Impact of COVID-19 Restrictions on Incidence of Enteropathogenic Bacteria, Virus, and Parasites in Denmark: A National, Register-Based Study.

Diarrheal diseases caused by enteric pathogens are a significant public health concern. It is widely considered that close contact between persons, poor hygiene, and consumption of contaminated food are the primary causes of gastroenteritis. Clinical microbiology laboratory observations indicate that the incidence of enteropathogenic microorganisms may have been reduced in Denmark during the COVID-19 pandemic.

Alcohol-related liver disease phenotype impacts survival after an acute variceal bleeding episode.

Background & Aims: Alcohol-related hepatitis (AH) encompasses a high mortality. AH might be a concomitant event in patients with acute variceal bleeding (AVB). The current study aimed to assess the prevalence of AH in patients with AVB and to compare the clinical outcomes of AH patients to other alcohol-related liver disease (ALD) phenotypes and viral cirrhosis.

Hepatic encephalopathy is not a contraindication to pre-emptive TIPS in high-risk patients with cirrhosis with variceal bleeding.

Background: A pre-emptive transjugular intrahepatic portosystemic shunt (pTIPS) reduces mortality in high-risk patients with cirrhosis (Child-Pugh C/B+active bleeding) with acute variceal bleeding (AVB). Real-life studies point out that <15% of patients eligible for pTIPS ultimately undergo transjugular intrahepatic portosystemic shunt (TIPS) due to concerns about hepatic encephalopathy (HE). The outcome of patients undergoing pTIPS with HE is unknown.

Biomechanical Morphing for Personalized Fitting of Scoliotic Torso Skeleton Models.

The use of patient-specific biomechanical models offers many opportunities in the treatment of adolescent idiopathic scoliosis, such as the design of personalized braces. The first step in the development of these patient-specific models is to fit the geometry of the torso skeleton to the patient's anatomy. However, existing methods rely on high-quality imaging data.

Intervariability in radiographic parameters and general evaluation of a low-dose fluoroscopic technique in patients with idiopathic scoliosis.

Background: Radiographic images in adolescent idiopathic scoliosis (AIS) have a potential radiation-induced oncogenic effect; thus lowering radiation dose by using fluoroscopic imaging technique of low-dose fluoroscopic technique (LFT) which might be relevant for clinical evaluation.

Purpose: To compare radiographs of LFT with gold standard radiographs for AIS ordinary radiographic technique (ORT).

Material And Methods: Image quality was evaluated for LTF and ORT of a child phantom and two 3D-printed models (3DPSs) of AIS.

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF.

Effects of Early Placement of Transjugular Portosystemic Shunts in Patients With High-Risk Acute Variceal Bleeding: a Meta-analysis of Individual Patient Data.

Background & Aims: Compared with drugs plus endoscopy, placement of transjugular portosystemic shunt within 72 hours of admission to the hospital (early or preventive transjugular intrahepatic portosystemic shunt [TIPS], also called preemptive TIPS) increases the proportion of high-risk patients with cirrhosis and acute variceal bleeding who survive for 1 year. However, the benefit of preemptive TIPS is less clear for patients with a Child-Pugh score of B and active bleeding (CP-B+AB). We performed an individual data meta-analysis to assess the efficacy of preemptive TIPS in these patients and identify factors associated with reduced survival of patients receiving preemptive TIPS.

Rebleeding and mortality risk are increased by ACLF but reduced by pre-emptive TIPS.

Background & Aims: The relationship between acute-on-chronic liver failure (ACLF) and acute variceal bleeding (AVB) is poorly understood. Specifically, the prevalence and prognosis of ACLF in the context of AVB is unclear, while the role of transjugular intrahepatic portosystemic shunt (TIPS) in the management in patients with ACLF has not been described to date.

Methods: A multicenter, international, observational study was conducted in 2,138 patients from 34 centers between 2011 and 2015.

Intensive screening for osteoporosis in patients with hip fracture.

Unlabelled: Opportunities to evaluate, treat, and prevent future osteoporotic fractures are often being overlooked, especially in patients with a prior osteoporotic fracture. We find that an intensive outreach osteoporosis investigation strategy can help increase the number of patients investigated and treated for osteoporosis following a hip fracture.

Purpose: Patients experiencing a hip fracture are subject to an increased risk of subsequent fractures.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.

Purpose: To provide a detailed electroclinical description and expand the phenotype of PIGT-CDG, to perform genotype-phenotype correlation, and to investigate the onset and severity of the epilepsy associated with the different genetic subtypes of this rare disorder. Furthermore, to use computer-assisted facial gestalt analysis in PIGT-CDG and to the compare findings with other glycosylphosphatidylinositol (GPI) anchor deficiencies.

Methods: We evaluated 13 children from eight unrelated families with homozygous or compound heterozygous pathogenic variants in PIGT.

The effects of rotation on radiological parameters in the spine.

Background: Vertebral rotation in straight spines or in spines with small scoliosis may potentially affect measurement of radiological parameters in both the frontal and sagittal plane. This is important, since it could lead to potential misdiagnosis of scoliosis and other clinical consequences, and until now, this has not been examined.

Purpose: To examine the effect of axial vertebral rotation of the spine on measurement of common radiological parameters.

Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum.

We report a novel patient with the phenotypic characteristics of Schaaf-Yang syndrome. In addition, the patient has a severe chronic digestive malfunction, rendering him dependent on intermittent enteral supplementation. To our knowledge, this is the first report of Schaaf-Yang syndrome associated with severe chronic digestive malfunction manifesting with both a malrotation and signs of a chronic intestinal pseudo-obstruction.

Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.

We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previously only been reported in two patients, while the thalamic infarction and germinal matrix haemorrhage are novel features.

Persistent organic pollutants and penile bone mineral density in East Greenland and Canadian polar bears (Ursus maritimus) during 1996-2015.

Persistent organic pollutants (POPs) are long-range transported to the Arctic via atmospheric and oceanic currents, where they biomagnify to high concentrations in the tissues of apex predators such as polar bears (Ursus maritimus). A major concern of POP exposure is their physiological effects on vital organ-tissues posing a threat to the health and survival of polar bears. Here we examined the relationship between selected POPs and baculum bone mineral density (BMD) in the East Greenland and seven Canadian subpopulations of polar bears.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Background: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification.

The relationship between the use of statins and mortality, severity, and pancreatic cancer in Danish patients with chronic pancreatitis.

Objectives: Chronic pancreatitis (CP) is associated with a shortened life expectancy. Statins have anti-inflammatory properties and we aimed to evaluate the association between the use of statins and the risk of death, progression of CP, and pancreatic cancer in patients with CP.

Patients And Methods: We carried out a nested case-cohort study and included patients with CP.

Persistent organic pollutants, skull size and bone density of polar bears (Ursus maritimus) from East Greenland 1892-2015 and Svalbard 1964-2004.

We investigated skull size (condylobasal length; CBL) and bone mineral density (BMD) in polar bears (Ursus maritimus) from East Greenland (n = 307) and Svalbard (n = 173) sampled during the period 1892-2015 in East Greenland and 1964-2004 at Svalbard. Adult males from East Greenland showed a continuous decrease in BMD from 1892 to 2015 (linear regression: p < 0.01) indicating that adult male skulls collected in the early pre-pollution period had the highest BMD.

The role of the paravertebral muscles in adolescent idiopathic scoliosis evaluated by temporary paralysis.

Background: Muscle imbalance has been suggested as implicated in the pathology of adolescent idiopathic scoliosis (AIS). The specific "pathomechanic" role of the paravertebral muscles as being scoliogenic (inducing scoliosis) or counteracting scoliosis in the initial development and maintenance of this spinal deformity has yet to be clarified in humans. In the present study, we investigated the radiographic changes of temporal paralysis using botulinum toxin A as localized injection therapy (ITB) in the psoas major muscle in AIS patients.

Reduced risk of decompensation and death associated with use of statins in patients with alcoholic cirrhosis. A nationwide case-cohort study.

Background: Reports have indicated that the use of statins may ameliorate the course of cirrhosis.

Aim: To determine the relationship between use of statins and mortality rate in patients with cirrhosis.

Methods: We did a retrospective case-cohort analysis based on data from the Danish registers from the period 1995 through 2014.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients.

Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations.

Design, Setting, And Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1.