Harnessing Twitter to empower scientific engagement and communication: The ISTH 2020 virtual congress experience.

As a result of the coronavirus disease 2019 pandemic, the International Society on Thrombosis and Haemostasis (ISTH), like many societies around the world, canceled their in-person hematology congress planned for Milan, Italy, in July 2020. As a result, the first virtual ISTH congress in the organisation's 51-year history was delivered, inviting free registration from across the globe. As part of the social media support, marketing, and scientific dissemination efforts for the virtual congress, the ISTH assembled a group of official Twitter Ambassadors, which represented the broad and diverse ISTH community.

Impact of trimethylaminuria on daily psychosocial functioning.

Background: Trimethylaminuria (TMAU) (OMIM #602079) is a rare inherited metabolic condition. TMAU is associated with decreased hepatic trimethylamine N-oxidation, which leads to an excess of the volatile trimethylamine (TMA) instead of substrate conversion to trimethylamine N-oxide (TMAO). TMA is a tertiary amine derived from the enterobacterial metabolism of precursors such as choline and phosphatidylcholine present in the diet, and is also a bacterial metabolite of TMAO, a normal constituent of saltwater fish.

Ultra-low-dose spinal anaesthesia for elective hip arthroplasty in a patient with severe pulmonary hypertension.

Pulmonary hypertension is a complex chronic cardiopulmonary disease. The condition is an independent risk-factor for peri-operative morbidity and mortality in patients undergoing non-cardiac surgery, with mortality rates of up to 18%. Due to this, patients with pulmonary hypertension are frequently counselled against undergoing all but essential surgery.

Cardiac MRI prior to liver biopsy in a Fontan patient: A case report.

The management of adults with complex congenital heart disease requires a multidisciplinary team (Heart Team).

Extending the Phenotypic Spectrum Associated with Mutations: A Case of Dystonia.

Background: Mutations in the STIP1 homology and U-box containing protein 1 gene were first described in 2013 and lead to disorders with symptoms including ataxia and dysarthria, such as spinocerebellar autosomal-recessive ataxia type 16 (SCAR16), Gordon-Holmes syndrome, and spinocerebellar ataxia type 48. There have been 15 families described to date with SCAR16.

Cases: We describe a 45-year-old right-handed woman with dysarthria, ataxia, and cervical dystonia with SCAR16 with 2 compound heterozygous variants in the STIP1 homology and U-box containing protein 1 gene, and a family history significant for her 47-year-old sister with dysarthria and cognitive problems.

VTE risk assessment in pregnancy.

A State of the Art lecture, "VTE Risk Assessment in Pregnancy," was presented at the ISTH congress in Melbourne, Australia, in 2019. Venous thromboembolism (VTE) remains a leading cause of death in pregnancy and in the postpartum period. Moreover, VTE can result in lifelong disability.

Antibody-Negative Paraneoplastic Limbic Encephalitis, Parkinsonism, Hypothermia, and Narcolepsy Associated with Endometrial Carcinoma.

Background: We describe the clinical and neuropathological features of a patient with T-cell-mediated paraneoplastic limbic encephalitis, parkinsonism, hypothermia, and narcolepsy-like presentation associated with endometrial carcinoma.

Objectives: This patient with prominent parkinsonism and narcolepsy broadens the phenotype of known paraneoplastic syndromes and demonstrates the importance of investigation for occult malignancy even in the absence of paraneoplastic antibodies.

Methods: This is a case report with diagnosis confirmed at postmortem.

The genetic and biochemical basis of trimethylaminuria in an Irish cohort.

Background: Inherited trimethylaminuria (TMAU), a rare genetic disorder of hepatic metabolism of trimethylamine (TMA) causing excessive accumulation of malodorous trimethylamine (TMA), is a socially distressing disorder. Diagnosis is made by biochemical analysis of urine, with the calculation of flavin monooxygenase trimethylamine conversion capacity. Genetic testing, sequencing the entire coding region of the gene has been recommended for affected individuals who convert less than 90% of the total TMA load to TMAO.

Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency.

Lipin-1 is a phosphatidic acid phosphohydrolase (EC 3.1.3.

Liver stiffness and thrombin generation in compensated cirrhosis.

Background: Decompensated cirrhosis is associated with coagulation abnormalities that can increase the risk of thrombosis and bleeding. It is unclear precisely when these abnormalities arise and whether they are exacerbated as compensated cirrhosis progresses. Transient elastography using FibroScan generates liver stiffness measurements (LSM) that associate with portal hypertension, clinical outcomes and provides prognostic information at an earlier stage than traditional liver function scores eg, MELD score.

Endothelial barrier protective properties of low molecular weight heparin: A novel potential tool in the prevention of cancer metastasis?

Background: One of the key events in the progression of cancer metastasis is the trans-endothelial migration of circulating tumor cells. Moreover, inhibition of tumor-induced vascular permeability has been shown to inhibit metastasis in vivo. Low molecular weight heparin (LMWH) appears to confer a survival benefit in cancer but the underlying mechanisms are poorly understood.

Hypertension presenting early in pregnancy.

Paraganglioma in pregnancy is an exceedingly rare and potentially life-threatening diagnosis. It is important that the clinicians consider secondary causes when women present with hypertension in early pregnancy.

SCA 6 with Writer's Cramp: The Phenotype Expanded.

Spinocerebellar ataxia type 6 (SCA6) presents typically with a pure cerebellar syndrome. Only 1 SCA 6 patient with writer's cramp has been reported on and a family history of ataxia and writer's cramp has never been reported on. Two other SCA6 patients with a shoulder girdle/hand dystonia and unspecified upper-limb dystonia with a family history of ataxia have been reported on.

How Do I Examine Rigidity and Spasticity?

Examination of tone (increased resistance to the passive movement of a joint) is a clinically useful and occasionally neglected part of the neurological examination. Rigidity and spasticity are two distinct types of hypertonia that arise from distinct anatomical pathways. The ability to differentiate between these two entities therefore gives important information regarding localization.