Heritability and familiality of neurological soft signs: evidence from healthy twins, patients with schizophrenia and non-psychotic first-degree relatives.

BACKGROUND: Neurological soft signs (NSS) have long been considered potential endophenotypes for schizophrenia. However, few studies have investigated the heritability and familiality of NSS. The present study examined the heritability and familiality of NSS in healthy twins and patient-relative pairs. METHOD: The abridged version of the Cambridge Neurological Inventory was administered to 267 pairs of monozygotic twins, 124 pairs of dizygotic twins, and 75 pairs of patients with schizophrenia and their non-psychotic first-degree relatives. RESULTS: NSS were found to have moderate but significant heritability in the healthy twin sample. Moreover, patients with schizophrenia correlated closely with their first-degree relatives on NSS. CONCLUSIONS: Taken together, the findings provide evidence on the heritability and familiality of NSS in the Han Chinese population.

Accuracy of MRI in the diagnosis of meniscal tears in patients with chronic ACL tears.

PURPOSE: This study was conducted to evaluate the accuracy of magnetic resonance imaging (MRI) in diagnosing meniscal tears in patients with anterior cruciate ligament (ACL) tears and to determine the frequency of missed meniscal tears on MRI. METHODS: This prospective comparative study was conducted from 2009 to 2012. Patients with ACL injuries who underwent knee arthroscopy and MRI were included in the study. Two radiologists who were blinded to the clinical history and arthroscopic findings reviewed the pre-arthroscopic MR images. The presence and type of meniscal tears on MRI and arthroscopy were recorded. Arthroscopic findings were used as the reference standard. The accuracy, sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV) of MRI in the evaluation of meniscal tears were calculated. RESULTS: A total of 65 patients (66 knees) were included. The sensitivity, specificity, accuracy, PPV, and NPV for the MRI diagnosis of lateral meniscal tears in our patients were 83, 97, 92, 96, and 90 %, respectively, whereas those for medial meniscus tears were 82, 92, 88, 82, and 88 %, respectively. There were five false-negative diagnoses of medial meniscus tears and four false-negative diagnoses of lateral meniscus tears. The majority of missed meniscus tears on MRI affected the peripheral posterior horns. CONCLUSION: The sensitivity for diagnosing a meniscal tear was significantly higher when the tear involved more than one-third of the meniscus or the anterior horn. The sensitivity was significantly lower for tears located in the posterior horn and for vertically oriented tears. Therefore, special attention should be given to the peripheral posterior horns of the meniscus, which are common sites of injury that could be easily missed on MRI. The high NPVs obtained in this study suggest that MRI is a valuable tool prior to arthroscopy.

Epidemiology & management of complex ankle fractures in the United Kingdom: A multicentre cohort study.

BACKGROUND: Patient factors are known to contribute to decision making and treatment of ankle fractures. The presence of poor baseline mobility, diabetes, neuropathy, alcoholism, cognitive impairment, inflammatory arthritis or polytrauma can result in a higher risk of failure or complications. Limited evidence is available on the optimum management for this challenging cohort of patients herein described as complex ankle fractures. This UK multicentre study assessed and evaluated the epidemiology of ankle fractures complicated by significant comorbidity and patient factors and use of specialist surgical techniques such as hindfoot nails (HFN) / tibiotalarcalcaneal (TCC) nails and enhanced open reduction and internal fixation (ORIF). PATIENTS AND METHODS: A UK-wide collaborative study was performed of adult distal AO43/AO44 fractures, associated with 1 or more of the patient factors listed above. Primary outcomes included patient demographics, comorbidities, surgical technique and implants. Secondary outcomes included surgical complications and early post-operative weight bearing instructions. Statistical analysis was performed to assess patient and fracture characteristics on outcome, including propensity matching. RESULTS: One-thousand three hundred and sixty patients, with at least one of the above complex factors, from 56 centres were included with a mean age of 53.1 years. 90.2% (1227) patients underwent primary fixation which included 78.9% (1073) standard open reduction internal fixations (ORIF), 3.25% (43) extended ORIF and 8.1% (111) primary HFN / TCC. Overall wound complications and thromboembolic events were similar in the hindfoot nail group and the ORIF group (11.7% vs 10.7%). Wound complications were greater in diabetic patients versus non-diabetic patients independent of fixation method (15.8% vs 9.0%). After propensity matching for comorbidities and fracture type, overall complications were lower in the hindfoot nail (11.8%) and extended ORIF groups (16.7%), than the standard ORIF group (18.6%). CONCLUSION: Only a minority of complex ankle fractures are treated with specialised techniques (HFN/TCC or extended ORIF). Though more commonly used in older and frail patients their perceived advantages are often negated by a reluctance to bear weight early. These techniques demonstrated a better complication profile to standard ORIF but hindfoot nail with joint preparation for fusion was associated with more complications than hindfoot nail for fixation. LEVEL OF EVIDENCE: III.

Iodine-129 for determining the origin of salinity in groundwater in Pampanga, Philippines.

Assessing groundwater vulnerability from salinity contamination is vital and relevant to meet the increasing demand for freshwater. Iodine-129 (129I, half-life = 15.7 million years), a radioisotope of iodine, was used as an environmental tracer for the possible origin of salinization in groundwater (e.g., natural rock weathering, evaporated water, seawater, brine fossil water, contamination). In July 2017 (wet season), thirty-two (32) water samples were taken from production wells of different localities in Pampanga, a province in the Philippines that relies heavily on groundwater for freshwater sources. Hydrogeochemical (mainly Cl) and stable water isotopes (δ2H and δ18O) were able to identify seven samples potentially affected by seawater intrusion. The salinity origin of these samples was investigated using iodine-129 and iodine-127 isotopes by generating two graphs: 129I vs. chloride and 129I/127I ratio vs. 1/127I. 129I vs. Cl graph was capable of showing a clear distinction between different salinity origins. Five out of the seven samples were being affected by evaporated water, one sample from possible wastewater, and one sample from brine fossil water. A conceptual model was produced to summarize the results. Compiled end-members (e.g., natural brine, seawater, modern rain) were plotted in the 129I/127I ratio vs. 1/127I graph to show the interaction between two recharge sources. The results of this study will be helpful to the government, civil society, and other organizations for monitoring, policymaking, and management of the groundwater and the subsurface formations that will be crucial to continuously supply the freshwater needs of the present and future generation.

[Patterns of tooth agenesis. A numerical code for describing dental agenesis]. / Patronen van ontbrekende gebitselementen. Een numerieke code om dentale agenesieën te beschrüjven.

A genetic or developmental disorder can be the basis for the failure of a normal dental development, resulting in the absence of 1 or more teeth. For genetic research or the development of a plan of treatment, it is important to determine whether certain patterns of dental agenesis are more common than others. In the present article a new method is described where unique values are assigned to certain patterns of tooth agenesis. Using the idea of binary arithmetic, the absence or presence of teeth are represented by 1 and 0, and translated into corresponding unique values, the 'tooth agenesis code' (TAC). This procedure has advantages over existing methods in that it allows for easier data analysis, can contribute to genetic research into the aetiology of tooth agenesis and enables researchers to communicate unequivocally the phenotypes of their studied case. It can also be used in other areas of oral pathology that require pattern recognition.

Quantitative assessment of breast density from digitized mammograms into Tabar's patterns.

We describe a semi-automated technique for the quantitative assessment of breast density from digitized mammograms in comparison with patterns suggested by Tabar. It was developed using the MATLAB-based graphical user interface applications. It is based on an interactive thresholding method, after a short automated method that shows the fibroglandular tissue area, breast area and breast density each time new thresholds are placed on the image. The breast density is taken as a percentage of the fibroglandular tissue to the breast tissue areas. It was tested in four different ways, namely by examining: (i) correlation of the quantitative assessment results with subjective classification, (ii) classification performance using the quantitative assessment technique, (iii) interobserver agreement and (iv) intraobserver agreement. The results of the quantitative assessment correlated well (r2 = 0.92) with the subjective Tabar patterns classified by the radiologist (correctly classified 83% of digitized mammograms). The average kappa coefficient for the agreement between the readers was 0.63. This indicated moderate agreement between the three observers in classifying breast density using the quantitative assessment technique. The kappa coefficient of 0.75 for intraobserver agreement reflected good agreement between two sets of readings. The technique may be useful as a supplement to the radiologist's assessment in classifying mammograms into Tabar's pattern associated with breast cancer risk.

Use of soy-protein formulas and soyfood for feeding infants and children in Asia.

Soybeans have been cultivated and consumed in Asia for many centuries. Soy products can be found in all households in Asian countries, and Asian children begin to consume soy formulas and soy products at a very young age. In a study of soy exposure in a group of healthy Singaporean children < 10 y of age, 70% had consumed soy products and of those > 95% had consumed soy products before the age of 18 mo. Soy products are commonly used as food flavorings and for weaning Asian children with lactose intolerance or allergy to cow-milk protein. The widespread use of soy formulas and soy products by Asian children is mainly due to the high nutritive value and palatability of these products.

PIP: Soybean cultivation and consumption in Asia dates back to 2838 BC with a documented evidence of soy farming between the 7th and 11th century. In most Asian countries soy products have become staples, which include soy cooking oil, soy flour, soy sauce, soy beverages, various forms of soybean curd (tofu) and soy infant formulas. A study conducted that evaluates the daily lactose intake among Singaporean children found that approximately 10% of the children were consuming soy formulas. This study examines the use of soy-protein formulas and soyfood for feeding infants and children in Asia. Results confirm the consumption of soy products by 90% of healthy Asian children, with 95% of these children consuming soyfood before 18 months of age. The use of tofu during weaning was more preferred by many Asian mothers because of its availability, soft consistency, high palatability, and high nutritional value. On the other hand, the use of soy formulas has been proven effective in treating children with lactose intolerance compared to cow-milk protein. Furthermore, the use of soy formulas was found to significantly reduce the prevalence of atopic diseases in the first 6 months of life, as well as for children with infantile atopic dermatitis, recurrent bronchiolitis, and bronchial asthma.

Evaluation of live renal donors with three-dimensional contrast-enhanced magnetic resonance angiography in comparison to catheter angiography.

BACKGROUND: Catheter angiography is traditionally used to determine renal arterial anatomy in live renal donors. Three-dimensional (3D) contrast-enhanced magnetic resonance imaging (MRA) has been suggested as a noninvasive replacement. We assessed the possibility of using MRA in live renal donors in Malaysia. METHODS: Twenty-six consecutive live renal donors were recruited from 2000 to 2002. All potential donors underwent evaluation of the renal arteries using both techniques. Angiographic findings from both modalities were subsequently compared with surgical findings at the time of donor nephrectomy. The total number and diameter of the arteries and the presence of early branching and renal abnormalities were noted. RESULTS: Both angiographic modalities were able to detect multiple renal arteries with catheter angiography having a sensitivity of 100% and MRA a sensitivity of 97%. MRA missed one 1-mm artery due to a low index of suspicion. Renal artery caliber measurements were not significantly different between the two methods. However, both techniques tended to overestimate the caliber of the renal arteries when compared with measurements taken at surgery. Early branching was found in two arteries at the time of surgery, but only one was detected by both techniques. Renal cysts seen on MR were not detected by catheter angiography. CONCLUSIONS: Our findings suggest that noninvasive MRA is a promising substitute for catheter angiography to evaluate the renal arteries of live donors.

Comparison of progression of renal failure in children with hypoplastic-dysplastic kidneys and chronic glomerulonephritis.

A comparative study was made on two groups of children comprising 20 patients with renal hypoplasia/dysplasia in one group and 12 patients with chronic glomerulonephritis (GN) in the other, presenting with chronic renal failure (CRF) in the Department of Paediatrics, Singapore General Hospital and National University Hospital between 1975 and 1989. The age of onset of CRF, the progression of renal failure and the presence of various clinical complications were analysed and compared. The mean age of onset of CRF was earlier in patients with renal hypoplasia/dysplasia (p less than 0.001) but the progression of renal failure in these patients were slower (p less than 0.005). Hypertension occurred more frequently in the chronic GN group (p less than 0.001) while urinary tract infection (UTI) occurred more frequently in the renal hypoplasia/dysplasia group (p less than 0.004). With the early onset of renal failure and slow deterioration of renal function in patients with renal hypoplasia/dysplasia, the provision of good conservative treatment for renal failure is most important in the management of these patients. In the chronic GN patients however, with the rapidity of deterioration of renal function, early preparation for replacement therapy becomes more imminent. However, renal replacement therapy in end-stage renal failure (ESRF) is costly and not readily available, it is more prudent to delay the onset of ESRF by providing effective conservative treatment of renal failure which includes the early recognition and treatment of hypertension in chronic GN and UTI in renal hypoplasia/dysplasia.

Primary monosymptomatic nocturnal enuresis in Singapore--parental perspectives in an Asian community.

Primary monosymptomatic nocturnal enuresis (PMNE) is often not openly discussed in Asian societies. We report the parental view of PMNE in Singapore, its impact on patients and their families and the traditional beliefs and its influence on subsequent management. A screening questionnaire was used in evaluating 30 children enrolled in a clinical trial on the use of oral Desmopressin for the treatment of PMNE. Primary monosymptomatic nocturnal enuresis was familial in 56.7% of patients. Fifty per cent of them were previously unevaluated. Earlier remedial attempts included bedtime fluid restriction and voiding (100%), incentive measures (43.3%), traditional practices (26.7%), punishment (20%), drugs (16.7%), psychotherapy (100%) and bladder training (3.3%). Perceived causes of PMNE were maturational delay (50%), deep sleep (50%), familial (43.3%), behavioural problems (43.3%) and excessive fluid intake (26.7%). Reasons for seeking treatment included restricted outdoor activities (90%), parental fatigue (86.7%), disrupted sleep for the household (46.7%) and fear of underlying pathology (26.7%). Perceived adverse effects on patients included social stigma (83.3%), disrupted sleep (33.3%) and impaired school performance (13.3%). Primary monosymptomatic nocturnal enuresis can thus be a chronic distressing problem in Asian communities.

[Ectopic eruption of the maxillary first permanent molar]. / Ectopische eruptie van de eerste blijvende molaar in de bovenkaak.

Ectopic eruption of the maxillary first permanent molar is an eruption disturbance. This article discusses current literature views on diagnosis, prevalence, aetiology and treatment of this disturbance. It is a relatively uncommon disturbance and its aetiology remains unclear. A combination of extraction of the maxillary second primary molar and cervical headgear treatment seems the treatment of choice, although this treatment option is successful in only 70% of cases. More research has to be conducted to compare the effectiveness of treatment options.

Metachronous inflammatory myofibroblastic tumour in the temporal bone: case report.

OBJECTIVE: We report an extremely rare case of metachronous inflammatory myofibroblastic tumour in the temporal bone. METHOD: Case report and review of the world literature on metachronous inflammatory myofibroblastic tumour. RESULTS: Inflammatory myofibroblastic tumour in the temporal bone is rare, and metachronous inflammatory myofibroblastic tumour in the temporal bone has never been reported in the English medical literature. We report a case of inflammatory myofibroblastic tumour in the right temporal bone in a 27-year-old woman presenting with right-sided otalgia and progressive hearing loss. A metachronous lesion was discovered in the left temporal bone one year later. The patient underwent surgical excision of the tumour via canal wall down mastoidectomy for both lesions. Long term steroids were prescribed after both surgical procedures. At follow up three years after the last procedure, the patient remained free of disease. CONCLUSION: To the best of our knowledge, this is the first reported case of metachronous inflammatory myofibroblastic tumour in the temporal bone.

Trends in the growth of ethnic Chinese children living in London.

Height, weight and triceps skinfold thickness of children aged 5 years and under were measured in a semi-longitudinal study of 50 Chinese families in London. Heights and weights of their mothers were also measured once. The children were taller and heavier than Chinese children in Hong Kong, but height-forage, when expressed as a percentage of the UK median value, declined after two years of age. The pattern of growth of triceps skinfold did not conform to the UK standards.

Rupture of the lateral ventricle secondary to a fourth ventricle tumour resulting in an indirect nontraumatic cerebrospinal fluid fistula.

We present a rare indirect nontraumatic cerebrospinal fluid (CSF) fistula secondary to a fourth ventricle ependymoma. The fistula resulted from rupture of the left temporal horn, distant from the tumour. The fistula was well demonstrated by MRI. High-resolution CT demonstrated a defect in the roof of the sphenoid sinus, but no leakage of CSF was seen on CT cisternography.

Efficacy and safety of one year of growth hormone therapy in steroid-dependent nephrotic syndrome.

OBJECTIVES: To study the efficacy and safety of 1 year of growth hormone (GH) therapy in children with steroid-dependent nephrotic syndrome. STUDY DESIGN: A prospective pilot, open study in which GH (mean dose 0.32 mg/kg per week) was administered for 1 year to 8 children with steroid-dependent nephrotic syndrome requiring prednisolone (mean dose 0.46 mg/kg per day) to maintain remission. Steroid dependence was defined as recurrence of proteinuria within 2 weeks of discontinuation of prednisolone, or when the dose was lowered below a critical level. At entry, all patients had been steroid dependent for at least 1 year. Anthropometric and bone mineral density measurements after treatment were compared with 1-year pretreatment data. RESULTS: Pretreatment mean (+/-SD) chronologic age was 12.6 (+/-3.1) years, with a mean bone age of 9.1 (+/-2.0) years, with delayed puberty in five patients. The mean height velocity increased from 3.7 (+/-1.4) to 9.4 (+/-2.1) cm/yr after 1 year of treatment (p < 0.05). The mean height standard deviation score increased from -1.4 (+/-1.6) to -0.3 (+/-1.1), (p < 0.05). In the spine, the mean bone mineral density increased from 0.50 to 0.64 gm/cm2 (p < 0.05), and in the femoral neck, from 0.55 to 0.64 gm/cm2 (p < 0.05) after 1 year of treatment. Mean lean body mass increased from 58.1% to 62.6% (p < 0.01). There were no significant changes in creatinine clearance, fasting glucose, fasting insulin, or glycosylated hemoglobin levels. The mean bone age increased to 11.4 (+/-2.4) years, and pubertal stage advanced in 2 patients. CONCLUSIONS: One year of GH therapy is effective in improving the height standard deviation score, height velocity, bone mineral density, and lean body mass of children with steroid-dependent nephrotic syndrome. There were no significant adverse effects. However, the bone age accelerated at a greater pace than the height age, and further studies are required to define the role of GH therapy in steroid-dependent nephrotic syndrome.