Results 81 to 90 of about 557,300 (331)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Transient Pseudohypoaldosteronism in an Infant: A Case Report

Journal of the ASEAN Federation of Endocrine Societies, 2018
Transient pseudohypoaldosteronism is strongly linked to urinary tract infections complicating structural urinary tract anomalies. A 3-month-old baby girl with hyponatremia, hyperkalemia and metabolic acidosis associated with urinary tract infection and ...
Tin Nwe Latt, Siti Iryawani Rahman, Noor Shafina Mohd Nor   +2 more
doaj  

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Hospital-Acquired Urinary Tract Infections: Results of a Cohort Study Performed in an Internal Medicine Department

Acta Médica Portuguesa, 2017
Introduction: Urinary tract infections are the most frequent healthcare associated infections, being related to both high costs and morbidity. Our intention was to carry out an epidemiological characterization of hospital acquired urinary tract ...
Maria João Lobão, Paulo Sousa
doaj   +1 more source

ACUTE COLON BACILLUS INFECTION OF THE URINARY TRACT [PDF]

, 1918
J. Dellinger Barney
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

A Combined Aptamer Pulldown‐DNAzyme Cleavage Assay for Intact Methicillin Resistant Staphylococcus aureus Cells

Angewandte Chemie, EarlyView.
Rapid fluorescence and lateral flow assays were developed for methicillin resistant Staphylococcus aureus (SA) by combining a DNA aptamer for selective isolation and an RNA‐cleaving DNAzyme for detection of MRSA. Abstract Accurate and convenient detection of methicillin resistant Staphylococcus aureus (MRSA) plays a vital role in determining ...
Monsur Ali, Abigail F. Almeida, Dawn White, Alfredo Capretta, John D. Brennan   +4 more
wiley   +2 more sources

Urinary and reproductive tract infection symptoms and menstrual hygiene practices in refugee camps in Jordan: A cross-sectional study

Women's Health
Background: Urinary tract infections and reproductive tract infections pose significant health risks, particularly among women living in challenging conditions.
Joud Al Karmi, Mohammad Ali Alshrouf, Tala A Haddad, Abdulrahman E Alhanbali, Neven Amer Raiq, Hadeel Ghanem, Omar Bassam Ibrahim, Tala Khamis, Nadia Muhaidat   +8 more
doaj   +1 more source

Coliform Infection of the Urinary Tract [PDF]

, 1949
P. N. Coleman, Susan Taylor
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source