Gastro-oesophageal reflux disease in institutionalised intellectually disabled individuals

BACKGROUND: The prevalence of reflux oesophagitis (RO) in the normally intellectual population is about 2%, while this condition in the intellectually disabled has an estimated prevalence of 10%. METHODS: We investigated the presence of RO among 1687 intellectually disabled, with an IQ < 50, from 5 different institutes in the Netherlands. All were scored for possible associated factors and reflux symptoms, and compared with the overall population (n = 1580) from the same institutes (controls). Also, the effect of treatment on symptoms was evaluated after at least one year of therapy. RESULTS: Gastro-oesophageal reflux disease (GORD) was suspected clinically in 169 patients based on the following symptoms: vomiting, haematemesis, anaemia, rumination or behaviour problems. At endoscopy RO was diagnosed in 107 of 1687 patients (6.4%): 17 (15.9%) grade I, 34 (31.8%) gr. II, 42 (39.3%) gr. III and 14 (13.1%) gr. IV RO (Savary-Miller classification). Cerebral palsy, constipation, anticonvulsant drugs, an IQ < 35, underweight and gastrostomy feeding appeared to be possible associated factors, while as reflux symptoms persistent vomiting, haematemesis, iron deficiency anaemia, rumination, and behaviour problems were found. Concerning therapy, surgery was found to be effective in 38%, H2 receptor antagonists in 60% and the proton-pump inhibitor omeprazole in 96%. CONCLUSIONS: In this group of Dutch intellectually disabled patients with IQ < 50 RO was diagnosed in about 6% (107 of 1687), mostly severe grades of oesophagitis. Several possible associated factors were significantly present. From non-specific reflux symptoms persistent vomiting was the most indicative factor. In this population the most effective treatment of RO was long-term omeprazole therapy.     

Thyrotoxicosis and renal tubular acidosis presenting as hypokalaemic paralysis

We report a case of oesophageal disease as the first manifestation in a patient with CREST syndrome. A 46-year-old man with achalasia-like syndrome developed CREST syndrome 4 years later. A pneumatic dilatation of the cardia was performed. After pneumatic dilatation the dysphagia and regurgitation disappeared but the patient developed reflux oesophagitis. Four years after diagnosis of oesophageal disease he presented with a clinical picture of CREST syndrome. An acute ileus and constipation developed later. After receiving medical therapy with omeprazole and cisapride the patient is free of oesophageal symptoms and bowel movements are normal. Oesophageal disease is common in patients with limited and diffuse scleroderma, but to our knowledge achalasia-like syndrome has not been previously described as the first manifestation of the systemic disease.     

Case report: Avoidance conditioning therapy of an infant with chronic ruminative vomiting.

Reports the treatment of a 9-mo-old infant whose life was seriously endangered by persistent vomiting and chronic rumination. An aversive conditioning paradigm, employing electric shock, significantly reduced the frequency of this maladaptive response pattern in a few, brief treatment sessions. EMG records were used in assessing response characteristics of the emesis, and in determining the shock contingencies used in therapy. Cessation of vomiting and rumination was accompanied by weight gains, increased activity level, and general responsiveness to people. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

The NLM and Grateful Med: promise, public health, and policy

OBJECTIVE: To characterize a clinical syndrome that occurs in some women who have undergone breast or axillary lymph node biopsy or partial mastectomy. MATERIAL AND METHODS: Six case reports are presented, the clinical and histopathologic findings are described, and the implications for recognition of this entity are discussed. RESULTS: Patients who had undergone partial mastectomy, breast biopsy, or axillary lymph node excision shortly thereafter had clinical signs (most notably, erythema and edema) suggestive of infectious mastitis or inflammatory breast cancer. Representative histologic sections of involved skin revealed dilated dermal vessels without specific evidence of infection or cancer. Although antibiotic therapy was generally ineffective, the clinical findings resolved with time (from 2 months to 1 year). This condition should be considered in the differential diagnosis when this circumscribed patient population has such intervention-related symptoms. CONCLUSION: This clinical syndrome may mimic an infectious or neoplastic process, but we hypothesize that it is due to interruption of lymphatic vessels. Appropriate recognition may alter the use of antibiotic therapy or surgical intervention.     

Deglutition disorders

Dysphagia is related to the impairment of food passage from the mouth to the stomach. Globus pharyngis implies the frequent and often painful sensation of a lump in the throat that usually does not interfere with swallowing and may even be relieved by food intake. The diagnosis is based upon a careful history, clinical examination, endoscopy, dynamic imaging (videofluoroscopy, cinematography, videosonography) and electrophysiologic procedures (including pharyngoesophageal manometry, electromyography and pH determinations). Structural lesions of the cervical spine such as diffuse idiopathic skeletal hyperostosis are rare causes of dysphagia. Dysphagia following anterior cervical fusion as well as globus and dysphonia due to dysfunction of the vertebral joints are more likely. Symptoms with swallowing fluids indicate a neurogenic origin. Dyscoordinated swallowing, nasal reflux, dysphonia or general weakness may also occur. Chronic aspiration with respiratory compromize is the main consequence in a variety of neurological disorders as well as in cases of postsurgical dysphagia. Relaxation of the upper esophageal sphincter indicates coordinated muscle movement between the pharynx and esophagus. Dysfunction of the pharyngoesophageal segment may lead to cricopharyngeal achalasia. A dyskinetic sphincter commonly represents an extrapharyngeal cause: i.e., disease associated with gastroesophageal reflux. Disorders of the esophageal phase of deglutition can produce retrosternal pain, heartburn, regurgitation and vomiting, as well as laryngeal and respiratory signs. Esophageal motility disorders include lower achalasia, tumors, peptic strictures, inflammatory diseases, drug-induced ulcers, rings and webs. Motility disorders present with aperistaltic, spontaneous contractions, diffuse esophagospasm, or a hypermotile esophagus. Gastroesophageal reflux with esophagitis must always be excluded, especially in patients with a globus sensation. The multiple features of the appearance of the symptoms of dysphagia and globus makes multidisciplinary approach necessary in order to establish a diagnosis and begin effective treatment.     

Primary peritonitis due to Streptococcus pneumoniae in childhood

Three patients, two boys of 5 months and 6 years and one girl aged 4 years, presented with acute abdominal pain, vomiting and fever, suggesting peritonitis. Imaging examinations (abdominal survey roentgenogram and (or) echography), exploratory laparotomy (in two patients) and blood cultures with growth of Streptococcus pneumoniae led to the diagnosis of primary peritonitis. Intravenous antibiotics led to recovery, in one patient complicated by paralytic ileus, which was treated surgically. Primary peritonitis is a rare condition which should be considered in the differential diagnosis of children with an acute abdominal syndrome. Conditions requiring surgery should be excluded by imaging examinations or laparotomy. When the diagnosis is confirmed by paracentesis or laparotomy, antibiotic treatment has to be started.     

Gastroesophageal reflux with protein-losing enteropathy and finger clubbing

Finger clubbing, protein-losing enteropathy, and iron deficiency were documented in three children with severe gastroesophageal reflux. One patient had Sandifer syndrome and the other two had the rumination syndrome. In each case, surgical repair of the gastroesophageal reflux resulted in immediate clearing of signs of the Sandifer syndrome, gastroesophageal reflux, and anemia and the return of serum protein levels to normal. There was definite regression of the finger clubbing during the ensuing year. It is suggested that finger clubbing, protein-losing enteropathy, Sandifer syndrome, and rumination be viewed as parts of an extended syndrome of unusual presentations of gastroesophageal reflux.     

Management of seizures and epilepsy

While the evaluation and treatment of patients with seizures or epilepsy is often challenging, modern therapy provides many patients with complete seizure control. After a first seizure, evaluation should focus on excluding an underlying neurologic or medical condition, assessing the relative risk of seizure recurrence and determining whether treatment is indicated. Successful management of patients with recurrent seizures begins with the establishment of an accurate diagnosis of epilepsy syndrome followed by treatment using an appropriate medication in a manner that optimizes efficacy. The goal of therapy is to completely control seizures without producing unacceptable medication side effects. Patients who do not achieve complete seizure control should be referred to an epilepsy specialist, since new medications and surgical treatments offer patients unprecedented options in seizure control.     

Granulomatous amebic encephalitis due to Balamuthia mandrillaris (Leptomyxiidae): report of four cases from Mexico

OBJECTIVE: The influence of psychogenic factors on voiding generally manifests as an irritative syndrome and rarely in the form of acute or chronic urinary retention. The diagnosis and treatment of this uncommon urological pathology are reviewed and our experience is presented. METHODS: We conducted a retrospective study on 5 patients with psychogenic urinary retention (3 males and 2 females), aged 20 to 28 years (mean age 23.4), that had been treated at our urological services over the last 6 years. Three patients (2 males and 1 female) had a history of depression, one patient had a somatic form of disorder (mimicking) and one patient was diagnosed as having schizophrenia one year after he had presented with urinary retention. The physical and neurological examinations were normal in all 5 patients and the radiological evaluation was normal in all but one patient who had bilateral hydronephrosis. The pressure/flow test disclosed absence of detrusor muscle contraction in all 5 patients; 3 had incomplete voiding by abdominal pressure and had more than 500 ml residual urine. All patients received psychiatric therapy, and intermittent catheterization and urinary rehabilitation until residual urine less than 100 ml was achieved. CONCLUSIONS: The importance of the urodynamic study in the diagnosis of this condition is underscored. Definitive diagnosis can only be established after discarding other pathologies. The initial treatment must always be conservative; irreversible surgical procedures must not be performed. Treatment is by intermittent catheterization, urinary rehabilitation and supportive psychiatric therapy.     

Those who broke the cycle: Therapy with nonabusive adults who were physically abused as children.

Based on observations of 10 nonabusive adults who were physically abused as children, it is contended that these Ss differ from abusive adults who were abused as children in significant ways. It is recommended that abused children receive intensive therapy either at the time that the abuse is discovered or at a developmentally more appropriate stage to block persistence of symptoms into adulthood. It is suggested that these nonabusive adults present a constellation of symptoms that may not be recognized as posttraumatic stress syndrome. For both the abused child and the adult a highly interactive course of therapy is recommended, during which the major goal is reparenting. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Starvation injury after gastric reduction for obesity

Gastric reduction operations are designed to control body weight by establishing a small, meal-size juxtaesophageal, gastric pouch that empties into the jejunum (gastric bypass) or the larger portion of the stomach (gastroplasty). If the outlet of the pouch is too small, a patient may be limited to ingesting clear liquids. Vomiting then occurs if heavier liquids or normal foods are taken. An occasional patient has difficulty eating properly and vomits even though the pouch volume and outlet are of optimum size. For a patient who reports vomiting, a distinction must be made between episodic improper eating and uncontrolled starvation. Three types of starvation injury are described: (1) sudden death from protein malnutrition; (2) refeeding syndrome; and (3) Wernicke-Korsakoff syndrome. The mechanisms of the development, manifestations, prevention, and treatment of these complications are explained. Surgeons who treat severe obesity should be aware of these complications and be prepared to manage patients who have uncontrolled vomiting so that such complications either do not develop or are recognized and treated as early as possible before serious and irreversible injury occurs.     

Hyperthyroidism in pregnancy

Hyperthyroidism is second to diabetes mellitus as the most common endocrinopathy in pregnancy. Inappropriate secretion of hCG is the most common cause of hyperthyroidism in the first part of gestation. In addition to hydatidiform mole and hyperemesis gravidarum, nonpathologic-conditions including multiple gestation, mild nausea and vomiting, and even normal pregnancies may present with transient undetectable or suppressed serum TSH values. The syndrome of transient hyperthyroidism of hyperemesis gravidarum is defined as severe nausea and vomiting, dehydration, ketonuria, and weight loss of more than 5% by 6 to 9 weeks of pregnancy. Thyroid tests are in the hyperthyroid range, and the abnormalities are related to the severity of symptoms. Tests normalize with resolution of the vomiting, and ATD therapy is not indicated. The natural history of Graves' disease in pregnancy is characterized by aggravation in the first trimester, amelioration in the second half, and recurrence in the year following delivery. ATD treatment is the therapy of choice in pregnancy. Either PTU or MMI may be used; the goal is to keep the FT4I in the upper limits of normal with the minimum dose of ATD. In approximately 30% of patients, ATDs may be discontinued in the last few weeks of gestation. Maternal, fetal, and neonatal complications are frequent when hyperthyroidism is not under control. Postpartum hyperthyroidism may be caused by an episode of silent thyroiditis or Graves' disease.     

Hypertensive encephalopathy: recognition and management

Hypertensive encephalopathy is a dramatic syndrome characterized by severe elevation of blood pressure, headache, visual disturbances, altered mental status, and convulsions. Although the syndrome is uncommon, to recognize and treat it promptly is important or the condition may prove to be fatal. Hypertensive encephalopathy should be distinguished from other cerebral complications of severe hypertension by obtaining careful history and performing thorough physical examination. The only definitive criterion for the diagnosis of this syndrome is its prompt response to therapy. If the patient's condition does not improve with hypotensive therapy, the physician should immediately search for alternate diagnoses. Potent drugs are available for prompt reduction of blood pressure. There are few medical emergencies in which the objective response to therapy is so strikingly apparent as in hypertensive encephalopathy.     

Gastrointestinal and nutritional aspects of eating disorders

Anorexia nervosa (AN) and bulimia nervosa (BN) are potentially fatal eating disorders which primarily affect adolescent females. Differentiating eating disorders from primary gastrointestinal (GI) disease may be difficult. GI disorders are common in eating disorder patients, symptomatic complaints being seen in over half. Moreover, many GI diseases sometimes resemble eating disorders. Inflammatory bowel disease, acid peptic diseases, and intestinal motility disorders such as achalasia may mimic eating disorders. However, it is usually possible to distinguish these by applying the diagnostic criteria for eating disorders and by obtaining common biochemical tests. The primary features of AN are profound weight loss due to self starvation and body image distortion; BN is characterized by binge eating and self purging of ingested food by vomiting or laxative abuse. GI complications in eating disorders are common. Recurrent emesis in BN is associated with dental abnormalities, parotid enlargement, and electrolyte disturbances including metabolic alkalosis. Hyperamylasemia of salivary origin is regularly seen, but may lead do an erroneous diagnosis of pancreatitis. Despite the weight loss often seen in eating disorders, serum albumin, cholesterol, and carotene are usually normal. However, serum levels of trace metals such as zinc and copper often are depressed, and hypophosphatemia can occur during refeeding. Patients with eating disorders frequently have gastric emptying abnormalities, causing bloating, postprandial fullness, and vomiting. This usually improves with refeeding, but sometimes treatment with pro-motility agents such as metoclopromide is necessary. Knowledge of the GI manifestations of eating disorders, and a high index of suspicion for one condition masquerading as the other, are required for the correct diagnosis and management of these patients.     

Bartonella endocarditis on native valves. Apropos of 2 cases

The authors report two cases of Bartonella endocarditis in native valves. The first case was a 15 year old North African Girl who lived in poor social conditions and was admitted to hospital with pyrexia and congestive heart failure. Investigations revealed massive mitral regurgitation due to ruptured chordae tendinae, vegetations on the pulmonary valve with severe pulmonary hypertension due to persistent ductus arteriosus. After antibiotic therapy, the patient underwent surgery for mitral valve replacement, pulmonary valvuloplasty and closure of the patent ductus arteriosus. The second case was a 39 year old man with no fixed abode with a history of alcoholism who presented with a recurrent ischaemic stroke in a context of infection with a murmur of aortic regurgitation. Echocardiography showed a vegetation on the aortic valve with grade III/IV regurgitation requiring aortic valve replacement with a homograft after antibiotic therapy. The aetiological diagnosis was made a posteriori by the finding of high antibody titres and specific genetic amplification of Bartonella. In patients with negative blood cultures, Bartonella infection should be looked for systematically especially in those living under poor social conditions. The practical diagnostic investigation of endocarditis with negative blood cultures is reviewed.     

Food allergy. Most often conceals an inhalational allergy

Food allergy (hypersensitivity) is a form of adverse food reaction in which the reaction is caused by an immunological response to a food. Most immediate allergic reactions to food are IgE-mediated. The prevalence of food allergy in the general population without the oral allergy syndrome is about 1-2%. Although many foods have been described to cause an allergic reaction, only a few are responsible for the majority of hypersensitivity symptoms. Based on continuous studies by B. Wüthrich, Allergy Unit of the Dermatology Department, University Hospital, Zurich, celery (42%) followed by dairy products (16%), carrot (13%), hen's egg (12%) and fish (7%) is by far the major source of food allergy in Switzerland. In adults food hypersensitivity is mainly due to cross-reactivity between inhalative and food allergens. Pathophysiologically, IgE antibodies induced by aeroallergens recognize structurally similar components in certain foods even from taxonomically unrelated plants. Following an accurate allergological examination, oral provocation tests are considered the most conclusive procedures to establish diagnosis. The only proven form of management in food allergy is strict elimination of the offending food. Food-allergic patients must be provided with emergency medications. Identification of allergens and their characterization finally will improve our understanding for pathophysiologic mechanisms of food allergy.     

Explaining the gender difference in depressive symptoms.

It was hypothesized that women are more vulnerable to depressive symptoms than men because they are more likely to experience chronic negative circumstances (or strain), to have a low sense of mastery, and to engage in ruminative coping. The hypotheses were tested in a 2-wave study of approximately 1,100 community-based adults who were 25 to 75 years old. Chronic strain, low mastery, and rumination were each more common in women than in men and mediated the gender difference in depressive symptoms. Rumination amplified the effects of mastery and, to some extent, chronic strain on depressive symptoms. In addition, chronic strain and rumination had reciprocal effects on each other over time, and low mastery also contributed to more rumination. Finally, depressive symptoms contributed to more rumination and less mastery over time. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Macroamylasemia in HIV infection

A case of macroamylasemia was seen in a 40-year-old HIV-positive bisexual male treated at the Fort Worth-Tarrant County Health Department (Ryan White Clinic). Macroamylasemia is a rare condition encountered sometimes in persons with HIV infection. Apart from the setting of HIV infection and acquired immunodeficiency syndrome, macroamylasemia is seen also in various conditions including liver disease, diabetes, cancer, malabsorption, and autoimmune disorders. Although this biochemical phenomenon requires no therapy, it should be considered in the differential diagnosis of patients who have persistently high levels of serum amylase and yet do not exhibit any clinical symptoms of pancreatitis or salivary gland inflammation.     

Drug-related Churg-Strauss syndrome?

Churg-Strauss syndrome (CSS) is a rare disease belonging to the group of necrotizing vasculitides affecting medium and small vessels, classified together with Wegener granulomatosis and microscopic polyarteritis. The literature is reviewed concerning vasculitides associated with drug use, focusing on CSS. A representative case of CSS is reported, in whom the possibility could not be excluded that oestrogen replacement therapy contributed to the onset of CSS. The case of a 56-year-old female patient is presented who had a history of allergic rhinitis and steroid-dependent asthma for years. To prevent postmenopausal complaints and further loss of bone density, she received oestrogen replacement therapy. After three months of hormone therapy, signs of CSS appeared. Oestrogen administration (1 mg norethisterone acetate, 1 mg oestriol and 2 mg oestradiol daily) was stopped. The diagnosis was confirmed by the clinical appearance, laboratory tests and tissue biopsies. The patient received corticosteroids and cyclophosphamide treatment and subsequently the eosinophil count returned to normal within two weeks and her condition improved significantly.     

Computed tomography in the emergency department

We report a neonatal case of severe, life-threatening Kasabach-Merritt syndrome that was successfully treated with interferon-alpha: This patient had a huge hemangioma of the right leg and a general bleeding tendency. Although the condition initially responded to steroid and radiation therapy, after a relapse, no therapy including steroids, radiation, aspirin, and dipyridamole was effective. Because of severe thrombocytopenia and extension of the hemangioma to the pelvic region, surgical intervention was not indicated. Interferon-alpha therapy was started on day 61 of life. During the therapy the platelet counts increased by more than tenfold and reached the normal level in a month. The size of the hemangioma dramatically decreased. The administration of interferon-alpha might be indicated as a therapy for severe, life-threatening Kasabach-Merritt syndrome, especially when there is resistance to steroid or radiation therapy.