Atrial fibrillation in father and son after ingestion of cold substances

A man and his father each developed atrial fibrillation after the ingestion of a frozen sweet. In the son, atrial fibrillation recurred with the subsequent ingestion of cold beverages. Neither patient had documented episodes of atrial fibrillation at any other time. The son also had multiple other episodes of palpitation, suggesting brief episodes of atrial fibrillation, and these occurred only with the ingestion of cold substances. Possible mechanisms include direct cooling of the left atrium through the wall of the esophagus and autonomic stimulation by the cold substance.     

Oropharyngeal tularemia in father and son after consumption of under-cooked rabbit meat

Tularemia has been recognized for more than 10 y in Serbia, since the first epidemic of tularemia occurred in Sokobanja region in 1999. We report 2 cases of oropharyngeal tularemia in a father and son after the consumption of under-cooked rabbit meat. Both presented with fever, unilateral tonsillopharyngitis and cervical lymphadenitis.     

Idiopathic multicentric osteolysis. Report of an affected father and son

Genetic, rheumatologic, immunologic, metabolic, and renal studies of a father and son with idiopathic multicentric osteolysis are reported. The disorder appeared through mutation. The father developed symptoms as an infant, his son at age 4 years and 9 months. Both have micrognathia and hypotelorism and were exceptionally tall during the symptomatic phase of their disease. Biopsies of the son's wrist showed normal synovium, encroachment on cartilage by fibrocellular tissue, and both osteoclastic resorption and repair of affected bone. Hydroxyproline in his urine was increased. No immunologic, renal, or other metabolic abnormalities were identified.     

Arrhythmogenic right ventricular dysplasia presenting with ventricular tachycardia in a father and son

A father and his son presented with ventricular tachycardia of left bundle-branch block configuration, two years apart. The patients had no clinical signs of right or left ventricular dysfunction. The diagnosis of arrhythmogenic right ventricular dysplasia was based on right ventricular angiographic and radionuclide findings. Microscopic sections obtained at surgery for the ventricular tachycardia in the father revealed abnormal infiltration of fat and focal fibrosis in the right ventricular myocardium, confirming the diagnosis. The importance of thorough evaluation of right and left ventricular function and structure in patients with ventricular tachycardia of right ventricular origin is emphasized. Currently available diagnostic techniques and management are presented.     

A father and son with Turcot's syndrome: Evidence for autosomal dominant inheritance

Typical Turcot's syndrome is characterized by the association of a brain glioma together with multiple colonic polyposis, in which the number of polypoid lesions is small and the association of colonic cancer occurs at a younger age than in familial adenomatous polyposis. We describe a family in which both the father and his son presented with typical Turcot's syndrome without parental consanguinity. This is the first report of a family that is considered to follow an autosomal dominant inheritance. After reviewing 25 documented cases in which the average age of death was 20.3 years old, it was learned that the major cause of death was brain tumor (76 percent) and the minor cause was colon cancer (16 percent). Patients were very young and, therefore, unlikely to have produced a child before their death. These facts seem to support the theory that Turcot's syndrome is an autosomal dominant disorder.     

贲门失弛缓症

贲门失弛缓症是一种病因尚未明确、累及食管平滑肌和下食管括约肌（LES）的动力障碍性疾病。以吞咽时食管体部蠕动消失、LES松弛障碍为特征,临床表现为吞咽困难和胸痛等。本病可根据临床表现结合内镜、食管钡餐造影和食管动力学检查等确诊。本文就贲门失弛缓症的流行病学现状、发病机制、临床表现和诊断相关研究进展作一概述。     

Achalasia

Opinion statement  The optimal treatment of achalasia includes several options and presents a challenge for most gastroenterologists. There are numerous patient variables that must be assessed including age, degree of symptoms, duration of disease, desires of each patient, and related comorbidities. Treatment includes both medical and surgical options, with medical therapy further subclassified into pharmacologic and pneumatic dilation. Pneumatic dilations with a polyethylene dilator (sizes of 3.0, 3.5, and 4.0 cm) and laparoscopic myotomy represent the most common forms of therapy. A graduated increase in dilator size, based on symptomatic response, minimizes complications and is successful in more than 90% of patients. Further dilations or adjustment of pharmacologic therapy should be based on symptoms, weight gain, and a timed barium meal. Referral for myotomy should be considered for patients who do not respond to medical therapy or individuals that do not desire pneumatic dilations. Most patients responding to botulinum toxin (Botox; Allergan, Irvine, CA) injections will require repeat treatment at 3- to 6-month intervals. Due to cost constraints, Botox therapy should be reserved for patients who are at an increased risk from possible complications of a dilation or surgery, or those with less than 2 years of life expectancy. The most cost-effective course of therapy per patient cured over a 5-year period is pneumatic dilation, then Botox, and finally laparoscopic myotomy.     

Achalasia

Achalasia is a rare motor disorder of the oesophagus, characterised by the absence of peristalsis and impaired swallow-induced relaxation. These motor abnormalities result in stasis of ingested food in the oesophagus, leading to clinical symptoms, such as dysphagia, regurgitation of food, retrosternal pain and weight loss. Although it is well demonstrated that loss of myenteric oesophageal neurons is the underlying problem, it still remains unclear why these neurons are preferentially attacked and destroyed by the immune system. This limited insight into pathophysiology explains the fact that treatment is limited to interventions aimed at reducing the pressure of the lower oesophageal sphincter. The most successful therapies are clearly pneumatic dilatation and Heller myotomy with short-term success rates of 70-90%, declining to 50-65% after more than 15 years. The challenge for the coming years will undoubtedly be to get more insight into the underlying disease mechanisms and to develop a treatment to restore function.     

Achalasia

Achalasia is a rare motor disorder of the esophagus, characterized by the absence of peristalsis and impaired swallow-induced relaxation. These motor abnormalities result in stasis of ingested food in the esophagus, leading to clinical symptoms, such as dysphagia, regurgitation of food, retrosternal pain and weight loss. Etiology is unknown. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor. Association of achalasia with viral infections and auto-antibodies against myenteric plexus has been reported, but the causal relationship remains unclear. In terms of diagnosis, esophageal manometry is the gold standard to diagnose achalasia. Still, its role in post-treatment surveillance remains controversial. Radiological studies support the initial diagnosis of achalasia and have been proposed for detecting preclinical symptomatic recurrence. Although endoscopy is considered to have a poor sensitivity and specificity in the diagnosis of achalasia, it has an important role in ruling out secondary causes of achalasia. Treatment is strictly palliative. Current medical and surgical therapeutic options (pneumatic dilation, surgical myotomy, and pharmacologic agents) aimed at reducing the lower esophageal sphincter (LES) pressure and facilitating esophageal emptying by gravity and hydrostatic pressure of retained food and liquids.     

Achalasia

Achalasia is a chronic illness that can be treated effectively in 65 to 90 per cent of patients with either pneumatic dilatation or Heller esophagomyotomy. Prior to institution of therapy, clinicians must rule out secondary achalasia, especially malignancy-associated achalasia, with upper endoscopy, and if the clinical history is worrisome for malignancy, with a computerized tomography scan of the chest and abdomen. Medical therapy with isosorbide dinitrate or nifedipine is occasionally useful for temporary control of dysphagia prior to a more definitive treatment or for the elderly or medically complicated patient who has increased risks for surgery. Complications of pneumatic dilatation, though rare, can be recognized with the use of postprocedure contrast studies of the esophagus and monitoring the patient for 6 hours after the dilatation. The appropriate long-term management of the patient must include personal support and a clear understanding of the potential for developing complications.