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.     

All five digits of the hands of fetuses with Down syndrome are short.

OBJECTIVE: To compare mid-gestation sonographic measurements of all five digits of the hands of fetuses with Down syndrome with those of normal controls. METHODS: Twenty-nine fetuses between 17 and 26 weeks' gestation which had been confirmed by karyotyping to have Down syndrome were included in this prospective study. Each fetus was scanned once and the digits of only one hand were measured. Measurements were compared with those of 302 previously reported normal controls matched for gestational age. All measurements were expressed in multiples of the gestation-specific normal median (MoM) for each digit. RESULTS: Compared to 1 MoM for the length of Digits 1 to 5 from the normal population, the respective values in the Down syndrome digits were: 0.94, 0.85, 0.92, 0.88 and 0.85 MoM, representing values significantly lower than normal (P < 0.05; t-test). CONCLUSIONS: All five digits of the hands of fetuses with Down syndrome are shorter than are those of euploid fetuses. Integration of fetal digit measurement into the antenatal assessment of selected high-risk cases may be of value although confirmation of our findings should be obtained before this measurement is incorporated into Down syndrome screening in the general population.     

Rhinolith: An unusual presentation

A case of rhinolith in a 60 years old male prsenting with palatal performation is, presented alongwith a brief discussion on the pathogenesis and treatment.     

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.     

PM01SPINAL CORD STIMULATION FOR CHRONIC REFRACTORY ANGINA

Spinal cord stimulation (SCS) involves the use of an epidurally placed, multiple electrode lead. Electrical stimulation between electrodes produces stimulation of the posterior spinal cord and can provide excellent pain relief and increased blood flow in a number of chronic limb pain conditions. Its efficacy has more recently been demonstrated in angina. Chronic stable angina pectoris is a major cause of disability and suffering. The aims of treatment are to prevent MI and death (increase the quantity of life) and reduce the symptoms (improve the quality of life). In the non‐acute condition, practitioners often struggle to manage angina because of a lack of understanding of modern concepts of pain. There is a widely held misconception that only revascularisation improves prognosis in chronic refractory angina‐ the term used to describe patients with stable angina that is treatment refractory. Over the last decade two pain services in New Zealand have been approached by cardiologists to provide spinal cord stimulation for such patients. This has been an intriguing experience! We have demonstrated that the placement of such leads in the lower cervical cord region provides excellent relief of angina. The technology is expensive (akin to the overall cost of CAVG surgery). We have demonstrated cost recoupment, by decreased hospitalisation, at approximately16 months post procedure. Sadly, this therapy has not been embraced. Possible reasons for this will be discussed. The concept of electrically modifying the neuronal signals versus re‐plumbing the blockage appears to be an anathema to cardiologists.