Papers by Yonatan Yeshayahu
Journal of Pediatric Orthopaedics B, 2014
The objective of this study was to characterize the prevalence, ethnic mix, and associated malfor... more The objective of this study was to characterize the prevalence, ethnic mix, and associated malformations of polydactyly in a multiethnic population. A retrospective analysis of 189 polydactyly patients was carried out. The incidence of polydactyly was 0.5/1000 live births and was higher in the Bedouin population. Preaxial polydactyly was 10 times more prevalent in the Jewish population and sporadic, and postaxial polydactyly was more prevalent in the consanguineous Bedouin population and associated with other malformations. We conclude that the pathologies in embryogenesis leading to preaxial and postaxial polydactyly vary, with the former occurring sporadically compared with the latter, which predominates in consanguineous families and syndromes.
American Journal of Psychiatry, 2007
TO THE EDITOR: Low dopamine-beta-hydroxylase activity has been associated with disorders such as ... more TO THE EDITOR: Low dopamine-beta-hydroxylase activity has been associated with disorders such as attention deficit disorder/attention deficit hyperactivity disorder (ADHD) as well as psychotic symptoms. One underlying mechanism that may be attributable to disulfiram would be its action in blocking dopamine-beta-hydroxylase. We report the case of a possible drug-drug interaction with disulfiram and methylphenidate for the treatment of alcohol abuse and ADHD.
Journal of Pediatric Orthopaedics B, 2014
The objective of this study was to characterize the prevalence, ethnic mix, and associated malfor... more The objective of this study was to characterize the prevalence, ethnic mix, and associated malformations of polydactyly in a multiethnic population. A retrospective analysis of 189 polydactyly patients was carried out. The incidence of polydactyly was 0.5/1000 live births and was higher in the Bedouin population. Preaxial polydactyly was 10 times more prevalent in the Jewish population and sporadic, and postaxial polydactyly was more prevalent in the consanguineous Bedouin population and associated with other malformations. We conclude that the pathologies in embryogenesis leading to preaxial and postaxial polydactyly vary, with the former occurring sporadically compared with the latter, which predominates in consanguineous families and syndromes.
PLOS ONE, 2015
Survivors of childhood cancer are at high risk for developing non-melanoma skin cancer and theref... more Survivors of childhood cancer are at high risk for developing non-melanoma skin cancer and therefore are firmly advised to avoid or minimize sun exposure and adopt skin protection measures. We aimed to compare sun exposure and protection habits in a cohort of pediatric patients with a history of malignancy to those of healthy controls. Case-control study of 143 pediatric patients with a history of malignancy (aged 11.2±4.6y, Male = 68, mean interval from diagnosis 4.4±3.8y) and 150 healthy controls (aged 10.4±4.8y, Male = 67). Sun exposure and protection habits were assessed using validated questionnaires. Patients and controls reported similar sun exposure time during weekdays (94±82minutes/day vs. 81±65minutes/day; p = 0.83), while during weekends patients spent significantly less time outside compared to controls (103±85minutes/day vs. 124±87minutes/day; p = 0.02). Time elapsed from diagnosis positively correlated with time spent outside both during weekdays (r = 0.194, p = 0.02) and weekends (r = 0.217, p = 0.01), and there was a step-up in sun exposure starting three years after diagnosis. There was no significant difference regarding composite sun protection score between patients and controls. Age was positively correlated with number of sunburns per year and sun exposure for the purpose of tanning, and was negatively correlated with the use of sun protection measures. Although childhood cancer survivors are firmly instructed to adopt sun protection habits, the adherence to these instructions is incomplete, and more attention should be paid to improve these habits throughout their lives. Since sunlight avoidance may results in vitamin D deficiency, dietary supplementation will likely be needed.
Clinical Pediatrics, 2015
The diversity of clinical presentations makes the diagnosis of DiGeorge syndrome (DGS) a diagnost... more The diversity of clinical presentations makes the diagnosis of DiGeorge syndrome (DGS) a diagnostic challenge. The objective of our study was to report the clinical presentation of DGS in the post-childhood period. A retrospective study, investigating patients diagnosed clinically and genetically with DGS at Sheba Medical Center during the period of 2010-2013. Post-childhood period was defined as age >10 years. During the study period, 29 patients were diagnosed with DGS. Nine (31%) patients with DGS were diagnosed in their post-childhood period. The basis for clinical suspicion was diverse. However, once the suspicion was brought to attention, additional symptoms consistent with DGS were noted at up to 88% of patients who presented characteristic of facial features and developmental delay. Our research shows that diagnosing DGS patients in the post-childhood period is not uncommon. Characteristic facial features and developmental delay, although not leading presenting symptoms, are found very frequently in patients with DGS.
Central European Journal of Medicine, 2012
ABSTRACT We report the case of an eighteen-month-old child who suffered a tympanic membrane perfo... more ABSTRACT We report the case of an eighteen-month-old child who suffered a tympanic membrane perforation caused by a digital thermometer. This injury led to a CSF leak. The patient was followed conservatively with no surgical intervention or prophylactic antibiotic therapy and developed pneumococcal meningitis 7 days later. He was then treated with Ceftriaxone for 12 days with full recovery, from a short and long term perspective. Issues concerning the management of CSF leak will be discussed along with review of the literature. This is the first report of post-traumatic meningitis as a result of mild trauma not involving maxillofacial or basilar fractures. The aim of our report is to raise awareness to this cause of meningitis and to stress the importance of immunizing against Streptococcal pneumoniae, a measure which may have prevented the sequelae in our case.
Global Pediatric Health, 2015
Pediatric research, Jan 12, 2015
Background22q11.2 deletion syndrome (22q11.2DS) is a congenital multi-system anomaly characterize... more Background22q11.2 deletion syndrome (22q11.2DS) is a congenital multi-system anomaly characterized by typical facial features, palatal anomalies, congenital heart defects, hypocalcemia, immunodeficiency, cognitive and neuropsychiatric symptoms. The aim of our study was to investigate T and B lymphocyte characteristics associated with 22q11.2DS.MethodsSeventy-five individuals with 22q11.2DS were tested for T and B lymphocytes by examination of T cell receptor rearrangement excision circles (TRECs) and the B cell Kappa-deleting recombination excision circles (KRECs), respectively.ResultsThe 22q11.2DS individuals displayed low levels of TRECs, while exhibiting normal levels of KRECs. There was a significant positive correlation between TREC and KREC in the 22q11.2DS group, but not in controls. Both TREC and KREC levels showed a significant decrease with age and only TREC was low in 22q11.2DS individuals with recurrent infections. No difference in TREC levels was found between 22q11.2DS...
PLoS ONE, 2014
Objective: Klotho is an aging-modulating protein expressed mainly in the kidneys and choroid plex... more Objective: Klotho is an aging-modulating protein expressed mainly in the kidneys and choroid plexus, which can also be shed, released into the circulation and act as a hormone. Klotho deficient mice are smaller compared to their wild-type counterparts and their somatotropes show marked atrophy and reduced number of secretory granules. Recent data also indicated an association between klotho levels and growth hormone (GH) levels in acromegaly. We aimed to study the association between klotho levels and GH deficiency (GHD) in children with growth impairment.
Pediatric Diabetes, 2014
PC, Urbach S. Medication-induced diabetes during induction treatment for ALL, an early marker for... more PC, Urbach S. Medication-induced diabetes during induction treatment for ALL, an early marker for future metabolic risk?. Pediatric Diabetes 2014.
Clinical Endocrinology, 2011
Canadian Journal of Diabetes, 2012
ABSTRACT To evaluate type 1 diabetes as a risk factor for vitamin D status in an established, mul... more ABSTRACT To evaluate type 1 diabetes as a risk factor for vitamin D status in an established, multi-ethnic adolescent cohort in relation to a healthy Canadian population.MethodsA total of 271 subjects, 12 to 18 years of age, with established type 1 diabetes mellitus, were recruited for this cross-sectional study. Demographic and clinical data were collected, and 25-hydroxyvitamin D (25-OHD) levels using liquid chromatography-mass spectrometry (LC-MS/MS) were measured. Normative Canadian-based population data were used as a reference group.ResultsLower rates of vitamin D sufficiency were observed in adolescents with type 1 diabetes when compared to healthy Canadian adolescents. For the type 1 diabetes group 14.0% of subjects were vitamin D sufficient (>75.0 nmol/L) and 32.8% were deficient (≤37.5 nmol/L), compared to 35.2% and 11.8%, respectively in the Canadian reference population (p<0.05). Caucasian subjects with type 1 diabetes had significantly higher vitamin D sufficiency levels (32.7%) compared to Hispanic (17.6%), South Asian (9.1%), Asian (7.1%), African-Canadian (4.2%) and mixed ethnicity (9.1%) groups (p<0.05). There was a strong association between ethnicity and vitamin D deficiency when adjusting for age, sex, body mass index (BMI) and glycated hemoglobin (A1C) (p<0.0001). Lastly, systolic blood pressure was higher in the vitamin D deficient group (p<0.05).Conclusions These results indicate that type 1 diabetes is an independent risk factor for vitamin D deficiency beyond initial diagnosis and that ethnicity plays a significant role. Given that adolescence is a critical period of accrual of bone mass and progression of diabetes complications, consideration should be given for promotion of a vitamin D fortified diet or routine supplementation particularly in visible minorities with type 1 diabetes.
The American Journal of Emergency Medicine, 2007
ABSTRACT Acetic acid ingestion can cause hemolysis, DIC, respiratory and renal insufficiency, and... more ABSTRACT Acetic acid ingestion can cause hemolysis, DIC, respiratory and renal insufficiency, and hepatic necrosis. Only a few cases of acetic acid ingestion have been described in the past, most of which caused hemolysis, and one description of hepatic necrosis. All of these were reported in adults, usually as a suicide attempt with ingestion of large amounts. Severe symptoms have not been reported so far in children following accidental ingestion of small amounts of acetic acid. We report of a 3-year-old child who ingested a minimal amount of 60% acetic acid and developed hemolysis and hepatic dysfunction.
Pediatric Research, 2014
Glucose-6-phosphatase-β (G6PC3) deficiency is characterized by congenital neutropenia and variabl... more Glucose-6-phosphatase-β (G6PC3) deficiency is characterized by congenital neutropenia and variable developmental disorders, including those of the cardiovascular system and the urogenital system (e.g., cryptorchidism) and a peculiar visibility of subcutaneous veins. A patient with clinical findings suggestive of G6PC3 deficiency was investigated. Genetic, hematopathologic, immunologic, and endocrine work-up were performed. The reported patient had binucleotide deletion mutation in G6PC3 and displayed the full spectrum of clinical manifestations associated with G6PC3 deficiency including neutropenia. The reported patient had normal bone marrow cellularity without increased apoptosis, and his neutrophils displayed normal respiratory burst activity. Endocrine work-up revealed low testosterone levels, which did not respond to human chorionic gonadotropin stimulation, extremely elevated luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels, and undetectable anti-Müllerian hormone, all of which are suggestive of testicular failure or anorchia. Our report extends the knowledge about this syndrome and suggests a role for G6PC3 in testicular differentiation and formation. Urogenital dysmorphism could indeed be unrelated to G6PC3 and secondary to consanguinity. However, given the similar description of urogenital anomalies in previous reports of this syndrome, the dysmorphism in our patient is likely related.
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Papers by Yonatan Yeshayahu