Search for dissertations about: "syndrome I"

Showing result 1 - 5 of 896 swedish dissertations containing the words syndrome I.

2. 1. Down syndrome : Growth and endocrine impact

   Author : Åsa Myrelid; Jan Gustafsson; Göran Annerén; Ann-Christine Lindgren; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Down syndrome; growth; growth charts; body proportions; growth hormone; thyroid function; metabolism; body composition; cognition; motor development; Downs syndrom; tillväxt; tillväxtkurvor; kroppsproportioner; tillväxthormon; sköldkörtelfunktion; metabolism; kroppssammansättning; kognitiv förmåga; motorisk utveckling; Paediatric medicine; Pediatrisk medicin; pediatrik; Pediatrics;

   Abstract : Down syndrome (DS) is associated with psychomotor retardation, short stature and endocrine dysfunction. Statural growth is a well-known indicator of health. The growth in DS differs markedly from that of other children and there is a 20 cm reduction of final height as compared to target height. READ MORE

4. 2. Respiratory distress syndrome aspects of inhaled nitric oxide, surfactant and nasal CPAP

   Author : Robert B I Lindwall; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Nitric oxide; Nitrogen dioxide; Pulmonary surfactants; Respiratory therapy; Inhalation exposure; Administration; Inhalation; Continuous Positive Airway Pressure;

   Abstract : Respiratory distress syndrome (RDS) still represents one of the main problems in the treatment of premature infants. Despite the use of surfactant replacement therapy RDS adds to the need for endotracheal intubation and mechanical ventilation (M). READ MORE

5. 3. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

   Author : Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Long QT Syndrome; Jervell and Lange-Nielsen Syndrome; inherited arrhythmia; founder effects; clinical genetics; haplotype analysis; mutation age; founder mutation; clinical phenotype; life-threatening cardiac events; mutation-specific; KCNQ1 gene; modifier genes; sequence variants; risk stratification; risk factor; gender; pediatrik; Pediatrics;

   Abstract : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. READ MORE

6. 4. Autism syndromes in three behavioural phenotype conditions. A clinical psychiatric study of 76 individuals with Möbius sequence, CHARGE syndrome, and oculo-auriculo-vertebral spectrum

   Author : Maria E I Johansson; Göteborgs universitet; []
   Keywords : autism syndromes; behavioural phenotype conditions; Möbius; CHARGE; OAV; ADI-R; CARS; ABC; brain stem;

   Abstract : AUTISM SYNDROMES IN THREE BEHAVIOURAL PHENOTYPE CONDITIONS A clinical psychiatric study of 76 individuals with Möbius sequence, CHARGE syndrome, and oculoauriculovertebral spectrum Maria Johansson Institute of Neuroscience and Physiology, Child and Adolescent Psychiatry, Göteborg University, Sweden Abstract Objectives: (1) Examine the prevalence of autism syndromes in three different Behavioural Phenotype Conditions (BPCs), (2) examine background and associated factors/conditions, and (3) describe and evaluate diagnostic difficulties in this field of research. Method: As part of multidisciplinary surveys of Möbius sequence (Möbius) (n=25), CHARGE syndrome (CHARGE) (n=31) and oculoauriculovertebral spectrum (OAV) (n=20), the occurrence of autism symptoms was assessed utilizing the DSM-III-R and DSM-IV checklists for autistic disorder (AD), the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behavior Checklist (ABC). READ MORE

7. 5. Polyglandular Autoimmune (PGA) Syndromes and associations to sarcoidosis

   Author : Konstantinos I Papadopoulos; Malmö Institutionen för kliniska vetenskaper; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; angiotensin converting enzyme ACE ; DQB1; DRB1; HLA; H K ATPase; antigliadin; autoantibodies; pernicious anaemia; coeliac disease; sarcoidosis; Hashimoto thyroiditis; Graves disease; autoimmune thyroid disease; Addison s disease; Polyglandular autoimmune PGA syndromes; autoimmunity; ACE gene polymorphism; Immunology; serology; transplantation; Immunologi; serologi;

   Abstract : Polyglandular Autoimmune (PGA) syndrome type II in idiopathic Addison's disease: In a retrospective study of idiopathic Ad-dison's disease (median age at diagnosis 32.5 years, range 8-62; median observation time 17 years, range 0.5-41), 50% met the criteria for PGA syndrome type II. In PGA syndrome type II, 73% had ATD and 41% had IDDM. READ MORE