Reply to 'Reciprocal translocation carriers ascertained for recurrent miscarriage have a possibility to yield an unbalanced fetal chromosome pattern'

Sir, We thank Mayumi Sugiura-Ogasawara et al. for their commentson our paper (Goddijn et al., 2004     

Application of Piagetian measures of cognition in severe Alzheimer's disease

Conventional psychometric measures uniformly yield zero or near zero scores (i.e., "bottom-out") as patients with Alzheimer's disease (AD) progress to the more severe stages of the illness. Consequently, there are no psychometric measures which objectively assess the mental abilities of AD patients with very severe cognitive impairment. We explored the hypothesis that mental function in AD patients with very severe cognitive impairment can be effectively assessed using test measures developed to assess the earliest stage of cognitive development as proposed by Piaget. We also investigated the relationship between decline on these experimental cognitive measures and progressive functional disability in patients with severe cognitive impairment. The results indicate that modified instruments derived from measures developed to assess Piaget's sensorimotor stage of cognitive development provide useful information about the cognitive abilities of very severely impaired AD patients. These modified instruments provide a measure of cognition in these extremely impaired patients that has acceptable validity and demonstrable reliability.     

Development of weakness in patients with chronic inflammatory demyelinating polyneuropathy and only sensory symptoms at presentation: A long-term follow-up study

This long-term follow-up study examined patients with chronic inflammatory demyelinating polyneuropathy (CIDP) and only sensory symptoms at first presentation, with emphasis on the development of motor symptoms and long-term disability. From all CIDP patients referred to our Department between 1987 and 1995, seven had only sensory symptoms at first clinical presentation. These were investigated according to a standard protocol, including a quantified clinical neurological examination and nerve conduction studies. The mean duration of the disease before weakness developed was 3.1 years, but varied considerably (0.8–6.3 years). At follow-up, weakness developed in five patients and persisted in three of them. Five patients were not seriously incapacitated by their disease (Rankin 1 or 2), four of them being in remission now and one showing a very slow progression of disease. Two patients were moderately disabled (Rankin 3); one had severe persistent sensory ataxia and only weakness during relapses and one had stepwise progression and moderate weakness. Motor nerve conduction studies revealed that the most notable worsening in the entire group of patients was a decrease in distal compound muscle action potential amplitudes, indicating the development of distal conduction block or axonal degeneration. These findings show that CIDP with only sensory symptoms is a transient clinical stage that precedes the appearance of weakness in about 70% of patients. The long-term prognosis does not differ from that of patients with CIDP who have weakness at the beginning of the disease. Received: 3 December 1998 Received in revised form: 17 May 1999 Accepted: 2 July 1999     

Nerve conduction studies in polyneuropathy: practical physiology and patterns of abnormality

Nerve conduction studies are an essential part of the work-up of peripheral neuropathies. Many neuropathic syndromes can be suspected on clinical grounds, but optimal use of nerve conduction study techniques (in combination with needle electromyography) allows diagnostic classification and is therefore crucial to understanding and separation of neuropathies. Multifocal motor neuropathy, for example, may clinically present as ALS. Detection of evidence of demyelination (conduction blocks) leads to the correct diagnosis and to proper treatment. Nerve conduction studies provide essential information on (1) the spatial pattern of neuropathy, (2) the pattern of abnormalities distinguishing between primarily axonal and demyelinating pathology, and (3) the severity of neuropathic damage. This information is very comprehensive since many nerves and long segments of individual nerves can be sampled. Moreover the information is extremely detailed to the extent that the cellular pathology of a patient's neuropathy is usually defined best by physiological testing rather than by biopsy. Neuropathies can be generalized, focal, or multifocal; they can be symmetric or asymmetric; they can be distally predominant or proximal and distal. Primarily axonal neuropathies mainly affect sensory nerve and compound muscle action potential amplitudes, whereas demyelinating neuropathies lead to slowing of nerve conductions, and to increased temporal dispersion or conduction block. Usually, the pattern of demyelination allows to distinguish hereditary (uniform demyelination) from acquired (segmental demyelination) neuropathies. Electrodiagnostic criteria for primary demyelination are helpful to identify acquired demyelinating neuropathies.     

Surgical resection of a sphenoid wing meningioma in a patient with Glanzmann thrombasthenia

Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder characterized by a deficiency or functional defect of platelet glycoprotein (GP) IIb/IIIa. Physiologically, this platelet receptor mediates aggregation of activated platelets by binding the adhesive proteins, fibrinogen, von Willebrand factor (VWF) and fibronectin. This facilitates attachment and aggregation of platelets at sites of vascular injury. We reported the management of a pterional meningioma resection in a patient with Glanzmann thrombasthenia, with recombinant factor VIIa (rFVIIa - NovoSeven) as haemostatic agent. A 48-year-old woman suffering from Glanzmann thrombasthenia was scheduled for spheno-orbital meningioma en plaque surgery. Because of repeated platelet transfusions, this patient developed isoantibodies against missing GPIIbIIIa and alloantibodies against Human Leukocyte Antigen (HLA) leading to refractoriness to platelet transfusions. We observed that Novoseven offered sufficient haemostasis conditions. Therefore, we noticed a deep vein thrombosis. This imposed us to use low weight molecular heparin despite recent surgery.     

Treatment of myofascial trigger points in common shoulder disorders by physical therapy: A randomized controlled trial [ISRCTN75722066]

Background  

Shoulder disorders are a common health problem in western societies. Several treatment protocols have been developed for the clinical management of persons with shoulder pain. However available evidence does not support any protocol as being superior over others. Systematic reviews provide some evidence that certain physical therapy interventions (i.e. supervised exercises and mobilisation) are effective in particular shoulder disorders (i.e. rotator cuff disorders, mixed shoulder disorders and adhesive capsulitis), but there is an ongoing need for high quality trials of physical therapy interventions. Usually, physical therapy consists of active exercises intended to strengthen the shoulder muscles as stabilizers of the glenohumeral joint or perform mobilisations to improve restricted mobility of the glenohumeral or adjacent joints (shoulder girdle). It is generally accepted that a-traumatic shoulder problems are the result of impingement of the subacromial structures, such as the bursa or rotator cuff tendons. Myofascial trigger points (MTrPs) in shoulder muscles may also lead to a complex of symptoms that are often seen in patients diagnosed with subacromial impingement or rotator cuff tendinopathy. Little is known about the treatment of MTrPs in patients with shoulder disorders.     

Genitourinary Resection at the Time of Cytoreductive Surgery and Heated Intraperitoneal Chemotherapy for Peritoneal Carcinomatosis Is Not Associated with Increased Morbidity or Worsened Oncologic Outcomes: A Case-matched Study

Background

Cytoreductive surgery (CRS) with heated intraperitoneal chemotherapy (HIPEC) has gained acceptance in the treatment of peritoneal carcinomatosis with reported morbidity and mortality rates of 27–56 and 0–11 %, respectively. The safety and oncologic outcome of genitourinary repair at the time of CRS and HIPEC remains unclear.

Methods

We identified 170 patients who underwent CRS-HIPEC at our institution between July 2007 and August 2011 with a minimum follow-up of 6 months. Thirty-four (20 %) underwent concomitant urologic reconstruction at the time of CRS-HIPEC and were matched by disease burden (intraoperative peritoneal cancer index [PCI]) and extent of surgery (ΔPCI) with a cohort of 38 (22.3 %) subjects without genitourinary involvement. The primary end points considered for this analysis included the development of major surgical (Clavien–Dindo Class III–V) complications and overall survival.

Results

Median follow-up was 9.4 months. The most commonly performed urologic interventions included partial cystectomy with primary repair in 23 (65.7 %) and segmental ureteral resection and repair in 11 (31.4 %). Patients with genitourinary reconstruction had more total organ involvement (6.5 vs. 4.3, p < 0.001) and more commonly underwent enteric anastomoses (82.4 vs. 57.9 %, p = 0.025). No significant differences were observed with regard to major morbidity, need for transfusion, operative time, intensive care unit admission, or length of stay. Among patients with appendiceal or colonic tumors (n = 46), overall survival was similar between genitourinary reconstruction and matched cohorts: 22.5 versus 15.1 months, respectively (p = 0.66).

Conclusions

Genitourinary reconstruction at the time of CRS-HIPEC occurs more commonly in patients with extensive disease burden undergoing radical debulking, yet does not adversely influence surgical morbidity or survival.     

Similarities in Skeletal Muscle Strength and Exercise Capacity Between Renal Transplant and Hemodialysis Patients

Exercise intolerance is common in hemodialysis (HD) and renal transplant (RTx) patients. Aim of the study was to assess to what extent exercise capacity and skeletal muscle strength of RTx patients differ from HD patients and healthy controls and to elucidate potential determinants of exercise capacity in RTx patients. Exercise capacity, muscle strength, lean body mass (LBM) and physical activity level (PAL) were measured by cycle-ergometry, isokinetic dynamometry, DEXA and Baecke Questionnaire, respectively, in 35 RTx, 16 HD and 21 controls. VO2peak and muscle strength of the RTx patients were significantly lower compared to controls (p<0.01), but not different compared to HD patients. In RTx patients, strength (p<0.001), PAL (p=0.001) and age (p=0.045) were significant predictors of VO2peak. Muscle strength was related to LBM (p=0.001) and age (p=0.001), whereas gender (p<0.001) and renal function (p=0.01) turned out to be significant predictors of LBM. No effects of corticosteroids were observed. Exercise capacity and muscle strength seem equally reduced in RTx and HD patients compared to controls. In RTx patients, muscle strength and PAL are highly related to exercise capacity. Renal function appears to be a significant predictor of LBM, and through the LBM, of muscle strength and exercise capacity.     

Elucidating the mechanism behind the laccase-mediated modification of poly(ethersulfone)

Laccase-mediated oligomerisation of 4-hydroxybenzoic acid (4-HBA) derivatives and simultaneous in situ surface modification has proven to be a cost-effective, easily applicable and eco-friendly strategy for preventing biofouling of poly(ethersulfone) (PES) water filtration membranes. Modification of the membrane surface has previously been hypothesised to occur through covalent bonding of enzymatically generated phenolic radicals to the polymeric membrane. The current study shows, however, that in situ formation of soluble phenolic oligomers does not result in covalent membrane modification. We studied in situ laccase-mediated oligomerisation of custom-synthesised positively charged and commercially available negatively charged monomeric phenols, and demonstrated that their mode of binding to PES is not covalent. In addition, soluble, non-soluble and on-resin PES model compounds were synthesised and used in the laccase-mediated oligomerisation of 4-HBA. Covalent bond formation between these model compounds and (oligomeric) 4-HBA could not be observed either. Furthermore, extensive washing of PES membranes modified through laccase-mediated oligomerisation of 4-HBA resulted in substantial discolouration of the membrane surface, showing that the layer of oligomerised phenolics could easily be removed. Altogether, it was concluded that laccase-assisted modification of PES membranes resulted from strong physical adsorption of phenolic oligomers and polymers rather than from covalent bonding of those.

The mechanism behind the laccase-mediated functionalisation of poly(ethersulfone) was studied using a multifaceted approach, which revealed that surface modification had occurred through strong physical adsorption, rather than through grafting of phenolic oligomers.