Clinical, magnetic resonance imaging, and histopathologic features of a hypoglossal malignant peripheral nerve sheath tumor in a maltese dog

Malignant tumours arising from peripheral nerves or displaying differentiation along the lines of the various elements of the nerve sheath are collectively referred to as MPNSTs. Histologically, in human MPNST, the malignant nature of these tumours is associated with an infiltrative and cellular proliferation of atypical, mitotically active spindle cells. Their predilection for sites varies with the species. In dogs the most common site for MPNST is the nerve roots or nerves of the brachial plexus, while the cranial nerve more frequently involved is the trigeminal nerve. In humans, hypoglossal peripheral nerve sheath tumours are rare, only few cases are described in literature; and the malignant forms are even exceptional. Fifty per cent of cases displayed both an intra- and extracrania component, and are referred as dumbbell-shaped tumours. To our knowledge this is the first case report an hypoglossal MPNST in a dog. In our case the tumour was dumbbell-shaped, with both intra-and extracranial components and associated with characteristic clinical signs of hypoglossal tumour. The malignant histological appearance of the lesion occurred without infiltrative growth

Clinical, magnetic resonance imaging, and histopathologic features of hypothalamic neuronal hamartoma in a young vizsla

Hypothalamic hamartomas (HH) are rare, tumor-like malformations thatoccurduring fetal development and are present at birth. They differ from neoplasms since they are not autonomous and they grow in proportion to normal brain growth, and consequently their relative size to the rest of the brain is the same for the lifetime of the patient. Hamartomas are non-progressive lesions and do not expand, spread or metastasize to other locations. In canine nervous system, vascular, neuronal and peripheral nerve fibers hamartomas have been described; to our knowledge, this is the first report describing the MRI features of a hypothalamic neuronal hamartoma in a dog

A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle

Hemifacial microsomia (HFM) was diagnosed in a 9-day-old Romagnola calf. The condition was characterized by microtia of the left ear, anotia of the right ear, asymmetry of the face, and deafness. Magnetic resonance imaging revealed agenesis of the right pinna and both tympanic bullae, asymmetry of the temporal bones and temporomandibular joints, and right pontine meningocele. Brainstem auditory evoked responses confirmed the impaired auditory capacity. At gross post mortem examination, there was agenesis and hypoplasia of the right and the left external ear, respectively. No histological abnormalities were detected in the inner ears. A trio whole-genome sequencing approach was carried out and identified a private homozygous missense variant in LAMB1 affecting a conserved residue (p.Arg668Cys). Genotyping of 221 Romagnola bulls revealed a carrier prevalence <2%. This represents a report of a LAMB1-related autosomal recessive inherited disorder in domestic animals and adds LAMB1 to the candidate genes for HFM

Case Report Uveal Hematocysts in a Golden Retriever Dog

Case Description. A 7-year-old neutered male golden retriever presented for examination 1 month following the observation of multifocal round brown structures in the anterior chamber of the left eye and similar, but blood-filled, structures in the right eye. Clinical Findings. Ophthalmic examination revealed bilateral iris hyperpigmentation, pigment deposition on the anterior lens capsule, and uveal cysts. The uveal cysts in the right eye were partially blood filled. Clinical findings were consistent with pigmentary uveitis of golden retrievers. Treatment and Outcome. The patient has been maintained on topical anti-inflammatories and no progression of the disease has occurred in eight months. Clinical Relevance. This paper emphasizes the importance of recognizing the unique clinical signs of pigmentary uveitis and highlights uveal hematocysts, a rare manifestation of the disease. Case Description A 7-year-old neutered male golden retriever dog presented to the Iowa State University Lloyd Veterinary Medical Center for ophthalmic examination 1 month following identification of multifocal brown structures in the anterior chamber of the left eye and similar, but blood-filled, structures in the right eye. The primary care veterinarian discovered these structures during annual wellness examination. Ophthalmic examination revealed normal palpebral, dazzle, and pupillary light reflexes in both eyes. Vision was considered normal based on positive menace responses and appropriate navigation in the hospital environment. On careful inspection, both eyes had mild conjunctival hyperemia, diffuse iris hyperpigmentation, pigment deposition on the anterior lens capsule, and numerous uveal cysts in the anterior chamber. The uveal cysts in the right eye were blood filled Dilation of the left pupil occurred within 20 minutes of tropicamide 1% application; however, dilation of the right pupil was limited by the posterior synechia. Indirect ophthalmoscopy revealed no abnormalities of the fundus in either eye. Complete physical examination was unremarkable, with the exception of a body condition score of 6/9. Notably, cardiovascular parameters were normal and no petechiation, ecchymosis, or bruising was identified. Complete blood count, serum biochemistry panel, and thyroid panel were within normal limits. The patient's clinical signs were considered consistent with pigmentary uveitis of golden retrievers, and prednisolone acetate 1% and tropicamide 1% were each prescribed for use in both eyes once daily. Reevaluation of the eyes 2 weeks later revealed resolution of the conjunctival hyperemia in both eyes and rupture of one blood-filled cyst in the right eye, resulting in a 2 mm corneal endothelial opacity. Intraocular pressures were 6 and 9 mmHg in the left and right eye, respectively. Ophthalmic examination was otherwise unchanged and no adjustments to the medication regimen were made. At the time of publication, treatment has successfully controlled clinical progression of the disease for the preceding eight months. Reevaluations are recommended every 3-6 months to monitor for progression of pigmentary uveitis and development of sequelae

Trajectories of Delinquency and Parenting Styles

We investigated trajectories of adolescent delinquent development using data from the Pittsburgh Youth Study and examined the extent to which these different trajectories are differentially predicted by childhood parenting styles. Based on self-reported and official delinquency seriousness, covering ages 10–19, we identified five distinct delinquency trajectories differing in both level and change in seriousness over time: a nondelinquent, minor persisting, moderate desisting, serious persisting, and serious desisting trajectory. More serious delinquents tended to more frequently engage in delinquency, and to report a higher proportion of theft. Proportionally, serious persistent delinquents were the most violent of all trajectory groups. Using cluster analysis we identified three parenting styles: authoritative, authoritarian (moderately supportive), and neglectful (punishing). Controlling for demographic characteristics and childhood delinquency, neglectful parenting was more frequent in moderate desisters, serious persisters, and serious desisters, suggesting that parenting styles differentiate non- or minor delinquents from more serious delinquents

Implementation research of a cluster randomized trial evaluating the implementation and effectiveness of intermittent preventive treatment for malaria using dihydroartemisinin-piperaquine on reducing malaria burden in school-aged children in Tanzania: methodology, challenges, and mitigation

BACKGROUND: It has been more than 20 years since the malaria epidemiologic shift to school-aged children was noted. In the meantime, school-aged children (5-15 years) have become increasingly more vulnerable with asymptomatic malaria prevalence reaching up to 70%, making them reservoirs for subsequent transmission of malaria in the endemic communities. Intermittent Preventive Treatment of malaria in schoolchildren (IPTsc) has proven to be an effective tool to shrink this reservoir. As of 3(rd) June 2022, the World Health Organization recommends IPTsc in moderate and high endemic areas. Even so, for decision-makers, the adoption of scientific research recommendations has been stifled by real-world implementation challenges. This study presents methodology, challenges faced, and mitigations used in the evaluation of the implementation of IPTsc using dihydroartemisinin-piperaquine (DP) in three councils (Handeni District Council (DC), Handeni Town Council (TC) and Kilindi DC) of Tanga Region, Tanzania so as to understand the operational feasibility and effectiveness of IPTsc on malaria parasitaemia and clinical malaria incidence. METHODS: The study deployed an effectiveness-implementation hybrid design to assess feasibility and effectiveness of IPTsc using DP, the interventional drug, against standard of care (control). Wards in the three study councils were the randomization unit (clusters). Each ward was randomized to implement IPTsc or not (control). In all wards in the IPTsc arm, DP was given to schoolchildren three times a year in four-month intervals. In each council, 24 randomly selected wards (12 per study arm, one school per ward) were chosen as representatives for intervention impact evaluation. Mixed design methods were used to assess the feasibility and acceptability of implementing IPTsc as part of a more comprehensive health package for schoolchildren. The study reimagined an existing school health programme for Neglected Tropical Diseases (NTD) control include IPTsc implementation. RESULTS: The study shows IPTsc can feasibly be implemented by integrating it into existing school health and education systems, paving the way for sustainable programme adoption in a cost-effective manner. CONCLUSIONS: Through this article other interested countries may realise a feasible plan for IPTsc implementation. Mitigation to any challenge can be customized based on local circumstances without jeopardising the gains expected from an IPTsc programme. Trial registration clinicaltrials.gov, NCT04245033. Registered 28 January 2020, https://clinicaltrials.gov/ct2/show/NCT04245033

Ethnic differences in the mother-son relationship of incarcerated and non-incarcerated male adolescents in the Netherlands

<p>Abstract</p> <p>Background</p> <p>In the Netherlands, youths of Moroccan origin account for a disproportionately large percentage of the population in juvenile justice institutions. Previous research showed that Moroccan adolescents in pre-trial arrest are characterized by less serious offending behavior (i.e., primarily property-based) and lower levels of mental health problems than native Dutch adolescents in pre-trial arrest. To date, little is known about the parent-child relationship of these adolescents. This study examines the mother-son relationships of Moroccan and native Dutch delinquent adolescents and their association with adolescent delinquency.</p> <p>Methods</p> <p>In the present study, differences in the mother-son relationship characteristics between families of incarcerated <it>(N = 129) </it>and non-incarcerated <it>(N = 324) </it>adolescents were examined, and it was analyzed if these differences between incarcerated and non-incarcerated adolescents were the same for Moroccans and native Dutch. Data collection for the incarcerated sample took place from 2006 to 2008. Comparison data were used of interviews conducted with mothers originating from former larger studies in the general Dutch population. Latent Class Analysis was performed in order to identify types of mother-son relationship. Logistic regression analyses were used to identify the relationships between mother-son relationship types, incarceration and ethnicity.</p> <p>Results</p> <p>A three class model of mother-son relationship types was found: a low-conflict mother-son relationship type, a high-conflict mother-son relationship type, and a neglectful mother-son relationship type. Compared to the native Dutch adolescents, Moroccans (both in the incarcerated and non-incarcerated population) more often showed a neglectful mother-son relationship type. For Moroccans, no differences in mother-son relationship types were found between the incarcerated and non-incarcerated adolescents, whereas considerable differences occurred between the native Dutch incarcerated and non-incarcerated adolescents.</p> <p>Conclusions</p> <p>Our findings indicate that mother-son relationship types of incarcerated Moroccan adolescents and non-incarcerated Moroccan adolescents are rather comparable. These findings are in line with previous studies which revealed the less problematic profile of Moroccan adolescents in pre-trial arrest in the Netherlands compared to native Dutch adolescents in pre-trial arrest.</p

Typologies of post-divorce coparenting and parental well-being, parenting quality and children’s psychological adjustment

First published online: 30 October 2015The aim of this study was to identify post-divorce coparenting profiles and examine whether these profiles differentiate between levels of parents’ well-being, parenting practices, and children’s psychological problems. Cluster analysis was conducted with Portuguese heterosexual divorced parents (N = 314) to yield distinct postdivorce coparenting patterns. Clusters were based on parents’ self-reported coparenting relationship assessed along four dimensions: agreement, exposure to conflict, undermining/support, and division of labor. A three cluster solution was found and replicated. Parents in the highconflict coparenting group exhibited significantly lower life satisfaction, as well as significantly higher divorce-related negative affect and inconsistent parenting than parents in undermining and cooperative coparenting clusters. The cooperative coparenting group reported higher levels of positive family functioning and lower externalizing and internalizing problems in their children. These results suggested that a positive coparenting alliance may be a protective factor for individual and family outcomes after parental divorce

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype with GTPBP2 and characterize the overall spectrum of GTP-binding protein (1/2)-related disorders. In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. To assess the functional impact of the identified genetic variants, semi-quantitative PCR, western blot, and ribosome profiling assays were performed in fibroblasts from affected individuals. We also investigated the effect of reducing expression of CG2017, an ortholog of human GTPBP1/2, in the fruit fly Drosophila melanogaster. Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Cell line studies identified a loss-of-function (LoF) impact of the disease-associated variants but no significant abnormalities on ribosome profiling. Reduced expression of CG2017 isoforms was associated with locomotor impairment in Drosophila. In conclusion, bi-allelic GTPBP1 and GTPBP2 LoF variants cause an identical, distinct neurodevelopmental syndrome. Mutant CG2017 knockout flies display motor impairment, highlighting the conserved role for GTP-binding proteins in CNS development across species