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ÍÄÑÒ (hEDS) è ãåíåòè÷åñêèå ìàðêåðû
Ñåìüÿ ñóïðóãè:
ìàòü 63 ãîäà (Æ63) äî÷åðè 42 è 34 (Æ42 è Æ34) âíóêè 16 è 3 (Æ16 è Ì3) Îáùèå ñèìïòîìû äëÿ Æ63, Æ42, Æ34, Æ16: Ãèïåðìîáèëüíîñòü ñóñòàâîâ (îò 5 äî 7 ïî øêàëå Áåéòîíà), àðàõíîäàêòèëèÿ, îñòåîàðòðèò (ÎÀ, êîêñàðòðîç), ñêîëèîç, îñòåõîíäðîç âñåõ îòäåëîâ ïîçâîíî÷íèêà (+ÄÝÏ), õðîíè÷åñêèå ðèíîñèíóñèò (ãàéìîðèò), òîíçèëëèò, ïèåëîíåôðèò, öèñòèò, ÃÝÐÁ, ãàñòðîäóîäåíèò, õîëåöèñòèò (ñ ïåðåãèáîì æåë÷íîãî ïóçûðÿ), íåôðîïòîç ïðàâîé ïî÷êè, ïîëèêèñòîç (ïàðåíõèìíûå îðãàíû), ïðîëàïñû ìèòðàëüíîãî è òðèêóñïèäàëüíîãî êëàïàíîâ ñ ðåãóðãèòàöèåé è ëîæíûìè õîðäàìè, ðåòðîôëåêñèÿ, äèñìåíîðåÿ, ïëîñêîñòîïèå, ôèáðîìèàëãèÿ, òîíêàÿ áàðõàòèñòàÿ êîæà, ãèïîòîíèÿ (íîðìà äàâëåíèÿ 90/60), ïðèçíàêè ÑÄÂÃ, âîçìîæíî ãèïåðïðîëàêòèíåìèÿ (äèàãíîñòèðîâàëàñü ó Æ34, Æ16, à ó Æ63, Æ42 - ãàëàêòîðåÿ) Ó Ì3 ñ íåîíàòàëüíîãî ïåðèîäà îòêðûòîå îâàëüíîå îêíî, ïåðåãèá æåë÷íîãî ïóçûðÿ, äèñïëàçèÿ òàçîáåäðåííûõ ñóñòàâîâ, êèñòà ïî÷êè, îáñòðóêòèâíîå àïíîý, ðåöèäèâû ñèíêîïàëüíûõ ñîñòîÿíèé (ýïèëåïñèÿ íå ïîäòâåðæäåíà äâóìÿ îòäåëüíûìè ñïåöèàëèñòàìè), ïîñòîÿííûå ÎÐÂÈ, äåðìàòèòû íåïîíÿòíîé ýòèîëîãèè, îòñóòñòâèå ïèùåâîãî èíòåðåñà, ïðèçíàêè ÑÄÂà (àóòèçìà) Äîïîëíèòåëüíî: Ó Æ63 è Æ42 ïàðîäîíòîç ñ ïðîãðåññèðóþùåé ðåöåññèåé äåñíû (ïîëíàÿ ïîòåðÿ çóáîâ ó Æ63 â 45 ëåò), ó Ì3 ðåöèäèâèðóþùèé ñòîìàòèò ñ ðîæäåíèÿ Ó Æ34 ãîíàðòðîç, òåíäèíèò, ãèïåðïðîëàêòèíåìèÿ (ìíîãîêðàòíîå ïðåâûøåíèå íîðìû ïðîëàêòèíà) Ó Æ16 ìåíîððàãèÿ (îêîëî 150 ìë åæåìåñÿ÷íî, ñîîòâåòñòâåííî ÆÄÀ), ãèïåðïðîëàêòèíåìèÿ, ïðèçíàêè òðîìáîôèëèè, ÀÂ-áëîêàäà (ïî ÝÊÃ) Ó Æ63 ïðîëàïñ è èíâîëþöèÿ îðãàíîâ ìàëîãî òàçà, öèñòîöåëå, ýíäîìåòðèîç, ôèáðîç ÌÊ, äèàñòîëè÷åñêàÿ äèñôóíêöèÿ ËÆ, óêîðî÷åíèå QT, íàðóøåíèå âíóòðèæåëóäî÷êîâîé ïðîâîäèìîñòè (ïî ÝÊÃ), äåôîðìàöèÿ ìî÷åâîãî ïóçûðÿ, äåôîðìàöèÿ ×ËÑ îáåèõ ïî÷åê, ïîëèêèñòîç ïî÷åê, ïîäæåëóäî÷íîé æåëåçû, äåôîðìàöèÿ æåë÷íîãî ïóçûðÿ, ôèáðîç ïå÷åíè (f2), ñòåàòîãåïàòîç, îñòåîàðòðîç êèñòåé ðóê, êîíòðàêòóðà Äþïþèòðåíà (ëåâàÿ êèñòü) Ýòî âêðàòöå îñíîâíîå, ÷òî äèàãíîñòèðîâàëîñü ó ïðîôèëüíûõ ñïåöèàëèñòîâ è ÷òî îòíîñèòñÿ ê ñèìïòîìàì äèñïëàçèè ñîåäèíèòåëüíîé òêàíè, áåç ðàñøèðåííîé ñèìïòîìàòèêè. Ïî íîçîëîãèè ÑÝÄ 2017 ãîäà èç 13 âàðèàíòîâ ìîæíî áëèæå âñåãî ñîîòíåñòè ñèìïòîìû ñ ãèïåðìîáèëüíûì òèïîì ñèíäðîìà Ýëåðñà-Äàíëîñà (hEDS). Ïî êëèíè÷åñêèì ðåêîìåíäàöèÿì, îïóáëèêîâàííûì â 2019 ãîäó â æóðíàëå "Òåðàïèÿ" ìîæíî ñîîòíåñòè âûøåïåðå÷èñëåííûå ñèìïòîìû ñ íåäèôôåðåíöèðîâàííîé äèñïëàçèåé ñîåäèíèòåëüíîé òêàíè (ÍÄÑÒ). Ëå÷åíèå ñîãëàñíî ðåêîìåíäàöèÿì - òîëüêî ñèìïòîìàòè÷åñêîå. Ïûòàþñü ðàçîáðàòüñÿ â ïðè÷èíàõ çàáîëåâàíèÿ, ñ íàäåæäîé íà âîçìîæíîñòü êîððåêòèðîâàòü è êîìïåíñèðîâàòü ïîñëåäñòâèÿ ïàãóáíîãî ñî÷åòàíèÿ ãåíîâ, îñîáåííî, â îòíîøåíèè äåòåé (Æ16, Ì3). Íàëèöî àóòîñîìíî-äîìèíàíòíîå íàñëåäîâàíèå,ñâÿçü ñ âðîæäåííîé ñëàáîñòüþ ñâÿçî÷íîãî àïïàðàòà è íàðóøåíèåì ñòðóêòóðû ñîåäèíèòåëüíîé òêàíè. Ñðåäè êîëëàãåíîâ òèïà 1, 5 è ñâÿçàííûõ ñ ìîðôîãåíåçîì ÑÒ ãåíîâ óæå îáíàðóæåíî íåñêîëüêî ïîëèìîðôèçìîâ ó Æ42: rs1800012 (COL1A1) [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] (ãåòåðîçèãîòíûé âàðèàíò, ìèíîðíûé àëëåëü À àññîöèèðîâàí ñ ïðîëàïñîì ÎÌÒ, íåñîâåðøåííûì îñòåîãåíåçîì, ïîâðåæäåíèåì ñâÿçîê) rs12722 (COL5A1) [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] (äâå àëëåëè Ò, àññîöèèðîâàíû ñ ÑÝÄ òèï 1 è 7à, íî â ïóáëèêàöèÿõ î÷åíü ñïîðíûå ðåçóëüòàòû) rs6060369 (GDF5) [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] (ÒÒ, àññîöèèðîâàí ñ ÎÀ) rs3918242 (MMP9) [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] (ÒÒ, åñòü àññîöèàöèè ñ ñèíóñèòàìè, ïàðîäîíòîçîì, ýíäîìåòðèîçîì, ïðîëàïñîì ÎÌÒ, òðåâîæíûìè ðàññòðîéñòâàìè, ÎÀ, áîëåçíÿìè ÌÏÑ) rs243865 (MMP2) [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] (CT, ãåòåðîçèãîòíûé âàðèàíò, ìèíîðíûé àëëåëü Ò àññîöèèðîâàí ñ àðòðîçàìè, ðåìîäåëèðîâàíèåì ëåâîãî æåëóäî÷êà ñåðäöà, ðèíîñèíóñèòîì, ýíäîìåòðèîçîì) Õîòåëîñü áû óñëûøàòü ìíåíèå êîìïåòåíòíûõ ñïåöèàëèñòîâ, â êàêèõ åùå ãåíàõ èñêàòü ïðîáëåìó? |
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â ÷åì ñìûñë ïîèñêà? íè êîððåêòèðîâàòü íè êîìïåíñèðîâàòü èõ íå óäàñòñÿ, åñëè âñå æèâû çäîðîâû äî 75-85 ëåò â ñåìüå, òî ëó÷øå îñòàâèòü äåòåé â ïîêîå è äàòü èì ïðèíèìàòü ðåøåíèÿ ïîñëå ñîâåðøåííîëåòèÿ, ìîæåò ê òîìó âðåìåíè ãåíåíè÷åñêèé ïîèñê ïî âñåìó ãåíîìó ñ àâòîìàòè÷åñêîé èíòåðïðåòàöèåé äàííûõ áóäåò ïî ñòîèìîñòè êàê àíàëèç êàëà íà "ÿéöåãëèñò". Ñâîè ñòàðàíèÿ ëó÷øå íàïðàâèòü íà ïîíèìàíèå êàê âåäóòñÿ òàêèå ïàöèåíòû â öèâèëèçîâàííûõ ñòðàíàõ è ïîñòàðàòüñÿ îáåñïå÷èòü ÷òî-òî ïîäîáíîå
Living with joint hypermobility syndrome: patient experiences of diagnosis, referral and self-care [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ] Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ]
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
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Öèòàòà:
Ñóïðóãà íà ÍÏÂÏ óæå äàâíî, îãðàíè÷åíà â ïåðåäâèæåíèè (Æ42). Ñòàðøèé ðåáåíîê ïðîïóñêàåò ïîëîâèíó ó÷åáíîãî ãîäà ïî áîëåçíè (Æ16). Ìëàäøèé ðåáåíîê áûë â ñàäèêå 5 äíåé â öåëîì çà 2 ãîäà (Ì3). Áûëè ó âðà÷åé âñåõ ïðîôèëåé. Ñòðåìëåíèå îáëåã÷èòü ñòðàäàíèÿ äåòåé - î÷åâèäíûé àòðèáóò ðîäèòåëüñêîãî èíñòèíêòà. Äî ñîâåðøåííîëåòèÿ åùå äîæèòü íàäî, âîò ê ýòîìó è ñòðåìèìñÿ. Ëèòåðàòóðà ïî ÄÑÒ çàíèìàåò öåëóþ ïîëêó. Âñå ðåêîìåíäàöèè äàâíî èçó÷åíû, ñèñòåìàòèçèðîâàíû è âçÿòû íà çàìåòêó. Çà îáíîâëåíèÿìè ñëåæó. Äà, â áóäóùåì (êîãäà ïîÿâèòñÿ âîçìîæíîñòü äîñòîâåðíî èíòåðïðåòèðîâàòü ðåçóëüòàòû) ïëàíèðóþ ñäåëàòü ïîëíûé ñèêâåíñ äåòÿì. Ïîæèçíåííîå óñòðàíåíèå ñèìïòîìîâ îáëåã÷àåò ñóùåñòâîâàíèå, íî íèêàê íå ëå÷èò, ïîýòîìó ñìûñë ïîèñêà åñòü. Âåðþ, ÷òî íàóêà íå áóäåò ñòîÿòü íà ìåñòå, âåäü â ïîñëåäíèå 3 ãîäà ïîÿâèëîñü ìíîãî ïóáëèêàöèé, ðàñøèðÿþùèõ ïîíèìàíèå îòäåëüíûõ ìîìåíòîâ ÄÑÒ. Îäíàêî, äî ïîëíîé êàðòèíû î÷åíü äàëåêî. Ñ óâàæåíèåì, Àëåêñàíäð. |
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æåëåçî èãðàåò âàæíóþ ðîëü â ñèíòåçå êîëëàãåíà, ïðè ñèíäðîìå ãèïåðìîáèëüíîñòè ñóñòàâîâ åñòü ðèñê ïîâûø. êðîâîòî÷èâîñòè è èçá. ìåíñòðóàëüíûõ ïîòåðü, íàñòîé÷èâî ïðåäëîæèòå ñâîèì æåíøèíàì îöåíèòü ïîòåðè è èñêëþ÷èòü äåôèöèò æåëåçà, åñëè îí åñòü ó îáåèõ - çàïëàòèòå çà â/â ââåäåíèå èì æåëåçà, ñêîëüêî âû âàì åòî íå ñòîèëî (â ÐÔ åãî íå ââîäÿò áåç àíåìèè, íî ôèíàíñû ðàçðóëèâàþò ëþáóþ ïðîáëåìó â ãîëîâàõ âðà÷åé)
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
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èñêëþ÷åíû ëè ó ãðàìîòíîãî ñïåöèàëèñòà ñåðäå÷íûå ïðîáëåìû ó íèõ? åñëè íåò, ïðèëîæèòå óñèëèÿ
Cardiovascular manifestations are present in up to 15% of subjects with hEDS and HSD and mainly include mild aortic dilatation and mild MVP. We report, for the first time, that SCAD and CeAD occur, respectively, in 1.8% and 0.7% of patients with hEDS/HSD. Until the natural history of aortic dilatation is fully elucidated, a baseline echocardiographic study in adults under evaluation for hEDS is reasonable and those for whom dilatation is noted should have ongoing surveillance.
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
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Öèòàòà:
Àíàëèçû îò 16.01.2024 Æåëåçî 14,31 ìêìîëü/ë Ôåððèòèí 6 ìêã/ë Òðàíñôåððèí 3,37 ã/ë Íàñûùåíèå òðàíñôåððèíà 16,9% ÎÆÑÑ 66 ìêìîëü/ë Ãåìàòîêðèò 36,7% Ãåìîãëîáèí 12,1 ã/äë Ýðèòðîöèòû 4,19 ìëí/ìêë MCV 87 87,6 ôë RDW 15 % MCH 28,9 ïã MCHC 33 ã/äë Òðîìáîöèòû 274 òûñ/ìêë Àíàëèçû îò 18.04.2024 (6-îé äåíü ìåíñòðóàëüíîãî öèêëà, ïîñëå ìàêñèìàëüíîé êðîâîïîòåðè) Æåëåçî 8,0 ìêìîëü/ë Ôåððèòèí 8 ìêã/ë Ãåìàòîêðèò 32,0% Ãåìîãëîáèí 10,7 ã/äë Ýðèòðîöèòû 3,75 ìëí/ìêë MCV 87 85,3 ôë RDW 14 % MCH 28,5 ïã MCHC 33,4 ã/äë Òðîìáîöèòû 238 òûñ/ìêë Ïðåïàðàòû æåëåçà ïðèíèìàåì ïîñòîÿííî, íî òåðÿåì åæåìåñÿ÷íî â òåõ æå îáúåìàõ, êîòîðûå ïîòðåáëÿåì. Çà ãîä ïîïîëíèëîñü òîëüêî äåïî æåëåçà (ôåððèòèí) ñ 2 äî 8 ìêã/ë. Áåç óñòðàíåíèÿ êðîâîòå÷åíèé ïðîáëåìó íå ðåøèòü. Îáîøëè âñåõ âðà÷åé îáëàñòíîé áîëüíèöû, âîïðîñ íå ðåøåí (2021-2022 ãîä). Îáîøëè âñåõ âðà÷åé îáëàñòíîãî äèàãíîñòè÷åñêîãî öåíòðà - âîïðîñ íå ðåøåí (2023 ãîä). Ïîëèôîðìèçìû ãåíîâ ñèñòåìû ãåìîñòàçà (ðîäèòåëè - Æ42 è â ñêîáêàõ ìîè ðåçóëüòàòû): F2 c.*97G>A (20210 G>A; rs1799963) - GG (GG) F5 c.1601G>A (Arg534Gln; 1691 G>A; rs6025) - GG (GG) MTHFR c.665C>T (Ala222Val; 677 C>T; rs1801133) - AG (AG) MTHFR c.1286A>C (Glu429Ala; 1298 A>C; rs1801131) - AC (AA) MTR c.2756A>G (Asp919Gly; rs1805087) - AA (AA) MTRR c.66A>G (Ile22Met; rs1801394) - GG (AG) F13 ñ.103G>T (I63Ò; rs5985) - CC (CC) ITGA2 c.759C>T (Phe253Phe, 807 C>T; rs1126643) - CC (CC) ITGB3 c.176T>C (Leu59Pro; 1565 T>C; rs5918) - TT (TT) SERPINC1 (5301Ñ>T; rs2227589) - CC (CC) F11 (4333A>G; rs1799889) - AG (AG) F12 (rs1801020) - TC (CC) PLAT (rs2020918) - AG (GG)  çîíå ðèñêà ãåíû ôîëàòíîãî öèêëà (MTRR, MTHFR). Íà âèòàìèíû B6,B9, Â12 àíàëèç ñäàâàëè, äåôèöèòà íå îáíàðóæåíî.  ýòîì ìåñÿöå äàâàë äî÷êå âèòàìèí Ê ñ ïåðâîãî äíÿ ÌÖ, êðîâîïîòåðÿ ñîñòàâèëà îêîëî 100 ìë âìåñòî ïðåæíèõ 150. Íå çíàþ, ñîâïàäåíèå èëè åñòü ýôôåêò. Ïî êîàãóëîãðàììå ó äî÷åðè (Æ16) ïîñòîÿííî: Ïîâûøåíû ôàêòîð VIII, ÐÔÌÊ Â àíàëèçàõ íà ãîðìîíû - ïîâûøåí ÃÑÏà Íèêòî íå ìîæåò ïîÿñíèòü ýòîò ìîìåíò ïîêà. Äèíàìèêà ãåìîãëîáèíà ñûâîðîòî÷íîãî æåëåçà è ôåððèòèíà: 21.06.2018: 13.4, 16.82, 116 31.10.2020: 12.5, 14.56, 4 * 20.07.2021: 11.3 *,10.5 , 2 * 14.12.2021: 12.3, 33.22 *, 9 02.03.2022: 11.4 *, 7.49 *, 5 * 19.08.2022: 10.4 *, 12.46, 2 * 19.02.2023: 11.3 *, 10.96, 6 * Ïîñòîÿííàÿ áîðüáà çà æåëåçî. Ìåíñòðóàëüíûå êðîâîòå÷åíèÿ äëÿòñÿ 10-14 äíåé ïðè öèêëå 30-31 äåíü. Ïåðâûå òðè äíÿ äî÷ü ëåæèò, äàæå âñòàòü íå ìîæåò îò áîëè. Ñòàíäàðòíàÿ òåðàïèÿ Òðàíåêñàìîì (äèöèíîíîì) íå ñíèæàåò êðîâîïîòåðþ, íî óñóãóáëÿåò áîëåâûå ñèìïòîìû, ïîýòîìó îòìåíåíà. Äèàãíîç ÆÄÀ (D50.8) îôèöèàëüíî ïîñòàâëåí ãåìàòîëîãîì â 2021 ãîäó. Èíôóçèè âíóòðèâåííî íèêòî íå áåðåòñÿ äåëàòü (è ìû îïàñàåìñÿ). Äî÷êó îò ïîñëåäíåé êàïåëüíèöû â áîëüíèöå åëå îòêà÷àëè. Âðà÷è ñêàçàëè àíàôèëàêñèÿ, íî òðóäíî ñêàçàòü îäíîçíà÷íî, ÷òî ýòî áûëî. Ó ìåíÿ áûëà êëèíè÷åñêàÿ ñìåðòü â 2004 ãîäó (îñòàíîâêà ñåðäöà, îêîëî 5 ìèíóò áåç äûõàíèÿ). Ïîâåçëî ñî ñâîåâðåìåííîé ðåàíèìàöèåé íà ìåñòå. Ñêàçàëè àíàôèëàêòè÷åñêèé øîê, íî â äîêóìåíòàõ íè÷åãî íå óêàçàíî. Ìîæåò åñòü ñâÿçü ñ ðåàêöèåé íà ïðåïàðàòû è ó äî÷åðè. |
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Îáèëèå ìåíñòðóàëüíîé ïîòåðè ìîæåò ñíèçèòü íïâñ, íàïðèìåð öåëåáðåêñ, èëè íàïðîêñåí. Â/â æåëåçî íå äàåò àíàôèëàêñèè, ðàç âû îïàñàåòåñü òî ðåáåíêó ïðèäåòñÿ ñòðàäàòü äî ñîâåðøåííîëåòèÿ, ïî÷èòàéòå ìîè òåìû ïðî ââ æåëåçî è âûáåðèòå îïòèìàëüíûé ïðåïàðàò https://forums.rusmedserv.com/showpo...&postcount=258
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#8
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Ñêàæó âàì îòêðîâåííî, âìåñòî íîðìàëüíîãî ëå÷åíèÿ âû ïðîèçâîäèòå òîííû áåñïîëåçíûõ àíàëèçîâ è ïûòàåòåñü òàì íåâåñòü ÷òî íàéòè, çà ýòè äåíüãè ìîæíî íàíÿòü öåëîå îòäåëåíèå ìåäèêîâ êîòîðîå ïî íåîáõîäèìîñòè áóäåò ëå÷èòü ðåáåíêà [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ]
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#9
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Öèòàòà:
Öåëåáðåêñ íå ïðîáîâàëè. Ïðî Ôåðèíäæåêò çíàþ. Öèòàòà:
 íàñòîÿùåå âðåìÿ ïîâòîðÿåì òîëüêî ÎÀÊ, Æåëåçî, Ôåððèòèí ðàç â 3 ìåñ. Ãåíåòè÷åñêèå òåñòû ó ìåíÿ è ñóïðóãè ñäåëàíû åùå â 2018 ãîäó (îêîëî 600 òûñ. ñíèïîâ). ß òîëüêî èíòåðïðåòèðóþ ðåçóëüòàòû ïî áàçàì PubMed, OMIM è ClinVar. Òàì ëþäè òîæå íåâåñòü ÷òî õîòÿò íàéòè. Âîò, äîâîëüíî ïåðñïåêòèâíîå íàïðàâëåíèå: ncbi.nlm.nih.gov/pmc/articles/PMC5460733/ Ôàêòîð TGF-b ñâÿçàí ñî âñåìè ñèìïòîìàìè ÄÑÒ. |
#10
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åøå ðàçîê: àíàëèçû íà ïîëèôîðôèçìû - ìóñîð, êòîáû âàì èõ áû íå íàçíà÷àë, ìîæåòå îáüåçäèò è âñþ ðîññèþ; íî ñïåöèàëèñòà ðåáåíêó è íå âñòðåòèòå; âû ïîäìåíÿåòå çàáîòîé î çäîðîâüå ðåáåíêà ïðîèçâåäåíèåì êó÷è íåíóæíûõ àíàëèçîâ èç åå êðîâè, ïðî ôåðèíäæåêò íå "çíàòü" íóæíî, à íàéòè âðà÷à, êîòîðûé ñäåëàåò; âïðî÷åì, ïîíèìàþ ÷òî âñ¸ íàïðàñíî, ñòàíåò îíà âçðîñëîé - ñêàæèòå ÷òîáû îòêðûëà íîâóþ òåìó îò ñâîåãî èìåíè, åòó çàêðûâàþ.
(1) a significant delay (mean 36 months (3 years!), range 5-72 (6 years!!!) occurred between menarche and referral to specialty care, (2) HMB had moderate to severe impact on school and physical activities in 60% of patients, and (3) most patients (68%) required escalation of their initial therapy. The mean age was 14.5 ± 1.9 years. Fifteen (57.7%) reported dysmenorrhea, 13 (50%) complained of heavy menstrual bleeding (HMB), 10 (38.5%) reported irregular menses, and 7 (26.9%) sought contraception. Concurrent medical problems were reviewed, as this affected hormone choice. The cohort was stratified into 2 groups: patients whose menstrual cycles were well controlled on a single method (group A), and patients who tried multiple medications (group B). Progesterone-only pills were most commonly used in group A. Eleven (73%) patients in group B tried depot medroxyprogesterone acetate (DMPA), but ultimately a levonorgestrel intrauterine device (IUD) was the most popular final choice of treatment and was used by 4 (27%) patients. --- J Pediatr Adolesc Gynecol. 2020 Jun;33(3):291-295. Gynecologic Management of Pediatric and Adolescent Patients with Ehlers-Danlos Syndrome
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |