Harefuah最新文献

Background: Short stature is a common finding among the general population, mostly presented as an isolated phenotype. The syndromic short statute is rare and complex. Recently, we examined several patients from related families sharing both short stature and congenital dental abnormalities.

Objectives: 1. Clinical characterization of syndromic short stature; 2. To find the disease mutation and evaluate the carrier state in the particular community.

Methods: Clinical characterization- by medical history, medical records and physical examination; Homozygosity mapping - by using the Single nucleotide polymorphism (SNP) chromosomal microarrays (CMA) analysis and gene mutation detection by ABI Sanger sequence.

Results: All patients present with short stature severe dental anomalies including enamel formation and mineralization defect, oligodontia, abnormal shape and retarded eruption. CMA analysis in 3 patients and 2 healthy members of four families was normal. One homozygote region in chromosome 11 (11p11.2- 11q13.3) was found in all patients. By using the candidate gene approach, amongst the 301 genes found within this region, only one, the LTBP3 gene (Latent Transforming Growth Factor-Beta-Binding Protein-3) has high priority for sequence. Hence, LTBP3 (OMIM-602090) pathogenic variant is responsible for "brachyolmia with amelogenesis imperfecta" also known as "Dental Anomalies and Short Stature (DASS)" (OMIM- 601216). We sequenced all 29 LTBP3 exons and a novel splice pathogenic variant, c.1346-1G>A chr11:65319629, in exon 8 was identified. The variant segregated well within healthy tested family members. We found a high carrier rate in the village (1:15).

Conclusions: We identified a novel and common LTBP3 gene pathogenic variant responsible for short stature, brachyolmia and amelogenesis imperfecta in Druze Arab patients.

Introduction: Considerable progress has been observed in the field of genetic counseling and testing in Israel, including the availability and funding of services. The purpose of the article is to summarize the management and present the updates in the field of genetic testing in Israel, as of 2022. The progress in the field of pregnancy-related genetic testing includes an ancestry-based annually updated genetic screening, which has significantly reduced the incidence of several severe and common hereditary diseases. A comprehensive and uniform genetic screening test was submitted for approval by the next basket committee.

Introduction: Drug-resistant epilepsy in children is associated with morbidity, developmental regression and mortality. Over recent years, there is an increase in awareness regarding the role of surgery in the treatment of refractory epilepsy, both in the diagnostic phase and for treatment, reducing the number and magnitude of seizures. Technological advancements have enabled a minimalization of surgery, with reduction in surgical associated morbidity.

Methods: In this retrospective study, we review our experience with cranial surgery for epilepsy between the years 2011-2020. Collected data included information regarding the epileptic disorder, surgery, surgical-related complications and epilepsy outcome.

Results: A total of 93 children underwent 110 cranial surgeries over a decade. The main etiologies included cortical dysplasia (29), Rasmussen encephalitis (10), genetic disorders (9), tumors (7) and tuberous sclerosis (7). The main surgeries included lobectomies (32), focal resections (26), hemispherotomies (25), and callosotomies (16). Two children underwent MRI-guided laser interstitial thermal treatment (LITT). The most significant improvements following surgery were following hemispherotomy or tumor resection (100% of children, each). Following resections for cortical dysplasia led to a significant improvement in 70%. In 83% of children undergoing callosotomy, there were no additional drop seizures; 14% of the entire group underwent additional epilepsy surgery; 23% of children had an unexpected complication, in the vast majority with no permanent sequela. There was not mortality.

Conclusions: Epilepsy surgery may lead to significant improvement and even cure of epilepsy. There is a wide span of epilepsy surgical procedures. Ealy referral of children with refractory epilepsy for surgical evaluation may significantly reduce the developmental injury, and improve functional outcomes.

Introduction: Stereotactic radiosurgery (SRS) is a minimally invasive option commissioned in the treatment of intracranial arteriovenous malformations (AVMs). As long-term follow-up data became available, some late adverse effects have been reported, including SRS-induced neoplasia. However, the exact incidence of this adverse effect is unknown. In this article we present and discuss the topic with an unusual case of a young patient who was treated with SRS for AVM and developed a malignant brain tumor.

Introduction: Multiple studies have demonstrated that the improved extent of resection for patients with glioma is associated with improved survival. The use of intraoperative electrophysiology cortical mapping to demonstrate function became a standard of care in modern neurosurgery and an indispensable tool to achieve the goal of maximal safe resection in tumor surgery. In this study, we review the brief history of intraoperative electrophysiology cortical mapping from the first cortical mapping study back in 1870 to the innovative tool of broad gamma cortical mapping used today.

Introduction: The use of intraoperative electrical cortical stimulation (ECS) to map function is the standard of care in modern neurosurgery. Recently, high gamma electrocorticography (hgECOG) mapping has had encouraging results. In this study we aim to compare hgECOG and fMRI with ECS for motor and language mapping.

Methods: We retrospectively evaluated medical records of patients who underwent awake surgery for tumor resection between January 2018 and December 2021. The first 10 consecutive patients who underwent ECS and hgECOG for mapping of motor and language functions were defined as the study group. Pre- and intra-operative imaging and electrophysiology data were used for analysis.

Results: ECS and hgECOG motor mapping demonstrated functional motor areas in 71.4% and 85.7% of patients, respectively. All motor areas identified with ECS were also demonstrated using hgECOG. In 2 patients, hgECOG-based mapping demonstrated motor areas not demonstrated with ECS but present in preoperative fMRI imaging. Of the 15 hgECOG tasks performed for language mapping, the findings of 6 (40%) were in accordance with the ECS mapping. Two (13.3%), showed language areas that were demonstrated using ECS and in addition, showed areas that were not. Four mappings (26.7%) showed language areas that were not demonstrated using ECS. In 3 mappings (20%), the functional areas identified by ECS were not demonstrated by hgECOG.

Conclusions: Intraoperative hgECOG for mapping of motor and language functions provide a fast and reliable method without the risk of stimulation-induced seizures. Further studies are needed to assess functional outcome of patients undergoing hgECOG-guided tumor resection.

Introduction: This year marks the anniversary of the 80th year of the Warsaw Ghetto Uprising (1943 -2023), a very important and significant turning point in the history of the Holocaust. The Uprising is not the only demonstration of courage and strength, in rebelling against the brutal Nazi oppressor: there was another form of intellectual and spiritual resistance in the ghetto - medical resistance. Physicians, nurses, and other healthcare professionals resisted. Not only did they provide very diverse and dedicated medical assistance to the ghetto residents, but they went beyond their professional duties in initiating research on Hunger Diseases and in founding a clandestine medical school. The medical work in the Warsaw Ghetto is a symbol of the victory of the human spirit.

Introduction: Stereotactic radiosurgery is a disruptive therapeutic technique that has transformed neurosurgery and the treatment of intracranial tumors in the last few decades. Achieving tumor control rates over 90%, it is performed mostly in a single session, as an outpatient procedure involving no skin cuts, head shaving, or anesthesia, Radiosurgery stands out as a treatment modality with few and mostly transient side effects. Even though ionizing radiation (the energy used in radiosurgery) is known to be cancerogenic, radiosurgery-induced tumors have been exceedingly rare. In this issue of Harefuah, the Hadassah group reports a case of glioblastoma multiforme originating in the radio surgically treated site of an intracerebral arterio-venous malformation. We discuss what we can learn from this dire occurrence.

Introduction: In the current issue of the "Harefuah" journal, original research articles and review articles describe current trends in advanced innovative technologies implemented in neurosurgery departments in Israel in the last decade. The articles present the implications of these technologies on the quality and safety of care of neurosurgical patients. The leading current trends include the development of subspecialties within neurosurgery and the restructuring of departments to reflect this, the integration of inter- and intra-disciplinary collaborations into patient management, the development of minimally invasive techniques, the advancement of epilepsy and functional neurosurgery in Israel and the use of non-surgical therapeutics. Workflow methods and innovative technologies that improve treatment efficiency and patient safety that have been implemented are presented and discussed. The current issue reports on original research works carried out in the various departments in Israel and review articles on the relevant topics.