicates these levels may not be appropriate for children and adolescents. This misalignment can lead to underdiagnosis in younger populations, with potential long-term health implications. Chief Complaint: The 17-year-old female patient experienced severe fatigue, menstrual irregularities, psychological distress, and neurological symptoms over several years. The 13-year-old male patient had behavioral changes, gastrointestinal complaints, and sensory disturbances from an early age.Diagnosis: Both adolescents displayed B12 levels that were considered low-normal based on adult thresholds, complicating their diagnostic processes. Their diverse and atypical symptomatology required a comprehensive review of their medical and family histories, clinical symptoms, and risk factors.Intervention: Treatment included administration of hydroxocobalamin injections, complemented by dietary adjustments.Outcome: Both patients responded well to the treatment, showing significant improvements in their symptoms and overall quality of life. The main takeaway from these cases is the importance of tailoring diagnostic adequate thresholds and treatment plans to the pediatric population to address and manage B12 deficiency effectively. This approach can significantly enhance patient outcomes and prevent the progression of potentially severe complications in later life.

Sex-associated differences in cardiac ageing: Clinical aspects and molecular mechanisms.

Despite the extensive clinical and scientific advances in prevention, diagnostics and treatment, cardiovascular diseases (CVD) remain the leading cause of morbidity and mortality worldwide for people aged 65 and over. Of all ageing-related diseases, CVD are responsible for almost one-third of deaths in the elderly, being above all cancers combined. Age is an independent and unavoidable risk factor contributing to the impairment of heart and blood vessels. As the average age of the population in industrialized countries has doubled in the last century, and almost a fifth of the world's population is predicted to be over 65 in the next decade, we can assume that the burden of CVD will fall primarily on the elderly. Evidence from basic and clinical science has shown that sex significantly influences the onset and severity of CVD. In women, CVD usually develop later than in men and with atypical symptomatology. After menopause, however, the incidence and severity of CVD increase in women, reaching equality in both sexes. Although intrinsic sexual dimorphism in cardiovascular ageing may contribute to the sex differences in CVD progression, the molecular mechanisms associated with cardiovascular ageing and their clinical value are not known in detail. In this review, we discuss the scientific knowledge available, focusing on structural, hormonal, genetic/epigenetic and inflammatory pathways, seeking to transfer these findings to the cardiovascular clinic in terms of prevention, diagnosis, prognosis and management of these pathologies and proposing possible validation of target specifics.

Depression, Ulcers and Confusion – A Clinical Case of Behçet’s Disease with Psychiatric Presentation

IntroductionBehçet’s disease, a rare autoimmune disorder, can present a challenging diagnostic puzzle, particularly when neuropsychiatric symptoms take the forefront. In this case study, we delve into the diagnostic process of a 43-year-old patient without prior psychiatric history, who initially presented with depressive and catatonic symptoms. The trajectory from psychiatric admission to a final diagnosis of Behçet’s disease with neuropsychiatric involvement underscores the importance of interdisciplinary collaboration and the consideration of rare diseases in psychiatric assessment. Clinical remission was achieved with immunosuppressive therapy.ObjectivesPresentation of a clinical case of Behçet’s disease with neuropsychiatric manifestations.MethodsReview of the patient’s clinical data in SOARIAN platform and research on UptoDate and Pubmed using the terms “Catatonia,” “Behçet disease,” “Neuro-Behçet,” and “Psychiatry.”ResultsWe present a clinical case of a 43-year-old patient, originally from India, not fluent in Portuguese or English, with no prior psychiatric history, who presented to the emergency department exhibiting mutism and was admitted to the psychiatry department with the diagnostic hypothesis of depressive episode with psychotic and catatonic symptoms. During hospitalization, severe vitamin deficiencies, gastrointestinal symptoms (vomiting, abdominal pain, and hematochezia), and gynecological symptoms (dyspareunia and vaginal discharge) were observed. From a psychiatric perspective, in addition to depressive and psychotic symptoms, atypical symptomatology incongruent with the initial diagnosis was identified, raising suspicion of an “organic” disease. There was an atypical fluctuation in symptoms, with periods of severe behavioral disorganization interspersed with periods of apathy and psychomotor retardation, significant alterations in attention and memory, and executive deficits. Additionally, there was a poor response to psychiatric medication and electroconvulsive therapy. A colonoscopy revealed ulcers at the ileocecal valve, and gynecological lesions suggestive of a vasculitic process were observed. Autoimmunity testing showed positivity for HLA B51/52. Given the neuropsychiatric, gastrointestinal, and gynecological manifestations, along with suggestive autoimmunity, the diagnosis of Behçet’s Disease with neurological involvement was established. Clinical remission was achieved only with immunosuppressive therapy. The case is enriched by the complex diagnostic journey, multiple complications encountered (including valproic acid-induced encephalopathy), and the challenges faced in treating neuropsychiatric manifestations.ConclusionsThis clinical case exemplifies the challenges in diagnosing a systemic disease with primary psychiatric presentation, as well as the therapeutic success resulting from multidisciplinary collaboration in a public hospital.Disclosure of InterestNone Declared

Atypical Presentations of Childhood Simple Partial Seizures: a Case Series.

Childhood epilepsy can masquerade as a variety of psychiatric disorders or behavioural abnormalities. Differentiating between simple partial seizure and psychiatric disorders remains a challenge. We report on three children with simple partial seizure, each presented atypically with migraine, tingling sensations, and/or crying spells. When dealing with atypical symptomatology, clinicians should utilise a multidirectional, rather than unidirectional, diagnostic approach when making their diagnosis.

Adenocarcinoma of the Jejunum: A Case Report and Literature Review

Abstract Small intestine cancers account for 1-3% of all gastrointestinal tumors, with only 11-25% of these tumors located in the jejunum. We report the case of a woman who has been experiencing abdominal pain for the last six months, accompanied by nausea, vomiting and appearance of dark-colored stools, who has lost 20 kg in weight during the last few months. Laboratory findings indicated anemia and no significant changes were identified in the abdominal ultrasound. By endoscopic examination of the stomach and duodenum and by colonoscopy, no infiltrations were found. Serum markers were elevated and CT scan of the abdomen showed thickening of a part of the jejunum wall with swollen lymph nodes in the mesentery, along the inferior vena cava and abdominal aorta, in the retroperitoneal space. By opening the abdominal cavity, we observed an infiltration in the initial part of the jejunum with an infiltration of the entire wall. Resection of the jejunum with related mesenthery, vessels and lymph nodes therein was performed. Histopathology revealed an invasive adenocarcinoma of the small intestine, with an invasion of all layers of the wall and mesentery. Adjuvant FOLFOX chemotherapy was introduced, 6 cycles in total, and following each cycle, tumor markers have been constantly decreasing. No relapse has been identified after nine months. Due to often deep position in the small intestine, atypical symptomatology and lack of screening, an early diagnosis is difficult. Surgical resection of the affected small intestine followed by an additional chemotherapy is the optimal treatment strategy.

EE535 Economic Evaluation of Decennial Pertussis Vaccination with Tetanus, Diphtheria and Acellular Pertussis (TDAP) Vaccine in Adult Populations with Asthma or Chronic Obstructive Pulmonary Disease (COPD) in Brazil

Pertussis, a highly contagious respiratory disease caused by Bordetella pertussis, is endemic in Brazil, but is underdiagnosed in adults due to atypical symptomatology and limited diagnosis time window. Brazil's Ministry of Health recommends decennial boosters in adults against diphtheria and tetanus, but not pertussis. After the COVID-19 pandemic, infectious diseases surged worldwide due to lack of natural exposure and reduced immunization coverage. Asthma and COPD populations are at increased risk of pertussis infection. This study assessed the cost-utility of decennial pertussis vaccination with Tdap vaccine versus no pertussis vaccination in Brazil's adult asthma and COPD populations in a high-incidence context.

Particularities of Catheter Ablation in Women with Atrial Fibrillation and Associated Ischemic Heart Disease.

Background: Atrial fibrillation is more common in men, but in the presence of ischemic heart disease, this arrhythmia is more frequent in women. However, like in coronary heart disease, women with atrial fibrillation are suboptimally treated. Methods: To identify particularities of ablation, in women with atrial fibrillation and ischemic heart disease. Results: 29 women and 26 men, with documented ischemic heart disease and atrial fibrillation, who underwent catheter ablation, were admitted in the study. No significant differences were registered regarding the heart rate control treatment. Electrical cardioversion was significantly higher in men, while pharmacological cardioversion was predominantly recommended in women. The ablation was performed later in women, after 2.55 ± 1.84 years versus 1.80 ± 1.05 in men (p = 0.05). The time elapsed until the ablation was performed was statistically correlated with atypical symptomatology and with the number of antiarrhythmics used prior to the ablation. There were no significant differences for the relapse of atrial fibrillation at 3 months. Quality of life at 3 months after ablation was increased in both groups. Conclusion: Catheter ablation is performed much later in women, and the causes responsible for this delay would be more atypical symptoms and a greater number of antiarrhythmics tried before the ablation.

107 A Rare Presentation of a Giant, Multi-Compartmental Lipoma of the Hand Causing Median Nerve Compression

Abstract Lipomas are the commonest benign tumour, made up exclusively of adipose tissue, and can arise anywhere in the body. However, giant lipomas of the hand, defined as greater than 5cm in diameter, are rare. They have the potential to invade and cause a multitude of symptoms due to the compression and proximity of underlying structures. We describe a case of a 64-year-old woman who presents with a swelling of the left thenar eminence, associated with numbness and tingling in all fingers. MRI and nerve conduction studies confirmed the diagnosis of a lipoma causing median nerve compression. The patient underwent elective surgical excision using a volar approach, with good postoperative recovery. The excised lesion, measuring 12x7x2.4cm, is the largest giant lipoma of the hand reported in literature, and the first to demonstrate invasion from the mid palmar space into both the dorsal sub-aponeurotic space and carpal tunnel. Space occupying lesions, such as giant lipomas of the hand, are a rare but important secondary cause of compression neuropathies of the upper extremity and must be suspected when these neuropathies present with atypical symptomatology. Any patient presenting with a soft-tissue lesion of the hand demonstrating rapid growth, pain or large size must be thoroughly investigated to rule out malignancy. MRI forms an essential part of the workup in such cases due to its high diagnostic accuracy. Malignant transformation of giant lipomas of the hand is extremely rare, and such lesions can be removed by en bloc marginal resection with excellent postoperative results.

Basal Ganglia Germinoma in an Adolescent: A Case Report

AbstractGerm cell tumors are rare tumors and may pose a diagnostic dilemma. We present a 15-year-old boy with insidious onset right hemiparesis followed by polyuria and polydipsia. Later, he also developed cognitive decline and speech disturbances. Serial magnetic resonance images (MRIs) over a 2-year period showed progressive atrophy of the left caudate nucleus, along with Wallerian degeneration of the left internal capsule and crus of midbrain. Further in the course, imaging revealed an ill-defined signal intensity involving left ganglio-capsulo-thalamic region with increased perfusion which was suggestive of basal ganglia germinoma. Beta human chorionic gonadotropin levels were mildly elevated. This case illustrates an uncommon presentation of a central nervous system germinoma which is often misdiagnosed in the early stages because of its atypical symptomatology and MRI findings.

Jaundice as an atypical manifestation of the new coronavirus infection. Case report

In many cases, the clinical presentation of SARS-CoV-2, seeking to the epithelium of the respiratory tract, was typical and affected only the respiratory system, but if we look at the statistics, other clinical findings were also encountered. In particular, the virus can also affect the gastrointestinal tract. There was an outbreak of SARS in 2002, and more than 70% of patients had dyspeptic disorders. In 2012, there was an outbreak of the Middle East respiratory syndrome and a quarter of patients had similar symptoms. And there were cases in which it was dyspepsic phenomena that came to the forefront and respiratory phenomena only afterwards. Already in 2012, this behavior of coronavirus made it difficult to make a correct diagnosis. SARS-CoV (2002), MERS-CoV (2012), and the new SARS-CoV-2 (2019) belong to the genus Betacoronavirus, and the genome sequence of SARS-CoV-2 is similar at 82% to that of severe acute respiratory syndrome coronavirus. The kinship of the viruses should alert physicians and always warn that an atypical clinical picture of the disease is possible, as has been the case in the past. This article describes a clinically interesting patient. Jaundice is the only symptom, a symptom that confuses doctors, because no one could think of a coronavirus infection in this case. The purpose of this article is to show on the example of a patient that it is difficult to diagnose the main diagnosis in case of atypical symptomatology of COVID-19. Therefore, also in cases of liver damage it is necessary to collect the anamnesis qualitatively, to make differential diagnosis not only within the framework of gastroenterology, but also in present conditions suspecting a new coronavirus infection.

P-288 Pancreatic cancer: Epidemiological factors, clinical characteristics, and therapeutic management: Data of an oncology center in southern Morocco

Pancreatic cancer is considered one of the most aggressive cancers with poor prognosis. It is usually tardily diagnosed due to its atypical symptomatology, the reason why its mortality parallels its incidence. Within the last decade, the treatment hasn’t improved and remains limited because of the excessive amount of mutations involved in its pathogeny.

Lumbosciatic Pain Revealing a Cystic Lymphangioma of the Pancreas

The cystic lymphangioma of the pancreas is an exceptional benign vascular malformation especially by its location, its diagnosis is based on imagery and confirmation is made by anatomopathological analysis. The only treatment is the most complete surgical excision possible to prevent recurrences which are frequent. We report a case of a young 26-year-old patient who presented with an atypical symptomatology made up of left lumbosciatic pain as well as abdominal pain. Abdominal MRI showed the presence of a large cystic mass and the anatomopathological examination of the surgical specimen after complete excision confirmed the diagnosis of cystic lymphangioma of the pancreas.

Development of a cell-based reporter assay for detection of Human alphaherpesviruses

Immunosuppressed patients can suffer from Human alphaherpesvirus (HSV) infection with fast evolution, severe atypical symptomatology, and often-fatal outcome. Thus, the development and validation of new methods in vitro and in vivo to promote an early diagnosis and effective treatment of these patients are crucial. Therefore, this work aimed to develop a cell-based reporter assay for the detection of HSV through the transfection of Vero cells with the ICP10 promoter from HSV-2 linked to the pZsGreen1-1 plasmid. The assay was evaluated on Vero cells infected with HSV-1 or HSV-2 and followed by treating them with anti-HSV agents (acyclovir, gallic acid, convallatoxin, and Uncaria sp. extract) or with no anti-HSV activity agents (Passiflora edulis extract and cardenolide derivatives). The GFP expression was increased by both HSV cellular infection, which was detected by flow cytometry and fluorescence microscopy. F2R Zsgreen1-1 cells infection with 200 and 600 PFU/mL of HSV-2 increased the fluorescence intensity, when compared to the controls, by approximately 30% and 60%, respectively. Infection with 100 and 600 PFU/mL of HSV-1 also increased the fluorescence intensity by approximately 20% and 35%, when compared to the controls, respectively. The F2R ZsGreen1-1 system revealed to be an efficient assay, which can be used for clinical diagnosis, antiviral resistance evaluation, HSV cycle studies, and new antiviral drug research.

Asian guidelines for UTIs & STIs UTI section: Complicated UTIs with neurogenic bladder

Urinary tract infection (UTI) in patients with neurogenic bladder causes significant morbidity and mortality. UTI in neurogenic bladder causes atypical symptomatology. Urine tests are pivotal in confirming or excluding UTI, and in guiding appropriate antibiotic treatment. 1. Symptomatic UTI warrants appropriate antibiotic treatment with reference to culture results and local antibiotic resistance patterns. Asymptomatic bacteriuria should not be treated, and antibiotic prophylaxis is generally not recommended.2. Adequate bladder drainage is essential in reducing the occurrence of urinary tract infections.3. Recurrent UTI in neurogenic bladder may necessitate the treatment of neurogenic detrusor overactivity and the restoration of low bladder pressure during bladder storage and voiding by drugs or surgery.

Cervical osteomyelitis and an epidural abscess: an unusual form of cat-scratch disease in one case

BackgroundThe association of cervical osteomyelitis with epidural abscess is extremely rare; atypical symptomatology is what makes diagnosing and management challenging. This case is the sixth case reported in the literature. The objective of our study is to describe the clinical manifestation and treatment approach.Case presentationA 71-year-old male with no medical history, who was admitted to the emergency room for C7-T1 spinal cord compression caused by Bartonella henselae, marked improvement after decompression by evacuating the empyema and antibiotic course.ConclusionCat-scratch disease or subacute regional lymphadenitis is a bacterial infection caused by Bartonella henselae; children and adolescents are mostly infected. Systemic complications are rare; the prevalence of bone damage is estimated at 0.1 to 0.3%. Our case allows a literature review of and put in focus on our diagnostic and therapeutic attitude.

DUODENAL PERFORATION INTO RETROPERITONEUM BY A BILIARY STENT

Migration of endoscopically placed biliary stents is a well-recognized complication of endoscopic retrograde cholangiopancreatography (ERCP). Duodenal perforation by a biliary stent is an uncommon but hazardous complication associated with a high mortality rate. It can be either retroperitoneal, causing biloma, or intraperitoneal leading to biliary peritonitis. Duodenal perforation into the retroperitoneum presents itself as a non-specific condition. It requires an extremely high index of suspicion for its early diagnosis. A delayed diagnosis seriously aggravates the prognosis. We report a case of mortality secondary to a duodenal perforation into retroperitoneum by a biliary stent endoscopically placed with an atypical symptomatology.

Post-coronavirus disease 2019 children in Sarajevo-Lessons learnt?

Introduction: A new disease coronavirus disease 2019 (COVID-19) is with insufficiently known epidemiological characteristics and spectrum of clinical expression in childhood. Children have a lower incidence of this disease with a predominance of mild forms but severe clinical forms, such as among others, acute respiratory distress syndrome, and multisystem inflammatory syndrome may occur, according to current findings. In children with atypical symptomatology and positive or suspicious epidemiological survey, practitioners should consider the possibility of COVID-19.Methods: This study formed the group of 70 children previously healthy or with no pre-existing heart disease from Sarajevo with positive post-COVID history. Following the history of disease and epidemiological data, establishing the 1st day of disease or contact, a detailed cardiovascular examination was performed, including parameters of body weight, height, oxygen saturation, pulse, blood pressure, 12 leads electrocardiogram (ECG) done on Schiller machine, values of polymerase chain reaction (PCR), or serological test on corona: Immunoglobulin (Ig) G and IgM. Echocardiographic examination was done using M, B mode, color, continuous wave, and pulse wave Doppler in standard views. Laboratory blood tests included: Full blood count, creatinine phosphokinase myofibril, creatinine phosphokinase, lactate dehydrogenase; liver enzymes, D dimer, C reactive protein, and urine.Results: Majority of children (64.3%) were asymptomatic. ECG was normal in relation to patients’ age except in eight patients (intermittent palpitations on exertion) who had short PR interval 0.120–0.140 ms, with no delta wave, with heart rate within the normal range according to age, so 24 h ECG Holter was performed without any significant arrhythmias, incomplete right branch block has been documented in 12%, monofocal ventricular ectopic extrasistoly in 15%. Mean IgG, as a marker of infection, showed a statistical significance when compared between age Groups I and II (<5) and older groups: III, IV, and V (>5) (p < 0.05; p = 0.043). PCR test was negative in 9 (70 children), although they showed symptoms, COVID-19 infection clinical data, and positive laboratory findings. Echocardiogram was normal in all patients with normal ejection fraction of the left ventricle.Conclusion: The possibility of COVID-19 in children with atypical symptomatology and positive or suspicious epidemiological survey should be in the focus of every pediatrician at primary care institutions nowadays. Cardiovascular assessment should always be an option in post-COVID patients. Immunological assessment is necessary in post-COVID patients in order to gain a further understanding of PTS status. With more serological testing for severe acute respiratory syndrome coronavirus 2 physicians would be able to make a diagnosis of COVID-19 timely and more accurately, as well as to evaluate the role of asymptomatic children in disease transmission and to assess the importance of protective antibodies and the distribution of COVID-19.

Analysis of Manganese Bioaccumulated in Mediterranean Blue Mussel (Mytilus galloprovincialis) from the Bay of Mali Ston (Adriatic Sea, Croatia) during Diarrhetic Shellfish Poisoning Toxicity

Diarrhetic Shellfish Poisoning (DSP) toxicity was revealed in the Mediterranean blue mussel (Mytilus galloprovincialis) from the Bay of Mali Ston, in the south part of the Eastern Adriatic Sea, through the Croatian National Monitoring Programme in the period from January until June of 2011. A survey of DSP toxicity within the frame of regular controls carried out through the mouse bioassay (MBA, at the time the official method for DSP toxins) demonstrated that in some incidents, positive MBA, which manifested by the atypical symptomatology of the animals, dominated. Additional studies were done to explain the atypical results of the conducted biological tests at the time. In the current study, the bioaccumulated manganese concentration in the soft tissues of mussels was measured to investigate its influence on the MBA results. In both DSP negative and DSP positive samples, which were prepared for the analysis according to the modified US EPA 3052 method, the concentration of the bioaccumulated manganese was performed on the atomic absorption spectrometer using flame atomic absorption spectroscopy technique. The analysis revealed higher concentration of manganese in 87% of DSP positive samples and the expressed per wet weight ranged from 0.15 to 5.38 mg kg−1. The mean concentration of manganese for all DSP positive samples was 1.78 mg kg−1, while for DSP negative samples, it was 48% lower (0.93 mg kg−1). The highest concentration of manganese in DSP positive samples was measured in February 2011. Since the low concentrations of lipophilic biotoxins gymnodimines (GYMs) and spirolides (SPXs) were also detected in the analysed DSP positive samples in the parallel studies, the results obtained in this study suggest future investigations of the connection between the concentration of manganese and lipophilic biotoxins.