A5064378899- Pituitary Gland Disorders and Treatments
- Adrenal and Paraganglionic Tumors
- Adrenal Hormones and Disorders
- Glioma Diagnosis and Treatment
- Growth Hormone and Insulin-like Growth Factors
- Neuroblastoma Research and Treatments
- Cancer, Hypoxia, and Metabolism
- DNA Repair Mechanisms
- Genetic Syndromes and Imprinting
- Genetic and Kidney Cyst Diseases
- Blood disorders and treatments
- Liver Disease Diagnosis and Treatment
- Myasthenia Gravis and Thymoma
- Neuroendocrine Tumor Research Advances
- Histiocytic Disorders and Treatments
- Liver Disease and Transplantation
- Teratomas and Epidermoid Cysts
- Fetal and Pediatric Neurological Disorders
- Vascular anomalies and interventions
- Congenital Anomalies and Fetal Surgery
- Neurofibromatosis and Schwannoma Cases
- Sexual Differentiation and Disorders
- Maternal and Neonatal Healthcare
- History of Medical Practice
- Mitochondrial Function and Pathology
Children's Memorial Health Institute
2015-2024
Instytut Matki i Dziecka
2017-2023
Jan Kochanowski University
2021
Wojewódzki Szpital Zespolony
2017
Rzeszów University
2017
Bone age is one of biological indicators maturity used in clinical practice and it a very important parameter child’s assessment, especially paediatric endocrinology. The most widely method bone assessment by performing hand wrist radiograph its analysis with Greulich-Pyle or Tanner-Whitehouse atlases, although has been about 60 years since they were published. Due to the progress area Computer-Aided Diagnosis application artificial intelligence medicine, lately, numerous programs for...
The defects in DNA repair genes are potentially linked to development and response therapy medulloblastoma. Therefore the purpose of this study was establish spectrum frequency germline variants selected their impact on chemotherapy medulloblastoma patients.The following were investigated 102 paediatric patients: MSH2 RAD50 using targeted gene panel sequencing NBN (p.I171V p.K219fs*19) by Sanger sequencing. In three patients with presence rare life-threatening adverse events (AE) no detected...
The authors report a case of germinoma the brain in child with symptoms restricted to central nervous system. Ten-year-old girl presented initially sight deterioration, learning difficulties, abnormal behavior, polydipsia, and polyuria. Brain magnetic resonance examination revealed T2 hyperintensity corpus callosum, anterior commissure, caudate nuclei. biopsy extensive macrophage infiltration. Given these results positive antinuclear antibodies blood, immunosuppressive immunomodulatory...
Introduction Cushing's disease (CD) is a rare cause of hypercortisolemia presenting major diagnostic and therapeutic challenge. Data on pituitary function in long-term follow-up after CD treatment childhood limited. Aim Long-term assessment patients the Children's Memorial Health Institute (CMHI) childhood. Materials methods Retrospective analysis 29 patients, mean age at time diagnosis 13.46 yrs. The (FU) was done by: 1) obtaining data from patient's questionnaire (75% adult patients); 2)...
ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) is characterised by rapid-onset obesity in young children, hypoventilation, hypothalamic autonomic dysfunction. The exact aetiology of the disease remains unknown, number reported cases seems to be underestimated. We present case a nine-year-old male patient suspected due weight gain since early childhood, decreased height velocity, hypodipsia, excessive perspiration, pyrexial...
Von Hippel-Lindau disease (vHL) is a hereditary, autosomal dominant syndrome manifested by predisposition to the occurrence of benign and malignant neoplasms. The spectrum vHL-related neoplasms includes: pheochromocytoma (PHEO), central nervous system retinal hemangioblastomas, renal clear cell carcinoma, epididymal cystadenomas, pancreatic neuroendocrine tumors as well visceral (renal pancreatic) cysts. We report family (5 patients) with genetically confirmed vHL in which every member had...
This study aims to analyze the diagnostic accuracy of bilateral inferior petrosal sinus sampling (BIPSS), gold standard test for differential diagnosis ACTH-dependent Cushing's syndrome (CS) in a group pediatric patients with disease (CD).This is retrospective analysis which include 12 hypercortisolemia and inconclusive pituitary MRI, who underwent (BIPSS) transsphenoidal surgery (TSS) from 2004 2020 Children's Memorial Health Institute (CMHI) Warsaw, Poland. Pituitary origin ACTH secretion...
Ectopic adrenocorticotropic syndrome (EAS) causes approximately 10-18% of cases Cushing's (CS) in adults, while children it occurs much less frequently.We report two neuroendocrine tumors (of the thymus and appendix) a 12-year-old boy 15-year-old girl who presented with clinical features CS. Elevated serum cortisol, ACTH, chromogranin levels were observed both patients. Diagnoses made on basis mass thymus/appendix region visualized chest/abdominal CT scan radiotracer accumulation...
Abstract Background: Adenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma an infant who also presented triad defects characteristic Currarino syndrome. Case presentation: A girl was born with large region associated anal atresia. At age 7 days, concentration α-fetoprotein (AFP) above age-specific normal range. Two non-radical surgical excisions tumour were performed....
Abstract Background: Rathke cleft cysts (RCC) are benign, epithelium-lined intrasellar and/or suprasellar believed to originate from the remnants of pouch. The aim this study was analyse symptoms and surgical outcome patients with diagnosis RCC verified in a histopathological examination postoperative material. Methods: is retrospective analysis 38 cases children who underwent neurosurgical treatment due at Children’s Memorial Health Institute Warsaw, Poland, between 1994 2015. Results: At...
Abstract Purpose Craniopharyngioma is one of the most frequent benign tumours central nervous system in paediatric population. Although it a tumour according to WHO classification, significantly deteriorates patient’s quality life. The aim this study assess if proliferation index Ki67 can be useful marker risk craniopharyngioma’s recurrence. Methods Expression was examined 85 specimens primary craniopharyngioma and 11 recurring tumour. In all cases, adamantinomatous type diagnosed. Values...
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by pancreatic exocrine insufficiency, immune deficiency, bone marrow failure, and malformations. Systematic data concerning endocrine function in SDS are limited. We studied patients diagnosed The Children's Memorial Health Institute Warsaw, Poland, to assess the prevalence of various endocrinopathies.In pilot study, retrospective were collected for 5 with SDS. Subsequently, aged 3-16 years recruited...
ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Stradomska T, Drabko K, Moszczyńska E, Tylki-Szymańska A. Original articleMonitoring of very long-chain fatty acids levels in X-linked adrenoleukodystrophy, treated with haematopoietic stem cell transplantation and Lorenzo’s Oil. Folia Neuropathologica. 2014;52(2):159-163. doi:10.5114/fn.2014.43787. APA Stradomska, T., Drabko, K., Moszczyńska, E., & Tylki-Szymańska, (2014). Neuropathologica, 52(2), 159-163....
Virginal breast hypertrophy is a multidisciplinary condition including surgical, pediatric, and endocrine/gynecological disciplines, its successful diagnosis management requires complex, team approach.