Publications by authors named "Hopper B"

Article Synopsis
  • - A patient with Kallmann syndrome (KS) and intellectual disability (ID) was found to have a significant deletion in a specific region of chromosome 12, suggesting that this deletion may be responsible for their conditions rather than the patient's translocation.
  • - The research team screened 48 KS patients for mutations at the translocation breakpoints but found none, further supporting the idea that the 12p11.21-12p11.23 deletion is key to the patient's symptoms.
  • - Through an analysis of various candidate genes and their expression in relevant tissues, several potential genes linked to KS and ID were identified, including TSPAN11 for KS and others like TM7SF3 and STK38L for neurodevelopment
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Article Synopsis
  • Scientists found a genetic change in a person with Kallmann syndrome (KS) and intellectual disability (ID) that might be causing these issues.
  • They discovered a missing part of the DNA on chromosome 12, which could be linked to KS and ID instead of the original genetic changes they were studying.
  • Researchers identified several genes that might be responsible for KS and ID and suggest that more testing is needed to confirm how these genes affect patients.
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Background: The objectives of the study were to determine the prevalence of underlying conditions causing pleural effusion in cats and to calculate the positive predictive values, negative predictive values, sensitivity and specificity of radiographic signs to predict aetiology of the pleural fluid.

Methods: Data from 148 cats with pleural effusion and diagnosed with known aetiologies were retrospectively analysed. Sixty one cats had thoracic radiographs evaluated by consensus through pre-defined radiographic signs by two radiologists blinded to the diagnoses.

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Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).

Methods: A total of 74 families with diverse monogenic conditions (31% prenatal-congenital onset, 47% early childhood, and 22% teenage-adult onset) were triaged into PCR-based RNA testing, with comparative RNA sequencing for 19 cases.

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Interfacial regions are unique chemical reaction environments that can promote chemistry not found elsewhere. The air-water interface is ubiquitous in the natural environment in the form of ocean surfaces and aqueous atmospheric aerosols. Here we investigate the chemistry and photochemistry of pyruvic acid (PA), a common environmental species, at the air-water interface and compare it to its aqueous bulk chemistry using two different experimental setups: (1) a Langmuir-Blodgett trough, which models natural water surfaces and provides a direct comparison between the two reaction environments, and (2) an atmospheric simulation chamber (CESAM) to monitor the chemical processing of nebulized aqueous PA droplets.

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Recent evidence has revealed that exposing cells to exogenous H 2 S or inhibiting cellular H 2 S synthesis can modulate cell cycle checkpoints, DNA damage and repair, and the expression of proteins involved in the maintenance of genomic stability, all suggesting that H 2 S plays an important role in the DNA damage response (DDR). Here we review the role of H 2 S in the DRR and maintenance of genomic stability. Treatment of various cell types with pharmacologic H 2 S donors or cellular H 2 S synthesis inhibitors modulate the G 1 checkpoint, inhibition of DNA synthesis, and cause p21, and p53 induction.

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Purpose: Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of the clinical phenotype has not been reported.

Methods: We obtained data for patients with KAT6A pathogenic variants through three sources: treating clinicians, an online family survey distributed through social media, and a literature review.

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Context: Full-term pregnancy is associated with a transient increase and life-time decrease in maternal breast cancer risk. Estrone (E1), estradiol (E2), and estriol (E3) are in high concentration during the third trimester. E1 and E2 metabolism produces carcinogenic intermediaries, and E3 metabolism does not.

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Background: A detailed description of the natural history of acute Q fever, caused by infection with Coxiella burnetii, AIM: : To significantly increase understanding of the illness.

Design: Subjects with provisional acute Q fever (n = 115) were recruited from primary care in rural Australia, and followed prospectively by interview and blood collection including for serological confirmation. A nested series of subjects with prolonged illness (cases), and those without (controls), were investigated in detail.

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Premise: The epidemiological data from many countries indicates a global increase in dental caries in children and adults. The purpose of this study was to determine if children in a school setting would accept an after lunch brushing program and if such program would be effective in reducing plaque.

Study Setting: A small school of 300 students in Eastern Tennessee was selected to participate of which 200 elected to brush after lunch for 30 school days.

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Telegenetics is a new development in the service delivery of Genetic Services in Australia. This project was designed to establish if it was an acceptable alternative to a face-to-face consultation in the genetic assessment of intellectual disability, including morphological assessment, of the patient. Ten children from two outreach clinics in rural NSW who were referred by their pediatrician were assessed by a single geneticist via telehealth and then seen again face-to-face as a 'gold standard'.

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The study examined the timing of modulation of activator protein 1(AP-1):DNA binding and production of AP-1 constituent proteins by ultraviolet B (UVB) radiation and effect of dietary energy restriction [DER, 40% calorie reduction from fat and carbohydrate compared to control ad libitum (AL) diet] in SKH-1 mouse epidermis. AP-1:DNA binding by electromobility shift assay (EMSA) was increased in a biphasic manner after treatment with a tumor-promoting suberythemal dose (750 mJ/cm(2)) of UVB light (311-313 nm) with peaks at 3 and 18 h postirradiation. DER overall reduced AP-1:DNA binding in mock-treated and UVB-treated skin at 3 and 18 h after UVB treatment.

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A five-month-old female Jack Russell terrier was presented for investigation of acute lethargy, anorexia, coughing, respiratory distress and weakness. Examination findings included cyanosis, a grade 3 of 6 systolic heart murmur and prolonged capillary refill time. Radiography and echocardiography revealed severe pulmonary hypertension, cor pulmonale and right-sided heart failure.

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Generalised paresis, severe hypokalaemia and kaliuresis, metabolic alkalosis and hypertension, characteristic of mineralocorticoid excess, were identified in a dog with hyperadrenocorticism due to a functional adrenocortical carcinoma. Aldosterone concentration was decreased and deoxycorticosterone concentration increased in the presence of hypokalaemia. These metabolic abnormalities resolved with resection of the carcinoma.

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Different sonographic criteria have been developed to estimate canine fetal age, including fetal mensuration and assessment of fetal organ development. This retrospective study assessed the accuracy of gestational age and litter size predictions in 76 bitches using one of two techniques. The first method used the differential features of fetal organ development that occur in early and mid pregnancy, based on published tables for beagles.

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A 4-year-old Arab mare was diagnosed with disseminated cryptococcosis, including osteomyelitis of the proximal phalanx of the left hind limb, osteomyelitis with associated soft tissue granuloma of a rib and disseminated, large cryptococcal nodules in the lungs. The lesion in the dorsoproximal aspect of the proximal phalanx had a large area of cortical lysis with spiculated periosteal new bone and extensive soft tissue swelling. The affected rib had a pathological fracture.

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Reasons For Performing Study: Lameness related to the middle carpal joint (MCJ) occurs in up to 30% of young Standardbred horses in race training and the incidence increase with radiographic severity of third carpal bone (C3) sclerosis on DPr-DDIO (skyline) view of the carpus. Factors predisposing horses to carpal injury have not been well investigated.

Objectives: To determine the importance of MCJ lameness as a cause of wastage in young Standardbred racehorses, stage of training at which it occurs and predisposing factors, and to describe clinical findings and diagnosis.

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Shoulder problems are extremely common reasons for visiting a primary care physician. To make a correct diagnosis, an appropriate physical examination must be performed. This article describes a systematic approach to the physical examination, correlating the various maneuvers and tests with the anatomy and pathology of the shoulder.

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Plant material foreign bodies may cause vague clinical signs at the time of initial presentation but can progress to cause persistent or recurrent abscessation, sinus tract formation and debilitating disease, due to migration of the foreign body, severe tissue reaction and secondary infection. Ultrasonography is a non-invasive technique that can be used to identify precisely the presence, location and size of radiolucent foreign bodies. Early identification of foreign bodies using ultrasonography facilitates surgical retrieval before further migration and tissue injury occur.

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Reasons For Performing Study: Sclerosis of the third carpal bone is a common radiographic finding in both lame and sound racehorses, but there are no guidelines correlating degree of sclerosis and incidence of lameness.

Objectives: To develop a protocol for describing subchondral bone sclerosis in C3 on dorsoproximal-dorsodistal oblique (DPr-DDiO) radiographs of the carpus and to correlate these changes with exercise history and carpal lameness.

Methods: One hundred and six Standardbreds entering their first year of training (exercise group) and 7 age-matched Standardbreds at pasture (controls) were examined at approximately 3 month intervals over 12-18 months.

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The clinical, radiographic and echocardiographic features of two cases of pulmonic stenosis in cats are presented. A rarely reported combination of pulmonic stenosis and tricuspid valve dysplasia is described.

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A 1-year-old working Kelpie developed pneumothorax and focal peritonitis after inhalation of a grass awn that migrated from the lung, through the diaphragm, into the peritoneal cavity. Radiographic evidence of sternal lymph node enlargement was fundamental in the diagnosis of intraperitoneal disease and prompted abdominal ultrasound leading to definitive diagnosis.

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