Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.

Complete complement component 6 deficiency (C6Q0) is a co-dominant genetic disease presenting as increased susceptibility to invasive Neisseria meningitidis infections. Affected individuals have two affected alleles which can be homozygous or compound heterozygous for the particular gene defects they carry. This disorder has been diagnosed relatively frequently in Western Cape South Africans. Affected patients are prescribed penicillin prophylaxis. In 2004 we commenced a clinical follow-up study of 46 patients. Of these, 43 had family age-matched C6 sufficient controls. Participants were classified as either (i) well, or (ii) having a serious illness (SI) or died (D). An SI was a long-term illness that did not allow the performance of normal daily activities. Among 43 patients, 21 were well and 22 were SI/D, while among 43 matched controls, 35 were well and eight were SI/D. This difference is highly significant. Among all 46 C6Q0 patients, those who had had recurrent infection had significantly more SI/D than those who had suffered none or one infection. Thus, this work demonstrates the long-term serious outcome of repeated meningococcal disease (MD) episodes. We investigated the frequencies of four C6Q0 pathogenic mutations known to affect Cape patients (828delG, 1138delC, 821delA and 1879delG) in 2250 newborns. A total of 103 defective alleles (2·28%) and three affected C6Q0 individuals were detected. For all defects combined, 5·24 affected subjects (C6Q0) are expected among 10,000 individuals. What is still unknown is the number of C6Q0 individuals who suffer MD or other infectious diseases.

Prospective assessment of function and cold-intolerance following revascularization for hypothenar hammer syndrome.

Ulnar artery revascularization in hypothenar hammer syndrome has repeatedly been shown to reduce ischaemic symptoms, however with varying graft patency percentages. This study prospectively assesses the effect of revascularization surgery with a vein graft using validated questionnaires in seven patients. The Disabilities of the Arm, Shoulder and Hand (DASH) and the Cold Intolerance Symptom Severity (CISS) questionnaires have been used to compare the preoperative and postoperative functionality and cold intolerance. All patients showed improvement in either functionality, or cold intolerance, or both from disabled to nearly normalized levels and resumed their occupation at final follow-up (mean of 28 months). Strikingly this was also the case in a patient with graft stenosis. Patients with the highest preoperative questionnaire scores showed most postoperative improvement. In conclusion, revascularization surgery seems to improve the symptomatology irrespective of graft patency. Questionnaires can be a valuable contribution to quantify and to follow the symptomatology in hypothenar hammer syndrome.

Possible complications of subclavian crush syndrome.

A 70-year-old woman with symptomatic Mobitz type II atrioventricular block underwent implantation of a dual-chamber pacemaker 11 years ago. The leads were inserted through a percutaneous puncture of the right subclavian vein, using standard techniques. Both leads were passive fixation leads. Due to battery failure and end of life criteria, the pulse generator (PG) had been routinely replaced six years previously. Predischarge pacemaker control revealed normal pacing, sensing thresholds and impedance for both leads. Because of a syncopal attack subsequent to lead fractures, most likely secondary to right subclavian crush syndrome (SCS) of both leads, she underwent a double lead re-implantation one year after PG replacement by access via left subclavian vein puncture. After a symptom-free period of few years she was re-analysed because of palpitations, dizziness, angina pectoris and tiredness. Pulmonary embolisation and myocardial perfusion defects were detected utilising scintigraphic techniques. Chest X-ray revealed the crushed atrial lead dislocated from the right subclavian region and lodged into the right ventricle towards the inferior septum. Because she was symptomatic, a retrieval technique was applied and the crushed atrial lead was pulled back from the right ventricle and securely fixed to its former position. On maintenance medical treatment, she remains well.

Failure of subclavian venepuncture: the internal jugular vein as a useful alternative.

After several attempts, temporary and permanent pacing for post-infarction symptomatic tachybradyarrhythmias, was finally achieved via the left internal jugular vein. Failure of bilateral subclavian venepuncture was experienced by two different operators. Partial right-sided pneumothorax developed following several attempts of subclavian puncture, and it resolved spontaneously. Upper extremity contrast venography revealed signs compatible with antecedent thrombotic disease of unknown etiology. Antiarrhythmic drug therapy was safely and successfully instituted.

Left renal vein compression syndrome ("nutcracker phenomenon").

Four cases are presented with clinical diagnosis of scrotal varicocele on the left side, and one case with ureter varices and left-sided haematuria as a result of compression of the left renal vein between the aorta and superior mesenteric artery (SMA), also known as "nutcracker phenomenon". The clinical signs and the radiological diagnostic methods of the condition are discussed.

Percutaneous transvenous retrieval of intracardiac port-a-cath catheter fragment: a case report.

A female patient, 36 years of age, with a metastasised left breast cancer received several courses of chemotherapy for aggressive local tumour growth and multiple metastatic activity. In the current patient, surgical ablation of the left breast was carried out. Also loco-regional radio-therapy was conducted. To facilitate the administration of chemotherapy courses and prevent thrombophlebitis a vascular access port (port-a-cath) was surgically inserted via the right subclavian vein. After a few successful administrations of chemotherapeutic drugs the vascular port stopped functioning. It was demonstrated that a detached catheter fragment had dislodged into the right ventricle. Successful percutaneous, transvenous removal of the entrapped catheter fragment by the Gooseneck retrieval loop snare from the right ventricle was performed via the right femoral vein access. The procedure was uncomplicated and the patient tolerated the procedure well.

Clinical and diagnostic features of partially anomalous pulmonary venous connection in an adult female patient: a case report and review of the literature.

A 40-year-old woman presented with dyspnoea, chest pain and fatigue. Her medical history was unremarkable. An early systolic ejection murmur was heard in the 3D left inter-costal space. Chest X-ray revealed normal cardiothoracic ratio with an anomalous vessel adjacent to the left pulmonary hilum. Echocardiography and exercise tolerance test were normal. Right heart catheterisation revealed normal pulmonary pressures with normal cardiac output. CT scan and MRI of the thorax were diagnostic for an aberrant pulmonary venous connection between the left lower lobe pulmonary vein and the left brachiocephalic vein without atrial septal defect. She was treated conservatively and remained well.

Anorectal function: defecographic measurement in asymptomatic subjects.

A study of anorectal function during fluoroscopically monitored defecation was conducted in 32 asymptomatic subjects. Two observers independently measured various parameters on defecograms and reviewed video recordings during the subjects' squeezing, rest, and straining. There was a wide range of measurements for the anorectal angle, the position of the anorectal junction, perineal motility, and anal canal width. Interobserver variation of these measurements was large. In 17 subjects, both observers agreed that rectal emptying was incomplete. In 10 patients, there was agreement on the presence of rectal wall changes such as intussusception, rectocele, and mucosal prolapse. Defecographic measurements should be interpreted with caution and should not be used as the only criteria for treatment. Anatomic changes of the anorectal region during straining at defecation do not necessarily cause symptoms but may be a precursor of clinical disorders. Defecography is useful in the detection of these abnormalities.

Tracheocele: a rare cause of difficult endotracheal intubation and subsequent pneumomediastinum.

A case is described in which accidental perforation of a tracheocele caused by endotracheal intubation resulted in a postoperative pneumomediastinum. The tracheocele, an extremely rare finding in clinical anaesthesia, was confirmed radiologically and for the first time demonstrated by computed tomography.