Natural history of KBG syndrome in a large European cohort.

KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context of a European collaborative study, we collected the largest cohort of KBGS patients (49). A combined array- based Comparative Genomic Hybridization and next generation sequencing (NGS) approach investigated both genomic Copy Number Variants and SNVs. Intellectual disability (ID) (82%) ranged from mild to moderate with severe ID identified in two patients. Epilepsy was present in 26.5%. Short stature was consistent over time, while occipitofrontal circumference (median value: -0.88 SD at birth) normalized over years. Cerebral anomalies, were identified in 56% of patients and thus represented the second most relevant clinical feature reinforcing clinical suspicion in the paediatric age when short stature and vertebral/dental anomalies are vague. Macrodontia, oligodontia and dental agenesis (53%) were almost as frequent as skeletal anomalies, such as brachydactyly, short fifth finger, fifth finger clinodactyly, pectus excavatum/carinatum, delayed bone age. In 28.5% of individuals, prenatal ultrasound anomalies were reported. Except for three splicing variants, leading to a premature termination, variants were almost all frameshift. Our results, broadening the spectrum of KBGS phenotype progression, provide useful tools to facilitate differential diagnosis and improve clinical management. We suggest to consider a wider range of dental anomalies before excluding diagnosis and to perform a careful odontoiatric/ear-nose-throat (ENT) evaluation in order to look for even submucosal palate cleft given the high percentage of palate abnormalities. NGS approaches, following evidence of antenatal ultrasound anomalies, should include ANKRD11.

Implementation of the Helsinki Model at West Tallinn Central Hospital.

Ischemic stroke is defined as neurological deficit caused by brain infarction. The intravenous tissue plasminogen activator, alteplase, is an effective treatment. However, efficacy of this method is time dependent. An important step in improving outcome and increasing the number of patients receiving alteplase is the shortening of waiting times at the hospital, the so-called door-to-needle time (DNT). The comprehensive Helsinki model was proposed in 2012, which enabled the shortening of the DNT to less than 20 min. Background and Objectives: The aim of this study was to analyze the transferability of the suggested model to the West Tallinn Central Hospital (WTCH). Materials and Methods: Since the first thrombolysis in 2005, all patients are registered in the WTCH thrombolysis registry. Several steps following the Helsinki model have been implemented over the years. Results: The results demonstrate that the number and also the percent of thrombolysed stroke patients increased during the years, from a few thrombolysis annually, to 260 in 2021. The mean DNT dropped significantly to 33 min after the implementation of several steps, from the emergency medical services (EMS) prenotification with a phone call to the neurologists, to the setting-up of a thrombolysis team based in the stroke unit. Also, the immediate start of treatment using a computed tomography table was introduced. Conclusions: In conclusion, several implemented steps enabled the shortening of the DNT from 30 to 25.2 min. Short DNTs were achieved and maintained only with EMS prenotification.