Nagwa Abdel Meguid

**Nagwa Abdel Meguid**  (Arabic: نجوى عبد المجيد) bụ ọkà mmụta mkpụrụ ndụ ihe nketa nke Egypt na onye mmeri 2002 nke L’Oreal UNESCO Award for Women in Science for Africa and the Middle East.[1]  Nnyocha ya achọpụtala ọtụtụ mmụgharị mkpụrụ ndụ ihe nketa na-ebute ọrịa nkịtị dị ka ọrịa X na-emebi emebi na Autism.

Meguid nwere Ph.D.  na Human Genetics.  Mmasị nyocha Nagwa Abdel Meguid gụnyere mkpụrụ ndụ ihe nketa ụlọ ọgwụ, ọrịa neurodevelopmental, teknụzụ DNA mmadụ, na dysmorphology.

## Ndụ
Meguid gụsịrị akwụkwọ na Mahadum Gulf nke Arabia . Ọ bụ onye otu Mahadum Uppsala . 

## Agụmakwụkwọ
Meguid bụ onye isi nke ụlọ nyocha na-eme nchọpụta DNA na mgbanwe nke biochemical na nsogbu mkpụrụ ndụ ihe nketa dịka autism na fragile X syndrome. Ọ bụ onye isi nke Ngalaba Nnyocha na Ụmụaka nwere Mkpa Pụrụ Iche na National Research Center (NRC) dị na Egypt. Meguid bụ onye isi Geneticist na Genetics Institute na Pasadena, California.

Meguid jigidere onye otu na Regional Bio-Ethics Society na Gender Research in Africa n'ime Ozi Nkwukọrịta Ozi maka Empowerment  (GRACE).

## Ihe nrite
Meguid nwere ihe nrite dị ùgwù maka nyocha ya na mkpụrụ ndụ ihe nketa dịka National Award for Scientific Excellence (2009), National Research Centre Appreciation Prize in Medical Sciences (2011), na Distinctive Arab Female Scientist Prize ịkpọ aha ole na ole. O nwetakwala ihe nrite maka ọnọdụ nke Scientific Excellence na Advanced Technology (2008). 

## Nnyocha Banyere Nsogbu Mkpụrụ ndụ Ihe Mere Eme
Meguid enyewo aka na nyocha na nchọpụta nke mgbanwe mkpụrụ ndụ ihe nketa na-akpata nsogbu mkpụrụ ndụ ihe mere eme na ndị Ijipt. Nsogbu mkpụrụ ndụ ihe nketa ndị a gụnyere phenylketonuria, Duchene muscular dystrophy, ncheta sensọ na-anụ ihe na-adịghị ike X-syndrome. Meguid emepụtala ụzọ iji gbochie ụfọdụ mgbanwe mkpụrụ ndụ ihe nketa, nke gụnyere nchọpụta heterozygous na nchọpụta tupu amụọ nwa.

Ọ chọpụtala na ọ na-arịa ọrịa autosomal recessive n'ime ndị Ijipt n'ihi oke ọbara n'etiti ndị mmadụ.

### Fragile X Syndrome na Nnyocha Autism
Meguid bu ụzọ chọpụta mmụba nke mgbanwe X na-adịghị ike n'etiti ụmụ nwoke Ijipt. Mgbanwe ahụ mere 0.9 n'ime 1000 ụmụ nwoke Ijipt. E nwere 6.4% nke mmụba na mgbanwe ahụ ga-eme na ụmụ nwoke na-enweghị isi. Meguid kpebiri na oke mmụba nke X na-adịghị ike n'ime ụmụ nwoke ndị Arab nwere isi na-adịghị mma nwere ike ịbụ n'ihi mmata ma ọ bụ nchọpụta nke ọrịa ahụ. Ụmụ nwoke ndị Ijipt nwere nchọpụta ikpeazụ nke mgbanwe mkpụrụ ndụ ihe nketa a n'oge ha bụ nwata. Enwere ike ịkọwa mgbanwe mkpụrụ ndụ ihe nketa dịka ọrịa ahụ nwere njikọ na mmụba nke alụmdi na nwunye ọbara n'etiti ndị Arab.Mmata igbu oge maka ngbanwe mkpụrụ ndụ ihe nketa bụkwa ihe na-ebutekarị nsogbu ndị ọzọ metụtara ọnọdụ uche.  Meguid kwubiri na oke mgbasa nke ọrịa X na-emebi emebi kwesịrị ịkwalite agụmakwụkwọ pụrụ iche maka ndị ọ metụtara.  Ọ tụrụ aro na atụmatụ ọgwụgwọ onwe onye na-amalite na ụlọ akwụkwọ ọta akara nwere ike inye ụmụ akwụkwọ ohere inwe ọganihu karịa n'afọ agụmakwụkwọ ha. 

Meguid nyochara ọdịdị ụbụrụ na ma ọrịa x na-adịghị ike na ndị ọrịa autistic na ndị ọrịa Autism ma kpebie ma ọ bụrụ na enwere ọdịiche ọ bụla dị ịrịba ama na nsogbu mkpụrụ ndụ ihe nketa. E ji 1.5-T magnetic resonance imaging (MRI) mee ihe. Enweghị ọdịiche dị ịrịba ama na ọdịdị ụbụrụ gụnyere "ọnụ ọgụgụ ụbụrụ zuru oke, ọnụ ọgụgụ mpaghara, akara gyrification, omimi sulcal, na ọkpụrụkpụ ụbụrụ". Ndị ọrịa Autistic nwere mbelata na medial prefrontal bilaterally na hapụrụ anterior cingulate cortices nke ụbụrụ. A chọpụtara na medial prefrontal na anterior cingulate dị ịrịba ama na nghọta mmekọrịta mmadụ na ibe ya na ndị ọrịa autistic na ndị na-adịghị ike X nwere nkwarụ na ha abụọ. Enweghị ihe ndị metụtara ụbụrụ kpatara ụkọ ọgụgụ isi. X na-adịghị ike nke nwere njirimara autistic gosipụtara akara dị elu na ọkwa nkwụsịtụ mmekọrịta mmadụ na ibe ya - ụkọ dị nnọọ iche na nke ndị autistic. Otú ọ dị, a na-ejikọta njirimara X autistic na nke idiopathic autism.

Meguid mepụtara usoro nyocha nke mkpụrụ ndụ dị mfe iji chọpụta ndị na-ebute ọrịa X na-adịghị ike. Onye na-ebu premutation bụ onye nwere n'etiti 55-200 CGG ugboro ugboro na Fragile X (FMR1) gene. Mgbanwe zuru oke nwere ihe karịrị 200 CGG ugboro ugboro. Usoro ahụ gụnyere ngwa ngwa polymerase chain reaction (PCR) -based screening tool for expanded Fragile X Mental Retardation 1 (FMR1) alleles. Nsonaazụ gosipụtara na ụmụ nwoke 16 n'ime ụmụ nwoke 53 nwere CGG na-adịghị mma nke Fragile X gene. 10 n'ime nne ha na 4 n'ime ụmụnne ha nwanyị nwekwara FMR1 premutation. 66.6% alụmdi na nwunye ndị ikwu nọ n'ezinụlọ ndị a mụrụ. E kwubiri na a chụpụrụ ọrịa X na-adịghị ike n'ezinụlọ ndị nne na nna ha nwere ọbara. Kama nke ahụ, ọrịa X na-adịghị ike nwere ike inye aka na nchọpụta mbụ, nke nwere ike belata ọnụ ọgụgụ ụmụaka nwere nsogbu. Site n'iwepụ nje ahụ n'oge, enwere ike ibelata mmetụta nke ọrịa ahụ n'ime ụmụaka na mmepe ha.

### Nchọpụta nke Mgbanwe Ọdịdị Mkpụrụ ndụ Ihe nketa

#### Nchọpụta nke Mgbanwe Mgbanwe Mgbochi na Mkpụrụ ndụ ihe nketa Branched Chain Ketoacid Dehydrogenase Kinase
Meguid chọpụtara mgbanwe na mkpụrụ ndụ ihe nketa Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK).  A chọtara mgbanwe ndị a hụrụ na BCKDK n'ezinụlọ ndị nwere nkụnwụ, autism, na Nkwarụ ọgụgụ isi. N'oge gara aga, a maara BCKDK ka ọ na-akpata ọrịa Maple Syrup Urine (MSUD). Mgbanwe na mkpụrụ ndụ ihe nketa a nwere ike ịgwọ ọrịa autism na epilepsy. protein ahụ nwere ike inactivation nke phosphorylation nke E1α subunit nke ketoacid dehydrogenase (BCKDH). Ọ bụrụ na onye ọrịa nwere homozygous mutation (otu mutation na nna na nne), mgbe ahụ a na-akpali mbelata na BCKDK ozi RNA na protein, E1α phosphorylation, na amino acid nke plasma membrane.

#### Recessive Non-syndromic Deafness: Mgbanwe na GJB2 gene
Meguid kọwara ngbanwe ọhụrụ maka mkpụrụ ndụ GJB2 ( gene maka recessive non-syndromic deafness) na mkpochapụ nke thymine (T) na ọnọdụ 59 (c.59delT) na ngalaba intracellular nke connexin 26.[1].  Mgbanwe a kpatara mmụgharị nke frameshift na amino acid nke iri abụọ na-eduga na njedebe akaghi aka.

## Edensibia

## Njikọ mpụga

* Nagwa Meguid na Researchgate

Otú:Mmadụ ndi di ndụ
Otú:Pages with unreviewed translations