Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous MLH1 missense variant (c.1918C>A p.(Pro640Thr)) in a Tunisian patient with CMMRD syndrome and a family history of early-age colorectal cancer. The proband presented initially with colonic oligopolyposis and adenosquamous carcinoma of the caecum. He later developed several malignancies, including undifferentiated carcinoma of the parotid, grade 4 IDH-mutant astrocytoma, and ampulla of Vater adenocarcinoma. The patient was older than typical for this disease and had a remarkably prolonged survival despite developing four distinct aggressive malignancies. The current report highlights the challenges in assessing the pathogenicity of the identified variant and the remarkable phenotypic diversity in CMMRD

Unbalanced space-time block codes for non uniform energy distribution multiple access channels

International audienc

Spatial coupling for distributed storage and diversity applications

Conference of 5th International Conference on Communications and Networking, COMNET 2015 ; Conference Date: 4 November 2015 Through 7 November 2015; Conference Code:123775International audienceLow-density parity-check codes are considered for erasure channels, mainly Root-LDPC codes that include a special type of checknodes. Spatial coupling is applied on parity bits of a Root-LDPC ensemble designed for a channel with 4 block-erasure states and a maximal design rate of 3/4 attaining double diversity. The advantage of spatial coupling is shown in the erasure plane as an improvement of a threshold boundary, under independent erasures. The spatial coupling maintains the double diversity because it connects parity bits only. The drawback of this partial coupling is a weak saturation of the threshold boundary towards the capacity boundary

The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum

International audienceAims: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis.Methods:Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. Results: Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. Conclusion: Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia. (C) 2013 S. Karger AG, Base

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous MLH1 missense variant (c.1918C>A p.(Pro640Thr)) in a Tunisian patient with CMMRD syndrome and a family history of early-age colorectal cancer. The proband presented initially with colonic oligopolyposis and adenosquamous carcinoma of the caecum. He later developed several malignancies, including undifferentiated carcinoma of the parotid, grade 4 IDH-mutant astrocytoma, and ampulla of Vater adenocarcinoma. The patient was older than typical for this disease and had a remarkably prolonged survival despite developing four distinct aggressive malignancies. The current report highlights the challenges in assessing the pathogenicity of the identified variant and the remarkable phenotypic diversity in CMMRD.Hereditary cancer genetic

Table_1_Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.docx

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous MLH1 missense variant (c.1918C>A p.(Pro640Thr)) in a Tunisian patient with CMMRD syndrome and a family history of early-age colorectal cancer. The proband presented initially with colonic oligopolyposis and adenosquamous carcinoma of the caecum. He later developed several malignancies, including undifferentiated carcinoma of the parotid, grade 4 IDH-mutant astrocytoma, and ampulla of Vater adenocarcinoma. The patient was older than typical for this disease and had a remarkably prolonged survival despite developing four distinct aggressive malignancies. The current report highlights the challenges in assessing the pathogenicity of the identified variant and the remarkable phenotypic diversity in CMMRD.</p

Deliverable D1 - Technical Report NF-PERSEUS 2023: Power-Efficient Radio interface for Sub-7GHz distributEd massive MIMO infrastrUctureS

This is deliverable D1 "Technical Report NF-PERSEUS 2023". This document provides an overview of the progress of the studies undertaken in NF-PERSEUS project and their progress by the end of 2023.Chapter 1 delves into the advantages of cell-free architectures and their pivotal role in shaping the future of 6G wireless networks. Cell-free architectures, which move away from the traditional cellular network model, offer several compelling benefits that make them a promising solution for the next generation of mobile communication.Chapter 2 describes the main use cases identified for the NF-PERSEUS project and their KPI, providing an inventory of use case specifications, representative deployment scenarios and technical requirements. It presents also the MAMIMOSA sounder which will be employed to perform massive MIMO channel measurments for the considered NF-PERSEUS scenarios.Chapter 3 examines and discusses relevant reference scenarios based on RIS. This analysis sheds light on the technical challenges involved and the potential performance that can be achieved.Chapter 4 provides an in-depth analysis of the performance metrics used to evaluate cell-free network architectures. It presents the studies and research activities undertaken within Work Package 3 (WP3) and summarizes the progress made by the end of 2023. It presents some potential PHY layer solutions studied in the framework of NF-PERSEUS project. These solutions comprise advanced precoding/combing schemes and multi-carrier waveforms which are adequate for cell-free architectures.Chapter 5 provides an overview of the progress of the studies undertaken in WP4 and their progress by the end of 2023. WP4 deals with radio resource management and aims at introducing novel multi-user access schemes and resource allocation algorithms dedicated to distributed antenna systems, with an emphasis on achieving power and spectrum efficient massive access in scalable B5G sub-7GHz networks.Chapter 6 presents an overview of electromagnetically consistent communication models for Reconfigurable Intelligent Surfaces (RISs). These models aim to describe the communication mechanisms and performance characteristics of RISs, which are emerging technologies that can dynamically control the propagation of electromagnetic waves. The chapter then goes on to showcase preliminary results obtained based on a communication model for RISs that is grounded in multiport network theory. Multiport network theory provides a framework for analyzing the electromagnetic behavior of complex systems, which is particularly relevant for understanding the operation and capabilities of RISs.Chapter 7 summarizes the studies undertaken in WP2 related to Radio-Frequency Front-End Modules, Reconfigurable antennas and RIS aspects of the project NF-PERSEUS. Specifically, it provides details about the design and manufacturing of Hybrid PA architecture, design and manufacturing of highly efficient miniature and reconfigurable antennas using in particular agile metamaterials and/or biosourced technologies.Chapter 8 gives the conclusion

Deliverable D1 - Technical Report NF-PERSEUS 2023: Power-Efficient Radio interface for Sub-7GHz distributEd massive MIMO infrastrUctureS

This is deliverable D1 "Technical Report NF-PERSEUS 2023". This document provides an overview of the progress of the studies undertaken in NF-PERSEUS project and their progress by the end of 2023.Chapter 1 delves into the advantages of cell-free architectures and their pivotal role in shaping the future of 6G wireless networks. Cell-free architectures, which move away from the traditional cellular network model, offer several compelling benefits that make them a promising solution for the next generation of mobile communication.Chapter 2 describes the main use cases identified for the NF-PERSEUS project and their KPI, providing an inventory of use case specifications, representative deployment scenarios and technical requirements. It presents also the MAMIMOSA sounder which will be employed to perform massive MIMO channel measurments for the considered NF-PERSEUS scenarios.Chapter 3 examines and discusses relevant reference scenarios based on RIS. This analysis sheds light on the technical challenges involved and the potential performance that can be achieved.Chapter 4 provides an in-depth analysis of the performance metrics used to evaluate cell-free network architectures. It presents the studies and research activities undertaken within Work Package 3 (WP3) and summarizes the progress made by the end of 2023. It presents some potential PHY layer solutions studied in the framework of NF-PERSEUS project. These solutions comprise advanced precoding/combing schemes and multi-carrier waveforms which are adequate for cell-free architectures.Chapter 5 provides an overview of the progress of the studies undertaken in WP4 and their progress by the end of 2023. WP4 deals with radio resource management and aims at introducing novel multi-user access schemes and resource allocation algorithms dedicated to distributed antenna systems, with an emphasis on achieving power and spectrum efficient massive access in scalable B5G sub-7GHz networks.Chapter 6 presents an overview of electromagnetically consistent communication models for Reconfigurable Intelligent Surfaces (RISs). These models aim to describe the communication mechanisms and performance characteristics of RISs, which are emerging technologies that can dynamically control the propagation of electromagnetic waves. The chapter then goes on to showcase preliminary results obtained based on a communication model for RISs that is grounded in multiport network theory. Multiport network theory provides a framework for analyzing the electromagnetic behavior of complex systems, which is particularly relevant for understanding the operation and capabilities of RISs.Chapter 7 summarizes the studies undertaken in WP2 related to Radio-Frequency Front-End Modules, Reconfigurable antennas and RIS aspects of the project NF-PERSEUS. Specifically, it provides details about the design and manufacturing of Hybrid PA architecture, design and manufacturing of highly efficient miniature and reconfigurable antennas using in particular agile metamaterials and/or biosourced technologies.Chapter 8 gives the conclusion