Localized proton magnetic resonance spectroscopy of a cerebellar tumor in a two-year-old child

Noninvasive localized proton magnetic resonance spectroscopy (MRS) was used for differential diagnosis of a focal brain lesion in a 2.5-year-old girl. The clinical signs were a mild head tilt and neck pain. Magnetic resonance imaging (MRI) revealed a lesion in the right hemisphere of the cerebellum, but its nature remained obscure. In this lesion quantitative determinations of cerebral metabolites by fully relaxed, short-echo-time proton MRS revealed markedly lowered N-acetylaspartate (NAA) and pronounced elevations of choline-containing compounds (Cho) and myo-inositol (Ins), whereas metabolite concentrations in cortical gray matter and white matter were within normal ranges. The metabolite pattern of the lesion indicated loss of vital neuroaxonal tissue (low NAA) and enhanced glial proliferation (high Cho and Ins), which, together with the MRI morphology, suggested a brain tumor. The diagnosis was established by neurosurgical exploration and total extirpation of the tumor. Histology confirmed an astrocytoma (WHO II). After 2 weeks' recovery the child was discharged with no neurological signs.     

Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients

Abstract:  The risks of developing malignant melanoma (MM) include ultraviolet irradiation and genetic factors. To examine the contribution of rare and common variation within known MM genes in sporadic US MM patients, coding regions of known MM susceptibility genes [cyclin-dependent kinase inhibitor 2A ( CDKN2A ), cyclin-dependent kinase 4, melanocortin 1 receptor ( MC1R ) and tyrosinase ( TYR )] were resequenced in 109–135 MM cases. The significance of variants was examined by comparing their frequencies in 390 cancer-free controls. Potential deleterious mutations in CDKN2A were found in two patients and two others had variants of unknown significance. Cases were more likely than controls to harbour the MC1R 'R' variants known or predicted to alter its function ( P  = 0.002), particularly the R160W variant ( P  = 0.0035). The associated TYR R402Q variant (rs1126809*A) was found in 29% of cases, similar to what has been described previously. One MM patient with a family history of MM, who had developed other skin cancers, was homozygous for a novel TYR variant (P406L) of unknown significance. Hence, rare variants in TYR may be important risk factors for skin cancer.     

Cellular and Molecular Foundation for Fracture Healing in Children

Abstract Dealing with pediatric fracture patients requires a funded knowledge of complications and remodeling capability of the youth skeleton to find the accurate therapy decision and to avoid unnecessary invasive procedures. Due to the different mechanical environment, fractures in children occur at specific fracture-vulnerable areas. One of those is the growth plate, which on one hand gives rise to the unique ability of correcting angular deformities by specifically increasing the growth rate in definite regions, and on the other hand leads to complications like growth arrest or angular deformity. The pediatric diaphysis presents the exclusive greenstick fracture, only seen in the growing skeleton, which occurs because of the different composition of the pediatric bone. To understand these very specific features of the youth skeleton, the molecular and cellular basis should be taken into consideration. Therefore, this review will present the common characteristics of skeletal development and fracture healing. An insight into the mechanotransduction as part of the remodeling and self-correcting ability of pediatric bone is given to span the bridge between clinical treatment options and scientific background.     

Discordant repeat size and phenotype in Kennedy syndrome

Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease.     

Acupuncture for the management of primary dysmenorrhea

The effectiveness of acupuncture in managing the pain of primary dysmenorrhea was investigated in a randomized and controlled prospective clinical study. Forty-three women were followed for one year in one of four groups: the Real Acupuncture group was given appropriate acupuncture and the Placebo Acupuncture group was given random point acupuncture on a weekly basis for three menstrual cycles; the Standard Control group was followed without medical or acupuncture intervention; the Visitation Control group had monthly nonacupuncture visits with the project physician for three cycles. In the Real Acupuncture group, 10 of 11 (90.9%) women showed improvement; in the Placebo Acupuncture group, 4 of 11 (36.4%); in the Standard Control group, 2 of 11 (18.2%); and in the Visitation Control group 1 of 10 (10%). There was a 41% reduction of analgesic medication used by the women in the Real Acupuncture group after their treatment series, and no change or increased use of medication seen in the other groups.     

Retrorenal colon: implications for percutaneous diskectomy

It has been recommended that computed tomography (CT) with the patient prone be performed in every patient undergoing percutaneous diskectomy; this would enable detection of a retrorenal location of the colon, which could interfere with the percutaneous procedure. In this evaluation of 346 prone CT studies, only one patient (0.29%) was found to have retrorenal or retropsoas bowel that would have been perforated at diskectomy. Because of this extremely low prevalence, the performance of prone CT in every patient undergoing percutaneous lumbar diskectomy is not believed to be necessary.     

Current status of magnetic resonance imaging of the wrist.

Conventional imaging of the wrist has relied heavily on plain radiography, tomography, fluoroscopy and arthrography. More recently, computed tomography and magnetic resonance imaging (MRI) have been added to this armamentarium. In this article the authors review the normal anatomy of the wrist and demonstrate a variety of pathologic conditions that can be assessed with MRI, including avascular necrosis and tears of the intrinsic and the extrinsic ligaments and the triangular fibrocartilage. MRI of the wrist is still evolving rapidly, and its place in the work-up of wrist disorders is only now being defined.     

Training in élite young athletes (the Training of Young Athletes (TOYA) Study): injuries, flexibility and isometric strength.

Using a mixed longitudinal design, the incidence of injuries, and the development of flexibility and isometric strength of the upper and lower limbs were studied for 2 years in 453 élite young athletes (aged between 9 and 18 years) practising football, gymnastics, swimming or tennis. The children suffered from a low incidence of injuries. Strength and flexibility did not exert a significant role in determining injuries. The rate of injury was not significantly different between the 2 years of the study. Young swimmers showed a greater generalized flexibility. Girls were more flexible than boys between the ages of 13 to 16 years. Athletic children are able to exert greater isometric strength than normal schoolchildren. Boys diverged from the normal population at 14 years, while athletic girls were stronger at all ages. Girls were stronger than boys up to age 12, who were still increasing their muscle strength at 19 years. The average maximal isometric strength exerted in both upper and lower limbs in the four sports was not significantly different. Male gymnasts over 11 years old were significantly stronger than all other athletes.