Harefuah最新文献

Introduction: While survival rates among children with cancer are high, a significant proportion of the solid tumors are considered as hard to treat (HTT). Next generation sequencing (NGS) offers the ability to detect molecular changes in tumors. Its implementation may allow usage of targeted therapy for tumors that fail to respond to acceptable oncological treatment. Furthermore, these therapies are characterized by milder side effects than chemotherapy. NGS may also aid in establishing pathological diagnoses and occasionally, identifying cancer-predisposition syndromes. However, the benefit of NGS in the pediatric population is not clear.

Aims: Evaluating the benefit of NGS in children with 'HTT' Tumors.

Methods: A retrospective study of the usage of NGS in pediatric 'HTT' in the Department of Pediatric Hemato-Oncology at the Hadassah Medical Center. Patients' demographic and clinical characteristics, molecular changes in tumor, their influence on medical decisions and disease course - were all documented.

Results: Forty-seven NGS tests from 'HTT' tumors were completed between January 2018 to August 2020. The results of these tests dictated medical decisions in 18 cases (38.3%) while it proved utility in 10 cases (21.3%). Clinical response to targeted therapy, clarification of diagnosis and identification of germline changes were documented in 3 (6.4%), 4 (8.5%) and 3 (6.4%) cases, respectively.

Conclusions: The usage of NGS may benefit children with 'HTT' and tumors with difficult diagnoses and in some cases may be life-saving.

Discussion: Cost-benefit considerations presumably prevent the assimilation of NGS tests in the standard care of pediatric oncology. It is possible that the current results will strengthen the more accurate usage of theses genomic techniques in children with 'HTT'.

Introduction: Genetic diagnosis of congenital hematological disorders is complicated by the overlap of the clinical and laboratory presentation across different diseases and the large number of genes involved in each syndrome. Nonetheless, an accurate genetic diagnosis is essential for directing the follow-up and treatment program of the patients, as well as for identifying asymptomatic family members, choosing a non-affected related donor for hematopoietic stem cell transplantation and for offering a prenatal diagnosis. In recent years, a novel method of targeted next generation sequencing using gene panels was developed. In our laboratory, gene panels were incorporated for the diagnosis of congenital hematological disorders, including inherited bone marrow failure syndromes and rare anemias, and for the detection of somatic variant in the bone marrow. It is of utmost importance that an in-depth analysis will include a correlation of the genetic variants with the clinical and laboratory presentation and with the family history. Here, we demonstrate the importance of performing a timely genetic diagnosis in patients with congenital hematological disorders.

Introduction: Hemophilia is a congenital bleeding disorder with a deficiency of coagulation factor 8 or 9 (hemophilia A or B, respectively) and a tendency for recurrent bleeding, especially into muscles and joints, which may cause orthopedic damage and necessitate joint replacement surgeries at a young age. In recent years, there has been a huge breakthrough in the treatment of hemophilia. Until recently, the only available therapy was based on repeated intravenous injection of factor concentrates (replacement therapy). Nowadays, new therapeutic options are being developed, some already registered and approved and others are still in clinical studies. The new molecules either enhance the coagulation system or inhibit coagulation inhibitors, promoting faster and improved clot formation, and are administered subcutaneously. These developments have had an enormous impact on the patients' quality of life. In the last decade, the option of complete (genetic) cure of the disease has been explored for both hemophilia A and hemophilia B, and multiple clinical gene therapy trials are currently being conducted. In this review, we discuss the novel therapies currently available for hemophilia. We will elaborate on extended half-life long acting factor concentrates, subcutaneous non-replacement therapies and gene therapy.

Introduction: Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood, arising from the bone marrow. ALL may present at diagnosis or relapse at extramedullary sites. In recent years, autologous T-cells engineered to express a chimeric-antigen receptor (CAR-T cells) have emerged as novel immune-based therapies for relapsed and refractory ALL, targeting the B-cell surface antigen CD19. Here we present a patient with relapsed ALL involving the ovaries, treated with CD19 CAR-T cells. Toxicity included cytokine-release syndrome and neurotoxicity. CAR-T cell therapy led to a complete remission, with evidence of CAR-T cell trafficking to disease sites including the bone marrow and ovaries.

Introduction: Fanconi anemia (FA) is a rare genetic syndrome characterized by increased chromosomal breakage, congenital anomalies, bone marrow failure and an increased tendency to develop malignancies. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure and the hematologic malignancies these patients develop. Given the sensitivity of FA patients to chemotherapy and radiation, as to the clinical symptoms of graft versus host disease (GvHD), HSCT in these patients is challenging. Since the mid-nineties, HSCT for FA patients is performed in our center by using the fludarabine based reduced-intensity protocol.

Aims: To summarize the results of HSCT for patients with FA using a fludarabine based reduced-intensity conditioning regimen at the Hadassah Medical Center.

Methods: This retrospective research is based on the collection and analysis of clinical and laboratory data from the medical records of patients.

Results: Since June 1996 up till February 2020, 39 patients with FA underwent 43 HSCTs with a fludarabine based protocol at the Hadassah Medical Center. Four patients required a second transplant due to primary engraftment failure. Nine patients (23%) suffered from acute GvHD, four of them severe. Eight patients (20%) developed chronic GvHD, two with an extensive and debilitating disease. Thirty-three (85%) of the patients survived and six died, five shortly after the transplant, and one twenty years later from malignancy.

Conclusions: Our results show high survival rates with low rates of engraftment failure and reasonable rates of GvHD.

Discussion: As of today, there is an effective and safe treatment for patients with FA who require HSCT by using a fludarabine-based reduced-intensity conditioning regimen, with high survival rates and few complications.

Introduction: Gastric carcinoma in pregnancy is rare and occurs in only 0.025% to 0.1% of all pregnancies. Due to it's symptoms of abdominal discomfort and nausea, which are common during pregnancy, the diagnosis is usually made in an advanced stage. We present a case of a 37 years old woman who presented at 18 weeks of gestation with abdominal pain, nausea and vomiting accompanied with severe maternal ascites. Her workup included an MRI scan, abdominal and obstetrical ultrasound scans, sampling of the peritoneal fluid, gastroscopy and diagnostic laparoscopy. She was diagnosed with a stage four gastric carcinoma. As seen in this case and in the current literature, diagnosis of gastric carcinoma in pregnancy is difficult. It often tends to be made in stage three or four and usually carries a very poor prognosis. In this paper, we describe our experience with this patient and review the literature.

Introduction: Five years have passed since the Samson Assuta Ashdod Hospital was opened for the public, the first hospital founded in Israel after decades. The count started as the doors of the emergency medicine ward opened to the public, thus expressing the point in time when, for the first time, the hospital staff could manage a patient from the time of his entrance to the hospital till the completion of definite care (such as surgery, cardiac catheterization and more). This was in comparison to treatment of only selected (ambulatory and elective) patients in the new hospital during the initial running period that lasted for half a year. Five years after opening the hospital, the medical skills and the services have developed, and the hospital continues to grow. Parallel to the expansion of medical activity, the academic activity and research have bloomed as expected in a hospital affiliated to the University of Ben Gurion. In this issue of the journal we provide a glimpse into this field in the hospital.

Introduction: Bariatric surgery is an effective tool for weight loss in the obese population, improving and often resolving related co-morbidities such as diabetes and hypertension, reducing overall morbidity and mortality. However, many patients suffer from excess and redundant skin in many areas of their body. Skin excess can cause physical, functional, psychological and aesthetic impairments such as fungal infections and skin rashes, difficulty maintaining personal hygiene, low self-esteem and self-image, social isolation, depression and low quality of life. Areas most commonly affected are the abdomen, upper arms, thighs and breasts. Body contouring surgery (post-bariatric surgery) can resolve health issues related to skin excess, improve quality of life and body image and help maintain weight loss. Since its establishment, the post-bariatric unit has performed 76 post-bariatric surgeries on 56 patients in Assuta Ashdod Hospital (67.1% abdominoplasties, 14.47% thigh-lifts, 10.52% brachioplasties, 5.26% breast surgeries, 2% gynecomastia repairs). In this article, we present the post-bariatric service in Assuta Ashdod Hospital including the pre-and post-operative treatment protocols and results.

Introduction: Intra-cochlear hemorrhage is a rare cause of sudden sensorineural hearing loss (SSNHL) which may be accompanied by diverse labyrinthine symptoms. In these cases, we expect magnetic resonance imaging (MRI) to demonstrate a high signal intensity in the labyrinth on unenhanced T1-weighted images as well as in fluid-attenuated inversion recovery (FLAIR) images.

Aims: To describe an experience with a case of intra-cochlear hemorrhage in a patient treated with anticoagulation, causing SSNHL and vertigo.

Methods: Case report and literature review.

Results: An 85-year old patient treated with anticoagulation therapy presented with right SSNHL, tinnitus and vertigo. Physical examination revealed: bilateral normal otoscopic examination, lateralized left Weber tuning fork test and a spontaneous left horizontal nystagmus. MRI performed demonstrated a high signal intensity inside the cochlea on unenhanced T1-weighted images.

Conclusions: Performing an MRI is necessary in order to rule out frequent causes of SSNHL including benign as well as malignant tumors, malformations, trauma and more. The finding of an intra-labyrinthine hemorrhage causing SSNHL is rare, and should be taken into consideration when treated by anticoagulation therapy.

Introduction: In 2017 the Samson Assuta Ashdod University Hospital opened its doors to the public. The opening of a new public hospital presented a unique opportunity to create a fully integrated emergency department, staffed exclusively by emergency medicine physicians, based on the Anglo-American model; the first of its kind in Israel. In this article we describe the model: its establishment, the challenges it presented, the solutions implemented and the interim outcomes.