Contribution of sensitivity, volume and tone to visceral perception in the upper gastrointestinal tract in man: emphasis on testing

Abstract  Upper gastrointestinal (GI) symptoms occur frequently in the general population, making them among the most common indications responsible for patients consulting the healthcare system. Consequently, understanding and characterization of the upper GI symptoms is important for the diagnosis and assessment of organ dysfunction. In practice, assessment of clinical symptoms is difficult and it is still to a large extent unclear how sensitivity, volume and tone contribute to visceral perception in the upper GI tract. The goal of advanced research in upper GI symptoms is to obtain a better understanding of the mechanisms involved in transduction, transmission, and perception under normal and pathophysiological conditions. An important step towards this goal is understanding the information provided by and the inherent limitations of the currently available measuring techniques. This article focuses on the sensory testing of the oesophagus, and methods and concepts used to assess the relation between gastric volumes or tone and upper GI symptoms. It also summarizes the contributions of these techniques towards identifying the components responsible for the generation of upper GI symptoms.     

Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders – Charcot-Marie-Tooth (CMT) disease type 1A and Duchenne muscular dystrophy (DMD). A phenotypic presentation of this patient included features of both these disorders. Nerve conduction studies revealed demyelinating peripheral neuropathy. Electromyography showed a profound myogenic pattern. The serum creatine kinase level was highly elevated. Muscle biopsy revealed a dystrophic picture with deficient dystrophin immunostaining. CMT1A duplication on chromosome 17p11.2 was found. The frame-shift mutation c.3609–3612delTAAAinsCTT (p.K1204LfsX11) was detected in the dystrophin gene by analysing mRNA isolated from the muscle tissue. The patient inherited both these mutations from his mother. The combination of CMT1A and DMD has not been reported as yet.     

Iniencephaly and long-term survival: a rare case report

Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine, and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence. This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal atresia. Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think that this patient presents a mild form of iniencephaly.     

Complement levels before and after dives with a high risk of DCS.

BACKGROUND: Previously, complement activation has been associated with decompression sickness (DCS). However data, both in humans and in animals, are controversial. Hypothesis: Complement activation and depletion occurs after exposure to the hyperbaric environment and is associated with increasing risk of DCS. METHODS: We obtained serological samples from 102 dives (120-300 feet of seawater) with a constant partial pressure of O2 set at 1.3 ATA in thirty-five U.S. Navy diver volunteers. Blood was obtained within one hour of diving and within one hour of surfacing. Plasma was extracted and analyzed for complement depletion. The risk of DCS was estimated using a validated model of DCS risk. RESULTS: Pre-post dive concentrations of C3a were significantly related to estimated risk of DCS (Figure 1), but the variation in predicted DCS explained by C3a was small (correlation co-efficient (r2 = 0.19, p < 0.0001). CONCLUSIONS: There was a reduction in total Ca3 levels in divers after exposure to dives with a high estimated risk of DCS. This decomplementation appeared to increase as the estimated risk of DCS increased.