[Advances in functional assessment and bowel rehabilitation following intersphincteric resection for low rectal cancer].

Intersphincteric resection (ISR) has been performed as an ultimate sphincter-sparing strategy in selected patients with low rectal cancer. Accumulating evidence suggests that ISR may be an interesting alternative to abdominoperineal resection to avoid a permanent stoma without compromising oncological outcomes. However, bowel dysfunction is a most common consequence of ISR not to be neglected. To date, limited clinical research has reported functional and quality of life outcomes according to patient-reported outcome measures. Also, data concerning management of low anterior resection syndrome are scarce due to lack of quality evidence. Therefore, this review provides an up-to-date summary of systematic assessment (including function, quality of life, manometry and morphology) and bowel rehabilitation for ISR patients. Postoperative anal function is often assessed by a combination of scales, including the Incontinence Assessment Scale, the Gastrointestinal Function Questionnaire, the Specific LARS Assessment Scale and the Faecal Diary. The condition-specific Quality of Life Scale is more appropriate for Quality-of-life measures in fecal incontinence after ISR. Patients' physiological function after ISR can be assessed using water- or high-resolution solid-state anorectal manometry. Anatomical and morphological changes can be assessed using defecography and 3D endorectal ultrasound. Electrical stimulation and biofeedback, pelvic floor exercises, rectal balloon training, transanal irrigation and sacral neuromodulation are all options for post-operative rehabilitation.

[Risk factors of coloanal anastomotic stricture after laparoscopic intersphincteric resection for low rectal cancer].

Objective: To evaluate the risk factors of coloanal anastomotic stricture after laparoscopic intersphincteric resection (Lap-ISR) for patients with low rectal cancer. Methods: A retrospective case-control study was performed to collect clinicopathological data from a prospective database (registration number: ChiCTR-ONC-15007506) at the Department of Colorectal Surgery, the Characteristic Medical center of PLA Rocket Force. From June 2011 to August 2018, a total of 144 consecutive patients with low rectal cancer who underwent Lap-ISR were enrolled in the study. Inclusion criteria: (1) reconstruction of digestive tract by end-to-end hand-made coloanal anastomosis (HCAA); (2) distance from lower tumor margin to anorected sphincter ring < 1 cm and distance from lower tumor margin to intersphincteric groove ≥ 1 cm; (3) T1-3 stage tumor with expected negative circumferential resection margin evaluated by preoperative MRI or 3D endoanal ultrasound; (4) rectal cancer confirmed as well- or moderately-differentiated adenocarcinoma; (5) preoperative Wexner incontinence score >10 points. Exclusion criteria: (1) follow-up period less than 3 months; (2) multiple primary cancers; (3) undergoing colonic J-pouch, coloplasty or reconstruction of end-to-side coloanal anastomosis; (4) death within perioperative period (within 3 months after surgery). Coloanal anastomotic stricture was diagnosed if the index finger or 12 mm electronic colonoscope had obvious resistance through the anastomosis or new rectum, or could not pass, accompanied by clinical symptoms such as difficult defecation and anal incontinence. Degree of anastomotic stricture was divided into 3 grades: grade A required anal enlargement, laxative or enema to assist defecation without active surgical treatment; grade B required surgery or endoscopic intervention; grade C required definitive ostomy, including unreducible preventive ileostomy or permanent colostomy. Univariate and multivariate analysis were used to evaluate the effects of 28 variables, including baseline data (age, gender, body mass index, neoadjuvant therapy, etc.), tumor-related factors (distance between tumor low margin and anal edge, maximum diameter of tumor, TNM staging, etc.), surgery-related factors (operation time, intraoperative blood loss, ISR procedure, anastomotic height, etc.) and anastomotic leakage, on the postoperative coloanal anastomotic stricture. Univariate analysis used χ(2) test or Fisher's exact test, then factors with P<0.05 were further included in multivariate analysis using logistic regression. Results: A total of 144 patients were enrolled in the study, including 90 males and 54 females with a median age of 59 years and median BMI of 24.88 kg/m(2). R0 resection rate was 96.5% (139/144). Median tumor distal resection margin was 1.5 (0.5 to 3.0) cm. Median follow-up was 31.5 (4 to 86) months. Coloanal anastomotic stricture was observed in 19 patients (13.2%), including 3 cases (2.1%) of grade A, 9 cases (6.2%) of grade B, and 7 cases (4.9%) of grade C. The median interval from the initial surgery to diagnosis of anastomotic stricture was 7 (1 to 31) months. Univariate analysis showed that male (χ(2)=6.795, P=0.009), radiotherapy (χ(2)=13.330, P=0.001), operation type of ISR (χ(2)=7.996, P=0.013), and anastomotic leakage (χ(2)=10.198, P=0.004) were associated with the postoperative coloanal anastomotic stricture. Multivariate analysis further indicated that male (OR=5.975, 95% CI: 1.209-29.534, P=0.028), postoperative radiotherapy (OR=8.748, 95% CI: 2.397-31.929, P=0.001), and anastomotic leakage (OR=6.313, 95% CI: 1.834-21.734, P=0.003) were independent risk factor of postoperative coloanal anastomotic stricture. Conclusion: For male patients, or patients with postoperative radiotherapy or anastomotic leakage, close follow-up should be carried out to prevent postoperative coloanal anastomotic stricture following Lap-ISR.

[Distribution and drug resistance of pathogens at hematology department of Jiangsu Province from 2014 to 2015: results from a multicenter, retrospective study].

Objective: To describe the distribution and drug resistance of pathogens at hematology department of Jiangsu Province from 2014 to 2015 to provide reference for empirical anti-infection treatment. Methods: Pathogens were from hematology department of 26 tertiary hospitals in Jiangsu Province from 2014 to 2015. Antimicrobial susceptibility testing was carried out according to a unified protocol using Kirby-Bauer method or agar dilution method. Collection of drug susceptibility results and corresponding patient data were analyzed. Results: The separated pathogens amounted to 4 306. Gram-negative bacteria accounted for 64.26%, while the proportions of gram-positive bacteria and funguses were 26.99% and 8.75% respectively. Common gram-negative bacteria were Escherichia coli (20.48%) , Klebsiella pneumonia (15.40%) , Pseudomonas aeruginosa (8.50%) , Acinetobacter baumannii (5.04%) and Stenotropho-monas maltophilia (3.41%) respectively. CRE amounted to 123 (6.68%) . Common gram-positive bacteria were Staphylococcus aureus (4.92%) , Staphylococcus hominis (4.88%) and Staphylococcus epidermidis (4.71%) respectively. Candida albicans were the main fungus which accounted for 5.43%. The rates of Escherichia coli and Klebsiella pneumonia resistant to carbapenems were 3.5%-6.1% and 5.0%-6.3% respectively. The rates of Pseudomonas aeruginosa resistant to tobramycin and amikacin were 3.2% and 3.3% respectively. The resistant rates of Acinetobacter baumannii towards tobramycin and cefoperazone/sulbactam were both 19.2%. The rates of Stenotrophomonas maltophilia resistant to minocycline and sulfamethoxazole were 3.5% and 9.3% respectively. The rates of Staphylococcus aureus, Enterococcus faecium and Enterococcus faecalis resistant wards vancomycin were 0, 6.4% and 1.4% respectively; also, the rates of them resistant to linezolid were 1.2%, 0 and 1.6% respectively; in addition, the rates of them resistant to teicoplanin were 2.8%, 14.3% and 8.0% respectively. Furthermore, MRSA accounted for 39.15% (83/212) . Conclusions: Pathogens were mainly gram-negative bacteria. CRE accounted for 6.68%. The rates of Escherichia coli and Klebsiella pneumonia resistant to carbapenems were lower compared with other antibacterial agents. The rates of gram-positive bacteria resistant to vancomycin, linezolid and teicoplanin were still low. MRSA accounted for 39.15%.

[The expression of serum hepatocyte growth factor in OSAHS].

Objective:To investigate the clinical significance of detecting peripheral blood hepatocyte growth factor（HGF） in OSAHS patients.Method:Ninety-six cases of OSAHS patients in our hospital were selected as OSAHS group,and were divided into 3 subgroups according to the PSG results：mild,medium and severe. Each group included 32 cases,Thirty-five cases of healthy persons were selected as control group. ELISA method was utilized to detect the HGF level of peripheral blood. HGF concentration was measured in 32 patients with severe OSAHS after 3 months of comprehensive treatment. The relationship between serum HGF and sleep respiration events was further analyzed.Result: The HGF concentration of peripheral blood increased with the severity of OSAHS.The serum levels of HGF in the control,mild,medium and severe group were（487.75±46.74）pg/ml，（519.44±50.77）pg/ml，（753.52±58.91） pg/ml and（829.49±61.74）pg/ml,respectively. There were significant differences among groups（F=117．733,P<0.01). HGF concentration in peripheral blood of OSAHS patients was unrelated to sex,age,and BMI（P>0.05）,and positively correlated with AHI,negatively correlated with LSaO2（P<0.01）. After comprehensive treatment,the serum HGF concentration and AHI in severe OSAHS group were significantly decreased,while LSaO2 was significantly increased.Conclusion:The level of HGF was increased in OSAHS patients and was positively correlated with the severity of OSAHS. Determining the level of HGF in peripheral blood is important for evaluating the severity of OSAHS and the degree of vascular endothelial dysfunction,and assessing the risk of cardiovascular disease.

[Expand pedicle forehead flap in the repair of whole nasal defect].

Objective:To observed the application of expanded pedicle forehead flap in nasal defect. Method:Totally 11 whole nasal defect cases in our department from June 2010 to March 2016 were treated with the expanded pedicle forehead flap. Regular follow-up was performed after operation to observe the survival condition of flaps, shape, color, texture and scar in donor site after nasal repair. Result:The expanded pedicle forehead flap and transplantation of autologous costal cartilage nasal stents were all survived, the reconstruction nasal shape was satisfied. After 1-5 years follow up, the repair using expanded forehead flap had a good color with enough blood supply, and the nasal ventilation function is well. There was only one linear scar leaved in donor site. Conclusion:Application of the expanded pedicle forehead flap is a good mothed for the treatment of whole nasal defect.

Impact of three-dimensional endoanal ultrasound on the outcome of anal fistula surgery: a prospective cohort study.

AIM: The aim of the study was to evaluate the impact of three-dimensional endoanal ultrasound (3D-EAUS) on postoperative outcome in patients with anal fistula. METHOD: This prospective study compared clinical and functional outcomes of patients with and without preoperative 3D-EAUS examination 1 year after anal fistula surgery. Patients were prospectively followed and evaluated by a standardized protocol including physical examination, the Wexner Incontinence Score (WIS) and anorectal manometry, at baseline and 1 year after surgery. RESULTS: A total of 196 patients were enrolled. There were no significant differences in demographic and operative parameters, except for operation time, between the two groups. At 1 year follow-up, the overall recurrence rates were 8.8% (9/102) in the 3D-EAUS group and 13.8% (13/94) in the examination under anaesthesia (EUA) group. In the subgroup of patients with complex fistulae, the recurrence rate was numerically lower in the 3D-EAUS group (12.8% vs 22.5%; P = 0.26). The WIS in the EUA group significantly worsened (0.35 ± 0.94 vs 1.07 ± 1.59; P = 0.003) with a decreased the number of fully continent patients (82.5% vs 55%; P = 0.008) while neither the WIS nor the proportion of fully continent patients changed in the 3D-EAUS group. Fewer patients in the 3D-EAUS group developed incontinence postoperatively (6.7% vs 33.3%; P = 0.012) and they had better maximum resting pressure and maximum squeeze pressure than the EUA group. CONCLUSIONS: Preoperative use of 3D-EAUS had a favourable impact on the outcome of surgical treatment for anal fistulae, especially in those with complex anal fistula. It should be routinely used in the clinical setting.

Predictors of early postoperative pain after stapled haemorrhoidopexy.

AIM: Moderate to severe pain after stapled haemorrhoidopexy (SH) is not uncommon. This study was designed to identify the predictors of postoperative pain after SH in a single centre. METHOD: Seventy-six patients with Grade II to IV haemorrhoids who underwent SH were selected from a prospectively compiled database. Preoperative data, including patient characteristics, manometry results and surgical data, were documented. Pain was evaluated during the first 24 h after the operation. Its intensity was classified into three grades according to the visual analogue scale (VAS) score: mild (VAS ≤ 3), moderate (VAS >3 to <5) and severe (VAS ≥ 5). Analgesics were not routinely given but were administered if the patient had moderate or severe pain. Both univariate and multivariate analyses were used to determine the predictors of postoperative pain. RESULTS: Moderate and severe pain was noted in 43 (58.9%) patients. No patient was readmitted due to persistent anal pain during the month following discharge. Postoperative pain was significantly associated with gender (P = 0.017), age (P = 0.014), first initial sensory volume (P = 0.023) and constipation (P = 0.005) in univariate analysis. Multivariate analysis identified male gender as an independent predictor of postoperative moderate to severe pain (P = 0.037, OR = 3.1, 95% CI 1.07-9.09). The initial sensory volume and preoperative coexisting constipation were negative predictors of postoperative moderate to severe pain after SH (P = 0.037, OR = 0.320, 95% CI 0.110-0.934, and P = 0.036, OR = 0.255, 95% CI 0.071-0.913, respectively). CONCLUSION: Male gender and the initial sensory volume are predictors of postoperative pain after SH. Anal manometry is recommended before the SH procedure. An active analgesia protocol should be considered for male patients with a low initial sensory volume after SH.

Uncoupling protein 2 knockout exacerbates depression-like behaviors in mice via enhancing inflammatory response.

Mitochondrial uncoupling protein 2 (UCP2) has been recognized as an important protein to regulate reactive oxygen species (ROS) production. The absence of UCP2 has the potential to promote ROS accumulation and thereby induces oxidative damages and inflammatory response. Increasing evidence strongly reveals that depression is accompanied by oxidative stress, so the present study was to investigate the impacts of UCP2 on the etiology of depression. Wild-type and UCP2 knockout mice were used to establish chronic mild stress (CMS)-induced anhedonia model of depression. The results showed that CMS led to more severe depressive responses in UCP2 knockout mice, characterized by exacerbated depression-like behaviors, increased corticosterone level and significant loss of weight. Moreover, CMS resulted in a higher mortality in UCP2 knockout mice. Our further study showed that UCP2 knockout enhanced CMS-induced activation of nuclear factor κB (NF-κB) p65 and increased mRNA expression of tumor necrosis factor alpha (TNF-α) in hypothalamus. And the levels of TNF-α of serum and spleen in UCP2 knockout mice are remarkably enhanced by CMS, even under basal conditions. Therefore, our findings suggest that UCP2 knockout-induced inflammation may contribute to the development of depressive symptoms.

A multicenter, retrospective study of acute kidney injury in adult patients with nonmyeloablative hematopoietic SCT.

Acute kidney injury (AKI) is a common early complication in patients with hematopoietic SCT (HSCT). However, there are limited data about the incidence and risk factors of AKI in patients with nonmyeloablative HSCT. We conducted a multicenter, retrospective cohort study of 62 patients from three institutions who were treated with similar protocols for nonmyeloablative HSCT. AKI was classified according to the Acute Kidney Injury Network criteria. It was shown that 29% of the patients developed AKI in the first 100 days after nonmyeloablative HSCT. The risk factor at baseline for AKI was incomplete HLA-matched transplant (odds ratio (OR) 3.6; 95% confidence interval (CI) 1.1-13.0). Complications such as acute GVHD, veno-occlusive disease of liver and sepsis were also associated with the development of AKI (OR 12.1; 95% CI 2.4-62.4). AKI was significantly associated with mortality (OR=4.7; 95% CI 1.9-11.5). We concluded that AKI is a very common complication in patients with nonmyeloablative HSCT, which is associated with incomplete HLA-matched transplant and complications, and has an important impact on the patients' first year of survival.

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).

In order to identify new metabolic abnormalities in patients with complex neurodegenerative disorders of unknown aetiology, we performed high resolution in vitro proton nuclear magnetic resonance spectroscopy on patient cerebrospinal fluid (CSF) samples. We identified five adult patients, including two sisters, with significantly elevated free sialic acid in the CSF compared to both the cohort of patients with diseases of unknown aetiology (n = 144; P < 0.001) and a control group of patients with well-defined diseases (n = 91; P < 0.001). All five patients displayed cerebellar ataxia, with peripheral neuropathy and cognitive decline or noteworthy behavioural changes. Cerebral MRI showed mild to moderate cerebellar atrophy (5/5) as well as white matter abnormalities in the cerebellum including the peridentate region (4/5), and at the periventricular level (3/5). Two-dimensional gel analyses revealed significant hyposialylation of transferrin in CSF of all patients compared to age-matched controls (P < 0.001)--a finding not present in the CSF of patients with Salla disease, the most common free sialic acid storage disorder. Free sialic acid content was normal in patients' urine and cultured fibroblasts as were plasma glycosylation patterns of transferrin. Analysis of the ganglioside profile in peripheral nerve biopsies of two out of five patients was also normal. Sequencing of four candidate genes in the free sialic acid biosynthetic pathway did not reveal any mutation. We therefore identified a new free sialic acid syndrome in which cerebellar ataxia is the leading symptom. The term CAFSA is suggested (cerebellar ataxia with free sialic acid).

Dietary protective and risk factors for esophageal and stomach cancers in a low-epidemic area for stomach cancer in Jiangsu Province, China: comparison with those in a high-epidemic area.

Comparative epidemiological studies with ecological and case-control approaches in high- and low-epidemic areas of China have provided us with much evidence with regard to risk and benefit in the environment. To clarify how dietary factors are involved in esophageal and stomach cancer development, we performed a case-control study in a low-epidemic area, and compared the findings with those obtained earlier for a high-epidemic area for stomach cancer in the same Jiangsu Province, China. We recruited 199 and 187 cases with esophageal and stomach cancers, respectively, and 333 population-based common controls. Odds ratios (ORs) for esophageal and stomach cancers were calculated with adjustment for potential confounding factors, using an unconditional logistic model. Current and former smoking elevated the OR for esophageal cancer, along with high intake of pickled vegetables and broiled meat, while decreased ORs were observed for frequently consumed raw vegetables and garlic. With regard to stomach cancer, ORs were increased with frequent consumption of salty fish, leftover gruel, and broiled meat, and lowered by snap bean consumption. The present risk factors were common to the previously obtained results in the high-epidemic area, and similarly distributed in each general population. While more protective factors were observed in the high-epidemic area, their penetrance was much greater in the low-epidemic area. The present study thus suggests that frequent vegetable and garlic consumption contributes to low mortality rates for esophageal and stomach cancers in a low-epidemic area, counteracting similar exposure levels for risk factors as in the high-epidemic area.

Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.

The neonatal phenotype of carnitine-acylcarnitine translocase (CACT) deficiency is one of the most severe and usually lethal mitochondrial fat oxidation disorders characterized by hypoketotic hypoglycemia, hyperammonemia, cardiac abnormalities, and early death. In this study, the proband was the daughter of consanguineous Hispanic parents. At 36 h of life, she had bradycardia and died at 4 days of age without a specific diagnosis. In a subsequent pregnancy, prenatal counseling and amniocentesis were provided. Incubation of the amniocytes from this pregnancy and fibroblasts (from the dead proband) with [16-(2)H(3)]palmitic acid and analysis by tandem mass spectrometry revealed an increasedconcentration of [16-(2)H(3)]palmitoylcarnitine, suggesting the diagnoses of either CACT or carnitine palmitoyltransferase II (CPT-II) deficiency. CACT enzyme activity was absent in both cell lines. Molecular investigation of cDNA from the dead proband and her affected sibling revealed aberrant CACT cDNA species, including exon 3 skipping, both exon 3 and 4 skipping, and a 13-bp insertion at cDNA position 388. Investigation of these cell lines for mutations affecting CACT RNA processing by analysis of CACT gene sequences, including intron and exon boundaries, revealed a single nucleotide G deletion at the donor site in intron 3 which resulted in exon skipping and a 13-bp insertion. The proband and her affected sibling were homozygous for this deletion.

SC35 plays a role in T cell development and alternative splicing of CD45.

Molecular diversity via alternative splicing is important for cellular function and development. SR proteins are strong candidate regulators of alternative splicing because they can modulate splice site selection. However, endogenous substrates for SR proteins are largely unknown, and their roles as splicing regulators in vertebrate development are unclear. Here we report that Cre-mediated conditional deletion of the prototypical SR protein SC35 in the thymus causes a defect in T cell maturation. Deletion of SC35 alters alternative splicing of CD45, a receptor tyrosine phosphatase known to be regulated by differential splicing during thymocyte development and activation. This study establishes a model to address the function of SR proteins in physiological settings and reveals a critical role of SC35 in a T cell-specific regulated splicing pathway.

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

A novel mutation was identified in two unrelated patients with medium-chain acyl-CoA dehydrogenase deficiency. First, a 19-year-old Caucasian female presented with a devastating illness, resulting in sudden death in adulthood which is unusual. The second patient, now a 3.5-year-old male, presented at 17 months of age with a hypoglycemic seizure and dehydration. Sequence analysis revealed a novel mutation G617T in exon 8 resulting in an arginine to leucine substitution at codon 206 (R206L). Both patients were compound heterozygous for this G617T and the common mutation A985G.

Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.

Very long chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial step of long chain fatty acid oxidation in the mitochondria. Patients with VLCAD deficiency have recently been observed with two clinical phenotypes. The cardiac form presents with an early onset cardiomyopathy and a high incidence of infant death, while the hypoglycemic form resembles medium chain acyl-CoA dehydrogenase (MCAD) manifesting with hypoketotic hypoglycemia. In our investigation on the molecular basis for these phenotypes, we identified two novel mutations in one VLCAD patient with the hypoglycemic form, a C953T (Pro318Leu) mutation in exon 10 resulting in a substitution of proline 318 by leucine on one allele, and a C1194A (Tyr398Stop) mutation in exon 12 which created a premature stop codon TAA on another allele. The Tyr398Stop mutation may result in a truncated protein or instable messenger RNA.

Protective effect of allium vegetables against both esophageal and stomach cancer: a simultaneous case-referent study of a high-epidemic area in Jiangsu Province, China.

To study the relation between allium vegetable intake and cancer of the esophagus (EC) and stomach (SC) in Yangzhong city, which is one of the highest-risk areas for these cancers in Jiangsu province, China, a simultaneous case-referent study was conducted using histopathologically confirmed cases (EC: n = 81, SC: n = 153) and population-based referents (n = 234). A questionnaire was used to collect information on the general status of subjects, their dietary habits, frequency intake of allium vegetables and other foods, tea consumption, smoking and alcohol drinking. The odds ratios (ORs) and 95% confidence intervals (CIs) were estimated by a multiple logistic regression model. The results showed that frequent intake of allium vegetables (including garlic, onion, Welsh onion and Chinese chives), raw vegetables, tomatoes and snap beans, and tea consumption were inversely associated with the risk for EC and SC. In the highest consumption category (> or = 1 time/week) of garlic, onion, Welsh onion and Chinese chives, the adjusted ORs compared with the lowest category (< 1 time/month) were 0.30 (CI = 0.19-0.47), 0.25 (CI = 0.11-0.54), 0.15 (CI = 0.08-0.26), and 0.57 (CI = 0.23-1.42) for EC, and 0.31 (CI = 0.22-0.44), 0.17 (CI = 0.08-0.36), 0.22 (CI = 0.15-0.31) and 0.40 (CI = 0.17-0.94) for SC, respectively. The main results in the present study suggested that allium vegetables, like raw vegetables, may have an important protecting effect against not only stomach cancer, but also esophageal cancer.

Comparative study of lifestyles of residents in high and low risk areas for gastric cancer in Jiangsu Province, China; with special reference to allium vegetables.

There is a low risk area for gastric cancer in Jiangsu Province, China, where people frequently consume raw allium vegetables. As a first step epidemiological study to clarify the factors involved in the low incidence of gastric cancer, we conducted a comparative study of the ecological factors in a high risk area (HRA), Yangzhong, and a low risk area (LRA), Pizhou, using a questionnaire. Subjects were selected from the general population according to age and sex, and comprised 414 residents of the HRA and 425 residents of the LRA. Ecological factors were compared for the two areas by Cochran-Mantel-Haenszel method, age-adjusted. Smoking and drinking habits were found to be more common in the LRA. On the other hand, allium vegetables were consumed in the LRA much more frequently, with high consumption of raw vegetables fruit, tomatoes, kidney beans and soybean products. People who consumed garlic en masse 3 times or more per week were 82% of men and 75% of women in the LRA, and 1% of men and women in the HRA. The results of the survey suggest that frequent consumption of allium vegetables, in addition to other anticancer foods, may be a factor in low mortality for gastric cancer.

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

Carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, presents as three distinct phenotypes (neonatal, infantile, and adult onset). In order to investigate the molecular basis of these three phenotypes, six patients with CPT II deficiency have been studied. All six unrelated patients in this study experienced the clinical symptoms of CPT II deficiency. Three patients had the neonatal form, one had the milder infantile form, and the remaining two had the adult-onset form with "muscular" symptoms only. Their diagnoses were based upon in vitro analysis of the mitochondrial beta-oxidation pathway in fibroblasts and standard enzyme assays. We devised a method to screen the entire coding sequence and flanking splice junction of the CPT II gene. A total of six different mutations have been identified, including four novel mutations. Among them, the previously reported common mutation, S113L, was only found in 3 of 12 variant alleles. Three of the six mutations have been identified in a few unrelated patients, while the remaining three have been found in single families. This study, as well as those by others, indicates genetic heterogeneity in this disease. In addition to tabulating the mutations, the correlation of mutant genotype to clinical phenotype is briefly discussed.

A novel mutation identified in carnitine palmitoyltransferase II deficiency.

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of mitochondrial fatty-acid oxidation which presents as three distinct phenotypes (neonatal, infantile, and adult onset). CPT II exons from an adult-onset CPT II-deficient patient were amplified and directly sequenced to further investigate the molecular basis of this disorder. A novel mutation, C471T, in exon 4 of the carnitine palmitoyltransferase II gene was found which created a stop codon, TGA, at residue 124 of the protein (R124Stop). This mutation would result in severe protein truncation. This unique mutation was found on one allele while the S113L mutation, previously reported, was present on the other allele.