Effects of stellate ganglion block on cerebral haemodynamics as assessed by transcranial Doppler ultrasonography

Background. Stellate ganglion block (SGB) causes vasodilatationin the skin of the head and neck because of regional sympatheticblock. Its effects on cerebral haemodynamics, in health or indisease, are not clear. We evaluated the effects of SGB on ipsilateralmiddle cerebral artery flow velocity (MCAFV), estimated cerebralperfusion pressure (eCPP), zero flow pressure (ZFP), carbondioxide reactivity (CO₂R) and cerebral autoregulation usingtranscranial Doppler ultrasonography (TCD). Methods. Twenty male patients, with pre-existing brachial plexusinjury, and undergoing SGB for the treatment of complex regionalpain syndrome of the upper limb, were studied. For SGB, 10 mlof plain lidocaine 2% was used and the onset of block was confirmedby presence of ipsilateral Horner's syndrome. The MCAFV, eCPP,ZFP, CO₂R, and cerebral autoregulation were assessed beforeand after SGB using established TCD methods. The changes inthese variables were analysed using Wilcoxon's signed rank test. Results. The block caused a significant decrease in MCAFV frommedian (inter-quartile range) value of 61 (53, 67) to 55 (46,60) cm s^–1, a significant increase in eCPP from 59 (51,67) to 70 (60, 78) mm Hg, and a significant decrease in ZFPfrom 32 (26, 39) to 25 (16, 30) mm Hg. There were no significantchanges in CO₂R or cerebral autoregulation. Conclusion. The increase in eCPP, decrease in ZFP, and no changesin CO₂R or cerebral autoregulation suggest that the SGB decreasescerebral vascular tone without affecting the capacity of thevessels to autoregulate. These effects may be of therapeuticadvantage in relieving cerebral vasospasm in certain clinicalsettings.     

Failure of percutaneous endoscopic resection of a renal cystic nephroma on longer-term follow-up

In 2005 we reported in this journal the treatment of cystic nephroma, a rare but presumed benign renal tumor, with percutaneous resection. Initial follow-up confirmed removal of the intra-pelvic portion of the cystic nephroma and persistence of the unresected intra-parenchymal portion. Surveillance with computed tomography revealed gradual regrowth of the mass, ultimately resulting in a size greater than that at the time of initial resection. Laparoscopic radical nephrectomy without adrenalectomy revealed benign cystic nephroma.     

Intra-ocular pressure changes associated with intubation with the intubating laryngeal mask airway compared with conventional laryngoscopy

This open, prospective, randomised study was designed to evaluate the changes in intra-ocular pressure and haemodynamics after tracheal intubation using either the intubating laryngeal mask airway (ILMA) or direct laryngoscopy. Sixty adult patients, ASA physical status 1 or 2 with normal intra-ocular pressure were randomly allocated to one of the two techniques. Anaesthesia was induced with propofol followed by rocuronium. Tracheal intubation was performed using either the ILMA or Macintosh laryngoscope. Intra-ocular pressure, heart rate and blood pressure were measured immediately before and after tracheal intubation and then minutely for five minutes. In the laryngoscopy group there was a significant increase in intra-ocular pressure (from 7.2+/-1.4 to 16.8+/-5.3 mmHg, P<0.01), which did not return to pre-intubation levels within five minutes, and also in mean arterial pressure after tracheal intubation, which returned to baseline levels after five minutes. In the ILMA group there were no significant changes in intra-ocular pressure (from 7.6+/-1.8 to 10.4+/-2.8 mmHg, P >0.05) or mean arterial pressure after tracheal intubation. Time to successful intubation was longer with the ILMA, 56.8+/-7.8 seconds, compared with the laryngoscopy group, 33+/-3.6 seconds (P<0.01). Mucosal trauma was more frequent with the ILMA (eight of 30) compared with the laryngoscopy group (three of 30) (P<0.01). The postoperative complications were comparable. In terms of minimising increases in intra-ocular pressure and blood pressure, we conclude that the ILMA has an advantage over direct laryngoscopy for tracheal intubation.     

Comparison of outcomes in elective partial vs radical nephrectomy for clear cell renal cell carcinoma of 4-7 cm

OBJECTIVE: To compare the outcomes of patients who had a elective partial nephrectomy (PN) or radical nephrectomy (RN) for clear cell renal cell carcinoma (RCC) of 4-7 cm. PATIENTS AND METHODS: From March 1998 to July 2004, 45 and 151 patients underwent PN and RN, respectively, for clear cell RCC. A multivariate Cox model was constructed for disease-free survival with adjustment for markers of disease severity, and a propensity-score approach used as a confirmatory analysis. RESULTS: In the PN and RN cohorts the treatment failed in one and 20 patients, respectively; the median follow-up was 21 months. The hazard ratio (95% confidence interval) for PN after adjusting for disease severity was 0.36 (0.05-2.82; P = 0.3). Using planned PN as a predictor (intent-to-treat analysis) the hazard ratio was 1.06 (0.32-3.53; P = 0.9). In the propensity-score model, planned PN was associated with a hazard ratio of 1.75 (0.50-6.14; P = 0.4). The serum creatinine level 3 months after surgery was significantly lower in patients who had PN, with a difference between the means of 0.36 (0.23-0.48; P < 0.001). CONCLUSIONS: Renal function was preserved after PN for 4-7 cm clear cell RCC tumours. When comparing the outcomes of PN and RN it is important to consider the intended operation as an independent variable. There was no clear evidence that PN was associated with worse cancer control, although a continued follow-up of this and other cohorts is warranted.     

Effects of correction of metabolic acidosis on blood urea and bone metabolism in patients with mild to moderate chronic kidney disease: a prospective randomized single blind controlled trial

BACKGROUND: There are no controlled trials on the efficacy of oral bicarbonate therapy in patients with mild to moderate chronic kidney disease (CKD). This prospective randomized controlled study was done to evaluate the effects of correction of metabolic acidosis on renal functions and bone metabolism in this group of patients. PATIENTS AND METHODS: Forty patients were randomized to treatment with oral bicarbonate or placebo for a period of 3 months. Investigations at baseline included venous pH, bicarbonate, renal functions, serum iPTH, and bone radiology. The treatment group (Group B) received daily oral sodium bicarbonate therapy at a dose of 1.2 mEq/kg of body weight. Their venous blood pH and bicarbonate levels were estimated weekly to keep blood pH near 7.36 and bicarbonate at 22-26 mEq/L by adjusting the dose of sodium bicarbonate. At the end of 3 months, all the tests were repeated in both groups. RESULTS: After oral bicarbonate therapy (OBT), there was a significant decline in the rise of blood urea level in Group B associated with a sense of well-being in 50% patients. The rise in parathormone (PTH) was six times the baseline value in Group A and only 1.5 times baseline value in Group B, although not statistically significant. There was no significant change in total calcium, phosphorus, alkaline phosphatase, creatinine, total protein, or albumin levels. CONCLUSION: Correction of metabolic acidosis in patients with moderate CKD attenuates the rise in blood urea and PTH, which might prevent the deleterious long-term consequences of secondary hyperparathyroidism.     

Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa

Background: To determine the role of rhodopsin (RHO) gene mutations in patients with sector retinitis pigmentosa (RP) from Northern Ireland.

Design: A case series of sector RP in a tertiary ocular genetics clinic.

Participants: Four patients with sector RP were recruited from the Royal Victoria Hospital (Belfast, Northern Ireland) and Altnagelvin Hospital (Londonderry, Northern Ireland) following informed consent.

Methods: The diagnosis of sector RP was based on clinical examination, International Society for Clinical Electrophysiology of Vision (ISCEV) standard electrophysiology, and visual field analysis. DNA was extracted from peripheral blood leucocytes and the coding regions and adjacent flanking intronic sequences of the RHO gene were polymerase chain reaction (PCR) amplified and cycle sequenced.

Main Outcome Measure: Rhodopsin mutational status.

Results: A heterozygous missense mutation in RHO (c.173C?>?T) resulting in a non-conservative substitution of threonine to methionine (p. Thr58Met) was identified in one patient and was absent from 360 control individuals. This non-conservative substitution (p.Thr58Met) replaces a highly evolutionary conserved polar hydrophilic threonine residue with a non-polar hydrophobic methionine residue at position 58 near the cytoplasmic border of helix A of RHO.

Conclusions: The study identified a RHO gene mutation (p.Thr58Met) not previously reported in RP in a patient with sector RP. These findings outline the phenotypic variability associated with RHO mutations. It has been proposed that the regional effects of RHO mutations are likely to result from interplay between mutant alleles and other genetic, epigenetic and environmental factors.     

The dystrophin gene and cognitive function in the general population

The aim of our study is to investigate whether single-nucleotide dystrophin gene (DMD) variants associate with variability in cognitive functions in healthy populations. The study included 1240 participants from the Erasmus Rucphen family (ERF) study and 1464 individuals from the Rotterdam Study (RS). The participants whose exomes were sequenced and who were assessed for various cognitive traits were included in the analysis. To determine the association between DMD variants and cognitive ability, linear (mixed) modeling with adjustment for age, sex and education was used. Moreover, Sequence Kernel Association Test (SKAT) was used to test the overall association of the rare genetic variants present in the DMD with cognitive traits. Although no DMD variant surpassed the prespecified significance threshold (P<1 × 10⁻⁴), rs147546024:A>G showed strong association (β=1.786, P-value=2.56 × 10⁻⁴) with block-design test in the ERF study, while another variant rs1800273:G>A showed suggestive association (β=−0.465, P-value=0.002) with Mini-Mental State Examination test in the RS. Both variants are highly conserved, although rs147546024:A>G is an intronic variant, whereas rs1800273:G>A is a missense variant in the DMD which has a predicted damaging effect on the protein. Further gene-based analysis of DMD revealed suggestive association (P-values=0.087 and 0.074) with general cognitive ability in both cohorts. In conclusion, both single variant and gene-based analyses suggest the existence of variants in the DMD which may affect cognitive functioning in the general populations.     

Hyperammonemic coma in a post-partum patient with undiagnosed urea cycle defect

Urea cycle disorders (UCD) are common during neonatal period, and it is rarely reported in adults. We are reporting a patient presenting with post-partum neuropsychiatric symptoms rapidly progressing to coma. Markedly raised serum ammonia level on presentation with an initial normal magnetic resonance imaging (MRI) of brain and normal liver function tests led to the suspicion of UCD, which was confirmed on the basis of urine orotic acid and elevated serum amino acid levels. We had to resort to hemodialysis to correct the hyperammonemic coma, which was unresponsive to conventional anti-ammonia measures. She exhibited remarkable improvement with a progressive decline in serum ammonia with repeated hemodialysis and made a full recovery. Timely diagnosis and early institution of hemodialysis in the setting of a poor neurological status maybe considered a suitable treatment option.