A5001957554- Adrenal and Paraganglionic Tumors
- Reproductive tract infections research
- Urinary Tract Infections Management
- Smoking Behavior and Cessation
- Syphilis Diagnosis and Treatment
- Neuroendocrine Tumor Research Advances
- Viral Infections and Immunology Research
- Ovarian cancer diagnosis and treatment
- Parathyroid Disorders and Treatments
- Cardiac tumors and thrombi
- Thyroid Cancer Diagnosis and Treatment
- Eosinophilic Disorders and Syndromes
- Thyroid Disorders and Treatments
- Vector-borne infectious diseases
- Bone Tumor Diagnosis and Treatments
- Hemoglobinopathies and Related Disorders
- Hormonal Regulation and Hypertension
- Regulation of Appetite and Obesity
- interferon and immune responses
- Vector-Borne Animal Diseases
- Urinary and Genital Oncology Studies
- Neonatal Health and Biochemistry
- Cancer, Hypoxia, and Metabolism
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
Texas Children's Hospital
2011-2021
Baylor College of Medicine
2007-2021
National Public Health and Medical Officer Service
2017-2020
National Center for Epidemiology
2014-2015
Eötvös Loránd University
2011
Children's Nutrition Research Center at Baylor College of Medicine
2007
Ectopic ACTH/CRH syndrome is a rare cause of Cushing (CS), especially in children. The localization, work-up, and management ACTH/CRH-secreting tumors are discussed.A retrospective study was conducted patients under 21 years age evaluated at the National Institutes Health (NIH) for CS diagnosed with ectopic during period 2009-2014.Seven included this median 13.6 (range 1-21), 3 female.Clinical, biochemical, radiological features, treatment, histological findings described.Seven were found to...
Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function POMC typically results adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital novel mutation atypical clinical features. The patient presented at age 9 months hypoglycemia endocrine evaluation resulted diagnosis deficiency. She developed...
We investigated a Q fever outbreak with human patients showing high fever, respiratory tract symptoms, headache and retrosternal pain in southern Hungary the spring summer of 2013. Seventy cases were confirmed by analysing their serum blood samples micro-immunofluorescence test real-time PCR. The source infection was merino sheep flock 450 ewes, which 44.6% (25/56) seropositivity detected enzyme-linked immunosorbent assay. Coxiella burnetii DNA PCR milk four 20 individuals two thirds (41/65)...
1. DIRECTIVE 2014/40/EU OF THE EUROPEAN PARLIAMENT AND COUNCIL of 3 April 2014 on the approximation laws, regulations and administrative provisions Member States concerning manufacture, presentation sale tobacco related products repealing Directive 2001/37/EC, OJ L 127/1. 2001. Google Scholar
The aim of our study was to monitor the diversity HIV-1 strains circulating in Hungary and investigate prevalence resistance-associated mutations reverse transcriptase (RT) protease (PR) inhibitors newly diagnosed, drug-naive patients. A total 30 HIV-1-infected patients without prior antiretroviral treatment diagnosed during period 2008–2010 were included into this study. Viral subtypes presence RT, PR established by sequencing. Classification showed that 29 (96.6%) infected with subtype B...
The extragenital manifestation of Chlamydia trachomatis infection frequently results in non-specific conjunctivitis among sexually active adults. aims the present study were to determine prevalence C. trachomatis, describe distribution serovars patients with and characterize relationship between patient demographics such as age gender. A total 245 conjunctival specimens screened for DNA targeting plasmid gene. Serovar determination trachomatis-positive was carried out by an omp1 PCR-based...
The objective of the present study was to determine frequency and age distribution different Chlamydia trachomatis (CT) genotypes causing ophthalmia neonatorum (ON) in Hungary. Using CT specific PCR, we tested 76 conjunctival samples from symptomatic infants up 3 months old National Centre for Epidemiology, Budapest between 2008 2016. positive 30 (39.5 %). sequencing successful every case but one, resulted 48 % dominance genotype E (14/29), followed by 24 G (7/29), 10 J (3/29), 6.9 K F...
Background. McCune-Albright syndrome (MAS) is characterized by hyperpigmented macules, endocrinopathies, and fibrous dysplasia. Hyperthyroidism the second most common endocrinopathy in MAS its management challenging, particularly among infants toddlers. Traditionally, young have been treated with antithyroid medications, but remission likely these medications severe side effects affect control of other endocrinopathies. Thus, it reasonable to consider permanent treatment options at an...
Following the implementation of European Union Tobacco Product Directive (EU TPD) regulations on e-cigarette products in 2016, we assessed current profile liquid exposure incidents and their associated health outcomes.De-identified data were received from poison centers eight EU Member States (Sweden, Netherlands, Italy, Hungary Austria, Finland, Spain Croatia) reporting between August 2018 to December 2019. Descriptive analysis was conducted present incident characteristics outcomes....
We report the clinical and molecular phenotype of three siblings from one family, who presented with short stature immunodeficiency carried uncharacterized variants in RGS10 (c.489_491del:p.E163del c.G511T:p.A171S). This gene encodes regulator G protein signaling 10 (RGS10), a member large family GTPase-activating proteins (GAPs) that targets heterotrimeric to constrain activity protein-coupled receptors, including receptors for chemoattractants. The affected individuals exhibited systemic...
We report a 5-year-old girl who presented to our emergency room with respiratory arrest and limb deformities was subsequently diagnosed X-linked hypophosphatemic rickets. On normalization of the serum phosphorus concentration, her distress resolved, illustrating that untreated rickets can lead life-threatening distress.
Background: The etiology of hyperandrogenism in adolescent females includes polycystic ovarian syndrome, non-classical congenital adrenal hyperplasia (CAH), Cushing’s androgen-secreting tumors (adrenal or ovarian) exogenous use. Ovarian producing androgens comprise <5% all neoplasms and usually originate from sex cord stromal cells. There are sporadic case reports mature cystic teratomas (MCTs), a type germ cell tumor, causing women but only two reported cases virilizing MCTs girls (1, 2)....
Background: Pheochromocytomas and paragangliomas (PHEO/PGL) are catecholamine producing tumors of the autonomous nervous system that arise from chromaffin cells in adrenal medulla or extra-adrenal paraganglionic tissue. About 40% these associated with germline mutations VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD etc.(1). However, there reports chronic hypoxemia triggering development such tumors, especially patients congenital cyanotic heart disease (CCHD). PHEO/PGL association a CCHD was first...