In progressive esotropia associated with high myopia and axial elongation, eso-hypodeviation of the eyeball occurs due to ocular dislocation and often progresses to complete fixed esotrop...
Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching. I...
来源:《Journal of the Indian Society of Pedodontics and Preventive Dentistry》 2008 年 26 Suppl 1卷
To report a patient with sterility secondary to severe intrauterine adhesions who underwent sonohysterographic (SHG) lysis for recurrent adhesions following hysteroscopic lysis, and achie...
来源:《Clinical and experimental obstetrics & gynecology》 2008 年 35卷 3期
Muscle wasting is a recognised feature of critical illness and has obvious implications for patient rehabilitation and recovery. Whilst many clinicians believe lean tissue repletion to be...
来源:《Critical care (London, England)》 2008 年 12卷 3期
Sexual medicine healthcare professionals, who do not normally examine men and women with psychiatric disorders, need to be aware that those with psychiatric disorders can and do present w...
Topographical disorientation is marked by difficulty finding one's way in familiar or new environments. The present case study reports findings from a 30-year-old male with encephalomalas...
Gitelman's syndrome is a mild autosomal recessive disorder caused by inactivating mutations of SLC12A3. However, severe phenotype may be associated with compound heterozygous nonfunctiona...
The authors present the case history of a 52-yr-old male patient with a unique association of combined pituitary hormone deficiency (CPHD) and situs inversus totalis. Except for signs and...
来源:《Journal of endocrinological investigation》 2008 年 31卷 1期
We sought to identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital lamellar cataracts and demonstrate the functional analysis with biosoftware...
We report a case of papillary tumor of the pineal region (PTPR) and describe the morphological, immunohistochemical, and neuroimaging findings. A 43-year-old man presented with signs of i...