Publications by authors named "Gafner M"

Article Synopsis
  • - This study investigated how the width of the fetal subarachnoid space (SAS) relates to fetal conditions like macrocephaly (large head), microcephaly (small head), and fetal growth restriction (FGR) using MRI scans from 78 fetuses.
  • - Researchers measured SAS dimensions at ten specific brain locations, comparing results with previously healthy fetal data to determine trends in SAS width among the different pathological groups.
  • - Findings showed that SAS widths were significantly larger in the macrocephaly group compared to the microcephaly group, with consistent differences across most locations, indicating a clear link between SAS width and these fetal conditions.
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Aim: To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling.

Method: A retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of suspected brain abnormalities between January 2008 and December 2022, with one or both parents who underwent brain MRI (MRI-Trio) as part of prenatal counselling. Clinical and demographic data were collected, including fetal and parental MRI findings, prenatal counselling outcomes, genetic testing results, family and previous pregnancy history, neurological examinations of the born children up to 24 months of age, and autopsy reports of fetuses from terminated pregnancies.

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Purpose: The study aimed to evaluate the causes of death and associated factors in cases of stillbirth, using post-mortem examination and applying a rigorous, evidence-based holistic approach.

Methods: Our retrospective observational study included cases of autopsy following stillbirth that occurred at our tertiary medical center during a period of 8 years. Detailed up-to-date criteria that incorporate clinical reports, medical history, prenatal imaging, and histopathological findings were used to evaluate the cause of death and associated factors.

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Hydrocephalus is rarely described in Joubert-Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed.

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Introduction: The subarachnoid space (SAS) is a potential space surrounding the brain where the cerebrospinal fluid (CSF) flows. Previous work demonstrated how the SAS width changes during pregnancy and measured the normal values per gestational week.

Objectives: Studying the ratio between the fetal brain volume (STV) and the SAS width (SS ratio), as measured via fetal magnetic resonance imaging (MRI) in different fetal pathologies - macrocephaly and microcephaly, and studying the correlation between this ratio and the gestational week.

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Background And Purpose: Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book from 2005 as an anomalous mass protruding from the posterior medullary surface. We describe the neuroimaging, clinical, postmortem, and genetic findings defining this unique malformation.

Materials And Methods: This is a multicenter, international, retrospective study.

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Purpose: Fetal growth assessment is a key component of prenatal care. Sex-specific fetal brain nomograms on ultrasound are available and are clinically used. In recent years, the use of fetal MRI has been increasing; however, there are no sex-specific fetal CNS nomograms on MRI.

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Background And Purpose: According to the medical literature, it is known that intrauterine growth restriction is associated with abnormal fetal brain findings. The aim of this study was to assess the volume of fetal brain structures in fetuses with intrauterine growth restriction compared with the control group and to examine the effect of intrauterine growth restriction on birth weight in relation to the effect on the volumes of these structures.

Materials And Methods: This historical cohort study included 26 fetuses diagnosed with intrauterine growth restriction due to placental insufficiency.

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Aim: To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders.

Method: In this international multicentre retrospective study, we contacted a CASK parents' social media group and colleagues with expertise in cerebellar malformations and asked them to supply clinical and imaging information. Centiles and standard deviations (SD) were calculated according to age by nomograms.

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Objective: It is common knowledge among clinicians who treat PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis) patients that emotional stress can trigger PFAPA attacks similarly to other autoinflammatory diseases. However, it has never been proved scientifically. Our aim was to examine whether emotional stress serves as a trigger for PFAPA attacks.

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Background: Current American College of Cardiology/American Heart Association/Heart Rhythm Society (ACC/AHA/HRS) and European Society of Cardiology (ESC) guidelines recommend different strategies to avoid low-yield admissions in patients with syncope.

Objective: The purpose of this study was to directly compare the safety and efficacy of applying admission criteria of both guidelines to patients presenting with syncope to the emergency department in 2 multicenter studies.

Methods: The international BASEL IX (BAsel Syncope EvaLuation) study (median age 71 years) and the U.

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Article Synopsis
  • Interstitial deletions of the 16q24.1-q24.2 region are linked to serious health issues, including alveolar capillary dysplasia, renal malformations, and neurodevelopmental disorders.
  • A case study is presented of a boy who has congenital lymphedema, distichiasis, hydronephrosis, and developmental delays due to a new microdeletion at this chromosome location.
  • This finding adds to our understanding of both the 16q24.1-q24.2 microdeletion syndrome and Lymphedema-Distichiasis syndrome, specifically indicating that the deletion affects the 3'-UTR region of the FOXC2 gene.
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Objective: BCORL1, a transcriptional co-repressor, has a role in cortical migration, neuronal differentiation, maturation, and cerebellar development. We describe BCORL1 as a new genetic cause for major brain malformations.

Methods And Results: We report three patients from two unrelated families with neonatal onset intractable epilepsy and profound global developmental delay.

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Background And Purpose: Definitions of fetal microcephaly and macrocephaly are debatable. A better understanding of their long-term prognoses would help guide parental education and counseling. This study aimed to explore the correlation between 2D and 3D fetal brain MR imaging biometry results and the long-term neurodevelopmental outcomes.

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Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is transmitted mainly via respiratory droplets. A key question in the coronavirus disease 2019 pandemic is whether SARS-CoV-2 could be transmitted via the airborne route as well. We report for the first time SARS-CoV-2 nosocomial infections despite using surgical masks and physical distancing.

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Objective: The representation of women among authors of peer reviewed scientific papers is gradually increasing. The aims of this study were to examine the trend of the proportion of women among authors in the field of rheumatology during the last two decades.

Methods: Articles published in journals ranked in the top quartile of the field of rheumatology in the years 2002-2019 were analysed.

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Article Synopsis
  • The study aimed to analyze biometric parameters in ultrasound and MRI of fetuses diagnosed with isolated mega cisterna magna (MCM) at a single medical center.
  • Out of 103 fetuses, 44 had isolated MCM, showing significantly larger measurements in biparietal diameter and head circumference compared to the control group with normal CNS.
  • Results suggest that isolated MCM is associated with larger fetal CNS metrics and may be influenced by the gender of the fetus, with a higher prevalence of males in the study group.
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Purpose: Measurement of the fetal brain can be achieved by different modalities, we aimed to assess the agreement between these methods and the head circumference at birth.

Methods: A retrospective study conducted between 2011-2018 at a tertiary referral medical center. Sonographic head circumference (HC), 2D MRI bi-parietal diameter (BPD) and occipito-frontal diameter (OFD), 3D MRI supra-tentorial volume (STV), and head circumference (HC) at birth were measured and converted into centiles according to gestational age.

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Annual influenza epidemics are associated with high morbidity and mortality worldwide, with vaccinations being the main preventive intervention; however, the compliance rate of health care employees remains low. Study aims were to examine vaccination rates among physicians and nurses in surgical and medicine wards, compare between medium and large tertiary hospitals, and identify factors associated with increased vaccination rates. Structured questionnaires were distributed.

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Purpose: To characterize the population of women who underwent mid-trimester preterm premature rupture of membrane (PPROM) in a country where mid-trimester abortions are legal and available.

Methods: A retrospective cross-sectional cohort study was conducted at a tertiary referral hospital, during 2013-2016. Mid-trimester defined as gestational age 13 + 0 to 23 + 6 weeks.

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Pontocerebellar hypoplasia (PCH) encompasses a group of neurodegenerative disorders. There are ten known subtypes with common characteristics of pontine and cerebellar hypoplasia or atrophy, neocortical atrophy, and microcephaly. PCH is associated with anterior horn cell degeneration in PCH1a and PCH1b due to mutations in the VRK1 and EXOSC3 genes.

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Epilepsy and intracranial pressure (ICP) can be interrelated. While shunt malfunction is recognized as a cause of seizures, shunt over-drainage is seldom reported as such. We report a child who had undergone ventriculoperitoneal shunt insertion at the age of 6 months following an excision of a left ventricle choroid plexus papilloma, who developed refractory epilepsy since the age of 3 years.

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Two spatial tasks were designed to test specific properties of spatial representation in rats. In the first task, rats were trained to locate an escape hole at a fixed position in a visually homogeneous arena. This arena was connected with a periphery where a full view of the room environment existed.

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