Association and gene-gene interaction of SLC6A4 and ITGB3 in autism.

Autism is a heritable neurodevelopmental disorder with substantial genetic heterogeneity. Studies point to possible links between autism and two serotonin related genes: SLC6A4 and ITGB3 with a sex-specific genetic effect and interaction between the genes. Despite positive findings, inconsistent results have complicated interpretation. This study seeks to validate and clarify previous findings in an independent dataset taking into account sex, family-history (FH) and gene-gene effects. Family-based association analysis was performed within each gene. Gene-gene interactions were tested using extended multifactor dimensionality reduction (EMDR) and MDR-phenomics (MDR-P) using sex of affecteds and FH as covariates. No significant associations with individual SNPs were found in the datasets stratified by sex, but associations did emerge when we stratified by family history. While not significant in the overall dataset, nominally significant association was identified at RS2066713 (P = 0.006) within SLC6A4 in family-history negative (FH-) families, at RS2066713 (P = 0.038) in family-history positive (FH+) families but with the opposite risk allele as in the FH- families. For ITGB3, nominally significant association was identified at RS3809865 overall (P = 0.040) and within FH+ families (P = 0.031). However, none of the associations survived the multiple testing correction. MDR-P confirmed gene-gene effects using sex of affecteds (P = 0.023) and family history (P = 0.014, survived the multiple testing corrections) as covariates. Our results indicate the extensive heterogeneity within these two genes among families. The potential interaction between SLC6A4 and ITGB3 may be clarified using family history as an indicator of genetic architecture, illustrating the importance of covariates as markers of heterogeneity in genetic analyses.

Comparison of the efficacy of different treatment modalities for Kimura's disease.

The objective of this study was to investigate the clinical features of Kimura's disease in the head and neck region and to compare the local recurrence rate between three therapies used for the treatment of this disease. The clinicopathological information of 46 hospitalized patients suffering from Kimura's disease in the head and neck region over a 10-year period was reviewed retrospectively. All lesions were clinically observed in the head and neck region. These 46 patients underwent a total of 58 treatments; nine patients underwent multiple treatments due to local recurrence. Of the 58 treatments, 32 involved surgical excision alone, 24 involved surgical excision and postoperative low-dose radiotherapy (20-40Gy), one was a combination of ultrasound-guided core needle biopsy and radiotherapy, and one was a combination of incisional biopsy and subsequent radiotherapy. During the follow-up period, nine patients suffered 16 local recurrences. The recurrence rate of surgical excision combined with low-dose radiotherapy was much lower than that of surgical excision alone or radiotherapy alone (both P<0.05). It is concluded that Kimura's disease is a benign condition with a good prognosis, and surgical excision combined with postoperative low-dose radiotherapy is associated with the lowest local recurrence rate in the treatment of this disease.

Analysis on kidney injury-related clinical risk factors and evaluation on the therapeutic effects of hemoperfusion in children with Henoch-Schonlein purpura.

OBJECTIVE: To investigate risk factors related to kidney injury in children with Henoch-Schonlein purpura (HSP) and to study the therapeutic effects of hemoperfusion (HP) on kidney injury in HSP children, providing clinical evidence for early prevention and treatment of HSP. PATIENTS AND METHODS: Children who suffered from HSP for the first time were selected as study objects and they were followed up for 12 months. Single factor analysis and multi-factor Logistic regression analysis were performed for children's demographic characteristics (age, gender), clinical manifestations (rash duration time, rash recurrence times, digestive tract hemorrhage, abdominal pain, arthralgia, HSP recurrence) and laboratory indexes (peripheral blood WBC, PLT, ESR, CRP, serum IgG, serum IgA, IgM, serum C3, serum C4, TC, TG, HDL, LDL). Meanwhile, participants were divided into treatment group (HP treatment) and control group, and the protective effects of HP on renal function of HSP children were discussed. RESULTS: Single factor analysis indicated age ≥ 6 years, rash recurrence ≥ 3 times, rash duration time ≥ 1 month, digestive tract hemorrhage, peripheral blood PLT, WBC, serum TC and serum LDL levels had statistically significant differences between the two groups. Multi-factor Logistic regression analysis indicated rash recurrence ≥ 3 times, digestive tract hemorrhage, decline of peripheral blood PLT count, and increases of serum TC and LDL were closely related to kidney injury of HSP children. After discharge, kidney injury comparison between treatment group and control group in follow-up had a statistical difference. CONCLUSIONS: Rash recurrence ≥ 3 times, digestive tract hemorrhage, decline in peripheral blood PLT count, increases of serum TC and LDL, are risk factors of kidney injury in HSP children. HP can protect renal function of HSP children.

Salivary gland tumours in a northern Chinese population: a 50-year retrospective study of 7190 cases.

The aims of this study were to investigate the epidemiological and clinical characteristics of epithelial salivary gland tumours in a northern Chinese population and to evaluate the current TNM classification system. A demographic and descriptive analysis of 7190 epithelial salivary gland tumours was performed. There were 4654 benign tumours and 2536 malignant tumours. The percentage of tumours located in the parotid, submandibular, sublingual, and minor salivary glands was 62.66%, 9.92%, 2.57%, and 24.85%, respectively; 22.26%, 35.76%, 92.97%, and 61.89% of the tumours, respectively, were malignant. Over 90% in the tongue and maxillary sinus were malignant. Warthin tumour, salivary duct carcinoma, and squamous cell carcinoma were predominant in males, while basal cell adenoma, myoepithelioma, and pleomorphic adenoma were predominant in females. Further, 2.55% of the tumours were in children and adolescents: 44.81% of the tumours were malignant, as opposed to 35.02% in adults. According to the 7th TNM classification, the percentages of T3 and stage III tumours were approximately 10%. Salivary gland tumours show distribution patterns according to histological type, location, and patient age and sex. The limitations of the current TNM classification of salivary gland carcinoma should be considered and revisions made.

Combined application of ultrasound and SPECT/CT has incremental value in detecting parathyroid tissue in SHPT patients.

PURPOSE: The goal of this study is to investigate whether combined application of ultrasound and 99mTc-sestamibi SPECT/CT had the incremental value in accurately detecting parathyroid tissue in patients with SHPT over either method alone. PATIENTS AND METHODS: Sixty patients with SHPT on hemodialysis were evaluated preoperatively with parathyroid 99mTc-sestamibi SPECT/CT scintigraphy and ultrasound prior to parathyroidectomy. The sensitivity, specificity and accuracy of 99mTc-sestamibi SPECT/CT scintigraphy, ultrasound and combined application were determined respectively. RESULTS: The sensitivity, specificity and accuracy of ultrasound were 81% (155/192), 47% (17/36) and 82% (172/228), respectively. The sensitivity, specificity and accuracy of 99mTc-sestamibi SPECT/CT were 85% (163/192), 58% (21/36) and 89% (184/228) respectively. The accuracy of 99mTc-sestamibi SPECT/CT in the diagnosis of parathyroid tissue in patients with SHPT is significantly higher than that of ultrasound. The sensitivity, specificity and accuracy of combined application of ultrasound and 99mTc-sestamibi SPECT/CT were 93% (178/192), 61% (22/36) and 97% (200/228). The sensitivity, specificity and accuracy of combined application of ultrasound and 99mTc-sestamibi SPECT/CT were higher than those of either ultrasound or 99mTc-sestamibi SPECT/CT. CONCLUSIONS: The combined application of ultrasound and 99mTc-sestamibi SPECT/CT had incremental value in accurately detecting parathyroid tissue in patients with SHPT over either method alone.

Comparative effects of (SBE)7m-beta-CD and HP-beta-CD on the stability of two anti-neoplastic agents, melphalan and carmustine.

The purpose of this study was to evaluate and compare the potential use of two parenterally safe beta-cyclodextrins derivatives, (SBE)7m-beta-CD and HP-beta-CD, as solubilizers and stabilizers for melphalan and carmustine, two very unstable antineoplastic agents. Phase solubility and chemical stability of the compounds in the presence of the cyclodextrins were studied. UV, fluorescence, and several NMR techniques were used to probe the potential causes for the differences observed. The phase solubility method was found to provide only qualitative data on the binding of melphalan to the cyclodextrins since rapid degradation and the presence of products of degradation complicated the interpretation of the results. Qualitatively, however, the solubilizing potential was similar for the two cyclodextrins. The chemical stability studies indicate that both of the drugs had similar binding constants for both cyclodextrins; however, the intrinsic reactivities in the complexes were significantly lower with (SBE)7m-beta-CD than for HP-beta-CD. The main cause for this distinct difference appeared to correlate with differences in the site of binding and the polarity of the binding site.

New injectable melphalan formulations utilizing (SBE)(7m)-beta-CD or HP-beta-CD.

The objective of this work was to evaluate the potential of using (SBE)(7m)-beta-CD and HP-beta-CD as enabling excipients to improve on the current melphalan injectable formulation. Melphalan is an anti-neoplastic agent formulated for parenteral use as a sterile, non-pyrogenic, freeze-dried powder. It is marketed by Glaxo-Wellcome as ALKERAN((R)) for Injection (Alkeran). A major concern with melphalan therapy, other than its intrinsic cytotoxicity and biocompatibility, arises from its marginal aqueous solubility and chemical stability; thus, co-solvents are used in the current two-vial formulation. Because of the two-vial system, the product is also inconvenient to use. Two approaches to improve melphalan's formulation utilizing cyclodextrins, including the use of aqueous (SBE)(7m)-beta-CD or HP-beta-CD solutions as the reconstitution diluents, and/or the use of (SBE)(7m)-beta-CD as a freeze-drying excipient in a melphalan formulation, are presented. Results showed that, when the cyclodextrins were used as diluents, the use of organic co-solvents can be eliminated and the shelf-life of the reconstituted melphalan greatly enhanced. When the freeze-dried melphalan/(SBE)(7m)-beta-CD formulation was prepared, the formulation was found to be stable; and a simplified one-vial delivery system was achieved. In conclusion, the parenterally safe beta-cyclodextrins derivatives can provide promising alternatives and improved formulations for melphalan injectable and perhaps similar problematic drugs.

Applicability of the general nutritional status score to patients with oral and maxillofacial malignancies.

The general nutritional status (GNS) score was used to assess the nutritional status of 127 consecutive patients with oral and maxillofacial malignancies. Forty-six of our patients (36.2%) were undernourished (group 2), while 81 (63.8%) were in good nutritional condition (group 1). Comparison of nutritional laboratory tests between these two groups showed that the differences in serum albumin, transferrin, and creatinine-height index (CHI) had statistical significance, yielding an excellent correlation between the GNS score and the nutritional laboratory test. Undernourished patients had a significantly higher postoperative complication incidence (48.3%) than well-nourished patients (19.4%) (chi 2 = 6.637; P < 0.01), indicating that the GNS score can be used as a prognostic index.

Multiple primary tumours of the parotid gland.

The authors reviewed the clinical and histopathological records of 69 cases of multiple primary tumours (MPT) of the parotid gland treated at Peking University School of Stomatology. It accounted for 3.4% of all parotid tumours (2055 patients). Fifty-nine patients were male and 10 were female. The median age was 58 (range 24-80) years. The average time interval between the diagnosis of bilateral parotid tumours was 5 years (range 5 months-15 years). Three clinical types were classified as bilateral parotid tumours (31 cases), unilateral multifocal parotid tumours (29 cases), and the combination of bilateral parotid tumours with unilateral multifocal parotid tumours (9 cases). Histologically, Warthin's tumour was the most common type (60 patients), followed by pleomorphic adenoma (8 cases). Three cases were malignant including adenoid cystic carcinoma, squamous cell carcinoma and mucoepidermoid carcinoma. The histopathologies of tumours were of the same type in 63 patients, and distinctly different in six patients. The tumours were found and diagnosed synchronously in 48 patients, and metachronously in 21 patients. Since some parotid tumours are MPTs, careful preoperative diagnosis is necessary. B-mode ultrasound is the technique of choice for the screening of MPT. Meticulous intraoperative inspection and palpation of the glandular tissues and periglandular lymph nodes are necessary.

Tumours of the minor salivary glands. A clinicopathologic study of 243 cases.

243 patients with tumours of the minor salivary glands were analysed clinicopathologically. The palate was the most common location for the lesions. Mixed tumours (pleomorphic adenomas) were the most common benign tumour type. Muco-epidermoid carcinoma and adenoid cystic carcinoma were the dominant types of malignant tumours. For malignant tumours, the overall 3-year survival rate was 84.0%, 5-year 80.2%, 10-year 66.7% and 15-year 53.6%. The overall recurrency rate was 38.9%. The rate of cervical lymph node metastases and distant metastases rate were both 9.2%.

Recurrent parotitis in children. A report of 102 cases.

This article presents 102 cases of recurrent parotitis in children with studies of clinical findings, sialographic manifestations, dynamic functions of the parotid gland examined with radionuclide, laboratory findings and follow-up studies of 28 cases with sialography. The following conclusions are reached: 1. Retrograde infection induced by the mumps virus and upper respiratory infection seem to play a major role in the etiology of recurrent parotitis. Familial abnormalities are potential factors. Incomplete immune functions of the children are factors related to the pathogenesis, and following growth and development of the immune system, this disease will undergo remission; 2. Sequential scintigraphy shows normal uptake and retarded excretion function of the parotid; 3. Long-term follow-up studies demonstrate that the patients are free from symptoms for many years, but the punctate dilatation in sialography may diminish, disappear, or be unchanged; and 4. If the disease is not cured in childhood, it may continue into adulthood and healing will take place eventually. Relationship with Sjogren's syndrome has not been revealed.

Treatment of 570 cases of oral squamous cell carcinoma.

This paper presents results of treatment in 570 cases with oral cancers. The overall 5-year survival rate was 64.5% and 92.8%, 84.9%, 50.2% and 16.4%, respectively for Stages I, II, III and IV. Five kinds of therapy have been used and discussed. The mortality rate of operation was 0.35%. The 5-year survival rate of 127 and 443 cases with and without cervical node metastases was 28.3% and 74.7% respectively. The 5-year survival rates of 81, 30 and 16 cases with involvement of 1, 2 and more than 3 nodes were 33.6%, 27.9% and 6.3% respectively. The 5-year survival rates were 35.5%, 14.4% and 0% when upper, middle and lower cervical nodes were respectively involved. Forty-six cases recurred and were operated on again, their 5-year survival rate was 23%.

Diagnosis and treatment of epithelial salivary gland tumours in children and adolescents.

In a series of 2,871 epithelial salivary gland neoplasms managed in the Peking University School of Stomatology between 1974 and 1999, 86 arose in children <16 years of age (52 parotid, 12 submandibular gland, 2 sublingual gland, and 20 minor salivary gland). Considerable delay was encountered in diagnosis (benign 24 months and malignant 16 months). In this group of children, 46 tumours (53%) proved to be malignant, with an incidence in the parotid, submandibular, sublingual, and minor salivary glands of 31/52 (60%), 2/12, 0/2, and 13/20 (65%), respectively. Sixty-six of 86 neoplasms (77%) occurred in children between 10 and 16 years of age. Only six neoplasms were encountered in children of 5 years or younger, four of which were high-grade malignant tumours. Benign tumours were successfully treated by local excision with only one recurrence. Of 46 malignant neoplasms, 8 were treated palliatively; of the remainder 8 were lost to follow-up and 2 patients died of their disease.

Hand grip strength: an indicator of nutritional state and the mix of postoperative complications in patients with oral and maxillofacial cancers.

The aim of the study was to assess the reliability of hand grip strength as an indicator of nutritional state, and to see if it was of any value in the prediction of postoperative complications. One-hundred and twenty-seven patients who presented with oral and maxillofacial cancer were studied for measurement of hand grip strength, mid-arm muscle circumference, and creatinine-height index. Hand grip strength correlated well with mid-arm muscle circumference and creatinine-height index. Patients whose hand grip strength was < 85% of the control value developed significantly more postoperative complications than those in whom it was 85% or more (15/31 (48%) compared with 12/65 (18%), P = 0.004). In conclusion, hand grip strength is not only a useful, non-invasive indicator of skeletal muscle mass, but may also be of use in predicting postoperative complications.

Local excision of the parotid gland in the treatment of Warthin's tumour.

The results of local excision of Warthin's tumour in the parotid gland (n = 61) (resection of the tumour together with surrounding normal gland and associated lymph nodes) were compared with those of superficial parotidectomy (n = 88) for incidence of recurrence, duration of operation, and degree of facial deformity. A subgroup of patients in each group were tested for gustatory sweating (iodine starch test) and parotid function (quantitative scintigraphy). Local excision had the following advantages over superficial parotidectomy: shorter operating time, less risk of facial nerve damage, less facial deformity, lower incidence of Frey's syndrome, and better preservation of the function of the parotid gland.

[Carcinoma of salivary glands--a clinical analysis of 342 cases].

342 cases with carcinoma of salivary glands were analysed. 152 tumors were located in parotid, 42 in submaxillary, 17 in sublingual and 131 in minor salivary glands. Pathological diagnosis were 106 mucoepidermoid carcinoma, 80 adenoid cystic carcinoma, 54 malignant mixed tumor, 40 adenocarcinoma, 38 papillary cystadenocarcinoma, 17 acinic cell carcinoma, 5 squamous cell carcinoma, and 2 undifferentiated carcinoma. The 3, 5, 10 and 15 year survival rates of these 342 cases were 76.6%, 65.9%, 48% and 29%, respectively. The difference between survival rate and relapse-free survival rate was about 8%. The prognosis of acinic cell carcinoma and mucoepidermoid carcinoma was much better than that of squamous cell carcinoma, adenocarcinoma and undifferentiated carcinoma. The survival rates, according to location, were: minor salivary gland tumors the highest, and those of submaxillary gland tumors the lowest. Postoperative radiotherapy improved the survival rate of adenoid cystic carcinoma. The overall recurrence rate was 37.4%, the neck lymph node metastasis rate 14.3% and the distant metastasis rate 9.1%.

[Observation on the efficacy of combined use of some new antimalarials for the treatment of falciparum malaria in Hainan Province].

Field trials were carried out to assess the therapeutic effects including the combined use of piperaquine (PQ) with nitroquine (NQ) and pyronaridine (PYR) with NQ against falciparum malaria in regions of Hainan Province with chloroquine-resistance in 3 successive autumns from 1985 to 1987. In an evaluation of PQ 750 mg with NQ 25 mg therapy in 33 falciparum malaria patients, the average fever subsidence time and parasite clearance time were 39 hours and 49 hours respectively, but within 28 days after medication, the recrudescence rates were 0-47% in different regions. In evaluations of PYR 600 mg with NQ 25 mg in 11 cases, PYR 800 mg with NQ 40 mg in 43 cases, PYR 800 mg with NQ 80 mg in 31 cases, the fever subsidence time were 31-35 hours, the parasite clearance time were 46-53 hours and the 28 days recrudescence rates were 13-18%. In the control, the use of PYR 1,200 mg alone in 42 cases, the average fever subsidence time and parasite clearance time were 33 hours and 48 hours respectively, the 28 days recrudescence rate was 12%. There was no statistically significant difference among them in their effects. The side-effects of all groups were mild.

Clinicopathological study of distant metastases of salivary adenoid cystic carcinoma.

Most studies of the clinicopathological characteristics and prognosis of patients with distant metastasis of salivary adenoid cystic carcinoma (SACC) have used small patient samples. To further explore this issue, a descriptive and prognostic study of 467 patients with SACC who were treated from 1963 to 2009 was conducted at a single institution. One hundred and forty-five patients (31.0%) had distant metastases. At least 20% of patients who presented with the early-stage disease and no recurrence developed distant metastasis. The overall 5-, 10-, and 20-year survival rates were 85.6%, 67.4%, and 50.4%, respectively, for patients without distant metastasis, and 69.1%, 45.7%, and 14.3%, respectively, for patients with distant metastasis. The median survival time after distant metastasis was 36 months (range 1-112 months). The prognosis was similar between patients who received treatment for metastasis and those who did not. Patients who were diagnosed with early-stage disease and without local recurrence of the primary tumours could also develop distant metastases. The biological characteristics of adenoid cystic carcinoma were different from those of squamous cell carcinoma. At present, the effectiveness of treatment for distant metastases is not ideal and further research is needed.

Conservation of salivary secretion and facial nerve function in partial superficial parotidectomy.

Conventional total superficial parotidectomy (TP) has commonly been used, but partial superficial parotidectomy (PP) offers the possibility of better preserving glandular function and avoiding palsy of the facial nerves. In this study, the extent to which saliva secretion and facial nerve function were conserved in patients who received TP vs. PP was compared. Data were collected from patients who received a PP (n=163) or a TP (n=105) for benign primary tumours in the superficial lobe of the parotid glands between 1995 and 2009 at a single hospital. The incidence of transient facial paralysis was significantly lower in patients who received PP than in those who received TP. Secretory function was preserved for patients with a conserved Stensen's duct, whereas patients in whom the duct had been ligated lost secretory function. Partial superficial parotidectomy reduces the incidence of postoperative facial nerve dysfunction and is conducive to preserving Stensen's duct and saliva secretion.

Transcutaneous electrical nerve stimulation on acupoints reduces fentanyl requirement for postoperative pain relief after total hip arthroplasty in elderly patients.

BACKGROUND: Transcutaneous electrical nerve stimulation (TENS) is regarded as an effective treatment for various types of pain. However, no randomized controlled trial has investigated TENS on acupoints for postoperative analgesia in elderly patients. This study aim to investigate whether TENS on acupoints has any favorable effect on complementary analgesia after total hip arthroplasty (THA) for elderly patients compared with a sham control treatment. METHODS: Sixty-eight elderly patients requiring THA surgery were enrolled and randomly allocated to one of two groups. Group Acu received true TENS on acupoints (bilateral P6, L14; ST36, GB31 ipsilateral to the surgery site) and Group Sham received sham treatment. All patients received patient-controlled analgesia for two days postoperatively. Analgesia was assessed by postoperative fentanyl requirement and pain intensity using a visual analogue scale (VAS-10 cm). The incidence of analgesia-related side effects, optional medication use and effects of patients' blinding were recorded. RESULTS: Fentanyl consumption in Group Acu was lower than that in Group Sham at 24 h (mean ± SD; 360±117 vs. 572±132 µg; P<0.001) and 48 h (712±184 vs. 1022±197 µg; P<0.001) after surgery. Postoperative pain intensity measured by VAS was similar in both groups. The incidence of opioid-related side effects and rescue medication for postoperative analgesia was significantly higher in Group Sham than in Group Acu. Differences between the groups regarding the effects of patients' blinding were not significant. CONCLUSION: TENS on specific acupoints is an effective and complementary approach to reduce postoperative analgesic requirement in elderly patients after THA.