Article
Biology
Maria Esteban-Lopez, Kenneth J. Wilson, Courtney Myhr, Elena M. Kaftanovskaya, Mark J. Henderson, Noel T. Southall, Xin Xu, Amy Wang, Xin Hu, Elena Barnaeva, Wenjuan Ye, Emmett R. George, John T. Sherrill, Marc Ferrer, Roy Morello, Irina U. Agoulnik, Juan J. Marugan, Alexander Agoulnik
Summary: Specific small molecule RXFP2 agonists induce proper development of reproduction and bone through experimental validation, providing potential for oral administration.
COMMUNICATIONS BIOLOGY
(2022)
Article
Environmental Sciences
Anteneh Assefa Desalegn, Nina Iszatt, Hein Stigum, Tina K. Jensen, Merete Eggesbo
Summary: Perinatal exposure to PCB-74, PCB-114, PCB-194, and beta-HCH in breast milk was associated with increased odds of congenital cryptorchidism in male infants. However, the associations of most PCB congeners with cryptorchidism may be confounded by co-exposure to other highly correlated chemicals. Experimental studies are needed to confirm these findings.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Endocrinology & Metabolism
Weihao Sun, Xinhui Zhang, Lei Wang, Guanyu Ren, Shuguang Piao, Chenghua Yang, Zhiyong Liu
Summary: The study investigated the histological changes and molecular mechanisms in cryptorchidism patients aged 20 to 40 years. Results showed a significant atrophy and decline in spermatogenic cells in the testes of patients with longer disease duration, with downregulation of genes related to sperm development and differentiation, providing insights into the decline in fertility in adult cryptorchidism.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Urology & Nephrology
Koji Shiraishi, Hiroshi Takihara, Hideyasu Matsuyama
Summary: The study showed that orchiopexy is effective in increasing undescended testicular volume and decreasing testicular temperature. In infants with nonpalpable testes treated by LSFSO, the transinguinal approach was found to be more effective in reducing testicular temperature compared to the conventional approach.
JOURNAL OF UROLOGY
(2021)
Article
Urology & Nephrology
Rena Xu, Joseph W. McQuaid, Vera A. Paulson, Michael P. Kurtz, Tanya Logvinenko, Richard N. Yu, Richard S. Lee, Caleb P. Nelson
Summary: This retrospective study characterized the pathological findings of testis tissue specimens from older boys and adolescents with cryptorchidism. The study found a higher incidence of malignancy in intra-abdominal undescended testes compared to extra-abdominal ones. Orchiectomy or biopsy is indicated for intra-abdominal testes, while it may not be necessary for extra-abdominal undescended testes in older boys and adolescents.
JOURNAL OF UROLOGY
(2022)
Article
Veterinary Sciences
Feriel Yasmine Mahiddine, Min Jung Kim
Summary: Cryptorchidism is a common congenital abnormality in veterinary clinics, typically treated with orchiectomy due to its hereditary nature in dogs. Surgical fixation of the testicle, known as orchiopexy, used in humans, has not been proposed as a treatment option for cryptorchidism in veterinary clinics.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Urology & Nephrology
Anthony D'Oro, Ilina Rosoklija, Elizabeth B. Yerkes, Bruce W. Lindgren, Karen Rychlik, Earl Y. Cheng
Summary: Patients with proximal hypospadias have an increased risk of acquired cryptorchidism, and operative notes reveal a high rate of epididymal nonfusion with ascended testes. Close monitoring of testis position is necessary for these patients.
JOURNAL OF UROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Abhishek Seth, Armando Rivera, Ahmed Chahdi, In-Seon Choi, Olga Medina-Martinez, Shaye Lewis, Marisol O'Neill, Alex Ridgeway, Joshua Moore, Carolina Jorgez, Dolores J. Lamb
Summary: KCTD13 gene plays an important role in hypospadias, cryptorchidism, and other genitourinary tract anomalies, and its deletion affects the subcellular localization of AR and the expression of SOX9. Copy number variants of this gene are more common in patients with genitourinary tract anomalies.
Article
Reproductive Biology
Alessandro Pecile, Debora Groppetti, Giulia Pizzi, Barbara Banco, Valerio Bronzo, Chiara Giudice, Valeria Grieco
Summary: This study investigated precancerous testicular lesions in dogs with unilateral cryptorchidism, finding immunohistochemical positivity suggestive of precancerous lesions even in scrotal testes without detectable anatomical abnormalities. This suggests the potential for neoplastic development in normally descended testes and supports a precautionary bilateral surgical approach in unilateral cryptorchid dogs.
Article
Environmental Sciences
Yuhao Wu, Junke Wang, Yuexin Wei, Jiadong Chen, Lian Kang, Chunlan Long, Shengde Wu, Lianju Shen, Guanghui Wei
Summary: Research suggests that prenatal exposure to endocrine-disrupting chemicals may increase the risk of hypospadias in males, though the relationship with cryptorchidism remains inconclusive.
Article
Veterinary Sciences
Giulia Pizzi, Debora Groppetti, Eleonora Brambilla, Alessandro Pecile, Valeria Grieco, Cristina Lecchi
Summary: Cryptorchidism, a common developmental disorder in male dogs, may affect fertility and promote neoplasia. Dysregulation of miRNAs is associated with testicular disorders and neoplasia. This study demonstrates that miRNAs are dysregulated in canine cryptorchid and seminoma-affected testes.
RESEARCH IN VETERINARY SCIENCE
(2023)
Article
Urology & Nephrology
Simone Hildorf, Erik Clasen-Linde, Magdalena Fossum, Dina Cortes, Jorgen Thorup
Summary: The fertility potential of boys with bilateral ascended testes was found to be impaired to almost the same level as that of boys with bilateral congenital cryptorchidism, suggesting that surgical correction should be performed as soon as the diagnosis of ascended testes is settled.
JOURNAL OF UROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Maciej Witkowski, Laura Pardyak, Piotr Pawlicki, Anna Galuszka, Magdalena Profaska-Szymik, Bartosz J. Plachno, Samuel Kantor, Michal Duliban, Malgorzata Kotula-Balak
Summary: The study revealed changes in the distribution of polysaccharide content in cryptorchid testes, suggesting a potential link between disrupted GPER signaling and elevated estrogen levels. Decreased expression of GPER and downstream molecules cAMP and Ca2+ in cryptorchid testes indicates their role in testis pathology. GPER may be a key player in testis development and function, serving as a possible new biomarker for horse testes in health and disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Chunlan Long, Yu Zhou, Lianju Shen, Yihang Yu, Dong Hu, Xing Liu, Tao Lin, Dawei He, Tao Xu, Deying Zhang, Jing Zhu, Guanghui Wei
Summary: This study found that RA supplementation can up-regulate the expression of c-Kit, Stra8, and Sycp3 by activating RARa in neonatal cryptorchid infertile rats. RA can also inhibit the protein expression of the PI3K-Akt-mTOR signaling pathway and promote autophagy in cryptorchid testes.
Article
Andrology
Carme Grande-Moreillo, Sara Fuentes-Carretero, Jaume Margarit-Mallol, Carlos Perez-Lopez, Alejandro Rodriguez-Molinero
Summary: Acquired cryptorchidism accounts for more than half of cryptorchidism cases requiring surgery in our setting, with a clearly different age of presentation than that for congenital cryptorchidism.
Article
Multidisciplinary Sciences
Amina Bakhchane, Majida Charif, Sara Salime, Redouane Boulouiz, Halima Nahili, Rachida Roky, Guy Lenaers, Abdelhamid Barakat
Article
Urology & Nephrology
Yassine Naasse, Hicham Charoute, Brahim El Houate, Chadli Elbekkay, Lunda Razoki, Abderrahim Malki, Abdelhamid Barakat, Hassan Rouba
Article
Oncology
Mounia Elidrissi Errahhali, Manal Elidrissi Errahhali, Redouane Boulouiz, Meryem Ouarzane, Mohammed Bellaoui
Article
Multidisciplinary Sciences
Amina Bakhchane, Majida Charif, Amale Bousfiha, Redouane Boulouiz, Halima Nahili, Hassan Rouba, Hicham Charoute, Guy Lenaers, Abdelhamid Barakat
Article
Cell Biology
Saida Lhousni, Fatiha Daoudi, Ihab Belmokhtar, Karam Yahya Belmokhtar, Naima Abda, Redouane Boulouiz, Mariam Tajir, Mohammed Bellaoui, Meryem Ouarzane
BIOPRESERVATION AND BIOBANKING
(2020)
Article
Genetics & Heredity
Soukaina Elrharchi, Zied Riahi, Sara Salime, Hicham Charoute, Lamiae Elkhattabi, Redouane Boulouiz, Mostafa Kabine, Crystel Bonnet, Christine Petit, Abdelhamid Barakat
Summary: This study identified a disease-segregating mutation in the X-linked AIFM1 gene in Moroccan patients with X-linked auditory neuropathy, predicting its impact on the protein and confirming X-linked dominant inheritance through pedigree analysis.
Article
Biotechnology & Applied Microbiology
Saida Lhousni, Karam Yahya Belmokhtar, Ihab Belmokhtar, Mounia Elidrissi Errahhali, Manal Elidrissi Errahhali, Redouane Boulouiz, Mariam Tajir, Majida Charif, Khawla Zerrouki, Noufissa Benajiba, Maria Rkain, Abdeladim Babakhouya, Hatim Kouismi, Afaf Thouil, Hanane Latrach, Rim Amrani, Sahar Messaoudi, Anass Ayyad, Zaina Sidqi, Khalid Andaloussi Serraj, Siham Hamaz, Habiba Alaoui, Houda Bachir, Yassamine Bentata, Intissar Haddiya, Mohammed Choukri, Rachid Seddik, Amal Bennani, Siham Dikhaye, Bouchra Oneib, Fatima Elghazouani, Omar El Mahi, Adnane Benzirar, Ayat Allah Oufkir, Brahim Housni, Ahmed Mimouni, Hanane Saadi, Mohammed Belahcen, Tijani El Harroudi, Meryem Ouarzane, Mohammed Bellaoui
BIOMED RESEARCH INTERNATIONAL
(2020)
Article
Genetics & Heredity
Ihab Belmokhtar, Saida Lhousni, Mounia Elidrissi Errahhali, Ayad Ghanam, Manal Elidrissi Errahhali, Zaina Sidqi, Meryem Ouarzane, Majida Charif, Mohammed Bellaoui, Redouane Boulouiz, Noufissa Benajiba
Summary: This study presents the molecular profile of beta-thalassemia in the Eastern region of Morocco for the first time, revealing a high molecular heterogeneity compared to previous studies in Morocco and other North African countries. These findings are valuable for the implementation of carrier screening, genetic counseling, and prenatal diagnosis programs.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Medicine, General & Internal
Faiza Chbel, Hicham Charroute, Redouane Boulouiz, Hasna Hamdaoui, Houssein Mossafa, Houda Benrahma, Karim Ouldim
Summary: This study reported a deleterious missense mutation c.662G>T in the M-D Moroccan family for the first time, based on protein modeling analysis.
CLINICAL CASE REPORTS
(2022)
Article
Endocrinology & Metabolism
Saida Lhousni, Majida Charif, Yassine Derouich, Mounia Elidrissi Errahhali, Manal Elidrissi Errahhali, Meryem Ouarzane, Guy Lenaers, Redouane Boulouiz, Mohammed Belahcen, Mohammed Bellaoui
Summary: This article reports a case of AMD Grebe type, a rare disease characterized by short stature, shortened limbs, and malformations of the hands and feet. The patient, from a consanguineous Moroccan family, showed additional features that had not been previously reported, including bilateral simian creases, lumbar hyperlordosis, and lower limb length inequality, as well as dislocated hips in one of them. The study identified a novel BMPR1B variant that may be responsible for this disease.
Article
Genetics & Heredity
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B. Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortuem, Delphine Heron, Cyril Mignot, Boris Keren, Susan Brooks, Christina Botti, Bruria Ben-Zeev, Emanuela Argilli, Elliot H. Sherr, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Somayeh Bakhtiari, Michael C. Kruer, Mustafa A. Salih, Alma Kuechler, Eric A. Muller, Karli Blocker, Outi Kuismin, Kristen L. Park, Aaina Kochhar, Kathleen Brown, Subhadra Ramanathan, Robin D. Clark, Magdeldin Elgizouli, Gia Melikishvili, Nazhi Tabatadze, Zornitza Stark, Ghayda M. Mirzaa, Jinfon Ong, Ute Grasshoff, Andrea Bevot, Lydia von Wintzingerode, Rami A. Jamra, Yvonne Hennig, Paula Goldenberg, Chadi Al Alam, Majida Charif, Redouane Boulouiz, Mohammed Bellaoui, Rim Amrani, Fuad Al Mutairi, Abdullah M. Tamim, Firdous Abdulwahab, Fowzan S. Alkuraya, Ebtissal M. Khouj, Javeria R. Alvi, Tipu Sultan, Narges Hashemi, Ehsan G. Karimiani, Farah Ashrafzadeh, Shima Imannezhad, Stephanie Efthymiou, Henry Houlden, Heinrich Sticht, Christiane Zweier
Summary: This study aims to investigate the mechanism of developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability caused by missense variants in the BTB domain region of the RHOBTB2 gene. Through international collaboration, researchers found that missense variants in the BTB domain region lead to severe developmental and epileptic encephalopathy. In addition, missense variants in the GTPase domain are associated with neurodevelopmental disorders, but have milder effects compared to variants in other regions. This study identifies the genetic phenomenon of RHOBTB2 gene mutations in neurodevelopmental disorders and expands the molecular and clinical spectrum of the related phenotypes.
GENETICS IN MEDICINE
(2023)
Article
Public, Environmental & Occupational Health
Karam Yahya Belmokhtar, Mariam Tajir, Redouane Boulouiz, Amal Bennani, Sami Aziz Brahmi, Ihsan Alloubi, Hatim Kouismi, Imane Kamaoui, Imane Skiker, Said Afqir, Naima Abda, Mohammed Bellaoui, Loubna Mezouar
PAN AFRICAN MEDICAL JOURNAL
(2019)
Article
Chemistry, Medicinal
Btissam Bouchal, Mounia Elidrissi Errahhali, Manal Elidrissi Errahhali, Redouane Boulouiz, Meryem Ouarzane, Mariam Tajir, Katsuyoshi Matsunami, Mohammed Bellaoui
NATURAL PRODUCTS JOURNAL
(2019)
Article
Pharmacology & Pharmacy
Karima Azekour, Souad Belamalem, Abdelmajid Soulaymani, Brahim El Houate, Bachir El Bouhali
DRUGS-REAL WORLD OUTCOMES
(2019)
Article
Oncology
Manal Elidrissi Errahhali, Mounia Elidrissi Errahhali, Meryem Ouarzane, Redouane Boulouiz, Mohammed Bellaoui