delay in diagnosis
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Author(s):  
Mohammed A Madkhali ◽  
Jenifer-Kris Hao ◽  
Mohammad Saud Khan ◽  
Himani Sharma ◽  
Alexa Jaume ◽  
...  

Abstract Glutamic acid decarboxylase 65kD autoantibody (GAD65Ab) is frequently detected in patients with refractory epilepsy and stiff person syndrome (SPS). In contrast to T1D, the pathological role of GAD65Ab in neurological disorders is still debatable. As a result, the implementation of possible immunotherapy is usually delayed. This report presents two cases of GAD65Ab associated brain autoimmunity and their different management. We present clinical data and discuss management based on available evidence in the reviewed literature. Both cases presented with acute on chronic neurological symptoms and were GAD65Ab positive. Case 1, a 30-year-old man with a history of early-onset T1D at 14 months, followed by cryptogenic temporal epilepsy at 11 years of age, presented with intractable seizures. Case 2, a 48-year-old woman, presented with a history of recurrent severe headaches, cognitive impairment, decreased memory, and behavioral symptoms. GAD65Ab was detected in both patients’ sera. CSF GAD65Ab was only checked and positive in case 1. Case 2 was diagnosed with limbic encephalitis, treated with immunotherapy, and showed a remarkable clinical improvement. Case 1 with refractory epilepsy failed multiple AEDs and Responsive-Stimulator System (RNS) treatments. He was finally diagnosed with autoimmune epilepsy. The delay in diagnosis resulted in a lost opportunity for early immunotherapy. In conclusion, autoantibody screening and early initiation of immunotherapy should be considered to manage GAD65Ab associated neurological disorders.


2022 ◽  
Author(s):  
Elham Rahmanipour ◽  
fahimeh attarian ◽  
Mohammad Ghorbani ◽  
Bijan Shahbazkhani ◽  
Vahid Ghavami ◽  
...  

Abstract Background Celiac disease (1) mostly diagnosed base on positive serology and duodenal mucosal atrophy, but some patients have negative serology and their diagnosis have some limitation, it delay in diagnosis likely accompanied a poor prognosis and high risk of developing complications of CD. The aim of this study was determent clinical profile of patients with Seronegative CD (SNCD). Methods in this retrospective study, 1115+8 patients, that evaluated for CD with mucosal atrophy included between 2010 to2020. All patients with IgA deficiency other IgG based serology for diagnosis of celiac was done and if these antibodies were negative consider as possible SNCD. If they had positive DQ2-DQ8, and clinical symptoms or had positive challenge test after12 months of GFD were considered as SNCD. Results of total 1115 patients 27 (2.4%) had seronegative mucosal atrophy of duodenum and diagnosed as a SNCD (96.2% marsh3), the mean age and BMI in SNCD patients were significantly higher than other CD patients (p<0.05). Conclusion The prevalence of SNCD was 2.4% that likely related to over weighting, so clinicians should be considered high possible of seronegative CD in patients with over weighting and mucosal atrophy of duodenum.


Author(s):  
Navneet Singla ◽  
Archit Latawa

AbstractDecompressive craniectomy is a life-saving procedure done for innumerable etiologies. Though, not a technically demanding procedure, it has its own complications. Among many, sinking flap syndrome or syndrome of the trephined or paradoxical herniation of brain is frequently underestimated. It results from the pressure difference between the atmospheric pressure and the intracranial pressure causing the brain to shift inward at the craniectomy site. This can present with either nonspecific symptoms leading to delay in diagnosis or acute neurological deterioration, memory disturbances, weakness, confusion, lethargy, and sometimes death if not treated. Cranioplasty is a time validated procedure used to treat paradoxical brain herniation with good and early neurological recovery. We, here in, are going to describe a case report in which the paradoxical herniation occurred after cranioplasty which has not been described in literature.


Author(s):  
Mukta Meel ◽  
Mukesh Kumar Bhaskar ◽  
Arpita Jindal

AbstractPleomorphic carcinoma is a malignant and aggressive primary lung carcinoma that occurs at a rate of approximately 0.3%. This rarely encountered tumor may present a diagnostic challenge to neuroradiologists and pathologists, as it has propensity to present as hemorrhagic brain metastasis with unknown primary and result in delay in diagnosis that could impact clinical outcome. Herein, we report a unique case in its presentation in a 56-year-old female, having symptomatic brain metastasis prior to the discovery of the pulmonary lesion.


Cancers ◽  
2022 ◽  
Vol 14 (2) ◽  
pp. 362
Author(s):  
Felix Krenzien ◽  
Nora Nevermann ◽  
Alina Krombholz ◽  
Christian Benzing ◽  
Philipp Haber ◽  
...  

Intrahepatic cholangiocarcinoma (iCC) is distinguished as an entity from perihilar and distal cholangiocarcinoma and gallbladder carcinoma. Recently, molecular profiling and histopathological features have allowed further classification. Due to the frequent delay in diagnosis, the prognosis for iCC remains poor despite major technical advances and multimodal therapeutic approaches. Liver resection represents the therapeutic backbone and only curative treatment option, with the functional residual capacity of the liver and oncologic radicality being deciding factors for postoperative and long-term oncological outcome. Furthermore, in selected cases and depending on national guidelines, liver transplantation may be a therapeutic option. Given the often advanced tumor stage at diagnosis or the potential for postoperative recurrence, locoregional therapies have become increasingly important. These strategies range from radiofrequency ablation to transarterial chemoembolization to selective internal radiation therapy and can be used in combination with liver resection. In addition, adjuvant and neoadjuvant chemotherapies as well as targeted therapies and immunotherapies based on molecular profiles can be applied. This review discusses multimodal treatment strategies for iCC and their differential use.


2022 ◽  
Vol 10 (19) ◽  
pp. 41-47
Author(s):  
Ana L. Pichardo-Ávalos

Pilocytic astrocytoma of the cerebellum in the pediatric age is the most frequent benign tumor lesion of the nervous system in children according to the WHO. International literature mentions that being low-grade tumors they have a high curative capacity. If the entire tumor is resected, when it is completely removed, survival increases with a high quality of life for children who presented this pathology and was treated on time. However, the delay in diagnosis and therefore in its treatment could generate the possibility of tumor transformation, the malignant nature of the transformed injuries has a very high morbidity and mortality, without mentioning that the degree of cognitive sequelae greatly affects the quality of life of the survivors. That is why the training of pediatric and non-pediatric first contact doctors imply a great responsibility since it gives the population and patients suffering from this nosology the possibility to improve their future life, as well as reduce the cost of the impact caused by the injuries they suffer. On the other hand, these tumors can transform generating devastating prognoses, without taking into account the economic and social repercussions of patients suffering from a low-grade tumor. When it is detected and treated assertively in a timely manner, it offers them greater opportunities than those who did not have such a timely diagnosis.


Children ◽  
2022 ◽  
Vol 9 (1) ◽  
pp. 56
Author(s):  
Yi-Ting Cheng ◽  
Yu-Shin Lee ◽  
Jainn-Jim Lin ◽  
Hung-Tao Chung ◽  
Yhu-Chering Huang ◽  
...  

Kawasaki disease (KD) is an acute systemic vasculitis of unknown cause that mainly affects infants and children and can result in coronary artery complications if left untreated. A small subset of KD patients with fever and cervical lymphadenitis has been reported as node-first-presenting KD (NFKD). This type of KD commonly affects the older pediatric population with a more intense inflammatory process. Considering its unusual initial presentation, a delay in diagnosis and treatment increases the risk of coronary artery complications. Herein, we report the case of a 9-year-old female with fever and neck mass that rapidly deteriorated to shock status. A diagnosis of KD was made after the signs and symptoms fulfilled the principal diagnostic criteria. The patient’s heart failure and blood pressure improved dramatically after a single dose of intravenous immunoglobulin. This case reminds us that NFKD could be the initial manifestation of KDSS, which is a potentially fatal condition. We review the literature to identify the overlapping characteristics of NFKD and KDSS, and to highlight the importance of early recognition of atypical KD regardless of age. We conclude that unusually high C-reactive protein, neutrophilia, and thrombocytopenia serve as supplemental laboratory indicators for early identification of KDSS in patients with NFKD.


2021 ◽  
Vol 10 (2) ◽  
pp. 3-6
Author(s):  
Kewal Shrestha ◽  
Sujit Kumar Bhattacharjee ◽  
Kumari Ragani Yadav

Background: Dermatophytes are keratinophilic and keratinolytic fungi which are responsible for dermatophytosis. There are three genera of dermatophytes; Trichophyton, Microsporum and Epidermophyton. As they have affinity to keratin rich tissue, they produce dermal inflammatory response, intense itching and cosmetically poor appearance. The varied clinical presentation of tinea results in delay in diagnosis, poor compliance in follow up of cases, and consequently spread of infection in the community has rekindled interest in rapid identification of species. Materials and Methods: A hospital based cross sectional study was carried out in the department of Microbiology, Nobel medical college from January 2019 to December 2019. Clinically suspected 200 cases of dermatophytosis attending Out Patient Department were studied. Isolation and identification was done by various tests like macroscopic, microscopic and biochemical tests. Results: Out of 200 specimens, 138 (69%) were skin scraping, 42 (21%) were nail clipping and 20 (10%) were hair stubs. Highest incidence was seen in the age group 21-40 years with 115 (57.5%) cases followed by 41-60 years 46 (23%) cases. In our study male preponderance of 158 (79%) and female of 42 (21%) were seen. Tinea corporis was found to be the commonest clinical type with 96 (48%) cases followed by tinea unguinum, 42 (21%), Tinea cruris 10 (11.36%), Tinea capitis 5 (5.68%), Tinea faciei 4 (4.54%), Tinea pedis 2 (2.27%). Among the fungal isolates Trichophyton rubrum (67.04%) was the most common etiological agent followed by Trichophyton mentagrophytes (13.63%), Epidermophyton 10 (11.36%), Trichophyton violaceum 4 (4.54%) and Epidermophyton floccosum 3 (3.4%). Conclusion: The most common clinical presentation was tinea corporis followed by tinea unguinum. T. rubrum was the most common etiological agent of dermatophytosis


2021 ◽  
Vol 9 (12) ◽  
pp. 423-428
Author(s):  
Sandesh Gawade ◽  
Divyangi Sarvankar ◽  
Shivani Chikhale

Background- COVID-19, an emerging coronavirus disease is a major health problem. It has markedly affected the routine medical procedures including Gastrointestinal(GI) endoscopies. Inspite of guidelines suggested by various GI societies,for safe GI endoscopy procedures in period of COVID pandemic, most of the endoscopists as well as the patients were hesitant for the endoscopy procedures.We sought to measure the impact of the same on GI endoscopy activity in Pune. Method- A pre-validated questionnaire containing 28 questions was sent across to the GI endoscopy surgeons. Responses were collected to assess the perception of GI endoscopists regarding the practice of endoscopy and the risk of self-contamination during COVID-19 Pandemic. This data was analysed using appropriate statistical applications. Result-51 GI endoscopists from Pune participated in our study out of which 80.3% (41/51) were involved in the management of COVID-19 patients outside the endoscopy department. During the study period, 86.28% (44/51) of endoscopists had to cancel procedures on grounds of COVID19 pandemic.Symptoms compatible with COVID-19 infection were reported by 29.41% (15/51) of the endoscopists out of which 13 (86%) responders had a positive RTPCR test for COVID-19 Conclusion- COVID-19 pandemic has seriously affected GI endoscopy practice. COVID 19 infection rate was also remarkable in endoscopists and endoscopy staff. As the screening of patients with GI problems was hampered, there was definitive delay in diagnosis and treatment. Nevertheless, endoscopy centers should adapt and make changes in their practice to face future pandemic, emphasizing safety of staff without delaying patient care.


2021 ◽  
Vol 59 (6) ◽  
pp. 715-719
Author(s):  
D. G. Timokhina ◽  
T. V. Dubinina ◽  
A. B. Demina ◽  
O. A. Krichevskaya ◽  
Sh. F. Erdes

Axial spondyloarthritis (axSpA) is a chronic inflammatory disease with predominant involvement of the sacroiliac joints (SIJ) and/or the spine. Despite the fact that the prevalence of axSpA is almost the same in men and women, there is evidence of a delay in diagnosis and a more severe course of the disease in females. The available reports on the progression of structural changes in the SIJ in men and women with early axSpA are contradictory. Meanwhile, the analysis of radiographic progression in the SIJ has fundamental importance both for timely diagnosis and for assessing the effectiveness of therapy in axSpA. Such studies have not yet been carried out in the Russian Federation.Objective: to assess the radiographic progression of sacroiliitis (SI) over 3 years in men and women with early axSpA.Material and methods. The study included patients from the cohort of early axSpA CORSAR, formed at the V.A. Nasonova Research Institute of Rheumatology. Currently, it includes 175 patients with axSpA. We analyzed the data of 64 patients, followed for at least 3 years. To assess the radiographic progression of the disease at baseline and after 3 years, the sum of X-ray stages of SI in the left and right SIJ was determined (the total stage of SI). Progression was assessed by the change in the total stage of SI in the right and left SIJ (0-8) during the observation period. We also calculated the proportion of patients with deterioration (increase in the total stage of SI by at least 1 stage), with improvement (decrease in the total stage of SI by at least 1 stage) and without progression. In order to fully exclude the error in measuring the radiographic progression of SI, we counted patients with “net” progression, that is, the proportion of patients with improvement was subtracted from the proportion of patients with deterioration.Results. Among 64 patients with early axSpA, there were 37 (57.8%) men and 27 (42.2%) women. For 3 years, the median of the total stage SI in men was 0 [0; 1], in women - 0 [0; 2] (p>0.05). When assessing the progression of the total stage SI over 3 years, no significant differences were found between the number of men and women with improvement, with deterioration, “net” progression and without progression. Men with early axSpA showed a higher level of C-reactive protein (CRP) at baseline, women had higher BASDAI and ASDAS CRP values after 3 years. In 8% of patients, there was a regression of X-ray signs of SI.Conclusion. The radiographic progression of SI in patients with early axSpA does not depend on gender and disease activity. In some patients with early axSpA, reverse development of structural damage to the SIJ is possible.


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