Results 81 to 90 of about 31,895 (206)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Residence Near Agricultural Crops at Birth and Risk of Adult Testicular Germ Cell Tumors: A French Nationwide Case–Control Study Using Historical Aerial GIS Data

International Journal of Cancer, Volume 159, Issue 5, Page 1153-1166, 1 September 2026.
As the incidence of testicular germ cell tumors (TGCTs) rises, prenatal exposure to agricultural pesticides may represent an important risk factor. Here, geographic information system‐based measures of farmland proximity at birth were used as a proxy for early‐life pesticide exposure in France, a major pesticide consumer.
Aurélie M. N. Danjou, Astrid Coste, Lény Grassot, Elodie Faure, Carlos Crispim‐Junior, Laure Tougne Rodet, Olivia Pérol, Rémi Béranger, Jeanne Perrin, Barbara Charbotel, Joachim Schüz, Béatrice Fervers, the TESTIS study group, Helen Boyle, Aude Fléchon, Elodie Belladame, Véronique Drouineaud, Céline Chalas, Myriam Virlouvet, Lucile Ferreux, Guillemette Perier, Pauline Peretout, Diane Rivet, Sandrine Rulle, Florence Eustache, Nathalie Sermondade, Marine Durand, Rachel Levy, Isabelle Berthaut, Jacqueline Saias‐Magnan, Catherine Metzler‐Guillemain, Carole Daoud‐Deveze, Louis Bujan, Myriam Daudin, Florence Brugnon, Valérie Bruhat, Cyril Bouche, Isabelle Kocsinski, Marius Teletin, Françoise Schmitt, Nathalie Guyomard, Aline Papaxanthos, Volcy Soula, Sandrine Giscard d’Estaing, Pascale Dehee, Delphine Yalcinkaya, Céline Bouillon, Cynthia Frapsauce, Anne Viallon, Bérengère Ducrocq, Marie‐Ange Clarotti, Ethel Szerman, Amélie Ancelle, Oxana Blagosklonov, Séverine Bey, Célia Ravel, Ségolène Veau, Agnès Letremy, Patricia Fauque, Julie Barberet, Stéphanie Lattes, Emmanuelle Thibault, Catherine Diligent, Christel Hersant, Vanessa Loup‐Cabaniols, Anna Gala, Sylvianne Hennebicq, Julien Bessonnat, Marie‐Claude Blocquaux, Brigitte Dananché, Johan Spinosi, Matthieu Dubuis, Charlotte Carretero, Etienne Durand, Bénédicte Thomas, Rémi Ratajczak   +75 more
wiley   +1 more source

Can Hormonal Therapy Improve the Outcomes of mTESE in Patients With Non‐Obstructive Azoospermia?

Andrology, Volume 14, Issue 6, Page 1859-1872, September 2026.
ABSTRACT Background Non‐obstructive azoospermia (NOA) represents the most severe form of male infertility. Hypogonadism is common in NOA patients, and normal testosterone (T) levels are considered essential for spermatogenesis. Fertility‐preserving hormonal therapy (FpHT) has been proposed to optimize hormonal milieu and improve sperm retrieval rates ...
Mattia Anfosso, Maria Schubert, Jann‐Frederik Cremers, Sabine Kliesch, Michael Zitzmann, Simone Bier   +5 more
wiley   +1 more source

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Paratesticular Embryonal Rhabdomyosarcoma Masquerading as Epididymitis: A Diagnostic Challenge in Adolescents

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Paratesticular rhabdomyosarcoma is a rare malignancy in children and adolescents that frequently presents diagnostic challenges when mimicking benign inflammatory conditions. We report the case of a 14‐year‐old previously healthy male who presented with acute right scrotal pain and swelling initially diagnosed as epididymo‐orchitis.
Saif Khaled Abdalhadi Azzam, Lina Barhoum Barhoum, Ammir Abuzahra, Alaa Alazzeh, Khader Hassouneh, Nour Aldin K. Fakhory, Mohd Othman Lafi, M. I. Jawabreh Issa, Ibrahim Alzatari, Hamza Zughaier   +9 more
wiley   +1 more source

Treating inguinal hernias

BMJ, 2004
Open mesh Lichtenstein operation is preferred over laparoscopy Inguinal hernias are common; the lifetime risk for men is 27% and for women 3%.1 It has been estimated that worldwide over 20 million repairs of inguinal hernia are carried out each year, the specific operation rates varying between countries from around 100-300 per 100 000 population per
openaire   +3 more sources

Unusual Palatal Pigmentation in a 71‐Year‐Old Patient

Oral Diseases, EarlyView.
Lucía Lago‐Méndez, Carlos Manuel de Neira de Paz, Pedro Diz‐Dios, Márcio Diniz‐Freitas   +3 more
wiley   +1 more source

When the Appendix Is Not the Culprit: Primary Omental Torsion Causing Acute Abdominal Pain

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Primary omental torsion is a rare but important cause of acute abdominal pain in adults, often mimicking appendicitis. In resource‐limited settings, careful intraoperative exploration after excluding common causes is essential, as timely omental resection leads to rapid recovery and prevents complications.
Yihealem Yabebal Ayele, Eyasu Musie, Tsegaw Milkiyas Gojole   +2 more
wiley   +1 more source

STRANGULATED INGUINAL HERNIA. [PDF]

The Lancet
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openaire   +2 more sources