Agnieszka Biczysko-Mokosa

Publications of Agnieszka Biczysko-Mokosa

• Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.

  Authors: Elzbieta Petriczko, Agnieszka Biczysko-Mokosa, Joanna Bogdanowicz, Maria Constantinou, Elzbieta Zdziennicka, Anita Horodnicka-Jozwa, Ewa Barg, Sylwia Gawlik-Zawislak, Anna Sulek-Piatkowska, Grazyna Dawid, Mieczysław Walczak, Karolina Pesz, Andrzej Kedzia, Stanislaw Zajaczek

  American journal of medical genetics. Part A. 05/2012;

  We present a boy diagnosed with partial 3p monosomy and partial 4q trisomy. The patient was 9 years of age with intellectual disability, dysmorphic features, and ataxia. A family history and medicalWe present a boy diagnosed with partial 3p monosomy and partial 4q trisomy. The patient was 9 years of age with intellectual disability, dysmorphic features, and ataxia. A family history and medical evaluation showed that the father manifested similar facial dysmorphic features, intellectual disability, quadriparesis, and progressive cerebrospinal ataxia. The chromosomal aberration found in the proband was inherited from his father who was found to have a balanced reciprocal translocation of chromosomes 3p and 4q, which was in turn inherited from the paternal grandfather. The final cytogenetic diagnosis according to microarray was 46,XY,der(3)t(3;4)(p26.1;q32.2)arr 3p26.1(39,066-5,363,502)x1,4q32.2q35.2(162,555,236-191,173,881)x3. We describe the cytogenetic investigations that led to the identification of the breakpoints. In addition, we present an overview of the clinical features found in patients with partial 3p monosomies and partial 4q trisomies as reported in the literature. © 2012 Wiley Periodicals, Inc.

• [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.

• A fetal dilated and hypertrophic cardiomyopathy associated with maternal gestational diabetes--a case report.

  Authors: Grażyna Dawid, Jerzy Węgrzynowski, Monika Kwiatek, Agnieszka Biczysko-Mokosa, Elżbieta Petriczko, Anita Horodnicka-Józwa

  Pediatric endocrinology, diabetes, and metabolism. 01/2010; 16(2):123-5.

  There is an increased risk of a hypertrophic cardiomyopathy and congenital heart defects among newborns of diabetic mothers. We report a case of hypertrophic cardiomyopathy preceded with dilatedThere is an increased risk of a hypertrophic cardiomyopathy and congenital heart defects among newborns of diabetic mothers. We report a case of hypertrophic cardiomyopathy preceded with dilated cardiomyopathy in a fetus of a diabetic mother. The fetal echocardiography at the 23rd week of gestation revealed signs of dilated cardiomyopathy with signs of cardiac failure. Under the echocardiographic monitoring the successful treatment was performed. In spite of poor prognosis, the child was born at the 39th gestation week in a good condition.

• [Diabetes in pregnancy: cord blond insulin level and neonatal outcome in relation to maternal glycated haemoglobin A1c in last trimester of pregnancy].

  Authors: Grazyna Dawid, Anita Horodnicka-Józwa, Elzbieta Petriczko, Agnieszka Biczysko-Mokosa

  Pediatric endocrinology, diabetes, and metabolism. 01/2009; 15(4):253-9.

  The pattern of the complications observed in the foetus and newborn of diabetic mothers has been changed owing to improvement of care and treatment. Due to the introduction of the Saint VincentThe pattern of the complications observed in the foetus and newborn of diabetic mothers has been changed owing to improvement of care and treatment. Due to the introduction of the Saint Vincent Declaration goals, the improvement in prognosis of diabetic mothers has been noted. The goals are being pursued in our country. The aim of the study was to evaluate whether there is an association between maternal glycated haemoglobin, cord blood insulin level and general condition in infants of diabetic mothers. In the study 158 newborns of diabetic mothers (86 G1, 56 G2, 16 P) and 171 newborns of the healthy mothers were evaluated. In the newborns of diabetic mothers venous cord blood samples were collected at delivery and analyzed for insulin and fructosamine level in relation to the maternal glycated haemoglobin. The mean birth weight was significantly different between the control group 2885 +/- 905 g and the diabetic group 3199 +/- 617 g. The positive correlation between cord blood insulin level and birth weight in the diabetic group was observed; that indicates the higher fetal insulinemia influence on increased birth weight. Neither the correlation between birth weight and fructosamine nor birth weight and glycated haemoglobin were found. The mean glycated hemoglobin level was 5.17% (G1 5.15%, G2 5.18%, P 5.30%). There is an association between cord blood insulin level in infants of diabetic mothers and birth weight. Increased insulin level is correlated with hypoglycemia. The incidence of cesarean section, macrosomia, hypoglycemia, hyperbilirubinemia in the study group was not different in comparison to control subject.