#16
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Ñïàñèáî!
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#17
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Äîáðûé äåíü. Ïðèøëè àíàëèçû êðîâè. Ïðîñìîòðèòå, ïîæàëóéñòà. "MCHC áîëüøå 370 íå áûâàåò. Íå áûâàåò òàêèõ ýðèòðîöèòîâ. Îíè ðàçîðâàòüñÿ äîëæíû" - âû÷èòàëà. È ÷òî ýòî áûâàåò ïðè ðÿäå ðåäêèé çàáîëåâàíèé è îíêîëîãèè. [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ]
[Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] |
#18
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åøå ðàçîê - òàêàÿ öèôðà ãîâîðèòü î íåïðàâèëüíî âûïîëíåííîì àíàëèçå, âñåãäà äåëàéòå àíàëèçû â ãåìîòåñòå èëè èíâèòðî, à òî äî êîíöà æèçíè áóäåòå èñêàòü ðåäêèå áîëåçíè è ëå÷èòüñÿ ó ïñèõèàòðà îò îíêîôîáèè
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#19
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Ñïàñèáî çà îòâåò! Ýòî ÿ ðåøèëà "ñýêîíîìèòü" è ñäàòü ïî íàïðàâëåíèþ â ãîðîäñêîé ïîëèêëèíèêå, âèäíî,÷òî çðÿ. Ñêàæèòå, ïîæàëóéñòà, à ÷òî íàñ÷¸ò äðóãèõ ïîêàçàòåëåé, â ÷àñòíîñòè ëèïèäíûé ïðîôèëü, õîëåñòåðèí è èæå ñ íèìè? Ôåððèòèí áûë 8, ãîä ïüþ Ñîëãàð (ïî Âàøåé ðåêîìåíäàöèè), ñåé÷àñ 63. ß òàê ïîíèìàþ, ÷òî ìíå íàäî ïðîäîëæàòü ïðèåì?
Îíêîôîáèÿ ýòî äà, ìîÿ òåìà, ðàê ïðîñòàòû âîò òîëüêî íàâåðíîå ó ñåáÿ íå ïîäîçðåâàëà.) Êñòàòè, íàñ÷¸ò ðåäêèõ áîëåçíåé,ïî èðîíèè, ìîæåò, ñóäüáû, â 40 ëåò óçíàëà, ÷òî ó ìåíÿ íåéðîôèáðîìàòîç 1, ïîäòâåðæäåííûé àíàëèçîì. Ñäàâàëà àíàëèç â ÌÃÍÖ â Ìîñêâå. Ó äî÷êè òîæå ïîäòâåðäèëè. Ïðîñòèòå, ïî÷åìó òî ïîëó÷èëîñü â äâà ñîîáùåíèÿ. |
#20
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âñå îñòàëüíîå õîðîøî, ôåððèòèí 50-70, îïòèìàëüíûå çíà÷åíèÿ äëÿ æèçíè æåíøèíû
https://forums.rusmedserv.com/showpo...&postcount=256
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#21
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ïåðâîå ïîïàâøåååñÿ èç êèòàÿ: â çàâèñèìîñòè îò ìóòàöèè íåéðîôèáðîìàòîç-1 (àóòîñîìíî-äîìèíàíòíîå çàáîëåâàíèå = áóäåò ó âñåõ âàøèõ ïîòîìêîâ) èìååò ðàçíûé ðèñê êàê ïñè-çàáîëåâàíèé, òàê è îïóõîëåé, íî åñëè êîæíûå ïðîÿâëåíèÿ â 100 ïðîöåíòàõ, òî ïîâûøåííûé ðèñê îïóõîëåé êàê îäíà ó 35 äî îäíà ó 9 ïàöèåíòîâ, ïñèõèàòðè÷åñêèå áîëåçíè òîæå áûâàþò ó êàæäîãî 8-9 ãî
A total of 195 patients were enrolled, comprising 105 males and 90 females, with a median age of 18 years. Truncating variants, single amino acid variations, and splicing variants accounted for 139/195 (71.3%), 23/195 (11.8%), and 33/195 (16.9%), respectively. Patients with splicing variants exhibited a significantly higher prevalence of spinal plexiform neurofibromas (spinal PNF) than those with truncating variants (76.4% vs. 51.8%; p = 0.022). Variations affecting the PKC domain were associated with higher rates of cutaneous neurofibromas (CNF) (100% vs. 64.9%, p < 0.001), Lisch nodules (100% vs. 61.2%, p < 0.001), plexiform neurofibromas (PNF) (100% vs. 95.7%, p = 0.009), and psychiatric disorders (11.8% vs. 1.6%, p = 0.042). Patients with mutations in the CSRD had an elevated risk of secondary primary malignancies (11.6% vs. 2.8%, p = 0.015). GRD involvement might enhance the risk of Lisch nodules (76.9% vs. 53.7%, p = 0.044). Variations in the Sec14-PH domain were correlated with a higher rate of CNF (76.8% vs. 58.6%, p = 0.014). Additionally, we found that the p.R1748* variants carry a high risk of malignancy.
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#22
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Åù¸ ðàç ñïàñèáî çà ñêîðûé îòâåò. Ïî ïîâîäó íô1 âðîäå êàê ñòàäèè îòðèöàíèå-ãíåâ-ïðèíÿòèå ÿ ïðîøëà. ) Ñïàñèáî çà ïðèâåä¸ííóþ èíôîðìàöèþ. Íàäåþñü, êîíå÷íî, ÷òî è ó ìåíÿ è ó äî÷åðè âñå ïðîÿâëåíèÿ îãðàíè÷àòñÿ êîôåéíûìè ïÿòíàìè.
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#23
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Åñëè âàì èçâåñòíà ìóòàöèÿ òî ìîæåòå ñîïîñòàâèòü ñ ðèñêîì ÷åãî ëèáî; àñòìà ÷àñòî áûâàåò ïðè íô1 îíà ñíèæàåò ðèñê îïóõîëåé
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#24
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Íå íàøëà ñâîè çàêëþ÷åíèÿ, íî ó äî÷åðè òàêàÿ æå ìóòàöèÿ. Âðîäå íå çàðåãèñòðèðîâàíà ïèøóò. Ãåíåòèê ñêàçàë,÷òî ñòðîèòü ïðîãíîçû íà âàðèàíòû ïðîÿâëåíèÿ íåò ñìûñëà. Åäèíñòâåííîå,ÿ ãäå òî âðîäå ïîòîì ÷èòàëà,÷òî ðàç íåò "ñäâèãà ðàìêè ñ÷èòûâàíèÿ" ýòî íåïëîõî, ñèíòåç áåëêà ÷òî ëè íå íàðóøåí. Íó ýòî ìîè "äèâàííî-ýêñïåðòíûå" ðàññóæäåíèÿ. Íà ñòàäèè óçíàâàíèÿ îá íô1 ÷èòàëà ìíîãî , â òîì ÷èñëå èñòîðèè ïàöèåíòîâ, ÷òî ïðè îäíîé ìóòàöèè ó ðîäèòåëÿ è ðåáåíêà ïðîÿâëåíèÿ áûëè ðàçíûå. Ó ðîäèòåëÿ ñóïåð ë¸ãêîå òå÷åíèå, ó ðåáåíêà äîâîëüíî òÿæåëîå. [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ]
[Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] |
#25
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äà, ïðèìåðíî òàê è åñòü, áëèæàéøàÿ ê âàøåé áûëà îïóáëèêîâàíà ìóòàöèÿ 574 öò, ñòîï-êîäîí, òîëüêî êîôåéíûå ïÿòíà è âåñíóøêè ó âñåõ â ðîäó, çà èñêëþ÷åíèåì ðåáåíêà â òðåòüåì ïîêîëåíèè, ó êîòîðîãî áûëè ïåðåëîìû êîñòè
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#26
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Âàäèì Âàëåðüåâè÷, à òðåòüå ïîêîëåíèå ýòî óñëîâíî äî÷ü èëè ñûí ìîåãî ðåáåíêà? À âîò èíòåðåñíî,òî,÷òî ÿ ðîäèëàñü ñ âðîæä¸ííûì îòñóòñòâèåì ëåâîãî ïðåäïëå÷üÿ ýòî ñâÿçàíî ñ íô1 èëè òàêîé îòäåëüíûé "ïîäàðîê ñóäüáû"?) Íó ýòî, ïîæàëóé, ðèòîðè÷åñêè-áåññìûñëåííûé âîïðîñ. Èìååò íàâåðíîå çíà÷åíèå âîïðîñ ïëàíèðîâàíèÿ äåòîðîæäåíèÿ ó äî÷åðè; ÿ òî íå çíàëà îá íô, òîëüêî ïîñëå åå ðîæäåíèÿ óçíàëà.
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#27
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åñëè âû ïîäðàçóìåâàåòå ôîêîìåëèþ - ïîñìîòðèòå êàê âûãëÿäèò â ñåòè, òî îíà íåñèíäðîìíàÿ è êàê ðàç áîëüøèíñòâî òîëüêî ëåâàÿ âåðõíÿÿ êîíå÷íîñòü
0.62 per 100,000 births Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. âðîäå êàê òàëèäîìèä èëè èçáûòîê âèòàìèíà À ó áåðåìåííîé àññîöèèðóþòñÿ ñ ïðè÷èíîé òàêîãî äåôåêòà ðàçâèòèÿ; ïî ïîâîäó ïîêîëåíèé - ó âíóêà/âíó÷êè îáíàðóæèâàåòñÿ äåôåêò êîñòè íà ïåðâûõ ìåñÿöàõ æèçíè, ïëþñ äðóãèå ïðèçíàêè áîëåçíè, ïðîâîäÿò ãåíåòèêó ó íåå è âñåõ äâóõ âûøå ïîêîëåíèé (òðåòüå óæå óìåðëî êàê ïðàâèëî)
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#28
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íî íåò íà ñåãîäíÿ äàííûõ êàêèå áóäóò âíóêè èëè ïðàâíóêè ó ÷åëîâåêà ñ íåéðîôèáðîìàòîçîì, êîëè÷åñòâî ïðåðûâàíèé áåðåìåííîñòåé èç-çà óðîäñòâ íå ïðåâûøàåò òàêîâîé ó æåíøèí áåç áîëåçíè, âðîäå-êàê âûøå ðèñê ïîëèäàêòèëèè èëè ñèíäàêòèëèè ïðè áîëåçíè ÍÔ1, íî ïðåðûâàòü áåðåìåííîñòü ïðè ëåãêî-êîððèãèðóþùèõñÿ âðîæäåííûõ äåôåêòàõ ïàëüöåâ íèêîìó íå ïðèõîäèò â ãîëîâó
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#29
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Ñïàñèáî åù¸ ðàç çà ïîäðîáíûé è îáñòîÿòåëüíûé îòâåò. Ñêàæèòå, ïîæàëóéñòà, åù¸ òàêîé ìîìåíò (èëè íàäî ïåðåíàïðàâèòü â äðóãîé ðàçäåë?). Ìåíÿ ïåðèîäè÷åñêè áåñïîêîèò êðîâü ïðè äåôåêàöèè, áåç áîëè, íåìíîãî, îòäåëüíî, íåñìåøàííàÿ ñ êàëîâûìè ìàññàìè. Áûëà íåäàâíî ó ïðîêòîëîãà. Âîò çàêëþ÷åíèå. Ñêàæèòå ïîæàëóéñòà, ïî öåëåñîîáðàçíîñòè ëå÷åíèÿ - ñâå÷è ÿ êóïëþ, à ÷òî êàñàåòñÿ òàáëåòîê, íóæíî ëè? [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ]
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#30
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Ñäåëàëà ýõî è óçäã ñîñóäîâ. Ïîñìîòðèòå, ïîæàëóéñòà, ðåçóëüòàòû.  çàêëþ÷åíèè ýõî íàïèñàíî - äèôôóçíûé êàðäèîñêëåðîç. Ýòî ñî÷åòàåòñÿ ñ ôðàçîé âðà÷à,êòî äåëàåò èññëåäîâàíèÿ - "âñ¸ ó âàñ õîðîøî"? 🤔[Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ]
[Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] |