scholarly journals Clinical Analysis of NMOSD with Area Postrema Syndrome as Initial Symptom

2021 ◽  
Author(s):  
Ting Liu ◽  
Lijuan Li ◽  
BinJi Liang ◽  
Xian Li ◽  
Lin Ma
Keyword(s):  
Life Support ◽  
Area Postrema ◽  
Clinical Manifestations ◽  
Clinical Analysis ◽  
Nausea And Vomiting ◽  
Initial Symptom ◽  
Mri Findings ◽  
Initial Manifestation ◽  
Initial Symptoms ◽  
Significant Clinical Improvement

Abstract Objective: Patients with neuromyelitis optica spectrum disease (NMOSD) with the initial manifestation of area postrema syndrome (APS) often have unexplained nausea and vomiting and are easily misdiagnosed for the NMOSD. The purpose of this study was to report and discuss clinical analysis, including diagnosis and treatment of 4 cases of NMOSD with APS as the first symptom.Methods: Four patients with intractable nausea and vomiting were selected for the analysis and finally the cases were confirmed for the NMOSD. All of these patients started with misdiagnosis and mismanagement initially.Results: Among the 4 patients included in this study, 3 were admitted to the department of gastroenterology at the onset of the disease, and 2 of them were not correctly diagnosed and treated on time due to misdiagnosis. Therefore, their symptoms worsened, and they needed to be transferred to ICU for life support. No obvious early medulla lesions were found in one patient. One patient was treated with intravenous immunoglobulin, methylprednisolone, and plasma exchange but there was no significant clinical improvement, and then the disease was relapsed during the treatment with low-dose rituximab.Conclusion: The clinical manifestations of NMOSD are complex and diverse, and the initial symptoms, onset age of the patient, and MRI findings can all influence the clinicians' judgment of the disease. Early identification of the APS and timely therapy can prevent visual and physical disabilities, even respiratory failure and cardiac arrest. Therefore, it is necessary to identify specific and sensitive serum and imaging markers for predicting the prognosis and recurrence of the disease.

Headache as the Initial Manifestation of Acute Aortic Dissection Type A

Cephalalgia ◽  
1998 ◽  
Vol 18 (8) ◽  
pp. 583-584 ◽  
Author(s):  
C Stöllberger ◽  
J Finsterer ◽  
C Fousek ◽  
FR Waldenberger ◽  
H Haumer ◽  
...  
Keyword(s):  
Chest Pain ◽  
Aortic Dissection ◽  
Initial Symptom ◽  
Thoracic Pain ◽  
Initial Manifestation ◽  
Initial Symptoms ◽  
Rare Differential Diagnosis ◽  
History Of ◽  
Diastolic Murmur ◽  
Base Of The Skull

The most common initial symptom of aortic dissection is chest pain. Other initial symptoms include pain in the neck, throat, abdomen and lower back, syncope, paresis, and dyspnoea. Headache as the initial symptom of aortic dissection has not been described previously. A 61-year-old woman with a history of migraine and arterial hypertension developed continuous bifrontal headache. Two hours later, right-sided thoracic pain and a diastolic murmur were suggestive of aortic dissection that was confirmed by echocardiography and subsequent surgery. The dissection commenced in the ascending aorta and involved all cervical arteries until the base of the skull. Headache as the initial manifestation of aortic dissection was assumed due to either vessel distension or pericarotid plexus ischemia. Aortic dissection has to be considered as a rare differential diagnosis of frontal headache, especially in patients who develop aortic regurgitation or chest pain for the first time.

scholarly journals Diagnosis of malignancies in children with musculoskeletal complaints

2005 ◽  
Vol 123 (1) ◽  
pp. 21-23 ◽  
Author(s):  
Marcela Gonçalves ◽  
Maria Teresa Ramos Ascensão Terreri ◽  
Cássia Maria Passarelli Lupolli Barbosa ◽  
Cláudio Arnaldo Len ◽  
Lucia Lee ◽  
...  
Keyword(s):  
Musculoskeletal Pain ◽  
Clinical Features ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Final Diagnosis ◽  
Lymphocytic Leukemia ◽  
Common Finding ◽  
Initial Symptom ◽  
Musculoskeletal Complaints ◽  
Initial Manifestation

CONTEXT: Musculoskeletal complaints may be associated with neoplasias as an initial manifestation of the disease. When these symptoms predominate at the onset of the disease, the differential diagnosis includes several rheumatic diseases. OBJECTIVE: To assess the frequency, clinical features and types of cancer manifested in children presenting with musculoskeletal complaints over a seven-year period. TYPE OF STUDY: Retrospective. SETTING: Discipline of Allergy, Clinical Immunology and Rheumatology, Universidade Federal de São Paulo - Escola Paulista de Medicina. METHODS: The medical records of patients with musculoskeletal complaints and final diagnosis of malignant disease were reviewed. The data collected were: age when symptoms initially presented, age at diagnosis, clinical features presented, laboratory findings, and the initial and final diagnoses. RESULTS: A final diagnosis of cancer was found in nine out of 3,528 patients (0.25%) whose initial symptom was musculoskeletal pain. The mean time between disease onset and final diagnosis was five months. The most common features presented were pauciarticular arthritis or arthralgia involving the large joints. Juvenile rheumatoid arthritis was the most frequent initial diagnosis, in four out of nine patients. Anemia was the most frequent initial hematological change. Six out of eight patients had an increased erythrocyte sedimentation rate. The lactate dehydrogenase level was raised in five out of eight patients. The malignancies found included acute lymphocytic leukemia, acute myeloid leukemia, lymphoma, neuroblastoma and Ewing's sarcoma. DISCUSSION: The frequency of neoplasia in patients with musculoskeletal pain resembled reports in the literature. Consumptive symptoms were not the warning signal in most of our patients. In subsidiary tests, progressive anemia was the most common finding, although the peripheral blood cell count may continue to be normal for weeks or months after symptom onset. CONCLUSION: Malignancy always needs to be ruled out in cases of children with musculoskeletal complaints. Uncharacteristic clinical manifestations and nonspecific laboratory tests may cause difficulty in the final diagnosis, and rigorous investigation should be performed.

Lymphedema As The Initial Symptom of Lymphoma

2021 ◽  
Author(s):  
Kun Hao ◽  
Jianfeng Xin ◽  
Yuguang Sun ◽  
Wenbin Shen
Keyword(s):  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Bone Marrow Aspiration ◽  
Clinicopathological Features ◽  
Initial Symptom ◽  
Initial Manifestation ◽  
Lymph Node Enlargement ◽  
Medical University ◽  
Ct And Mri

Abstract Background: To investigate the clinical features of lymphoma with lymphedema as the initial manifestation.Methods: We performed a retrospective study of 4676 patients with lymphedema treated at the Department of Lymphatic Surgery, Beijing Shijitan Hospital, Capital Medical University, from May 22, 2007, to December 31, 2018. Clinical manifestations and a series of conventional analyses (laboratory tests, ultrasonography, magnetic resonance imaging, computed tomography, and radionuclide imaging) were used to study these cases. Bone marrow aspiration and biopsy tests were used to support the diagnosis of lymphoma. Eleven patients of lymphoma with lymphedema as the first symptom were selected, and their clinicopathological features were analyzed retrospectively.Results: A total of 11 cases of lymphedema caused or aggravated by lymphoma were found, including 1 case of upper extremity edema, 9 cases of lower extremity edema and 1 case of systemic edema. These patients often accompanied by clinical symptoms such as feeble, emaciation, pain, mass, lymph node enlargement and so on. The proportion of patients with abnormal tumor markers was 66.7% (4/6), the prevalence of anemia among patients with malignant lymphedema was 45.5% (5/11), and the positive rates of ultrasonography, CT and MRI were 100.0% (7/7), 100.0% (8/8) and 100.0% (2/2), respectively. Eleven cases with lymphoma were confirmed by pathological diagnosis. To analyze the clinicopathological features, the main points of diagnosis were summarized.Conclusions: Lymphoma with lymphedema as the first symptom is extremely rare. It has a hidden onset. To avoid delays in the diagnosis and therapy of lymphoma, physicians should actively look for signs or symptoms of lymphedema during the follow-up period and promptly manage patients developing problems.

scholarly journals Cervical lymph node enlargement as the initial manifestation of rectal cancer

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Tong-Hui Xie ◽  
Peng Su ◽  
Jian-Guo Hong ◽  
Hui Zhang
Keyword(s):  
Colorectal Cancer ◽  
Rectal Cancer ◽  
Lymph Node ◽  
Lymph Nodes ◽  
Cervical Lymph Node ◽  
Clinical Manifestations ◽  
Initial Symptom ◽  
Cervical Lymph Nodes ◽  
Supraclavicular Lymph Nodes ◽  
Lymph Node Enlargement

Abstract Background Colorectal cancer is a very common malignant tumor worldwide. The clinical manifestations of advanced colorectal cancer include the changes in bowel habits, hematochezia, diarrhea, local abdominal pain and other symptoms. However, the colorectal cancer with an initial symptom of cervical lymph node enlargement is extremely rare. In this article, we report a case of rectal cancer presenting with cervical lymph nodes enlargement as the initial symptom. Case presentation A 57-year-old woman was admitted to our hospital for cervical lymph node enlargement which was accidentally detected during physical examination. Computed tomography scan revealed multiple enlarged lymph nodes in the neck. Cervical ultrasound showed normal thyroid gland and multiple left supraclavicular lymph nodes enlargement. The patient underwent lymph nodes biopsy and pathologic results showed metastatic adenocarcinoma. The subsequent lower gastrointestinal endoscopy revealed a mucosal bulge lesion located at rectus and biopsy revealed adenocarcinoma. The patient underwent rectal cancer resection. She is alive with no evidence of recurrence or new tumors 2 years after surgery. Conclusions Cervical lymph node metastasis is a rare metastatic way in colorectal cancer. This is the first case of rectal cancer presenting with cervical lymph nodes metastases as the initial symptom. Surgical resection combined with postoperative chemotherapy improved long-term prognosis of the patient. This rare metastatic way of rectal cancer should be paid attention for clinicians.

Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients

2020 ◽  
Vol 33 (6) ◽  
pp. 793-802 ◽  
Author(s):  
Weijing Kong ◽  
Yan Meng ◽  
Liping Zou ◽  
Guang Yang ◽  
Jing Wang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Molecular Characteristics ◽  
Speech Delay ◽  
Initial Symptoms ◽  
Mps Iii ◽  
Mps Iiia

AbstractObjectivesSanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III.MethodThirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system.ResultsAmong the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations.ConclusionWhen language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.

scholarly journals Impact of APOE ε4 genotype on initial cognitive symptoms differs for Alzheimer’s and Lewy body neuropathology

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Jagan A. Pillai ◽  
James Bena ◽  
Aaron Bonner-Jackson ◽  
James B. Leverenz
Keyword(s):  
Lewy Body ◽  
Statistical Significance ◽  
Carrier Status ◽  
Initial Symptom ◽  
Cognitive Symptoms ◽  
Clinical Dementia Rating ◽  
Apoe Ε4 ◽  
Initial Symptoms ◽  
Adjusted Model ◽  
The Impact

Abstract Background APOE ε4 carrier status is known to increase odds of amnestic presentations with Alzheimer’s pathology. It is unknown how APOE ε4 carrier status impacts odds of specific initial cognitive symptoms in the presence of Lewy body pathology. Here we evaluate the impact of APOE ε4 genotype on initial cognitive symptoms among those with Alzheimer’s disease pathology (ADP) and Lewy-related pathology (LRP). Methods A retrospective cohort study of 2288 participants with neuropathology confirmed ADP or LRP in the National Alzheimer’s Coordinating Center database, who had initial cognitive symptoms documented and had a Clinical Dementia Rating-Global (CDR-G) score ≤ 1 (cognitively normal, MCI, or early dementia). Unadjusted and adjusted logistic regression models taking into account age at evaluation, sex, and education examined the relationship between APOE ε4 genotype and initial symptoms (memory, executive, language visuospatial) among ADP with LRP and ADP-LRP groups. Results One thousand three hundred three participants met criteria for ADP alone, 90 for LRP alone, and 895 for co-existing ADP and LRP (ADP-LRP). Younger age increased odds of non-amnestic symptoms across all three groups. In the adjusted model among ADP, APOE ε4 carriers had higher odds of amnestic initial symptoms 1.5 [95% CI, 1.7–2.14, p = 0.003] and lower odds of initial language symptoms 0.67 [95% CI, 0.47–0.96, p = 0.03] than non-carriers. The odds for these two symptoms were not different between ADP and mixed ADP-LRP groups. Female sex and higher education increased odds of initial language symptoms in the ADP group in the adjusted model. In the unadjusted model, APOE ε4 carriers with LRP had a higher odds of visuospatial initial symptoms 21.96 [95% CI, 4.02–110.62, p < 0.0001], while no difference was noted for initial executive/attention symptoms. Among LRP, the odds of APOE ε4 on amnestic symptom was not significant; however, the interaction effect evaluating the difference in odds ratios of amnestic symptom between ADP and LRP groups also did not reach statistical significance. Conclusions The odds of specific initial cognitive symptoms differed between ADP and LRP among APOE ε4 carriers compared to non-carriers. The odds of initial amnestic symptom was higher among ADP APOE ε4 carriers and the odds of visuospatial initial symptom was higher with LRP APOE ε4 carriers. This supports the hypothesis that APOE ε4 differentially impacts initial cognitive symptoms together with underlying neuropathology.

scholarly journals AB0750 FUNCTIONAL CONDITION OF KIDNEYS IN THE LONG-TERM COURSE OF SLE IN ADOLESCENTS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1403.2-1403
Author(s):  
L. Bohmat ◽  
N. Shevchenko ◽  
I. Bessonova
Keyword(s):  
Renal Function ◽  
Lupus Nephritis ◽  
Lupus Erythematosus ◽  
Disease Duration ◽  
Renal Involvement ◽  
Clinical Manifestations ◽  
Clinical Analysis ◽  
Average Dose ◽  
One Year

Background:Lupus nephritis is the most severe and adverse systemic lupus erythematosus (SLE) syndrome. According to modern recommendations, the clinical manifestations of active nephritis should be taken under medical control in 6 months after the start of the disease’s treatment1.Objectives:The aim of this study was to examine the functional status of the kidneys in children with SLE in the course of the disease for more than one year.Methods:The analysis included case histories of 43 patients with SLE, mostly females (41), aged 7 to 18 years (mean age 14.4 years) with disease duration of 4.75 ± 0.58 years of whom 22 were less than three years, 21 - more than three years. All children received corticosteroid therapy, at the time of the examination the average dose was 13.85 ± 1.86 mg per day in terms of prednisolone. The second component of therapy was azathioprine (average dose 97.61 ± 2.11 mg). All children received hydroxychloroquine (5 mg/kg per day).To determine the functional state of the kidneys a clinical analysis of urine, a study of the scope of specific gravity of urine during the day (Zymnytsky test), the content of creatinine and urea in serum to determine the glomerular filtration rate (GFR), the level of microalbuminuria per day were evaluated.Results:Renal involvement in the developed SLE occurred in 73.08% of patients. Among them, therapy during the first 6 months was considered quite effective in 58.06% of patients. It was found that in children with disease duration from one to three years proteinuria was registered in 68.18%, a decrease in GFR in 4.45% and hyperfiltration in 9.09%. In the group of children with duration of SLE more than three years revealed deeper changes in renal function; there was proteinuria in 90.47%, the frequency of GFR decreased was in 19.04%, a decrease of renal concentration function was in 14.28% of cases.Indicators of renal function in children with SLE depending on the duration of the disease (M ± m)IndicatorDuration of the diseasefrom 1 year to 3 years n = 22over 3 yearsn = 21Creatinine, mmol/l0,080 ± 0,0140,090 ± 0,018Мочевина, mmol/l5,66 ± 1,425,63 ± 1,61GFR, ml/min117,05 ± 19,68100,20 ± 18,98 *Microalbuminuria, mg/day24,41 ± 13,1334,73 ± 24,76Density min1,007 ± 0,0051,006 ± 0,005Density max1,024 ± 0,0051,019 ± 0,005 ***р<0,03;**р<0,01 the probability of differences when comparing between groupsConclusion:Long-term follow-up of children with SLE over one year reveals a prolongation of renal dysfunction, which worsens after three years, and is the basis for the development of irreversible renal impairment.References:[1]European evidence-based recommendations for the diagnosis and treatment of childhood-onset lupus nephritis: the SHARE initiative /Noortje Groot, Nienke de Graeff, Stephen D Marks et all. //Ann Rheum Dis. 2017 Dec;76(12):1965-1973.Disclosure of Interests:None declared

scholarly journals SAT0651-HPR BARRIERS IN DIAGNOSING RHEUMATOID ARTHRITIS – A FOCUS GROUP STUDY ON THE GENERAL PRACTITIONERS’ PERSPECTIVES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1284.1-1285
Author(s):  
A. S. Lundberg ◽  
B. A. Esbensen ◽  
E. M. Hauge ◽  
A. De Thurah
Keyword(s):  
Rheumatoid Arthritis ◽  
General Practice ◽  
Focus Group ◽  
General Practitioners ◽  
Clinical Picture ◽  
Clinical Manifestations ◽  
University Hospital ◽  
Text Book ◽  
Clear Cut ◽  
Initial Symptoms

Background:Early treatment, before three months from symptom onset of rheumatoid arthritis (RA), is essential to increase the likelihood of remission and to prevent permanent joint damage (1). However, it has been shown that only 20% of the patients are seen within the first three months, and the median delay in general practice has been estimated to 4 months (range 2–9) (2).Objectives:To explore the barriers in diagnosing RA from the general practitioners’ (GPs) perspective.Methods:We conducted a qualitative study based on focus group interviews. We recorded the interviews digitally and transcribed verbatim. The transcribed interviews were analyzed based on content analysis (3), by using Nivo 12. Sample size was determined by thematic saturation.Results:In total ten GPs participated in three different focus groups. 40 % were female, mean age was 53 years (range 37-64), and mean year since specialist authorization as GP was 16 years (range 5-23). 60 % of the GPs worked in a practice located within the referral area of a university hospital; the remaining within the referral area of a regional hospital.Four themes emerged in the analysis: 1) When the patient is not a text book example, referring to the difficulty of identifying relevant symptoms among all clinical manifestations from the joints as described by the patients, 2)The importance of maintaining the gatekeeper function, referring to the societal perspective, and the GPs responsibility to refer the right patients to secondary care, 3)Difficulties in referral of patients to the rheumatologist,referring to perceived differences in the collaboration with rheumatologists. The GPs experienced that it was sometimes difficult to be assisted by rheumatologists, especially when the clinical picture was not ‘clear cut’. Finally, (4)Para-clinical testing, can it be trusted?referring to challenges on the evaluation of especially biomarkers.The overarching theme was:Like finding a needle in a haystack, covering the GPs difficulties in detecting RA among the many patients in general practice who appear to be well and at the same time have symptoms very similar to RA.Conclusion:The GPs experienced that RA was a difficult diagnosis to make. The immediate challenge was that RA patient’s initial symptoms often resembled those of more common and less serious conditions, and that investigative findings such as biomarkers can be negative at the early state of the disease. At the same time, the collaboration with rheumatologists was sometimes seen as a hurdle, when the clinical picture was not ‘clear cut’.In order to facilitate earlier diagnosis of RA in general practice, the GPs and rheumatologists need to focus on these barriers by strengthening mutual information and collaboration.Physicians should remain vigilant to patients who have conditions that do not resolve as expected with treatment, who have symptoms that persist, or who do not look well despite negative investigative findings.References:[1]Aletaha D, et al. JAMA, Oct 2018.[2]Kiely P, et al. Rheumatology, Jan 2009.[3]Braun V. Qualitative research in psychology. 2006, 3(2), 77-101Disclosure of Interests:Anne Sofie Lundberg: None declared, Bente Appel Esbensen: None declared, Ellen-Margrethe Hauge Speakers bureau: Fees for speaking/consulting: MSD, AbbVie, UCB and Sobi; research funding to Aarhus University Hospital: Roche and Novartis (not related to the submitted work)., Annette de Thurah Grant/research support from: Novartis (not relevant for the present study)., Speakers bureau: Lily (not relevant for the present study).

MRI Findings and Clinical Manifestations in Rathke's Cleft Cyst

1999 ◽  
Vol 141 (10) ◽  
pp. 1055-1061 ◽  
Author(s):  
N. Saeki ◽  
K. Sunami ◽  
Y. Sugaya ◽  
A. Yamaura
Keyword(s):  
Clinical Manifestations ◽  
Rathke’S Cleft Cyst ◽  
Mri Findings ◽  
Rathke's Cleft Cyst ◽  
Rathke's Cleft

Disequilibrium in patients with atherosclerosis

Neurology ◽  
1998 ◽  
Vol 51 (2) ◽  
pp. 570-573 ◽  
Author(s):  
Vincent I.H. Kwa ◽  
Laura H. Zaal ◽  
Bernard Verbeeten ◽  
Jan Stam ◽  
Keyword(s):  
Sickness Impact Profile ◽  
Statistical Significance ◽  
Structured Interview ◽  
The Body ◽  
Pontine Nuclei ◽  
Mri Findings ◽  
Initial Manifestation ◽  
Walking Test ◽  
Walking Tests ◽  
Body Care

Objective: To examine the clinical relevance of isolated pontine hyperintense lesions(PHLs) on MRI in patients with atherosclerosis.Methods: Seventeen atherosclerotic patients with isolated PHL on MRI were compared with 17 patients without PHL and were matched for age, sex, and initial manifestation of atherosclerosis. Subjects and observer were blinded to the MRI findings. We assessed symptoms, impairment, and disability with a structured interview and neurologic examination as well as disability scales.Results: On all items, patients with PHL scored worse that did their controls. We found the largest differences in frequencies of symptoms of disequilibrium, difficulties with speech or swallowing, the Timed Walking Test, and the body care and movement subscale of the Sickness Impact Profile. Except for disequilibrium (p = 0.04), these differences did not reach statistical significance. Abnormal tandem-walking tests were more frequent in patients than they were in controls. Pyramidal signs were equally distributed.Conclusions: We propose PHL as a cause of symptoms of disequilibrium in patients with atherosclerosis. Symptoms are probably elicited by dysfunction of the corticopontine fibers, the pontocerebellar fibers, or the pontine nuclei.

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