Preliminary data that psychological treatment and baseline anxiety are associated with a decrease in postprandial fullness and early satiation for individuals with bulimia nervosa and related other specified feeding or eating disorder.

OBJECTIVE: Gastrointestinal symptoms, particularly postprandial fullness, are frequently reported in eating disorders. Limited data exist evaluating how these symptoms change in response to outpatient psychological treatment. The current study sought to describe the course of postprandial fullness and early satiation across psychological treatment for adults with bulimia nervosa and related other specified feeding or eating disorders and to test if anxiety moderates treatment response. METHODS: Secondary data analysis was conducted on questionnaire data provided by 30 individuals (80% white, M(SD)age = 31.43(13.44) years; 90% female) throughout treatment and six-month follow-up in a pilot trial comparing mindfulness and acceptance-based treatment with cognitive-behavioral therapy for bulimia nervosa. Participants completed items from the Rome IV Diagnostic Questionnaire for Adult Functional Gastrointestinal Disorders and the State Trait Anxiety Inventory. RESULTS: Postprandial fullness and early satiation both significantly decreased over time (ds = 1.23-1.54; p's < .001). Baseline trait anxiety moderated this outcome, such that greater decreases were observed for those with higher baseline anxiety (p = .02). DISCUSSION: Results extend prior work in inpatient samples by providing preliminary data that postprandial fullness and early satiation decrease with outpatient psychological treatment for bulimia nervosa. Baseline anxiety moderated this effect for postprandial fullness. Future work should replicate findings in a larger sample and test anxiety as a mechanism underlying postprandial fullness in eating disorders. PUBLIC SIGNIFICANCE: The current study found that common gastrointestinal symptoms (postprandial fullness and early satiation) decrease over the course of outpatient psychotherapy for adults with full and subthreshold bulimia nervosa. Postprandial fullness decreased more across time for those high in anxiety.

Gastrointestinal and Hepatic Involvement in Primary Sjögren's Syndrome: Case Report and Literature Review

Sjögren's syndrome is a systemic autoimmune disease characterized by dry eyes and mouth due to the involvement of exocrine glands. However, it can manifest with GI symptoms that cover a broad spectrum from esophageal and intestinal dysmotility, achalasia, hypochlorhydria, and chronic atrophic gastritis to pancreatic enzyme deficiency, biliary dysfunction, and liver cirrhosis, which varies in its clinical manifestations and is often associated with erroneous approaches. This article reviews the GI manifestations of Sjögren's syndrome. It presents the case of a woman in her eighth decade of life with this syndrome. She showed asymptomatic hepatobiliary disease, documented abnormalities in liver profile tests, and a subsequent diagnosis of primary sclerosing cholangitis, for which she received initial treatment with ursodeoxycholic acid. During her condition, the patient has had three episodes of cholangitis, requiring endoscopic retrograde cholangiopancreatography with no findings of stones, with scant biliary sludge and discharge of purulent bile precipitated by her underlying liver disease. The association between Sjögren's syndrome and primary sclerosing cholangitis is rare and calls for special consideration.

El síndrome de Sjögren es una enfermedad autoinmune sistémica que se caracteriza por la sequedad ocular y bucal debido a la afección de glándulas exocrinas; sin embargo, puede manifestarse con síntomas gastrointestinales que abarcan un espectro amplio desde la dismotilidad esofágica e intestinal, acalasia, hipoclorhidria y gastritis crónica atrófica hasta enzimodeficiencia pancreática, disfunción biliar y cirrosis hepática, que tiene variación en sus manifestaciones clínicas y se asocia con abordajes erróneos en muchas ocasiones. En este artículo se hace una revisión acerca de las manifestaciones gastrointestinales de síndrome de Sjögren y se presenta el caso de una mujer en la octava década de la vida con este síndrome, que cursa con enfermedad hepatobiliar asintomática, documentación de alteración en pruebas de perfil hepático y diagnóstico ulterior de colangitis esclerosante primaria, por lo que recibió un tratamiento inicial con ácido ursodesoxicólico. Durante el curso de su enfermedad ha presentado 3 episodios de colangitis, con requerimiento de colangiopancreatografía retrógrada endoscópica sin hallazgos de cálculos, con escaso barro biliar y salida de bilis purulenta, precipitada por su enfermedad hepática de base. La asociación entre el síndrome de Sjögren y la colangitis esclerosante primaria es infrecuente y justifica una consideración especial.

Histoplasmosis in the anal canal: case report and literature review

We herein present the case of a patient with anal condylomatosis concomitant with histoplasmosis, whose diagnosis was only possible through the collection of material and the subsequent evidence of a primary pulmonary focus. Histoplasmosis is a fungal disease whose contamination occurs through the respiratory route, and it can spread to the digestive tract, but the anus is rarely affected. It is important to have a high degree of suspicion to make the diagnosis, especially in immunosuppressed patients.

State of the Science on the Benefits of Human Milk for Hospitalized, Vulnerable Neonates.

Research on human milk has increased dramatically in recent years. The purpose of this review is to describe the literature on the health benefits of human milk for hospitalized, vulnerable neonates. PubMed, CINAHL, and Embase were searched for research articles reporting the health outcomes of hospitalized neonates who were exposed to human milk. Human milk, particularly a mother's own milk, has the potential to reduce the risk of death and the risk and severity of necrotizing enterocolitis, infection, retinopathy of prematurity, bronchopulmonary dysplasia, intraventricular hemorrhage, kidney disease, and liver disease. Dose and timing of human milk is important, with more human milk and earlier introduction having a greater impact on health. When a mother's own milk is not available, donor human milk provides benefits over infant formula.

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.

BACKGROUND: SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital anomalies of the urinary tract and the visceral or the cardiovascular system. METHODS: Here, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse and knockdown (KD) experiments using a splice blocking morpholino in zebrafish were performed to study the role of SHROOM4 during embryonic development. RESULTS: In this study, we identified putative disease-causing SNVs and CNVs in SHROOM4 in six individuals from four families with congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (CNS). Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. CONCLUSION: The identified SNVs and CNVs in affected individuals with congenital anomalies of the urinary tract, the anorectal, the cardiovascular and the central nervous systems, and subsequent embryonic mouse and zebrafish studies suggest SHROOM4 as a developmental gene for different organ systems.

Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report.

BACKGROUND: Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndrome 1 gene (KAL1), occasionally infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT) have been reported. PATIENT PRESENTATION: We report on a male newborn with family history in maternal uncle of renal abnormalities and short stature still without ichthyosiform dermatosis. The baby presented CAKUT with kidney failure and progressive vomiting. Renal bicarbonate loss masked hypochloremic and hypokalemic metabolic alkalosis classically present in IHPS and delayed its diagnosis. Antropyloric ultrasound examination and cystourethrography were diagnostic. After Fredet-Ramstedt extramucosal pyloromyotomy feeding and growing was regular and he was discharged home. Comparative whole-genome hybridization detected a maternal inherited interstitial deletion of 1.56 Mb on Xp22.31(6,552,712_8,115,153) × 0 involving the STS gene, but not the KAL1 gene. CONCLUSIONS: Aberrant cholesterol sulfate storage due to STS deletion as the underlying pathomechanism is not limited to oculocutaneous phenotypes but could also lead to co-occurrence of both IHPS and kidney abnormalities, as we report. Thus, although these two latter pathologies have a high incidence in the neonatal age, their simultaneous association in our patient is resembling not a chance but a real correlation expanding the clinical spectrum associated with Xp22.31 deletions.

Laparoscopic mucosectomy for gastric duplication cysts that communicated with the spleen in a 10-year-old girl: A case report.

We report a case of laparoscopic mucosectomy for gastric duplication cysts that communicated with the spleen. A 10-year-old girl visited a local hospital with a chief complaint of intermittent left abdominal pain that had lasted for about 2 months. We diagnosed two gastric duplication cysts by ultrasonography and planned a laparoscopic extirpation. The elliptical masses were found in the splenic hilum and were 5 and 3 cm in diameter. The bigger one communicated with the spleen, so cystectomy could not be performed. Considering the risk of hemorrhage and the patient's age, we performed a mucosectomy rather than a partial splenectomy. The patient had an uneventful postoperative course. We histologically diagnosed gastric duplication cysts. Laparoscopic mucosectomy is a useful procedure for gastric duplication cysts that communicate with the spleen.

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.

BACKGROUND: Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway has a central role. Although palatal and retinal anomalies in the context of chromosomopathies and some mono-/oligogenic syndromes are reported associated with Hirschsprung disease the role of inactivating RET mutations in these cases is not clarified. CASE PRESENTATION: We report on a dysmorphic newborn with cleft palate and palatal synechia, who showed intestinal obstruction after 24 h of life. Transient ileostomy and surgical biopsies were performed to diagnose aganglionosis of the colon and last ileal loop. No chromosomal anomalies or copy number variations were found. We identified a paternal heterozygous germline mutation c.1852 T > C, which results in the substitution of cysteine by arginine in the RET-receptor tyrosine kinase (p.C618R mutation). There was no family history of Hirschsprung disease, but the father underwent surgery for medullary thyroid carcinoma and was affected by retinal dystrophy. CONCLUSIONS: The occurrence of Hirschsprung disease and carcinoma shows how a single mutation may be responsible for adverse effects: gain and loss of function of the same receptor. Furthermore, it would be interesting to study its dual role in face and retina embryology, and to extend targeted investigations of RET hotspots in these developmental abnormalities to facilitate counselling, follow-up, and tumor prevention. Complex surgical procedures and genetic testing as well as socio-economic impact are a challenge for familiar compliance.

Impact of Nutrition Support Team on Postoperative Nutritional Status and Outcome of Patients with Congenital Gastrointestinal Anomalies.

BACKGROUND The aim of this study was to evaluate postoperative nutritional status in patients who underwent operations due to congenital gastrointestinal anomalies in surgical neonatal intensive care units (NICUs) and to investigate the role of nutrition support teams (NSTs) on the outcome. METHODS A retrospective clinical study was carried out at two NICUs in Dr. Sheikh Pediatric Hospital, Mashhad, Iran. One of the NICUs was supported by NST and the other was not. A total of 120 patients were included through a non-random simple sampling. Different variables such as age, sex, prematurity, type of anomaly, birth weight, use of vasoactive drugs, weight gain in NICU, length of NICU stay, postoperative enteral nutrition initiation, duration of mechanical ventilation, mortality rate, maximum of blood sugar, the amount of calorie delivered to the calorie requirement ratio, and distribution of energy from enteral or parenteral roots were compared between the patients of two NICUs. RESULTS Median weight gain and the amount of calorie delivered during NICU stay in subjects of NSTsupported NICU was significantly more than other NICU. There was no significant difference in the length of NICU stay, enteral nutrition initiation after the operation, ventilation days, and percent of mortality between the two groups. The percentage of enteral feeding was also increased by about 2.8%, which was not significant. CONCLUSION NST could increase post-operative weight gain and calorie delivery in patients as well as providing an increase in enteral feeding rather than parenteral.

Malrotación intestinal en el adulto diagnosticado posterior a presentación del síndrome pospolipectomía en ciego: reporte de un caso / Intestinal malrotation in adults diagnosed after presentation of post polypectomy syndrome in the cecum: report of a case

RESUMEN La malrotación intestinal es una anomalía congénita de la rotación y fijación intestinal, diagnosticada de forma infrecuente en la edad adulta. Se presenta un caso de malrotación intestinal en un paciente adulto previamente asintomático con cambios en el hábito intestinal en los últimos 6 meses al que se le realiza una colonoscopia ambulatoria con la evidencia de un pólipo en el ciego, posterior a su resección presenta dolor abdominal agudo en fosa ilíaca izquierda que permite la realización de estudios imagenológicos que confirman el diagnóstico.

ABSTRACT Intestinal malrotation is a congenital anomaly of intestinal rotation and fixation, diagnosed infrequently in adulthood. We report the presence of intestinal malrotation in a previously asymptomatic adult patient with changes in bowel habit in the last 6 months after a colonoscopy is performed with evidence of a polyp in the cecum, after resection presenting acute abdominal pain in the left iliac fossa that allows imaging to confirm the diagnostic.

EUS-Guided Endoscopic Gastrointestinal Anastomosis with Lumen-Apposing Metal Stent: Feasibility, Safety, and Efficacy.

Traditionally, restoration of normal bowel continuity after resection and bypass of a diseased or obstructed gastrointestinal tract can only be achieved through surgery, which can be technically challenging and comes with a risk of adverse events. Here, we describe our institutions' experience with endoscopic-guided gastroenterostomy or enteroenterostomy with lumen-apposing metal stent (LAMS) from March 2015 to August 2016. Ten patients had gastrogastrostomy (gastric pouch to gastric remnant) and three patients had jejunogastrostomy (Roux limb to gastric remnant) for the reversal of Roux-en-Y bariatric surgery. One patient had gastroduodenostomy (stomach to duodenal bulb) post antrectomy and one patient had jejunojejunostomy for distal obstruction following Roux-en-Y reconstruction. Technical and clinical success were achieved in all patients, save for delayed anastomotic stenosis following stent removal in one patient, with a mean follow-up of 126 days (3-318 days) with minimal complications in two patients. Endoscopic gastrointestinal anastomosis therefore may be a safe and feasible technique to re-establish continuity of the digestive system following bypass in the short-term.

Pancreatic hemi-agenesis in MEN1: A clinical report.

We first describe a patient with multiple endocrine neoplasia type 1 (MEN1) and dorsal pancreatic hemi-agenesis. Previously, pancreas divisum has been reported in MEN1. Recent data in mice have elucidated the molecular mechanisms of pancreatic endoderm specification. Disinhibition of hedgehog signaling appears to be important in how Gata4 and Gata6 variants cause pancreatic agenesis. Disinhibition of hedgehog signaling has also been observed in Men1 knockout pancreatic islets. Although we cannot exclude a spurious association between dorsal pancreatic hemi-agenesis and MEN1 in our patient, we argue that developmental abnormalities of the pancreas may have to be considered as possibly related to the MEN1 phenotype.

Ultrasound in Diagnosis of Congenital Hypertrophic Pyloric Stenosis / 中国医学影像学杂志

Purpose To explore the value of Doppler ultrasound in the diagnosis of congenital hypertrophic pyloric stenosis (CHPS) by observing pylorus. Materials and Methods Sixyt-five children with CHPS diagnosed by ultrasound in Neonatology Department of Guangzhou First People's Hospital from 2006 to 2015 were retrospectively analyzed. CHPS group and 50 infants in control group were examined by Doppler ultrasound to observe the features of blood flow distribution and blood flow grading, and Doppler spectrum analysis was performed to observe contrast agent passing through pyloric canal. Results The difference of the thickness of muscular layer and mucous layer, and that of the long diameter and inner diameter of pyloric canal in CHPS group and control group all suggested marked statistical significance (P<0.01); the blood flow grading in muscular layer and mucous layer between the two groups showed statistical significance (t=13.33 and 18.77, all P<0.01). The blood flow velocity in muscular layer of CHPS group was (16.96±0.91) cm/s, resistance index (RI) 0.68±0.33, inner diameter of pyloric canal (1.98±0.33) mm. Conclusion Doppler ultrasound enables us to grasp the distribution and grading of blood flow of pylorus as well as the condition of contrast agent passing through pyloric canal, in which way the degree of pyloric stenosis can be evaluated by combining indexes such as Vmax and RI, and an objective basis for clinical choice of treatment can be provided, possessing high application value.

Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study.

BACKGROUND: Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications. METHODS: Anamnestic, clinical, and imaging data of newborns requiring abdominal surgery for GISM, between 2009 and 2014, were compared with a control group of healthy newborns. Distribution of GISM and cardiovascular abnormalities were analyzed, and risk factors for adverse outcomes were identified. RESULTS: Seventy-one newborns with isolated GISM were included in this study. More frequent GISM were intestinal rotation and fixation disorders. CHD were observed in 15.5% of patients, augmenting their risk for morbidity. Risk factors for morbidity related to sepsis were identified in central venous catheter, intestinal stoma, and H2-inhibitor-drugs. Moreover, 28.2% of newborns presented only functional cardiac disorders but an unexpectedly higher mortality. CONCLUSIONS: The high incidence of congenital heart disease in infants with apparently isolated GISM confirms the need to perform an echocardiographic study before surgery to improve perioperative management and prevent complications such as sepsis and endocarditis.

Validation of questionnaires to assess quality of life related to fecal incontinence in children with anorectal malformations and hirschsprung's disease / Validação de questionários para avaliação da qualidade de vida relacionada à continência fecal em crianças com malformações anorretais e doença de hirschsprung

Surgical treatment of anorectal malformations (ARMs) and Hirschsprung's disease (HD) leads to alterations in bowel habits and fecal incontinence, with consequent quality of life impairment. The objectives were to create and validate a Questionnaire for the Fecal Incontinence Index (FII) based on the Holschneider score, as well as a Questionnaire for the Assessment of Quality of Life Related to Fecal Incontinence in Children and Adolescents (QQVCFCA), based on the Fecal Incontinence Quality of Life. Methods: The questionnaires were applied to 71 children submitted to surgical procedure, in two stages. Validity was tested by comparing the QQVCFCA and a generic quality of life questionnaire (SF-36), and between QQVCFCA and the FII. A group of 59 normal children was used as control. Results: At two stages, 45.0% (32/71) and 42.8% (21/49) of the patients had fecal incontinence. It was observed that the QQVCFCA showed a significant correlation with the SF-36 and FII (Pearson's correlation 0.57), showing that the quality of life is directly proportional to improvement in fecal incontinence. Quality of life in patients with fecal incontinence is still globally impaired, when compared with control subjects (p<0.05, Student's t-test). There were also significant differences between the results of children with ARMs and children with HD. Conclusions: QQVCFCA and FII are useful tools to assess the quality of life and fecal incontinence in these groups of children. Children with ARMs submitted to surgical procedure and HD have similar quality of life impairment.

O tratamento cirúrgico das malformações anorretais (MAR) e da doença de Hirschsprung (DH) leva a alterações do hábito intestinal e incontinência fecal com prejuízo da qualidade de vida. Os objetivos foram criar e validar o Questionário para o Índice de Continência Fecal (ICF), baseado no Holschneider Criteria, bem como o Questionário para Avaliar a Qualidade de Vida Relativa à Continência Fecal em Crianças e Adolescentes (QQVCFCA), baseado no Fecal Incontinence Quality of Life. Métodos: Os questionários foram aplicados em 71 crianças operadas, em duas etapas. A validade foi testada por meio da comparação do QQVCFCA e um questionário genérico de qualidade de vida (SF-36) e entre o QQVCFCA e o ICF. Um grupo de 59 crianças normais foi usado como controle. Resultados: Nas duas etapas, 45,0% (32/71) e 42,8% (21/49) dos pacientes apresentaram incontinência fecal. Verificou-se que o QQVCFCA apresentou correlação significativa com o SF-36 e o ICF (correlação de Pearson 0,57) e mostrou que a qualidade de vida é diretamente proporcional à melhoria da continência fecal. A qualidade de vida no paciente com incontinência fecal está ainda comprometida globalmente, em comparação com os indivíduos controles (p<0,05; teste t de Student). Não houve ainda diferença significativa entre os resultados de crianças com MAR e crianças com DH. Conclusões: O QQVCFCA e o ICF são instrumentos úteis para a avaliação da qualidade de vida e da incontinência fecal nesses grupos de crianças. Crianças operadas de MAR e DH apresentam comprometimentos semelhantes da qualidade de vida.

[Validation of questionnaires to assess quality of life related to fecal incontinence in children with anorectal malformations and Hirschsprung's disease]. / Validação de questionários para avaliação da qualidade de vida relacionada à continência fecal em crianças com malformações anorretais e doença de Hirschsprung.

OBJECTIVE: Surgical treatment of anorectal malformations (ARMs) and Hirschsprung's disease (HD) leads to alterations in bowel habits and fecal incontinence, with consequent quality of life impairment. The objectives were to create and validate a Questionnaire for the Fecal Incontinence Index (FII) based on the Holschneider score, as well as a Questionnaire for the Assessment of Quality of Life Related to Fecal Incontinence in Children and Adolescents (QQVCFCA), based on the Fecal Incontinence Quality of Life. METHODS: The questionnaires were applied to 71 children submitted to surgical procedure, in two stages. Validity was tested by comparing the QQVCFCA and a generic quality of life questionnaire (SF-36), and between QQVCFCA and the FII. A group of 59 normal children was used as control. RESULTS: At two stages, 45.0% (32/71) and 42.8% (21/49) of the patients had fecal incontinence. It was observed that the QQVCFCA showed a significant correlation with the SF-36 and FII (Pearson's correlation 0.57), showing that the quality of life is directly proportional to improvement in fecal incontinence. Quality of life in patients with fecal incontinence is still globally impaired, when compared with control subjects (p<0.05, Student's t test). There were also significant differences between the results of children with ARMs and children with HD. CONCLUSIONS: QQVCFCA and FII are useful tools to assess the quality of life and fecal incontinence in these groups of children. Children with ARMs submitted to surgical procedure and HD have similar quality of life impairment.