Heterogeneity of Carboxypeptidase Activity in Infantile-Onset Galactosialidosis

1992 ◽  
Vol 7 (1_suppl) ◽  
pp. S31-S40 ◽  
Author(s):  
P.T. Ozand ◽  
G.G. Gascon
Keyword(s):  
Clinical Features ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Laboratory Findings ◽  
Biochemical Characteristics

The clinical presentation and laboratory findings in seven patients with neonatal/infantile-onset galactosialidosis are presented. We detected no carboxypeptidase activity in two of these patients, while an enzyme with different apparent Km, or both Km and Vm, were found in five others. We could not establish a correlation between the biochemical characteristics of carboxypeptidase and the age of onset, progression, or other clinical features of galactosialidosis. (J Child Neurol 1992;7(Suppl):S31-S40).

scholarly journals Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Amira Mobarak ◽  
Heba Dawoud ◽  
Wesam A. Mokhtar ◽  
Abdelrahim A. Sadek ◽  
Gihan Mohamed Bebars ◽  
...  
Keyword(s):  
Negative Correlation ◽  
Retrospective Review ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Delayed Diagnosis ◽  
Initial Presentation ◽  
Anion Gap ◽  
Blood Gas ◽  
Biochemical Characteristics ◽  
Positive Correlation

PA and MAA have numerous nonspecific presentations, potentially leading to delayed diagnosis or misdiagnosis. In this paper, we present the clinical and biochemical characteristics of MMA and PA patients at initial presentation. Results. This is a retrospective review of 20 patients with PA ( n = 10 ) and MMA ( n = 10 ). The most observed symptoms were vomiting (85%) and refusing feeding (70%). Ammonia was 108.75 ± 9.3  μmol/l, showing a negative correlation with pH and bicarbonate and positive correlation with lactate and anion gap. Peak ammonia did not correlate with age of onset ( r = 0.11 and p = 0.64 ) or age at diagnosis ( r = 0.39 and p = 0.089 ), nor did pH ( r = 0.01 , p = 0.96 ; r = − 0.25 , p = 0.28 ) or bicarbonate ( r = 0.07 , p = 0.76 ; r = − 0.22 , p = 0.34 ). There was no correlation between ammonia and C3 : C2 ( r = 0.1 and p = 0.96 ) or C3 ( r = 0.23 and p = 0.32 ). The glycine was 386 ± 167.1  μmol/l, and it was higher in PA ( p = 0.003 ). There was a positive correlation between glycine and both pH ( r = 0.56 and p = 0.01 ) and HCO3 ( r = 0.49 and p = 0.026 ). There was no correlation between glycine and ammonia ( r = − 0.435 and p = 0.055 ) or lactate ( r = 0.32 and p = 0.160 ). Conclusion. Clinical presentation of PA and MMA is nonspecific, though vomiting and refusing feeding are potential markers of decompensation. Blood gas, lactate, and ammonia levels are also good predictors of decompensation, though increasing levels of glycine may not indicate metabolic instability.

Von-Willebrand-Syndrom Typ 1 und Schwangerschaft

2011 ◽  
Vol 31 (S 01) ◽  
pp. S11-S13 ◽  
Author(s):  
J. Oppermann ◽  
A. Siegemund ◽  
R. Schobess ◽  
U. Scholz
Keyword(s):  
Clinical Presentation ◽  
Bleeding Disorder ◽  
Bleeding Tendency ◽  
Laboratory Findings ◽  
Mucous Membranes ◽  
Von Willebrand

SummaryThe von Willebrand-Jürgens syndrome (VWJS) type 1 is a common hereditary bleeding disorder with a bleeding tendency located especially in the mucous membranes. Women suffering from VWJS type 1 show menorrhagia and prolonged postoperative bleedings. During pregnancy the clinical presentation varies by the increase of the von Willebrand factors.In this article the laboratory findings and the clinical presentation of patients with VWJS during pregnancy was examined. The necessity of interventions during pregnancy and at the time of delivery was under consideration.

Atoptic Dermatitis in Adults. The Clinical Features, Laboratory Findings and Patient Backgrounds.

1994 ◽  
Vol 56 (1) ◽  
pp. 80-85 ◽  
Author(s):  
Masayoshi NISHIMOTO ◽  
Toshihiko NUMAHARA ◽  
Kuniyuki NAKASHIMA ◽  
Michio SASAKI ◽  
Tomoko YOSHIDA ◽  
...  
Keyword(s):  
Clinical Features ◽  
Laboratory Findings

scholarly journals Clinical characteristics of refractory mycoplasma pneumoniae pneumonia in children treated with glucocorticoid pulse therapy

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhenli Zhu ◽  
Tongqiang Zhang ◽  
Wei Guo ◽  
Yaoyao Ling ◽  
Jiao Tian ◽  
...  
Keyword(s):  
Clinical Features ◽  
Mycoplasma Pneumoniae ◽  
Pulse Therapy ◽  
Roc Curve Analysis ◽  
Related Factors ◽  
Laboratory Findings ◽  
Usage Rate ◽  
Group I ◽  
Group Ii ◽  
Mycoplasma Pneumoniae Pneumonia

Abstract Background To observe the effect of corticosteroids in the treatment of children with refractory Mycoplasma pneumoniae pneumonia (RMPP) under different doses, to summarize the clinical features of children treated with glucocorticoid pulse therapy. Methods The clinical data of 125 children with RMPP hospitalized in Tianjin Children’s Hospital from September 2018 to October 2019 were retrospectively analyzed. They were divided into two groups according to the dose of hormone. Compare the clinical features, laboratory findings, and imaging between the two groups, and use meaningful related indicators as ROC curves to find reference indicators for pulse therapy. Results (1) The median age of the group II was older than that of the group I(P < 0.05). (2) We found more severe presentations, higher incidence of extra-pulmonary complications and more serious radiological findings in group II, which needed oxygen more often, higher the hormone, higher usage rate of gamma globulin, higher usage rate of bronchoscopy, and higher incidence of plastic bronchitis(P < 0.05). (3) WBC, CRP, LDH, FER, D-D dimer, APTT, TT, PCT, IL-6 and the percentage of neutrophils in peripheral blood in Group II were higher than those in Group I(P < 0.05). (4) In ROC curve analysis, CRP, LDH, FER, and neutrophils of leukocyte classification were independent related factors that could be used as valuable predictors of methylprednisolone pulse therapy for RMPP in children. The cut-off values were CRP44.45 mg/L, LDH590IU/L, FER411ng/L, and neutrophils in leukocyte classification were 73.75%, respectively. Conclusion CRP ≥ 44.45 mg/L, LDH ≥ 590 IU/L, FER ≥ 411 ng/L, neutrophil≥73.75%, lung consolidation, and pleural effusion may be predictors that guide the treatment of RMPP with pulse dose of GC.

scholarly journals AB0327 DRUG-INDUCED LUPUS ERYTHEMATOSUS SECONDARY TO ANTI-TNF-Α AGENTS IN PATIENTS WITH SPONDYLOARTHRITIS AND PSORIATIC ARTHRITIS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1188.2-1189
Author(s):  
A. Martins ◽  
D. Santos Oliveira ◽  
F. R. Martins ◽  
M. Rato ◽  
F. Oliveira Pinheiro ◽  
...  
Keyword(s):  
Psoriatic Arthritis ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Disease Duration ◽  
Age At Diagnosis ◽  
Categorical Variables ◽  
Drug Induced ◽  
Laboratory Findings ◽  
Conversion Rates ◽  
Tnf Α

Background:Induction of autoantibodies is frequently observed in patients treated with TNF-α antagonist and the possible development of drug-induced lupus erythematosus (DILE) remains a matter of concern. The prevalence of DILE secondary to anti-TNF-α therapy is estimated around 0.5-1% and clinical features include arthritis/arthralgia, rash, serositis, fever, myalgias, cytopenias, among others. According to the literature, DILE secondary to anti-TNF-α agents differs in several ways from the clinical and laboratory findings typically associated with classic DILE.Objectives:To estimate the incidence of induction of antinuclear antibodies (ANA) and DILE in a monocentric cohort of patients with spondyloarthritis and psoriatic arthritis treated with anti-TNF-α agents. To describe the clinical and laboratorial features and outcomes of patients with DILE.Methods:We performed a retrospective analysis of patients with spondyloarthritis and psoriatic arthritis treated with anti-TNF-α agents, from our University Hospital, who have been registered on the Portuguese Rheumatic Diseases Register (Reuma.pt) between July 2001 and December 2020. Patients with positive ANA (titer > 1/100) before the anti-TNF-α therapy were excluded. Because specific criteria for the diagnosis of DILE have not been established, we considered the diagnosis in case of a temporal relationship between clinical manifestations and anti-TNF-α treatment and fulfillment of ACR/EULAR 2019 classification criteria for SLE. In patients with DILE, clinical features, laboratory findings, systemic therapies and outcome after discontinuation of medication were collected from reuma.pt and medical records. For the clinical and demographic predictors, continuous variables were analyzed using a two-sided t-test and categorical variables using a Fisher’s exact test. P-value <0.05 was considered statistically significant.Results:In the spondyloarthritis group, 290 patients were included (44.8% females, mean age at diagnosis of 33.3 ± 11.5 years and mean disease duration of 15.1 ± 10.4 years) and in the psoriatic arthritis group, 116 patients were included (50.0% females, mean age at diagnosis of 40.1 ± 11.0 years and mean disease duration of 13.1 ± 6.8 years). In our study, we observed high serology conversion rates (positive ANA in 67.9% and 58.6% of patients with Spondyloarthritis and Psoriatic Arthritis, respectively), with similar conversion rates between different anti-TNF drugs. Three patients with spondyloarthritis (1.0%) and 1 patient with psoriatic arthritis (0.9%) developed DILE. Etanercept was the causative agent in 2 cases, infliximab and adalimumab in 1 case, each. Peripheral arthritis (new onset or abrupt worsening) occurred in 2 patients, serositis in 1 patient, constitutional symptoms in 2 patients, subnephrotic proteinuria in 1 patient, lymphopenia in 2 patients and hypocomplementemia in 1 patient. Specific treatment was prescribed to the 4 patients (oral corticosteroids) and they achieved complete recovery. After anti–TNF-α treatment interruption, no patient had recurrent disease. We observed that patients with DILE had a significantly longer disease duration (> 8.4 years; p=0.04) and a significantly longer duration of therapy with anti-TNF (> 4.0 years; p=0.04) when compared to patients without DILE.Conclusion:Despite the frequent induction of autoantibodies, the development of DILE secondary to anti–TNF-α agents is rare. Our study demonstrates an incidence rate similar to other studies reported before. The clinical and laboratorial characteristics of our patients with DILE attributable to anti–TNF-α agents differ significantly from DILE due to more traditional agents, as is described in literature. Overall, patients in this study had mild disease that improved after therapy discontinuation, without recurrence of the disease. It seems that a longer disease duration and a longer period under anti-TNF-α therapy may increase the risk of DILE development.Disclosure of Interests:None declared

scholarly journals Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 512
Author(s):  
Aleksandra Gilis-Januszewska ◽  
Anna Bogusławska ◽  
Kornelia Hasse-Lazar ◽  
Beata Jurecka-Lubieniecka ◽  
Barbara Jarząb ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Malignant Tumors ◽  
Genetic Disorder ◽  
Family Members ◽  
Pancreatic Neuroendocrine Tumor ◽  
Index Patient ◽  
Generation Family

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant c.781C>T (LRG_509t1), which was previously reported only once in a family with isolated hyperparathyroidism. A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene, i.e., c.781C>T, leading to the amino acid change p.Leu261Phe in a three-generation family. In the screened family, 5/6 affected members had already developed hyperparathyroidism. In the index patient and two other family members, an aggressive course of pancreatic neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) with dissemination was diagnosed. In the index patient, late diagnosis and slow progression of the disseminated neuroendocrine tumor have been observed (24 years of follow-up). The very rare variant of MEN1, LRG_509t1 c.781C>T /p.Leu261Phe (LRG_509p1), diagnosed within a three-generation family has a heterogenic clinical presentation. Further follow-up of the family members should be carried out to confirm the spectrum and exact time of clinical presentation.

scholarly journals AB0442 CLINICAL FEATURES OF POLYMYOSITIS AND DERMATOMYOSITIS PATIENTS WITH SEVERE DYSPHAGIA

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1249.1-1249
Author(s):  
Y. Hayashi ◽  
K. Izumi ◽  
S. Hama ◽  
M. Higashida-Konishi ◽  
M. Ushikubo ◽  
...  
Keyword(s):  
Interstitial Pneumonia ◽  
Clinical Features ◽  
Clinical Characteristics ◽  
Age Of Onset ◽  
Inflammatory Diseases ◽  
Medical Center ◽  
Hospital Organization ◽  
Initial Examination ◽  
Severe Dysphagia ◽  
Frequent Complication

Background:Polymyositis (PM) and dermatomyositis (DM) are autoimmune inflammatory diseases characterized by proximal myositis. Dysphagia has been reported to develop in 35 to 62% of PM/DM patients and known as poor prognosis factor.Objectives:The purpose of this study is to determine the clinical characteristics of PM/DM patients who present with deglutition disorder.Methods:Consecutive patients with PM/DM who visited National Hospital Organization Tokyo Medical Center between April 2010 and January 2021 are included in this study. We compared clinical features between the patients with and without dysphagia. The diagnosis of dysphagia was based on videofluorography swallow study, and dysphagia requiring gastrostomy was defined as severe dysphagia. The clinical characteristics compared in this study were following: age of onset, levels of serum creatine kinase (CK) and lactate dehydrogenase(LDH), sense of dysphagia, manual muscle test (MMT) score, and complication of malignancy or interstitial pneumonia.Results:A total of 73 patients with PM/DM were identified. Among them, 12 patients were diagnosed with dysphagia, and 5 patients developed severe dysphagia. Patients with dysphagia had the following characteristics compared to patients without dysphagia: higher levels of serum LDH (833.7 ± 500.1 U/L vs 471.9 ± 321.0 U/L, p = 0.0088), higher levels of serum CK at initial examination (6070.3 ± 7184.8 IU/L vs 1534.7 ± 2978.8 IU/L, p = 0.0086) and more frequent sense of dysphagia (90.9% vs 10.6%, p< 0.0001), lower MMT score(3.18 ± 1.07 vs 4.31 ± 0.75, p = 0.0017). In addition to those, patients with severe dysphagia presented older age of onset (mean age 69.4 ± 12.0 vs 51.7 ± 14.8, p = 0.014), more frequent complication of malignancy (80.0% vs 14.8%, p= 0.0048) and less frequent complication of interstitial pneumonia (0.0% vs 55.5%, p= 0.023).Conclusion:These results indicate that dysphagia develops frequently in PM/DM patients with higher levels of serum LDH or CK, sense of dysphagia and low MMT score. Among them, patients with elderly onset or malignancy are at risk for sever dysphagia, and should be treated carefully.Disclosure of Interests:None declared.

Clinical Features and Prognosis of Adult-onset Still’s Disease: 61 Cases from China

2009 ◽  
Vol 36 (5) ◽  
pp. 1026-1031 ◽  
Author(s):  
TING ZENG ◽  
YU-QIONG ZOU ◽  
MEI-FANG WU ◽  
CHENG-DE YANG
Keyword(s):  
Prognostic Factors ◽  
Clinical Features ◽  
Chinese Patients ◽  
Adult Onset Still’S Disease ◽  
Disease Course ◽  
Adult Onset ◽  
Still’S Disease ◽  
Laboratory Findings ◽  
Still's Disease ◽  
Adult Onset Still's Disease

Objective.To describe the onset, clinical features, prognostic factors, and treatment of adult-onset Still’s disease (AOSD) in cases from China.Methods.Sixty-one Chinese patients with AOSD were analyzed retrospectively.Results.Common clinical features were fever (100.0%), rash (88.5%), and arthritis (82.0%). The laboratory findings were as follows: leukocytosis (83.6%), increased erythrocyte sedimentation rate (100.0%), elevated transaminase concentrations (23.0%), elevated ferritin levels (79.6%), negative antinuclear antibody (88.5%), and negative rheumatoid factor (88.5%). Of the 61 patients, 44.3% exhibited a monocyclic disease pattern, 29.5% experienced disease relapse at least once, 16.4% exhibited chronic articular course, and 9.8% died; most deaths were due to pulmonary infection and respiratory failure. Based on the disease course, we divided the 61 patients into 2 groups: those with favorable outcome (cyclic disease course, n = 45) and unfavorable outcome (chronic disease course or death, n = 16). We analyzed the prognostic factors for the 2 groups, and found that pleuritis, interstitial pneumonia, elevated ferritin levels, and failure of fever to subside after 3 days of prednisolone at 1 mg/kg/day were unfavorable prognostic factors for patients with AOSD.Conclusion.Patients with AOSD had complex symptoms with no specific laboratory findings. Our results indicate that AOSD is not a relatively benign disease, especially in cases that are refractory to high doses of prednisone.

scholarly journals Siblings with Bardet Beidl Syndrome

2013 ◽  
Vol 33 (3) ◽  
pp. 236-238
Author(s):  
Ram Peter ◽  
Priya Jose ◽  
MNG Nair
Keyword(s):  
Clinical Features ◽  
Autosomal Recessive ◽  
Clinical Presentation ◽  
The Body ◽  
Bardet Biedl Syndrome ◽  
Recessive Condition ◽  
Autosomal Recessive Condition

Bardet Biedl syndrome is an autosomal recessive condition affecting many parts of the body. Incidence of BBS is 1 in 100000. Its clinical features varies in person to person though from same family too. We are reporting two siblings with Bardet Beidl syndrome with different clinical presentation. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8081   J. Nepal Paediatr. Soc. 2013;33(3):236-238

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