Gundula Thiel

Dizziness in children

Gundula Thiel

Abstract Childhood dizziness is a common problem with an estimated incidence of between 5% and 18%. However, children all develop abilities at different ages and to different extents and teasing out what is abnormal from normal can also be quite tricky. A …

P05.03: Antenatal sonographic and genetic diagnosis of two cases of Bardet‐Biedl syndrome

Jacob Hartung, K. Ladig, Gundula Thiel, Rabija Chaoui

Bardet-Biedl syndrome (BBS) belongs to the group of ciliopathies and has an autosomal-recessive inheritance with 22 genes known already. In the child it is associated with retinal dystrophy, obesity, neurological and psychic disabilities, hypogonadism, postaxial polydactyly and renal dysfunction. There are overlapping …

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PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar et autres

PURPOSE: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. METHODS: Here, we introduce an approach driven by artificial intelligence that uses portrait …

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Potential life-threatening complication of tonsillectomy: cervicofacial surgical emphysema

Kirsten Shoemaker, Christopher S. G. Thompson, Rupali Sawant, Gundula Thiel

A 30-year-old woman presented to the accident and emergency department 3 days post-tonsillectomy with bleeding from the tonsillar fossa and left-sided facial swelling. The patient denied any dysphagia or breathing difficulties but experienced pain on neck movement. On examination, although the bleeding …

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PEDIA: Prioritization of Exome Data by Image Analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Peter Michael Krawitz et autres

Abstract Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. Here, we introduce an approach, driven by artificial intelligence that uses portrait photographs …

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Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany

Sophie Hinreiner, Dagmar Wieczorek, Dietmar Mueller, Tanja Roedl et autres

Holoprosencephaly (HPE) has been defined as a distinct clinical entity with characteristic facial gestalt, which may-or may not-be associated with the true brain malformation observed postmortem in autopsy or in pre- or postnatal imaging. Affected families mainly show autosomal dominant inheritance with …

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Pediatric Otolaryngology

Roy Clarke, Marcus K.H. Auth, Fuad M. Baroody, An N. Boudewyns et autres

Treatment of children with epistaxis: A 3 year follow up

Gundula Thiel, Paul Joice, Mary‐Louise Montague

Frequent induction of chromosomal aberrations in in vivo skin fibroblasts after allogeneic stem cell transplantation: hints to chromosomal instability after irradiation

Gero Massenkeil, Petra Zschieschang, Gundula Thiel, Philipp Hemmati et autres

BACKGROUND: Total body irradiation (TBI) has been part of standard conditioning regimens before allogeneic stem cell transplantation for many years. Its effect on normal tissue in these patients has not been studied extensively. METHOD: We studied the in vivo cytogenetic effects of …

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The behavior of mastoidectomy cavities following modified radical mastoidectomy

Gundula Thiel, John Alexander Rutka, David Douglas Pothier

OBJECTIVES/HYPOTHESIS: An analysis of the frequency and intensity of postoperative aftercare required for modified radical mastoidectomy (MRM) and patterns of healing in the postoperative period. STUDY DESIGN: A retrospective review of all primary modified radical mastoidectomies carried out for cholesteatoma under the …

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Differentially Expressed MicroRNAs in Maternal Plasma for the Noninvasive Prenatal Diagnosis of Down Syndrome (Trisomy 21)

Julian Kamhieh‐Milz, Reham Fadl Hassan Moftah, Gürkan Bal, Matthias Erwin Futschik et autres

OBJECTIVES: Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs). We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be utilized as biomarkers for the noninvasive prenatal diagnosis …

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Results of myringoplasty operations in active and inactive ears in adults

Robert P. Mills, Gundula Thiel, Nadtaya Mills

OBJECTIVES/HYPOTHESIS: To determine whether the presence of aural discharge at the time of surgery adversely affects the success rate of myringoplasty operations. STUDY DESIGN: Case series comparing the success rate of surgery in active and inactive ears. METHODS: Data pertaining to 268 …

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