Review
Cell Biology
Saffet Ozturk
Summary: Spermatogenic arrest in non-obstructive azoospermia (NOA) involves interruption of spermatogenesis at different stages, which has been investigated through genome/exome sequencing to identify genetic variants. Variants in genes related to mitosis, meiosis, germline differentiation, and cellular events have been discovered. This review comprehensively discusses defined variants in NOA cases with spermatogenic arrest and the creation of knockout mouse models for related genes, as well as emphasizes the importance of gene panel-based screening for NOA cases.
Article
Andrology
Yuwan Dai, Xiangbin Kong, Chencheng Yao, Chengliang Xiong, Zheng Li, Honggang Li
Summary: Screening of cfs-mRNA identified BOLL cfs-mRNA as a promising non-invasive marker for diagnosing the completion of meiosis and predicting successful testicular sperm retrieval in men with NOA.
Article
Urology & Nephrology
Nahid Punjani, Ryan Flannigan, Caroline Kang, Francesca Khani, Peter N. Schlegel
Summary: The study aimed to determine the association between testicular histopathological heterogeneity and sperm retrieval rates (SRRs) in men with nonobstructive azoospermia (NOA) undergoing microdissection testicular sperm extraction (mTESE). The findings revealed that increasing testicular histopathological heterogeneity is correlated with higher SRRs in men with NOA, driven by the identification of focal areas of spermatogenesis. These results highlight the importance of histology in potentially predicting the chance of sperm retrieval in future mTESE procedures.
JOURNAL OF UROLOGY
(2021)
Review
Medicine, General & Internal
Caroline Kang, Nahid Punjani, Peter N. Schlegel
Summary: Non-obstructive azoospermia (NOA) is the most severe form of infertility, caused by spermatogenic dysfunction leading to lack of sperm in the ejaculate. Men with this condition should be evaluated before treatment to determine underlying causes. Despite the various etiologies, most NOA patients are suitable candidates for surgical sperm retrieval and ICSI treatment.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
James Wren, Matthew Hudnall, Minh Pham, Anne L. Darves-Bornoz, Joshua A. Halpern, Nelson E. Bennett, Robert E. Brannigan, Matthias D. Hofer
Summary: This study aimed to compare the rates of successful sperm retrieval in patients with a prior history of cryptozoospermia and patients with non-obstructive azoospermia (NOA) using microdissection testicular sperm extraction (mTESE). The results showed that patients with cryptozoospermia had a significantly higher chance of successful mTESE compared to patients with NOA. Factors such as pathology and hormone levels were associated with the success of mTESE.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Endocrinology & Metabolism
Tianwen Peng, Chen Liao, Xin Ye, Zhicong Chen, Yu Lan, Xin Fu, Geng An
Summary: This study evaluated the effect of preoperative gonadotropins therapy on sperm retrieval rate (SRR) and ICSI outcomes in non-obstructive azoospermia patients. The results showed that preoperative gonadotropins therapy could significantly improve SRR, but had no effect on clinical outcomes and live birth rate of ICSI.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Jian Song, Yanwei Sha, Xiaojun Liu, Xuhui Zeng, Xiuling Zhao
Summary: Non-obstructive azoospermia (NOA) affects 10% of infertile men worldwide, and genetic studies have discovered several monogenic mutations responsible for idiopathic NOA cases. This study identified three novel TEX11 mutations in NOA patients and found histological abnormalities in the testicular biopsy specimens. These findings expand the understanding of NOA genetic variants and highlight the importance of TEX11 screening for clinical diagnosis of azoospermia patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Developmental Biology
Weili Wang, Lanlan Meng, Jiaxin He, Lilan Su, Yong Li, Chen Tan, Xilin Xu, Hongchuan Nie, Huan Zhang, Juan Du, Guangxiu Lu, Mengcheng Luo, Ge Lin, Chaofeng Tu, Yue-Qiu Tan
Summary: Meiosis is a crucial process for gametogenesis and fertility, and meiotic recombination plays a significant role in ensuring accurate chromosome segregation and generating genetic diversity. Researchers have discovered that SHOC1 gene mutations have a strong clinical relevance to patients with non-obstructive azoospermia (NOA), shedding light on the mechanistic understanding of SHOC1 during meiotic recombination.
MOLECULAR HUMAN REPRODUCTION
(2022)
Article
Obstetrics & Gynecology
Ozlem Okutman, Manon Boivin, Jean Muller, Nicolas Charlet-Berguerand, Stephane Viville
Summary: By analyzing a large Turkish consanguineous family using whole exome sequencing, a homozygous nonsense variant in HORMAD1 was identified in three affected brothers with nonobstructive azoospermia (NOA). This study contributes to the understanding of the genetic causes of male infertility.
HUMAN REPRODUCTION
(2023)
Article
Medicine, General & Internal
Marco Falcone, Luca Boeri, Massimiliano Timpano, Lorenzo Cirigliano, Mirko Preto, Giorgio I. Russo, Federica Peretti, Ilaria Ferro, Natalia Plamadeala, Paolo Gontero
Summary: This study compared the surgical outcomes of microsurgical-assisted testicular sperm extraction (M-TeSE) and combined trifocal/M-TeSE in low-chance retrieval non-obstructive azoospermic (NOA) patients. The results showed that the combined trifocal/M-TeSE approach had a higher sperm retrieval rate (SRr), and the histopathology report was identified as the only significant predicting factor for positive SR.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Andrology
Mohammed Saber-Khalaf, Atef F. Ali, Omar M. Elsoghier
Summary: This study aimed to assess the predictive factors of successful sperm retrieval in non-obstructive azoospermia in patients with a history of bilateral cryptorchidism. The results showed that testicular volume and serum testosterone levels were independent factors for successful sperm retrieval.
Article
Genetics & Heredity
Hongguo Zhang, Wei Li, Yuting Jiang, Jia Li, Mucheng Chen, Ruixue Wang, Jing Zhao, Zhiyu Peng, Hui Huang, Ruizhi Liu
Summary: In this study, a total of 648 genes associated with non-obstructive azoospermia (NOA) were identified through gene association testing and linkage analysis. Six novel genes were found to be involved in meiosis-related network and potentially explaining a fraction of the heritability of unidentified NOA.
FRONTIERS IN GENETICS
(2022)
Article
Health Care Sciences & Services
Aris Kaltsas, Eleftheria Markou, Athanasios Zachariou, Fotios Dimitriadis, Evangelos N. Symeonidis, Athanasios Zikopoulos, Charalampos Mamoulakis, Dung Mai Ba Tien, Atsushi Takenaka, Nikolaos Sofikitis
Summary: This study aimed to assess the efficacy of diagnostic testicular biopsy (DTB) in predicting sperm retrieval success via therapeutic testicular biopsy (TTB) and to understand the role of systemic inflammation in microdissection testicular sperm extraction (mTESE) outcomes. The findings question the necessity of an initial DTB and suggest a possible link between systemic inflammation and reduced sperm retrieval during mTESE. The study emphasizes the need for further research to refine diagnostic approaches and deepen the understanding of factors influencing sperm retrieval in NOA patients, ultimately enhancing their prospects of biological parenthood.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Endocrinology & Metabolism
Yu Lan, Haiyan Zheng, Xin Fu, Tianwen Peng, Chen Liao, Jianan Liu, Min Liu, Geng An
Summary: Micro-TESE combined with ICSI-IVF can achieve favorable clinical outcomes for NOA patients. AZFc microdeletions are an important cause of poor embryological and clinical outcomes in NOA patients.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Shengjia Shi, Tianwei Wang, Lei Wang, Mingjuan Wang
Summary: This study found that the expression of circ_MGLL in testicular tissues is negatively associated with the success rate of sperm retrieval (SRO) in patients with non-obstructive azoospermia (NOA). A diagnostic model based on circ_MGLL, pathological types, and FSH, LH, and T levels was developed to accurately predict SRO.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Serkan Unlu, Stephanie Bezy, Marta Cvijic, Jurgen Duchenne, Marion Delcroix, Jens Uwe Voigt
Summary: RVFW LS/sPAP ratio as a new prognostic echocardiographic marker significantly predicts all-cause mortality and heart-lung transplantation in patients with pre-capillary PAH, and is superior to other well-established parameters, providing important value in understanding the relationship between RV function and afterload.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Article
Biochemistry & Molecular Biology
Anne Sophie Neyroud, Joelle Rudinger-Thirion, Magali Frugier, Lisa G. Riley, Maud Bidet, Linda Akloul, Andrea Simpson, David Gilot, John Christodoulou, Celia Ravel, Andrew H. Sinclair, Marc-Antoine Belaud-Rotureau, Elena J. Tucker, Sylvie Jaillard
Summary: Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. Whole exome sequencing (WES) was used to investigate two sisters with isolated POI, and identified variants in the LARS2 gene associated with Perrault syndrome, expanding the phenotypic spectrum associated with LARS2 variants. This molecular diagnosis allowed for the prediction and detection of a mild bilateral hearing loss in the sisters, highlighting the clinical benefit of genetic diagnosis in managing potential co-morbidity.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Arthur Clement, Theo Dominot, Jeremy Chammas, Martine Montagnon, Marie Delcroix, Jerome Pfeffer, Jean Michel Dupont, Aziza Lebbar, Patrice Clement, Francois Vialard
Summary: Infertility affects approximately 15% of couples of childbearing age, with half of these cases being primarily attributed to male factor, such as impaired spermatogenesis. Genetic screening for non-obstructive azoospermia is limited to karyotyping and Y chromosome microdeletion screening. However, for patients with de la Chapelle syndrome and/or Y chromosome microdeletions, sperm retrieval is often unsuccessful. A rare case of a patient with de la Chapelle syndrome and a complex chromosome rearrangement is reported, highlighting the high variability of X- and Y-chromosome breakpoints in this syndrome.
Review
Medicine, General & Internal
Stella Marchetta, Tom Verbelen, Guido Claessen, Rozenn Quarck, Marion Delcroix, Laurent Godinas
Summary: Chronic thromboembolic pulmonary hypertension (CTEPH) is caused by obstruction of the pulmonary vascular bed, with the function of the right ventricle (RV) and increased RV afterload playing key roles in its symptoms and prognosis.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Mathias Claeys, Thibault Petit, Jan Bogaert, Andre La Gerche, Jan Los, Marion Delcroix, Rik Willems, Guido Claessen, Piet Claus
Summary: This study evaluated ventricular interaction during exercise in patients with heart failure with preserved ejection fraction (HFpEF) and chronic thromboembolic pulmonary hypertension (CTEPH). The results showed that exercise amplifies adverse right-left ventricular interactions, particularly in CTEPH patients. The interaction is most pronounced in early diastole and during inspiration. These findings have important implications for diagnosis and treatment.
Review
Biochemistry & Molecular Biology
Esther Dos Santos, Marta Hita Hernandez, Valerie Serazin, Francois Vialard, Marie-Noelle Dieudonne
Summary: Maternal obesity is associated with increased morbidity and mortality rates in mothers and children, and the placenta plays a crucial role in mediating the effects of the maternal environment on fetal development. This review focuses on the impact of maternal obesity (without gestational diabetes) on various aspects of placental function, including endocrine function, morphology, nutrient exchanges and metabolism, inflammatory/immune status, oxidative stress, and transcriptome. Understanding the sex-specific placental responses to maternal obesity is important for improving pregnancy outcomes and maternal and child health.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Cecile Courdier, John Boudjarane, Valerie Malan, Christine Muti, Brian Sperelakis-Beedham, Sylvie Odent, Sylvie Jaillard, Chloe Quelin, Cedric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth-Bolard, Carole Goumy, Sylvia Redon, Jean-Baptiste Gaillard, Minh Tuan Huynh, Celine Dupont, Anne-Claude Tabet, Guillaume Cogan, Francois Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Genevieve Quenum, Saori Inai, Melanie Rama, Fanny Sauvestre, Frederic Coatleven, Julie Thomas, Caroline Rooryck
Summary: This study aimed to collect fetal cases carrying a 7q11.23 copy number variation (CNV) and gather detailed clinical data to expand knowledge of antenatal features in these syndromes. The researchers retrospectively recruited unrelated cases with 7q11.23 deletion or duplication who had prenatal ultrasound findings and collected data from multiple diagnostic centers in France. The results showed a broad spectrum of prenatal presentations associated with 7q11.23 CNVs, with intra-uterine growth retardation and cardiovascular defects being the most common ultrasound signs. By reporting the largest series of antenatal Williams-Beuren syndrome cases, the study aims to better understand the distinctive signs in fetuses with 7q11.23 CNVs.
PRENATAL DIAGNOSIS
(2023)
Article
Respiratory System
Gerald Simonneau, Elie Fadel, Anton Vonk Noordegraaf, Mark Toshner, Irene M. Lang, Frederikus A. Klok, Micheal C. McInnis, Nicholas Screaton, Michael M. Madani, Guillermo Martinez, Kiran Salaunkey, David P. Jenkins, Hiromi Matsubara, Philippe Brenot, Marius M. Hoeper, Hossein A. Ghofrani, Xavier Jais, Christoph B. Wiedenroth, Stefan Guth, Nick H. Kim, Joanna Pepke-Zaba, Marion Delcroix, Eckhard Mayer
Summary: Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare complication of acute pulmonary embolism caused by persistent obstruction of the pulmonary arteries. It requires timely and accurate diagnosis through imaging and haemodynamic assessment. Optimal therapy should be determined by an experienced multidisciplinary CTEPH team. This report summarizes current knowledge and key messages from the International CTEPH Conference, covering various aspects of the disease.
EUROPEAN RESPIRATORY REVIEW
(2023)
Review
Critical Care Medicine
Marion Delcroix, Catharina Belge, Geert Maleux, Laurent Godinas
Summary: Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare complication of acute pulmonary embolism. The treatment options for inoperable patients with CTEPH include medical therapy, anticoagulation, and balloon pulmonary angioplasty (BPA). This paper emphasizes the importance of a multidisciplinary approach in managing inoperable CTEPH patients.
SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Article
Respiratory System
Katleen Swinnen, Kenneth Verstraete, Claudia Baratto, Laura Hardy, Maarten De Vos, Marko Topalovic, Guido Claessen, Rozenn Quarck, Catharina Belge, Jean-Luc Vachiery, Wim Janssens, Marion Delcroix
Summary: This study developed and validated a machine learning model to improve the prediction accuracy of PH-LHD in a population of PAH and PH-LHD patients. The model significantly improved the sensitivity of PH-LHD prediction at 100% specificity, and may substantially reduce the number of patients referred for invasive diagnostics without missing PAH diagnoses.
Article
Cardiac & Cardiovascular Systems
Silke Van Genechten, Bart Meyns, Laurent Godinas, Geert Maleux, Stephanie Everaerts, Dieter Van Beersel, Catharina Belge, Birgit Weynand, Marion Delcroix, Tom Verbelen
Summary: This case reports on a 78-year-old female with suspected CTEPH undergoing PEA. During surgery, black masses were found in the aortopulmonary window and on the cranial part of the right PA. Intraluminal stenosing plaques were visualized at the orifices of several pulmonary branches. Anthracofibrosis was identified as the cause, likely due to biomass smoke exposure. This rare entity has not been reported with intravascular pictures and pathologic images before.
PULMONARY CIRCULATION
(2023)
Correction
Cardiac & Cardiovascular Systems
[Anonymous]
EUROPEAN HEART JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Birger Tielemans, Allard Wagenaar, Catharina Belge, Marion Delcroix, Rozenn Quarck
Summary: This study investigates the impact of bmpr2 gene silencing on the angiogenic capacity of human lung microvascular endothelial cells (HLMVECs) and the potential of PAH therapies to restore it. The results show that stable bmpr2 silencing impairs migration and tube formation. Inhibition of the ET-1 pathway partially restores tube formation, but has no effect on endothelial barrier function.
PULMONARY CIRCULATION
(2023)
Article
Cardiac & Cardiovascular Systems
Marc Humbert, Gabor Kovacs, Marius M. Hoeper, Roberto Badagliacca, Rolf M. F. Berger, Margarita Brida, Jorn Carlsen, Andrew J. S. Coats, Pilar Escribano-Subias, Pisana Ferrari, Diogenes S. Ferreira, Hossein Ardeschir Ghofrani, George Giannakoulas, David G. Kiely, Eckhard Mayer, Gergely Meszaros, Blin Nagavci, Karen M. Olsson, Joanna Pepke-Zaba, Jennifer K. Quint, Goran Radegran, Gerald Simonneau, Olivier Sitbon, Thomy Tonia, Mark Toshner, Jean-Luc Vachiery, Anton Vonk Noordegraaf, Marion Delcroix, Stephan Rosenkranz, Markus Schwerzmann, Anh-Tuan Dinh-Xuan, Andy Bush, Magdy Abdelhamid, Victor Aboyans, Eloisa Arbustini, Riccardo Asteggiano, Joan-Albert Barbera, Maurice Beghetti, Jelena Celutkiene, Maja Cikes, Robin Condliffe, Frances de Man, Volkmar Falk, Laurent Fauchier, Sean Gaine, Nazzareno Galie, Wendy Gin-Sing, John Granton, Ekkehard Gruenig, Paul M. Hassoun, Merel Hellemons, Tiny Jaarsma, Barbro Kjellstrom, Frederikus A. Klok, Aleksandra Konradi, Konstantinos C. Koskinas, Dipak Kotecha, Irene Lang, Basil S. Lewis, Ales Linhart, Gregory Y. H. Lip, Maja-Lisa Lochen, Alexander G. Mathioudakis, Richard Mindham, Shahin Moledina, Robert Naeije, Eva Prescott, Amina Rakisheva, Abilio Reis, Arsen D. Ristic, Jens Cosedis Nielsen, Horst Olschewski, Isabelle Opitz, Steffen E. Petersen
GIORNALE ITALIANO DI CARDIOLOGIA
(2023)
Article
Critical Care Medicine
Marion Delcroix, Marc de Perrot, Xavier Jais, David P. Jenkins, Irene M. Lang, Hiromi Matsubara, Lilian J. Meijboom, Rozenn Quarck, Gerald Simonneau, Christoph B. Wiedenroth, Nick H. Kim
Summary: This paper discusses the important advances in the diagnosis and treatment of chronic thromboembolic pulmonary hypertension (CTEPH), including the definition of CTEPH imaging characteristics and the introduction of artificial intelligence diagnosis pathways. It also highlights successful multidisciplinary management that integrates surgical, interventional, and medical treatments. The paper provides an algorithm for the initial treatment strategy in patients with newly diagnosed CTEPH.
LANCET RESPIRATORY MEDICINE
(2023)