Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.

Purpose: The pace of Mendelian gene discovery is slowed by the "n-of-1 problem"-the difficulty of establishing the causality of a putatively pathogenic variant in a single person or family. Identification of an unrelated person with an overlapping phenotype and suspected pathogenic variant in the same gene can overcome this barrier, but it is often impeded by lack of a convenient or widely available way to share data on candidate variants/genes among families, clinicians, and researchers.

Methods: Social networking among families, clinicians, and researchers was used to identify three children with variants of unknown significance in KDM1A and similar phenotypes.

Rorschach inkblot method data at baseline and after 2 years treatment of consecutively admitted patients with first-episode schizophrenia.

Background: The Rorschach Inkblot Method is regarded as an important clinical instrument for detailed diagnostic description of the integrative capacities of individuals in psychotic states and as an instrument for measuring progression in the course of treatment.

Aims: To describe relevant Rorschach variables at baseline in a group of consecutively admitted patients with first-episode schizophrenia. Furthermore, to describe the changes in these variables from baseline to year 2 for the group of patients given psychiatric standard treatment, and to compare these changes with changes in other outcome measures [Positive and Negative Syndrome Scale (PANSS), Global Assessment of Functioning (GAF), Strauss-Carpenter and socio-demographic variables].

Postoperative pain management on surgical wards-impact of database documentation of anesthesia organized services.

Postoperative pain management (POPM) should be based on an organization exploiting existing expertise and documenting the outcome of the POPM in each individual patient. The aims of the present study were to evaluate the adequacy of database documentation of POPM of an anesthesia organized, nurse-based, anesthesiologist-supervised acute pain service (APS) on surgical wards and to assess to what extent the information obtained was continuously used to improve practice. From 2890 registered cases in the database (patient controlled analgesia, n = 1975; epidural analgesia [EDA], n = 915), a homogeneous two-year sample of documentation charts from use of EDA for POPM in connection with major, open, abdominal surgical procedures (n = 381) was chosen for detailed analysis.

A Neuropsychological Study of Patients Exposed to Organic Solvents.

Sixty-seven male patients exposed to organic solvents were neurospychologically examined. Twenty-five subjects had possible causes of encephalopathy other than solvent exposure, leaving 42 patients for the study of the association between exposure and neuropsychological test results. The patients had been heavily exposed for, on average, 24.

The influence of low-line and high-line milking plants on udder health and lipolysis.

The basis vacuum level of the milking machines participating in the field survey was 35.0 Hg (approximately equal to 47 kPa) and 38.0 Hg (approximately equal to 51 kPa) for machines with low-level and high-level pipelines, respectively.

Treatment of acute suppurative otitis media.

The effect of myringotomy versus Penicillin therapy in the treatment of patients with acute suppurative otitis media was compared. A third group of patients treated with both myringotomy and Penicillin was included in the investigation. Ten days after institution of the treatment there were significantly more days with secretion/bulging drum in the myringotomy group than in the two other groups.