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Almeida posted an update 10 months, 3 weeks ago
The present phenotype-based disease classification causes ambiguity in diagnosing and determining timely, effective treatment options for primary immunodeficiency (PID). In this study, we aimed to examine the characteristics of early-onset PID and proposed a JAK-STATopathy subgroup based on their molecular defects.
We reviewed 72 patients (<100days) retrospectively. These patients exhibited various immune-related phenotypes and received a definitive molecular diagnosis by next-generation sequencing (NGS)-based tests. We evaluated the PID-causing genes and clinical parameters. We assessed the genes that shared the JAK-STAT signalling pathway. We also examined the potential high risks related to the 180-day death rate.
We identified PID disorders in 25 patients (34.72%, 25/72). The 180-day mortality was 26.39% (19/72). Early onset of disease (cut-off value of 3.5days of age) was associated with a high 180-day death rate (
=0.009). Combined immunodeficiency with associated or syndromic features comprisherapies.
We analysed clinical factors that are predictive of a diagnosis of parotid abscess among patients with bacterial parotitis.
This retrospective study included 64 hospitalised patients who were diagnosed with parotid abscess, or bacterial parotitis. Data on patient demographics, clinical characteristics, and clinical management were collected. Predictive factors for parotid abscess were evaluated using univariate and multivariate analysis.
There were 25 patients with parotid abscess and 39 with bacterial parotitis. All patients presented with moderate-to-severe disease, required parenteral antibiotics, or had indicators for surgical drainage. Patient profiles and immune status were not significantly associated with parotid abscess. However, parameters that were significantly related to parotid abscess were subacute presentation (approximate 10.4 days) (p value=0.016), fluctuation (p value<0.001), and normal (haemoglobin) Hb level >12-13g/dL (p value=0.035). Imaging indicated the abscess location, extension and evaluated the complications. Surgical drainage with small skin incision and antibiotic coverage for possible pathogens, in particular
spp. and
spp. produced favourable patient outcomes. Complication was identified in 3 cases with included septicaemia and cellulitis of the face and parapharyngeal space.
Among bacterial parotitis patients, parotid abscess should be considered in whom presented with subacute duration of symptoms, enlarged glands with fluctuation, and non-anaemic problem. Instead of standard skin incision of parotidectomy, small vertical skin incision over a well localised abscess pocket or fluctuated area achieved the good results.
Among bacterial parotitis patients, parotid abscess should be considered in whom presented with subacute duration of symptoms, enlarged glands with fluctuation, and non-anaemic problem. Instead of standard skin incision of parotidectomy, small vertical skin incision over a well localised abscess pocket or fluctuated area achieved the good results.
This present study aimed to assess if clinical, laboratory and MRI were an accurate benchmark in assessing the effectiveness of neoadjuvant chemotherapy in osteosarcoma patients.
This was an observational analytic study with a cross-sectional design. We correlated among clinical, laboratory and magnetic resonance imaging (MRI) data before and after neoadjuvant chemotherapy; and percentage of tumor necroses from osteosarcoma patients during the period between January 2017-July 2019.
Of the 58 patients included in this study, 38 were male and 20 were female aged 5 – 67 years (mean 16-year-old. 37(63.8%) patients underwent neoadjuvant chemotherapy with CAI regimens and 13 (36.2%) with CA regiments. The tumors were classified as stage
in 43 (74.1%) patients and stage III in 15 (25.9%) patients. Wilcoxon test showed significant differences between alkaline phosphatase (ALP), erythrocyte sedimentation rate (ESR), and neutrophil to lymphocyte ratio(NLR) before and after neoadjuvant chemotherapy in the poor-s.[This corrects the article DOI 10.1093/ckj/sfz164.][This corrects the article DOI 10.1093/ckj/sfz164.].[This corrects the article DOI 10.1093/ckj/sfaa084.][This corrects the article DOI 10.1093/ckj/sfaa084.].[This corrects the article DOI 10.1093/ckj/sfz038.].[This corrects the article DOI 10.1093/ckj/sfz121.][This corrects the article DOI 10.1093/ckj/sfz121.].Biopsy-proven acute interstitial nephritis (AIN) secondary to sodium-glucose co-transporter 2 (SGLT2) inhibitors has not been described previously. Here, we report on the management of a patient with severe acute kidney injury that developed 6 weeks after starting empagliflozin. The cause was confirmed as AIN on renal biopsy. Our patient recovered, without the need for dialysis, with discontinuation of empagliflozin and corticosteroid treatment. This novel clinical observation is likely to occur more frequently as these drugs are increasingly being prescribed, given that recent randomized controlled trials including EMPA-REG (Empagliflozin, Cardiovascular Outcomes, and Mortality in Type 2 Diabetes) showed SGLT2 inhibitors can decrease cardiovascular mortality, among other benefits, in high-risk diabetic populations.Joubert syndrome is a genetically heterogeneous multisystem disorder typically diagnosed in childhood. Nephronophthisis is the most common renal pathology in Joubert syndrome, and renal failure usually occurs in childhood or in young adults. Selleckchem AZD3229 We report a 61-year-old female diagnosed with AHI1-related oculorenal Joubert syndrome, who presented initially with decline in renal function in her 50s. Our report describes exceptionally late presentation of renal disease in Joubert syndrome and highlights the importance of continued renal function monitoring in older adults with Joubert syndrome.Acute kidney injury (AKI) caused by hantavirus infections is rare but should be suspected in any patient presenting with flu-like symptoms, signs of haemolytic-uraemic syndrome or presence of anti-glomerular basement membrane (anti-GBM) antibodies. We report the first case of Dobrava-Belgrade virus in France imported from southeastern Europe. The characteristic macroscopic appearance of the fresh renal biopsy specimen, displaying a haemorrhagic appearance of the medulla, suggested hantavirus infection. AKI caused by hantavirus infections remains a diagnostic challenge, especially outside endemic areas.