Clinical Presentation Of Patients Research Articles

Oral Mucosal Lesions in Patients Attending Dermatology Outpatient Department of a Tertiary Care Center in Kathmandu: A Descriptive Cross-sectional Study.

Oral mucosal lesions though mostly benign, may impair the quality of life of patients. Some may even progress to malignancies. Many physicians, including dermatologists, tend to skip oral examinations, missing many important diagnoses. Understanding the frequency and types of oral mucosal lesions in dermatological settings can help in early diagnosis, referral and adequate treatment. This study was done to determine demographic characteristics and clinical presentations of patients with oral mucosal lesions presenting to the out-patient department (OPD) of dermatology in Nepal Armed Police Force (APF) Hospital, Kathmandu. This cross-sectional descriptive study was conducted after obtaining the ethical approval from the Institutional Review Committee of Nepal APF Hospital. Retrospective data of 264 patients presenting with oral mucosal lesions to the dermatology OPD were collected from 1st January 2021 to 31st December 2023 by using a pre-formed proforma. Data was entered in SPSS software and descriptive statistics were computed. Out of 13,832 cases, oral mucosal lesion was seen in 264 (1.90%) cases among which 153 (57.96%) cases were males with male female ratio of 1.37:1. Most common age group affected was 31-45 years 96 (36.36%). Buccal mucosa 86 (32.57%) was the commonest site involved followed by tongue 73 (27.65%). Aphthous ulcer 82 (31.06%) was the commonest lesion found followed by oral candidiasis 25 (9.46%) and oral lichen planus 24 (9.09%). Aphthous ulcer was the commonest oral mucosal lesion seen in patients visiting dermatology outpatient department of Nepal APF Hospital, with buccal mucosa being the commonest site affected.

A Retrospective Study of Nasopharyngeal Carcinoma: Clinical and Treatment Outcome

Abstract Background Nasopharyngeal carcinoma is an uncommon disease endemic to Southern China, Southeast Asia, North Africa, and the Arctic. It is uncommon in southern India, and hence its treatment outcome and prognosis are not widely studied in these areas. In this study, our primary objective was to document the clinical presentation of patients with nasopharyngeal carcinoma in southern India and to analyze the response to treatment and follow-up. Materials and Methods The study is an institutional-based retrospective study including 26 patients with histology-proven nasopharyngeal carcinoma from January 2011 to December 2017. All patients were treated with standard protocol of intensity modulated radiotherapy with concurrent chemotherapy. Data on patient demographics, clinical presentation, treatment, and follow-up were analyzed. Results The median age at presentation in our study was 53.5 years. The most common histopathology subtype was nonkeratinizing undifferentiated carcinoma (65%). Nodal metastasis was the most common clinical presentation seen in 88% of the patients. Post-treatment, distant metastasis to the iliac bone, lung, liver, and spleen was seen in two patients. Complete remission was achieved in 65%, whereas three patients developed recurrence after the completion of treatment. Five-year progression-free survival was 69%. Conclusion Nasopharyngeal carcinoma has a good response to concurrent chemoradiation. Long-term follow-up and planning surveillance strategies are essential post-treatment. Disease awareness to aid in early diagnosis and optimize management is imperative as observed from the delayed presentations in southern India.

Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study

BackgroundTo investigate the peripheral nervous system involvement in S sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials suggesting hyperexcitability in the central nervous system.MethodsThe clinical presentation of patients with genetically confirmed sialidosis was recorded. Neurophysiological studies, including nerve conduction studies (NCSs), F-wave studies, and needle electromyography (EMG), were performed on these patients.ResultsSix patients (M/F: 2:4) were recruited. In addition to the classical presentation, intermittent painful paresthesia was noted in four patients, and three of whom reported it as the earliest symptom. In the NCSs, one patient had reduced compound muscle action potential amplitudes in the right ulnar nerve, while another patient had prolonged distal motor latency in the bilateral tibial and peroneal nerves. Prolonged F-wave latency (83.3%), repeater F-waves (50%), and neurogenic polyphasic waves in EMG (in 2 out of 3 examined patients) were also noted. Interestingly, a very late response was noted in the F-wave study of all patients, probably indicating lesions involving the proximal peripheral nerve or spinal cord.ConclusionIn addition to the central nervous system, the peripheral nervous system is also involved in sialidosis, with corresponding clinical symptoms. Further study on these phenomena is indicated.

Clinical Profile and Natural History of Children with Ventricular Septal Defects in Tripoli, Libya from 1996 through 2009

Introduction and Objectives: Ventricular septal defect (VSD) is the most common congenital heart diseases, it accounts 40%. This study carried out to describe the epidemiological characters and clinical presentation of patients with VSD in Western and Southern Libya, and to evaluate spontaneous versus surgical closure in different types.  Patients and Methods It is hospital case series study conducted by reviewing the medical records of 1092 patients followed at cardiology outpatient department (OPD) of Tripoli Children Hospital from 1996 through 2009, the data abstracted from medical records and filed in a worked sheet, Excel and SPSS software used to analyze the data.  Results We identified 1092 patients. The results revealed that 30.9% diagnosed during the first month, and 49.7% from1 to 12 months. From 1092 patients; 50.8% have peri- membranous VSD, 18.8% muscular, and 13% having an apical type. 97.2% of males have peri-membranous VSD where muscular and apical seen more in female, p value = 0.001. Cardiac murmur is the common presenting sign 61.3%, 9.3% have feature of Down syndrome. Positive Family history of CHD in 9.9% with significant relationship between family history and type of VSD (peri- membranous type), P value = 0.001. Small VSDs accounts 66.9%, large VSDs 16.1%, followed by medium size VSD 11.8% of cases. Patients with large VSDs more prone for hospital admission as 101 (57.4%) from 176 patients were admitted to hospital, followed by moderate size (45%), P value = 0.001. 70.3% of patients with large VSD need either medical or surgical treatment, P value = 0.001. Spontaneous closure seen in 17%, 0.6% died, while 41.9% still on follow up. Muscular VSD shows the highest tendency for spontaneous closer as 72% closed by the age of 2 years.  Conclusion We conclude that peri- membranous VSD is the most common type. Two thirds of patients had been diagnosed in the first year of life. Big defects and some of moderate VSDs need either medical or surgical treatment. Spontaneous closer is usually seen in the first 2 years of life.  Recommendations We highly recommend for further multi-center study all over the country to get reliable data on the prevalence of congenital heart diseases and the incidence of ventricular septal defect in our population.

Chronic basilar artery occlusion: a retrospective monocentric study.

Acute basilar artery occlusion is a life-threatening medical emergency with a highly elevated mortality rate when left untreated. Little is known about symptoms and clinical progression of chronic occlusions. The aim of this study was to systematically analyze the clinical presentation of patients with chronic basilar artery occlusion (CBAO). Monocentric retrospective analysis of adult patients with CBAO was treated between 2015 and 2023 in the Department of Neurology, Klinikum Kassel. Inclusion criteria were basilar artery occlusion without brainstem infarction as well as patients with a basilar artery occlusion in whom revascularization could not be achieved and a follow-up period of at least 3months. A total of 15 patients were found. In five patients basilar artery occlusion was diagnosed as an incidental finding, four patients had neurological symptoms but no proven brainstem infarction (3 × transient ischemic attack, 1 × isolated posterior artery infarct) and six patients presented with acute basilar artery occlusion and a follow-up > 3months. The most common site of occlusion was midbasilar (80%, n = 12), isolated (n = 7) or in combination with other locations (n = 5). In all cases collateralization could be demonstrated by the posterior communicatingarteries. The most common vascular risk factors (VRF) were hypertension (100%) and hypercholesterolemia (67%). Patients with CBAO may present with only mild symptoms or may even be asymptomatic. This condition may be survived for a long time. The high percentage of vascular risk factors and further cerebral vessel occlusions suggest arteriosclerosis as the major causing factor of CBAO.

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

Inherited hearing impairment is a remarkably heterogeneous monogenic condition, involving hundreds of genes, most of them with very small (< 1%) epidemiological contributions. The exception is GJB2, the gene encoding connexin-26 and underlying DFNB1, which is the most frequent type of autosomal recessive non-syndromic hearing impairment (ARNSHI) in most populations (up to 40% of ARNSHI cases). DFNB1 is caused by different types of pathogenic variants in GJB2, but also by large deletions that keep the gene intact but remove an upstream regulatory element that is essential for its expression. Such large deletions, found in most populations, behave as complete loss-of-function variants, usually associated with a profound hearing impairment. By using CRISPR-Cas9 genetic edition, we have generated a murine model (Dfnb1em274) that reproduces the most frequent of those deletions, del(GJB6-D13S1830). Dfnb1em274 homozygous mice are viable, bypassing the embryonic lethality of the Gjb2 knockout, and present a phenotype of profound hearing loss (> 90 dB SPL) that correlates with specific structural abnormalities in the cochlea. We show that Gjb2 expression is nearly abolished and its protein product, Cx26, is nearly absent all throughout the cochlea, unlike previous conditional knockouts in which Gjb2 ablation was not obtained in all cell types. The Dfnb1em274 model recapitulates the clinical presentation of patients harbouring the del(GJB6-D13S1830) variant and thus it is a valuable tool to study the pathological mechanisms of DFNB1 and to assay therapies for this most frequent type of human ARNSHI.

Preoperative factors associated with 180°, 270°, and 360° labral tears

BackgroundLarge, circumferential glenoid labral tears are an uncommon injury affecting young, athletic patients. There is limited data describing the clinical presentation of patients with larger tears, especially 270- and 360-degree labral tears. Additionally, exam and imaging findings have poor reliability in diagnosing these tears. The purpose of this study is to determine the clinical presentation among patients presenting with small (less than 180 degrees), medium (180-270 degrees), and large (270-360 degrees) labral tears. MethodsThis is a retrospective comparative study of consecutive patients surgically managed by a single shoulder surgeon for all glenoid labral tears from 2018-2022. The primary outcome was demographic and preoperative clinical risk factors. Demographic data including age, sex, hand dominance, BMI, as well as clinical presentation (subluxation vs dislocation, instability history, and participation in contact sports) were recorded. ResultsA total of 188 patients met inclusion criteria: 101/188 (53.70%) patients with small tears, 43/188 (22.90%) patients with medium tears, and 44/188 (23.40%) patients with large tears. Individuals with large and medium-sized labral tears were more likely to have participated in contact sports compared to those with smaller labral tears (p=0.003). Medium and smaller tears were more likely to present as dominant side injury (p=0.02). Furthermore, medium and large tears were more likely to present with anterior instability symptoms compared to smaller tears, which more frequently presented with posterior instability and pain (p=0.003). ConclusionMales participating in contact sports were the most common demographic population presenting with large, 270 to 360-degree labral tears. Instability was the primary complaint rather than pain, and compared to small tears, medium and large sized tears were more likely to present with primary anterior instability. While arthroscopic repair of 270 to 360-degree labral tears can yield excellent clinical outcomes similar to smaller tears, identifying factors associated with larger glenoid labral tears may help in surgical planning and patient counseling.

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia.

Background and Objectives: Inherited metabolic disorders (IMDs) are a group of genetic disorders characterized by defects in enzymes or transport proteins involved in metabolic processes. These defects result in an abnormal accumulation of metabolites and thus interfere with the body's metabolism. A variety of IMDs exist and differential diagnosis is often challenging. Our objective was to gain insight into the genetic basis of IMDs and the correlations between specific genetic mutations and clinical presentations in patients admitted at various hospitals in the Madinah region of the Kingdom of Saudi Arabia. Material and Methods: Whole exome sequencing (WES) has emerged as a powerful tool for diagnosing IMDs and allows for the identification of disease-causing genetic mutations in individuals suspected of IMDs. This ensures accurate diagnosis and appropriate management. WES was performed in four families with multiple individuals showing clinical presentation of IMDs. Validation of the variants identified through WES was conducted using Sanger sequencing. Furthermore, various computational analyses were employed to uncover the disease gene co-expression and metabolic pathways. Results: Exome variant data analysis revealed missense variants in the BTD (c.1270G > C), ASL (c.1300G > T), GBE1 (c.985T > G) and AGL (c.113C > G) genes. Mutations in these genes are known to cause IMDs. Conclusions: Thus, our data showed that exome sequencing, in conjunction with clinical and biochemical characteristics and pathological hallmarks, could deliver an accurate and high-throughput outcome for the diagnosis and sub-typing of IMDs. Overall, our findings emphasize that the integration of WES with clinical and pathological information has the potential to improve the diagnosis and understanding of IMDs and related disorders, ultimately benefiting patients and the medical community.

Proposing the "Continuum of UTI" for a Nuanced Approach to Diagnosis and Management of Urinary Tract Infections.

Patients with suspected UTIs are categorized into 3 clinical phenotypes based on current guidelines: no UTI, asymptomatic bacteriuria (ASB), or UTI. However, all patients may not fit neatly into these groups. Our objective was to characterize clinical presentations of patients who receive urine tests using the "continuum of UTI" approach. This was a retrospective cohort study of a random sample of adult noncatheterized inpatient and emergency department encounters with paired urinalysis and urine cultures from 5 hospitals in 3 states between January 01, 2017, and December 31, 2019. Trained abstractors collected clinical (eg, symptom) and demographic data. A focus group discussion with multidisciplinary experts was conducted to define the continuum of UTI, a 5-level classification scheme that includes 2 new categories: lower urinary tract symptoms/other urologic symptoms and bacteriuria of unclear significance. The newly defined continuum of UTI categories were compared to the current UTI classification scheme. Of 220,531 encounters, 3392 randomly selected encounters were reviewed. Based on the current classification scheme, 32.1% (n = 704) had ASB and 53% (n = 1614) did not have a UTI. When applying the continuum of UTI categories, 68% of patients (n = 478) with ASB were reclassified as bacteriuria of unclear significance and 29% of patients (n = 467) with "no UTI" were reclassified to lower urinary tract symptoms/other urologic symptoms. Our data suggest the need to reframe our conceptual model of UTI vs ASB to reflect the full spectrum of clinical presentations, acknowledge the diagnostic uncertainty faced by frontline clinicians, and promote a nuanced approach to diagnosis and management of UTIs.

Sarcoidosis. A review of diagnosis, clinical features and treatment

Introduction: Sarcoidosis is a progressive chronic multisystemic inflammatory disease of unclear pathogenesis, which presents with noncaseating granulomas and is complicated to diagnose due to the variable clinical presentation of patients. Sarcoidosis may attack any organ, but especially the pulmonary, cutaneous, lymphatic, ocular, hepatic and splenic systems. The most frequent presentations are prolonged cough, rash, visual problems, peripheral lymphadenopathy, tiredness, and occasional abnormality of the chest X-ray. The diagnostic evaluation of sarcoidosis is difficult and often involves a combined effort of clinical data and appropriate imaging modalities. Purpose: The purpose of this article is to review the available literature on the epidemiology, clinical manifestations and management of patients with sarcoidosis Materials and method: The available literature in PubMed was reviewed to write the article, using the keywords ,,sarcoidosis”, ,,cardiac sarcoidosis”, ,,pulmonary sarcoidosis” and ,,cutaneous sarcoidosis”. Conclusion: Sarcoidosis is associated with a significant increase in patient mortality, as well as decreased quality of life and physical disability. Efforts to accurately predict disease progression allow for more comprehensive and personalized patient care. As a life threatening disease, sarcoidosis needs to be diagnosed early and treated appropriately.

Twenty-Three-Year-Old Patient With Chronic Pain and Fainting Spells-A Clinical Vignette.

Care for and clinical presentation of patients with connective tissue disorders, specifically hypermobile Ehlers-Danlos syndrome, is poorly understood. Diagnosis can often take years, and comprehensive care can be difficult to coordinate for these patients. This vignette aims to show the clinical characteristics of a young female with Hypermobile Ehlers-Danlos, as well as the evaluation of her diagnostic presentation and subsequent treatment. The demographic data of this population are yet to be established, and as it can vary widely between individuals, it is important to recognize symptoms that distinguish this disorder from others with similar presentations. Education of physicians on this syndrome will allow earlier recognition of symptoms and lead to better outcomes of these patients overall.

Artificial intelligence-based analysis of the spatial distribution of abnormal computed tomography patterns in SARS-CoV-2 pneumonia: association with disease severity

BackgroundThe substantial heterogeneity of clinical presentations in patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia still requires robust chest computed tomography analysis to identify high-risk patients. While extension of ground-glass opacity and consolidation from peripheral to central lung fields on chest computed tomography (CT) might be associated with severely ill conditions, quantification of the central-peripheral distribution of ground glass opacity and consolidation in assessments of SARS-CoV-2 pneumonia remains unestablished. This study aimed to examine whether the central-peripheral distributions of ground glass opacity and consolidation were associated with severe outcomes in patients with SARS-CoV-2 pneumonia independent of the whole-lung extents of these abnormal shadows.MethodsThis multicenter retrospective cohort included hospitalized patients with SARS-CoV-2 pneumonia between January 2020 and August 2021. An artificial intelligence-based image analysis technology was used to segment abnormal shadows, including ground glass opacity and consolidation. The area ratio of ground glass opacity and consolidation to the whole lung (GGO%, CON%) and the ratio of ground glass opacity and consolidation areas in the central lungs to those in the peripheral lungs (GGO(C/P)) and (CON(C/P)) were automatically calculated. Severe outcome was defined as in-hospital death or requirement for endotracheal intubation.ResultsOf 512 enrolled patients, the severe outcome was observed in 77 patients. GGO% and CON% were higher in patients with severe outcomes than in those without. Multivariable logistic models showed that GGO(C/P), but not CON(C/P), was associated with the severe outcome independent of age, sex, comorbidities, GGO%, and CON%.ConclusionIn addition to GGO% and CON% in the whole lung, the higher the ratio of ground glass opacity in the central regions to that in the peripheral regions was, the more severe the outcomes in patients with SARS-CoV-2 pneumonia were. The proposed method might be useful to reproducibly quantify the extension of ground glass opacity from peripheral to central lungs and to estimate prognosis.

RISK FACTORS, CLINICAL PROFILE, AND MANAGEMENT OF PATIENTS PRESENTING WITH EPISTAXIS: A CROSS-SECTIONAL STUDY

Objective: To analyze risk factors, clinical profile, and management strategies for patients presenting with epistaxis. Methods: This was a cross-sectional study that was undertaken in the department of otorhinolaryngology at a tertiary care medical college. 60 adult patients presenting with epistaxis were included in this study. Demographic details, such as age and gender, were noted. Patients were evaluated for the presence of risk factors such as hypertension, bleeding disorder, or clotting defects. The clinical presentation of patients was also studied. Patients were managed as per standard protocol. Statistical analysis was done using SSPS 21.0 software, and p&lt;0.05 was taken as statistically significant. Results: There were 44 males (73.33%) and 16 females (26.67%) with a M: F ratio of 1:0.36. The mean age of male and female patients was found to be 63.48±16.18 and 58.46±13.24, respectively. Assault or road traffic accidents, which were seen in 15 (25.00%) patients. The other common causes included hypertension (18.33%), nose picking (15%), and medication (such as antiplatelet or anticoagulant drugs)-induced (10%). Out of 60 patients, the majority (60.00%) were stable hemodynamically. 11 (18.33%) patients were found to have elevated blood pressure in addition to epistaxis. 5 (11.67%) patients were in hypotension, and hence fluid resuscitation was required. In 2 (3.33%) patients, the airway needed to be secured because of a compromised airway. The majority of the patients (75.00%) responded well to conservative measures. Posterior nasal packing (in addition to anterior nasal packing), cauterization, closed reduction of facial fractures, surgery for nasal mass, and functional endoscopic sinus surgery in remaining patients. Conclusion: Facial trauma, hypertension, and nose picking were the most common cases of epistaxis. Majority of the patients were hemodynamically stable and could be treated conservatively with measures such as medical management and anterior nasal packing.

Severity of Dengue Viral Infection Based on Clinical and Hematological Parameters among Pakistani Patients.

The global burden of dengue infections has increased dramatically. Early diagnosis of dengue infection is critical to proper medical management to avoid further complications in patients. This study was geared to assess the severity of dengue infections based on clinical and hematological examinations. A cross-sectional study was conducted among febrile patients with dengue infection in a teaching hospital in Pakistan. Blood samples were investigated for dengue-specific antibodies (IgM and IgG) and the nonstructural 1 antigen. The clinical findings of each subject were noted to assess the severity of the infection. Tests for hematological parameters were performed. Of 130 patients with confirmed dengue infection, 23 had severe and 107 had nonsevere dengue. Patients with severe dengue experienced mucosal bleeding (71.4%), fluid accumulation (57.1%), shock (35.7%), and gastrointestinal bleeding (28.6%). The most significant hematological findings among severe and nonsevere patients with dengue infection were thrombocytopenia, leukopenia, and a raised hematocrit level (P < 0.001). Patients with severe dengue infection showed marked thrombocytopenia, with a mean platelet count of 49.96 × 109 platelets/L. The clinical presentation of patients with dengue infection along with hematological markers are the most important clues for the diagnosis of, prognosis of, and therapy for dengue infection. Thrombocytopenia, leukopenia, and raised hematocrit levels were the most significant hematological parameters when assessing the severity of dengue infection.

Ethnic Disparities in Clinical Presentation of Patients with Early‐Onset Alzheimer’s Disease

AbstractBackgroundEarly‐onset Alzheimer’s Disease (EOAD) affects patients under age 65 and may present with non‐amnestic features. Black patients are half as likely as White patients to be diagnosed despite twice as many risk factors. Ethnic disparities in EOAD have not been fully characterized.MethodsWe retrospectively collected data on ethnicity, level of education, Montreal Cognitive Assessment (MoCA) scores on EOAD patients diagnosed between 2017 and 2022 at The University of Chicago Memory Center.ResultsOf 88 total patients, 60 (68.8%) identified as White and 28 (31.8%) identified as Black. Age at diagnosis was 57.3 ± 5.24 years in Black patients compared to 55.9 ± 5.69 years In White patients. Average time to diagnosis was longer in Black patients (5 ± 9.21 yrs.) vs White patients (3.5 ± 6.44 yrs). Black patients had lower MoCA scores than Whites at presentation (12.17 ± 6.91 vs 15.15 ± 5.92), despite similar education levels among Black vs. White patients (14.71 ± 2.30 vs 15.21 ± 3.00).Black patients more commonly displayed an amnestic profile (19 or 67.9%) than a non‐amnestic presentation (9 or 32.1%), although 2 patients (7.14%) presented with visual symptoms suggestive of posterior cortical atrophy (PCA), 5 (17.9%) patients had prominent language symptoms suggestive of logopenic primary progress aphasia (l‐PPA) and 1 (3.6%) patient had an executive presentation, suggestive of executive variant of AD (EAD). In White patients, 11 (18.3%) were diagnosed with PCA, 10 (16.7%) with EAD and 8 (13.3%) with l‐PPA.Differences were noted in the application of diagnostic tests, in that neuropsychological testing (NPT) and CSF testing were less often ordered in Black patients (NPT: 8 (29%) in Blacks vs 45 (75%) Whites, p = 0.001; CSF: 4 (14%) Blacks vs 30 (50%) Whites, p = 0.002).ConclusionIn our cohort, Black patients with EOAD were on average older, more advanced, and experience longer delays and differences in diagnostic management than their White counterparts. Further work is needed to characterize the barriers to diagnosis for Black patients with EOAD and the potential differences in clinical presentations.

Data driven criteria for genetic testing result in an efficient selection of patients with genetic dementia in a clinical setting

AbstractBackgroundIdentification of patients with familial dementia is important as this may explain disease in families, raises the possibility of predictive testing for relatives and enables participation in trials. Previously proposed clinical criteria to offer genetic testing based on diagnosis, age, and familial history do not capture the diversity of clinical presentation of patients. We aimed to develop data‐derived clinical criteria and prospectively validated these by applying them in a memory clinic.MethodIn a 2,5‐year period (1‐1‐2010 until 30‐6‐2012) 1138 patients visited the Alzheimer Center Amsterdam and underwent routine diagnostic work‐up (van der Flier et al 2018). The average age of individuals was 62 years, 41% of the patients being female. Patients provided DNA for research purposes, which allowed us to test 1022 (90%) of the patients for variants in 54 dementia related genes (exome sequencing), APP duplications and C9orf72‐repeat expansions. Data driven clinical criteria for genetic testing were formulated to optimally identify carriers of a causal mutation. Subsequently, we offered genetic testing according to the new clinical criteria to all patients in the Alzheimer Center Amsterdam for 1 year (9‐2021 to 9‐2022).ResultWe identified genetic mutations causing dementia in 34 patients, which accounted for 3.3% of all patients. Previous criteria would have selected 23% of these patients for testing and identified 47% of the mutation carriers. We formulated optimized clinical criteria(as shown in Figure 1), that would have identified 88% of mutation carriers(30/34 carriers) in 26% of all patients. This efficient selection was prospectively validated in 2021. A 149 out of 517 patients(29%) were eligible for genetic testing based on the new criteria. Of these 90 patients(60.4%) opted for testing and 59(39.6%) declined testing or clinicians decided against offering the test. We found 12 out of 90(13%) to carry a mutation. This confirms the efficient selection as 10 mutation carriers were anticipated in the tested group based on our research data.ConclusionData driven clinical criteria for genetic testing efficiently selected individuals with genetic dementia in a real‐life implementation. Memory clinics can adopt these clinical criteria to offer genetic testing to the patients most likely to benefit.

Age and Gender Differences with Clinical Presentation of Patients with Histopathological and CT-Scan Confirmed Parapharyngeal Mass

Background: Parapharyngeal Mass can occur in different age and gender group with varied clinical features. Objective: The purpose of the present study was to see the age and gender differences with clinical presentation of patients with histopathological and CT-scan confirmed parapharyngeal mass. Methodology: This was a cross sectional type of study. This study was carried out in the Department of Radiology and Imaging at Dhaka Medical College, Dhaka, Bangladesh. This study was carried out from January 2014 to December 2016. Clinically suspected cases of para pharyngeal space mass lesions attended in the otolaryngology and Radiology &amp; Imaging department of Dhaka Medical College, Dhaka, Bangladesh were enrolled in this study. The patient in this study was evaluated according to the management plan for surgery followed in Otolaryngology department, which includes History, Clinical examination, CT-scan and Histopathology. Detail history about the illness, chief complains taken in formatted history sheet. All patients were undergone CT examination of neck in the Department of Radiology and Imaging at Dhaka Medical College, Dhaka. After resection of the mass, the specimen was sent to histopathological examination to the Department of Pathology at Dhaka Medical College, Dhaka, Bangladesh. Results: Male and female ratio was 2.57:1. Maximum 54% patients were belonged to 21-40 years’ age group followed by 38% 41 and above age group and 8.0% up to 20 years’ age group. Mean (±SD) age of the patients was 37.76 (14.82). Presence of mass, fever, malaise, pain, otalgia or fullness in ear, dysphagia, facial nerve dysfunction, trismus, dyspnea and deviation of tongue were the main presenting features of this study. Out of all lesions 58% were in left parapharyngeal space and 42% were in right. Of all patients, 20% had nerve sheath tumour (14% schwannoma &amp; 6% neurofibroma), 6% had paraganglioma, 14% had chronic nonspecific lymphadenitis, 12% had tuberculosis, 16% had squamous cell carcinoma (invasion from adjacent spaces). Parotid pleomorphic adenoma (6%) &amp; mucoepidermoid carcinoma (4%). Rests had, lipoma (4.0%), branchial cleft cyst (4.0%), lymphoma (6.0%), and abscess (2.0%). After histopathological evaluation 24% were malignant and 76% were benign. Conclusion: In conclusion majority of the study population are young adult male presented with mass, fever and malaise. Journal of Current and Advance Medical Research, January 2023;10(1):25-30

Low Erythropoietin to Albumin Ratio in the Serum Predicts Less Reversibility of Renal Impairment with Poorer Prognosis in Multiple Myeloma

Background: Renal impairment (RI) is one of the most common clinical presentations in patients with multiple myeloma (MM) and contributes to its morbidity and mortality. In consistent with this, renal injury is an important factor considered high risk for MM in recently updated NCCN clinical practice guideline. It has been demonstrated that RI is reversible in about half the patients with MM and reversal of renal dysfunction significantly affects the prognosis of MM (Blood Cancer J. 2014 Aug 1;4(8):e235). Because reversibility of RI was a more important prognostic factor than response to anti-myeloma therapy in patients with MM with RI (Clin Lymphoma Myeloma Leuk. 2022 Aug;22(8):626-634; Eur J Haematol. 2000 Sep;65(3):175-81), identification of accurate non-invasive predictive markers for differentiating reversible / irreversible RI in MM patients treated with anti-myeloma therapy is undoubtedly needed. Methods: We conducted a retrospective study to evaluate the predicting value of serum erythropoietin (EPO) to albumin ratio (EPO/albumin) of MM patients treated with anti-myeloma therapy for reversibility of RI and overall survival (OS). RI was defined as an estimated glomerular filtration rate (eGFR) that was measured before treatment ≦50 ml/min per 1.73 m 2 by the simplified Modification of Diet in Renal Disease formula, and the definition of the reversibility of RI were also based on eGFR measurements, as previous publications described (J Clin Oncol. 2010 Nov 20;28(33):4976-84). Renal complete response (CRrenal) was defined as a sustained improvement from an eGFR baseline value of lower than 50 to ≥60 mL/min/1.73 m 2. Partial renal response (PRrenal) was defined as a sustained recovery of eGFR at the time of diagnosis of less than 15 to 30-59 mL/min/1.73 m 2; when achieved CRrenal or PRrenal, the MM patients with RI is defined as the renal responder group, otherwise, the MM patients with RI is defined as the renal non-responder group. Total 52 newly diagnosed MM patients with RI were analyzed in this study, 27 cases in the renal responder group and 25 cases in the renal non-responder group. Bortezomib with high-dose dexamethasone were used as the treatment of choice for such patients. Serum EPO levels were determined using chemiluminescence immunoassay. In our research, mean ± standard deviation (SD) was used to describe the normally distributed variables data while median with interquartile range (IQR) was used to describe the nonparametric variables data. P&amp;lt;0.05 was taken to indicate significance in all analyses. Results: There were significant differences in serum EPO and albumin, hemoglobin and RDW between the renal responder group and the non-responder group. The renal responder group had higher EPO [median: 44.06 (IQR: 160.96) vs 13.58(26.49)] and RDW [median:53(IQR:15) vs 48(9)], lower serum albumin (mean:30.21±SD: 7.78 vs 35.79±6.01) and hemoglobin. (mean:66.56±SD:16.42 vs 78.76±19.79), compared with the non-responder group. Of note, there were no significant differences in serum β2-Microglobulin, creatinine and eGFR at baseline between the two groups. As expected, serum EPO was negatively correlated with serum albumin (r = -0.257, P = 0.033). Likewise, EPO/albumin was negatively correlated with albumin (r = -0.42, P = 0.002); In contrast, EPO/albumin was positively correlated with serum EPO (r = 0.98, P &amp;lt; 0.001). Importantly, our study showed that EPO/albumin were independent predictor of the reversal of RI in MM patients. The optimal cutoff for EPO/albumin was determined via ROC analysis and was determined to be 1.77 U/g. The area under the curve was 0.784. According to the optimal cutoff value, low and high EPO/albumin groups were defined. The data confirmed that the group (n=36) with low EPO/albumin in the serum had shorter OS in MM with RI, compared with the group (n=16) with high EPO/albumin. Conclusions: Our findings demonstrated that low EPO/albumin in the serum predicts less reversibility of RI with poorer prognosis in MM, it is a reliable biomarker for predicting reversibility of RI in MM patients before anti-myeloma therapy. Figure 1

Case Report: Severe ischemic priapism as the clinical presentation in patient with chronic myeloid leukemia (CML) treated by proximal shunt

Background: Priapism refers to an erection of the penis that persists for four hours or more and is not associated with sexual arousal or stimulation. This condition is thought to be caused by abnormal production of blood cells in the bone marrow, which leads to the release of certain chemicals into the bloodstream. The current article presents a severe ischemic priapism case, and assesses and contrasts the documented instances of patients with chronic myelogenous leukemia (CML) who experienced priapism as their primary clinical symptom over the last two decades. Case presentation: The 21-year-old male patient presented with persistent and painful erections for three days. Further tests revealed he had CML and ischemic priapism. He was treated with distal shunting and proximal shunting with cytoreductive therapy to resolve the symptoms. Conclusions: Priapism is a medical emergency that can cause permanent damage to the erectile tissue if not treated promptly. Prolonged and painful erections can cause ischemia, leading to tissue damage and decreased function. If priapism is caused by an underlying medical condition; delaying treatment can allow the underlying condition to progress and become more difficult to treat.

Artificial Intelligence ECG Analysis in Patients with Short QT Syndrome to Predict Life-Threatening Arrhythmic Events

Short QT syndrome (SQTS) is an inherited cardiac ion-channel disease related to an increased risk of sudden cardiac death (SCD) in young and otherwise healthy individuals. SCD is often the first clinical presentation in patients with SQTS. However, arrhythmia risk stratification is presently unsatisfactory in asymptomatic patients. In this context, artificial intelligence-based electrocardiogram (ECG) analysis has never been applied to refine risk stratification in patients with SQTS. The purpose of this study was to analyze ECGs from SQTS patients with the aid of different AI algorithms to evaluate their ability to discriminate between subjects with and without documented life-threatening arrhythmic events. The study group included 104 SQTS patients, 37 of whom had a documented major arrhythmic event at presentation and/or during follow-up. Thirteen ECG features were measured independently by three expert cardiologists; then, the dataset was randomly divided into three subsets (training, validation, and testing). Five shallow neural networks were trained, validated, and tested to predict subject-specific class (non-event/event) using different subsets of ECG features. Additionally, several deep learning and machine learning algorithms, such as Vision Transformer, Swin Transformer, MobileNetV3, EfficientNetV2, ConvNextTiny, Capsule Networks, and logistic regression were trained, validated, and tested directly on the scanned ECG images, without any manual feature extraction. Furthermore, a shallow neural network, a 1-D transformer classifier, and a 1-D CNN were trained, validated, and tested on ECG signals extracted from the aforementioned scanned images. Classification metrics were evaluated by means of sensitivity, specificity, positive and negative predictive values, accuracy, and area under the curve. Results prove that artificial intelligence can help clinicians in better stratifying risk of arrhythmia in patients with SQTS. In particular, shallow neural networks’ processing features showed the best performance in identifying patients that will not suffer from a potentially lethal event. This could pave the way for refined ECG-based risk stratification in this group of patients, potentially helping in saving the lives of young and otherwise healthy individuals.