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51.
Suzena Masih Amita Moirangthem Shubha R. Phadke 《American journal of medical genetics. Part A》2020,182(2):293-295
Renpenning syndrome is one of the well‐characterized causes of X‐linked intellectual disability and is associated with microcephaly and various visceral malformations. Face is considered characteristic but the dysmorphism is subtle. Here we report an Indian adult with a very lean habitus, progressive atrophy of the upper back muscles, microcephaly, loss of cervical lordosis, and upper thoracic scoliosis. Using whole‐exome sequencing, a hemizygous deletion was identified in PQBP1 that leads to a frameshift and premature termination of translation. The loss of normal curvatures of cervical and upper thoracic spine due to muscular atrophy is a characteristic feature, though it may be age dependent. 相似文献
52.
Pernille Mathiesen Tørring Martin Jakob Larsen Charlotte Brasch-Andersen Lotte Nylandsted Krogh Maria Kibæk Lone Laulund Niels Illum Ulrike Dunkhase-Heinl Antje Wiesener Bernt Popp Giuseppe Marangi Tina Duelund Hjortshøj Jakob Ek Ida Vogel Naja Becher Laura Roos Marcella Zollino Christina Ringmann Fagerberg 《European journal of medical genetics》2019,62(2):129-136
Introduction
MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the literature for phenotypical and genetic aspects of previously described patients.Materials and methods
In the search for genetic aberrations in individuals with ID, two of the patients were identified by chromosomal microarray analysis, and five by exome sequencing. One of the individuals, suspected of MED13L-related intellectual disability, based on clinical features, was identified by Sanger sequencing.Results
All 8 individuals had de novo MED13L aberrations, including two intragenic microdeletions, two frameshift, three nonsense variants, and one missense variant. Phenotypically, they all had intellectual disability, speech and motor delay, and features of the mouth (open mouth appearance, macroglossia, and/or macrostomia). Two individuals were diagnosed with autism, and one had autistic features. One had complex congenital heart defect, and one had persistent foramen ovale. The literature was reviewed with respect to clinical and dysmorphic features, and genetic aberrations.Conclusions
Even if most clinical features of MED13L-related intellectual disability are rather non-specific, the syndrome may be suspected in some individuals based on the association of developmental delay, speech impairment, bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance. 相似文献53.
Joost Dekker Bob Boot Luc H. V. van der Woude J. W. J. Bijlsma 《Journal of behavioral medicine》1992,15(2):189-214
Pain and disability are cardinal symptoms in osteoarthritis. The literature is reviewed in order to identify causes of these symptoms at the articular, kinesiological, and psychological level. It is concluded that pain and disability are associated with degeneration of cartilage and bone (articular level), with muscle weakness and limitations in joint motion (kinesiological level), and with anxiety, coping style, attentional focus on symptoms, and possibly depression (psychological level). Biobehavioral mechanisms of pain and disability which explain the observed associations are described and the empirical evidence for these mechanisms is evaluated. Methodological and conceptual deficiencies in the research reviewed are pointed out and suggestions for further research are given. 相似文献
54.
55.
目的探讨三种手术方式对腰椎间盘突出症(LDH)临床疗效的影响。方法 2007年1月~2012年10月于我科行手术治疗LDH的患者中选择110例患者,男63例,女47例;年龄18~73岁,平均45岁;均为单节段椎间盘突出(L3/46例,L4/560例,L5/S144例)。分别采用腰椎间盘髓核摘除术(A组,40例)、椎间融合联合单侧椎弓根螺钉内固定(B组,51例)、腰椎间盘髓核摘除联合棘突间稳定装置X-STOP系统植入(C组,19例),3组患者一般资料比较差异均无统计学意义(0.05)。每位患者术前及术后末次随访时通过完成欧洲五维健康量表及进行Oswestry功能障碍指数评分,比较评分改善情况。结果 110例患者均获得随访,平均随访时间18个月(6~38个月),末次随访时EQ-VAS评分、EQ-5D健康指数和ODI评分组内比较均明显改善(0.05),组间比较均无统计学差异(0.05)。结论对于单纯LDH可行腰椎间盘髓核摘除术,LDH合并腰椎不稳者可行椎间融合+单侧椎弓根螺钉内固定,对于椎间盘突出合并椎管狭窄,尤其是临床症状在屈曲位缓解的患者尤其适宜椎间盘髓核摘除联合棘突间动态内固定。 相似文献
56.
OBJECTIVE: To evaluate an integrated group intervention for siblings and parents designed to increase sibling understanding of and adjustment to chronic illness and developmental disability (CI/DD). METHODS: Fifty-four well siblings (ages 8-13 years) and their parents were recruited through hospital-based and community agencies serving children with CI/DD. Measures of sibling knowledge, sibling adjustment to the disorder, sibling connectedness, and sibling global behavioral functioning were collected before and after the intervention. A subsample of 20 families completed a 3-month follow-up to assess maintenance of results. RESULTS: Sibling knowledge of the child's disorder and sibling connectedness increased, while sibling reports of negative adjustment to the disorder and parent reports of sibling global behavioral functioning decreased significantly from pre- to posttreatment for both boys and girls, regardless of the type of diagnostic condition. Improvements in sibling knowledge, connectedness, and behavioral problems maintained at 3-month follow-up. Parent satisfaction with the program was high. CONCLUSIONS: Results support the future conduct of more controlled evaluation of the integrated sibling and parent group intervention model to improve sibling knowledge of and adjustment to CI/DD. 相似文献
57.
Natalie M. Gallant Kathryn E. Singh Candida Brown Virginia Kimonis Eric A. Muller II 《American journal of medical genetics. Part A》2019,179(3):498-502
ALG11‐Congenital Disorder of Glycosylation (ALG11‐CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG11‐CDG due to novel mutations, review the literature of previously described affected individuals, and further expand the clinical phenotype. Both affected individuals reported here had severe psychomotor disabilities and epilepsy. Their fibroblasts synthesized truncated precursor glycan structures, consistent with ALG11‐CDG, while also showing hypoglycosylation of a novel biomarker, GP130. Surprisingly, one patient presented with normal transferrin glycosylation profile, a feature that has not been reported previously in patients with ALG11‐CDG. Together, our data expand the clinical and mutational spectrum of ALG11‐CDG. 相似文献
58.
Deepika D'Cunha Burkardt Anna Zachariou Chey Loveday Clare L. Allen David J. Amor Anna Ardissone Siddharth Banka Alexia Bourgois Christine Coubes Cheryl Cytrynbaum Laurence Faivre Gerard Marion Rachel Horton Dieter Kotzot Guillermo Lay‐Son Melissa Lees Karen Low Ho‐Ming Luk Paul Mark Allyn McConkie‐Rosell Marie McDonald John Pappas Christophe Phillipe Deborah Shears Brian Skotko Fiona Stewart Helen Stewart I Karen. Temple Frederic T. Mau‐Them Ricardo A. Verdugo Rosanna Weksberg Yuri A. Zarate John M. Graham Katrina Tatton‐Brown 《American journal of medical genetics. Part A》2019,179(10):2049-2055
59.
60.
Leah R. Ketcheson Erin E. Centeio Erin E. Snapp Hayley B. McKown Jeffrey J. Martin 《Disability and health journal》2021,14(1):100952
BackgroundChildren with intellectual and developmental disabilities (IDD) often experience increased barriers to engaging in physical activity (PA) which can stem from lack of gross motor function (GMF) development. Intervening on GMF at an early age can create better opportunities for children with IDD to engage in regular PA. In turn, increased PA can improve health outcomes and increase social skills.ObjectiveThe primary objective of this pilot study was to explore the effectiveness of a community-based GMF-focused PA intervention for improving overall motor skills and PA for children with IDD.MethodsAll study participants (n = 24) engaged in 10 weeks of programming for 1 h each week. A convenience sample was utilized.ResultsResults indicated no statistically significant changes pre to post for motor skill scores. However, a visual analysis of mean changes showed a consistent pattern of increased scores from pre to post on most skills. Additionally, we found that a change in participant locomotor skills significantly predicted change in Moderate to Vigorous Physical Activity (MVPA), F (1,11) = 5.16, Adj R2 = .26, p = .04.ConclusionsThese results suggest individualized attention on GMF may help to increase motor skills for children with IDD. This study adds to the small but growing amount of research examining the efficacy of community based adapted PA interventions. Further, study results should support continued exploration of effective approaches to address the motor delays experienced by children with IDD. 相似文献