Genetic evaluation of patients with Alström syndrome in the Polish population.

Alström syndrome (AS) is a rare syndromic form of obesity and type 2 diabetes (T2D) in children coexisting with retinal dystrophy and disorders of many organs caused by the mutations in ALMS1 gene. Aim of this study was to identify the causative mutations in ALMS1 in a group of 12 patients of Polish origin with clinical symptoms of AS, and their 21 first-degree relatives. Using DNA sequencing, nine different mutations including three novel were identified. These mutations were not present in 212 Polish individuals with no symptoms of AS, subjected to whole-exome sequencing and collected in a national registry. Looking for genotype-phenotype relationships, we confirmed a severe phenotype in a boy with homozygous mutation in exon 16, and a relationship between a presence of T2D and mutations in exon 19. Evaluation of the type of mutation and its clinical effects gives hope for earlier diagnosis of AS in future patients and more advanced therapeutic approaches for patients with already diagnosed AS.

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Oculodentodigital dysplasia (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and digital anomalies. The syndrome is caused by GJA1 mutations. The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. In a Polish child with the clinical symptoms typical of ODDD, we demonstrated a novel missense mutation c.C31A resulting in p.L11F substitution. Our report provides evidence on the importance of this highly conserved amino acid residue for the proper functioning of GJA1 protein.

[Importance of family examination in juvenile X-linked retinoschisis]. / Die Bedeutung der Familienuntersuchung bei der juvenilen Retinoschisis.

BACKGROUND: Congenital (juvenile) retinoschisis belongs to the group of hereditary vitreoretinopathies. This disorder is inherited in an X-linked recessive pattern and its onset usually occurs in 5- to 10-year-old boys. Presenting clinical signs include decreased visual acuity due to maculopathy. CASE REPORT: The authors present a case of a 17-year-old boy with decreased visual acuity, hypermetropia, and bilateral retinoschisis with maculopathy upon fundus examination. In view of a 50% risk of the disorder occurring in the brothers of the affected male, they underwent full ophthalmological and electrophysiological examinations (until then asymptomatic). In one of them decreased visual acuity, mixed astigmatism, and maculopathy were present, without any changes of the peripheral retina. In the youngest brother decreased visual acuity, hypermetropia, and maculopathy were diagnosed. CONCLUSIONS: Genetic counseling and ophthalmological examination of family members at risk facilitated early recognition of the pathological changes in the siblings. Genetic counseling with pedigree analysis and genetic analysis, if possible, should be offered to all affected patients and family members.

Faecal elastase-1 test is superior to faecal lipase test in the assessment of exocrine pancreatic function in cystic fibrosis.

BACKGROUND AND AIMS: Direct tests are characterized by the highest sensitivity and specificity. However, their practical use, especially in children, is limited. Among the indirect tests, the highest sensitivity and specificity was documented for faecal elastase-1 test, yet the value of faecal lipase test in cystic fibrosis (CF) has not been defined. Therefore, the aim of the present study was to compare the sensitivity and the specificity of the faecal lipase test to the faecal elastase-1 test in the assessment of exocrine pancreatic function in children with CF. METHODS: The study comprised 90 CF patients and 95 healthy subjects (HS). In all subjects, faecal elastase-1 concentrations (ELISA) and lipase activities (ELISA) were measured. The presence of pancreatic insufficiency was documented by the determination of faecal fat excretion in 78 pancreatic insufficient and by the secretin-cholecystokinin test in 12 CF patients without steatorrhoea. Sensitivity and specificity of the faecal elastase-1 test and faecal lipase test were analysed and, in 50 HS, sample-to-sample and day-to-day variations were determined. RESULTS: With cut-off levels providing the same specificity for both tests (95.8%), the sensitivity of the faecal elastase-1 test (91.1%) was significantly higher (p < 0.0036) than that of the faecal lipase test (76.7%). Sample-to-sample (mean +/- SEM: 13.2 +/- 1.2% vs 23.4 +/- 2.2%) and day-to-day variations (mean +/- SEM: 16.3 +/- 1.2% vs 32.5 +/- 2.6%) were significantly lower (p < 0.0001) for elastase-1 than for lipase measurements. CONCLUSION: Among indirect tests, faecal elastase-1 test is superior to faecal lipase test in the assessment of exocrine pancreatic function in cystic fibrosis.

Secular changes in body height and weight in children and adolescents in Poznan, Poland, between 1880 and 2000.

AIM: A secular trend in body height and weight is well documented. The first observations concerning this phenomenon in Poland were made at the end of the 19th century. The aim of this study was to assess changes in body height and weight during the 20th century, with special emphasis on the last decade. METHODS: The results of body height and weight measurements obtained in eight subsequent surveys (1880-1886, 1922-1927, 1946-1950, 1960-1961, 1970-1971, 1980-1981, 1990-1991 and 1999-2000) were included in the analysis. Mean values were compared and differences between the surveys were analysed. RESULTS: In general, in the 20th century, children grew taller and heavier and reached final body height and weight more rapidly. The biggest differences in body height and weight in the 20th century, observed at growth spurt, were about 17 cm and 11 kg, respectively, for boys, and 13 cm and 13 kg for girls. The magnitude of secular changes in body height and weight in the 20th century was not stable. There were periods of increased and decreased intensity of acceleration of physical development (the 1950s and 1970s, and the 1960s and 1980s, respectively), as well as a period of deceleration (the 1940s). In the last decade, the tendency has been towards deceleration in most age groups studied. CONCLUSION: The acceleration of physical development in children in Poznan has now ceased.

Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency.

BACKGROUND: Cystic fibrosis (CF) is the most common cause of exocrine pancreatic insufficiency in childhood. The aim of the present study is to evaluate the correlation between genotype and exocrine pancreatic insufficiency in CF patients. The special emphasis was put on the analysis of mild CFTR mutations. DESIGN: The study comprised 394 CF patients and 105 healthy subjects (HS). Elastase-1 concentrations were measured in all subjects. RESULTS: Severe pancreatic insufficiency was associated with the presence of two CFTR gene mutations (DeltaF508, N1303K, CFTR dele 2,3 (21kb), G542X, 1717-1G-A, R533X, W1282X, 621GT, 2183AAG, R560T, 2184insA and DeltaI507, G551D, 895T) and mild insufficiency with the presence of at least one mutation (R117H, 3171insC, A155P2, 138insL, 296 + 1G-A, E92GK, E217G, 2789 + 5G-A. 3849 + 1kbC-T/3849 + 1kbC-T) genotype resulted in high elastase-1-values. However, in case of patients with genotype DeltaF508/3849 + 10kbC-T, 1717-1GA/3849 + 10kbC-T as well as with DeltaF508/R334W, both high and low elastase-1 concentrations were found. Low E1 values were found in a patient with DeltaF508/R347P genotype. CONCLUSION: Patients who carry two 'severe' mutations develop pancreatic insufficiency, whereas those who carry at least one 'mild' usually remain pancreatic sufficient. However, the presence of one mild mutation does not exclude pancreatic insufficiency.

[Evaluation of hearing in children with solid tumors treated by chemotherapy]. / Ocena sluchu u dzieci z guzami litymi w trakcie chemioterapii.

Ototoxicity of cisplatin is documented in during the last years. In material of 13 children with solid tumors (neuroblastoma, nephroblastoma, rhabdomyoscarcoma) treated with cisplatin, ototoxicity was observed in 2 cases. There were presented audiological findings. The role of otoacoustic emission measurements in monitoring of cisplatin--induced ototoxicity was underlined.

[School hygiene in Wielkopolska from 1920 to 1939]. / Osiagniecia naukowe na tle sytuacji organizacyjnej higieny szkolnej w Wielkopolsce w okresie miedzywojennym.

Between The First and The Second World Wars school hygiene was as important as other medical disciplines. In 1922 Stanislow Kopczynski created an act which concerned sanitary demands for schools being built. The importance of the health and growth of children had been noticed. In 1931 there were 8 school doctors working in Poznan. At that time Poznan was one of four centres engaged in research concerning school hygiene (the other being Warsaw, Kraków and Wilno). A School Sanitary Science Department (E. Piasecki), Anthropological Department (A. Wrzosek, M. Cwirko-Godycki) and Orthopedic Clinic (W. Dega), all at Poznan University were involved. The scientific attainments of these departments was regularly presented at school doctors' meetings. A periodical magazine "Physical Education" (E. Piasecki) was published from 1920 to 1933. In 1939 "School hygiene" (M. Cwirko-Godycki) is was being published quarterly.

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gene, and one mutation causing Stickler syndrome and one causing Marshall syndrome have been detected in the COL11A1 gene. We characterize here the genomic structure of the COL11A1 gene. Screening of patients with Stickler, Stickler-like, or Marshall syndrome pointed to 23 novel mutations. Genotypic-phenotypic comparison revealed an association between the Marshall syndrome phenotype and splicing mutations of 54-bp exons in the C-terminal region of the COL11A1 gene. Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome. Some patients, however, presented with phenotypes of both Marshall and Stickler syndromes.

[Anthropometric parameters in assessment of patients with Marfan syndrome or with Marfan phenotype]. / Przydatnosc wybranych parametrów antropometrycznych w ocenie stanu chorych z zespolem Marfana i fenotypem marfanoidalnym.

A series of 37 patients aged 4-64 years has been evaluated with criteria of Lee and Ramirez. Diagnosis of Marfan syndrome has been established in 13 cases, in 24 patients the Marfan phenotype has been found. In both groups body height, upper extremities length, the length of upper and lower body segment, length of the foot and hand have been recorded. Metacarpal index has been calculated. Antropometric measurements did not reveal significant differences in body parts proportions between these two groups.

[Congenital defects as a cause of infant mortality in Zielona Góra province in 1987-1992]. / Wady wrodzone jako przyczyna umieralnosci niemowlat w województwie zielonogórskim w latach 1987-1992.

A total of 1278 children with congenital defects born in Zielona Góra Province between 1987 and 1992 were studied. Of this group, 315 children (24,6%) died. Congenital defects were responsible for 38.1% of these deaths and were the main cause of late infant mortality. Congenital heart defects were the most frequent cause of death. Two hundred and ten (66%) of all of the deaths occurred in the neonatal period. Mortality from congenital defects among low birth weight neonates was twice the overall rate.

[The role of complex diagnostic examination in von Hippel-Lindau disease]. / Znaczenie kompleksowych badan diagnostycznych w chorobie von Hippel-Lindau.

Von Hippel-Lindau disease belongs to phakomatosis. It is a dominantly autosomally inherited disease. The aim of the study was to present and evaluate different methods of diagnostic examinations (computer tomography, magnetic resonance imaging and ultrasonography) in 14 patients with the disease. The results of investigations showed a wide variety of visceral manifestations. All the patients are carefully followed up. Control examinations every six months allow to check for and treat any new pathological changes in the retina.

[Acceleration of physical development in children and adolescents in the city of Poznan in 1880-1990]. / Akceleracja rozwoju fizycznego dzieci i mlodziezy Poznania w latach 1880-1990.

Height and weight measurements taken from children and adolescents in the last century in Poznan show that physical development has accelerated. This is manifested by earlier attainment of larger final body dimensions. This tendency has markedly decreased in the last ten years.

[Trends and intensity of height and weight changes in children and adolescents in the city of Poznan over the last century]. / Kierunki i nasilenie zmian wysokosci i masy ciala dzieci i mlodziezy Poznania w ciagu ostatniego stulecia.

The directions and intensity of accelerated development of children and adolescents from the city of Poznan during the last century are analyzed. Periods of increased (the fifties and seventies) and decreased intensity (the sixties and eighties) can be distinguished, as well as a period of deceleration (corresponding to the second world war).

[Food allergy in pathogenesis of chronic abdominal pain in children]. / Udzial alergii pokarmowej w patogenezie przewleklych bólów brzucha u dzieci.

Food allergy has been implicated lately in the etiopathogenesis of abdominal pain in children, with particular attention pain to gastritis and/or duodenitis. The aim of the study was to analyse the cause-and-effect relationship between chronic abdominal pain in children, endoscopic and histopatological picture, and food allergy, as well as to evaluate the applied elimination diet and/or antiallergic treatment on the improvement of both the clinical status and endoscopic picture. In 71 children gastrofiberoscopic examinations, food skin tests, and specific and total IgE allergen serum tests were performed. In the majority of examined children one could observe an improvement of clinical status and of the endoscopic-histopatological picture of the stomach mucous membrane after application an elimination diet and/or treatment with sodium cromoglycate.

[The occurrence of congenital abnormalities in children under 2 years of age in Zielona Gora province between 1987-1992]. / Wystepowanie wad wrodzonych u dzieci do 2 roku zycia w województwie zielonogórskim w latach 1987-1992.

The analysis encompassed 1278 children under 2 years of age with congenital abnormalities from a group of 60, 815 live-born neonates in Zielona Góra province between 1987-1992. The population prevalence of congenital abnormalities was 2.10% on average. Cardiovascular system abnormalities were the most frequent, making up 40.53% of all detected abnormalities and 0.85% of the analyzed population. The successive positions were abnormalities of: the limbs (15.41% of all detected abnormalities and 0.31% of the analyzed population), genitourinary system (9.08% and 0.19% respectively), central nervous system (7.51% i 0.16%) and digestive system (6.57% and 0.14). There were no statistically significant differences between sexes, towns and villages, jobs of mothers and months of birth. Congenital abnormalities were twice as frequent (4.83%) in low-birth-weight neonates. Deaths caused by congenital abnormalities made 30.9% of total infantile mortality. 66% of children with congenital abnormalities (mainly heart defects) died in first month of life.

[Evaluation of treatment efficacy in gastritis and duodenitis in children with Helicobacter pylori infection]. / Ocena skutecznosci Ventrisolu w leczeniu stanów zapalnych blony sluzowej zoladka i dwunastnicy u dzieci z zakazeniem Helicobacter pylori.

The efficacy of Ventrisol treatment in gastritis and duodenitis in children infected with Helicobacter pylori was evaluated. Eighty-six children aged 3 to 18 years with chronic abdominal pain were examined. All children underwent gastrofiberoscopic examination. H. pylori infection was diagnosed on the bases of two of three diagnostic tests (urease, bacteriological, histological). H. pylori was detected in 50 children (56.4%). After a 4 week course of Ventrisol treatment, H. pylori eradication was obtained in 41 children (82%). Twenty-one children (42%) were completely cured, whereas in 20 children (40%) elimination of HP was observed although macroscopic and histological inflammatory changes were still present. The drug was well tolerated by 92.5% of children and its accumulation was not observed.

[Genetics of congenital color vision defects. I. Common types of color blindness]. / Genetyka wrodzonych zaburzen widzenia barwnego Czesc I: Popularne formy slepoty barwnej.

Normal human colour vision is based on the presence of 3 kinds of cones containing 3 different visual pigments, sensitive to short (blue), middle (green) and long (red) wavelengths. Congenital defects of colour vision are based on handicap or total loss of these pigments' function, usually a result of changes in their coding genes. The common types of colour blindness, referred to red-green axis, are present in about 8% of males and 0.44% of females. 3/4 of them are deuteranopes or deuteranomalous trichromats and 1/4 of them are protanopes or protanomalous trichromats. All of them are inherited in X-linked recessive way. The genes have been already mapped and sequenced. The cause of the great majority of their changes is nonhomologous recombination, which produces a gene deletion or creates the red-green or green-red hybrid genes. The result of that is the production of visual pigment with partly or totally changed spectral sensitivity.