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A Kaminska

Publications and source records attributed to A Kaminska.

At least 19 recordsLinked to original sources
PubMed2006

Dissecting a wheat QTL for yield present in a range of environments: from the QTL to candidate genes.

Previous studies with 95 bread wheat doubled haploid lines (DHLs) from the cross Chinese Spring (CS)xSQ1 trialled over 24 yearxtreatmentxlocations identified major yield quantitative trait loci (QTLs) in homoeologous locations on 7AL and 7BL, expressed mainly under stressed and non-stressed conditions, respectively. SQ1 and CS contributed alleles increasing yield on 7AL and 7BL, respectively. The yield component most strongly associated with these QTLs was grains per ear. Additional results which focus on the 7AL yield QTL are presented here. Trials monitoring agronomic, morphological, physiological, and anatomical traits revealed that the 7AL yield QTL was not associated with differences in flowering time or plant height, but with significant differences in biomass at maturity and anthesis, biomass per tiller, and biomass during tillering. In some trials, flag leaf chlorophyll content and leaf width at tillering were also associated with the QTL. Thus, it is likely that the yield gene(s) on 7AL affects plant productivity. Near-isogenic lines (NILs) for the 7AL yield QTL with CS or SQ1 alleles in an SQ1 background showed the SQ1 allele to be associated with >20% higher yield per ear, significantly higher flag leaf chlorophyll content, and wider flag leaves. Epidermal cell width and distance between leaf vascular bundles did not differ significantly between NILs, so the yield-associated gene may influence the number of cell files across the leaf through effects on cell division. Interestingly, comparative mapping with rice identified AINTEGUMENTA and G-protein subunit genes affecting lateral cell division at locations homologous to the wheat 7AL yield QTL.

Alleles↗
PubMed2006

2,9-Dimethyl-beta-carbolinium, a neurotoxin occurring in human brain, is a potent inducer of apoptosis as 1-methyl-4-phenylpyridinium.

The causes of neurodegeneration are not well understood. However, the role of environmental and endogenous toxins is receiving much attention. In this study, we compared the synthetic neurotoxin 1-methyl-4-phenyl-pyridinium with beta-carbolines occurring in human brain. Methylation of both nitrogens is necessary to convert a beta-carboline into a potent inhibitor of mitochondrial complex I. The respective beta-carboline, 2,9-dimethyl-beta-carbolinium ion is neurotoxic in rats. To investigate the underlying mechanisms, we incubated mouse neuroblastoma 2A cells with 2,9-dimethyl-beta-carbolinium ion, and compared the findings with effects of norharman, the precursor beta-carboline of methylated derivatives, and with 1-methyl-4-phenyl-pyridinium. 2,9-Dimethyl-beta-carbolinium ion caused a significant increase of reactive oxygen species (higher efficiency than 1-methyl-4-phenyl-pyridinium) and of mitochondrial membrane potential within the first minutes. After 60 min, the membrane potential dissipated. Concomitantly, the levels of glutathione increased in 2,9-dimethyl-beta-carbolinium ion but not in 1-methyl-4-phenyl-pyridinium treated cells. After 24 h effector caspases 3 and 7 were activated and the number of apoptotic cells increased as revealed by fluorescence-activated cell sorting cytometry. When incubated longer (48 h), cells underwent late apoptosis/secondary necrosis as shown by fluorescence-activated cell sorting analysis and confirmed qualitatively by an electron microscopy study. The effects of 2,9-dimethyl-beta-carbolinium ion on apoptotic changes were similar to those induced by 1-methyl-4-phenyl-pyridinium(,) while norharman showed only a weak potency at the very high doses. To investigate whether 2,9-dimethyl-beta-carbolinium ion is neurotoxic under in vivo conditions and whether only dopaminergic neurones are affected we conducted a dose-response study. Three weeks after injection of 2,9-dimethyl-beta-carbolinium ion in the substantia nigra we found a dose-dependent decrease of dopamine and its metabolites in the striatum of rats. The levels of 5-hydroxytryptamine were diminished although the decrease was less. The levels of noradrenaline increased after some doses. The findings strongly suggest an important role of endogenous beta-carbolines in neurodegeneration with apoptosis as the predominant mechanism.

1-Methyl-4-phenylpyridinium↗
PubMed2005

[Neonatal epilepsy and inborn errors of metabolism].

Metabolic disorders constitute an important cause of neurologic disease, including neonatal epilepsy. Epilepsy rarely dominates the clinical presentation, which is more frequently associated with other neurologic symptoms, such as hypotonia and/or vigilance disturbances. In most cases, epilepsy secondary to inherited metabolic disorders presents with polymorphic clinical and electrographic features that are difficult to classify into precise epileptic syndromes. However, specific types of seizures, such as myoclonic seizures or distinctive electroencephalographic patterns, such as suppression burst patterns, epileptic syndrome or early myoclonic encephalopathy, may suggest a specific metabolic disease. The aim of this article is to help clinicians in reviewing potential metabolic diagnoses and approaching metabolic evaluations.

Age Factors↗
PubMed2005

Helicobacter pylori infection and serum gastrin, ghrelin and leptin in children of Polish shepherds.

OBJECTIVE: Family unit is generally accepted as one of the contributors to Helicobacter pylori infection that is most frequently acquired in childhood, so it seems logical to diagnose and treat this infection in childhood. This study was designed to assess H. pylori prevalence in children from shepherd families having contacts with sheep. MATERIAL AND METHODS: This study involved 146 children (58 M/88 F, age 6-17 years; mean: 10.2 years) from families living in Polish Tatra Mountains with contact (group A, n=58) or without contact with sheep (group B, n=88). H. pylori status was determined by (13)C-urea breath test and was compared to 141 age- and gender-matched urban controls (group C). In both groups of mountain children, the anti-H. pylori and anti-CagA IgG were measured by ELISA and serum gastrin, ghrelin and leptin concentrations by RIA. RESULTS: The H. pylori prevalence in group A was significantly higher (58.6%) than that in group B (21.6%) and urban controls (26%). Serum gastrin concentrations were significantly higher in H. pylori-positive than in H. pylori-negative mountain children (52.2+/-5.8 pmol/L versus 22.7+/-2.1 pmol/L), while serum ghrelin and leptin concentrations were significantly lower in H. pylori-infected (741+/-112 pg/mL and 3.6+/-0.8 ng/mL) than in non-infected children (1323+/-104 pg/mL and 8.6+/-2.4 ng/mL). CONCLUSIONS: Children with sheep contact show about twice higher H. pylori prevalence and higher serum gastrin but lower ghrelin and leptin levels than those without H. pylori infection. Considering almost 100% positive 13C-urea breath test in sheep, it is reasonable to propose that H. pylori infection in shepherd children may originate from sheep and the infection might, therefore, be considered as zoonosis.

Adolescent↗
PubMed2005

[Epilepsy in chromosome aberrations].

Epilepsy is among the most frequent finding in many chromosome aberrations. While most chromosome aberrations can be associated with different seizure types, there are few aberrations which feature specific seizures and EEG patterns. Among the 400 different chromosomal imbalances described with seizures and EEG abnormalities, eight have a high association with epilepsy. These comprise: the monosomy 1p36, Wolf-Hirschhorn syndrome (4p-), Angelman syndrome, Miller-Dieker del 17p13.3, the inversion duplication 15 syndrome, ring 20 and ring 14 syndromes, Down's syndrome. These chromosomal regions where aberrations have an evident association with epilepsy may be useful targets for gene hunters. On the other hand, a better characterisation of epileptic syndrome in these disorders may lead to a better and specific treatment.

Child↗
PubMed2004

[Eligibility for epilepsy surgery in children: review of the literature].

We reviewed current literature about eligibility criteria for epilepsy surgery in children. Surgical treatment of epilepsy in childhood is increasing due to major advances in structural and functional imaging as well as EEG monitoring and surgical techniques. Recently, pediatric surgical outcome became similar to those reported for adults. The selection of children requires a multidisciplinary team evaluating intractability, operability and relative risks and benefits. The eligibility criteria are similar to those in adults, but there are age-related differences: number of epileptic syndromes, etiologies, vulnerability and plasticity of the developing brain. Until now, no randomized prospective studies comparing medical and surgical treatment or the different pre-surgical evaluation approaches has been performed in children. The benefit of surgery in child epilepsy has been determined by either referring to results obtained in adults or by comparing surgery outcome to the natural history of the disease. Many retrospective studies in childhood report post-surgical results comparing the seizure outcome, quality of life and the neuropsychological evaluation before and after surgery. The authors of these studies examined retrospectively the predictive factors of favorable outcome and defined the best selection criteria for surgery.

Adolescent↗
PubMed2003

Prevalence of Helicobacter pylori infection in Polish shepherds and their families.

BACKGROUND: Helicobacter pylori infection might, in some instances, be considered as zoonosis. AIM: The aim of this study was to assess the H. pylori prevalence in Polish shepherds and in their families as compared to controls. Patients and methods. A total of 42 shepherds from Polish Tatra Mountains with regular contact with sheep, 28 members of their families with incidental contacts and 61 age- and gender-matched farmer controls without such contacts were involved in this study. H. pylori status was determined by 13C-urea breath test. Serology was used to measure anti-H. pylori and anti-CagA IgG. Plasma gastrin, interleukin-8 and tumor necrosis factor-alpha were also determined. RESULTS: The H. pylori prevalence reached 97.6% in shepherds, 86% in their family members, but significantly less, 65.1%, in controls without contact with sheep. Anti-H. pylori IgG, anti-CagA in contact groups were significantly higher than in controls. Also, plasma gastrin, interleukin-8 and tumor necrosis factor-alpha had significantly higher values as compared to controls. CONCLUSIONS: Shepherds showed almost 100% H. pylori prevalence and higher incidence of CagA seropositivity, plasma gastrin and pro-inflammatory cytokine levels. Considering 100% positive 13C-urea breath test in sheep, it may be reasonable to suggest that H. pylori infection in shepherds and their family members originates from sheep and H. pylori infection might, therefore, be considered as zoonosis.

Adult↗
PubMed2003

Ictal SPECT in children with epilepsy: comparison with intracranial EEG and relation to postsurgical outcome.

In order to validate the ability of ictal single photon emission computed tomography (SPECT) to localize the epileptogenic zone (EZ) in children, we compared in 20 patients aged from 10 months to 17 years (mean 6.5 years) the topography of the area of increased ictal perfusion (IPA), determined on the basis of ictal minus interictal scan values, with that of the EZ determined by intracranial EEG recordings and assessed its relationship with the postsurgical outcome. Eighteen patients had symptomatic epilepsy and 10 had extratemporal epilepsy. All patients except one had an ictal injection (mean time lag from clinical seizure onset was 18 s). Ictal and interictal SPECT images were successively co-registered, normalized, subtracted, smoothed and superimposed on MRI. All patients with ictal injection exhibited one or several IPAs. The topography of the 'highest' IPA, i.e. the maximal cerebral blood flow (CBF) change between ictal and interictal SPECT, significantly colocalized with the site of onset of the discharge, and that of the lower IPAs with that of the area of propagation (P < 0.0001). At a threshold of 30% of the maximal CBF change, the IPAs detected the onset of the discharge with a sensitivity of 0.80 and a specificity of 0.70. The highest IPA localized the EZ in 12 out of 15 patients. In the three others it missed the EZ and showed the area of propagation because of rapid seizure propagation or of infraclinical seizure onset. Among the patients with favourable surgery outcome, the highest IPA colocalized with the resected area in 70% of cases. Ictal SPECT could therefore plays an important role as a non-invasive presurgical method of investigation by optimizing the placement of intracranial electrodes, thus improving the postsurgery outcome of paediatric partial epilepsy.

Adolescent↗
PubMed2002

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures.

A recent genome-wide scan revealed suggestive evidence for two susceptibility loci for idiopathic generalized epilepsy (IGE) in the chromosomal regions 5p15 and 5q14-q22 in families with typical absence seizures. The present replication study tested the validity of the tentative IGE loci on chromosome 5. Our study included 99 multiplex families in which at least one family member had typical absence seizures. Parametric and non-parametric multipoint linkage analyses were carried out between the IGE trait and 23 microsatellite polymorphisms covering the entire region of chromosome 5. Multipoint parametric heterogeneity lod scores < -2 were obtained along chromosome 5 when a proportion of linked families greater than 50% was assumed under recessive inheritance and > 60% under dominant inheritance. Furthermore, non-parametric multipoint linkage analyses revealed no hint of linkage throughout the candidate region (P > 0.05). Accordingly, we failed to support previous evidence for common IGE loci on chromosome 5. If there is a susceptibility locus for IGE on chromosome 5 then the size of the effect or the proportion of linked families is too small to detect linkage in the investigated family sample.

Chromosome Mapping↗
PubMed2001

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.

Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in 70-85% of RTT cases. We report here five novel frameshift mutations (named 345delC, 895del202, 989ins18del8, 996insAG and 1124del53) in exon 3 and 4 of the MECP2 gene. To avoid the missing of few small deletions in RTT patients using classical mutation screening approaches, we suggest that screening of the mutations in the MECP2 gene in RTT girls should include at least a large PCR to amplify exon 4 entirely.

Chromosomal Proteins, Non-Histone↗
PubMed2001

Functional imaging in the work-up of childhood epilepsy.

In children with medically intractable lesional epilepsy, surgery is deemed successful if the epileptogenic focus can be removed while major neurological functions are spared. Current techniques rely on invasive intracranial recordings. The new developments in functional imaging offer the possibility of localizing the epileptogenic focus noninvasively (PET/SPECT) and mapping cognitive functions (fMRI). Ictal SPECT shows hyperperfusion in the focus and has proved to have better localizing value than interictal PET or SPECT, which show focal hypometabolism or hypoperfusion. Ictal SPECT is useful for deciding on the placement of intracranial electrodes in extratemporal epilepsies, particularly in young children. Functional MRI has proved highly accurate for localizing motor and language networks, thus offering the possibilities of replacing the Wada test (language hemispheric lateralization) and studying postlesional brain plasticity. Despite the difficulties of functional imaging in children owing to the limited cooperation that can be expected, ethical constraints, and poor normative data, SPECT/PET and fMRI provide clinically useful information for presurgical work-up of childhood epilepsies.

Adolescent↗
PubMed2001

Ictal perfusion changes during occipital lobe seizures in infancy: report of two serial ictal observations.

Serial-ictal single-photon-emission computed tomography (SPECT) examinations are presented in two infants (ages 1 and 2 years), with early ictal and ictal in one, and ictal and late ictal images in the other. Both had pharmacoresistant occipital epilepsy, due to focal cortical dysplasia. In the first case, size of ictal hyperperfusion increased in the course of the seizure from early ictal to ictal state. A concomitant ictal hypoperfusion was observed around the hyperperfused area. In the second patient, there was a dramatic difference between ictal and late ictal images. In the late ictal state, the previous occipital ictal hyperperfusion and extraoccipital ictal hypoperfusion disappeared, together with homolateral posterotemporal and contralateral occipital hyperperfusion, corresponding to seizure propagation. Ictal extratemporal blood-flow changes are therefore highly dynamic, particularly in very young children.

Age Factors↗
PubMed2001

Genetic predisposition to severe myoclonic epilepsy in infancy.

PURPOSE: To address genetic predisposition to febrile convulsions (FCs) and epilepsy as an etiologic background of severe myoclonic epilepsy in infancy (SMEI). METHODS: Familial antecedents of epilepsy and FCs were analyzed in four groups of patients with SMEI (65 cases), FCs (57 cases), childhood absences (67 cases), and a control group of patients with no neurologic problems (64 cases). RESULTS: Patients with SMEI and those with FCs had significantly increased incidence of FCs in their relatives compared with those with absence epilepsy and with the control group. The incidence of epilepsy in relatives of patients with SMEI and absence epilepsy was increased compared with that in the control group and reached statistical significance. Epilepsy in relatives with SMEI had the characteristics of idiopathic generalized epilepsy. CONCLUSIONS: A genetic predisposition could determine three types of epileptic syndromes: FCs, idiopathic generalized epilepsy, and SMEI.

Adolescent↗
PubMed2001

[New antiepileptic drugs in childhood epilepsies: indications and limits].

Regarding the antiepileptic drugs (AEDs) in children, it was recently shown that they have a specific profile of efficacy and also of worsening according to the different epilepsy syndromes. However, the therapeutic profile of the most recent compounds is still not completely established in children because of the high number of syndromes and the difficulty to perform controlled studies in this age range. Controlled studies are most often first performed in adults and they begin in children whereas the new drug is already approved. However, some new AEDs dramatically improved seizure control, particularly in some severe epilepsy syndromes such as West syndrome and Lennox-Gastaut syndrome. Vigabatrin demonstrated a remarkable efficiency in infantile spasms whereas it tends to worsen myoclonic epilepsies, absence epilepsy and idiopathic partial epilepsy. Lamotrigine is efficient in absence epilepsy and symptomatic or cryptogenic generalized epilepsies such as Lennox-Gastaut syndrome and myoclonic astatic epilepsy. By contrast, lamotrigine increases the frequency of seizures in severe myoclonic epilepsy in infancy (Dravet syndrome) as well as in some cases of idiopathic partial epilepsy. Felbamate remains indicated as third line drug in refractory Lennox-Gastaut syndrome provided blood parameters are controlled. The therapeutic profile of oxcarbazepine is closed to that of carbamazepine. The efficacy of topiramate was demonstrated in partial epilepsy, but the other indications remain to be précised. Pediatric studies using gabapentin and tiagabine disclosed encouraging results in partial epilepsy. Clinical trials with stiripentol represent an example of strategy for developing a new AED in children; it recently demonstrated, in association with clobazaru, efficacy in a severe myoclonique epilepsy in infancy.

Anticonvulsants↗
PubMed2000

Genome search for susceptibility loci of common idiopathic generalised epilepsies.

Genetic factors play a major role in the aetiology of idiopathic generalised epilepsies (IGEs). The present genome scan was designed to identify susceptibility loci that predispose to a spectrum of common IGE syndromes. Our collaborative study included 130 IGE-multiplex families ascertained through a proband with either an idiopathic absence epilepsy or juvenile myoclonic epilepsy, and one or more siblings affected by an IGE trait. In total, 413 microsatellite polymorphisms were genotyped in 617 family members. Non-parametric multipoint linkage analysis, using the GeneHunter program, provided significant evidence for a novel IGE susceptibility locus on chromosome 3q26 (Z(NPL) = 4.19 at D3S3725; P = 0.000017) and suggestive evidence for two IGE loci on chromosome 14q23 (Z(NPL) = 3.28 at D14S63; P = 0.000566), and chromosome 2q36 (Z(NPL) = 2.98 at D2S1371; P = 0.000535). The present linkage findings provide suggestive evidence that at least three genetic factors confer susceptibility to generalised seizures in a broad spectrum of IGE syndromes. The chromosomal segments identified harbour several genes involved in the regulation of neuronal ion influx which are plausible candidates for mutation screening.

Chromosomes, Human, Pair 14↗
PubMed2000

Diagnosing idiopathic/cryptogenic epilepsy syndromes in infancy.

PURPOSE: To determine the characteristics that permit diagnosis of the type of epilepsy beginning in the 1st year of life, and to determine from what age such characteristics are recognisable. PATIENTS: From 430 non-selected patients who began having seizures in the 1st year of life and were referred to the neuropaediatric department of Saint Vincent de Paul Hospital, those with epileptic spasms as the first seizure type, those with recognisable aetiology, and those for whom early history was not reliable were excluded. METHODS: For the remaining 140 patients, the age at which clinical and electroencephalogram (EEG) characteristics met those of recognisable epilepsy syndromes according to the ILAE classification was studied. RESULTS: In most epilepsy syndromes, the diagnosis could be made within three months of onset of the disorder. The most difficult was to distinguish cryptogenic localisation related epilepsy from severe myoclonic epilepsy in infancy. Repeat focal seizures and persisting spike focus were the earliest and most reliable signs of localisation related epilepsy, whereas alternating focal seizures, generalised myoclonus, and/or spike waves appeared before the end of the 1st year in most infants with severe myoclonic epilepsy. However, for 39 patients it was not possible to reach the diagnosis of a precise syndrome. CONCLUSION: For over three quarters of infants with cryptogenic/idiopathic epilepsy, it is possible to reach a syndromic diagnosis within the first months of the disease, based on clinical and EEG characteristics. However, for one quarter, no diagnosis is possible based on the currently available classification.

Age Factors↗
PubMed2000

[Alternating hemiplegia of childhoood and oculomotor anomalies].

BACKGROUND: Alternating hemiplegia of childhood is a syndrome which begins in the first year of life. It is characterized by repeated attacks of uni-or bilateral hemiplegia or hemiparesia. In most cases paroxysmal manifestations are observed: movements or dystonia++ attacks, episodic nystagmus, abnormal eye movements and disturbance of the neurovegetative system, predominantly in the first year of life. ANALYSIS: In half of the cases, neurological anomalies begin during the neonatal period with a non characteristic aspect. Typical attacks take place after one year of life, sometimes associated with partial epilepsy. In a quarter of cases, the oculomotor anomalies have been known since early life. The diagnosis is made prior to one year on the basis of associated oculomotor anomalies and other symptoms without EEG arguments for epilepsy. Paroxysmal nystagmus is always found. One eye is affect in most cases, generally with horizontal and seldom with vertical movements of large variable pendular amplitude. One eye with nystagmus and the other with mydriasis is sometimes reported. Most attacks last from 30 sec to 3 min. Paroxysmal strabismus described in half of the cases seems to be generally unilateral internuclear transitory ophthalmoplegia. Finally, ocular deviations on the hemiparetic side are described. They are generally unique or sometimes associated with head deviation. Spontaneous blinking is reduced. CONCLUSION: Alternating hemiplegia of childhood is a non-epileptic sporadic, paroxysmal manifestation of unknown pathogenesis. Prognosis is poor. The presence of oculomotor signs suggests the diagnosis.

Diagnosis, Differential↗