A 47-Year-Old Female With a Tubular, Nonenhancing Structure in the Left Lower Lobe.

A 47-year-old woman presented to the emergency department with sudden-onset dull nonradiating chest pain and palpitations. She denied other symptoms such as shortness of breath, dizziness, or diaphoresis. Her medical history was significant for generalized anxiety disorder, obesity, and former tobacco use (less than 1 pack per day for 5 years, quit more than 20 years ago).

Near-complete resolution of tumour thrombus in a patient with advanced non-seminomatous germ cell tumour: a multidisciplinary approach without surgical intervention.

Non-seminomatous germ cell tumours are aggressive testicular malignancies that can rarely present with intravascular tumour thrombus, a complication associated with significant morbidity and complex management. We report a young man with a mixed non-seminomatous germ cell tumour who presented with pulmonary embolism and a large tumour thrombus extending from the inferior vena cava to the right atrium and pulmonary veins. Due to haemodynamic instability, he received therapeutic anticoagulation and an abridged 'cycle 0' chemotherapy regimen, followed by standard bleomycin, etoposide and cisplatin and delayed orchiectomy.

Partial anomalous pulmonary venous return: diagnostic challenges and successful correction in a patient with progressive pulmonary hypertension.

Partial anomalous pulmonary venous return (PAPVR) is a rare congenital anomaly in which one or more pulmonary veins drain into the systemic venous system, creating a left-to-right shunt and potentially causing right-sided volume overload. Frequently associated with atrial septal defects, PAPVR may present with non-specific symptoms such as exertional dyspnoea and is often misdiagnosed as pulmonary hypertension of other origins. We describe a woman with progressive exertional dyspnoea and lower extremity oedema in the setting of newly identified precapillary pulmonary hypertension.

Successful use of aflibercept for high cardiac output in hereditary hemorrhagic telangiectasia after failure of pazopanib and bevacizumab therapy.

Hereditary hemorrhagic telangiectasia (HHT) can manifest with hepatic arteriovenous malformations, leading to a high cardiac output state and pulmonary hypertension. Bevacizumab is commonly used to treat this complication, but response is often partial and may diminish over time. We present a patient with ACVRL1-related HHT and high cardiac output who failed pazopanib and developed apparent bevacizumab resistance with symptom recurrence despite maintenance and reintroduced therapy.

Case report: Novel homozygous missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by pathogenic variants in genes within the transforming growth factor beta (TGF-β) signaling pathway, such as , leading to haploinsufficiency. Homozygous variants in HHT-related genes are exceptionally rare and have not been reported in -related HHT to date. We report the first known instance of a novel homozygous missense variant in the gene (c.

Glycogen storage disease type V: delayed diagnosis of a cause of exercise intolerance in a patient with hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder characterised by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations. Iron deficiency due to chronic bleeding events is a common manifestation that produces a range of nonspecific symptoms. We report on a patient with HHT with longstanding fatigue and exercise intolerance, which was persistently attributed to iron deficiency, who was revealed to have glycogen storage disease type V, an autosomal recessive metabolic myopathy caused by deficiency of myophosphorylase due to variants.

Passenger lymphocyte syndrome following minor ABO-mismatched liver transplantation.

Passenger lymphocyte syndrome is an immunologic disorder observed in solid organ and haematopoietic stem cell transplantation in which B lymphocytes within a donor graft are transferred to the recipient and subsequently produce circulating antibodies against host red blood cell antigens. The syndrome is most likely to occur in minor ABO blood group mismatched or Rh incompatible transplantation. Although generally mild and self-limited, the resulting haemolytic burden has the potential to increase the risk of infection, graft failure and death.

Heterozygous desmoplakin () variants presenting with early onset cardiomyopathy and refractory ventricular tachycardia.

Arrhythmogenic cardiomyopathy is a non-ischaemic cardiomyopathy characterised by the presence of myocardial dysfunction and inherited conduction disease that predisposes patients to malignant ventricular arrhythmias and sudden cardiac death. There is a growing awareness of the diverse phenotypic presentation of arrhythmogenic cardiomyopathy, which may demonstrate preferential involvement of the left, right or both ventricles. A subset of arrhythmogenic cardiomyopathy may be due to mutations of desmosomes, intercellular junctions of the myocardium that promote structural and electrical integrity.

Recurrence of Drug-Induced Lupus Secondary to Vedolizumab Use in a Patient With Crohn's Disease.

Drug-induced lupus is an autoimmune phenomenon characterized by the development of systemic lupus erythematosus-like clinical features after drug exposure. The entity is a clinical diagnosis. Evaluation consists of recognizing systemic lupus erythematosus-like features, identifying an appropriate causative agent, observing elevations of characteristic autoantibodies, and obtaining positive response with drug discontinuation.

Vaccines: a promising therapy for myelodysplastic syndrome.

Myelodysplastic neoplasms (MDS) define clonal hematopoietic malignancies characterized by heterogeneous mutational and clinical spectra typically seen in the elderly. Curative treatment entails allogeneic hematopoietic stem cell transplant, which is often not a feasible option due to older age and significant comorbidities. Immunotherapy has the cytotoxic capacity to elicit tumor-specific killing with long-term immunological memory.

Pulmonary hypertension in hereditary hemorrhagic telangiectasia: A clinical review.

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disorder characterized by recurrent spontaneous epistaxis, mucocutaneous telangiectasias, and solid organ arteriovenous malformations (AVMs). Pulmonary hypertension (PH) is an increasingly recognized complication in patients with HHT, most often precipitated by high-output heart failure in the presence of hepatic AVMs as well as pulmonary arterial hypertension in the form of a proliferative vasculopathy. The presence of PH in patients with HHT is associated with significant elevations in rates of morbidity and mortality.

Clinical presentation and neurovascular manifestations of cardiac myxomas and papillary fibroelastomas: a retrospective single-institution cohort study.

Background: Primary cardiac tumors are often benign and commonly present as cardiac myxomas (CMs) or papillary fibroelastomas (CPFEs). There is a paucity of prognostic indicators for tumor burden or potential for embolic cerebrovascular events (CVEs). This study was performed to address these gaps.

Systemic capillary leak syndrome secondary to decompression sickness.

Systemic capillary leak syndrome is a rare derangement of endothelial function characterised by extravasation of plasma and proteins into the interstitial space. Primary capillary leak syndrome is a rare, episodic medical illness of unknown molecular pathology while secondary capillary leak syndrome may be precipitated by any number of inflammatory and infectious syndromes. Decompression sickness, a disorder of depressurisation, has been identified as a very rare trigger.

Impact of genotype on clinical course in sickle cell disease and the utility of neutrophil-lymphocyte ratio: a ten-year single-institution experience.

Background: Sickle cell disease (SCD) is a diverse group of blood disorders with significant global disease burden. Contemporary interest in the underlying inflammatory paradigm of SCD has emphasized the role of the neutrophil-lymphocyte ratio (NLR) as a prognostic inflammatory marker.

Methods: We retrospectively reviewed 268 hospitalized patients with SCDs of different genotypes (HbSS, HbSβ thalassemia, HbSβ thalassemia, and HbSC), totaling 3329 hospital admissions over a 10-year period.