Novel variants in the SOX11 gene: clinical description of seven new patients.

Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo SOX11 variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants.

Human aneuploid cells depend on the RAF/MEK/ERK pathway for overcoming increased DNA damage.

Aneuploidy is a hallmark of human cancer, yet the molecular mechanisms to cope with aneuploidy-induced cellular stresses remain largely unknown. Here, we induce chromosome mis-segregation in non-transformed RPE1-hTERT cells and derive multiple stable clones with various degrees of aneuploidy. We perform a systematic genomic, transcriptomic and proteomic profiling of 6 isogenic clones, using whole-exome DNA, mRNA and miRNA sequencing, as well as proteomics.

Increased RNA and Protein Degradation Is Required for Counteracting Transcriptional Burden and Proteotoxic Stress in Human Aneuploid Cells.

Aneuploidy results in a stoichiometric imbalance of protein complexes that jeopardizes cellular fitness. Aneuploid cells thus need to compensate for the imbalanced DNA levels by regulating their RNA and protein levels, but the underlying molecular mechanisms remain unknown. In this study, we dissected multiple diploid versus aneuploid cell models.

Miller Fisher syndrome diagnosis and treatment in a patient with SARS-CoV-2.

This case report describes the clinical characteristics of a 50-year-old woman that developed SARS-CoV-2 pneumonia and was admitted at the COVID-19 dedicated unit where she developed neurological symptoms 10 days after admission. After neurological examination, including a panel of blood cerebrospinal fluid biomarkers, a diagnosis of Miller Fisher syndrome (MFS) was hypothesized and intravenous immunoglobulin therapy (IVIG) was initiated. Fourteen days after the start of IVIG treatment, the patient has been discharged at home with the resolution of respiratory symptoms and only minor hyporeflexia at the lower limbs, without any side effect.

Sex Differences in Proatherogenic Cytokine Levels.

Background: It has been shown that sex affects immunity, including cytokine production. Given that atherosclerosis is an inflammatory disease promoted by specific cytokines, such as interleukin (IL)-1β, IL-6, and tumor necrosis factor (TNF)-α, we aimed at evaluating whether sex could affect the levels of these proatherogenic cytokines in a group of healthy adults. In this analysis, we also included other cytokines and peptides that have been implicated in atherosclerosis development and progression.

Zoonotic disease awareness survey of backyard poultry and swine owners in southcentral Pennsylvania.

Owners of small backyard poultry and swine operations may be at higher risk of zoonotic diseases due to husbandry inexperience and/or a lack of knowledge. Backyard poultry and swine owners in southcentral Pennsylvania were surveyed regarding their knowledge and attitudes towards zoonotic disease prevention. One hundred and six backyard poultry and/or swine owners completed the survey (74 poultry, 15 swine, 17 both), which included questions on demographics, flock/herd characteristics, recognition of selected zoonotic diseases and clinical signs in animals, and biosecurity practices for visitors and owners.

Evidence of Powassan/deer tick virus in adult black-legged ticks (Ixodes scapularis) recovered from hunter-harvested white-tailed deer (Odocoileus virginianus) in Pennsylvania: A public health perspective.

Studies reporting tick infection rates for Powassan virus (POWV), an emerging zoonotic arthropod-borne pathogen responsible for POWV disease in the Commonwealth of Pennsylvania, are limited. To determine the presence and ascertain a statewide prevalence of POWV, ticks were collected from 9,912 hunter-harvested white-tailed deer (Odocoileus virginianus) heads presented to six regional Pennsylvania Game Commission Chronic Wasting Disease sampling stations in early December of 2013, 2014 and 2015. Of the 2,973 ticks recovered, 1,990 (66.

Pet-associated Campylobacteriosis: A persisting public health concern.

Campylobacter is regarded as a leading cause of human bacterial gastroenteritis in the United States. We report on a case of laboratory-confirmed Campylobacter jejuni infection in the Commonwealth of Pennsylvania among members of a household living with a laboratory-confirmed but non-speciated Campylobacter-infected puppy. We describe an outbreak of likely dog-associated campylobacteriosis, the risk factors, potential routes of exposure and the clinical features in the exposed family members, which began shortly after exposure to the recently purchased dog.

Cardiac resynchronization therapy guided by multimodality cardiac imaging.

Aims: Up to 30-45% of implanted patients are non-responders to CRT. We evaluated the role of a 'CRT team' using cardiac magnetic resonance (CMR) and longitudinal myocardial strain to identify the target area defined as the most delayed and viable region for LV pacing.

Methods And Results: A total of 100 heart failure patients candidates for CRT divided into two groups were enrolled.

A Systematic Review of Human Bat Rabies Virus Variant Cases: Evaluating Unprotected Physical Contact with Claws and Teeth in Support of Accurate Risk Assessments.

In the United States and Canada, the most recent documented cases of rabies have been attributed to bat rabies viruses (RABV). We undertook this systematic review in an effort to summarize and enhance understanding of the risk of infection for individuals who have been potentially exposed to a suspect or confirmed rabid bat. United States rabies surveillance summaries documented a total of 41 human bat-rabies virus variant verified non-transplant cases between 1990 and 2015.

Human Brucella canis Infection and Subsequent Laboratory Exposures Associated with a Puppy, New York City, 2012.

Human Brucella canis infection incidence is unknown. Most identified cases are associated with pet dogs. Laboratory-acquired infections can occur following contact with Brucella spp.

Recurrent temporary paralysis reported after human rabies post-exposure prophylaxis.

Adverse events can occur after rabies post-exposure prophylaxis (PEP), and linkage to causality is often difficult to determine. We report a case of recurrent temporary paralysis that began immediately after the initiation of rabies PEP in a man exposed to a bat. The recurrent temporary paralysis first occurred in the patient after his initial dose and then again after day 3 of his rabies PEP.

Human exposure to rabid free-ranging cats: a continuing public health concern in Pennsylvania.

Rabid free-ranging cats have been a public health concern in Pennsylvania since raccoon variant rabies first was recognized in the state in the early 1980s. Over the last decade, between 1.5 and 2.

Concurrent 2009 pandemic influenza A (H1N1) virus infection in ferrets and in a community in Pennsylvania.

We report a fall 2010 cluster of pandemic influenza A/H1N1 (pH1N1) infections in pet ferrets in Lehigh Valley region of Pennsylvania. The ferrets were associated with one pet shop. The influenza cluster occurred during a period when the existing human surveillance systems had identified little to no pH1N1 in humans in the Lehigh Valley, and there were no routine influenza surveillance systems for exotic pets.

Fatal pandemic (H1N1) 2009 influenza A virus infection in a Pennsylvania domestic cat.

We report the earliest recognized fatality associated with laboratory-confirmed pandemic H1N1 (pH1N1) influenza in a domestic cat in the United States. The 12-year old, indoor cat died on 6 November 2009 after exposure to multiple family members who had been ill with influenza-like illness during the peak period of the fall wave of pH1N1 in Pennsylvania during late October 2009. The clinical presentation, history, radiographic, laboratory and necropsy findings are presented to assist veterinary care providers in understanding the features of this disease in cats and the potential for transmission of infection to pets from infected humans.

Are Hodgkin and non-Hodgkin patients at a greater risk of atherosclerosis? A follow-up of 3 years.

Aims and background are to ascertain whether Hodgkin and non-Hodgkin patients are more affected by atherosclerotic process. We studied 96 patients during a period of 3 years (2003-2007). Patients were assessed in the first year soon after receiving radiotherapy and chemotherapy and then reassessed in the third year.

Endothelial dysfunction in haemophilia patients.

Haemophilia patients may develop cardiovascular diseases, suggesting that their clotting defect does not protect them completely from atherosclerosis and its complications. We aimed to evaluate cardiovascular risk factors and, for the first time, the presence of endothelial dysfunction in middle-aged haemophilia patients. We studied 40 patients with haemophilia A and B (24 with moderate-severe disease and 16 with mild disease), and 40 healthy controls.

Carotid and femoral atherosclerosis in chronic hepatitis C: a 5-year follow-up.

The objective of this study was to assess the progression of atherosclerosis in carotid and femoral arteries after a 5-year period using ultrasound in subjects with chronic hepatitis C and in controls matched for classic atherosclerotic risk factors. A total of 40 patients and 40 controls were assessed by echocolor Doppler in 2001 and in 2006 to evaluate plaque and intima-media thickness. The patients showed no changes in plaque and intima-media thickness during the 5-year period in all districts examined, whereas a significant increase in intima-media thickness in the carotid sections was recorded in the controls.

Flow-mediated arterial dilation in primary antiphospholipid syndrome.

Objective: To investigate precocious alterations in the artery wall of patients with primary antiphospholipid syndrome (APS).

Methods: We evaluated flow-mediated dilation (FMD) of the brachial artery and intima-media thickness (IMT) of carotid arteries in 16 patients and 16 healthy controls matched for age, gender, and other cardiovascular risk factors.

Results: FMD of the brachial artery was significantly lower in patients than in controls (6.

Type IIb von Willebrand disease: role of qualitative defects in atherosclerosis and endothelial dysfunction.

Objective: To verify whether a hereditary bleeding tendency, such as von Willebrand disease (vWD) type IIB, protects against the onset of atherosclerosis.

Participants And Methods: Twenty-four patients with vWD type IIB and 24 healthy controls, matched for common atherosclerotic risk factors. All patients were evaluated by color Doppler ultrasound of the common carotid, carotid bifurcation, common femoral artery, brachial artery, and abdominal aorta, investigating intima-media thickness (IMT) and presence of plaques in each arterial district.

Outbreak of rabbit hemorrhagic disease in domestic lagomorphs.

Rabbit hemorrhagic disease (RHD) was diagnosed in domestic lagomorphs on a rabbit farm in Illinois. Clinical signs of RHD in affected rabbits included signs of depression, anorexia, fever, paddling, convulsions, and sudden death. Findings of necropsies and histologic evaluations of specimens of liver and spleen were indicative of RHD.

Antimicrobial residues in animal waste and water resources proximal to large-scale swine and poultry feeding operations.

Expansion and intensification of large-scale animal feeding operations (AFOs) in the United States has resulted in concern about environmental contamination and its potential public health impacts. The objective of this investigation was to obtain background data on a broad profile of antimicrobial residues in animal wastes and surface water and groundwater proximal to large-scale swine and poultry operations. The samples were measured for antimicrobial compounds using both radioimmunoassay and liquid chromatography/electrospray ionization-mass spectrometry (LC/ESI-MS) techniques.