Lymphocytic colitis: clinical presentation and long term course.
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ABSTRACT:
SUBMITTER: Mullhaupt B
PROVIDER: S-EPMC1727313 | biostudies-other | 1998 Nov
REPOSITORIES: biostudies-other
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Project description:Background Lymphangioleiomyomatosis (LAM) is a rare multisystemic disorder with various clinical manifestations. Despite the recognition of several prognostic factors, the long-term clinical course and prognosis of patients with LAM in the era of sirolimus therapy are not established. Methods The clinical data of 104 patients with LAM were retrospectively analyzed. Death or lung transplantation was defined as the primary outcome. Disease progression (DP) was defined as a 10% absolute decline in forced expiratory volume in one second (FEV1). Results The mean age of all patients was 40.3 years. Over a median follow-up period of 7.1 years, of all patients, 6.7% died and 1.9% underwent lung transplantation, while of 92 patients with serial lung function data, 35.9% experienced DP. The 5-year and 10-year overall survival rates were 93.0% and 90.9%, respectively. The multivariable Cox analysis revealed that older age (hazard ratio [HR]: 1.136, P = 0.025), lower FEV1 (HR: 0.956, P = 0.026) or diffusing capacity for carbon monoxide (HR: 0.914, P = 0.003), and shorter distance during the 6-min walk test (HR: 0.993, P = 0.020) were independent prognostic factors for mortality. A propensity score-matched comparative analysis performed between patients who received sirolimus therapy and those who did not, found no differences in survival, DP, complications, and lung function decline rate. Conclusions Over a follow-up period of approximately 7 years, one-tenth of all patients experienced death, while one-third experienced DP. Older age, lower lung function, and reduced exercise capacity were associated with a poor prognosis in patients with LAM. Supplementary Information The online version contains supplementary material available at 10.1186/s12931-022-02079-6.
| S-EPMC9206248 | biostudies-literature
Project description:Long-term epilepsy-associated tumors (LEATs) represent mostly benign brain tumors associated with drug-resistant epilepsy. The aim of the study was to investigate the specific transcriptional signatures of those tumors and characterize their underlying oncogenic drivers. A cluster analysis of 65 transcriptome profiles from three independent datasets resulted in four distinct transcriptional subgroups. The first subgroup revealed transcriptional activation of STAT3 and TGF-signaling pathways and contained predominantly dysembryoplastic neuroepithelial tumors (DNTs). The second subgroup was characterized by alterations in the MAPK-pathway and up-stream cascades including FGFR and EGFR-mediated signaling. This tumor cluster exclusively contained neoplasms with somatic BRAFV600E mutations and abundance of gangliogliomas (GGs) with a significantly higher recurrence rate (42%). This finding was validated by examining recurrent tumors from the local database exhibiting BRAFV600E in 90% of the cases. The third cluster included younger patients with neuropathologically diagnosed GGs and abundance of the NOTCH- and mTOR-signaling pathways. The transcript signature of the fourth cluster (including both DNTs and GGs) was related to impaired neural function. Our analysis suggests distinct oncological pathomechanisms in long-term epilepsy-associated tumors. Transcriptional activation of MAPK-pathway and BRAFV600E mutation are associated with an increased risk for tumor recurrence and malignant progression, therefore the treatment of these tumors should integrate both epileptological and oncological aspects.
| S-EPMC6952384 | biostudies-literature
Project description:Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.
| S-EPMC5177708 | biostudies-literature
Project description:Dopamine beta hydroxylase (DBH) deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension, that can be treated with L-threo-3,4-dihydroxyphenylserine (L-DOPS). We aimed to summarize clinical, biochemical, and genetic data of all world-wide reported patients with DBH-deficiency, and to present detailed new data on long-term follow-up of a relatively large Dutch cohort. We retrospectively describe 10 patients from a Dutch cohort and 15 additional patients from the literature. We identified 25 patients (15 females) from 20 families. Ten patients were diagnosed in the Netherlands. Duration of follow-up of Dutch patients ranged from 1 to 21 years (median 13 years). All patients had severe orthostatic hypotension. Severely decreased or absent (nor)epinephrine, and increased dopamine plasma concentrations were found in 24/25 patients. Impaired kidney function and anemia were present in all Dutch patients, hypomagnesaemia in 5 out of 10. Clinically, all patients responded very well to L-DOPS, with marked reduction of orthostatic complaints. However, orthostatic hypotension remained present, and kidney function, anemia, and hypomagnesaemia only partially improved. Plasma norepinephrine increased and became detectable, while epinephrine remained undetectable in most patients. We confirm the core clinical characteristics of DBH-deficiency and the pathognomonic profile of catecholamines in body fluids. Impaired renal function, anemia, and hypomagnesaemia can be part of the clinical presentation. The subjective response to L-DOPS treatment is excellent and sustained, although the neurotransmitter profile in plasma does not normalize completely. Furthermore, orthostatic hypotension as well as renal function, anemia, and hypomagnesaemia improve only partially.
| S-EPMC8246878 | biostudies-literature
Project description:BACKGROUND:Immunoglobulin G4-related lung disease (IgG4-RLD) is the pulmonary manifestation of a systemic fibroinflammatory disease characterized by lymphoplasmacytic infiltration with an abundance of IgG4-positive plasma cells. Long-term clinical course and outcomes of IgG4-RLD remain unclear. We aimed to identify clinical characteristics, treatment outcomes, and longitudinal pulmonary function changes in patients with IgG4-RLD according to the radiologic classification. METHODS:Chest computed tomography findings of 37 subjects were classified into five subtypes: solid nodular, bronchovascular, alveolar interstitial, round ground glass opacity, and alveolar consolidative. Radiologic treatment outcomes and longitudinal pulmonary function changes were compared among the different radiologic subtypes. RESULTS:The mean age of the subjects was 55.6 years, and 78.4% were male. Among the five radiologic subtypes, alveolar consolidative and solid nodular type were most common, accounting for approximately 29.7% each of the total cases. Prednisone with or without azathioprine was administered to 31 patients (median treatment duration 14 months). In the treated patients, serial images showed complete response or partial response in 77.4%. However, relapse was documented in 25.0% of those who showed complete or partial response. In patients whose longitudinal lung function data were available (n?=?20), the lung function was found to be stable during follow-up. Alveolar consolidative type showed the highest complete response rate, whereas alveolar interstitial type showed the lowest response rate, either complete or partial. CONCLUSIONS:Most patients showed a favorable outcome with regards to radiologic improvement and maintenance of pulmonary function; however, the response differed according to the radiologic subtype.
| S-EPMC7574178 | biostudies-literature
Project description:Human infection with Puumala virus (PUUV), the most common hantavirus in Central Europe, causes nephropathia epidemica (NE), a disease characterized by acute kidney injury and thrombocytopenia. To determine the clinical phenotype of hantavirus-infected patients and their long-term outcome and humoral immunity to PUUV, we conducted a cross-sectional prospective survey of 456 patients in Germany with clinically and serologically confirmed hantavirus-associated NE during 2001-2012. Prominent clinical findings during acute NE were fever and back/limb pain, and 88% of the patients had acute kidney injury. At follow-up (7-35 mo), all patients had detectable hantavirus-specific IgG; 8.5% had persistent IgM; 25% had hematuria; 23% had hypertension (new diagnosis for 67%); and 7% had proteinuria. NE-associated hypertension and proteinuria do not appear to have long-term consequences, but NE-associated hematuria may. All patients in this study had hantavirus-specific IgG up to years after the infection.
| S-EPMC4285283 | biostudies-literature
Project description:BACKGROUND:This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1) who has been followed up for 38 years. CASE:The patient first visited our hospital as a 7-year-old boy with a complaint of low visual acuity. Best corrected visual acuity (BCVA) was 0.5 in the right eye and 0.6 in the left eye. The refractive error was approximately -5.0 D in both eyes. The fundus showed only myopic changes. A bright-flash electroretinogram (ERG) revealed a negative configuration. We diagnosed CSNB and corrected the refractive error with glasses. We continued to monitor the ERG and various waveform components as well as visual acuity and the appearance of the fundus. All NYX exons were screened for a causative mutation by polymerase chain reaction amplification, and direct sequencing was performed. RESULTS:By 10 years of age, BCVA had increased to 0.8 on the right and 0.9 on the left, with little change thereafter. The fundus continued to show only myopic changes. No changes were seen in the amplitude or implicit time of the a-wave or b-wave or in the b/a-wave ratio. A novel hemizygous insertion mutation, c.1205_1206insT, p.(Glu404Argfs*89), was detected in exon 2 of the NYX gene. CONCLUSION:To our knowledge, this is the longest follow-up of a patient with CSNB1. No changes in the clinical course have been seen during follow-up. We believe that it is important to continue observations and accumulate clinical data for prognostic purposes on patients with CSNB1.
| S-EPMC5422747 | biostudies-literature
Project description:AimsChildren presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype, and outcomes of infantile HCM in a well-characterized multicentre European cohort.Methods and resultsOf 301 children diagnosed with infantile HCM between 1987 and 2019 presenting to 17 European centres [male n = 187 (62.1%)], underlying aetiology was non-syndromic (n = 138, 45.6%), RASopathy (n = 101, 33.6%), or inborn error of metabolism (IEM) (n = 49, 16.3%). The most common reasons for presentation were symptoms (n = 77, 29.3%), which were more prevalent in those with syndromic disease (n = 62, 61.4%, P < 0.001), and an isolated murmur (n = 75, 28.5%). One hundred and sixty-one (53.5%) had one or more co-morbidities. Genetic testing was performed in 163 (54.2%) patients, with a disease-causing variant identified in 115 (70.6%). Over median follow-up of 4.1 years, 50 (16.6%) underwent one or more surgical interventions; 15 (5.0%) had an arrhythmic event (6 in the first year of life); and 48 (15.9%) died, with an overall 5 year survival of 85%. Predictors of all-cause mortality were an underlying diagnosis of IEM [hazard ratio (HR) 4.4, P = 0.070], cardiac symptoms (HR 3.2, P = 0.005), and impaired left ventricular systolic function (HR 3.0, P = 0.028).ConclusionsThis large, multicentre study of infantile HCM describes a complex cohort of patients with a diverse phenotypic spectrum and clinical course. Although overall outcomes were poor, this was largely related to underlying aetiology emphasizing the importance of comprehensive aetiological investigations, including genetic testing, in infantile HCM.
| S-EPMC8712843 | biostudies-literature
Project description:Key summary points Aim To assess the magnitude of the infection in residents from—and staff working in—a long-term-care facility (LTCF) 7 days after the identification of one resident with confirmed COVID-19 infection and the clinical presentation of the infected residents. Findings Two weeks after the first case, 50.9% of residents and 27.5% of the workers were tested positive for SARS-CoV-2. Diarrhea, fall, delirium, and hypothermia can be initial symptoms of COVID-19 in LTCF residents. Message The rapid dissemination of a COVID-19 infection in a LTCF may be due to a delay in the diagnosis of the first case, whose presentation could be atypical in residents. Purpose To assess the magnitude of the infection in residents from—and staff working in—a long-term-care facility (LTCF) 7 days after the identification of one resident with confirmed COVID-19 infection and to assess the clinical presentation of the infected residents. Methods All residents and staff members of a LTCF were tested for SARS-CoV-2 by real-time reverse-transcriptase polymerase chain reaction on nasopharyngeal swab. Residents were studied clinically 4 weeks after the first COVID diagnosis. Results Thirty-eight of the 79 residents (48.1%) tested positive for SARS-CoV-2. Respiratory symptoms were preceded by diarrhea (26.3%), a fall (18.4%), fluctuating temperature with hypothermia (34.2%) and delirium in one resident. Respiratory symptoms, including cough and oxygen desaturation, appeared after those initial symptoms or as the first sign in 36.8% and 52.2%, respectively. At any time of the disease, fever was observed in 65.8%. Twelve deaths occurred among the COVID-19 residents. Among the 41 residents negative for SARS-CoV-2, symptoms included cough (21.9%), diarrhea (7.3%), fever (21.9%), hypothermia (9.7%), and transient hypoxemia (9.8%). No deaths were observed in this group. 27.5% of the workers were also COVID-19 positive. Conclusion The rapid dissemination of the COVID-19 infection may be explained by the delay in the diagnosis of the first cases due to atypical presentation. Early recognition of symptoms compatible with COVID-19 may help to diagnose COVID-19 residents earlier and test for SARS-CoV-2 symptomatic and asymptomatic staff and residents earlier to implement appropriate infection control practices.
| S-EPMC7538265 | biostudies-literature
Project description:This longitudinal study was designed to elucidate whether gut microbiota is associated with relapse and treatment response in ulcerative colitis (UC) patients. Fifty-one patients with UC were enrolled between 2012 and 2017, and followed up through 2020. Colon mucosal biopsy were obtained at enrollment, and 16S ribosomal RNA sequencing was performed using extracted RNA. Of the 51 patients, 24 were in remission and 27 had active UC at enrollment. Of the 24 patients in remission, 17 maintained remission and 7 developed relapse during follow-up. The 7 patients with relapse showed lower diversity, with a lower proportion of Clostridiales (p = 0.0043), and a higher proportion of Bacteroides (p = 0.047) at enrollment than those without relapse. The 27 patients with active UC were classified into response (n = 6), refractory (n = 13), and non-response (n = 8) groups according to their treatment response in 6 months. The refractory and non-response groups showed lower diversity with a lower proportion of Prevotella (p = 0.048 and 0.043) at enrollment than the response group. This study is the first demonstration that reduced diversity and particular microbes are associated with the later clinical course of relapse events and treatment response in UC.
| S-EPMC8253849 | biostudies-literature