Unexpected serious aplastic anemia from PD-1 inhibitors: beyond what we know

2019 ◽  
Vol 105 (6) ◽  
pp. NP48-NP51 ◽  
Author(s):  
Marco Filetti ◽  
Raffaele Giusti ◽  
Arianna Di Napoli ◽  
Daniela Iacono ◽  
Paolo Marchetti
Keyword(s):  
Aplastic Anemia ◽  
Patient Outcomes ◽  
Case Reports ◽  
Stage Iv ◽  
Standard Of Care ◽  
Real World Data ◽  
Case Presentation ◽  
Lung Cancers ◽  
Insight Into ◽  
Made In

Introduction: The recent introduction of checkpoint inhibitor–based immunotherapy has revolutionized the treatment of advanced lung cancers, becoming standard of care in both first- and second-line treatment. New types of toxicity are emerging with the increasingly widespread use of these inhibitors. Case presentation: We describe a case of aplastic anemia in a patient with stage IV non-small cell lung cancer after a single administration of nivolumab. Conclusions: Several similar case reports reported in literature show an increasing rate of toxicities from immunotherapy in this setting. These real-world data provide an insight into patient outcomes and treatment decisions being made in clinical practice.

Afatinib in patients with metastatic HER2-mutant lung cancers: An international multicenter study.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 9071-9071 ◽  
Author(s):  
Wei-Chu Victoria Lai ◽  
Louisiane Lebas ◽  
Julie Milia ◽  
Tristan Alexandra Barnes ◽  
Oliver Gautschi ◽  
...  
Keyword(s):  
Overall Survival ◽  
Overall Response Rate ◽  
Response Rate ◽  
Kinase Inhibitor ◽  
Case Reports ◽  
Stage Iv ◽  
Partial Responder ◽  
Lung Cancers ◽  
Overall Response ◽  
Exon 20

9071 Background: Human epidermal growth factor 2 ( HER2, ERBB2) mutations have been identified as oncogenic drivers in 3% of lung cancers. Afatinib is an irreversible tyrosine kinase inhibitor of HER1 (EGFR), HER2 and HER4 and has been described in case reports to have activity in HER2-mutant lung cancers. However, there is little data to inform the clinical use of afatinib. Methods: We reviewed patients with metastatic HER2-mutant lung cancers treated with afatinib among 7 institutions between 2009 and 2016. The primary endpoint was investigator assessed overall response rate using RECIST v1.1. Other data collected included types of HER2mutations, duration of afatinib treatment and overall survival. Results: We identified 27 patients with metastatic HER2-mutant lung cancers treated with afatinib. Median age at diagnosis was 63 (range 40 to 84); majority were men (n = 16; 59%) and never-smokers (n = 18; 67%). All tumors were adenocarcinomas, and the majority were Stage IV at initial diagnosis (n = 16; 59%). A 12-base pair (bp) in-frame insertion YVMA in exon 20 (p.A775_G776insYVMA) was present in 16 patients (59%). In addition, there were three 9-bp insertions, two 3-bp insertions and two single bp substitutions (L755F and D769H) in exon 20; two single bp substitutions (S310F) in exon 8; one exon 17 V659E mutation; and one single-nucleotide polymorphism (Ile655Val). Median duration on afatinib was 2 months (range 1 to 27); median line of prior treatment was 3 (range 1 to 6). Eight patients had previously received trastuzumab prior to afatinib and one concurrently with afatinib. Overall response rate was 15% (n = 4; 95% CI 4 to 34%); the four partial responses lasted 5, 5, 6 and 10 months. The 3 longest partial responders had a 12-bp insertion in exon 20 (YVMA); the remaining partial responder had a 9-bp insertion in exon 20. Median overall survival from diagnosis date of metastatic disease was 23 months (95% CI 18 to 62). Conclusions: Afatinib produced partial responses in 15% of patients with metastatic HER2-mutant lung cancers, including insertion YVMA. Our findings confirm the activity of afatinib and provide data supporting a framework for its use in the care of patients with HER2-mutant lung cancers.

Will Love Tear Us Apart: Adapting the Lyrical to the Ludic

CounterText ◽  
2016 ◽  
Vol 2 (2) ◽  
pp. 217-235
Author(s):  
Gordon Calleja
Keyword(s):  
Design Process ◽  
Game Design ◽  
Digital Games ◽  
Design Decisions ◽  
The Core ◽  
Lyrical Poetry ◽  
Insight Into ◽  
Made In

This paper gives an insight into the design process of a game adaptation of Joy Division's Love Will Tear Us Apart (1980). It outlines the challenges faced in attempting to reconcile the diverging qualities of lyrical poetry and digital games. In so doing, the paper examines the design decisions made in every segment of the game with a particular focus on the tension between the core concerns of the lyrical work being adapted and established tenets of game design.

scholarly journals Spontaneous haemorrhage of an adrenal angiomyolipoma: case report

2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Danielle Whiting ◽  
Ian Rudd ◽  
Amit Goel ◽  
Seshadri Sriprasad ◽  
Sanjeev Madaan
Keyword(s):  
Case Reports ◽  
Case Presentation ◽  
Open Adrenalectomy ◽  
Large Size ◽  
History Of ◽  
Loin Pain ◽  
Benign Tumours ◽  
Spontaneous Haemorrhage ◽  
Mesenchymal Tumours

Abstract Background Angiomyolipomas are rare mesenchymal tumours arising from the perivascular epithelioid cells consisting of variable amounts of adipose, thick-walled blood vessels and smooth muscle cells. These benign tumours commonly occur in the kidney with only a few case reports of adrenal angiomyolipomas which have the potential to reach a large size and haemorrhage. Case presentation A 45-year-old lady presented with a 3-week history of right loin pain, nausea and vomiting. A CT scan revealed a right adrenal angiomyolipoma measuring 6.3 × 6.8 cm with associated haemorrhage. The lesion was successfully treated with right open adrenalectomy, and histology confirmed the diagnosis of adrenal angiomyolipoma. The patient remained well with no evidence of recurrence at the 36-month follow-up. Conclusion Adrenal angiomyolipomas are rare benign tumours that have the ability to reach a large size and potential to bleed. Here, we report the second case of spontaneous haemorrhage in an adrenal angiomyolipoma, which was successfully treated with open adrenalectomy.

scholarly journals Clozapine-induced stuttering in the absence of known risk factors: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Florence Jaguga
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Side Effect ◽  
Case Reports ◽  
Extrapyramidal Symptoms ◽  
Prior History ◽  
Case Presentation ◽  
Rare Side Effect ◽  
History Of ◽  
Electrophysiological Findings

Abstract Background Stuttering is a rare side effect of clozapine. It has been shown to occur in the presence of one or more factors such as abnormal electrophysiological findings and seizures, extrapyramidal symptoms, brain pathology, and a family history of stuttering. Few case reports have documented the occurrence of clozapine-induced stuttering in the absence of these risk factors. Case presentation A 29-year-old African male on clozapine for treatment-resistant schizophrenia presented with stuttering at a dosage of 400 mg/day that resolved with dose reduction. Electroencephalogram findings were normal, and there was no clinical evidence of seizures. The patient had no prior history or family history of stuttering, had a normal neurological examination, and showed no signs of extrapyramidal symptoms. Conclusion Clinicians ought to be aware of stuttering as a side effect of clozapine, even in the absence of known risk factors. Further research should investigate the pathophysiology of clozapine-induced stuttering.

scholarly journals SARS-CoV-2 infection in an infant with non-respiratory manifestations: a case report

2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Muhammad Adel ◽  
Ahmed Magdy
Keyword(s):  
Computed Tomography ◽  
Aplastic Anemia ◽  
Rt Pcr ◽  
Positive Real ◽  
Case Presentation ◽  
Chest Computed Tomography ◽  
High Incidence ◽  
Laboratory Investigations ◽  
High Index Of Suspicion ◽  
Specific Symptoms

Abstract Background Coronavirus disease (COVID-19) presents in children usually with less severe manifestations than in adults. Although fever and cough were reported as the most common symptoms, children can have non-specific symptoms. We describe an infant with aplastic anemia as the main manifestation. Case presentation We describe a case of SARS-CoV-2 infection in an infant without any respiratory symptoms or signs while manifesting principally with pallor and purpura. Pancytopenia with reticulocytopenia was the predominant feature in the initial laboratory investigations, pointing to aplastic anemia. Chest computed tomography surprisingly showed typical findings suggestive of SARS-CoV-2 infection. Infection was later confirmed by positive real-time reverse transcription polymerase chain reaction assay (RT-PCR) for SARS-CoV-2. Conclusions Infants with COVID-19 can have non-specific manifestations and a high index of suspicion should be kept in mind especially in regions with a high incidence of the disease. Chest computed tomography (CT) and testing for SARS-CoV-2 infection by RT-PCR may be considered even in the absence of respiratory manifestations.

scholarly journals Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Cristina Collazo Abal ◽  
Susana Romero Santos ◽  
Carmen González Mao ◽  
Emilio C. Pazos Lago ◽  
Francisco Barros Angueira ◽  
...  
Keyword(s):  
Aldehyde Oxidase ◽  
Renal Calculi ◽  
Xanthine Dehydrogenase ◽  
Type I ◽  
Dietary Recommendations ◽  
New Mutation ◽  
Case Presentation ◽  
Hereditary Xanthinuria ◽  
Urine Levels ◽  
Made In

Abstract Objectives Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II. Case presentation We describe a novel point mutation in the XDH gene in homozygosis found in a patient with very low serum and urine levels of uric acid, together with xanthinuria. He was asymptomatic but renal calculi were discovered during imaging. Additional cases were found in his family and dietary recommendations were made in order to prevent further complications. Conclusions Hereditary xanthinuria is an underdiagnosed pathology, often found in a routine analysis that shows hypouricemia. It is important for Laboratory Medicine to acknowledge how to guide clinicians in the diagnosis.

scholarly journals Fibromuscular dysplasia with recurrence after “long-term” following percutaneous transcatheter renal angioplasty: two case reports with a review of 26 patients

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Shuntaro Oribe ◽  
Takafumi Toyohara ◽  
Eikan Mishima ◽  
Takehiro Suzuki ◽  
Koichi Kikuchi ◽  
...  
Keyword(s):  
Fibromuscular Dysplasia ◽  
Age Of Onset ◽  
Case Reports ◽  
Case Presentation ◽  
Renal Angioplasty ◽  
Long Term Follow Up ◽  
Percutaneous Transluminal Renal Angioplasty ◽  
The Difference

Abstract Background Fibromuscular dysplasia (FMD) often causes renal artery stenosis with renovascular hypertension. Recent clinical outcomes encourage percutaneous transluminal renal angioplasty (PTRA) to treat FMD; however, the necessary follow-up period remains unclear. Moreover, previous studies have not revealed the difference in the period until recurrence between two major types of FMD—multifocal and focal. Case presentation We describe two patients with multifocal FMD who developed hypertension during their teenage years and had recurrence of FMD > 10 years after PTRA. We further examined the types of FMD and age of onset in 26 patients who underwent PTRA. The period until recurrence of multifocal FMD was longer than that of focal FMD. Moreover, patients with early-onset multifocal FMD are likely to have a delayed recurrence after PTRA compared to other types. Conclusions Our report suggests that patients with multifocal FMD, especially those with onset at an early age, may need long-term follow-up for at least ≥ 10 years.

scholarly journals Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Fabio Antonaci ◽  
Sabrina Ravaglia ◽  
Gaetano S. Grieco ◽  
Stella Gagliardi ◽  
Cristina Cereda ◽  
...  
Keyword(s):  
Case Reports ◽  
3D Structure ◽  
Familial Hemiplegic Migraine ◽  
Transmembrane Helices ◽  
Hemiplegic Migraine ◽  
Case Presentation ◽  
Italian Family ◽  
Protein Prediction ◽  
Functional Consequences

Abstract Background The mechanisms of genotype-phenotype interaction in Familiar Hemiplegic migraine type 2 (FHM2) are still far from clear. Different ATP1A2 mutations have been described, with a spectrum of phenotypes ranging from mild to severe. No genotype-phenotype correlations have been attempted. Case presentation We describe an Italian family with FHM and a missense ATP1A2 variant (L425H) not previously described. The clinical picture was mild in all the affected members. Conclusions Co-segregation of the variant with the aura phenotype was complete in this family, suggesting a 100% penetrance. In silico protein prediction softwares indicate that this variant may change the 3D structure of ATPA1A2 at the cytoplasmic loop between the two central transmembrane helices. Milder FHM phenotypes are rarely reported in literature, likely because case reports are biased towards the most severe phenotypes, with milder forms possibly misdiagnosed as sporadic migraine with aura forms (MAs), even with complex auras. Further studies taking into account intra-familiar variability and functional consequences on the channel protein may help clarify genotype-phenotype correlations.

scholarly journals Severe pneumonia caused by Parvimonas micra: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qing Yu ◽  
Lingling Sun ◽  
Zuqing Xu ◽  
Lumei Fan ◽  
Yunbo Du
Keyword(s):  
Bronchoalveolar Lavage Fluid ◽  
Case Reports ◽  
Severe Pneumonia ◽  
Lavage Fluid ◽  
Due Date ◽  
Case Presentation ◽  
Abdominal Abscesses ◽  
Parvimonas Micra ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background Parvimonas micra (P. micra) is a gram-positive anaerobic coccus that is detected widely on the skin, in the oral mucosa and in the gastrointestinal tract. In certain circumstances, P. micra can cause abdominal abscesses, bacteraemia and other infections. To the best of our knowledge, there have been no case reports describing the biological characteristics of P. micra-related pneumonia. These bacteria do not always multiply in an aerobic organ, such as the lung, and they could be easily overlooked because of the clinical mindset. Case presentation A 35-year-old pregnant woman was admitted to the emergency department 4 weeks prior to her due date who was exhibiting 5 points on the Glasgow coma scale. A computed tomography (CT) scan showed a massive haemorrhage in her left basal ganglia. She underwent a caesarean section and brain surgery before being admitted to the ICU. She soon developed severe pneumonia and hypoxemia. Given that multiple sputum cultures were negative, the patient’s bronchoalveolar lavage fluid was submitted for next-generation sequencing (NGS) to determine the pathogen responsible for the pneumonia; as a result, P. micra was determined to be the causative pathogen. Accordingly the antibiotic therapy was altered and the pneumonia improved. Conclusion In this case, we demonstrated severe pneumonia caused by the anaerobic organism P. micra, and the patient benefited from receiving the correct antibiotic. NGS was used as a method of quick diagnosis when sputum culture failed to distinguish the pathogen.

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