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.

[Congenital fructose intolerance diagnosed in a 13-year-old boy]. / Wrodzona nietolerancja fruktozy rozpoznana u 13-letniego chlopca.

We describe the case of 13 year old boy who was admitted to the hospital in order to find the reason of hepatomegaly and increased echogenicity observed in sonography. The thorough anamnesis revealed aversion to products containing fructose and thus hereditary fructose intolerance appeared the most probable in this case. The preliminary diagnosis was confirmed by oral fructose tolerance test.

[The development of hydrocephalus after intracranial hemorrhage in an infant with meningoencephalitis]. / Rozwój wodoglowia po krwawieniu do osrodkowego ukladu nerwowego u niemowlecia z zapaleniem opon mózgowo-rdzeniowych i mózgu.

The present paper describes the case of hydrocephalic infant resulting from the intracranial haemorrhage with coexisting meningitis. The evolution of brain changes in sonography is shown.

[Tracheal neurofibroma in a 10-year-old girl]. / Nerwiakowlókniak tchawicy u 10-letniej dziewczynki.

A rare case of the tracheal tumor with its recurrencies in 10 years old girl was described. The diagnostic difficulties were also discussed.

[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.

[Birth weight and motor development of infants with Turner's syndrome]. / Urodzeniowy ciezar ciala i podstawowe funkcje statyczno-motoryczne okresu niemowlecego w zespole Turnera.

There were analysed 61 cases of Turner's syndrome, in this group--48 cases with 45,X karyotype. Author confirmed, that mean birth weight of these children was lower (2920 g), than in healthy girls (3400 g), especially in cases with 45,X karyotype (2894 g). The 1st birth order in 45,X cases decreased birth weight of these children (mean 2693 g). The most retardation of motor development--3 months--in locomotion was observed. Between two genotype groups 45,X (mean 2894 g) and 45,X/46,XX (mean 3015 g) the difference was statistically significant.

[Rieger's syndrome in a 12 year old girl]. / Zespól Riegera u 12-letniej dziewczynki.

The authors presented a case of Rieger syndrome with typical sings and symptoms. Genetic conditionings and differentiation, especially with Axenfeld syndrome, were shown. The therapeutic problems with secondary glaucoma and the applied methods of successful pharmacological and surgical treatment were described.

[Indices of development in children and adolescents of Poznan aged 3 through 18]. / Wskazniki rozwoju fizycznego dzieci i mlodziezy miasta Poznania w wieku od 3 do 18 lat.

Mean values and standard deviations of the body weight and height were calculated for the particular age and sex groups od children and adolescents aged between 3 and 18 years in Poznan. The calculations were based on the results of examinations of 12,669 children: 6,941 girls and 5,728, i.e. 11% of the total population in Poznan (highly representative sample). Percentile nets and weight-height proportion nets were constructed.

[Accelerated physical development of children and adolescents in Poznan]. / Akceleracja rozwoju fizycznego dzieci i mlodziezy miasta Poznania.

The results of body height and weight measurements of 12,669 children and adolescents aged between 3 and 18 years carried out in the school year 1980/81 were compared with the measurements of the same features performed in the school population in Poznan during the last 100 years. A phenomenon of the physical development acceleration was confirmed, being a base for temporary actualization of the developmental standards.

[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.

[Genetics of congenital color vision defects. II. Rare types of color blindness]. / Genetyka wrodzonych zaburzen widzenia barwnego Czesc II: Rzadkie formy slepoty barwnej.

Between the rare types of colour blindness, the known best are defects of blue colour vision, which are called tritanopia or trinanomaly (tritanomalous trichromacy). Their incidence is 1 in 500 and they are inherited in autosomal dominant way with incomplete penetrance. The basis of them are mutations of the short (blue) wavelength sensitive visual pigment gene. The gene has been mapped on the chromosome 7 and has already been cloned and sequenced. However, the loci heterogeneity should not be excluded in that condition. Another rare type of colour blindness in blue cone monochromacy. It is based on the cone sensitivity to short (blue) wavelength only. The condition is inherited in X-linked recessive way and it is known, that it can be caused by 2 different mechanisms. The first one--two-step pathway--consists of green cone pigment gene deletion, and point mutation of red cone pigment gene. The second one--one-step pathway--arose by deletion of regulatory sequence of both genes of visual pigments, mapped on the X chromosome. Different types of total and partial achromatopsia are also described. The best known ones are: rod monochromacy, which is inherited in autosomal recessive way and consist of rod vision only, and cone dystrophy, usually inherited in X-linked recessive way.

[Genetic basis of Leber's hereditary optic neuroretinopathy]. / Podloze genetyczne zaniku nerwów wzrokowych typu Lebera.

Basic information about mitochondrial inheritance have been presented. The nature of inheritance of Leber's hereditary optic neuroretinopathy (LHON) has been described. The recent reports about heterogeneity of mutations, heteroplasm and nucleo-mitochondrial interaction have been taken into consideration. Principles of modern genetic diagnostics and counselling of LHON have been described.

[Genetic heterogeneity of retinitis pigmentosa]. / Genetyczna heterogennosc retinitis pigmentosa.

The authors present a classification of retinitis pigmentosa (rp) based on the modes of inheritance. Known genetic conditions of autosomal recessive, X-linked recessive and autosomal dominant forms of rp are shown, presenting molecular principles of the illness. They also describe clinical subtypes of rp with suggested genotype-phenotype correlations and principles of modern genetic diagnostics and genetic counselling.

[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).

[Sex chromatin in sex determination and the diagnosis of gonadal differentiation disorders in children]. / Chromatyna plciowa w diagnostyce zaburzen determinacji plci i róznicowania gonad u dzieci

PIP: 350 children, aged from 1 day to 20 years, were given determinations of the level of sex chromatin as a preliminary determination of sex and gonadal differentiation. 150 were initially diagnosed with Turner's syndrome, 114 with Klinefelter's syndrome, 50 cases with hermaphroditism, and 27 with suspected aberration X. Discrepancies between the content of sex chromatin and the accepted sex were found in 47 of the cases of Turner's syndrome, in 21 cases of Klinefelter's syndrome, and in 3 cases of androgenital syndrome, 3 of Morris's syndrome, 3 of testicular dysgenesia, and in 1 case of scrotal hypospadia. Determination of sex chromatin was found useful for the diagnosis of height deficiency and delayed maturation, of eunuchoid physique in boys, for infants with abnormal external genitals, and in hormonally unexplained (extra adrenal) virilization syndromes in females.^ieng

[Genetically determined retinoblastoma]. / Genetyczne uwarunkowania siatkówczaka.

The modern view for the mechanisms of retinoblastoma origination, based on the tumor suppressor genes theory, has been described in this work. The structure and function of the retinoblastoma gene and its protein product, with reference to the cell cycle, has been presented. On the ground of this data, possibilities of genetic molecular diagnostics and principles of competent genetic counselling have been described.

[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.