99 research outputs found
Polskie ultrasonograficzne normy objętości tarczycy dla dzieci szkolnych
Introduction: A frequency in excess of 5% of goitre in children is an approved WHO marker of iodine deficiency. As thyroid ultrasound
remains the main method of thyroid volume (TV) assessment, the choice of adequate normative values is important for the proper interpretation
of epidemiologic data. There is disagreement as to whether local or international normative values should be used. The aim of
this study was to establish Polish local TV normative values in children aged 6–12 years.
Material and methods: The study was carried out in a group of 642 children aged 6–12 years (312 girls and 330 boys) living in the Polish
seaside area with a proven history of best iodine supply. Inclusion criteria were: iodine concentration in casual morning urine samples
above 100 μg/L, no goitre on palpation, no pathological findings on thyroid US, no history of thyroid disorders, no treatment affecting
thyroid function, and written informed consent from the child’s parents. TV was measured ultrasonographically with a 7.5 MHz linear
transducer. Urinary iodine concentration (UIC) was measured in urine spot samples using the Sandell-Kolthoff method.
Results: Median UIC ranged according to age from 126.6 to 155.1 μg/L in girls, and from 132.23 to 157.62 μg/L in boys. TVs at P97 were:
3.96, 4.23, 4.33, 5.44, 6.07, 9.5, and 10.9 for girls and 3.99, 4.2, 4.79, 6.61, 7.38, 7.89, and 9.35 for boys. They were lower than the 1997 WHO
normative values but higher than the 2004 reference currently adopted by the WHO.
Conclusions: The obtained results may be adopted as normative TV values for Polish children. (Pol J Endocrinol 2012; 63 (2): 104–109)Wstęp: Częstość wola u dzieci szkolnych powyżej 5% jest zaakceptowanym przez WHO wskaźnikiem niedoboru jodu. Ponieważ ultrasonograficzne
badanie stanowi podstawę oceny objętości tarczycy, wybór odpowiednich norm, międzynarodowych lub lokalnych, jest
podstawą właściwej interpretacji danych epidemiologicznych. Celem badania było ustalenie prawidłowej wielkości tarczycy u 6–12-latków
mieszkających w Polsce.
Materiał i metody: Badanie przeprowadzono w grupie 642 dzieci szkolnych w wieku 6–12 lat (312 dziewcząt i 330 chłopców) zamieszkujących
tereny nadmorskie o najlepszym zaopatrzeniu w jod. Kryteria włączenia obejmowały: stężenie jodu w moczu > 100 μg/l, brak
wola w badaniu palpacyjnym, prawidłowy wynik USG tarczycy, ujemny wywiad w kierunku chorób tarczycy, niestosowanie leczenia
wpływającego na czynność tarczycy, pisemną zgodę rodziców dziecka na badania. Objętość tarczycy oceniano ultrasonograficznie, wykorzystując
głowicę liniową 7,5 MHz. Stężenie jodu w moczu (UIC) mierzono metodą Sandell-Kolthoffa.
Wyniki: Mediana UIC wahała się w zależności od wieku od 126,6 do 155,1 μg/l u dziewczynek oraz od 132,23 do 157,62 μg/l u chłopców.
Dziewięćdziesiąty siódmy percentyl objętości tarczycy wynosił: 3,96, 4,23, 4,33, 5,44, 6,07, 9,5, 10,9 oraz 3,99, 4,2, 4,79, 6,61, 7,38, 7,89, 9,35
dla 6–12 letnich dziewcząt i chłopców, odpowiednio. Uzyskane wartości były niższe niż normy WHO z 1997 roku i wyższe niż zaproponowane
w 2004 roku i obecnie zaakceptowane przez WHO.
Wnioski: Uzyskane wyniki mogą zostać wykorzystane jako normy objętości tarczycy dla polskich dzieci szkolnych. (Endokrynol Pol
2012; 63 (2): 104–109
The relation of pituitary adenomas invasiveness and the proliferative index measured by immunoexpression of topoisomerase IIα
Tumor of the Turkish saddle with endocrine disorders as the first manifestation of gastric adenocarcinoma
Adult secondary hemophagocytic lymphohistiocytosis with cerebral and meningeal symptoms early after allogeneic hematopoietic stem cell transplantation
An assessment of the effectiveness of iodine prophylaxis in pregnant women - analysis in one of reference gynaecological-obstetric centres in Poland
Single-agent MOR208 salvage and maintenance therapy in a patient with refractory/relapsing diffuse large B-cell lymphoma : a case report
Background: Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin’s lymphoma. Standard
first-line treatment for this aggressive subtype comprises the anti-CD20 antibody rituximab combined with
cyclophosphamide, doxorubicin, vincristine, and prednisone. If patients receiving such treatment have an early
relapse, or their disease is initially refractory to such treatment, standard salvage regimens may not be effective.
There is therefore a high unmet clinical need for new targeted agents that might improve the outcome for such
patients. CD19 is a B-lymphocyte lineage-specific cell surface antigen that is expressed by most B-cell non-Hodgkin's
lymphomas. MOR208 is an fragment-crystallizable engineered humanized monoclonal antibody with enhanced
antitumor activity that targets CD19 and that may consequently have clinical utility in this setting.
Case presentation: We describe the case of a 33-year-old Caucasian man who presented with a 3-month history of
general symptoms and who was admitted to our pulmonology ward with dyspnea due to pneumonia and severe
anemia. A histopathological examination of an enlarged right suprasternal lymph node confirmed a diagnosis of T-cell/
histiocyte-rich large B-cell lymphoma, an uncommon morphological variant of diffuse large B-cell lymphoma. Our
patient had a complete response to first-line rituximab combined with cyclophosphamide, doxorubicin, vincristine, and
prednisone, but had an early relapse 5 months after the end of treatment. After intensive salvage therapy consolidated
with an autologous stem-cell transplant, our patient again had an early relapse and was subsequently enrolled in a
phase IIa trial of single-agent MOR208. Following a scheduled 3 months of weekly treatment, a partial response was
confirmed and MOR208 was continued as maintenance therapy, with administration every second week. Positron
emission tomography-computed tomography confirmed a complete response 9 months later. This response is ongoing,
with a duration of 24 months. MOR208 was well-tolerated by our patient and his quality of life and performance status
remain high. No hospitalizations were required and our patient engaged in full-time work and physical activities.
Conclusion: Third-line single-agent therapy with the CD19 antibody MOR208 was highly effective in this patient, despite
a history of early relapse after standard first-line and second-line treatment regimens. These data provide support for
future randomized studies of MOR208
Whole-exome sequencing as a tool for searching for genetic background modifiers in MEN1 patients with neuroendocrine pancreatic tumours, including insulinomas
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a monogenic disease caused by inactivating variants in the MEN1 gene. Although the reason for its development is well-known, disease phenotypes are unpredictable and differ even among carriers of the same pathogenic driver mutation. Genetic, epigenetic, and environmental factors may play a role in driving the individual phenotype. Those factors, however, still mostly remain unidentified. In our work, we focused on the inherited genetic background in pancreatic neuroendocrine neoplasms (pNENs) in MEN1 patients, and the pancreatic tumour subgroup with insulinoma.
Material and methods: Whole exome sequencing was performed in MEN1 patients. The symptoms of interest were pancreatic neuroendocrine tumours in one analysis and insulinoma in the second. The study included families as well as unrelated cases. Genes with variants that are not neutral to the encoded gene product were defined in symptom-positive patients as compared to symptom-negative controls. The interpretation of the results was based on functional annotations and pathways shared between all patients with the given symptom in the course of MEN1.
Results: Whole-exome screening of family members and unrelated patients with and without pNENs revealed a number of pathways that are common for all the analysed cases with pNENs. Those included pathways crucial for morphogenesis and development, proper insulin signalling, and structural cellular organization. An additional analysis of insulinoma pNEN patients revealed additional pathways engaged in glucose and lipid homeostasis, and several non-canonical insulin-regulating mechanisms.
Conclusions: Our results show the existence of pathways that are identified in a non-literature-predefined manner, which might have a modifying function in MEN1, differentiating the specific clinical outcomes. Those results, although preliminary, provide evidence of the reasonableness of performing large-scale studies addressing the genetic background of MEN1 patients in determining their individual outcomes
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