Whole genome association study of rheumatoid arthritis using 27 039 microsatellites

A major goal of current human genome-wide studies is to identify the genetic basis of complex disorders. However, the availability of an unbiased, reliable, cost efficient and comprehensive methodology to analyze the entire genome for complex disease association is still largely lacking or problematic. Therefore, we have developed a practical and efficient strategy for whole genome association studies of complex diseases by charting the human genome at 100 kb intervals using a collection of 27,039 microsatellites and the DNA pooling method in three successive genomic screens of independent case-control populations. The final step in our methodology consists of fine mapping of the candidate susceptible DNA regions by single nucleotide polymorphisms (SNPs) analysis. This approach was validated upon application to rheumatoid arthritis, a destructive joint disease affecting up to 1% of the population. A total of 47 candidate regions were identified. The top seven loci, withstanding the most stringent statistical tests, were dissected down to individual genes and/or SNPs on four chromosomes, including the previously known 6p21.3-encoded Major Histocompatibility Complex gene, HLA-DRB1. Hence, microsatellite-based genome-wide association analysis complemented by end stage SNP typing provides a new tool for genetic dissection of multifactorial pathologies including common diseases.     

Modified load sharing rip-stop technique in patients with traumatic transtendinous rotator cuff tear: Surgical technique and clinical outcomes

BackgroundTranstendinous rotator cuff tear is likely to occur due to trauma in sports activities, with a frequency of <2% of total rotator cuff tears. These tears are difficult to treat because of limited tendon tissue in the proximal stump, and standard repair techniques are sometimes ineffective. Few studies have reported on the repair technique and clinical outcomes for transtendinous rotator cuff tear, and an appropriate repair technique has, therefore, not been established. The purpose of this study was to use our modified load sharing rip-stop technique to repair transtendinous rotator cuff tear and to clarify the clinical effectiveness of this technique.MethodsThis was a retrospective case series review of eight patients who underwent the modified load sharing rip-stop technique for repairing traumatic transtendinous rotator cuff tear between January 2013 and June 2017. The eight patients were followed up for at least 2 years (range: 24–41 months). Cuff integrity was evaluated using magnetic resonance imaging at 12 months after surgery using the Sugaya classification. We evaluated the pre- and postoperative ranges of motion, American Shoulder and Elbow Surgeons score, Constant Shoulder Score, and muscle strength at 90° abduction. Data were analyzed using the Mann–Whitney U test and Fisher's exact tests. P < .05 was considered to indicate statistical significance.ResultsSix patients were classified as Sugaya I and two as Sugaya II. ASES score (38.5–90.2, P = .0008), Constant shoulder score (36.5–79, P = .002), flexion (85°–158.1°, P = .002), abduction (85°–157.5°, P = .001), external rotation (38.8°–55°, P = .024), and muscle strength at 90° abduction (2.95–5.39 kg, P = .028) improved significantly. Six patients were able to return to their previous sports activity.ConclusionUsing our modified load sharing rip-stop technique for repair of transtendinous rotator cuff tear, patients obtained good clinical outcomes and could return to sports activities.     

Relationship between depression and risk of malnutrition among community-dwelling young-old and old-old elderly people

Objectives: This study explores the association between nutritional status and depression among healthy community-dwelling young-old (aged 65–74) and old-old elderly (aged 75 and older).

Method: A cross-sectional design was implemented. A total of 274 community-dwelling older individuals (142 young-old; 132 old-old) were assessed using the Geriatric Depression Scale (GDS), Mini-Nutritional Assessment Short-Form (MNA-SF) and Life-Space Assessment. Logistic regression analysis was used to determine if depression was independently associated with risk of malnutrition, stratified by age (young-old vs. old-old).

Results: In the logistic regression model for young-old, being at risk of malnutrition (MNA-SF (≦11) was strongly associated with depression (GDS (≧5;) (likelihood ratio ν?=?6.26; 95% confidence interval [CI]: 1.91–20.49). In contrast, in the old-old group, the model was not statistically significant.

Conclusion: Depression and nutritional status were strongly correlated in young-old but not in old-old community-dwelling elderly. This study reveals that not only the factors correlated with but also the symptoms of depression may vary among different age stratifications of the elderly.     

Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery

An 8-year-old boy underwent a resection for focal cortical dysplasia at the left supplementary motor area (SMA) for the treatment of intractable epilepsy. The manifestations of SMA syndrome, such as transient mutism and right hemiparesis, resolved within a few weeks. Verbal disfluency and impaired executive function, accompanied by impulsivity and distractibility, persisted for more than 12 months. The verbal and behavioral problems caused serious difficulties in the school life of the patient, until they became less evident at 18 months after surgery. Tractography performed 18 months after surgery revealed a defect in the subportion of fronto-parietal association fibers within the left superior longitudinal fascicles. Verbal influency can persist with unusually long duration after resection of SMA during childhood. Although not discernible on the routine neuroimaging, white matter damage beneath the SMA region could result in serious disabilities in executive function. These complications should be recognized for the prediction and assessment of deficits in children after surgical intervention involving this region.     

Muscular Metastasis of Hepatocellular Carcinoma: Case Report and Literature Review

There are few case reports of hepatocellular carcinoma (HCC) metastasis to the skeletal muscle. A 78-year-old man developed a mass in the right shoulder. Washout of contrast medium during contrast-enhanced ultrasonography (CEUS) in both the primary HCC and the metastatic site was detected. Several nodules were scattered throughout the liver on an autopsy. In addition, the moderately differentiated HCC had metastasized to the right teres major muscle. Rare muscular metastasis should be considered if a hepatic tumor is moderately or poorly differentiated HCC. Early washout during CEUS is consistent with a pathological diagnosis of moderately or poorly differentiated HCC.     

A new ceramide from <Emphasis Type="Italic">Ramaria botrytis</Emphasis> (Pers.) Ricken

A new ceramide, (2S,2′R,3R,4E,8E)-N-2′-hydroxyoctadecanoyl-2-amino-9-methyl-4,8-heptadecadiene-1,3-diol (1), was isolated together with four known sterols, 5α,6α-epoxy-3β-hydroxy-(22E)-ergosta-8(14),22-dien-7-one (2), ergosterol peroxide (3), cerevisterol (4) and 9α-hydroxycerevisterol (5), from the fruiting bodies of Ramaria botrytis (Pers.) Ricken (Ramariaceae). The structure of the new compound was elucidated based on spectral data.