NON-HODGKINS LYMPHOMA PRESENTING WITH EVIDENCE OF RIGHT VENTRICULAR OUTFLOW TRACT OBSTRUCTION

SUMMARY Anterior mediastinal tumours have been reported that initially presented with signs suggestive of cardiac disease. The widespread availability of two-dimensional echocardiography has demonstrated that, in the majority of cases, right ventricular compression is the major cardiac complication of such masses. We report two cases of mediastinal lymphoma that presented with chest pain and signs of right ventricular outflow obstruction.     

Do centimetres matter? Self‐reported versus estimated height measurements in parents

Aim: An impressive discrepancy between reported and measured parental height is often observed. The aims of this study were: (a) to assess whether there is a significant difference between the reported and measured parental height; (b) to focus on the reported and, thereafter, measured height of the partner; (c) to analyse its impact on the calculated target height range. Methods/Results: A total of 1542 individual parents were enrolled. The parents were subdivided into three groups: normal height (3–97th Centile), short (<3%) and tall (>97%) stature. Overall, compared with men, women were far better in estimating their own height (p < 0.001). Where both partners were of normal, short or tall stature, the estimated heights of their partner were quite accurate. Women of normal stature underestimated the short partner and overestimated the tall partner, whereas male partners of normal stature overestimated both their short as well as tall partners. Women of tall stature estimated the heights of their short partners correctly, whereas heights of normal statured men were underestimated. On the other hand, tall men overestimated the heights of their female partners who are of normal and short stature. Furthermore, women of short stature estimated the partners of normal stature adequately, and the heights of their tall partners were overestimated. Interestingly, the short men significantly underestimated the normal, but overestimated tall female partners. Conclusion: Only measured heights should be used to perform accurate evaluations of height, particularly when diagnostic tests or treatment interventions are contemplated. For clinical trails, we suggest that only quality measured parental heights are acceptable, as the errors incurred in estimates may enhance/conceal true treatment effects.     

A study of idiopathic generalised epilepsy in an Irish population.

Idiopathic generalised epilepsy (IGE) is subdivided into syndromes based on clinical and EEG features. PURPOSE: The aim of this study was to characterise all cases of IGE with supportive EEG abnormalities in terms of gender differences, seizure types reported, IGE syndromes, family history of epilepsy and EEG findings. We also calculated the limited duration prevalence of IGE in our cohort. METHODS: Data on abnormal EEGs were collected retrospectively from two EEG databases at two tertiary referral centres for neurology. Clinical information was obtained from EEG request forms, standardised EEG questionnaires and medical notes of patients. RESULTS: two hundred twenty-three patients met our inclusion criteria, 89 (39.9%) male and 134 (60.1%) females. Tonic clonic seizures were the most common seizure type reported, 162 (72.65%) having a generalised tonic clonic seizure (GTCS) at some time. IGE with GTCS only (EGTCSA) was the most common syndrome in our cohort being present in 94 patients (34 male, 60 female), with 42 (15 male, 27 female) patients diagnosed with Juvenile myoclonic epilepsy (JME), 23 (9 male, 14 female) with Juvenile absence epilepsy (JAE) and 20 (9 male, 11 female) with childhood absence epilepsy (CAE). EEG studies in all patients showed generalised epileptiform activity. CONCLUSIONS: More women than men were diagnosed with generalised epilepsy. Tonic clonic seizures were the most common seizure type reported. EGTCSA was the most frequent syndrome seen. Gender differences were evident for JAE and JME as previously reported and for EGTCSA, which was not reported to date, and reached statistical significance for EGTCA and JME.     

基于PC Matlab平台的扩散张量参数的计算

本文介绍了在普通计算机上根据磁共振成像系统测量所得到的扩散张量数据计算扩散张量参数的方法,并且基于Matlab编程语言实现了目前应用较广的临床参数,如表观扩散系数、扩散张量的最大特征值、特征向量以及各向异型扩散系数FA等的计算.     

The role of integrins in IgA nephropathy

Summary: The complicated network of immune reactions leading to mesangial cell activation and glomerular sclerosis in IgA nephropathy (IgAN) involves interactions between infiltrating cells, mesangial cells and mesangial matrix which are mediated by adhesion molecules. Integrin expression on mesangial cells in culture has recently been described. In the present work we investigated whether integrin expression on cultured human mesangial cells (MC) and mesangial matrix production could be modulated by mesangial matrix components, or by other proteins which may come into contact with MC during pathologic conditions, such as fibrinogen and von Willebrand factor. Moreover, we evaluated the effects induced by polymeric IgA or aggregated IgA or mixed IgA/IgG aggregates on integrin expression. To elucidate a possible role for abnormally glycosylated IgA, we tested IgA pretreated with various enzymes specific for carbohydrate residue components of the side carbohydrate chains of IgA molecules. We found that cultured mesangial cells, highly express the αv β3 integrin receptor for vitronectin and to a lesser extent the α3 β1 receptor for fibronectin and collagens. Among these integrins, αv β3 is modulated by matrix components and particularly enhanced when cells are incubated with proteins which can be abnormally present in the mesangial area, such as fibrinogen, collagen I and von Willebrand factor. IgA and aggregated IgA can modify integrin expression, inducing a decrease in α3 β1 and an increase in αv expression. Moreover, sugars can affect these interactions, since desialylated IgA enhance the expression of integrin β3 chain on cultured mesangial cells and sialic acid per se strongly inhibits it. Conversely, other sugars, represented in the carbohydrate chains of IgA₁ including mannose and N-acetylgalactosamine, were found to enhance αv expression. Our data suggest that the interactions of native polymeric IgA, IgA or IgA/IgG aggregates, as well as IgA with altered glycosylation may result in structural rearrangement of mesangial integrins, possibly reflecting on mesangial matrix composition.     

Spinal abnormalities in pediatric patients: MR imaging findings compared with clinical, myelographic, and surgical findings

Eighty-one pediatric patients with a variety of spinal disorders, including suspected dysrhaphism, scoliosis, neoplasia, and neurofibromatosis, underwent magnetic resonance (MR) imaging. The results were retrospectively compared with those of myelography followed by computed tomography (CT) and surgery. In patients with dysrhaphism, most abnormalities, including hydromyelia, inclusion tumors, and sites of cord tether, were demonstrated with MR imaging. Diastematomyelia and small hydromyelic cavities were indistinguishable on routine coronal and sagittal T1-weighted images; axial images with T2 weighting were optimal for this differentiation. MR imaging did not enable direct visualization of a thickened filum or evaluation of tethering with a thin, dorsally positioned neural placode. Congenital or severe scoliosis required lengthy studies with multiple planes of imaging or myelography and CT. Milder curvatures were readily evaluated with MR imaging, and neoplastic lesions, with the exception of intrathecal tumor seeding, were adequately defined.     

Serum erythropoietin (ESF) titers in polycythemia

Serum ESF titers were measured in 42 polycythemic patients using the fetal mouse liver cell bioassay. ESF titers in patients with secondary polycythemia differed significantly from those in patients with polycythemia vera (p less than 0.0001). Among the 21 patients with secondary polycythemia, 1 patient had an ESF titer less than 10 mU/ml (the lower limit of sensitivity) and 20 had ESF titers that ranged between 11 and 112 mU/ml, with a mean titer of 56 mU/ml. Among the 21 patients with polycythemia vera, 13 patients had ESF titers less than 10 mU/ml and 8 had ESF titers ranging between 12 and 55 mU/ml, with a mean titer of 26 mU/ml. The mean hemoglobin concentration in the 8 patients with ESF titers greater than 10 mU/ml was significantly below that in the 13 polycythemia vera patients with ESF titers less than 10 mU/ml (p less than 0.03). If ESF titers less than 10 mU/ml had been indicative of polycythemia vera and ESF titers greater than 10 mU/ml had been indicative of secondary polycythemia in patients with hemoglobin concentrations greater than 17.7 g/dl, but not indicative of either condition in patients with hemoglobin concentrations less than 17.7 g/dl, 71.5% of the polycythemic patients in this study would have been diagnosed correctly, 9.5% incorrectly, and in the 19% the diagnosis would have remained uncertain. It was concluded that measurement of serum ESF titers using this in vitro bioassay can be of clinical importance in differentiating between polycythemia vera and secondary polycythemia.     

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1)

Autosomal dominant polycystic kidney disease (ADPKD) is the most common single gene disorder resulting in renal failure. It is generally an adult onset disease, but rarely, cases of severe childhood polycystic disease arise in ADPKD families. The clear clinical anticipation in these pedigrees has led to the suggestion that the mutation may be an unstable trinucleotide repeat. We have now identified a nonsense mutation, Tyr3818Stop, in one such family (P117) within the major ADPKD gene, polycystic kidney disease 1 (PKD1). The mutation is shown to be a de novo change in the father, and of grandpaternal origin. PKD1 manifests as typical adult onset disease in the father, but is seen as severe disease, detected as enlarged polycystic kidneys in utero, in one of a pair of dizygotic twins; the other twin has the mutation but no evidence of cysts, consistent with an adult onset disease course. The finding of the same stable mutation associated with very different disease severity in this family indicates that phenotypic variation in PKD1 is not due to a dynamic mutation. It seems most likely that a small number of modifying factors may radically affect the course of disease in PKD1; identification of such factors will have important prognostic implications in this disorder.      

The etiology and mortality of new-onset refractory status epilepticus (NORSE) in adults: A systematic review and meta-analysis

New-onset refractory status epilepticus (NORSE) is a devastating neurological presentation. There is a paucity of large studies on NORSE as it is a relatively new clinical syndrome. The aim of this review was to summarize the etiologies and establish a mortality rate for NORSE. Two independent authors systematically searched the following electronic databases from January 1, 2005 April 20, 2021: PubMed, Embase, OVID, Scopus, Web of Science, “ Clinicaltrials.gov ,” and the International Standard Randomised Controlled Trial Number (ISRCTN) registry. We included all primary research studies of NORSE in adults and excluded commentaries, reviews, pre-clinical studies, and pediatric populations. Etiology was extracted from all studies meeting eligibility criteria, whereas data relating to treatments, hospital stay, functional outcomes, and mortality were extracted from studies with sample size ≥5. We conducted a random-effects meta-analysis of mortality rate with meta-regression testing for significant covariates. Of 1482 studies, 109 case reports and case series met our criteria, comprising 395 cases of NORSE. The most common etiology was cryptogenic in 197 cases (49.9%), followed by autoimmune in 143 cases (36.2%). The pooled mortality rate was 22% (95% confidence interval 17%–27%; $N_{\text{studies}}$ = 15), with low heterogeneity ($I^2$ = 0%). Meta-regression revealed that year of study, treatment with ketogenic diet or immunotherapy, percentage of cryptogenic cases, and length of intensive care unit stay were not significant covariates for mortality. Common treatments included antiseizure medications (median 5), general anesthesia, and immunotherapy such as corticosteroids, intravenous immunoglobulin, and plasma exchange. Mean length of intensive care admission was 33.4 days, with 52% of cases diagnosed with epilepsy on discharge. Neurocognitive impairment was a common sequela of NORSE. NORSE is associated with a high mortality. Half of cases remain cryptogenic, which presents a diagnostic challenge. Future focus should be on elucidating the underlying neurobiology and determining the most effective therapeutic interventions.