Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Background: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP ) receptor type 1 (IP R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital spinocerebellar ataxia type 29 (SCA29), Gillespie syndrome (GLSP), and severe pontine/cerebellar hypoplasia. The pathophysiological basis of the different phenotypes is poorly understood.

Functioning, psychiatric symptoms and quality of life of individuals with severe mental disorders after psychiatric rehabilitation.

Purpose: Psychiatric disorders may have a negative effect on individuals' living, forming intimate relationships, education, and employment. The aim of psychiatric rehabilitation is to promote recovery - finding ways to cope with mental disorders despite debilitating symptoms. This study aimed to explore the outcomes of accommodation, social inclusion, psychiatric symptoms, substance and service use, quality of life and subjective recovery of young adults with severe mental illness after psychiatric rehabilitation.

Effect of onset age on the long-term outcome of early-onset psychoses and other mental disorders: a register-based Northern Finland Birth Cohort 1986 study.

Psychiatric illnesses can affect the social transitions of adolescence and young adulthood, such as completing education and entering working life and relationships. However, associations between earlier onset age and long-term outcomes among those with early-onset psychoses (EOP) are unclear, as are the long-term outcomes of EOP compared to non-psychotic disorders. We used national register data of the Northern Finland Birth Cohort 1986 to detect persons with EOP and other early-onset psychiatric disorders.

Red cell distribution width and mortality in older patients with frailty in the emergency department.

Background: The red cell distribution width (RDW) reflects the degree of heterogeneity of red blood cells. Elevated RDW is associated both with frailty and with increased mortality in hospital-admitted patients. In this study we evaluate whether high RDW values are associated with mortality in older emergency department (ED) patients with frailty, and if the association is independent of the degree of frailty.

Reduced Bone Mass in Collagen Prolyl 4-Hydroxylase ; Compound Mutant Mice.

Proper deposition of the extracellular matrix and its major components, the collagens, is essential for endochondral ossification and bone mass accrual. Collagen prolyl 4-hydroxylases (C-P4Hs) hydroxylate proline residues in the -X-Pro-Gly- repeats of all known collagen types. Their product, 4-hydroxyproline, is essential for correct folding and thermal stability of the triple-helical collagen molecules in physiological body temperatures.

Low body temperature and mortality in older patients with frailty in the emergency department.

Purpose: The aim of this study was to assess the association between low body temperature and mortality in frail older adults in the emergency department (ED).

Methods: Inclusion criteria were: ≥ 75 years of age, Clinical Frailty Scale (CFS) score of 4-8, and temperature documented at ED admission. Patients were allocated to three groups by body temperature: low ≤ 36.

The emergency department arrival mode and its relations to ED management and 30-day mortality in acute heart failure: an ancillary analysis from the EURODEM study.

Background: Acute heart failure patients are often encountered in emergency departments (ED) from 11% to 57% using emergency medical services (EMS). Our aim was to evaluate the association of EMS use with acute heart failure patients' ED management and short-term outcomes.

Methods: This was a sub-analysis of a European EURODEM study.

Systematic geriatric assessment for older patients with frailty in the emergency department: a randomised controlled trial.

Background: Comprehensive geriatric assessment provided in hospital wards in frail patients admitted to hospital has been shown to reduce mortality and increase the likelihood of living at home later. Systematic geriatric assessment provided in emergency departments (ED) may be effective for reducing days in hospital and unnecessary hospital admissions, but this has not yet been proven in randomised trials.

Methods: We conducted a single-centre, randomised controlled trial with a parallel-group, superiority design in an academic hospital ED.

National Early Warning Score 2 (NEWS2) and 3-level triage scale as risk predictors in frail older adults in the emergency department.

Background: The aim of the emergency department (ED) triage is to recognize critically ill patients and to allocate resources. No strong evidence for accuracy of the current triage instruments, especially for the older adults, exists. We evaluated the National Early Warning Score 2 (NEWS2) and a 3-level triage assessment as risk predictors for frail older adults visiting the ED.

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

Background: Medulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MB , MB , MB , and MB , representing the second most common type of pediatric brain cancer after high-grade gliomas. They suffer from a high prevalence of genetic predisposition with up to 20% of MB caused by germline mutations in only six genes. However, the spectrum of germline mutations in MB remains incomplete.

A long hypoxia-inducible factor 3 isoform 2 is a transcription activator that regulates erythropoietin.

Hypoxia-inducible factor (HIF), an αβ dimer, is the master regulator of oxygen homeostasis with hundreds of hypoxia-inducible target genes. Three HIF isoforms differing in the oxygen-sensitive α subunit exist in vertebrates. While HIF-1 and HIF-2 are known transcription activators, HIF-3 has been considered a negative regulator of the hypoxia response pathway.

Anticholinergic medications in patients admitted with cognitive impairment or falls (AMiCI). The impact of hospital admission on anticholinergic cognitive medication burden. Results of a multicentre observational study.

What Is Known And Objective: Drugs with anticholinergic properties increase the risk of falls, delirium, chronic cognitive impairment, and mortality and counteract procholinergic medications used in the treatment of dementia. Medication review and optimisation to reduce anticholinergic burden in patients at risk is recommended by specialist bodies. Little is known how effective this review is in patients who present acutely and how often drugs with anticholinergic properties are used temporarily during an admission.

Frequency and Prognostic Significance of Abnormal Liver Function Tests in Patients With Cardiogenic Shock.

Cardiogenic shock (CS) is a cardiac emergency often leading to multiple organ failure and death. Assessing organ dysfunction and appropriate risk stratification are central for the optimal management of these patients. The purpose of this study was to assess the prevalence of abnormal liver function tests (LFTs), as well as early changes of LFTs and their impact on outcome in CS.

Ventricular conduction abnormalities as predictors of long-term survival in acute de novo and decompensated chronic heart failure.

Aims: Data on the prognostic role of left and right bundle branch blocks (LBBB and RBBB), and nonspecific intraventricular conduction delay (IVCD; QRS ≥ 110 ms, no BBB) in acute heart failure (AHF) are controversial. Our aim was to investigate electrocardiographic predictors of long-term survival in patients with AHF and acutely decompensated chronic heart failure (ADCHF).

Methods And Results: We analysed the admission electrocardiogram of 982 patients from a multicenter European cohort of AHF with 3.

Use of psychiatric medications in schizophrenia and other psychoses in a general population sample.

The information on the use of psychiatric medications in general population-based samples is limited. Our aim was to analyse the use of psychiatric medications and factors associated with antipsychotic use in psychoses in a general population sample. Fifty-five persons with schizophrenia, 21 with bipolar psychosis or psychotic depression and 20 with other psychoses from the Northern Finland Birth Cohort 1966 were examined at about 43 years of age.

Acute heart failure with and without concomitant acute coronary syndromes: patient characteristics, management, and survival.

Background: Acute coronary syndromes (ACS) may precipitate up to a third of acute heart failure (AHF) cases. We assessed the characteristics, initial management, and survival of AHF patients with (ACS-AHF) and without (nACS-AHF) concomitant ACS.

Methods And Results: Data from 620 AHF patients were analyzed in a prospective multicenter study.

Management of acute heart failure and the effect of systolic blood pressure on the use of intravenous therapies.

Aims: To examine the use of the treatments for acute heart failure (AHF) recommended by ESC guidelines in different clinical presentations and blood pressure groups.

Methods: The use of intravenous diuretics, nitrates, opioids, inotropes, and vasopressors as well as non-invasive ventilation (NIV) was analysed in 620 patients hospitalized due to AHF. The relation between AHF therapies and clinical presentation, especially systolic blood pressure (SBP) on admission, was also assessed.

The role of cardiorenal biomarkers for risk stratification in the early follow-up after hospitalisation for acute heart failure.

Context: Cardiorenal biomarkers (CBs) predict outcome in acute heart failure (AHF).

Objective: To evaluate CBs in early follow-up prognostication.

Methods: In 124 AHF patients, levels of CystatinC, NT-proBNP and TroponinI measured five weeks from admission (W5) and relative change from day 2 (D2) were assessed for 6-month prognosis (mortality/HF hospitalization).

Dexmedetomidine in addition to benzodiazepine-based sedation in patients with alcohol withdrawal delirium.

Alcohol withdrawal delirium (AWD) is often refractory to conventional medication. We report a prospective series of patients treated with α2-agonist dexmedetomidine added to conventional sedation. Eighteen patients with AWD were diagnosed by Confusion assessment method for ICU score.

Long-term survival after hospitalization for acute heart failure--differences in prognosis of acutely decompensated chronic and new-onset acute heart failure.

Aims: To analyze the five-year mortality after hospitalization for acute heart failure (AHF) and compare predictors of prognosis in patients with and without a previous history of heart failure.

Methods: Patients with AHF (n=620) from the prospective multicenter FINN-AKVA study were classified as acutely decompensated chronic heart failure (ADCHF) or de-novo AHF if no previous history of heart failure was present. Both all-cause mortality during five years of follow-up and prognostic factors were determined.

Growth factor expression in degenerated intervertebral disc tissue. An immunohistochemical analysis of transforming growth factor beta, fibroblast growth factor and platelet-derived growth factor.

Degenerated intervertebral disc has lost its normal architecture, and there are changes both in the nuclear and annular parts of the disc. Changes in cell shape, especially in the annulus fibrosus, have been reported. During degeneration the cells become more rounded, chondrocyte-like, whereas in the normal condition annular cells are more spindle shaped.

Oncoprotein c-Fos and c-Jun immunopositive cells and cell clusters in herniated intervertebral disc tissue.

The oncoproteins c-Fos and c-Jun create a transcriptional site early response activating protein (AP-1) mediating the regulation of gene expression in response to extracellular signalling by, for example, cytokines. These proteins are important in the signalling pathway from the cell membrane to the nucleus. Previously, oncoproteins have been located in articular synovium and in chondrocytes, participating in transcription.