The mixed problem for the Lam\'e system in two dimensions

We consider the mixed problem for $L$ the Lam\'e system of elasticity in a bounded Lipschitz domain $\Omega\subset\reals ^2$. We suppose that the boundary is written as the union of two disjoint sets, $\partial\Omega =D\cup N$. We take traction data from the space $L^p(N)$ and Dirichlet data from a Sobolev space $W^{1,p}(D)$ and look for a solution $u$ of $Lu =0$ with the given boundary conditions. We give a scale invariant condition on $D$ and find an exponent $p_0 >1$ so that for $1<p<p_0$, we have a unique solution of this boundary value problem with the non-tangential maximal function of the gradient of the solution in $L^ p(\partial\Omega)$. We also establish the existence of a unique solution when the data is taken from Hardy spaces and Hardy-Sobolev spaces with $p$ in $(p_1,1]$ for some $p_1 <1$

The Human Phenotype Ontology in 2024: phenotypes around the world

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Global overview of the management of acute cholecystitis during the COVID-19 pandemic (CHOLECOVID study)

Background: This study provides a global overview of the management of patients with acute cholecystitis during the initial phase of the COVID-19 pandemic. Methods: CHOLECOVID is an international, multicentre, observational comparative study of patients admitted to hospital with acute cholecystitis during the COVID-19 pandemic. Data on management were collected for a 2-month study interval coincident with the WHO declaration of the SARS-CoV-2 pandemic and compared with an equivalent pre-pandemic time interval. Mediation analysis examined the influence of SARS-COV-2 infection on 30-day mortality. Results: This study collected data on 9783 patients with acute cholecystitis admitted to 247 hospitals across the world. The pandemic was associated with reduced availability of surgical workforce and operating facilities globally, a significant shift to worse severity of disease, and increased use of conservative management. There was a reduction (both absolute and proportionate) in the number of patients undergoing cholecystectomy from 3095 patients (56.2 per cent) pre-pandemic to 1998 patients (46.2 per cent) during the pandemic but there was no difference in 30-day all-cause mortality after cholecystectomy comparing the pre-pandemic interval with the pandemic (13 patients (0.4 per cent) pre-pandemic to 13 patients (0.6 per cent) pandemic; P = 0.355). In mediation analysis, an admission with acute cholecystitis during the pandemic was associated with a non-significant increased risk of death (OR 1.29, 95 per cent c.i. 0.93 to 1.79, P = 0.121). Conclusion: CHOLECOVID provides a unique overview of the treatment of patients with cholecystitis across the globe during the first months of the SARS-CoV-2 pandemic. The study highlights the need for system resilience in retention of elective surgical activity. Cholecystectomy was associated with a low risk of mortality and deferral of treatment results in an increase in avoidable morbidity that represents the non-COVID cost of this pandemic

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

A novel de novo TBX5&nbsp;mutation in a patient with Holt-Oram syndrome

Lady J R&iacute;os-Serna,1 Lorena D&iacute;az-Ordo&ntilde;ez,1 Estephania Candelo,1,2 Harry Pachajoa1,3 1Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia; 2Biomaterial and Tissues Engineering and Genetic of Human Diseases, University College London, London, UK; 3Fundaci&oacute;n Valle del Lili, Cali, Valle del Cauca, Colombia Abstract: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communication associated with hip dysplasia and upper limb reduction composed of radial ray anomaly. A novel de novo, potentially pathogenic variant in the TBX5 gene at NM_181486.2:c.243-1G&gt;C was identified. Keywords: Holt-Oram syndrome, heart-hand syndrome, de novo mutation, TBX5.i&gt

Syndromic intellectual disability and developmental delay caused by novel de novo truncating variant in AHDC1 gene

Introduction: Xia-Gibbs syndrome is a rare genetic disorder with autosomal dominant inheritance caused by heterozygous mutations in AHDC1 gene. This condition is characterized by neurological manifestations that include psychomotor delayed, intellectual disability and corpus callosum hypoplasia with distinct facial features. Case report: We present a 13 years-old female from Colombia, born to non-consanguineous parents. She was diagnosed at age of 2 years for psychomotor and language delay, facial dysmorphic features and sleep apnea with plagiocephaly. She has associated behavioral disorders that include self-harm, poor social interaction with isolation. Results: Chromosome analysis was normal (Kariotyping and CGH-array). WES (Whole Exome Sequencing) was performed at 12 years and revealed a novel heterozygous de novo frameshift variant c.1529delG (p.Gly510Alafs*12) in AHDC1 gene (NM_001029882.3), variant functional prediction software tools Mutation tester, Polyphen-2, and SIFT classified it as a deleterious variant. Discussion: The mutation reported here introduces a stop codon at the amino acid 522 of AHDC1 protein (1603 amino acids). This leads to the loss of one DNA-binding motif and PDZ carboxyl-terminal domain, which could truncate its interaction with other proteins and can be related to the neurobehavioural manifestations in our patient.Introducción: El síndrome de Xia-Gibbs es un trastorno genético raro con herencia autosómica dominante causado por mutaciones heterocigóticas en el gen AHDC1. Esta condición se caracteriza por manifestaciones neurológicas que incluyen retraso psicomotor, discapacidad intelectual e hipoplasia del cuerpo calloso con rasgos faciales distintivos. Caso clínico: Presentamos el caso de una mujer colombiana de 13 años, nacida de padres no consanguíneos. Fue diagnosticada a los 2 años de edad por retraso psicomotor y del lenguaje, rasgos dismórficos faciales y apnea del sueño con plagiocefalia. Tiene trastornos conductuales asociados que incluyen autolesiones, mala interacción social con aislamiento. Resultados: El análisis cromosómico fue normal (Kariotyping y CGH-array). WES (Whole Exome Sequencing) se realizó a los 12 años y reveló una nueva variante heterocigótica de cambio de marco de novo c.1529delG (p.Gly510Alafs*12) en el gen AHDC1 (NM_001029882.3), herramientas de software de predicción funcional variante Probador de mutación, Polyphen-2 , y SIFT lo clasificó como una variante deletérea. Discusión: La mutación reportada aquí introduce un codón de terminación en el aminoácido 522 de la proteína AHDC1 (1603 aminoácidos). Esto conduce a la pérdida de un motivo de unión al ADN y del dominio carboxilo terminal de la PDZ, lo que podría truncar su interacción con otras proteínas y puede estar relacionado con las manifestaciones neuroconductuales de nuestro paciente

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis

Sara Vanegas,1 Luz Fernanda Sua,2 Jaime L&oacute;pez-Tenorio,3 Diana Ram&iacute;rez-Monta&ntilde;o,1 Harry Pachajoa1,4 1Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia; 2Department of Pathology and Laboratory Medicine, Fundaci&oacute;n Valle del Lili, Cali, Colombia; 3Department of Obstetrics and Perinatology, Fundaci&oacute;n Valle del Lili, Cali, Colombia; 4Department of Pediatric Medical Genetics, Fundaci&oacute;n Valle del Lili, Cali, Colombia Background: Achondrogenesis type IA (ACG1A) is a rare, lethal autosomal recessive chondrodysplasia affecting endochondral bone ossification and differentiation, causing intrauterine growth restriction, narrow thorax, and short limbs. Mutations in TRIP11, which encodes Golgi microtubule-binding protein 210 in the Golgi apparatus, alter protein transport in tissues. Case presentation: A 28-week gestation male fetus was diagnosed with ACG1A by clinical, radiological, histologic, and molecular findings. Results: Whole exome sequencing was performed on fetal DNA and parental blood. Two fetal heterozygous novel variants of TRIP11, c.2304_2307delTCAA (p.Asn768Lysfs*7) and c.2128_2129delAT (p.lle710Cysfs*19), were inherited from the mother and father, respectively. Both variants created a reading frameshift leading to a premature stop codon and loss of protein function. Conclusion: To our knowledge, this is the first Latin American report with clinical, radiographic, and molecular diagnosis of ACG1A. Clinical and molecular diagnosis in utero is essential for genotype&ndash;phenotype correlation and is useful for providing better genetic counseling. Keywords: achondrogenesis type IA, endochondral bone, TRIP11, GMAP-21

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]

Pachajoa H, L&oacute;pez-Quintero W, Vanegas S, Montoya CL, Ram&iacute;rez-Monta&ntilde;o D. The Application of Clinical Genetics. 2018;11:15&ndash;21.In the main title (page 15) and in the first column, third row of Table 1 (page 17), the gene name ABBC9 should be ABCC9.Read the original article