Results 81 to 90 of about 146,043 (302)

Microbiome and сytokine profile in male infertility, concomitant autoimmune joint pathology and inflammatory diseases of the genitourinary system [PDF]

, 2022
O Melnyk
openalex   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Targeted decrease of portal hepatic pressure gradient improves ascites control after TIPS

Hepatology, EarlyView., 2022
The river diagram demonstrates that after transjugular intrahepatic portosystemic shunt insertion (TIPS) the majority of patients without ascites and 50% of the patients with ascites detectable at ultrasound, show the best response in the long term follow‐up.
Alexander Queck, Louise Schwierz, Wenyi Gu, Philip G. Ferstl, Christian Jansen, Frank E. Uschner, Michael Praktiknjo, Johannes Chang, Maximilian J. Brol, Filippo Schepis, Manuela Merli, Christian P. Strassburg, Jennifer Lehmann, Carsten Meyer, Jonel Trebicka   +14 more
wiley   +1 more source

Assessing somatization in urologic chronic pelvic pain syndrome [PDF]

, 2019
BACKGROUND: This study examined the prevalence of somatization disorder in Urological Chronic Pelvic Pain Syndrome (UCPPS) and the utility of two self-report symptom screening tools for assessment of somatization in patients with UCPPS.
Alpers, D H, Hong, B A, Lai, H H, North, C S   +3 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Socioeconomic Heterogeneity in the Effect of Health Shocks on Earnings. Evidence from Population-Wide Data on Swedish Workers [PDF]

In this paper, we estimate socioeconomic heterogeneity in the effect of unexpected health shocks on labor market outcomes, using register-based data on the entire population of Swedish workers.
Lundborg, Petter, Nilsson, Martin, Vikström, Johan   +2 more
core   +3 more sources

Report of one case with de novo mutation in TLK2 and literature review

BMC Pediatrics
TLK2 variants were identified as the cause for several neurodevelopmental disorders by impacting brain development. The incidence of mutation in TLK2 is low, which has common clinical features with other rare diseases.
Han-Yue Li, Chun-Ming Jiang, Ruo-Yan Liu, Chao-Chun Zou   +3 more
doaj   +1 more source

Adult Incidence in the Russian European Arctic with Developed Mining and Metallurgical Industry (en)

Российская Арктика, 2019
The purpose of the research. The research aims to assess the adult incidence within the mining complex in the Murmansk Region (the Russian Arctic). Materials and methods.
A. N. Nikanov, V.M. Dorofeev, L.V. Talykova, N.V. Sturlis, I.V. Gushin   +4 more
doaj   +1 more source

A Retrospective Analysis of Treatment and Clinical Outsomes among Patients with Methicillin-Susceptible \u3cem\u3eStaphlococcus aureus\u3c/em\u3e Bloodstream Isolates Possessing detecable mecA by a Commercial PCR Assay Compared to Patients with Methicillin-Resistant \u3cem\u3eStaphylococcus aureus\u3c/em\u3e Bloodstream Isolates [PDF]

, 2018
mecA-positive Staphylococcus aureus isolates phenotypically susceptible to cefoxitin (mecA-methicillin-sensitive S. aureus[MSSA]) have been identified. We describe the treatment and outcomes among patients with mecA-MSSA bloodstream infections (BSI) and ...
Dilworth, Thomas J., Elshaboury, Ramy, Jones, Dylan, Munson, Erik   +3 more
core   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source