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de Lange syndrome: a clinical review of 310 individuals.

Three hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and examined in conjunction with the parent support group. One hundred thirty-four males and 176 females whose ages ranged from birth to 37 years made up the study group. Examination findings were recorded for those features described by de Lange in her original report of the syndrome to determine the frequency and significance of each. In addition, questionnaires were completed by 128 of these families and medical, growth and developmental records were collected. The clinical diagnosis seems best supported by the facial features of the syndrome including the long eyelashes and confluent eyebrows (synophrys), although additional characteristics are needed. Only 27% had the upper limb deficiencies commonly associated with the syndrome. Growth was retarded in nearly all individuals, often of prenatal onset. Medical problems occurred frequently and most often involved the eye and ear, as well as the cardiac and gastrointestinal systems. Of 14 deaths, almost half were secondary to cardiac or gastrointestinal complications. The recurrence risk in 377 sibs of the patients was calculated to be less than 1%. Although development lagged significantly in speech, most individuals developed good self-help skills. The study demonstrated a higher proportion of patients affected mildly with the syndrome than is commonly appreciated. This underscores the importance of early recognition and appropriate medical and developmental support.

Adolescent↗

Protective effect of melatonin on antioxidative system in experimental ischemia-reperfusion of rat small intestine.

AIMS: Effect of exogenously administered melatonin (N-acetyl 5-methoxytryptamine) on antioxidant systems in experimental Ischemia-Reperfusion (I-R) of rat gastrointestinal system (GIS) was examined. METHODS: A total of 40 rats were divided into 4 groups: Group 1 (Sham), Group 2 (I-R), Group 3 (I-R + 10 mg/kg melatonin) and Group 4 (I-R + 20 mg/kg melatonin). Activity levels of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) were determined in small intestines. RESULTS: There was a significant (p<0.05) reduction in GSH-Px levels in Group 2 (64.16+/-7.02 U/mg protein) compared to Group 1 (80.15+/-9.32 U/mg protein). We observed a meaningful increase in GSH-Px levels in melatonin applied groups (Group 3: 75.94+/-9.83 U/mg protein, Group 4: 78.55+/-9.11 U/mg protein) compared to Group 2. Correspondingly, SOD activity levels were significantly reduced (p<0.001) in Group 2 (24.14+/-4.35 U/mg protein) compared to controls (52.91+/-6.13 U/mg protein). A stronger effect (p<0.001) of melatonin was observed on SOD levels compared to GSH-Px levels in both doses (Group 3: 38.96+/-6.39 U/mg protein, Group 4: 43.07+/-7.76 U/mg protein). Levels of selenium were reduced significantly in Group 2 (1.11+/-0.31 microg/g tissue) compared to Group 1 (2.01+/-0.19 microg/g tissue). Melatonin application in Group 3 (1.13+/-0.28 microg/g tissue) and Group 4 (1.89+/-0.48 microg/g tissue) caused an increase in selenium levels. There was a strong correlation between increases in selenium and GSH-Px levels in Group 4 (r:0.651 p<0.01). CONCLUSIONS: Melatonin seems to exert its antioxidant effect in GIS tract by stimulating SOD and GSH-Px. Selenium also seems to have an antioxidant contribution on protecting rat gastrointestinal tract I-R injury.

Animals↗

A method for simultaneous measurement of intragastric, intraduodenal, and intracolonic pressures in the bilaterally vagotomized spinal rat.

A method has been developed where quantitative evaluation of intragastric (IGP), intraduodenal (IDP), and intracolonic (ICP) pressures (cm H2O) can be obtained in the bilaterally vagotomized spinal rat. The preparation is very sensitive to 5-hydroxytryptamine (5-HT) and 5-HT-agonists, carbachol, histamine, dopamine, and/or noradrenaline. The effects of drugs on IGP, IDP, and ICP (increase or decrease) can be assessed and a dose-response curve before and after antagonists can be computed. The described experimental model is simple, reliable, reproducible, and appropriate to study and differentiate the different gastrointestinal system receptors that seem to be involved in the modulation of gastrointestinal motility. The additional advantage in using this method is that drug effects on the motility of stomach, duodenum, and colon can be investigated simultaneously.

Animals↗

Oral retinoid therapy for dermatologic conditions in children and adolescents.

The efficacy of systemic retinoid therapy in a number of dermatologic diseases is well established; however, concerns about potential side effects limit their use, especially in children. We review the efficacy and toxicity of oral retinoids in the pediatric population. The acute mucocutaneous toxicities commonly observed are typically well tolerated, readily treatable, and reversible. Systemic toxicities include teratogenicity and effects on the musculoskeletal, neurologic, and gastrointestinal systems. Children, like adults, generally tolerate short-term retinoid therapy without major complications. Concerns regarding serious systemic side effects are greater for those on high doses of oral synthetic retinoids for longer periods of time. Close patient monitoring and patient education can minimize the occurrence of complications. (J Am Acad Dermatol 2003;49:171-82.)Learning objective At the conclusion of this learning activity, participants should be familiar with use of oral retinoids for childhood dermatologic conditions such as psoriasis, acne, and ichthyoses as well as safety and risks associated with oral retinoid use in children and adolescents.

Acne Vulgaris↗

Eosinophilic gastroenteritis and citrus-induced urticaria.

The immunological basis of eosinophilic gastroenteritis (EGE) is an interesting contrast between the enigma of urticaria and the increasing usage of molecular technology in clinical allergy. Little is known about the natural history of EGE. It has been known to spontaneously remit, but the typical course, especially in adults, is one of chronic and intermittent disease. Given the often chronic nature of this disease, it is important to use relatively benign treatments initially and limit the use of systemic corticosteroids. Also, given the fact that eosinophilic infiltration of the gastrointestinal tract may also be a manifestation of other potentially dangerous disease processes, such as malignancy or hypereosinophilic syndrome, which may be initially diagnosed as EGE, routine surveillance of the cardiopulmonary and gastrointestinal systems is important. We present a patient who demonstrates the variability of presentation and treatment response in this multifaceted disease. The fact that he has apparently entered remission also makes his an uncommon presentation of EGE.

Citrus paradisi↗

[Somatization in post-traumatic stress disorders in soldiers during the war in Bosnia-Herzegovina].

While researching psychological disorders in soldiers during the war in Bosnia, besides the psychiatric simptomatology in post trauma stress disorder (PTSD), we analyzed also expressed somatic symptoms. The sample consists of 164 soldiers from the first front lines, divided into three groups: Group A (N = 51), soldiers who during the war asked for psychological and/or psychiatric help, group B (N = 51) soldiers who are after the war on stationary or clinical treatment and group C (N = 62) soldiers who during and after the war, did not ask for psychiatric help even though they had psychiatric problems. With the trauma questionnaire and obvious PTSD symptoms the degree of the traumatic experience and the structure of PTSD was determined, and with the self-evaluation health condition questionnaire the subjective health condition evaluation during the prewar, war and the time after the war was determined with expressed physical disorders. Another important difference was determined (P < 0.01) between soldiers who had a high stress level and suffered from PTSD, who asked during and after the war for psychological and/or psychiatric help (groups A and B) and soldiers who suffered less from PTSD and who did not ask for professional help during nor after the war (group C). 60.8% soldiers in group C and 42.1% in group B during the war, and 41.3% in group A and 92.2% in group B after the war, points out their weak or very weak health condition compared with the soldiers from group C, where 1.6% during the war and 9.7% after the war pointed out their weak or very weak health condition. Somatic symptoms are mainly in conjunction with the cardiovascular system, 47.1% in group A and 78.4% in group B, also gastrointestinal system, 50.9% in group A and 37.3% in group B, followed by back pains, 31.4% in group A and 43.1% in group B. The first signs of somatic symptoms are in direct connection with first signs of traumatic experience and first signs of PTSD symptoms. The results confirm previous researches and that is that soldiers with traumatic experiences which they can hardly bare and who suffer for a long period of time from PTSD have also the biggest number of somatic symptoms.

Adult↗

Gastrointestinal complications in bone marrow transplant patients.

Complications of bone marrow transplantation are numerous, multifactorial and may affect any organ in the body. The involvement of the gastrointestinal system represents one of dominant sites of complications. Clinical management of gastrointestinal complications can be challenging in these patients. This overview summarizes common bone marrow transplantation related conditions affecting esophagus, stomach, small and large intestine as well as liver. These are discussed primarily from the clinical point of view with emphasis on the differential diagnosis. The histomorphologic features of these conditions are discussed as well.

Bone Marrow Transplantation↗

Lymphomatoid granulomatosis: a rare mimicker of vasculitis.

Lymphomatoid granulomatosis (LG) is a rare Epstein-Barr virus-associated lymphoproliferative disorder, with a propensity for blood vessel destruction. Although it most commonly affects the lung, it can affect multiple extrapulmonary sites (i.e., skin, nervous system, gastrointestinal tract, liver, spleen, kidney, and heart). Since LG often mimics systemic vasculitis, it presents a diagnostic clinical challenge. We describe a case of LG with no pulmonary involvement, which was thought to be systemic vasculitis on the basis of multiorgan involvement and biopsy findings.

Diagnosis, Differential↗

[Inflammatory bowel disease and lung].

Ulcerative colitis and Crohn's disease are associated with a variety of systemic manifestations. Pulmonary disease has been described much less frequently than other organ systems, yet more than 400 cases have been reported. Lung and gastrointestinal system are originated from primitive gut and they have same pathogenetic changes in these patients. Major patterns of pulmonary disease associated with inflammatory bowel disease (IBD) are pleuritis, airway disease, interstitial lung disease, necrobiotic nodules, pulmonary eosinophilia, thromboembolic disease, vasculitis, granulomatous lung disease, etc. Colectomy may aggravate respiratory symptoms. Drug induced disease must be kept in mind in patients taking sulfasalazine, mesalamine, methotrexate, and anti-TNF-alpha. Latent pulmonary abnormalities are evident either at pulmonary function tests or induced sputum or bronchoalveolar lavage, have been also reported in patients with inflammatory bowel disease in the absence of clinical evidence of airway disease. The treatment of IBD related respiratory involvement depends on the specific pattern of involvement, if left untreated, especially in airway disease, puts the patient at risk of developing irreversible destruction of the air passage. A high degree of suspicion is necessary to detect early the respiratory disease in association with any form of bowel disease.

Colitis, Ulcerative↗

In vivo pharmacology of L-364,718, a new potent nonpeptide peripheral cholecystokinin antagonist.

The in vivo pharmacological activity of L-364,718, a new, potent peripheral cholecystokinin (CCK) antagonist, was characterized in several species using assay systems that measure various well known actions of CCK upon the gastrointestinal system. Administered p.o., L-364,178 was highly potent in antagonizing cholecystokinin octapeptide (CCK-8)-induced inhibition of gastric emptying in mice (ED50 = 38 micrograms/kg), rats (ED50 = 140 micrograms/kg) and dogs (ED50 = 91 micrograms/kg) as well as CCK-8-induced reduction in food consumption in rats (ED50 = 321 micrograms/kg). Administered i.v., L-364,718 effectively antagonized the contractile effects of CCK on the colon in rabbits (ED50 = 34 micrograms/kg) and the gallbladder in cats (ED50 = 210 micrograms/kg). Secretion of pancreatic protein and amylase elicited by CCK in cats was also antagonized by L-364,718 (ED50 less than 1.0 mg/kg i.v.). The CCK antagonism produced by L-364,718 in all species persisted for at least 2 to 5 hr. In the absence of exogenously administered CCK-8, L-364,718 per se had no effect in any of the assay systems studied, indicating a lack of CCK-like agonist properties. Specificity for CCK was demonstrated by the inability of L-364,718 (1.0-5.0 mg/kg) to antagonize either amino acid- or atropine-induced inhibition of gastric emptying in rats and dogs, respectively. L-364,718 also did not antagonize motilin-induced gallbladder contractions or secretin-induced pancreatic secretion in cats.(ABSTRACT TRUNCATED AT 250 WORDS)

Amylases↗

[Idiopathic hypereosinophilic syndrome].

The idiopathic hypereosinophilic syndrome is a heterogeneous group of disorders characterized by persistent eosinophilia of undetected cause, and multiple organ system involvement. The systems affected include the central and peripheral nervous, cardiovascular, respiratory and gastrointestinal systems and the kidneys, skin, muscles and joints. Treatment is mainly by immunosuppressive drugs to prevent organ system complications. Prognosis is variable, depending mainly on heart involvement.

Female↗

Gastrointestinal pneumocystosis in HIV-infected patients on aerosolized pentamidine: report of five cases and literature review.

Extrapulmonary infection with Pneumocystis carinii in AIDS patients on aerosolized pentamidine is occurring more frequently. We report five patients diagnosed with gastrointestinal pneumocystosis while on aerosolized pentamidine prophylaxis and have identified infections involving the peritoneum, liver, and transverse colon, as well as stomach and duodenum. Physicians should have a high index of suspicion for extrapulmonary pneumocystosis, especially involving the gastrointestinal system, in HIV-infected patients, and early diagnosis must be pursued aggressively. The use of aerosolized pentamidine as prophylaxis for P. carinii pneumonia is not protective against gastrointestinal pneumocystosis because of inadequate systemic distribution of the drug. To our knowledge, this is the first report in a clinical journal documenting and photographing P. carinii organisms in ascitic fluid.

Adult↗

Laparoscopy for benign disease: robotics.

Currently available robotic surgical systems appear to be particularly suited for use in benign diseases of the gastrointestinal system. Minimally invasive operations for foregut conditions, such as gastroesophageal reflux disease and achalasia, require excellent visibility and precise tissue dissection. Benign lower gastrointestinal diseases, including inflammatory bowel disease and diverticulitis, also can be approached using robotic assistance. Disadvantages include expense and the loss of tactile feedback. Early clinical results are promising.

Gastrointestinal Diseases↗

Comparative studies of gastrointestinal colonization and systemic spread by Candida albicans and nonlethal yeast in the infant mouse.

Studies of host-parasite interactions involved in gastrointestinal and systemic candidosis have been hampered by the lack of suitable animal models which mimic the disease in humans. The infant mouse has proved to be a realistic and useful model for studies of candidosis. Oral-intragastric inoculation of infants leads to systemic spread and lethality without use of compromising procedures. Not all species or strains of Candida inoculated via this route are lethal to the infant mouse nor do they demonstrate the same degree of persistence. Certain strains of C. albicans display long term colonization of the GI tract and such persistently infected mice resemble the situation in humans with C. albicans as a common, but quantitatively minor, component of the flora of the alimentary tract. The infant mouse model thereby has the potential of providing an excellent tool for experimental modification of the GI flora which reflects the situation in debilitated and compromised humans that leads to alterations of the host-pathogen balance favoring development of candidosis. This paper provides additional evidence for the validity of the infant mouse model for investigations of gastrointestinal and systemic candidosis by comparing colonization and systemic spread of two strains of C. albicans (Ca 30 and NS 33), C. guilliermondii, Saccharyomyces cerevisiae and latex beads.

Animals↗

Prevalence of congenital malformations and genetic diseases in Korea.

A nationwide investigation of congenital malformations and genetic diseases in Korea was conducted by analyzing Medical Insurance data for infants aged under 1 year. Medical Insurance data were obtained for 1993 and 1994 and the ICD-9 (International Classification of Diseases, Ninth Revision) code was used to classify the diseases. The coverage rate of medical insurance was approximately 95% of the total population. Anomalies of the cardiovascular, musculoskeletal, and gastrointestinal systems, in descending order of frequency, were more frequent than anomalies in other systems. The average prevalence of cardiovascular anomalies for 1993 and 1994 was 15 per 1000 infants, and ventricular septal defect, with an average prevalence of about 3.50 per 1000 for 1993 and 1994, was the most frequent cardiovascular anomaly in infants. Polydactyly was the most frequent musculoskeletal anomaly, with an average prevalence, for 1993 and 1994, of about 1.20 per 1000 infants. Anencephaly had the highest frequency of nervous system anomalies. Congenital hypertrophic pyloric stenosis was the most common of the gastrointestinal anomalies. The prevalence of the congenital malformations and genetic diseases examined was similar to that reported in other countries. Total medical expenses for the care of patients with each disease entity were also estimated. The highest medical expenses were incurred for ventricular septal defect, congenital coagulation factor VIII disorders, atrial septal defect, tetralogy of Fallot, and spinal anomalies, in descending order of magnitude. This investigation could be helpful in planning social welfare systems, as well as for elucidating the current status of congenital malformations and genetic diseases in Korea, and in other Asian countries.

Cardiovascular Abnormalities↗