Strawberry fruit resistance to simulated handling

Harvest operations are currently the main source of mechanical injury of strawberry (Fragaria x ananassa Duch.). Experiments were designed to simulate conditions encountered during commercial handling. Individual fruits were subjected to impact or compression forces with similar energy to determine the sensitivity to mechanical injury. Bruise volume was used as the measurement of injury. Bruise severity increased as a function of impact energy for both impact types. However, dropped fruits had larger bruise volume than fruits submitted to pendulum impactor at the same energy level. Doubling the impact energy (0.040 to 0.083 J) increased bruise volume by 7 times (13 to 91 mm³). Fruits dropped from 380 mm (0.075 J) showed 71% greater bruise volume than those dropped from either 130 mm (0.025 J) or 200 mm (0.040 J). Compressed fruits showed higher bruise volume than other tests. Some cultivars are more susceptible to compression forces than others. 'Sweet Charlie' berries showed bruise volume 40% higher than the others cultivars when subjected to compression. Fruits subjected to impact showed bruise volume lower than the compressed fruits, indicating the possibility to be handled and graded in a packing line.A etapa de colheita é a principal fonte de danos físicos ao morango (Fragaria x ananassa Duch.). Experimentos foram realizados para simular condições encontradas durante manuseio. Frutos foram submetidos individualmente às forças de impacto e compressão em energias similares para determinar sensibilidade dos frutos a danos físicos. Volume da injúria física foi utilizado para mensurar a incidência do dano físico ocorrido. Severidade da lesão aumenta, com incremento da energia, tanto para força de impacto como para compressão. Todavia, frutos submetidos à queda livre demonstraram maiores volumes de danos físicos do que frutos submetidos a danos ocasionados por pendulo no mesmo nível de energia. Dobrando a energia de impacto (0,040 para 0,083 J) ocorreu aumento no volume da injúria em sete vezes (13 para 91 mm³). Frutos submetidos à queda de 380 mm (0,075 J) demonstraram volumes de danos físicos 71% superiores do que aqueles ocasionados em queda de 130 mm (0,025 J) ou 200 mm (0,040 J). Frutos em teste de compressão mostraram maiores volumes de injúrias físicas do que outros testes. Alguns cultivares são mais sensíveis à força de compressão do que outros. Frutos cultivar 'Sweet Charlie' apresentaram volume de injúria 40% superiores do que outros quando submetidos à força de compressão. Morangos submetidos à força de impacto demonstraram volume de injúria inferior do que aqueles comprimidos, indicando a possibilidade dos morangos serem classificados e manuseados em uma linha de beneficiamento

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

peer reviewedMany countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS. © 2021 The Author

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation. RNA sequencing on patient cells demonstrated up-regulated gene expression related to mitosis and cell division, and cellular assays confirmed an increased proliferative capacity. A zebrafish model showed craniofacial anomalies and a defect in Foxd3-derived glia. These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome

SATB2‐associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series without in‐depth phenotypic characterization or genotype‐phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals with a molecularly confirmed diagnosis of SAS were referred after clinical diagnostic testing. In this series we present the most comprehensive phenotypic and genotypic characterization of SAS to date, including prevalence of each clinical feature, neurodevelopmental milestones, and when available, patient management. We confirm that the most distinctive features are neurodevelopmental delay with invariably severely limited speech, abnormalities of the palate (cleft or high‐arched), dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. This comprehensive clinical characterization will help clinicians with the diagnosis, counseling and management of SAS and help provide families with anticipatory guidance

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Genetics of disease, diagnosis and treatmen

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking.METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents. Clinicians filled in a structured questionnaire on genetic and clinical findings to enable correlations between genotype and phenotype. Clinical photographs and specialist reports were gathered. Parents were interviewed to complement the written questionnaires.RESULTS: We report on the detailed clinical characterization of a large cohort of individuals with an ADNP mutation and demonstrate a distinctive combination of clinical features, including mild to severe intellectual disability, autism, severe speech and motor delay, and common facial characteristics. Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities. Strikingly, individuals with the recurrent p.Tyr719* mutation were more severely affected.CONCLUSIONS: This overview defines the full clinical spectrum of individuals with ADNP mutations, a specific autism subtype. We show that individuals with mutations in ADNP have many overlapping clinical features that are distinctive from those of other autism and/or intellectual disability syndromes. In addition, our data show preliminary evidence of a correlation between genotype and phenotype.Genetics of disease, diagnosis and treatmen

Histone H3.3 beyond cancer: Germline mutations in<em> Histone 3 Family 3A</em> and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation. RNA sequencing on patient cells demonstrated up-regulated gene expression related to mitosis and cell division, and cellular assays confirmed an increased proliferative capacity. A zebrafish model showed craniofacial anomalies and a defect in Foxd3-derived glia. These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation