Dorota Majak - Academia.edu (original) (raw)

Papers by Dorota Majak

Pediatric Endocrinology, Diabetes and Metabolism, 2023

Introduction: Adrenocortical carcinoma (ACC) is rare and an aggressive tumour. Mitotane is the ma... more Introduction: Adrenocortical carcinoma (ACC) is rare and an aggressive tumour. Mitotane is the mainstay adjuvant drug in treating ACC. The study aimed to describe patients diagnosed with precocious puberty (PP) and other endocrinological complications during mitotane therapy. Material and methods: This retrospective study enrolled 4 patients with ACC treated with mitotane therapy complicated by PP. We analysed clinical manifestations, radiological, histopathological findings, and hormonal results. Results: The median age at the diagnosis of ACC was 1.5 years. All patients were treated with surgery and mitotane, accompanied by chemotherapy regimens in 2 cases. The median time from surgery to the initiation of mitotane therapy was 26 days. During mitotane treatment, PP was confirmed based on symptoms, and hormonal and imaging tests. In one patient, incomplete peripheral PP was followed by central PP. The median time from the therapy initiation to the first manifestations of PP was 4 months. Additionally, due to mitotane-induced adrenal insufficiency, patients required a supraphysiological dose of hydrocortisone (HC), and in one patient, mineralocorticoid (MC) replacement with fludrocortisone was necessary. In 2 patients, hypothyroidism was diagnosed. All patients presented neurological symptoms of varying expression, which were more severe in younger children. Conclusions: The side effects of using mitotane should be recognized quickly and adequately treated. In prepubertal children, PP could be a complication of therapy. The need to use supraphysiological doses of HC, sometimes with MC, should be highlighted. Some patients require levothyroxine replacement therapy. The neurotoxicity of mitotane is a significant clinical problem.

Endocrine Abstracts, Oct 31, 2023

Frontiers in Endocrinology

BackgroundPituitary stalk thickening (PST) is a rare abnormality in the pediatric population. Its... more BackgroundPituitary stalk thickening (PST) is a rare abnormality in the pediatric population. Its etiology is heterogeneous. The aim of the study was to identify important clinical, radiological and endocrinological manifestations of patients with PST and follow the course of the disease.Materials and MethodsIt is a study conducted in 23 patients (13 boys) with PST with/without central diabetes insipidus (CDI) diagnosed between 1990 and 2020 at Children’s Memorial Health Institute (CMHI) in Warsaw, Poland. We analyzed demographic data, clinical signs and symptoms, radiological findings, tumor markers, hormonal results, treatment protocols and outcomes.ResultsThe median age at the diagnosis of PST was 9.68 years (IQR: 7.21-12.33). The median time from the onset of the symptoms to the diagnosis was 2.17 years (IQR: 1.12-3.54). The most common initially reported manifestations were polydipsia, polyuria and nocturia (82.6%); most of the patients (56.5%) also presented decreased growth v...

Journal of Clinical Research in Pediatric Endocrinology

What is already known on this topic? Insulinoma, especially malignant, is a very rare pancreatic ... more What is already known on this topic? Insulinoma, especially malignant, is a very rare pancreatic neuroendocrine tumor in children. Insulinoma may be a part of multiple endocrine neoplasia type 1 and is very rare with von Hippel-Lindau syndrome, neurofibromatosis type 1, and tuberous sclerosis. Surgical resection remains the treatment of choice whenever possible. Diazoxide or somatostatin analogs can be used as an initial pre-surgical treatment or to achieve biochemical control in patients with unresectable tumors. What does this study add? Liver transplantation is one of the surgical treatment options for liver metastases, especially in young people, after primary pancreatic neuroendocrine tumor resection. Due to the sporadic presence of insulinoma in children, they should be treated in the multidisciplinary reference centre specialized in neuroendocrine tumors, equipped with modern treatment methods, providing surgical oncology, and with the participation of specialists in adult care.

Frontiers in Endocrinology, May 20, 2022

Background: Pituitary stalk thickening (PST) is a rare abnormality in the pediatric population. I... more Background: Pituitary stalk thickening (PST) is a rare abnormality in the pediatric population. Its etiology is heterogeneous. The aim of the study was to identify important clinical, radiological and endocrinological manifestations of patients with PST and follow the course of the disease. Materials and Methods: It is a study conducted in 23 patients (13 boys) with PST with/ without central diabetes insipidus (CDI) diagnosed between 1990 and 2020 at Children's Memorial Health Institute (CMHI) in Warsaw, Poland. We analyzed demographic data, clinical signs and symptoms, radiological findings, tumor markers, hormonal results, treatment protocols and outcomes. Results: The median age at the diagnosis of PST was 9.68 years (IQR: 7.21-12.33). The median time from the onset of the symptoms to the diagnosis was 2.17 years (IQR: 1.12-3.54). The most common initially reported manifestations were polydipsia, polyuria and nocturia (82.6%); most of the patients (56.5%) also presented decreased growth velocity. Hormonal evaluation at the onset of PST revealed: CDI (91.3%), growth hormone deficiency (GHD) (56.5%), hyperprolactinemia (39%), central hypothyroidism (34.8%), adrenal insufficiency (9%), precocious puberty (8.7%). The majority of the patients were diagnosed with germinoma (seventeen patients-73.9%, one of them with teratoma and germinoma). Langerhans cell histiocytosis (LCH) was identified in three patients (multisystem LCH in two patients, and unifocal LCH in one patient). A single case of atypical teratoid rhabdoid tumor, suspected low-grade glioma (LGG) and lymphocytic infundibuloneurohypophysitis (LINH). The overall survival rate during the observational period was 87.0%. Conclusions: The pituitary infundibulum presents a diagnostic imaging challenge because of its small size and protean spectrum of disease processes. Germinoma should be suspected in all children with PST, especially with CDI, even when neurological and ophthalmological symptoms are absent.

Pediatric Endocrinology Diabetes and Metabolism

Introduction: Pituitary stalk thickening (PST) is a rare abnormality in children, and it may be c... more Introduction: Pituitary stalk thickening (PST) is a rare abnormality in children, and it may be challenging due to its diverse clinical picture. The aim of the study is to summarize the data on the causes and diagnostic procedures of PST. Material and methods: Papers were searched in the PubMed database identifying published randomized clinical trials, reviews, systematic reviews, meta-analyses, and case reports. Results: The most common causes of a thickened pituitary stalk in children are germ cell tumours (GCTs), Langerhans cell histiocytosis (LCH), and lymphocytic infundibulo-neurohypophysitis (LINH). Neurosarcoidosis, pituitary tuberculosis, granulomatosis, or specific inflammations were only reported in the paediatric population as case studies. PST mainly affects teenagers and is often detected with brain magnetic resonance imaging (MRI) in patients with central diabetes insipidus (CDI). It is not possible to differentiate the causes of PST with the use of the MRI image alone. Although various biochemical and oncological markers and other imaging tests are used, the diagnosis of PST remains a significant diagnostic challenge for clinicians. The final diagnosis is made based on histopathological examination. The indications for a biopsy are not uniform. Most experts, including the authors of the 2021 British consensus, recommend biopsy in the case of PST with a stalk lesion diameter ≥ 6.5-7 mm. Conclusions: The differential diagnosis of PST is a challenge. The diagnostic and treatment strategy should be individually adapted. Patients should be diagnosed in large clinical centres with experience in this field.

Pediatria Polska, 2019

Tracheobronchial remnant (TBR), one of the causes of congenital oesophageal stenosis (COS), is a ... more Tracheobronchial remnant (TBR), one of the causes of congenital oesophageal stenosis (COS), is a rare anomaly, the treatment of which is hampered by the lack of well-established therapeutic strategies. A definite diagnosis of TBR can be made only by histopathological examination of the resected segment. A 10-month-old girl was admitted to a district hospital due to dysphagia, intolerance of solid food, and regurgitation. The patient was referred to our hospital for continuation of the treatment. She underwent a laparotomy, segmental resection of the oesophageal narrowing, end-to-end anastomosis, and anterior fundoplication. Surgical excision of the stricture is the only effective treatment of a patient with TBR.

Postepy Nauk Medycznych, Feb 6, 2014

Introduction. Swallowing disorders are a relevant but often unrecognized and underestimated probl... more Introduction. Swallowing disorders are a relevant but often unrecognized and underestimated problem in children. Sometimes they lead to aspiration pneumonia. Aim. The aim of this study was to show the usefulness of the videofluoroscopic swallowing studies' (VFSS) findings in children with various diseases and symptoms of swallowing disorders based on experiences of the Department of Gastroenterology, Hepatology and Nutrition Disorders in Poland. Material and methods. A total of 36 children were enrolled in this retrospective study. All patients presented swallowing disorders, therefore they were referred to VFSS. Indications for VFSS were defined by a physician and speech-language pathologist. The outcomes were reviewed by a radiologist and speech-language pathologist. Type of feeding, compensation or rehabilitation was recommended by speech-language pathologist. The swallowing problems, VFSS findings and recommendation after examination were analyzed. Results. The reason for VFSS referral was "the safety of swallowing" (17 children) or the assessment the function of swallowing (15 children). For the rest of patients the reason for VFSS was the simultaneous evaluation of the safety and function of swallowing (4 children). 22 children (61%) presented with respiratory symptoms as a cause of swallowing disorders and the necessity for VFSS. Silent aspiration was observed in 15 of patients, aspiration with cough in 2, pharyngeal residue in 6, residue with penetration in 6 of all patients. The VFSS outcomes indicated the necessity to modify oral feeding in 19 children (53%). In 12 patients (33%) oral feeding was discontinued. Rehabilitation without oral feeding was ordered in 13 patient (36%), general swallowing rehabilitation with the oral use of foods in 11 children (30%). Compensation using different food consistency was used in 9 patient (25%), compensation by proper positioning and modified feeding technique was adopted in 16 children (44%). Feeding disorders therapy was ordered in 8 children (22%). Conclusions. This method is helpful for defining and diagnosis the problem with swallowing. VFSS allows to choose a proper therapy and to determine the way of feeding accordingly to different pathophysiologic mechanisms of swallowing disorders in children. S t r e s z c z e n i e Wstęp. Zaburzenia połykania są istotnym, ale często niedocenianym i nierozpoznanym problemem u dzieci. Czasem prowadzą do zachłystowego zapalenia płuc. Cel pracy. Celem pracy jest przedstawienie metod terapeutycznych i efektów wideofluoroskopowej oceny aktu połykania (VFSS) u dzieci z różnymi chorobami i objawami zaburzeń połykania leczonych w Klinice Gastroenterologii, Hepatologii i Zaburzeń Odżywiania w Polsce. Materiał i metody. Do badania retrospektywnego zakwalifikowano 36 dzieci. Wszyscy pacjenci prezentowali zaburzenia połykania, w związku z czym zostali skierowani na badanie VFSS. Wskazania do VFSS zostały określone przez lekarza i logopedę. Wyniki zostały zweryfikowane przez radiologa i logopedę. Sposoby karmienia, kompensacji lub rehabilitacji zostały zalecone przez logopedę. Przeanalizowano problemy z połykaniem, wyniki VFSS oraz zalecenia po badaniu.

Poster: "ECR 2018 / C-3089 / Recurrent pneumonia (RP) in children – the diagnostic role of v... more Poster: "ECR 2018 / C-3089 / Recurrent pneumonia (RP) in children – the diagnostic role of videofluoroscopic swallowing study (VFSS)" by: "D. MAJAK, E. WINNICKA, E. Jurkiewicz; WARSAW/PL"