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Genetics

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Brief Report

Impact of Selective Reporting of Antibiotic Susceptibility Test Results on Antibiotic Use in Patients with Bloodstream Infection with Streptococcus pneumoniae

Florian Geismann; Kathleen Brueckner; Michael Pfeifer; Bernd Salzberger; Stilla Bauernfeind; Florian Hitzenbichler; Michaela Simon; Aila Caplunik-Pratsch; Wulf Schneider-Brachert; Clemens Wiest; Thilo Hinterberger; Tamara Ruegamer; Arno Mohr

https://doi.org/10.1159/000537770

Novel Insights from Clinical Practice

A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy

Emine Caliskan; Safiye Gunes Sager; Akif Ayaz; Kerem Teralı; Hediye Pinar Gunbey

https://doi.org/10.1159/000538900

Novel Insights from Clinical Practice

De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

Miriam Bertrand; Gulalai Shah; Brent S. Pedersen; Alexander Schulz; Anja Weise; Thomas Liehr; Peter Huppke; Stephanie DiTroia; Aaron R. Quinlan; Tobias B. Haack; Ralf A. Husain

https://doi.org/10.1159/000538918

Original Article

Loss of one X and the Y chromosome changes the configuration of the X inactivation center in the genus Tokudaia

Luisa Matiz-Ceron; Miki Okuno; Takehiko Itoh; Ikuya Yoshida; Shusei Mizushima; Atsushi Toyoda; Takamichi Jogahara; Asato Kuroiwa

https://doi.org/10.1159/000539294

Original Article

First karyotypic insights into Potamotrygon schroederi Fernández-Yépez, 1958: association of different classes of repetitive DNA

Alex M.V. Ferreira; Patrik F. Viana; Leandro Marajó; Eliana Feldberg

https://doi.org/10.1159/000539331

Research Article

comorbidPGS: an R package assessing shared predisposition between Phenotypes using Polygenic Scores

Vincent Pascat; Liudmila Zudina; Anna Ulrich; Jared G. Maina; Marika Kaakinen; Igor Pupko; Amélie Bonnefond; Ayşe Demirkan; Zhanna Balkhiyarova; Philippe Froguel; Inga Prokopenko

https://doi.org/10.1159/000539325

Novel Insights from Clinical Practice

Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant

Sibğatullah Ali Orak; Dilek Gün Bilgiç; Çisil Çerçi Kubur; Aslı Kübra Atasever; Celil Yılmaz; Muzaffer Polat

https://doi.org/10.1159/000538741

Research Article

Impact of PD-L1 gene polymorphisms and interactions with cooking with solid fuel exposure on tuberculosis

Kun Tang; Jing Wang; Hua Zhong; Qiaozhi Wang; Zihao Li; Chunli Wu; Rongjing An; Ying Lin; Hongzhuan Tan; Lizhang Chen; Mian Wang; Mengshi Chen

https://doi.org/10.1159/000538904

Acknowledgement to Reviewers

https://doi.org/10.1159/000537980

Contents Vol.163, 2023

https://doi.org/10.1159/000539029

Original Article

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease

Burhanettin Yalçınkaya; Kübra Adanur Sağlam; Kerem Terali; Emine Tekin; Hava Taslak; Ayberk Türkyılmaz

https://doi.org/10.1159/000538676

Fetal Therapy

Continuous Fetal Cardiac Monitoring during Fetoscopic Myelomeningocele Repair and Relationship to Spectral Doppler Changes

Stephanie A. Eyerly-Webb; Lisa Howley; Clifton O. Brock; Joseph B. Lillegard; James Fisher; Benjamin Reynolds; Emily F. Barthel; Eric Dion; Saul Snowise

https://doi.org/10.1159/000538122

Original Article

Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract

Tugce Oztepe; Feride Iffet Sahin; Aysun Caltik Yilmaz; Esra Baskin; Mehmet Haberal; Yunus Kasim Terzi

https://doi.org/10.1159/000538653

Novel Insights from Clinical Practice

Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia

Mohammed Al-Hatou; Abeer Sabry Safan; Mohamed A. Atta; Maria Siddiqi

https://doi.org/10.1159/000538225

Prenatal Diagnosis

Prenatal Management and Perinatal Outcome in a Large Series of Hydrops Fetalis

Lorena María Sebastián de Lucas; Polán Ordás Álvarez; Laura de Castro Marzo; Tamara Illescas Molina; Beatriz Herrero; José Luis Bartha; Eugenia Antolín

https://doi.org/10.1159/000538857

Fetal Therapy

Pain Scores after Open Fetal Spina Bifida Repair and Caesarean Section: A Longitudinal Cohort Study

Julia Zepf; Ladina Vonzun; Ladina Rüegg; Nele Strübing; Franziska Krähenmann; Martin Meuli; Luca Mazzone; Ueli Moehrlen; Theres Moehrlen; Lukas Kandler; Spina Bifida Study Group Zurich; Nicole Ochsenbein-Kölble

https://doi.org/10.1159/000538588

Clinical Fetal Medicine

Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases

Qiu-Xia Yu; Li Zhen; Dong-Zhi Li

https://doi.org/10.1159/000538949

Original Article

Revealing the Satellite DNA Content in Ancistrus sp. (Siluriformes: Loricariidae) by Genomic and Bioinformatic Analysis

Gabriel Esbrisse dos Santos; Carolina Crepaldi; Marcelo João da Silva; Patricia Pasquali Parise-Maltempi

https://doi.org/10.1159/000538926

Novel Insights from Clinical Practice

A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum

Tuğba Daşar; Abdulkerim Kolkıran; Abdullah Sezer; Ercan Bal; Esra Kılıç