Altered temporal characteristics of the rectoanal inhibitory reflex in patients with abdominal distension

The rectoanal inhibitory reflex (RAIR) is important in gas and stool evacuation. We examined RAIR features in patients with chronic constipation who exhibited bloating with and without abdominal distension, to determine whether alterations in RAIR may be a factor in the pathogenesis of abdominal distension. Seventy-five female patients with chronic constipation with or without abdominal distension were included in the study. The presence or absence of abdominal distension was assessed according to the Rome II questionnaire. All patients underwent both RAIR and rectal sensitivity testing, and specific RAIR parameters were analyzed. Patients were divided into two groups: abdominal bloating with distension (D, n = 55) and abdominal bloating without distension (ND, n = 20). D had a longer time to the onset of anal sphincter inhibition (latency of inhibition) (P = 0.03) compared with ND. In logistic regression analysis, a combination of age, latency of inhibition and the time measured from onset of inhibition to the point of maximum inhibition predicted abdominal distension (P = 0.002). There were no differences between groups for the time from point of maximum inhibition to recovery and for the percentage of internal anal sphincter relaxation. This is the first study to examine the role of RAIR in patients with abdominal distension. Female patients with constipation and abdominal distension exhibited differences in the temporal characteristics of, but not in the degree of, anal sphincter relaxation compared with patients without distension. Since this study was uncontrolled, further studies are necessary to determine the contribution of altered anorectal reflexes to abdominal distension.     

Biochemical-markers for the diagnosis of bone metastasis: a clinical review

The preferential metastasis of cancer cells to skeleton not only disrupts the process of bone remodeling and influences the therapeutic decision, but also results in severe complications. Although the current diagnosis of bone metastases (BM) relies on bone imaging techniques, they are not sensitive enough for early detection as well as they are invasive and expensive to use. Since factors derived from bone metabolism are potentially useful to diagnose metastatic bone disease in cancer patients, a number of clinical trials have been carried out on this area. Results suggest that higher levels of bone biomarkers are associated with an increased risk of BM. As a result, biochemical-markers are showing prospects in early diagnosis of BM. This review summarizes the available evidence on the clinical use of biochemical-markers in the diagnosis of various cancers with high incidence of BM including breast, prostate and lung.     

The clinical utility of discriminant functions for the differential diagnosis of microcytic anemias

Several groups of authors have derived discriminant functions (DFs) based on red cell indices (primarily MCH, MCV, and RDW) that can be used to differentiate iron deficiency from thalassemia minor. The Technicon H*1 analyzer provides a direct MCHC measurement (termed the CHCM), in addition to the conventional computed value (Hgb/PCV). To evaluate the clinical utility of red cell discriminant analysis, chart review was performed in 176 cases for which hemoglobin characterization and quantitation studies had been requested. Six published discriminants were evaluated for cases of clearly defined iron deficiency anemia and thalassemia minor. Overall diagnostic efficiency ranged from 50%-82%, and the diagnostic performance of three of the discriminants failed to achieve statistical significance. Mean values for both MCHC and CHCM were significantly lower in patients with iron deficiency than in patients with other causes of microcytic anemia. It was also observed that MCHC was significantly greater than CHCM in patients with iron deficiency anemia, but not in patients with other causes of microcytic anemia. Both MCHC and the difference between MCHC and CHCM showed potential value as parameters for the differential diagnosis of iron deficiency from other causes of microcytic anemia. It was noted, however, that in 67% of the cases studied, the use of a DF could not have resolved the diagnosis to the extent that hemoglobin characterization and quantitation studies were no longer indicated.     

The genetic factors contributing to hypospadias and their clinical utility in its diagnosis

Hypospadias is among the most common congenital malformations in male neonates. It results from abnormal penile and urethral development, but is a multifactorial disorder that is highly heterogeneous, with several genetic and environmental determinants. Monogenic and chromosomal abnormalities are present in approximately 30% of cases, although the genetic factors contributing to hypospadias remain unknown in 70% of cases. While defects in androgen synthesis can lead to this malformation, mutational analyses have shown several genes, such as sonic hedgehog, fibroblast growth factors, bone morphogenetic proteins, homeobox genes, and the Wnt family, are involved in the normal development of male external genitalia. Mutations in the genes of penile development (e.g., HOX, FGF, Shh) and testicular determination (e.g., WT1, SRY), luteinizing hormone receptor, and androgen receptor have also been proposed to be implicated in hypospadias. Here we review the recent advances in this field and discuss the potential genes that could determine the risk of hypospadias.     

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis

Werner syndrome (WS) is an adult onset segmental progeroid syndrome caused by mutations in the WRN gene. The WRN gene encodes a 180 kDa nuclear protein that possesses helicase and exonuclease activities. The absence of WRN protein leads to abnormalities in various DNA metabolic pathways such as DNA repair, replication and telomere maintenance. Individuals with WS generally develop normally until the third decade of life, when premature aging phenotypes and a series of age-related disorders begin to manifest. In Japan, where a founder effect has been described, the frequency of Werner heterozygotes appears to be as high as 1/180 in the general population. Due to the relatively non-specific nature of the symptoms and the lack of awareness of the condition, this disease may be under-diagnosed in other parts of the world. Genetic counseling of WS patients follows the path of other autosomal recessive disorders, with special attention needed for cancer surveillance in relatives. Molecular diagnosis of WS is made by nucleotide sequencing and, in some cases, protein analysis. It is also of potential interest to measure WRN activities in WS patients. More than 50 different disease-causing mutations in the WRN gene have been identified in WS patients from all over the world. All but one of these cases has mutations that result in the premature termination of the protein. Here we describe the clinical, molecular and biochemical characteristics of WS for use by medical professionals in a health care setting. Additional information is available through the International Registry of WS ().     

Sex differences in the clinical and serologic presentation of early lyme disease: Results from a retrospective review

Background: Lyme disease is the most common vector-borne disease in the United States, and the number of reported cases has more than doubled between 1992 and 2008. Few studies have explicitly examined sex-based differences in the clinical presentation of or serologic response to early Lyme disease. It is unknown whether the sex-based variability observed in other infectious diseases is relevant to this clinical setting.Objective: This study retrospectively examined clinical and serologic differences by sex among a community case series of patients with a current or past episode of confirmed early Lyme disease.Methods: This was a retrospective, consecutive case series of adult patients in Maryland enrolled from August 2002 to August 2007 meeting criteria for a current or past episode of confirmed early Lyme disease. Clinical variables and patients' self-report surrounding illness onset were abstracted through chart review. All serologic tests drawn within 3 months of illness onset were interpreted using Centers for Disease Control and Prevention criteria.Results: In a total of 125 patients, there were no significant differences in clinical presentation by sex. The initial self-misdiagnosis rates for men and women were 10% and 18%, respectively (P = NS). Among the 62 patients with a serologic test as part of their clinical evaluation, 50% of men had a positive, 2-tier result compared with 32% of women (P = NS). Among the 41 patients with a positive ELISA, median ELISA values (3.4 vs 2.0; P = 0.03) and median number of immunoglobulin G (IgG) bands (4 vs 2; P = 0.03) were significantly higher among men.Conclusions: In this small, retrospective sample, we found evidence for sex-based differences in the magnitude of ELISA and IgG serologic response to early Lyme disease. Such differences could have implications for appropriate diagnosis, treatment, and disease classification. Larger, prospective studies are needed to replicate the results found in this study and to examine their relationship to sex-based immunologic variability.     

Cell blocks in cytopathology: a review of preparative methods,utility in diagnosis and role in ancillary studies

The cell block (CB) is a routine procedure in cytopathology that has gained importance because of its pivotal role in diagnosis and ancillary studies. There is no precise review in the published literature that deals with the various methods of preparation of CB, its utility in diagnosis, immunocytochemistry (ICC) or molecular testing, and its drawbacks. An extensive literature search on CB in cytology using internet search engines was performed for this review employing the following keywords: cell block, cytoblock, cytology, cytopathology, methods, preparation, fixatives, diagnostic yield, ancillary and molecular studies. Ever since its introduction more than a century ago, the CB technique has undergone numerous modifications to improve the quality of the procedure; however, the overall principle remains the same in each method. CBs can be prepared from virtually all varieties of cytological samples. In today's era of personalized medicine, cytological specimens, including CBs, augment the utility of cytological samples in analysing the molecular alterations as effectively as surgical biopsies or resection specimens. With the availability of molecular targeted therapy for many cancers, a large number of recent studies have used cytological material or CBs for molecular characterization. The various techniques of CB preparation with different fixatives, their advantages and limitations, and issues of diagnostic yield are discussed in this review.     

艰难梭菌感染的临床诊断与治疗研究进展

艰难梭菌感染可引起相关腹泻,且在住院患者中的发病率不断升高.根据腹泻的程度不同,艰难梭菌相关腹泻可分为轻、中、重和暴发型4型,临床诊断除了血常规外,毒素鉴定与内镜诊断也是重要的辅助检查手段.目前在临床治疗中仍以甲硝唑或万古霉素等抗生素进行药物治疗,可通过益生菌来调节肠道菌群实现艰难梭菌相关腹泻的预防.     

The clinical characteristics and direct medical cost of influenza in hospitalized children: a five-year retrospective study in suzhou, china

Background

There have been few studies on children hospitalized with influenza published from mainland China. We performed a retrospective review of medical charts to describe the epidemiology, clinical features and direct medical cost of laboratory-proven influenza hospitalized children in Suzhou, China.

Methods

Retrospective study on children with documented influenza infection hospitalized at Suzhou Children Hospital during 2005–2009 was conducted using a structured chart review instrument.

Results

A total of 480 children were positive by immuno-fluorescent assay for influenza during 2005–2009. The hospitalizations for influenza occurred in 8–12 months of the year, most commonly in the winter with a second late summer peak (August-September). Influenza A accounted for 86.3%, and of these 286 (59.6%) were male, and 87.2% were <5 years of age. The median length of hospital stay was 7 days. Fever was the most common symptom, occurring in 398 (82.9%) children. There were 394 (82.1%) children with pneumonia and 70.2% of these hospitalized children had radiographic evidence of a pulmonary infiltrate. One hundred and twelve children (23.3%) required oxygen treatments and 13 (2.7%) were transferred to the ICU. Multivariable logistic regression showed that compared with the ≤6 months children, those aged >60 months old had shorter hospital stay (OR = 0.45); children with oxygen treatment tended to have longer hospital stays than those without oxygen treatment (OR = 2.14). The mean cost of each influenza-related hospitalization was US$ 624 (US$ 1323 for children referred to ICU and US$ 617 for those cared for on the wards). High risk children had higher total cost than low-risk patients.

Conclusion

Compared to other countries, in Suzhou, children hospitalized with influenza have longer hospital stay and higher percentage of pneumonia. The direct medical cost is high relative to family income. Effective strategies of influenza immunization of young children in China may be beneficial in addressing this disease burden.     

The positional characteristics of patients with obstructive sleep apnea: a single institute retrospective study in Japan

Sleep and Biological Rhythms - Obstructive sleep apnea (OSA) causes sleep-disordered breathing (SDB) due to upper airway obstruction. The severity of OSA changes with position during sleep....     

Surgical treatment of scoliosis: a review of techniques currently applied

Background Context

Research employing gait measurements indicate asymmetries in ground reaction forces and suggest relationships between these asymmetries, neurological dysfunction and spinal deformity. Although, studies have documented the use of centre of pressure (CoP) and net joint moments in gait assessment and have assessed centre of mass (CoM)-CoP distance relationships in clinical conditions, there is a paucity of information relating to the moments about CoM. It is commonly considered that CoM is situated around S2 vertebra in normal upright posture and hence this study uses S2 vertebral prominence as reference point relative to CoM.

Purpose

To assess and establish asymmetry in the CoP pattern and moments about S2 vertebral prominence during level walking and its relationship to spinal deformity in adolescents with scoliosis.

Patient sample

Nine Adolescent Idiopathic Scoliosis subjects (8 females and 1 male with varying curve magnitudes and laterality) scheduled for surgery within 2–3 days after data collection, took part in this study.

Outcome measures

Kinetic and Kinematic Gait assessment was performed with an aim to estimate the CoP displacement and the moments generated by the ground reaction force about the S2 vertebral prominence during left and right stance during normal walking.

Methods

The study employed a strain gauge force platform to estimate the medio-lateral and anterior-posterior displacement of COP and a six camera motion analysis system to track the reflective markers to assess the kinematics. The data were recorded simultaneously.

Results

Results indicate wide variations in the medio lateral direction CoP, which could be related to the laterality of both the main and compensation curves. This variation is not evident in the anterior-posterior direction. Similar results were recorded for moments about S2 vertebral prominence. Subjects with higher left compensation curve had greater displacement to the left.

Conclusion

Although further longitudinal studies are needed, results indicate that the variables identified in this study are applicable to initial screening and surgical evaluation of scoliosis.     

Straining urethral reflex: description of a reflex and its clinical significance. Preliminary report

The present communication describes a reflex, which I call 'straining urethral reflex', and discusses its clinical significance. The study was performed on 17 healthy volunteers with a mean age of 39.6 years. The intrarectal pressure (representative of the intra-abdominal pressure) was measured by means of a balloon-tipped catheter introduced into the rectum and connected to a pressure transducer. A concentric needle electrode was introduced into the external urethral sphincter. The subject was asked to strain, and the urethral sphincter electromyographic activity and the intrarectal pressure were recorded. Two types of straining were investigated: sudden and slow. The procedure was repeated in 10 subjects after urethral sphincter infiltration with xylocaine or saline. On sudden straining, the external urethral sphincter contracted. The anesthetized sphincter did not respond, while the saline-infiltrated sphincter responded to sudden straining. Slow sustained straining did not evoke the reflex response. The latency of the reflex was calculated. The external urethral sphincter contraction on sudden straining guards against the involuntary opening of the vesical neck and urinary leak under stress conditions of a sudden increase in the intra-abdominal pressure. The reflex may prove significant in the diagnosis of micturition control disorders. It can thus be included as an investigative tool in urologic practice.     

The use of dynamic elastomeric fabric orthosis suits as an orthotic intervention in the management of children with neuropathic onset scoliosis: A retrospective audit of routine clinical case notes

Background

To date the main treatment approach for neuropathic onset scoliosis has utilised thoracic lumbar sacral orthoses (TLSO) to stabilize the spine and enable stable sitting. Dynamic elastomeric fabric orthoses (DEFOs) may achieve both of these aims if used as an early intervention. Due to a lack of evidence in this area, a retrospective audit of case notes was undertaken to understand current orthotic practice investigating the usage, outcomes and clinical characteristics of treated children with neuropathic onset scoliosis. Clinical notes of 180 children at risk for, or identified with, scoliosis were audited using a search matrix to identify diagnostic group, spinal muscle tone, Gross Motor Functional Classification Scale (GMFCS) level, orthotic treatment modalities, scoliosis specific data, surgical interventions, adaptive technologies used, and outcome measurements reported.

Results

Of the 180 notes examined, 85 were male; mean age nine years one month [SD four years seven months]. Spinal muscle tone was reported in 137 cases: 122/137 presented as low tone, 4/137 high tone, 6/137 fluctuating tone and 5/137 typical tone. Scoliosis was confirmed in (77/180) of whom (39/77) used a DEFO. Another (43/180) had a spinal curve developing, of whom (22/43) used a DEFO. The remaining (60/180) had no report of spinal curvature, but used a DEFO as a preventative measure. GMFCS scores were reported for 49 children of whom 14/49 were graded as level 4 and 17/49 level 5. Of the children with scoliosis who had spinal curve shapes reported, 48/60 had a C-shape presentation and 12/60 had an S-shape.

Conclusions

The findings confirm previously reported papers in children with neuropathic onset scoliosis in relation to curve shape and GMFCS levels. It provides some evidence of the role DEFOs may have in the management of these children, and highlights the need for further research in this area due to the lack of peer-reviewed publications.

     

Patient-specific initial wall stress in abdominal aortic aneurysms with a backward incremental method

Patient-specific wall stress simulations on abdominal aortic aneurysms may provide a better criterion for surgical intervention than the currently used maximum transverse diameter. In these simulations, it is common practice to compute the peak wall stress by applying the full systolic pressure directly on the aneurysm geometry as it appears in medical images. Since this approach does not account for the fact that the measured geometry is already experiencing a substantial load, it may lead to an incorrect systolic aneurysm shape. We have developed an approach to compute the wall stress on the true diastolic geometry at a given pressure with a backward incremental method. The method has been evaluated with a neo-Hookean material law for several simple test problems. The results show that the method can predict an unloaded configuration if the loaded geometry and the load applied are known. The effect of incorporating the initial diastolic stress has been assessed by using three patient-specific geometries acquired with cardiac triggered MR. The comparison shows that the commonly used approach leads to an unrealistically smooth systolic geometry and therefore provides an underestimation for the peak wall stress. Our backward incremental modelling approach overcomes these issues and provides a more plausible estimate for the systolic aneurysm volume and a significantly different estimate for the peak wall stress. When the approach is applied with a more complex material law which has been proposed specifically for abdominal aortic aneurysm similar effects are observed and the same conclusion can be drawn.     

The utility of the acromion marker cluster (AMC) in a clinical population

IntroductionThe acromion marker cluster (AMC) is a non-invasive scapular motion tracking method. However, it lacks testing in clinical populations, where unique challenges may present. This investigation resolved the utility of the AMC approach in a compromised clinical population.MethodsThe upper body of breast cancer survivors (BCS) and controls were tracked via motion capture and scapular landmarks palpated and recorded using a digitizer at static neutral to maximum elevation postures. The AMC tracked the scapula during dynamic maximum arm abduction. Both single (SC) and double calibration (DC) methods were applied to calculate scapular angles. The influences of calibration method, elevation, and group on mean and absolute error with two-way fixed ANOVAs with interactions (p < 0.05). Root mean square errors (RMSE) were calculated and compared.ResultsDC improved AMC estimation of palpated scapular orientation over SC, especially at higher arm elevations; RMSE averaged 11° higher for SC than DC at maximum elevation, but the methods were only 2.2° different at 90° elevation. DC of the AMC yielded mean error values of ∼5–10°. These approximate errors reported for AMC with young, lean adults.ConclusionsThe AMC with DC is a non-invasive method with acceptable error for measuring scapular motion of BCS and age-matched controls.