Small bowel into small bowel intussusception can present with symptoms similar to those observed in patients with more common small bowel into large bowel intussusception. In most cases, intussusceptions isolated to the small bowel are self-limited and less likely to result in bowel ischemia. Nonetheless, any patient with recurrent intussusception should be evaluated to assess location and for the presence of a pathologic lead point. We report a patient with recurrent small bowel into small bowel intussusception who underwent a comprehensive evaluation that revealed lymphoid hyperplasia in the absence of a pathologic lead point. His symptoms resolved after a dose of oral dexamethasone.

Mutations in the human PCDH19 gene lead to epileptic encephalopathy of early childhood. It is characterized by the early onset of serial seizures, cognitive impairment and behavioral disorders (including autistic personality traits). In most cases, difficulties arise in selecting therapy due to pharmacoresistance. The pathogenesis of the disease is complex. The data available to us at the moment from numerous studies present the pathogenesis of «PCDH19 syndrome» as multi-level, affecting both the epigenetic support of cell life, and development of stem cells and progenitor cells in the process of neuroontogenesis, and the influence on the neurotransmitter mechanisms of the brain, and disruption of the formation of neural networks with an inevitable increase in the excitability of the cerebral cortex as a whole, and local changes in the highly labile regulatory structures of the hippocampal region. And it is not surprising that all these changes entail not only (and perhaps not so much) epileptization, but a profound disruption of the regulation of brain activity, accompanied by autism spectrum disorders, more profound disorders in the form of schizophrenia or cyclothymia, and the formation of delayed psychomotor development. A «side branch» of these pathogenetic processes can also be considered the participation of PCDH19 dysfunctions in certain variants of oncogenesis. The need for polypharmacy (in most cases) confirms the diversity of mechanisms involved in the pathogenesis of the disease and makes the prospects for the development of effective and rational treatment regimens very vague. Cautious optimism is caused only by attempts at relatively specific treatment with ganaxolone.
Мутации в гене PCDH19 приводят к эпилептической энцефалопатии раннего детского возраста, характеризующейся ранним возникновением судорожных приступов, чаще серийных, сопутствующими когнитивными нарушениями, различным поведенческими проблемами (в том числе аутистическими особенностями личности). В большинстве случаев возникают трудности в подборе терапии в связи с медикаментозной устойчивостью ко многим препаратам. Патогенез заболевания сложен. Имеющиеся в нашем распоряжении на настоящий момент данные многочисленных исследований представляют патогенез «синдрома PCDH19» как многоуровневый, затрагивающий и эпигенетическое обеспечение жизнедеятельности клетки, и процессы развития стволовых клеток и клеток-предшественниц в процессе нейроонтогенеза, и влияние на медиаторные механизмы мозга, и нарушение формирования нейронных сетей с неизбежным повышением возбудимости коры головного мозга в целом, и локальные изменения в регуляторных высоколабильных структурах гиппокампальной области. И не удивительно, что все эти изменения влекут за собой не только (а может, и не столько) эпилептизацию, сколько глубокое нарушение регуляции мозговой деятельности, сопровождающееся расстройствами аутистического спектра, более глубокими нарушениями в виде шизофрении или циклотимии, формированием задержки психомоторного развития. «Боковой ветвью» этих патогенетических процессов можно считать и участие нарушений функции PCDH19 в отдельных вариантах онкогенеза. Потребность в полипрагмазии (в большинстве случаев) подтверждает многообразие механизмов, задействованных в патогенезе заболевания, и делает перспективы разработки эффективных и рациональных схем его лечения весьма туманными. Осторожный оптимизм вызывают лишь попытки относительно специфического лечения ганаксолоном.

Glyphosate is a widely used herbicide that is generally considered safe; however, acute kidney injury (AKI) caused by glyphosate ingestion can be severe and require hemodialysis. We present a unique case of a 68-year-old Japanese man who developed AKI after accidental ingestion of glyphosate and required hemodialysis. Based on the clinical presentation and findings, the patient was diagnosed with renal AKI with severe tubulointerstitial damage. However, the precise pathogenesis of the tubulointerstitial damage remained unclear. An elevated beta-2 microglobulin level discovered by the urinalysis during admission raised the suspicion of tubulointerstitial nephritis caused by glyphosate. Gallium scintigraphy revealed accumulation in both kidneys. A renal biopsy revealed acute tubulointerstitial nephritis rather than acute tubular necrosis, which is commonly observed with glyphosate-induced renal injury. After initiating steroid therapy, his kidney function gradually improved and he was weaned from hemodialysis. This report is the first to describe glyphosate-induced acute tubulointerstitial nephritis that was successfully treated with immunosuppressive therapy. Furthermore, this report highlights the importance of steroid therapy for cases of persistent kidney injury after the discontinuation of agents associated with acute tubulointerstitial nephritis.

Idiopathic granulomatous mastitis (IGM) is a benign, chronic inflammatory lesion of the breast. Immunoglobulin G4 (IgG4) associated disease is rare in the breast. In our study, we aimed to evaluate the efficacy of steroid treatment on IgG4 levels in tissue in patients diagnosed with IGM. Between 2008 and 2017, 55 patients diagnosed with IGM in our clinic were included in the study. Demographic, clinical, microbiologic and histopathologic characteristics, treatment modality and recovery time were evaluated retrospectively. Patients were divided into 3 groups according to tissue IgG4 levels: negative (Group I), infrequently and slightly positive (Group II), and highly positive (Group III). Group I patients had a complete response rate of 77.8%. In the rest of the patients (22.2%), insufficient response was detected from the beginning of the treatment. In Group II, the response rate was 91.3% and the permanent success rate after treatment was 87.0%. Although group III patients had a complete response at the beginning (95.65%), they relapsed in a short period of time (26.1%) after discontinuation of steroid treatment. At least one steroid-related side effect was observed in 47 (85.8%) patients in all groups. There is no consensus on the dose and duration of immunosuppressive treatment in IGM. In this study, responses to steroid treatment according to IgG4 concentration in pathologic breast tissue and recurrences after the end of treatment were determined. We think that high IgG4 concentration in the tissue is associated with recurrence and other immunosuppressive drugs should be added as maintenance after steroid treatment.

Osimertinib, a third-generation epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI), is routinely prescribed as first-line therapy for advanced non-small cell lung cancer, regardless of the presence of the T790M resistance mutation. This study reports a rare case of Factor V inhibitor detection during osimertinib therapy in a patient with lung adenocarcinoma. These findings underscore the importance of vigilant monitoring for coagulation abnormalities during EGFR-TKI therapy.

暂无摘要。

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is an important therapeutic option for patients with hematologic malignancies. However, the development of graft-versus-host disease (GVHD) after allo-HSCT remains a challenge. Although systemic steroid therapy is the established first-line therapy for acute GVHD (aGVHD) and chronic GVHD (cGVHD), many patients are unresponsive or resistant to corticosteroid therapy, and the response is insufficient. This study aimed to evaluate the clinical characteristics of patients who developed aGVHD and cGVHD after allo-HSCT. This noninterventional, retrospective study used large national registry data from the Transplant Registry Unified Management Program. The study included 29,690 patients with a hematologic disease who underwent their first allo-HSCT between January 2010 and December 2019. The primary study endpoints were the cumulative incidence of aGVHD and cGVHD. The secondary endpoints were overall survival (OS) and nonrelapse mortality (NRM) of patients with aGVHD and cGVHD and OS and NRM of patients who received second-line therapy for aGVHD. Of 29,690 patients who underwent allo-HSCT, the graft source was related bone marrow (RBM) in 2807, related peripheral blood (RPB) in 6167, unrelated bone marrow in 10,556, unrelated peripheral blood (UPB) in 774, and unrelated cord blood in 9339. The cumulative incidence of grade II-IV aGVHD at 100 days was high after the related and unrelated mismatched transplantation. The response rates for first- and second-line therapy for aGVHD were low in the RBM/RPB-mismatched (59.6%/61.6%) and UPB-mismatched subgroups (45.5%), respectively. The 3-year NRM in patients with aGVHD was high in the RPB and UPB mismatched subgroups (37.9% and 31.2%, respectively). Developing a novel treatment for steroid-refractory aGVHD is necessary to improve transplantation outcomes, particularly for patients undergoing HLA-mismatched allo-HSCT.

Sarcoidosis is an inflammatory and immune-mediated multisystemic disorder of unknown etiology, characterized by the presence of non-caseating granulomas, impacting various organs. This indolent condition manifests with numerous nonspecific symptoms and lacks a definitive diagnostic test, typically requiring histopathologic confirmation. However, a distinct and more readily diagnosable form of sarcoidosis does exist. The Löfgren syndrome (LöS) is characterized by the triad of erythema nodosum (EN), bilateral hilar lymphadenopathy, and symmetrical inflammatory arthralgias or arthritis. The simultaneous presence of these elements obviates the necessity for a biopsy. Predominantly affecting women in their second and third decades of life, this syndrome generally carries a favorable prognosis with spontaneous resolution or the requirement for a nonsteroidal anti-inflammatory drug (NSAID) alone. Despite its rarity, in particular cases, the treatment can be more challenging. This article presents a case study of LöS in a young woman, whose more aggressive disease course led to the need for steroidal therapy.

OBJECTIVE: Evidence for the benefit of steroid therapy in acute exacerbations (AEs) of idiopathic pulmonary fibrosis (IPF) is limited; however, they remain a cornerstone of management in other fibrotic interstitial lung diseases. This retrospective observational study assesses the effect of steroid treatment on in-hospital mortality in patients with acute exacerbation of fibrotic interstitial lung disease (AE-FILD) including IPF and non-IPF ILDs.
METHODS: AE-FILD cases over a 10-year period were filtered using a code-based algorithm followed by individual case evaluation. Binary logistic regression analysis was used to assess the relationship between corticosteroid treatment (defined as ≥0.5 mg/kg/day of prednisolone-equivalent for ≥3 days within the first 72 h of admission) and in-hospital mortality or need for lung transplantation. Secondary outcomes included readmission, overall survival, requirement for domiciliary oxygen and rehabilitation.
RESULTS: Across two centres a total of 107 AE-FILD subjects were included, of which 46 patients (43%) received acute steroid treatment. The steroid cohort was of younger age with fewer comorbidities but had higher oxygen requirements. Pre-admission FVC and DLCO, distribution of diagnoses and smoking history were similar. The mean steroid treatment dose was 4.59 mg/kg/day. Steroid use appeared to be associated with increased risk of inpatient mortality or transplantation (OR 4.11; 95% CI 1.00-16.83; p = 0.049). In the steroid group, there appeared to be a reduced risk of all-cause mortality in non-IPF patients (HR 0.21; 95% CI 0.04-0.96; p = 0.04) compared to their IPF counterparts. Median survival was reduced in the steroid group (221 vs. 520.5 days) with increased risk of all-cause mortality (HR 3.25; 95% CI 1.56-6.77; p < 0.01).
CONCLUSIONS: In this two-centre retrospective study of 107 patients, AE-FILD demonstrates a high risk of mortality, at a level similar to that seen for AE-IPF, despite steroid treatment. Clinicians should consider other precipitating factors for exacerbations and use steroids judiciously. Further prospective trials are needed to determine the role of corticosteroids in AE-FILD.

OBJECTIVE: To describe a case of peripapillary pachychoroid syndrome (PPS) in a diabetic patient with cystoid macular edema (CME), treated with intravitreal dexamethasone implant (IDI) injection. This report also illustrates the history of the disease after repeated IDI and dexamethasone topical treatment.
METHODS: A case report.
RESULTS: A 77-year old male patient with PPS and good diabetic control was treated with dexamethasone implant for CME. After an initial morphofunctional improvement associated with a first IDI, the disease relapsed after the second dexamethasone implant injection. This was associated with a significant increase in both intraretinal fluid and choroidal thickness, with subsequent visual acuity (VA) decrease. At this point, a topical dexamethasone treatment was performed and, despite a morphological improvement, VA worsened compared with baseline, likely because of anatomical damage.
CONCLUSIONS: In this report, the importance of the recognition of PPS is underlined and the possible occurrence of a \"rebound\" effect due to repeated IDI is described.