Tight nuchal cord and neonatal hypovolaemic shock.

Two neonates who went into acute hypovolaemic shock due to a tight nuchal cord were successfully resuscitated. The occurrence of this life threatening complication in two low risk pregnancies emphasises the importance of having staff trained in resuscitation immediately available in the delivery unit.     

Haemophilus ducreyi infection in south Florida: a rare disease on the rise?

Increased numbers of patients with genital ulcers sought medical attention in the Palm Beach County, Florida, Sexually Transmitted Disease clinics from Aug 1, 1982 to Aug 31, 1983. We established that a small proportion of subsequent cases of genital ulcers were caused by Haemophilus ducreyi, the etiologic agent associated with chancroid. We also set up a surveillance system to monitor this sexually transmitted infection, and have illuminated several recent cases of chancroid occurring in that area. This outbreak of chancroid suggest that clinicians practicing in south Florida consider chancroid (generally a rare disease in the United States) in their differential diagnoses of genital ulcers.     

Pseudotumor formation in polytetrafluoroethylene-dialysis fistulae

We report two patients with formation of pseudotumors along a polytetrafluoroethylene (PTFE) graft used for dialysis access in chronic fistulae. We postulate a relationship with seroma formation, a known complication of PTFE vascular grafts used for dialysis purposes, possibly through lipolysis of the surrounding fat by a protein-rich exudate.     

Local cerebral glucose utilization during intracerebral pH changes

The effect of ventriculocisternal perfusion with mock CSF with alkaline or acidic pH on the local CMRglu (LCMRglu) in the caudatoputamen was studied in artificially ventilated and relaxed rats. In control rats both lateral cerebral ventricles were perfused with mock CSF at pH 7.4. In the experimental series one cerebral ventricle was infused with normal mock CSF while the other was infused with mock CSF in which the pH was decreased or increased by changing [HCO-3]. LCMRglu was depressed in acidotic brain tissue while it was strongly increased in alkalotic brain tissue. The importance of these alterations in brain glucose metabolism for the homeostatic regulation of brain pH is discussed.     

Comparison of physiological responses to maximal arm exercise among able-bodied, paraplegics and quadriplegics

A comparison of pulmonary, cardiovascular and metabolic responses was made in 32 subjects consisting of 11 able-bodied, 8 paraplegics (T4-L3 lesions) and 13 quadriplegics (C5-C8 lesions) during maximal arm cranking exercise. A progressive continuous arm cranking test, modified for each group, was employed to elicit maximal responses with pulmonary and metabolic determinations made with open circuit spirometry and selected cardiovascular measurements made by impedance cardiography. Additionally, non-exercise static and dynamic lung function assessments were made. Quadriplegics had significantly lower (p less than 0.05) tidal volumes, vital capacities, forced expiratory volumes at 1 seconds, and maximal breathing capacities than the other two groups. The mean peak VO2 during maximal arm cranking was 28.2, 25.3 and 12.0 ml/kg.min for the able-bodied (AB), paraplegics (PP) and quadriplegics (QP), respectively. Furthermore, reduced cardiovascular function was observed in the QP as evident in the low peak HR (109 b/min), peak SV (52 ml/b) and peak Q (5.7 l/min). Values for the QP were 64% and 64% peak HR, 89% and 50% peak SV and 54% and 33% peak Q of values observed for the PP and AB groups, respectively. The peak SV and Q values were significantly lower (P less than 0.05) for the PP group when compared with the AB group. Although not statistically significant the estimated a-v O2 difference was higher for both spinal cord injured groups (14.0 and 14.6 ml O2/100 ml, PP and QP respectively). The impaired work capacity and reduced oxygen transport and utilisation of the QP group can be attributed to impaired sympathetic cardiac stimulation and a smaller available active muscle mass.     

More than 10 years registration of continuing medical education as part of quality control by The Netherlands Society for Oto‐Rhino‐Laryngology and Cervico‐Facial Surgery

More than 10 years registration of continuing medical education as part of quality control by The Netherlands Society for Oto‐Rhino‐Laryngology and Cervico‐Facial Surgery After more than 10 years registration, 93% of ENT specialists in The Netherlands fulfil the requirements for continuing medical education in spite of the fact that sanctions (no re‐registration) have not been implemented to date. Improvements have been made over the years. Information about how to set up a comparable system was supplied to 10 other scientific societies. A recurrent point for discussion is whether or not to award points for presentations, papers and (co)publications. On the one hand, it seems reasonable to reward the effort but, on the other hand, it creates practical problems. As a matter of fact, all members who give papers and write articles appear to attend more than enough postgraduate education. The process of accurate registration of continuing medical education, including accreditation and certification, is time‐consuming. Moreover, it requires intensive and essential supervision by an experienced colleague who has a thorough knowledge of the specialist field.     

Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle's Disease

We report on 8 Dutch patients with McArdle's disease from 6 unrelated families. Molecular analysis revealed the presence of four previously described mutations: the common R49X mutation, the IVS14+1G>A mutation and the recently reported R269X and Y84X nonsense mutations; and two new molecular defects: a missense mutation R138W in the homozygous state in two siblings, and a frameshift mutation c.1797delT. This first genetic study of patients from The Netherlands with McArdle's disease confirms that the R49X mutation is also the most common in Dutch patients, and that there is genetic heterogeneity within this population. Moreover, our data support the hypothesis that the Y84X mutation is a relatively frequent mutation in McArdle's patients with a Central European background, and expand the already crowded map of mutations within the PYGM gene responsible for McArdle's disease.     

Familial amyloidotic polyneuropathy: long-term follow-up of abdominal fat tissue aspirate in patients with and without liver transplantation.

To estimate the evolution of amyloid in tissue, we studied abdominal fat aspirates of cases with familial amyloidotic polyneuropathy (FAP) longitudinally at regular intervals between 1994 and 2006. In 22 cases (13 carriers and nine patients) not yet transplanted median follow-up was 3.3 years (range 0.4-11.3). We found a significant increase in the amyloid grade of fat tissue from 2+ to 4+ and from 0 to 4+ in two of three subjects with follow-ups of >7 years, after 7 and 11 years, respectively. All other subjects remained negative or did not show a significant change. In 11 liver transplant patients, follow-up with fat aspirate was available with a median duration of 3.1 years (range 1.0-10.1). A comparison was made with cardiac amyloid as judged by the cardiac septum diameter and the serum NT-ProBNP (N-terminal pro-B-type natriuretic peptide) level. No stable increase of amyloid in fat was seen in any patient. A stable decrease of amyloid grade was seen in one patient 5 years after transplantation. In contrast, the cardiac septum diameter increased >or=4 mm in six of the 11 transplant patients. Our study shows the diagnostic utility of a regularly repeated fat aspirate in carriers at risk for the development of ATTR amyloidosis. Evolution of amyloid deposition in fat tissue is very gradual. After liver transplantation, amyloid deposition in fat tissue seems to stabilize and may even decrease in the long term, whereas amyloid deposition in cardiac tissue appears to be progressive.