Malformations of cortical development in children : clinical manifestation, neuroimaging and neuropathology in selected cases

Cerebral cortical development can be divided into three steps: cellular proliferation, neuronal migration and organization. Based on known pathologic, genetic and neuroimaging features a classification for malformations of cortical development was proposed by Barkovich in 2001, and updated in 2005. Malformations of cerebral cortex development (MCCD) often demonstrate epileptic seizures and delay in psychomotor development. About 20-40% of children with epilepsy are drug-resistant and there is a large paediatric population requiring epilepsy surgery operations. In our work we performed clinical analysis of 68 children with MCCD treated in our hospital between 2000 and 2006. In our work to consider the type of MCCD we used the updated classification scheme proposed by Barkovich et al. We analyzed epilepsy, gestational and perinatal history, initial symptoms, time to establishing full diagnosis and neurodevelopmental/IQ status. In our results we found that despite similar clinical manifestation neuropathological basis could be significantly different, and vice versa: children with nearly identical neuropathological findings could have completely different neurological and radiological symptoms. Children with drug-resistant epilepsy are potential candidates for neurosurgical treatment; especially lesionectomies in such cases could be very promising in terms of epilepsy management and quality of life as well

Klasyfikacja molekularna gruczolaków przysadki: w poszukiwaniu kryteriów przydatnych do badań wysokoprzepustowych

  Introduction: The mechanism of pathogenesis of pituitary adenomas is still unknown, and it shows differences in pituitary cells of different origin. The aim of our study was to analyse the gene expression profile of pituitary hormones and their precursor genes: PRL, GH, POMC, TSHb, LHb, FSHb, and CGA by QPCR in particular types of pituitary adenomas, and to evaluate the results in the context of sample selection for microarray studies. Material and methods: Analysis of the gene expression profile was performed in 84 samples of pituitary adenomas, by real-time quantitative PCR (QPCR). Results: As expected, expression of GH gene was significantly higher in somatotropinomas than in prolactinomas (p < 0.05). For POMC gene we noticed lower expression in all pituitary adenomas, except adrenocorticotropinomas (p < 0.05). In the case of PRL gene, the highest expression was observed; PRL+ adenomas were in third place. LHb and FSHb genes showed the highest expression, respectively, in LH-producing and FSH-producing pituitary adenomas; however, our analysis did not show statistically significant differences between LH-producing and FSH-producing adenomas. Conclusions: Our study showed that GH is a characteristic gene for somatotropinomas. We drew a similar conclusion for POMC gene and adrenocorticotropinomas. However, the results that we obtained for PRL, TSHb, LHb, FSHb, and CGA genes indicate that evaluation of gene expression is not sufficient for classification of particular subtypes of pituitary adenomas. (Endokrynol Pol 2016; 67 (2): 148–156)    Wstęp: Mechanizm odpowiedzialny za patogenezę gruczolaków przysadki nie został jeszcze w pełni wyjaśniony i wykazuje różnice w różnych typach komórek przysadki. Celem badania była analiza profilu ekspresji genów kodujących hormony przysadkowe i ich prekursory: PRL, GH, POMC, TSHb, LHb, FSHb, CGA w poszczególnych typach gruczolaków przysadki oraz ocena uzyskanych wyników w kontekście wyboru próbek do badań mikromacierzowych. Materiał i metody: Analizę ekspresji genów przeprowadzono za pomocą ilościowej reakcji PCR w czasie rzeczywistym (QPCR) na materiale 84 gruczolaków przysadki. Wyniki: Ekspresja genu GH była znamiennie wyższa w gruczolakach somatotropinowych (GH+) w porównaniu z prolaktynowymi (PRL+). Zaobserwowano również wzrost ekspresji tego genu w guzach GH+ w stosunku do gruczolaków immunohistochemicznych ujemnych. Dla genu POMC wykazano niską ekspresję we wszystkich badanych grupach gruczolaków, z wyjątkiem gruczolaków kortykotropinowych (ACTH+). Najwyższą ekspresję genu PRL zaobserwowano w gruczolakach somatotropinowych; gruczolaki prolaktynowe były na trzecim miejscu. Dla genów LHb i FSHb nie zaobserwowano statystycznie znamiennych różnic pomiędzy gruczolakami LH+ i FSH+. Wnioski: W niniejszym badaniu potwierdzono, że gen GH jest charakterystyczny dla gruczolaków somatotropinowych, podobnie jak gen POMC dla gruczolaków kortykotropinowych. Jednakże, wyniki uzyskane dla genów PRL, TSHb, LHb, FSHb i CGA wskazują, że ocena ekspresji genów nie jest wystarczająca dla prawidłowej klasyfikacji poszczególnych podtypów gruczolaków przysadki. (Endokrynol Pol 2016; 67 (2): 148–156)

A European multicenter outcome study on the different perioperative airway management policies following midface surgery in syndromic craniosynostosis:a proposal for a Standard Operating Procedure

BACKGROUND: Perioperative airway management following midface advancements in children with Apert and Crouzon/Pfeiffer syndrome can be challenging, and protocols often differ. This study examined airway management following midface advancements and postoperative respiratory complications.METHODS: A multicenter, retrospective cohort study was performed to obtain information about the timing of extubation, perioperative airway management, and respiratory complications after monobloc / le Fort III procedures.RESULTS: Ultimately, 275 patients (129 monobloc and 146 Le Fort III) were included; 62 received immediate extubation and 162 delayed extubation; 42 had long-term tracheostomies and nine perioperative short-term tracheostomies. Short-term tracheostomies were in most centers reserved for selected cases. Patients with delayed extubation remained intubated for three days (IQR 2 - 5). The rate of no or only oxygen support after extubation was comparable between patients with immediate and delayed extubation, 58/62 (94%) and 137/162 (85%) patients, respectively. However, patients with immediate extubation developed less postoperative pneumonia than those with delayed, 0/62 (0%) versus 24/161 (15%) (P = 0.001), respectively. Immediate extubation also appeared safe in moderate/severe OSA since 19/20 (95%) required either no or only oxygen support after extubation. The odds of developing intubation-related complications increased by 21% with every extra day of intubation.CONCLUSIONS: Immediate extubation following midface advancements was found to be a safe option, as it was not associated with respiratory insufficiency but did lead to fewer complications. Immediate extubation should be considered routine management in patients with no/mild OSA and should be the aim in moderate/severe OSA after careful assessment.</p

Neurologopedical and neurodevelopmental disorders in syndromic dyscranias on the example of Apert syndrom. Literature survey and the discription of three cases

In this article the authors present one of the most frequent clinical syndroms connected with complex dyscranias – the acroce phalosyndactylia of A type, i.e. Apert syndrom. Authors present cases of three children touched by this illness and they will show the disorders of cognitive and communicative functions that aresignificant as regards the work of speech neurotherapist

Subjective Assessment of Head and Facial Appearance in Children with Craniosynostoses after Surgical Treatment

Background: Craniosynostoses are congenital defects in the construction of the skull involving premature fusion of one or more cranial sutures. Premature fusion of sutures causes characteristic skull deformation(s). This affect the structure and thus the appearance of the entire head and face. The aim of this study was to analyze parents&rsquo; subjective assessments of head and facial appearance in children with craniosynostoses before and after surgery. Parents also assessed the interpersonal relationship of their children with peers and adults (after surgery). Methods: This study was conducted among parents of 230 children treated in Poland, in two multidisciplinary centers. Detailed statistical analysis was conducted among children who had undergone surgery. Independent variables were age (at survey) of the child (three years and less, four years, and five years and more) and type of craniosynostosis (isolated and syndromic). A chi-square independence test was used. Data was collected using surveys. Results: In the opinion of most parents, the appearance of their child&rsquo;s head and face after surgery did not differ or differed only slightly from that of their peers. The results of subjective assessment of appearance of children&rsquo;s face and head after reconstructive treatment remains comparable in three subgroups of patients according to the age. It seems that specific head shape according to the type of craniosynostosis does not have an impact on relations with peers and adults. Conclusion: Surgical treatment of children with craniosynostoses improves the appearance of their head and face. This improvement seems not to depend on the type of isolated craniosynostosis, and is constant over time

Neuropsychological conditions of Down syndrom

Authors of the article undertook an important subject of the correlation of conditions of Down syndrom (its genetic syndrome) with the latest reports from medical world literature. Fragments relating to relationships between Down syndrom and dementative syndroms deserve special attention (particularly at adults and older people) as well as the indication of exact dependences between genetic syndrome and dementia diseases

Nieprawidłowa budowa aparatu mowy oraz opóźniony rozwój mowy u dzieci z izolowanymi postaciami kraniosynostoz

Craniosynostosis is a congenial malformation caused by premature fusion of one or more cranial sutures, leading to abnormal shape of the skull. Non-syndromic craniosynostoses can result in developmental disorders, including speech acquisition delay. The authors have carried out neurologopaedic research on a group of 124 children aged 3 to 59 months of life. In these cases, causes of speech disorders are very complex. Additional research concerning speech and language development in school age children with craniosynostoses is essential.Key Words: craniosynostosis, cranial sutures, speech disorders, neurodevelopmental disorder

Discourse disorders experienced by people with schizophrenia

The main aim of the article is to show a spectrum of problems experienced by people with schizophrenia, which emerges as communication disorders. In the area of problems, etiology of the disease and its impact on the discourse are taken into account. The occurrence of disturbed areas of communication outlines a language model which may appear among people with schizophrenia

Preliminary evaluation of long-term outcomes after stereotactic radiosurgery for cerebral arteriovenous malformations – when is the right time for re-irradiation?

AIM The purpose of the study is to evaluate the results of stereotactic radiosurgery for cerebral arteriovenous malformations (AVMs) in patients followed-up for at least two years. MATERIAL AND METHODS From a group of 91 patients irradiated with single-fraction radiosurgery, a subset of 58 patients followed-up for at least two years was selected. The median follow-up was 5.7 years. There were 8 Spetzler-Martin grade I lesions, 26 grade II, 20 grade III, and 4 grade IV. In 27 (42.6%) embolization was performed before radiosurgery. In 31 (53.5%) at least one intracranial hemorrhage was diagnosed before the treatment, in 18 (31%) the presenting symptom was epilepsy, in 38 (66.6%) headaches, in 14 (24%) paresis, in 9 (15.5%) visual deficits and in 5 (8.6%) speech disturbances. The patients were irradiated with single doses of 5–20 Gy (mean and median dose 16 and 17.5 Gy, respectively). The treatment was performed with a linear accelerator equipped with a micromultileaf collimator. RESULTS The actuarial one-year obliteration rate was 11%, two-year – 38%, three-year 47%, four-year – 67%, and five-year – 72%. The median time to obliteration was 3.17 years. In five patients obliteration occurred at least four years after the irradiation. Two patients from this group were qualified for repeat radiosurgery, both of them after 7 years from the initial treatment. In both cases the AVMs finally occluded. CONCLUSIONS Long-term follow-up is required in patients after stereotactic radiosurgery for cerebral AVMs because obliteration can occur after the postulated 2–3 year latency period. Repeat radiosurgery is an effective method of treatment but an optimal time for re-irradiation is not clearly defined.CEL Celem pracy jest ocena wyników leczenia metodą radiochirurgii stereotaktycznej malformacji tętniczo-żylnych u chorych obserwowanych co najmniej przez dwa lata. MATERIAŁ I METODA Z grupy 91 chorych napromienianych stereotaktycznie pojedynczą dawką promieniowania wyselekcjonowano 58, u których okres obserwacji wynosił co najmniej 24 miesiące. Mediana czasu obserwacji wynosiła 5,7 roku. W badanej grupie było 8 chorych, u których rozpoznano AVM I stopnia w skali Spetzlera-Martina, 26 – II stopnia, 20 – III stopnia i 4 – IV stopnia. U 27 (42,6%) przeprowadzono wcześniej zabieg embolizacji, u 31 (53,5%) przed leczeniem wystąpiło co najmniej jedno krwawienie, u 18 (31%) obserwowano napady padaczkowe, u 38 (66,6%) bóle głowy, u 14 (24%) niedowłady, u 9 (15,5%) zaburzenia widzenia, u 5 (8,6%) zaburzenia mowy. Chorych napromieniano dawkami 5–20 Gy (średnia i mediana odpowiednio 16 i 17,5 Gy) za pomocą przyspieszacza liniowego wyposażonego w mikrokolima- tor wielolistkowy. WYNIKI Aktualizowany roczny odsetek obliteracji wynosił 11%, dwuletni - 38%, trzyletni - 47%, czteroletni - 67% i pięcioletni - 72%. Mediana czasu do obliteracji wynosiła 3,17 roku. U 5 chorych do obliteracji doszło w okresie powyżej 4 lat po leczeniu. U 2 chorych powtórnie przeprowadzono radiochirurgię stereotaktyczną, u obu po 7 latach od pierwotnego leczenia, w obu przypadkach uzyskując obliterację. WNIOSKI 1. Chorzy po radiochirurgii stereotaktycznej wymagają długiego czasu obserwacji, gdyż do obliteracji może dojść w późniejszym niż postulowany 2–3-letnim okresie latencji. 2. Powtórna radiochirurgia stereotaktyczna jest leczeniem skutecznym, optymalny czas powtórnego zabiegu nie jest jednak dobrze zdefiniowany