Daunici, upoznajmo se!!!!!!!!

[Dinkic]

Tom2001 to sto su svi pokazatelji tijekom trudnoce pokazivali da nema DSa, govori da nista nije pouzdano. Neznam da li ste naisli da ni amniocinteza nije sigurna. Znam za dva slucaja kad se dogodilo suprotno. Kuma moje kume je imala nalaz amnia da nosi dijete s DSom, rodila se djevojcica bez DSa. Drugi slucaj mi je pricala prijateljica neonatologica u jednoj HR bolnici, amnio uredan ipak na svijet dosao djecak s DSom. <
><
>DomiMama super za Domija. Jako mi je drago da si dozivjela jedno lijepo iskustvo. Upravo je tako kako je rekla prof B. Ja sam se cudila kad mi je moja prijateljica pedijatrica (koja je tada radila u Klaicevoj) rekla da trebam ici kod prof.B. jer da ce mi ona voditi Filipa, pa ja vec imama pedijatra mislila sam, no nakon prvog pregleda (F je imao 2 mjeseca) shvatila sam sto je time mislila. <
><
>Filip 15.12.2000. <i></i>

[Lulu]

Tom2001 veliki pozdrav tebi i cijeloj obitelji, a extra veliki poljubac maloj Lari <
><
>Cure su vec sve rekle, tako da mi nemamo sto dodati. Samo vi uzivajte u a cim nesto zapne, trk na forum, po savjet i podrsku <
><
><
><i></i>

[tom2001]

Hvala na pozdavima i do
odoslici, a Lara je vec sva izljubljena ali smo ugurali i vase pusice <
><
>Zanima me kakva je procedura sa komisijom, koja je dokumentacija potrebna te u kojem se mjesecu najranije moze ici. Naime cak i u firmi za dodatne dane godisnjeg moram dokazati da imam dijete s pp sa rjesenjem komisije (kao da bi netko izmislio dijagnozu za dodatne dane godinjeg . )<
>Takodjer s tim rjesenjem koje sve povlastice mogu ostvariti, jer sam cuo da sve to dugo traje a zelim biti do
o informiran obzirom na birokraciju s kojom cu se susretati.<
><
>Jos jednom hvala na svim savjetima, za sve pretrage smo se narucili pa cekamo dok se ne priblize termini.<
><
>Pozdrav<
>tom2001<
><
>p.s. slikice uskoro <i></i>

[beba Dora]

evo i nas da se pridruzimo ovoj velikoj i toploj do
odoslici. <
>Ova 2-3 dana smo u Splitu i intenzivno vjezbamo s Dorom, a svaku drugu i najmanju priliku koristimo za kupanje i uzivanje u ljetnim blagodatima (imamo kucu 30-ak km juznije od Splita).<
>Malom borcu Lari i vama dragi roditelji PUUUUUUNO pozdrava i podrska iz Splita. <
><
>Malo da odgovorimo na pitanje vezano uz Centar za soc. skrb. Naime, upravo smo ovih dana predali na komisiju papire (jedna solidna gomila papira) za odo
enje 4-satnog radnog vremena za mene kao majku djeteta. Uz jako jako do
o poznanstvo u Centru, svejedno smo morali doci 3-4 puta, ispocetka je po sluzbenicima Dora bila "jos premala za ikakvu procjenu" (tada je imala punih 6 mjeseci). Ponovili smo proceduru ovih dana i sada je konacno sve kompletirano.<
><
>Vrlo
zo bi se trebali pojaviti na vjestacenju (ispada kao da cemo nekoga prevariti ako ne dodjemo, kao da nije dovoljno otprilike 20-ak nalaza razlicitih specijalista , kao da ce ista drugo moci reci clanovi komisije u tih 4-5 minuta u neljudskin uvjetima ) i dobiti to rjesenje . A za onaj drugi dio, utvrdjivanje invaliditeta, jednoglasno su nam u ST centru svi rekli da Dora na to nece imati pravo. Ovo na srecu varira od zupanije do zupanije, pa mozda ZG, RI, ili netko treci ima i pozitivan primjer. <
><
>Ali, jednom kada rjesenje o invalidnosti dobijete, nosite ga u Poreznu upravu, ono se upisuje u vasu poreznu karticu djelatnika, na temelju tog rjesenja ostvarujete veci dio neoporezivog dohotka, a nosite ga i u firmu, gdje onda dobivate veci
oj dana godisnjeg odmora.<
>Slozeno, ali se na koncu i isplati.<
><
>JOS JEDNOM DOBRO DOSLI, i uz malo upornosti koje vam nece nedostajati, rasturit cete i ovaj cudan svijet papirologije. <
><
>Veliki pozdrav!<
> <i></i>

[Dinkic]

Jos mali dodatak oko soc skrbi u Zagrebu.<
><
>Mi smo inzistirali i isli na komisiji s nepunih 7 mjeseci, znaci papire smo predali ranije mjesec dva, ali smo do kraja nalaz i misljenje cekali oko 4 mjeseca. Navodno sad ide malo
ze. Kako ja nisam trazila 4 sata nego sam isla raditi puno radno vrijeme vec s Filipovih 10 mjeseci tako nisu zurili.<
>Mi smo inzistrirali na komisiji jer smo htjeli traziti strucni logopedski tretman u obitelji koji daje Centar za rehabilitaciju Zagreb-Slobostina no kako smo kasno dobili nalaz i kako je bila poduza list cekanja na tretman opet smo dosli na tretman tek slijedeci godine (Filip je imao godinu i 9 mjeseci).<
><
>Kako sada i Slava Raskaj daje uslugu patronaze nadam se da ce vrijeme cekanja biti krace. Bitno je samo ne imati dvije usluge iz istog ministarstva (mislim ne iz socijale) dok u zdravstvu to ovisi o pedijatru da li ce dati uputnice.<
><
>Kako mi u ZG jako rijetko dobijemo invadninu (kao i u Splitu) jedino je suprug s nalazom i misljenjem otisao u poreznu upravu i dobio ipak mogucnost da ima za sina olaksicu malo vecu. I on i ja imamo pravo na sina dva dana, no kako je kod nas ogranicenje na 27 dana maksimalno tako ne mogu to koristi. Na osnovu nalaza i misljenja moja kompanija daje jedan izuzetno lijepi iznos za sve obitelji tako da imamo veliku pomoc i bez obzira na ta dva dana koja ne mogu koristiti. Nesto manje daju i u suprugovoj kompaniji tako da mozemo Filipu dosta toga organizirati iako nemamo niti invalidninu niti djecji doplatak. <
><
>Vjerujem da cete vi dobiti uvecani djecji doplatak ako ce vam supruga raditi pola radnog vremena. <i></i>

[tanja4]

Mi smo napravili drugačije.<
><
>Naime, iako je socijalna radnica govorila da je dijete od 6. mjeseci premalo za komisiju, inzistirali smo da nam uzmu papire (nalaz kardiologa, pedijatra, psihologa, fizijatra, neuropedijatra).<
><
>Od komisije sam tražila produljeni porodiljni dopust (jer dijete nisam bila u mogućnosti nakon godine dana ostaviti baki) i istodobno osobnu invalidninu.<
><
>Sa nepunih Sarinih godinu dana dobila sam rješenje o produljenom porodiljnom dopustu (na kojem sam i sada), ali sam invalidninu odbijena (jer kao dijete ne kasni značajno za svojim vršnjacima??).<
><
>Naravno, da sam se na to rješenje o invalidnini žalila, i nakon 22. mjeseca dobila pozitivno rješenje i sve zaostatke od dana žalbe do izdavanja rješenja.<
><
>I danas imamo osobnu invalidninu.<
><
>Mislim da je važno, do
o se postaviti pred socijalnom radnicom (biti do
o informiran o svojim pravima), ali nikako nisam za agresivno i neodgojeno ponašanje već sve na finjaka.<
><
>Taktičan treba biti i na komisiji, jer sam mišljenja da ljudi koji rade u komisijama nas ne žele a priori odbiti, pa mislim da im mi moramo dati štofa na osnovu čega će nam izaći u susret.<
><
>Svjesni su oni poteškoća naše djece.<
><
>Sretno i strpljivo!!! <i></i>

[tom2001]

Zahvaljujem na odgovorima i krecemo u skupljanje papirologije<
><
>Evo i prve dvije slicice male Lare<
><
><
><
>Pozdrav<
>tom2001 <i></i>

[Lulu]

Lara <
><
>Pusa velika slatkisu malom. <
><
><
><i></i>

[tanja4]

Larica je prekrasna beba!!!<
><
>Pusa!!! <i></i>

[tom2001]

Dakle ovako prvi pregledi su napravljeni...<
><
>Kvrzica na vratu je cisticni higrom (benigni tumor) velicine 40 x 15 mm (pedijatri u bolnici nakon poroda ga nisu vidjeli ) kirurg bi ga operirao sto prije jer je na dosta nezgodnom mjestu i da se ne pocne jos vise povecavati. Sljedeci tjedan idemo anesteziologu (jer se operacija radi pod opcom anestezijom) da vidimo da li je ona uopce sposobna za operaciju sto zbog srca sto zbog kilaze 3,9 kg.<
><
>Kardiolog je nasao rupicu velicine 3 mm i rekao da nije za
injavajuca te da ne treba koristiti nikakve lijekove za srce jer je stanje OK, s tim da nam je kardiolog preporucio da radije pricekamo da bebica ne dobije jos na kilazi radi opce anestezije.<
><
>Vidjeti cemo sto ce anesteziolog reci..., sto se radi u takvim situacijama da li se ceka ili se ide s operacijom.<
><
>Inace Lara je u tjedan dana dobila 180 grama sto je i vise od prosjeka po tjednu pa je pedijatrica bila zadovoljna s napredovanjem.<
><
>Pozdrav svima i vasoj djecici<
>tom2001 <i></i>

[IRENA]

Anesteziolog ce dati svoju procjenu uzimajuci u obzir i velicinu "rupice" i njene hemodinamske ucinke (za sada nema znakova da rupica ima neke negativne ucinke na cijeli krvni optok) ali i na<
>cinjenicu da higromi ,mada do
ocudni ,mogu dosta
zo rasti (to su hrskavicni tm pa "piju vodu") i pritiskati na okolne strukture... <
>Ovaj dobar prinos na tezini je super... <
><
>Moje starije dijete je vec 10 dana sa bakom i didom na viksi ..kad ga zovem telefonom veli bok i ode igrati nogomet...Svi patimo za njim...a njega bas
iga.... <
>Kad je bio mali ko Lara mastala sam o tome...a sad mi totalni bed....nikad zadovoljna... JAN 8.12.99. VITO 13.3.2003.<i></i>

[DomiMama]

Tekst kopiran sa DS Research Centra Standford University:<
><
>testiranja na misevima koji imaju trisomiju 21 donose napretke... <
>ovdje je clanak koji (koliko sam ja shvatila ovako na prvo citanje) ukazuje na problem Alzheimera u DS ljudi i otkrice koji je tocno gen "krivac"...<
>Uglavnom, mozda nam Irena moze malo laickije objasniti...<
><
>pozdravcic<
><
>edit: evo i link<
><
>"In the spotlight:<
><
>An extra copy of the App gene causes degeneration of
ain cells in a Down syndrome mouse model<
>By Sietske Heyn, Ph.D. <
><
>The
ain of virtually every person with Down syndrome older than 40 years shows neurodegeneration identical to Alzheimer’s disease (AD) (1). With increasing age, increasing neurodegeneration causes many people with Down syndrome to suffer from cognitive decline (2). To date, the mechanisms underlying this neurodegeneration and how it causes cognitive decline are poorly understood. We only know that, somehow, having an extra copy of one or several genes on chromosome 21 must be responsible. <
><
>Most people with Down syndrome have a complete extra copy of chromosome 21, containing at least 300 genes (3). One of the challenging tasks for scientists is to tease out, which of these 300 genes contribute(s) to the cognitive decline found in people with Down syndrome. In a recent issue of the journal Neuron, Dr. Salehi and colleagues from the Stanford University Center for Research and Treatment of Down Syndrome published findings that may shed some light on this question.<
><
>Basal fore
ain cholinergic neurons (BFCNs) are a group of
ain cells that are important for attention, learning and memory functions. BFCNs receive input from a protein produced in the hippocampus, called nerve growth factor (NGF). NGF plays a vital role in the well-being of BFCNs. Once NGF is secreted by hippocampal cells, it binds to specific receptors located at the synapses of BFCNs (See Figure 1). NGF and its receptor then become enclosed in a vesicle called signaling endosome and travel from the synapse, through the axon all the way back to the cell body and nucleus (4). At the nucleus, the signaling endosome triggers a complex cascade of events, involving changes in the expression levels of specific genes. The products of these genes are necessary for maintaining normal function of BFCNs, including their synapses – the points of communication between
ain cells.<
><
><
><
>Under conditions where NGF transport to the nucleus is blocked in BFCNs, insufficient signaling messages are transmitted to the cells. The BFCNs are unable to express the proper amount of genes and their protein products necessary for normal cell maintenance and function (See Figure 2). BFCNs degenerate and stop producing acetylcholine – a neurotransmitter important for communicating with hippocampal neurons. As a result, learning and memory are compromised. <
><
><
><
>Evidence in Down syndrome, AD, and other neurodegenerative diseases, suggests that shrinkage and loss of BFCNs may contribute to cognitive decline (5-7) and that NGF plays a role in the degeneration of these BFCNs ( . Research has also suggested that the amount of NGF transported to the BFCNs is decreased in Down syndrome and AD (See reference 9 for a review).<
><
>Based on these earlier findings, Salehi and colleagues focused their research on defining the genes that cause decreased transport of NGF, and how this might contribute to the degeneration of BFCNs. For their experiments, Salehi et al. (2006) took advantage of two well-studied mouse models of Down syndrome: Ts65Dn and Ts1Cje (For a review of these mice see News & Views No. 2). Both models have an extra chromosome containing a subset of genes found on human chromosome 21 (See Figure 3). The difference between the two mouse models is that the Ts65Dn mouse contains an extra copy of approximately 140 genes found on human chromosome 21, whereas the Ts1Cje mouse contains about 100 extra genes. Salehi et al. conducted various experiments in which they compared NGF transport and BFCNs in Ts65Dn mice with Ts1Cje and normal mice.<
><
>They found that transport of NGF was significantly reduced in the BFCNs of the Ts65Dn mice compared to normal control mice. Interestingly, NGF transport was less severely reduced in the Ts1Cje mice. In addition, they found an increased amount of NGF in the hippocampus of Ts65Dn mice, compared with control and Ts1Cje mice. Since the hippocampus is the site of NGF production, this finding suggested that enough NGF is being produced in the Ts65Dn mice, but that it somehow doesn’t reach its target, the nucleus of the BFCNs. <
><
>Next, the scientists analyzed the number and size of BFCNs in elderly Ts65Dn, Ts1Cje and control mice, to see if there were any differences that could be attributed to decreased NGF transport. They found that there was indeed a significant decrease in the size as well as number of BFCNs in the Ts65Dn mice. In contrast, the number of BFCNs in the Ts1Cje mice did not differ significantly from normal mice and the cells were not as small as in Ts65Dn. <
><
>What could possibly lead to such significantly different results in the two mouse models?<
>Recall that the Ts65Dn mouse contains about 40 more genes than Ts1Cje. One or several of those 40 genes present in the Ts65Dn mouse, but not in Ts1Cje, must be responsible for the observed effects. Because of its key role in AD, the amyloid precursor protein (App) gene revealed itself as a plausible candidate. The Ts65Dn mouse has three copies of this gene, whereas the Ts1Cje mouse only has two copies (See Figure 3). Using a genetic approach, Salehi et al. (2006) showed that increased App gene dose and overexpression indeed contribute to disrupted transport of NGF and thereby to the degeneration of BFCNs in Ts65Dn mice. <
><
>What are the implications of these findings for people with Down syndrome? <
>Salehi et al. have shown that a specific gene called App can be linked to the degeneration of BFGNs in a mouse model of Down syndrome. Since this gene is also associated with AD, these findings support the hypothesis that neurodegeneration and cognitive decline in older people with Down syndrome are associated with the chromosome 21 region that contains the APP gene. <
><
>The importance of the role of the APP gene in Down syndrome is further supported by two other reports. In one report (10), a woman with Down syndrome died at age 78 without any signs of dementia. At autopsy, her
ain revealed no AD pathology. This is quite remarkable, since virtually all people with Down syndrome show AD pathology when they are about 40 years old. It turned out that this person only had two copies of the APP gene instead of the expected three. In a second report (11), a research team analyzed five families in which multiple members showed early onset AD with abnormal
ain vasculature. Interestingly, all affected family members had a short extra segment of chromosome 21 that included the APP gene. These authors conclude that the APP gene and perhaps some of its surrounding genes, when triplicated, cause early onset familial AD.<
><
>The findings by Salehi and colleagues are very exciting for several reasons.<
>In more general terms, they provide additional evidence that in a mouse model, a complex disorder such as Down syndrome can be
oken down into different constituents and that each sign or symptom can be related to the overexpression of a specific gene or a small group of genes. These results also confirm that using mouse models is a good approach to understanding gene dosage effects in Down syndrome and other disorders.<
><
>More specifically, the findings by Salehi et al. provide a target gene that might have therapeutic potential for preventing or delaying cognitive decline in Down syndrome. If an overexpression of the App gene can lead to such drastic changes in the
ain, then therapy that reduces this overexpression should be very effective. Experiments by Cooper et al. (2001) have already demonstrated that, by injecting NGF into the
ains of Ts65Dn mice, the BFCN degeneration could be recovered. Obviously, this is a very invasive method that cannot be applied to humans at this point. However, perhaps reversal of failed NGF transport could be achieved by targeting the App gene or protein. Even a small decrease in App expression might potentially prevent or at least delay the onset of cognitive decline in people with Down syndrome, by keeping NGF transport intact and BFCNs healthy.<
><
>Lastly, overexpression of the APP gene is implicated in the neuropathology of AD as well as Down syndrome. Therefore, therapeutic strategies for AD, which target APP could potentially be useful in preventing or delaying cognitive decline in people with Down syndrome. <
><
>In summary, Dr. Salehi and his colleagues have shown that an extra copy of a gene called App causes degeneration of BFCNs in a mouse model of Down syndrome. Since shrinkage and loss of BFCNs may contribute to cognitive decline in Down syndrome, it is very exciting to have found a specific gene that is linked to this degeneration. The APP gene has great therapeutic potential for the prevention or delay of cognitive decline in people with Down syndrome.<
><
> <
><
>References<
>1. Wisniewski, KE, Dalton, AJ, McLachlan, C, Wen, GY, and Wisniewski, HM (1985) Alzheimer’s disease in Down’s syndrome: clinicopathologic studies. Neurology. 35:957-961.<
><
>2. Lai, F and Williams, RS (1989) A prospective study of Alzheimer’s disease in Down syndrome. Arch Neurol. 46:849-853.<
><
>3. Hattori, M et al. (2000) The DNA sequence of chromosome 21. Nature. 407(6784) 83-284.<
><
>4. Sofroniew, MV, Howe, CL, and Mobley, WC (2001) Nerve growth factor signaling, neuroprotection, and neural repair. Annu Rev Neurosci. 24 217-1281.<
><
>5. Mann, DM, Yates, PO, Marcyniuk, B, and Ravindra, CR (1985) Pathological evidence for neurotransmitter deficits in Down’s syndrome of middle age. J Ment Defic Res. 29(Pt. 2) 25-135.<
><
>6. Whitehouse, PJ, Price, DL, Clark, AW, Coyle, JT, and DeLong, MR (1981) Alzheimer disease: evidence for selective loss of cholinergic neurons in the nucleus basalis. Ann Neurol. 10 22-126.<
><
>7. Salehi, A, Lucassen, PJ, Pool, CW, Gonatas, NK, Ravid, R, and Swaab, DF (1994) Decreased neuronal activity in the nucleus basalis of Meynert in Alzheimer’s disease as suggested by the size of the Golgi apparatus. Neuroscience. 59:871-880.<
><
>8. Cooper, JD, Salehi, A, Delcroix, JD, Howe, CL, Belichenko, PV, Chua-Couzens, J, Kil
idge, JF, Carlson, EJ, Epstein, CJ, and Mobley, WC (2001) Failed retrograde transport of NGF in a mouse model of Down’s syndrome: reversal of cholinergic neurodegenerative phenotypes following NGF infusion. Proc Natl Acad Sci. 98 0439-10444.<
><
>9. Salehi, A, Delcroix, JD, and Mobley, WC (2003) Traffic at the intersection of neurotrophic factor signaling and neurodegeneration. Trends Neurosci. 26, 73-80.<
><
>10. Prasher, VP, Farrer, MJ, Kessling, AM, Fisher, EMC, West, RJ, Barber, PC, Path, MRC, and Butler, AC (199 Molecular mapping of Alzheimer-type dementia in Down’s syndrome. Ann Neurol. 43 80-383.<
><
>11. Rovelet-Lecrux, A, Hannequin, D, Raux, G, Le Meur, N, Laquerričre, A, Vital, A, Dumanchin, C, Feuillette, S, Brice, A, Vercelletto, M, Dubas, F, Frebourg, T, and Campion,D (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cere
al amyloid angiopathy. Nature Genetics. 38(1) 4-26."<
> <
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><i>Edited by: DomiMama at: 12/7/06 14:13<
></i>

[Lulu]

Ima nesto i ovdje:<
><
>www.plivazdravlje.hr/?sec...768&show=1 <
><
><
><i></i>

[nadicab]

ugodno lijepi topic na http://www.forum.hr Denis (16.05.2000.) <i></i>

[DomiMama]

To smo mi... i Tija i Lulu i Tom... <
><
><
><
><
><
><
><i></i>

[nadicab]

avo Denis (16.05.2000.) <i></i>

[Lidija]

zatvaram zbog duzine .... otvaram novi ..... <i></i>

[skk]

UMORNA SAM OD SVEGA A TEK SAM NA POČETKU