搜索结果: 1-6 共查到“基础医学 Family”相关记录6条 . 查询时间(0.046 秒)
Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals
Sjogren-Larsson Skin disease Mutation Iran
2015/9/25
Background: Sjogren Larsson Syndrome (SLS; OMIM: 270200) is an autosomal recessive neuro-cutaneous disorder characterized by mental retardation, congenital ichthyosis and spastic paraplegia. SLS is ca...
A Qualitative Study of HIV Treatment Adherence Support from Friends and Family among Same Sex Male Couples—Support for HIV Medication Adherence from Friends and Family
Social Support Gay Couples Antiretroviral Adherence HIV/AIDS
2013/2/21
HIV-positive individuals seek support for medication adherence from a variety of sources—spouses, family and friends. We conducted a qualitative study of twenty same sex male couples where we asked me...
Four cases of myotonia congenita in a Turkish family
Myotonia Thomsens disease autosomal dominant inheritance
2010/2/24
Myotonia congenita is a rare muscular disorder with autosomal dominant or autosomal recessive inheritance, and is characterized by painless myotonia. A 44-year-old mother presented at our clinic with ...
Using Paradox in Family Therapy among Iranian Families: A Case Report
Couple therapy Family therapy Iran Methods
2009/12/7
Objective:
This study assessed the effect of paradox in family therapy.Paradox, as a therapeutic tool, has been developed by a number of therapists,especially Mara Selvini Palazzoli.
Method: Th...
Red Cell Membrane Protein Abnormalities of A Family with Hereditary Spherocytosis in Adana
Hereditary Spherocytosis Spectrin Ankyrin Band 3 Red Cell Membrane
2009/7/3
To investigate erythrocyte membrane protein abnormalities in Çukurova region we studied a family observed to be hereditary spherocytosis. Diagnosis was made basis of clinical features. By densi...
一个常染色体显性遗传先天性眼外肌纤维化家系A Family History of Congenital Fibrosis of the Extraocular Muscle with Autosomal Dominant Inheritance
眼外肌纤维化 家系 常染色体显性遗传
2008/1/20
摘要为寻找疾病相关基因，通过随访调查、体检、病理检查等手段，发现了一眼外肌纤维化家系4代中有15人患有眼外肌纤维化综合征，主要表现先天性上眼睑下垂、下颌上举、头后仰、双眼固定下转位和被动牵拉试验阳性，眼外肌病理检查结果为肌纤维化和玻璃样变性，所有阳性体征者除眼球运动限制程度有区别外，其他眼部症状基本相同。遗传分析表明，该疾病属常染色体显性遗传。该家系可作为寻找眼外肌纤维化疾病相关基因的宝贵资源。A...