Sepsis during short bowel syndrome hospitalizations:Identifying trends,disparities,and clinical outcomes in the United States

BACKGROUND Short bowel syndrome(SBS)hospitalizations are often complicated with sepsis.There is a significant paucity of data on adult SBS hospitalizations in the United States and across the globe.AIM To assess trends and outcomes of SBS hospitalizations complicated by sepsis in the United States.METHODS The National Inpatient Sample was utilized to identify all adult SBS hospitalizations between 2005-2014.The study cohort was further divided based on the presence or absence of sepsis.Trends were identified,and hospitalization characteristics and clinical outcomes were compared.Predictors of mortality for SBS hospitalizations complicated with sepsis were assessed.RESULTS Of 247097 SBS hospitalizations,21.7%were complicated by sepsis.Septic SBS hospitalizations had a rising trend of hospitalizations from 20.8%in 2005 to 23.5%in 2014(P trend<0.0001).Compared to non-septic SBS hospitalizations,septic SBS hospitalizations had a higher proportion of males(32.8%vs 29.3%,P<0.0001),patients in the 35-49(45.9%vs 42.5%,P<0.0001)and 50-64(32.1%vs 31.1%,P<0.0001)age groups,and ethnic minorities,i.e.,Blacks(12.4%vs 11.3%,P<0.0001)and Hispanics(6.7%vs 5.5%,P<0.0001).Furthermore,septic SBS hospitalizations had a higher proportion of patients with intestinal transplantation(0.33%vs 0.22%,P<0.0001),inpatient mortality(8.5%vs 1.4%,P<0.0001),and mean length of stay(16.1 d vs 7.7 d,P<0.0001)compared to the non-sepsis cohort.A younger age,female gender,White race,and presence of comorbidities such as anemia and depression were identified to be independent predictors of inpatient mortality for septic SBS hospitalizations.CONCLUSION Septic SBS hospitalizations had a rising trend between 2005-2014 and were associated with higher inpatient mortality compared to non-septic SBS hospitalizations.

Navigating Long-Term Management Challenges in Short Bowel Syndrome: A Case Report of Chronic Intestinal Failure Complicated by Kidney Dysfunction

The most common cause of intestinal failure is short bowel syndrome (SBS), occurring as a result of a small functional intestine length, usually less than 200 cm, leading to intestinal malabsorption. A 59-year-old female with a past medical history of Crohns disease status post total colectomy with ileostomy over 20 years ago came to the hospital due to progressive weakness. Despite medical management, the patient had high ileostomy output, leading to electrolyte disbalance, metabolic acidosis, dehydration, and progressive kidney decline. Due to the high dependence on continuous fluid supplementation, it was decided to place a port for parenteral hydration to maintain fluid replacements and homeostasis after discharge. Prompt initiation of parenteral fluid replacement and close follow-up on patients with ileostomy and intestinal failure is strongly recommended to avoid complications and prevent intestinal, liver, or kidney transplants.

Where are we at with short bowel syndrome and small bowel transplant?

Intestinal failure can be defined as the critical reduction of functional gut mass below the minimal amount necessary for adequate digestion and absorption to satisfy body nutrient and fluid requirements in adults or children.Short bowel syndrome(SBS)is characterized by a state of malabsorption following extensive resection of the small bowel.SBS may occur after resection of more than 50%and is certain after resection of more than 70%of the small intestine,or if less than 100 cm of small bowel is left.Several treatment modalities other than total parenteral nutrition,including hormones(recombinant human growth hormone,glucagon-like peptide-2)and tailoring surgeries(Bianchi procedure,serial transverse enteroplasty),had been proposed,however these were either experimental or inefficient.Small bowel transplant is a rather new approach for SBS.The once feared field of solid organ transplantation is nowadays becoming more and more popular,even in developing countries.This is partially secondary to the developments in immunosuppressive strategy.In this regard,alemtuzumab deserves special attention.There are more complex surgeries,such as multivisceral transplantation,for multi-organ involvement including small bowel.This latter technique is relatively new when compared to small bowel transplant,and is performed in certain centers worldwide.In this review,an attempt is made to give an insight into small bowel syndrome,small bowel transplantation,and related issues.

Alternative technique to save ischemic bowel segment in management of neonatal short bowel syndrome: A case report

BACKGROUND Congenital short bowel syndrome(SBS)associated with malrotation,gut volvulus and jejuno-ileal atresia is a very rare condition.It is a severe challenge for surgeons to preserve residual ischemic bowel segment in the management of short bowel syndrome,especially in neonates.CASE SUMMARY We report a newborn baby with gut malrotation associated with jejuno-ileal atresia,congenital SBS and jejunal volvulus.Hematemesis and abdominal distention were noted.At laparotomy,malrotation associated with jejuno-ileal atresia,congenital SBS and jenunal volvulus was confirmed.The total length of the small bowel was 63 cm with proximal jejunal bowel segment measuring 38 cm,including 18 cm necrotic segment below the Treitz’s ligament and 20 cm severe ischemic segment.The distal part of the small bowel was 25 cm in length and only about 0.8 cm in diameter.Ladd’s procedure,necrotic segment resection and end-to-back duodeno-ileal anastomosis were performed.The residual severe ischemic jejunum was preserved with single proximal stoma and distal end closure.Three months later,to restore the continuity of the isolated gut segment,end-to-end duodeno-jejunal and jejuno-ileal anastomosis was performed.The entire functional small bowel length increased to 80 cm.Intravenous fluid therapy and parenteral nutrition were discontinued on the 10th day postoperatively.Twelve months later,her body weight was 9.5 kg.CONCLUSION Isolation of severe ischemic bowel segment and staged anastomosis to restore the gut continuity for infants with SBS are safe and feasible.

Chronic intestinal failure and short bowel syndrome in Crohn’s disease

Chronic intestinal failure(CIF)is a rare but feared complication of Crohn’s disease.Depending on the remaining length of the small intestine,the affected intestinal segment,and the residual bowel function,CIF can result in a wide spectrum of symptoms,from single micronutrient malabsorption to complete intestinal failure.Management of CIF has improved significantly in recent years.Advances in home-based parenteral nutrition,in particular,have translated into increased survival and improved quality of life.Nevertheless,60%of patients are permanently reliant on parenteral nutrition.Encouraging results with new drugs such as teduglutide have added a new dimension to CIF therapy.The outcomes of patients with CIF could be greatly improved by more effective prevention,understanding,and treatment.In complex cases,the care of patients with CIF requires a multidisciplinary approach involving not only physicians but also dietitians and nurses to provide optimal intestinal rehabilitation,nutritional support,and an improved quality of life.Here,we summarize current literature on CIF and short bowel syndrome,encompassing epidemiology,pathophysiology,and advances in surgical and medical management,and elucidate advances in the understanding and therapy of CIF-related complications such as catheter-related bloodstream infections and intestinal failure-associated liver disease.

Surgeon's perspective on short bowel syndrome: Where are we?

Short bowel syndrome(SBS) is due to a massive loss of small bowel: the reduction of gut function is below the minimum necessary to maintain health(in adults) and growth(in children) so intravenous supplementation is required. Parenteral nutrition represents the milestone of treatment and surgical attempts should be limited only when the residual bowel is sufficient to increase absorption, reducing diarrhea and slowing the transit time of nutrients, water and electrolytes. The surgical techniques lengthen the bowel(tapering it) or reverse a segment of it: developed in children, nowadays are popular also among adults. The issue is mainly represented by the residual length of the small bowel where ileum has shown increased adaptive function than jejunum, but colon should be considered because of its importance in the digestive process. These concepts have been translated also in intestinal transplantation, where a colonic graft is nowadays widely used and the terminal ileum is the selected segment for a livingrelated donation. The whole replacement by a bowel or multivisceral transplant is still affected by poor long term outcome and must be reserved to a select population of SBS patients, affected by intestinal failure associated with irreversible complications of parenteral nutrition.

Characterization of a Chinese KCNQ1 mutation （R259H） that shortens repolarization and causes short QT syndrome 2

ObjectivesTo 评估在一个 KCNQ1 变化， R259H，和短 QT 症候群(SQTS ) 之间并且到的协会探索位于他们的 association.MethodsWe 下面的机制执行了在 25 probands 和他们的家庭成员(63 个病人) 的 SQTS 基因的基因屏蔽的 electrophysiological。我们使用了屏蔽编码贡献室的行动潜力的极化的离子隧道的候选人基因的 exons 和 intron-exon 边界的直接定序，包括 KCNQ1， KCNH2， KCNE1， KCNE2， KCNJ2， CACNA1c， CACNB2b 和 CACNA2D1。在屏蔽的 25 SQTS probands 之一，我们发现了一个 KCNQ1 变化， R259H。我们克隆 R259H 并且短暂地在 HEK-293 房间表示了它；然后，水流用整个房间补丁被记录夹钳显著地显示出的 techniques.ResultsR259H-KCNQ1 增加了当前的密度，它在在 1 s 的动摇脉搏以后是近似比野类型(WT ) 的大的 3 褶层。激活和 inactivation 的稳定的州的电压依赖没显示出 WT 和 R259H 变化之间的重要差别(P >；0.05 ) 而释放的时间常数显著地以测试潜力与 WT 相比在异种被延长，它显示 R259H 的释放比 WT 的显著地慢。这些结果建议 R259H 变化罐头有效地增加慢慢地激活的推迟的整流器钾电流(我 K ) 在分阶段执行 3 心脏的行动潜力，它可以是 QT 间隔 shortening.ConclusionsR259H 的一个很少发生的原因是为 SQTS2 负责的 KCNQ1 隧道的一个 gain-of-function 变化。这是 R259H 变化在中国人民被检测的第一次。

Glucagon-like peptide-2 analogues for Crohn’s disease patients with short bowel syndrome and intestinal failure

Short bowel syndrome(SBS)with intestinal failure(IF)is a rare but severe complication of Crohn’s disease(CD),which is the most frequent benign condition that leads to SBS after repeated surgical resections,even in the era of biologics and small molecules.Glucagon-like peptide-2 analogues have been deeply studied recently for the treatment of SBS-IF.These drugs have a significant intestinotrophic effect and the potential to reduce the chronic dependence of SBSIF patients on parenteral support or nutrition.Teduglutide has been approved for the treatment of SBS-IF,and apraglutide is currently in clinical development.The use of these drugs was examined with a focus on their use in CD patients.

Congenital intestinal malrotation with gastric wall defects causing extensive gut necrosis and short gut syndrome:A case report

BACKGROUND Congenital intestinal malrotation(CIM)is a common malformation in neonates.Early diagnosis and surgical intervention can improve the prognosis.CIM combined with congenital gastric wall defect is a potentially fatal condition.We present a severe case of CIM with gastric wall defect causing extensive gut necrosis and short gut syndrome.After three operations,the neonate survived and subsequently showed normal growth and development during infancy.CASE SUMMARY A male neonate(age:4 d)was hospitalized due to bloody stools and vomiting for 2 d,and abdominal distention for 1 d.Emergent exploratory laparotomy revealed black purplish discoloration of the bowel loops.Bowel alignment was abnormal with congestion and dilatation of the entire intestine,and clockwise mesentery volvulus(720°).The posterior wall of the gastric body near the greater curvature showed a defect in the muscularis layer(approximately 5.5 cm),and a circular perforation(approximately 3 cm diameter)at the center of this defect.Ladd’s procedure was performed and gastric wall defect was repaired.Third operation performed 53 d after birth revealed extensive adherence of small intestine and peritoneum,and adhesion angulated between many small intestinal loops.We performed intestinal adhesiolysis,resection of necrotic intestine,and small bowel anastomosis.CONCLUSION This case highlights that prolonged medical treatment may help improve intestinal salvage after surgical removal of necrotic intestines,and improve patient prognosis.

A Therapeutic Concept by “Watted” for the Surgical Lengthening of the Lower Face by Short Face Syndrome

The continuously growing esthetic awareness for the facial appearance and the spreading of information about the possibilities of adult treatment by public media result in an increase of adult patients which seek orthodontic treatment to improve their facial esthetics. In general, these patients show such a severe skeletal deformity that it is detectable even by non-experts because of its extraoral manifestation, which is the main motivation for treatment. Because of the nature of these deformities and because of the lacking growth usable for therapy the only promising treatment for these patients is the combined orthodontic-surgical approach. Besides a stable and functional occlusion with physiologic position of the condyle, the goals of treatment are the improvement of the dental and, above all, facial esthetics since the patient judges the success of treatment mostly by the extraoral appearance. The dentofacial appearance must be defined prior to treatment to plan the individual right approach in knowledge of the different treatment possibilities for Angle Class II deformities and thus be able to reach for both sides—patient and orthodontist—satisfying result. With this article, a systematic therapy concept to treat patients with Class II deformities and skeletal deep bite with a short lower face (short face syndrome) under consideration of the soft tissue analysis is presented.

Gut hormones, and short bowel syndrome: The enigmatic role of glucagon-like peptide-2 in the regulation of intestinal adaptation

Short bowel syndrome (SBS) refers to the malabsorption of nutrients, water, and essential vitamins as a result of disease or surgical removal of parts of the small intestine. The most common reasons for removing part of the small intestine are due to surgical intervention for the treatment of either Crohn's disease or necrotizing enterocolitis. Intestinal adaptation following resection may take weeks to months to be achieved, thus nutritional support requires a variety of therapeutic measures, which include parenterai nutrition. Improper nutrition management can leave the SBS patient malnourished and/or dehydrated, which can be life threatening. The development of therapeutic strategies that reduce both the complications and medical costs associated with SBS/long-term parenterai nutrition while enhancing the intestinal adaptive response would be valuable. Currently, therapeutic options available for the treatment of SBS are limited. There are many potential stimulators of intestinal adaptation including peptide hormones, growth factors, and neuronally-derived components. Glucagon-like peptide-2 (GLP-2) is one potential treatment for gastrointestinal disorders associated with insufficient mucosal function. A significant body of evidence demonstrates that GLP-2 is a trophic hormone that plays an important role in controlling intestinal adaptation. Recent data from clinical trials demonstrate that GLP-2 is safe, well-tolerated, and promotes intestinal growth in SBS patients. However, the mechanism of action and the localization of the glucagon-like peptide-2 receptor (GLP-2R) remains an enigma. This review summarizes the role of a number of mucosal-derived factors that might be involved with intestinal adaptation processes; however, this discussion primarily examines the physiology, mechanism of action, and utility of GLP-2 in the regulation of intestinal mucosal growth.

Effects of microalgae chlorella species crude extracts on intestinal adaptation in experimental short bowel syndrome

AIM: To evaluate the effects of chlorella crude extract (CCE) on intestinal adaptation in rats subjected to short bowel syndrome (SBS). METHODS: Wistar rats weighing 230-260 g were used in the study. After anesthesia a 75% small bowel resection was performed. Rats were randomized and divided into groups. Control group (n = 10): where 5% dextrose was given through a gastrostomy tube, Enteral nutrition (EN) group (n = 10): Isocaloric and isonitrogen EN (Alitraq, Abbott, USA), study group (n = 10): CCE was administrated through a gastrostomy tube. Rats were sacrif iced on the f ifteenth postoperative day and blood and tissue samples were taken. Histopathologic evaluation, intestinal mucosal protein and DNA levels, intestinal proliferation and apoptosis were determined in intestinal tissues, and total protein, albumin andcitrulline levels in blood were studied. RESULTS: In rats receiving CCE, villus lengthening, crypt depth, mucosal DNA and protein levels, intestinal proliferation, and serum citrulline, protein and albumin levels were found to be significantly higher than those in control group. Apoptosis in CCE treated rats was significantly reduced when compared to EN group rats. CONCLUSION: CCE has benef icial effects on intestinal adaptation in experimental SBS.

Altered profiles of fecal metabolites correlate with visceral hypersensitivity and may contribute to symptom severity of diarrhea-predominant irritable bowel syndrome

BACKGROUND Fecal metabolites are associated with gut visceral sensitivity,mucosal immune function and intestinal barrier function,all of which have critical roles in the pathogenesis of irritable bowel syndrome(IBS).However,the metabolic profile and pathophysiology of IBS are still unclear.We hypothesized that altered profiles of fecal metabolites might be involved in the pathogenesis of IBS with predominant diarrhea(IBS-D).AIM To investigate the fecal metabolite composition and the role of metabolites in IBSD pathophysiology.METHODS Thirty IBS-D patients and 15 age-and sex-matched healthy controls(HCs)underwent clinical and psychological assessments,including the IBS Symptom Severity System(IBS-SSS),an Italian modified version of the Bowel Disease Questionnaire,the Bristol Stool Form Scale(BSFS),the Hospital Anxiety and Depression Scale,and the Visceral Sensitivity Index.Visceral sensitivity to rectal distension was tested using high-resolution manometry system by the same investigator.Fecal metabolites,including amino acids and organic acids,were measured by targeted metabolomics approaches.Correlation analyses between these parameters were performed.RESULTS The patients presented with increased stool water content,more psychological symptoms and increased visceral hypersensitivity compared with the controls.In fecal metabolites,His[IBS-D:0.0642(0.0388,0.1484),HC:0.2636(0.0780,0.3966),P=0.012],Ala[IBS-D:0.5095(0.2826,0.9183),HC:1.0118(0.6135,1.4335),P=0.041],Tyr[IBS-D:0.1024(0.0173,0.4527),HC:0.5665(0.2436,1.3447),P=0.018],Phe[IBS-D:0.1511(0.0775,0.3248),HC:0.3967(0.1388,0.7550),P=0.028],and Trp[IBS-D:0.0323(0.0001,0.0826),HC:0.0834(0.0170,0.1759),P=0.046]were decreased in IBS-D patients,but isohexanoate[IBS-D:0.0127(0.0060,0.0246),HC:0.0070(0.0023,0.0106),P=0.028]was significantly increased.Only Tyr was mildly correlated with BSFS scores in all subjects(r=-0.347,P=0.019).A possible potential biomarker panel was identified to correlate with IBS-SSS score(R2 Adjusted=0.693,P<0.001).In this regression model,the levels of Tyr,Val,hexanoate,fumarate,and pyruvate were significantly associated with the symptom severity of IBS-D.Furthermore,visceral sensation,including abdominal pain and visceral hypersensitivity,was correlated with isovalerate,valerate and isohexanoate.CONCLUSION Altered profiles of fecal metabolites may be one of the origins or exacerbating factors of symptoms in IBS-D via increasing visceral sensitivity.

Fructo-oligosaccharide intensifies visceral hypersensitivity and intestinal inflammation in a stress-induced irritable bowel syndrome mouse model

AIM To determine whether fructo-oligosaccharide(FOS) affects visceral sensitivity, inflammation, and production of intestinal short-chain fatty acids(SCFA) in an irritable bowel syndrome(IBS) mouse model.METHODS Mice were randomly assigned to daily oral gavage of saline solution with or without FOS(8 g/kg body weight) for 14 d. Mice were further assigned to receive either daily one-hour water avoidance stress(WAS) or sham-WAS for the first 10 d. After 2 wk, visceral sensitivity was measured by abdominal withdrawal reflex in response to colorectal distension and mucosal inflammation was evaluated. Gas chromatography, real-time reverse transcription PCR, and immunohistochemistry assays were used to quantify cecal concentrations of SCFA, intestinal cytokine expression, and number of intestinal mast cells per high-power field(HPF), respectively.RESULTS Mice subjected to WAS exhibited visceral hypersensitivity and low-grade inflammation. Among mice subjected to WAS, FOS increased visceral hypersensitivity and led to higher cecal concentrations of acetic acid(2.49 ± 0.63 mmol/L vs 1.49 ± 0.72 mmol/L, P < 0.05), propionic acid(0.48 ± 0.09 mmol/L vs 0.36 ± 0.05 mmol/L, P < 0.01), butyric acid(0.28 ± 0.09 mmol/L vs 0.19 ± 0.003 mmol/L, P < 0.05), as well as total SCFA(3.62 ± 0.87 mmol/L vs 2.27 ± 0.75 mmol/L, P < 0.01) compared to saline administration. FOS also increased ileal interleukin(IL)-23 mR NA(4.71 ± 4.16 vs 1.00 ± 0.99, P < 0.05) and colonic IL-1β mR NA(2.15 ± 1.68 vs 0.88 ± 0.53, P < 0.05) expressions as well as increased mean mast cell counts in the ileum(12.3 ± 2.6 per HPF vs 8.3 ± 3.6 per HPF, P < 0.05) and colon(6.3 ± 3.2 per HPF vs 3.4 ± 1.2 per HPF, P < 0.05) compared to saline administration in mice subjected to WAS. No difference in visceral sensitivity, intestinal inflammation, or cecal SCFA levels was detected with or without FOS administration in mice subjected to sham-WAS.CONCLUSION FOS administration intensifies visceral hypersensitivity and gut inflammation in stress-induced IBS mice, but not in the control mice, and is also associated with increased intestinal SCFA production.

Growth hormone therapy for children with KBG syndrome:A case report and review of literature

BACKGROUND The incidence of short stature in KBG syndrome is relatively high.Data on the therapeutic effects of growth hormone(GH)on children with KBG syndrome accompanied by short stature in the previous literature has not been summarized.CASE SUMMARY Here we studied a girl with KBG syndrome and collected the data of children with KBG syndrome accompanied by short stature from previous studies before and after GH therapy.The girl was referred to our department because of short stature.Physical examination revealed mild dysmorphic features.The peak GH responses to arginine and clonidine were 6.22 and 5.40 ng/mL,respectively.The level of insulin-like growth factor 1(IGF-1)was 42.0 ng/mL.Genetic analysis showed a c.2635 dupG(p.Glu879fs)mutation in the ANKRD11 gene.She received GH therapy.During the first year of GH therapy,her height increased by 0.92 standard deviation score(SDS).Her height increased from-1.95 SDS to-0.70 SDS after two years of GH therapy.There were ten children with KBG syndrome accompanied by short stature who received GH therapy in reported cases.Height SDS was improved in nine(9/10)of them.The mean height SDS in five children with KBG syndrome accompanied by short stature increased from-2.72±0.44 to-1.95±0.57 after the first year of GH therapy(P=0.001).There were no adverse reactions reported after GH treatment.CONCLUSION GH treatment is effective in our girl and most children with KBG syndrome accompanied by short stature during the first year of therapy.

Long-term irritable bowel syndrome symptom control with reintroduction of selected FODMAPs

AIM To investigate the long-term effect of dietary education on a low fermentable oligosaccharide, disaccharide and polyol(FODMAP) diet on irritable bowel syndrome(IBS) symptoms and quality of life(Qo L).METHODS Participants with IBS(Rome III) were randomized to two groups. Group I commenced a low FODMAP diet at baseline. At three months, group II, so far a comparator group, crossed over to a low FODMAP diet while group I started re-challenging foods. All patients completed the IBS SSS(IBS symptom severity scoring system, 0-500 points increasing with severity), IBS Qo L questionnaire(0-100 increasing with Qo L), a FODMAP specific food frequency questionnaire and provided a stool sample at baseline, three and six months for microbiome analysis.RESULTS Fifty participants were enrolled into group I(n = 23) or group II(n = 27). Participants in both groups were similar in baseline values but with more men in group I. There was a significantly lower IBS SSS(275.6 ± 63.6 to 128.8 ± 82.5 vs 246.8 ± 71.1 to 203.6 ± 70.1)(P < 0.0002) and increased Qo L(68.5 ± 18.0 to 83 ± 13.4 vs 72.9 ± 12.8 to 73.3 ± 14.4)(P < 0.0001) in group I vs group II at 3 mo. The reduced IBS SSS was sustained at 6 mo in group I(160 ± 102) and replicated in group II(124 ± 76). Fiber intake decreased on the low FODMAP diet(33 ± 17 g/d to 21 ± 8 g/d)(P < 0.01) and after re-introducing FODMAP containing foods increased again to 27 ± 9 g/d. There was no change seen in the intestinal microbiome when participants adopted a low FODMAP diet.CONCLUSION This study demonstrated that a reduction in FODMAPs improves symptoms in IBS and this improvement can be maintained while reintroducing FODMAPs.

Costello Syndrome with Congenital Pulmonary Valve Stenosis and Ventriculomegaly—A Case Report

Costello syndrome is an extremely rare genetic disorder with growth delay after birth and typically results in short stature during childhood. It is one of the RASopathy of Ras/MAPK pathway syndromes. It affects the transforming protein p21, an enzyme that in humans is encoded by the HRAS gene. H-Ras is a small G protein and once bound to Guanosine triphosphate, it will activate a Raf kinase like C-Raf, the next step in the MAPK/ERK pathway (mitogen-actvated protein kinase/extracellular signal-regulated kinase) i.e., MEK (mitogen-actvated ERK kinase), a protein that phosphorylate ERK which can directly and indirectly activate many transcription factors. This pathway is also known as Ras-Raf, MEK-ERK pathway, which is a chain of proteins on the cell that communicate a signal from a receptor on the surface of the cell to the DNA in the nucleus of the cell. Activation of ERK 1/2 is involved in signal transduction pathways associated with cardiac hypertrophy. The developmental syndromes caused by germline mutations in genes that alter the RAS components of the MAP/ERK signal transduction pathway are called “RASopathies”. Cardiovascular abnormalities are important features of Costello syndrome and other RASopathies such as Noonan syndrome. Background of this case report described the congenital valvular pulmonic stenosis and ventriculomegaly associated with Costello syndrome by transthoracic echocardiographic imaging in a 9-year-old male boy.

Genotypic diagnosis of long QT syndrome by analysis of candidate genes

Objective To diagnose 6 LQTS families by genetic analysis.Methods A total aof 6 LQTS pedigrees with 43 family members were brought together for genetic diagnosis by using short-sequence tandem-repeat(STR)markers or sequencing.Genomic DNA was extracted from blood samples by standard procedure.STR markers or KCNQ1,KCNH2 and SCN5A were amplified.The haplotype analysis for LQTS was performed.If the family got the negative haplotype analysis,the sequencing was performed.Results LQTS patients were always linkaged with the SCN5A gene in family 1.KCNH2 was linkaged with the disease in family 2 to 5.21 gene carriers were identified from these 5 families.A mutation(A561V-KCNH2)was only found in the proband of family 6 and an SNP(G1691A)was found in all the members of the family.Conclusion Genetic diagnosis can not only improve presymptomatic diagnosis,but also provide the basis for personal therapy and research on disease-causing mutations.

Influence of Metabolic Syndrome versus Musculoskeletal Disorders on Saudi Health-Related Quality of Life

Aim: This work aimed to study the influence of two chronic health conditions, metabolic syndrome (MetS) and musculoskeletal disorders (MSDs), on the health-related quality of life (HRQoL) of Saudis. Method: The Medical Outcomes Study Short Form-36 (SF-36) health status questionnaire was used to measure the HRQoL and compare the mean scores of the questionnaire subscales and physical and mental component summaries (PCS and MCS) of 33 patients with MetS, 18 patients with MSDs, and 30 apparently healthy (AH) subjects. Regression analysis was used to measure the prediction power of the study group, age and gender of the participants in estimating the HRQoL. Results: Results showed that the mean scores of the physical subscales, the PCS, the mental subscales and MCS were arranged in descending order from AH subjects, patients with MetS, to patients with MSDs. The mean scores difference among the 3 study groups were statistically significant with the only exception for the general mental health (GMH) subscale (P = 0.404). The study group and age accounted for 41.8% of the variability of PCS while the study group accounted for 19.6% of the variability in the MCS. The resulted equation to estimate the PCS score was as follows: PCS = 113.18 - 12.85 (Group: 0 for AH, 1 for MetS, and 2 for MSDs) - 0.67 age. On the other hand the resulted equation to estimate the MCS score was as follows: MCS = 76.203 - 10.426 (Group: 0 for AH, 1 for MetS, and 2 for MSDs). Conclusion: Patients with MetS and patients with MSDs had lower HRQoL than AH subjects. All the physical and mental dimensions of HRQoL are negatively influenced with MetS and with MSDs with the only exception for the GMH subscale. The physical and mental burden of MSDs is more dominant. The study group and age can be used to predict the PCS while the study group can be used to predict the MCS.

短肠综合征患儿小肠移植术后早期移植肠康复的护理

总结5例各种原因所致短肠综合征患儿小肠移植术后早期移植肠康复的护理。针对儿童小肠移植手术复杂、术后并发症多、营养不良、心理应激、移植肠造口居家管理等问题,采取建立促进移植肠康复多学科协作团队;做好移植肠早期并发症的预防与护理;实施移植肠分阶段营养支持与护理;稳定患儿情绪配合移植肠康复的治疗与护理;开展患儿家长移植肠造口居家管理技能培训及考核等护理措施。经过积极治疗和护理,5例患儿术后早期移植肠功能顺利康复,出院后按时复诊;术后3~4个月均如期完成“回肠造口还纳术”,随访4~12个月,恢复良好。