Results 41 to 50 of about 1,801,761 (249)

α-地中海贫血种植前基因诊断妊娠成功

open access: yesZhongshan Daxue xuebao. Yixue kexue ban, 2002
【目的】探讨种植前基因诊断的临床应用。【方法】对1 例夫妇均为东南亚缺失型α-地中海贫血携带者, 经超排 取卵、卵母细胞单精子显微注射受精及胚胎细胞活检, 吸取的单个卵裂球采用针对α-SEA 基因的gap-PCR 引物和荧光探针用 荧光定量PCR 技术进行诊断, 将诊断为不致病的3 个胚胎进行宫腔内移植。【结果】胚胎移植后7 周B 超诊断单胎妊娠, 18 周羊膜腔穿刺产前诊断证实为不致病胎儿。【结论】应用成熟的显微操作技术进行胚胎细胞活检, 活检的单个卵裂球用荧光 定量PCR 技术进行诊断 ...
李晓红
doaj  

AlphaBind, a domain-specific model to predict and optimize antibody–antigen binding affinity

open access: yesmAbs
Antibodies are versatile therapeutic molecules that use combinatorial sequence diversity to cover a vast fitness landscape. Designing optimal antibody sequences, however, remains a major challenge.
Aditya A. Agarwal   +14 more
doaj   +1 more source

Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pediatric relapsed or refractory (R/R) solid tumors carry a dismal prognosis, and postrelapse patient experiences are not well described. We present postrelapse outcomes, including number of R/R events and subsequent therapy regimens.
Matthew T. McEvoy   +5 more
wiley   +1 more source

β-地中海贫血杂合子携带α-地中海贫血1 基因发生率

open access: yesZhongshan Daxue xuebao. Yixue kexue ban, 2001
【目的】研究广东地区人群中β-地中海贫血(β-地贫)杂合子携带α-地中海贫血(α-地贫)1 基因的发生率。 【方法】采用反向点杂交法检测β -地贫基因。采用跨越缺失区断裂点PCR 法检测α-地贫1 基因。【结果】在500 例β-地贫 杂合子DNA 标本中, 共检出43 例合并α-地贫1 , 检出率为8 .6 % 。【结论】广东地区β-地贫杂合子中合并α-地贫1 的发生 率为8.6%, 在遗传咨询和产前诊断过程中需要引起重视。
韩俊英, 曾瑞萍, 胡 彬
doaj  

Alpha-thalassaemia.

open access: yesOrphanet journal of rare diseases, 2010
Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia.It is probably the most common monogenic gene disorder in the world and is especially frequent in Mediterranean countries, South-East Asia, Africa,
Harteveld, C.L., Higgs, D.R.
openaire   +4 more sources

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk   +9 more
wiley   +1 more source

Criterion‐Related Validity of the Neuropsychological Quick Assessment for Screening Cognitive, Motor, and Behavioral Impairments in Patients With Pediatric Brain Tumors: An Observational Pilot Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Neuropsychological complications may impair the qualitative prognosis of patients with pediatric brain tumors. However, multifaceted evaluations cannot be conducted in all patients because they are time consuming and burdensome for patients.
Ami Tabata   +9 more
wiley   +1 more source

Synthesis, characterization and bio-activity of some new α-aminophosphonates

open access: yesBulletin of the Chemical Society of Ethiopia, 2009
A convenient and efficient one-pot reaction has been employed for the synthesis of new -aminophosphonates 4a-4k via Kabachnik-Fields reaction in 65-82 % yields.
A. Balakrishna   +4 more
doaj  

The Efficacy and Safety of Bevacizumab/Irinotecan/Temozolomide (BIT) for Relapsed/Refractory Neuroblastoma: The UK Children's Cancer and Leukaemia Group Experience

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Patients with high‐risk neuroblastoma who either are refractory to induction chemotherapy or relapse following multi‐modal treatment have a dismal prognosis. Based on data from the BEACON trial, since 2021 the UK national guidelines recommend bevacizumab, irinotecan, and temozolomide (BIT) for patients with relapsed/refractory ...
Thomas J. Jackson   +20 more
wiley   +1 more source

Alveolar Soft Part Sarcoma in Pediatric and Young Adult Patients: A Report From the Children's Oncology Group Study ARST0332

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma occurring most commonly in adolescence and young adulthood. Methods We present the clinical characteristics, treatments, and outcomes of patients with newly diagnosed ASPS enrolled on the Children's Oncology Group study ARST0332.
Jacquelyn N. Crane   +11 more
wiley   +1 more source

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