#91
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åñëè ñìîæåòå ïåðåâåñòè, âîò ÷òî ìîæåò áûòü ó âàñ:
In catabolic stress in MMA due to acute illness (e.g. perinatal stress, infection, injury, surgery with endogenous protein breakdown) or when excessive protein is ingested, there is an increase in the offending amino acids (isoleucine, valine, methionine and threonine) as well as in propionic acid, leading to an accumulation of methylmalonic acid with the central emergency biochemical features of profound metabolic acidosis (due to ketone body production and organic acid accumulation), hypoglycemia, and hyperammonemia . Hence, the constellation of laboratory findings in MMA is the following: Metabolic acidosis with anion gap Ketonuria Hypoglycemia Hyperammonemia Hyperglycinemia The ketoacidosis, hyperammonemia and hypoglycemia can explain the lethargy and obtundation that are sometimes seen in MMA patients during an acute crisis. The ketoacidosis also produces vomiting.
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#92
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êîãäà êàòàáîëèçì èëè èçáûòîê áåëêà â ïðèåìå åäû, ïðîèñõîäèò ñáîé, êîòîðûé èäåò ñ àöèäîçîì, êåíîíóðèåé (êåòîíû â ìî÷å), íàêîïëåíèåì àììîíèÿ â êðîâè, ó âàñ íåò âûïèñîê ïîñëå ãîñïèòàëèçàöèè, ãäå áû èçìåðÿëè ÊÎÑ, êåòîíû â ìî÷å, àììîíèé è ïðî÷åå, ÷òîáû äàëî êîñâåííûå ñîâïàäåíèÿ, ÷òî ó âàñ åñòü äàííîå íàðóøåíèå, íî åãî íå âèäèì ñåé÷àñ èç-çà èçáûòêà âèòàìèíîâ?
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#93
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Ïðèíèìàëà ïî 1 â äåíü+ æåëåçî Ñîëãàð
Ïàíêðåàòèí, Êëîïèäîãðåëü Óðñîñàí îòäåëüíî 2 íåäåëè ïèëà, òàê, êàê áûë õðîíè÷åñêèé õîëåöèñòèò  ïðèëîæåíèè ñêðèíøîò ôåìåáèîí, ãäå êîìïëåêñ ñ áîëüøèì ñîñòàâîì È ñåëåöèíê ãäå ñåëåí, öèíê, êàðîòèí |
#94
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Äà, ÿ ñåé÷àñ îãðàíè÷èâàþ ìîëî÷êà, ìàêñèìóì îäèí éîãóðò â äåíü èëè 3 ðàçà â íåäåëþ è âñå, òàê, êàê îò íåå êàøåëü, îòåêàåò íîñîãëîòêà, ìóòíî â ãëàçàõ
Áåëîê ìÿñíîé òîæå îãðàíè÷èëà äî 2-3 ðàç â íåäåëþ, áóêâàëüíî ñòåéê èëè ñàëî èëè æàðåííîå ìÿñî ïî 1-2 ïîðöèè â äåíü |
#95
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ïåðâûé ïîëè-âèòàìèí ìîæåò âàì äàòü êîððåêöèþ ìåòàáîëè÷åñêèõ èçìåíåíèé
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#96
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Äà, âîò îí äëÿ áåðåìåííûõ, ÿ ñïåöèàëüíî âûáðàëà òàêèå äîçèðîâêè è ïîñëå íåãî ìíå ñòàíîâèòñÿ ðåçêî ëó÷øå
Òàê æå ñ óìåíüøåíèåì áåëêà òîæå Äî ýòîãî ìÿñî è ìîëî÷êó åëà åæåäíåâíî, ÿ ïàðó ëåò íàçàä, ïàðíîãî êîðîâüåãî ìîëîêà âûïèëà 1 ñòàêàí, åù¸ íå çíàëà ÷òî ðåàêöèÿ íà ìîëî÷êó ïîÿâèëàñü, áûëî î÷åíü î÷åíü î÷åíü ïëîõî, ÷åðåç ìèíóò 20 âñå îòåêëî, ïîäíÿëàñü òåìïåðàòóðà, ñòàëî ñèëüíî â ñîí êëîíèòü, ïîëóñîçíàòåëüíîå ñîñòîÿíèå, êàê áóäòî òàì ãðàäóñîâ 40, ñóõîñòü âî ðòó ñèëüíàÿ, çâåíåëî â óøàõ, òîøíèëî, æåëóäîê âçäóëñÿ âîîáùåì êîøìàð Ïîñëå ýòîãî ÿ ðåçêî ñîêðàòèëà ìîëî÷íûå ïðîäóêòû, äîìàøíåå áîëüøå íå ïèëà, äà ÿ âîîáùå åãî íå ïèëà, òóò â ãîñòè ïðèåõàëà, óãîñòèëè Âîò ëþáîå íàòóðàëüíîå ìàãàçèííîå òàêóþ æå ðåàêöèþ äà¸ò. Ñûð òâîðîæíûé òîæå |
#97
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îñòàâëþ âàì òàêîå äëÿ ÷òåíèÿ íà ðóññêîì: çäåñü ïðî äåòåé, íî âîîáùå áîëåçíü ìîæåò ïðîÿâèòüñÿ è ïîñëå 18-ò
ÔÅÄÅÐÀËÜÍÛÅ ÊËÈÍÈ×ÅÑÊÈÅ ÐÅÊÎÌÅÍÄÀÖÈÈ ÏÎ ÎÊÀÇÀÍÈÞ ÌÅÄÈÖÈÍÑÊÎÉ ÏÎÌÎÙÈ ÄÅÒßÌ Ñ ÌÅÒÈËÌÀËÎÍÎÂÎÉ ÀÖÈÄÅÌÈÅÉ [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ]
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#98
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Äà, íàõîäèëà êñòàòè îçíîêàìëèâàëàñü, ñåé÷àñ åù¸ ðàç ïî÷èòàþ è âûøå ïåðåâîäèëà òàê æå ñòàòüè, ñïàñèáî çà èíôîðìàöèþ, äëÿ ìåíÿ ýòî î÷åíü âàæíî
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#99
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Ïåðâûé ðàç â 16-17 ëåò ïîëó÷àåòñÿ áûë èíñóëüò èëè ïñåâäî èíñóëüò èëè ÒÈÀ è åù¸ ñðàçó ïðè ðîæäåíèè áûëà íà èñêóññòâåííîì âñêàðìëèâàíèè, áûëà ñèëüíàÿ àëëåðãèÿ ïÿòíàìè íà ãðóäíîå ìîëîêî, ðîäèëàñü 30 íåäåëü
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#100
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ýòî èíñóëüòî-ïîäîáíûå èçìåíåíèÿ, òî åñòü ìåòàáîëèçì ìîçãà òàê ñòðàäàåò, êàê ïðè íåäîïîëó÷åíèè êèñëîðîäà ïðè çàêóïîðêå ñîñóäîâ, ïîñìîòðèòå ñâîè âûïèñêè, âûëîæèòå, ãäå åñòü â àíàëèçàõ ãàçû êðîâè è êîñ, ãèïîãëèêåìèÿ, ïîâûøåíèå àììîíèÿ è äðóãèå. Êàêèì-òî îáðàçîì, Âàì íóæíî îðãàíèçîâàòü òåëå-êîíñóëüòàöèþ âðà÷à èç öåíòðà ïî íàðóøåíèþ îáìåíà âåùåñòâ.
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#101
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åùå ïî äèàãíîñòèêå è âåäåíèþ:
The diagnosis of MMA mainly depends on examination of blood acylcarnitine profile and urinary organic acids, characterized by remarkably increased blood C3, C3/C2 ratio and relatively high concentrations of methylmalonic acid and methyl citrate in urine (Keyfi et al., 2016). Genetic analysis is helpful for the classification of MMA (Chandler and Venditti, 2005). According to responses to vitamin B12, MMA can be divided into two sub-type: Vitamin B12 responsive and vitamin B12 unresponsive. B12 responsive ones are mostly caused by deficiency of coenzyme synthesis (Froese et al., 2009), while unresponsive ones are mostly caused by deficiency of mutase (Pela et al., 2006). Once MMA was suspected or diagnosed, initial treatments must be performed without delay. Basic principle of treatment is to reduce the production of methylmalonic acid and its bypass metabolites, and to accelerate their clearance. For acute management, treatments are stabilizing the patient, restricting protein intake, providing enough calories, and administering drugs including L-carnitine, vitamin B12 (preferably hydroxo-Cbl), biotin, sodium phenylbutyrate and arginine. For long-term management, vitamin B12 responsive MMA patients should be treated with vitamin B12 (1mg, IM, once or twice a week), followed by other oral drugs including vitamin B6, betaine, folic acid, L-carnitine, and sometimes methionine. If concentration of C3 and urinary methylmalonic acid are at appropriate levels, highly restricted diet may not necessarily be taken (Ribas et al., 2010). For vitamin B12 unresponsive cases, specialized amino acid formulations (containing minimal to no isoleucine, methionine, threonine, and proline, etc.) should be used, and nutritional intervention, such as strict restriction on the intake of natural protein and supplements, should be applied. L-carnitine is effective for both types of MMA because of its ability of promoting the excretion of both methylmalonic acid and C3 (Ribas et al., 2010).
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#102
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Äîáðûé äåíü. Äåãåíåðàöèÿ çàäíèõ êàíàòèêîâ ïðîÿâëÿåòñÿ ñèìïòîìàìè, êîòîðûõ ó Âàñ íåò. Ïî êðàéíåé ìåðå ïî îïèñàíèþ. Ñìîòðèòå, ÿ íàøëà íåâðîëîãà â ×åëÿáèíñêå, êîòîðîé ðàññêàçàëà î Âàñ è îáúÿñíèëà, ÷òî íàì íóæíî â âåíó âëèòü æåëåçî. Èäåàëüíî, åñëè Âû ñ íåé ïîäðóæèòåñü è îíà áóäåò Âàñ âåñòè.  öåëîì ñ íåé ìîæíî áóäåò ðåøàòü âñå âîïðîñû î÷íî. Åñëè ÷òî ìû òóò ïîäõâàòèì íþàíñû. Ýòî åå êîíòàêòû: [Ññûëêè äîñòóïíû òîëüêî çàðåãèñòðèðîâàííûì ïîëüçîâàòåëÿì ]
 Ìîñêâå äàííîé ðåäêîé ïðîáëåìîé è äèàãíîñòèêîé çàíèìàåòñÿ âîò ýòîò äîêòîð â ÌÃÍÖ: Ñåìåíîâà Íàòàëèÿ Àëåêñàíäðîâíà. Íóæíî ïîïàñòü ê íåé íà ïðèåì, îíà ïîäòâåðäèò äèàãíîç èëè åãî îïðîâåðãíåò. Ðàññêàæåò , êàê ñ ýòèì æèòü. Ìîæíî íàâåðíîå ñðàçó óçíàòü, êàê ìîæíî , åñëè ÷òî , îíëàéí êîíñóëüòèðîâàòüñÿ â êàêèõ-òî íåïîíÿòíûõ ýêñòðåííûõ ñëó÷àÿõ, åñëè ïîíàäîáèòüñÿ. òê èç ×åëÿáèíñêà íå íàëåòàåøüñÿ. Òî åñòü ìãíö íóæåí äëÿ ïîäòâåðæäåíèÿ òàêîé ðåäêîé ïðîáëåìû è ïîíÿòü âåêòîð äâèæåíèÿ, à â ×åëÿáèíñêå ïðèáèòüñÿ ê äîêòîðó, êîòîðàÿ áóäåò Âàñ âåñòè âñþ îñòàâøóþñÿ æèçíü. Ìíå êàæåòñÿ ýòî îòëè÷íûé âàðèàíò â äàííîé ñèòóàöèè.
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Ñ óâàæåíèåì, Àíàñòàñèÿ Âàëåðüåâíà. Ìîé Instagram àêêàóíò @asarycheva |
#103
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È äà, ýòîò äîêòîð èç ×åëÿáèíñêà íå áóäåò íàçíà÷àòü âñÿêèå ôóôëîìèöèíû.
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Ñ óâàæåíèåì, Àíàñòàñèÿ Âàëåðüåâíà. Ìîé Instagram àêêàóíò @asarycheva |
#104
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Çäðàâñòâóéòå, ñïàñèáî âàì îãðîìíîå, âàøà ïîääåðæêà è ïîìîùü áåñöåííà! Áëàãîäàðþ âñåõ ó÷àñòíèêîâ òåìû, çà êà÷åñòâåííûå ñîâåòû è ïðàâèëüíûå íàïðàâëåíèÿ. Îáðàùóñü â ×åëÿáèíñêå â áëèæàéøåå âðåìÿ ïî âàøèì êîíòàêòàì, â êëèíèêå ïðîôåññîðà Êèíåçåðñêîãî, äåëàëà óçäã àðòåðèé øåè, â òîì ãîäó, òàê, ÷òî êàðòà çàâåäåíà, çàïèøóñü íà äíÿõ, à â ìàå â Ìîñêâó
Ìíå åù¸ íà äíÿõ ôöññõ ×åëÿáèíñêà, ïðåäëîæèë óñòàíîâêó îêêëþäåðà â èõ öåíòðå. |
#105
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Êóïèëà äîïîëíèòåëüíî äî âûÿñíåíèÿ îáñòîÿòåëüñòâ Ýëüêàð è ãëèöèí, òèêè óìåíüøèëèñü, ãîëîâà áîëåå ÿñíàÿ, ïðàâäà 4é äåíü ïüþ. ×òî òî â ìåòàáîëèçìå âèäèìî ìåíÿåòñÿ íà âèòàìèíàõ ñ ôîëèåâîé, ãðóïïû á è êèñëîòàõ
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