Justyna Szmit-Domagalska

Publications of Justyna Szmit-Domagalska

• [The "heart-hand" syndrome in a 8-year-old-boy with short stature].

  Authors: Elzibieta Petriczko, Anita Horodnicka-Józwa, Piotr Prowans, Agnieszka Biczysko-Mokosa, Justyna Szmit-Domagalska, Grazyna Dawid, Mieczysław Walczak, Stanisław Zajaczek

  Wiadomości lekarskie (Warsaw, Poland : 1960). 01/2011; 64(1):15-21.

  "Heart-hand" syndrome is a broad category of diseases. The most common form is Holt-Oram syndrome (HOS) that occurs in approximately 1:100 000 live births. It is characterized by upper limb defects"Heart-hand" syndrome is a broad category of diseases. The most common form is Holt-Oram syndrome (HOS) that occurs in approximately 1:100 000 live births. It is characterized by upper limb defects (carpal bone defects, triphalangeal thumbs, hypoplasia or absence of the thumb and the radial ray) and cardiac septal defects (atrial septal defects or ventricular septal defects). There are three main types of "heart-hand" syndromes. "Heart-hand" syndrome type I--HOS is characterised by atrial septal defect and thumb anomaly, type II (Tabatznik syndrome) by short distal phalanx of the thumb, upper limb abnormalities and cardiac arrhythmias, type III by cardiac conduction diseases and shortening of the middle phalanges. The aim of this report is to present a new case of the "heart-hand" syndrome in the family. This diagnosis was established on the base of clinical examination, radiological findings, and echocardiography. Our patient demonstrates congenital bilateral absence of a radial bone and thumbs, dextrocardia and patent foramen ovale.

• [Prognostic value of the L-Dopa and clonidine GH stimulation tests in patients with endogenous growth hormone deficiency - retrospective analysis after discontinuation of treatment - own experience.]

  Authors: Elzbieta Petriczko, Justyna Szmit-Domagalska, Anita Horodnicka-Józwa, Mieczysław Walczak

  Endokrynologia, diabetologia i choroby przemiany materii wieku rozwojowego : organ Polskiego Towarzystwa Endokrynologów Dziecięcych. 02/2009; 15(1):13-9.

  Introduction: Assessment of growth hormone (GH) deficiency in short children is still limited with complicated and heterogeneous scheme of the diagnostic tests. The aim of the study: was to estimateIntroduction: Assessment of growth hormone (GH) deficiency in short children is still limited with complicated and heterogeneous scheme of the diagnostic tests. The aim of the study: was to estimate a prognostic importance of the GH stimulation tests (L-Dopa and clonidine) in patients with severe (sGHD) and partial growth hormone deficiency (pGHD). The results of growth hormone treatment (rhGH) were analyzed in the both groups. Material and methods: The study group consists of 41 children, which used to be treated with rhGH. An insulin test was performed and according to the results two subgroups were distinguished: sGHD - n=11 and pGHD - n=30. Results: Assessment of the growth velocity (GV) in the firstyear of therapy in the whole study group was 9.0+/-2.6 cm/years (GVSD=4.5+/-4.0). The final height (FH) in the whole group amounted to htSD=-1.2+/-1.1. In the whole group a statistically important negative correlation was found between max GH peakin the insulin test and GV during the firstyear of treatment (r=-0.32 p=0.039) and between maxGH peak in the insulin test and final height standard deviation score (r=-0.36; p=0.02). A significant positive correlation was detected between max GH peak in the insulin test and max GH peak in the L-Dopa test (r=0.35; p=0.03). No analogical correlation was observed in the clonidine test. A statistically important negative correlation was found between max GH peak in the L-Dopa test and patient's final height (r=-0.41; p=0.011). The final height was positively correlated with GV in the first year of treatment (r=0.42; p=0.005). Conclusions: L-Dopa test provides better results in determining GH pituitary reserve than the clonidine test. Patients with sGHD responded better to treatment with rhGH and their final height corresponds more closely to the population norm. A prognostic factor connected with the final results of treatment is also the rate of GV in the first year of treatment.

• [An abdominal inflammatory pseudotumor in a 9-year-old girl with newly diagnosed diabetes mellitus type 1--a case report].

  Authors: Adela Nurczyńska, Elzbieta Petriczko, Anita Horodnicka-Józwa, Anita Kosierkiewicz, Agata Jankowska, Justyna Szmit-Domagalska, Grazyna Dawid, Elzbieta Urasińska, Walczak Mieczysław

  Pediatric endocrinology, diabetes, and metabolism. 01/2009; 15(4):271-4.

  An inflammatory tumor is a rare, benign pathology with a variable natural course. The hypotheses of the etiology of the inflammatory tumor are associated with trauma, infections or the immuneAn inflammatory tumor is a rare, benign pathology with a variable natural course. The hypotheses of the etiology of the inflammatory tumor are associated with trauma, infections or the immune mechanisms. To our knowledge, in the literature are described some single cases of solid omental and peritoneal masses as an uncommon cause of abdominal lump in children. We describe a case of a 9-year-old girl with clinical symptoms at onset of type 1 diabetes and accidentally diagnosed omental and peritoneal tumor.

• [Clinical similarity and diagnostic difficulties in differentiation of diabetes mellitus type 1 and type 2 in adolescence - case report.]

  Authors: Elzbieta Petriczko, Anita Horodnicka-Józwa, Iwona Ostrowska, Justyna Szmit-Domagalska, Krystyna Wójcik, Teresa Adamczyk, Mieczysław Walczak

  Endokrynologia, diabetologia i choroby przemiany materii wieku rozwojowego : organ Polskiego Towarzystwa Endokrynologów Dziecięcych. 02/2008; 14(2):119-23.

  The authors would like to present the difficulties in differentiation of diabetes mellitus type 1 and type 2 in adolescence on the basis of two 17 years-old patients. In both patients' cases theThe authors would like to present the difficulties in differentiation of diabetes mellitus type 1 and type 2 in adolescence on the basis of two 17 years-old patients. In both patients' cases the following symptoms: polydipsia, polyuria and weight loss with hyperglycemia and glycosuria have been observed for a few months. During laboratory studies some additional abnormalities were observed: elevated HbA1c, dyslipidemia and high level of liver enzymes. Normal level of insulin as well as C-peptide lack of ketonuria and negative parameters of autoimmunologic reaction the supported diagnosis of diabetes mellitus type 2. Due to insulin therapy and metformin a correct level of glycemia was achieved. Conclusion: Decompensated diabetes mellitus type 2 in adolescents may be difficult to differentiate with type 1.