scholarly journals Clinical Presentation, Outcomes, and Treatment of Membranous Nephropathy after Transplantation

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Artur Q. B. da Silva ◽  
Taina V. de Sandes-Freitas ◽  
Juliana B. Mansur ◽  
Jose Osmar Medicina-Pestana ◽  
Gianna Mastroianni-Kirsztajn
Keyword(s):  
Membranous Nephropathy ◽  
Clinical Presentation ◽  
Patient Survival ◽  
De Novo ◽  
Immunosuppressive Regimen ◽  
Graft Dysfunction ◽  
Class V ◽  
Clinical Presentations ◽  
Number Of Patients ◽  
Standard Strategy

There are scarce data about clinical presentation and outcomes of posttransplant membranous nephropathy (MN), and few reports include a large number of patients. This was a retrospective cohort including adult patients with posttransplant MN transplanted between 1983 and 2015 in a single center (n=41). Only patients with histological diagnosis of MN in kidney grafts were included. Clinical and laboratory presentation, histological findings, treatment, and outcomes were detailed. Patients were predominantly male (58.5%), with a mean age of 49.4 ± 13.2 years; 15 were considered as recurrent primary MN; 3 were class V lupus nephritis; 14 were considered as de novo cases, 7 secondary and 7 primary MN; and 9 cases were considered primary but it was not possible to distinguish between de novo MN and recurrence. Main clinical presentations were proteinuria (75.6%) and graft dysfunction (34.1%). Most patients with primary recurrent and de novo primary MN were submitted to changes in maintenance immunosuppressive regimen, but no standard strategy was identified; 31 patients presented partial or complete remission, and glomerulopathy appeared not to impact graft and patient survival.

Opportunistic Fungal Infections in Small Animals

2018 ◽  
Vol 54 (6) ◽  
pp. 327-337 ◽  
Author(s):  
Andrea Dedeaux ◽  
Amy Grooters ◽  
Nobuko Wakamatsu-Utsuki ◽  
Joseph Taboada
Keyword(s):  
Clinical Presentation ◽  
Fungal Infections ◽  
Small Animal ◽  
Small Animals ◽  
Clinical Presentations ◽  
Number Of Patients ◽  
Causes Of Disease ◽  
Immunosuppressed Patients ◽  
Opportunistic Mycoses ◽  
Hyphal Diameter

ABSTRACT Opportunistic fungal infections have long been recognized as rare causes of disease in immunocompetent dogs and cats. Recently, the escalating use of multiagent immunosuppression protocols (especially those that include cyclosporine) has resulted in an increased number of patients with opportunistic fungal infection encountered by small animal practitioners and has altered the typical case phenotype. Based on histologic and cytologic features such as pigmentation, hyphal diameter, and distribution in tissue, these opportunistic mycoses can be placed into categories such as phaeohyphomycosis, hyalohyphomycosis, and eumycotic mycetoma. This review aims to summarize the clinical presentations, methods for diagnosis, treatment recommendations, and prognosis for both immunocompetent and immunosuppressed patients with opportunistic fungal infections. An example case description is included to illustrate the most common current clinical presentation.

scholarly journals Variation in the clinical presentation of takotsubo cardiomyopathy in a non-referral hospital

2016 ◽  
Vol 5 ◽  
Author(s):  
Stefan Peters
Keyword(s):  
Takotsubo Cardiomyopathy ◽  
Clinical Presentation ◽  
Neurological Diseases ◽  
Case Reports ◽  
Referral Hospital ◽  
Cardiac Diseases ◽  
Clinical Presentations ◽  
Number Of Patients ◽  
The World ◽  
Varied Distribution

The spectrum of clinical presentations of takotsubo cardiomyopathy is larger than once suspected. There are several pulmonary and neurological diseases that can aggravate leading to atypical takotsubo cardiomyopathy documented in a large collective of case reports from all all over the world. This varied distribution of patients’ presentations is illustrated by several cases.  The spectrum of takotsubo cardiomyopathy can be enlarged in non-acute and non-cardiac diseases leading to an increase of this diagnosis in a large number of patients.

Computer-Aided Diagnosis in Jaundice: Comparison of Knowledge-based and Probabilistic Approaches

1996 ◽  
Vol 35 (01) ◽  
pp. 41-51 ◽  
Author(s):  
F. Molino ◽  
D. Furia ◽  
F. Bar ◽  
S. Battista ◽  
N. Cappello ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Clinical Information ◽  
Diagnostic Value ◽  
Clinical Findings ◽  
Clinical Documentation ◽  
Data Set ◽  
Knowledge Based ◽  
Number Of Patients ◽  
Support Tools ◽  
Aided Diagnosis

AbstractThe study reported in this paper is aimed at evaluating the effectiveness of a knowledge-based expert system (ICTERUS) in diagnosing jaundiced patients, compared with a statistical system based on probabilistic concepts (TRIAL). The performances of both systems have been evaluated using the same set of data in the same number of patients. Both systems are spin-off products of the European project Euricterus, an EC-COMACBME Project designed to document the occurrence and diagnostic value of clinical findings in the clinical presentation of jaundice in Europe, and have been developed as decision-making tools for the identification of the cause of jaundice based only on clinical information and routine investigations. Two groups of jaundiced patients were studied, including 500 (retrospective sample) and 100 (prospective sample) subjects, respectively. All patients were independently submitted to both decision-support tools. The input of both systems was the data set agreed within the Euricterus Project. The performances of both systems were evaluated with respect to the reference diagnoses provided by experts on the basis of the full clinical documentation. Results indicate that both systems are clinically reliable, although the diagnostic prediction provided by the knowledge-based approach is slightly better.

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

2018 ◽  
Vol 16 (05) ◽  
pp. 362-368 ◽  
Author(s):  
Federica Sullo ◽  
Agata Polizzi ◽  
Stefano Catanzaro ◽  
Selene Mantegna ◽  
Francesco Lacarrubba ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosomal Rearrangements ◽  
Number Of Patients ◽  
Wide Range ◽  
Visual Problems ◽  
Neurodevelopmental Abnormalities ◽  
Clinical Triad ◽  
High Degree ◽  
Motor Handicap

Cerebellotrigeminal dermal (CTD) dysplasia is a rare neurocutaneous disorder characterized by a triad of symptoms: bilateral parieto-occipital alopecia, facial anesthesia in the trigeminal area, and rhombencephalosynapsis (RES), confirmed by cranial magnetic resonance imaging. CTD dysplasia is also known as Gómez-López-Hernández syndrome. So far, only 35 cases have been described with varying symptomatology. The etiology remains unknown. Either spontaneous dominant mutations or de novo chromosomal rearrangements have been proposed as possible explanations. In addition to its clinical triad of RES, parietal alopecia, and trigeminal anesthesia, CTD dysplasia is associated with a wide range of phenotypic and neurodevelopmental abnormalities.Treatment is symptomatic and includes physical rehabilitation, special education, dental care, and ocular protection against self-induced corneal trauma that causes ulcers and, later, corneal opacification. The prognosis is correlated to the mental development, motor handicap, corneal–facial anesthesia, and visual problems. Follow-up on a large number of patients with CTD dysplasia has never been reported and experience is limited to few cases to date. High degree of suspicion in a child presenting with characteristic alopecia and RES has a great importance in diagnosis of this syndrome.

1001 Intra-Articular Distal Radius Fracture Surgical Intervention Threshold Origins and Development

2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
G Esworthy ◽  
N Johnson ◽  
J Dias ◽  
P Divall
Keyword(s):  
Distal Radius ◽  
Clinical Presentation ◽  
Surgical Intervention ◽  
Threshold Value ◽  
British Society ◽  
Relevant Today ◽  
Clinical Presentations ◽  
Post Traumatic ◽  
Current Guidance ◽  
Traumatic Arthritis

Abstract Background Treatment of intra-articular distal radius fractures is guided by the displacement of the articular fragments. Symptomatic post-traumatic arthritis is expected to occur if step displacement is > 2mm; this value is often used as an indication for surgery if closed reduction is not possible. Method A systematic review was performed to establish the origin and adaptations of the threshold, with papers screened and relevant citations reviewed. Orthopaedic textbooks were reviewed to ensure no earlier mention of the threshold was present. Results Knirk and Jupiter, 1986, are the first to quantify a threshold, with all their patients developing arthritis with >2mm displacement. Some papers have discussed using 1mm, although 2mm is most widely reported. Current guidance from the British Society for Surgery of the Hand supports 2mm. Although this paper is still widely cited, the authors published a re-examination of the data showing methodological flaws which is not as widely reported. They claim their conclusions are still relevant today; however, the radiological arthritis does not correlate with the clinical presentation. Conclusions Knirk and Jupiter originated the threshold value of 2mm. The lack of correlation between the radiological and clinical presentations warrants further investigation. The principle of treatment remains restoration of normal anatomical position.

scholarly journals A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Giada Moresco ◽  
Jole Costanza ◽  
Carlo Santaniello ◽  
Ornella Rondinone ◽  
Federico Grilli ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Clinical Presentation ◽  
De Novo ◽  
Clinical Signs ◽  
Missense Variant ◽  
Psychomotor Development ◽  
Helicase Domain ◽  
Protein Activity ◽  
Mrna Metabolism ◽  
Pathogenic Variants

Abstract Background De novo pathogenic variants in the DDX3X gene are reported to account for 1–3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and behavioral defects, and abnormal brain MRIs. Case presentation We report a 10-year-old girl affected by delayed psychomotor development, delayed myelination, and polymicrogyria (PMG). We identified a novel de novo missense mutation in the DDX3X gene (c.625C > G) by whole exome sequencing (WES). The DDX3X gene encodes a DEAD-box ATP-dependent RNA-helicase broadly implicated in gene expression through regulation of mRNA metabolism. The identified mutation is located just upstream the helicase domain and is suggested to impair the protein activity, thus resulting in the altered translation of DDX3X-dependent mRNAs. The proband, presenting with the typical PMG phenotype related to the syndrome, does not show other clinical signs frequently reported in presence of missense DDX3X mutations that are associated with a most severe clinical presentation. In addition, she has brachycephaly, never described in female DDX3X patients, and macroglossia, that has never been associated with the syndrome. Conclusions This case expands the knowledge of DDX3X pathogenic variants and the associated DDX3X syndrome phenotypic spectrum.

scholarly journals Disease course of Neurofibromatosis Type 2; a 30-year follow-up study of 353 patients seen at a single institution

2020 ◽  
Author(s):  
Claire Forde ◽  
Andrew T King ◽  
Scott A Rutherford ◽  
Charlotte Hammerbeck-Ward ◽  
Simon K Lloyd ◽  
...  
Keyword(s):  
De Novo ◽  
Radiation Treatment ◽  
Univariate Analysis ◽  
Age At Onset ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Disease Course ◽  
Number Of Patients

Abstract Background Limited data exists on the disease course of Neurofibromatosis Type 2 (NF2) to guide clinical trial design. Methods A prospective database of patients meeting NF2 diagnostic criteria, reviewed between 1990–2020, was evaluated. Follow-up to first vestibular schwannoma (VS) intervention and death was assessed by univariate analysis and stratified by age at onset, era referred and inheritance type. Interventions for NF2-related tumours were assessed. Cox regression was performed to determine the relationship between individual factors from time of diagnosis to NF2-related death. Results Three-hundred-and-fifty-three patients were evaluated. During 4643.1 follow-up years from diagnosis to censoring 60 patients (17.0%) died. The annual mean number of patients undergoing VS surgery or radiotherapy declined, from 4.66 and 1.65 respectively per 100 NF2 patients in 1990-1999 to 2.11 and 1.01 in 2010-2020, as the number receiving bevacizumab increased (2.51 per 100 NF2 patients in 2010-2020). Five patients stopped bevacizumab to remove growing meningioma or spinal schwannoma. 153/353 (43.3%) had at least one neurosurgical intervention/radiation treatment within 5 years of diagnosis. Patients asymptomatic at diagnosis had longer time to intervention and better survival compared to those presenting with symptoms. Those symptomatically presenting <16 and >40 years had poorer overall survival than those presenting at 26-39 years (P=0.03 and P=0.02 respectively) but those presenting between 16-39 had shorter time to VS intervention. Individuals with de novo constitutional variants had worse survival than those with de novo mosaic or inherited disease (P=0.004). Conclusion Understanding disease course improves prognostication, allowing for better informed decisions about care.

Association of coexisting anti-ribosomal P and anti-dsDNA antibodies with histology and renal prognosis in lupus nephritis patients

Lupus ◽  
2021 ◽  
pp. 096120332098390
Author(s):  
Ayako Wakamatsu ◽  
Hiroe Sato ◽  
Yoshikatsu Kaneko ◽  
Takamasa Cho ◽  
Yumi Ito ◽  
...  
Keyword(s):  
Lupus Nephritis ◽  
Lupus Erythematosus ◽  
Renal Outcome ◽  
Class V ◽  
Double Stranded Dna ◽  
Number Of Patients ◽  
Renal Histology ◽  
Renal Prognosis ◽  
Incidence Of Ckd ◽  
Ribosomal P

Objectives Anti-ribosomal P protein autoantibodies (anti-P) specifically develop in patients with systemic lupus erythematosus. Associations of anti-P with lupus nephritis (LN) histological subclass and renal outcome remain inconclusive. We sought to determine the association of anti-P and anti-double-stranded DNA antibody (anti-dsDNA) with renal histology and prognosis in LN patients. Methods Thirty-four patients with LN, having undergone kidney biopsy, were included. The 2018 revised ISN/RPS classification system was used for pathophysiological evaluation. Chronic kidney disease (CKD) was defined as an estimated glomerular filtration rate < 60 mL/min/1.73 m2 for > 3 months. Results Six patients (17.6%) were positive for anti-P and 26 (76.5%) for anti-dsDNA. Among the six patients with anti-P, one did not have anti-dsDNA, but did have anti-Sm antibody, and showed a histological subtype of class V. This patient maintained good renal function for over 14 years. The remaining five patients, who had both anti-P and anti-dsDNA, exhibited proliferative nephritis and were associated with prolonged hypocomplementemia, and the incidence of CKD did not differ from patients without anti-P. Conclusion Although this study included a small number of patients, the results indicated that histology class and renal prognosis associated with anti-P depend on the coexistence of anti-dsDNA. Further studies with a large number of patients are required to confirm this conclusion.

scholarly journals Case series on variable presentations of tuberculosis of the breast

2020 ◽  
Vol 13 (12) ◽  
pp. e236019
Author(s):  
Tharun Ganapathy Chitrambalam ◽  
Jeyakumar Sundaraj ◽  
Pradeep Joshua Christopher ◽  
Ramyasree Paladugu
Keyword(s):  
Clinical Presentation ◽  
Case Series ◽  
Common Type ◽  
Breast Abscess ◽  
Breast Lump ◽  
Clinical Presentations ◽  
Malignant Lesions

Tuberculosis (TB) of the breast is extremely rare and is often mistaken for benign or malignant lesions of the breast. They are rare even in countries which are endemic for TB, like India. The most common type of clinical presentation is a vague lump in the breast, but there are even other types of presentations which are documented. In olden days, there was a lot of dilemma and challenge in diagnosing TB of the breast, but thanks to improved pathological knowledge and the advent of investigations such as QuantiFERON-TB gold and GeneXpert, TB can be diagnosed early nowadays and treated accordingly. In this study series, we report 10 cases of TB of the breast with variable clinical presentations as fibroadenosis, breast abscess, duct ectasia and breast lump on evaluation, and the challenges encountered in establishing the diagnosis.

The clinical and pathological features of intraplaque hemorrhage in coronary artery -insights from Japan DCA registry-

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
N Nakamura ◽  
S Torii ◽  
T Ijichi ◽  
K Jujo ◽  
M Hara ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Unstable Angina ◽  
De Novo ◽  
Coronary Intervention ◽  
Coronary Plaque ◽  
Active Cell ◽  
Intraplaque Hemorrhage ◽  
Histopathological Analysis ◽  
Coronary Syndrome ◽  
Clinical Presentations

Abstract Introduction Intraplaque hemorrhage (IPH) is known to play an important role in plaque vulnerability in coronary artery. However, the biological reaction in IPH and clinical features of patients with IPH remain unknown, since most histological studies of IPH in coronary artery were performed on autopsy cases. Directional coronary atherectomy (DCA) enables the direct pathological evaluation of collected tissue from “living” patients. Purpose We aimed to clarify the clinical presentations and histopathologic features of IPH using specimens obtained by DCA. Method This multicentral prospective observational study included consecutive patients who underwent percutaneous coronary intervention for de novo lesions using DCA from June 2015 to February 2018. Histopathological sections that were collected from coronary plaques by DCA were evaluated and classified by the presence of IPH. IPH in DCA specimens was defined as clusters of hemosiderin (Figure A, arrows), erythrocytes (Figure B, arrow heads) and fibrin (Figure C, arrows) within the coronary plaque. A total of 154 de novo lesions from 154 patients were ultimately analyzed, and were divided into IPH group (n=37) and non-IPH group (n=117). Result Clinical profiles of patients in the two groups were comparable, except that unstable angina rather than chronic coronary syndrome was significantly more prevalent in the IPH group (32.4% vs. 16.2%, P=0.04). Histopathological analysis showed a significantly higher incidence of cellular-rich plaque (46.0% vs. 25.6%, P=0.02) and spindle-shaped cells (18.9% vs. 6.0%, P=0.02), which indicate active cell proliferations, in the IPH group. The prevalence of necrotic core was also higher in IPH group compared to non-IPH group (48.7% vs. 13.7%, P&lt;0.01). Conclusion Pathohistological analysis revealed that coronary plaques with IPH had an active cell proliferation, and patients with IPH likely to had clinical presentations of unstable angina. Figure 1 Funding Acknowledgement Type of funding source: None

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