Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations.

We report a 9-year-old girl who experienced recurrent dysphagia since infancy. Crohn's disease was suspected because she had aphthous ulcers of the mouth and anal dermatitis with hematochezia. After bougienages of esophageal stenoses and medication for inflammatory bowel disease proved unsuccessful, interdisciplinary re-examination revealed the cause of the symptoms to be an extracutaneous form of dystrophic epidermolysis bullosa, a genetic skin fragility disorder. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, a protein of the epidermal attachment complex, and typically manifests with trauma-induced skin blistering, scarring, nail dystrophy, and, in some cases, mucosal involvement. The present proband never developed skin blisters but had nail dystrophy and erosions of the oral, esophageal, and genitoanal mucosa, which healed with slight scarring. Mutation analysis disclosed compound heterozygosity for recessive mutations in the COL7A1 gene. The paternal mutation 425 A-->G caused abnormal splicing resulting in a premature stop codon. The maternal mutation G2775S led to the substitution of a glycine by a serine in the triple helical domain of collagen VII. This case shows that mucosal disease and esophageal strictures in childhood are not always acquired, but can also represent a genetic defect of dermal-epidermal adhesion, even in the absence of skin blistering.     

Lateral approach with osteotomy of the tibial tubercle in primary total knee arthroplasty.

In a prospective study of 51 patients (61 cases) with primary total knee arthroplasty (valgus knees and/or knees that had undergone previous nonarthroplasty surgery), a lateral approach with osteotomy of the tibial tubercle was performed. In a lateral approach, lateral release techniques form part of the approach. In addition, the medial blood supply to the patella is preserved. An additional tibial osteotomy grants wide exposure with little tension on the extensor mechanism during eversion of the patella. The patients were followed up clinically (51 patients, 61 cases) and radiologically (44 patients, 52 cases) for 1 year. No postoperative tibial fractures, no delayed unions, and no nonunions at the site of the osteotomy were seen. No patellar necrosis occurred. The results after 1 year were good or excellent in 45 (88%) patients, fair in four (8%), and poor in two (4%). Complications related to technique were hematoma (four patients) and compartment syndrome (one patient). These complications occurred early in the series and were eliminated by technical modifications.     

Stress-induced opioid analgesia and activity in mice: Inhibitory influences of exposure to magnetic fields

An exposure for 30 min to a 0.5 Hz rotating magnetic field (1.5–90 G) significantly reduced immobilization stress-induced, opioid analgesia and hyperactivity in CF-1 and C-57 BL strains of mice, respectively. The magnetic exposure also eliminated the day-night rhythm in stress-induced analgesia, with maximum inhibitory effects occurring in the dark period. Pre-treatment with naloxone (1.0 mg/kg) had comparable inhibitory effects on immobilization-induced analgesia and activity. These results suggest that exposure to magnetic stimuli can significantly influence stress-induced activation of endogenous opioid systems and their behavioral and physiological consequences.     

Management strategies for human babesiosis

ABSTRACT

Introduction

Human babesiosis is reported throughout the world and is endemic in the northeastern and northern Midwestern United States and northeastern China. Transmission is primarily through hard bodied ticks. Most cases of severe disease occur in immunocompromised individuals and may result in prolonged relapsing disease or death.     

Lipoprotein (a) and coronary heart disease – is there an efficient secondary prevention?

Lipoprotein (a) (Lp (a)) is one risk factor for the development of cardiovascular diseases. Several studies have shown that Lp (a) hyperlipoproteinaemia has a particular influence on the development of coronary heart disease (CHD). A retrospective single-centre observation study was performed to evaluate the effectiveness of lipid apheresis on the basis of consecutively performed percutaneous coronary interventions (PCI) in patients with high Lp (a) values and angiographically documented CHD.In 23?pts (male 18, age 60.04 ± 0.58 years) with angiographically documented CHD (first manifestation 48.00 ± 9.41 years), elevated LDL cholesterol (144.39 ± 92.01?mg/dl) and Lp (a) (133.04 ± 39.68?mg/dl), 49 PCI and 3 coronary artery bypass grafting (CABG) procedures had been performed prior to the initiation of lipid apheresis. Following the initiation of weekly lipid apheresis, LDL cholesterol was 99.43 ± 36.53?mg/dl and Lp (a) 91.13 ± 33.02?mg/dl. In a time interval of 59.87 ± 49.49 months (median 51.00, range 1–153 months) 15?pts did not require an additional PCI. In 8?pts (7?pts 3?vessel disease, 1?pt 2?vessel disease) 14 PCI – no CABG – were performed after 69.38 ± 71.67 months (median: 32.50, range 17–232 months). The incidence of PCI could thus be reduced by 71.43%.     

Tartrate-resistant acid phosphatase 5b and C-terminal telopeptides of type I collagen as markers for diagnosis of aseptic loosening after total hip replacement

Introduction  

Plain radiography, bone scintigraphy, digital subtraction arthrography and various other techniques can be used to evaluate loosening of hip replacements. These methods are associated with radiation exposure and some of them have an increased morbidity. Furthermore, in some cases the results are not conclusive.     

Organ-Sparing Surgery for Adult Testicular Tumours: A Systematic Review of the Literature

Context

According to current guidelines, radical orchidectomy is the standard treatment for testis tumours of malignant and unknown origin. Testis-sparing surgery (TSS) has recently been proposed as an alternative option in selected cases.

Objective

Our aim was to analyse the cumulative evidence for TSS in the treatment of adult malignant tumours of different histology, including notes on operative technique, indications, complications, and oncologic and functional outcome.

Evidence acquisition

A systematic literature search of the Medline/PubMed database for full-length papers reporting on TSS for adult malignant tumours was performed up to September 2009. Bibliographies of retrieved articles and review articles were also examined. Only those articles with complete data on operative technique, complications, and oncologic or functional outcome were selected. Furthermore, published abstracts at major urologic meetings in the last decade (1999–2009) and guidelines on testis cancer from major oncologic and urologic medical associations were searched and evaluated.

Evidence synthesis

No randomised controlled trials have compared TSS and radical orchidectomy; only retrospective outcome studies and case reports on TSS are available. In patients with small malignant germ cell tumours arising in both or in solitary testes, TSS coupled with local adjuvant radiotherapy ensures good oncologic control and is associated with a preserved endocrine function in most cases. In patients with small Leydig cell tumours, TSS can also be performed with elective indications (healthy contralateral testes), provided that pathology fails to reveal aggressive features. Finally, TSS is an option for patients with small ultrasound-detected, nonpalpable tumours even with elective indications because the incidence of benign definitive histology is high at approximately 80%. The overall complication rate is low (<6%). Data on exocrine and endocrine gonadal function, male body image, and health-related quality of life after TSS are still immature.

Conclusions

TSS can be safely adopted for the treatment of carefully selected cases of tumours of different histology. Prospective multicentre studies are warranted to further qualify TSS as a treatment option to be recommended as an alternative to radical orchidectomy and to explore the perceived functional advantages of testis preservation.     

Epistatic interaction of CREB1 and KCNJ6 on rumination and negative emotionality

G protein-activated K+ channel 2 (GIRK2) and cAMP-response element binding protein (CREB1) are involved in synaptic plasticity and their genes have been implicated depression and memory processing. Excessive rumination is a core cognitive feature of depression which is also present in remission. High scores on the Ruminative Response Scale (RRS) questionnaire are predictive of relapse and recurrence. Since rumination involves memory, we tested the hypothesis that variation in the genes encoding GIRK2 (KCNJ6) and CREB1 mechanisms would influence RRS scores. GIRK2 and CREB1 polymorphisms were studied in two independent samples (n = 651 and n = 1174) from the general population. Strongly significant interaction between the TT genotype of rs2070995 (located in KCNJ6) and the GG genotype of rs2253206 (located in CREB1) on RRS were found in both samples. These results were validated in an independent third sample (n = 565; individuals with personality disorders) showing significant main effect of the variants mentioned as well as significant interaction on a categorical diagnosis of Cluster C personality disorder (obsessional-compulsive, avoidant and dependent) in which rumination is a prominent feature. Our results suggest that genetic epistasis in post-receptor signaling pathways in memory systems may have relevance for depression and its treatment.     

Cerebral metabolic responses to 5-HT2A/C receptor activation in mice with genetically modified serotonin transporter (SERT) expression

Variation in the human serotonin transporter gene (hSERT; 5-HTT) resulting in a life-long alteration in SERT function influences anxiety and the risk of developing affective disorders. The mechanisms underlying the influence of the hSERT gene on these phenotypes remain unclear but may involve altered 5-HT receptor function. Here we characterise the cerebral metabolic response to 5-HT_2A/C receptor activation in two transgenic mouse models of altered SERT function, SERT knock-out (SERT KO) and hSERT over-expressing (hSERT OE) mice, to test the hypothesis that genetically mediated variability in SERT expression alters 5-HT_2A/C function. We found that a constitutive increase in SERT expression (hSERT OE) enhanced, whereas a constitutive decrease in SERT expression (SERT KO) attenuated, 5-HT_2A/C function. Therefore, altered 5-HT_2A/C receptor functioning in response to hSERT gene variation may contribute to its influence on affective phenotypes.