Frontotemporal dementia and parkinsonism linked to chromosome 17 with the N279K tau mutation

We present a case of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) harboring the N279K mutation in the MAPT gene from the family known as pallido‐ponto‐nigral degeneration (PPND). This 49‐year‐old man was followed for 17 years. He presented at age 41 years with left leg stiffness and en‐bloc turning. During the course of his illness he developed a constellation of symptoms including parkinsonism, pyramidal signs, vertical gaze palsy, dysphagia, dystonia, personality and cognitive dysfunction, weight loss and mutism. Gross neuropathological examination showed mild atrophy of the cerebral cortex, hippocampal formation, amygdala, thalamus, subthalamic nucleus and depigmentation of the substantia nigra. Microscopy revealed neuronal loss and gliosis in the same regions. Tau immunohistochemistry showed pretangles, numerous threads, grain‐like structures and oligodendroglial tau‐positive inclusions (“coiled bodies”). In the spinal cord the tau pathology was more abundant in gray than white matter. Pretangles and threads were present in the anterior and, to a lesser extent, in the posterior horns. FTDP‐17 should be suspected in patients with a history of familial parkinsonism combined with behavioral and cognitive changes, onset before age 65 years and an aggressive clinical course.     

Estimation of gestational age by last menstrual period, by ultrasound scan and by SP1 concentration: comparisons with date of delivery

The date of delivery in 62 normal pregnant women was predicted by last menstrual period, by ultrasound scan and by the serum concentration of Schwangerschaftsprotein 1 (SP1). It was found that SP1 concentration in the first trimester gave as reliable an indication of when labour would occur as did the last menstrual period or ultrasound scan.     

Genetic diversity and molecular identification of mosquito species in the Anopheles maculatus group using the ITS2 region of rDNA.

The species diversity and genetic structure of mosquitoes belonging to the Anopheles maculatus group in Southeast Asia were investigated using the internal transcribed spacer 2 (ITS2) of ribosomal DNA (rDNA). A molecular phylogeny indicates the presence of at least one hitherto unrecognised species. Mosquitoes of chromosomal form K from eastern Thailand have a unique ITS2 sequence that is 3.7% divergent from the next most closely related taxon (An. sawadwongporni) in the group. In the context of negligible intraspecific variation at ITS2, this suggests that chromosomal form K is most probably a distinct species. Although An. maculatus sensu stricto from northern Thailand and southern Thailand/peninsular Malaysia differ from each other in chromosomal banding pattern and vectorial capacity, no intraspecific variation was observed in the ITS2 sequences of this species over this entire geographic area despite an extensive survey. A PCR-based identification method was developed to distinguish five species of the group (An. maculatus, An. dravidicus, An. pseudowillmori, An. sawadwongporni and chromosomal form K) to assist field-based studies in northwestern Thailand. Sequences from 187 mosquitoes (mostly An. maculatus and An. sawadwongporni) revealed no intraspecific variation in specimens from Thailand, Cambodia, mainland China, Malaysia, Taiwan and Vietnam, suggesting that this identification method will be widely applicable in Southeast Asia. The lack of detectable genetic structure also suggests that populations of these species are either connected by gene flow and/or share a recent common history.     

Delineating the sites and progression of in vivo atrophy in multiple system atrophy using fluid-registered MRI.

We describe the pattern and progression of atrophy delineated using fluid registration of serial magnetic resonance imaging scans in a case of multiple system atrophy (MSA). The in vivo findings were consistent with those found at postmortem, including significant supratentorial atrophy concurrent with an unusual degree of cognitive impairment for MSA.     

Benign polyps with prostatic-type epithelium of the urethra and the urinary bladder

The clinico-pathological features of nine urethral and urinary bladder polyps with prostate-type epithelium are described. The average age of the patients was 46 years. Three patients previously had cystoscopy and the lesion was not noticed on the initial examination. The commonest presentation in this series was haematuria, dysuria and frequency of micturition. One patient presented with postmicturition dribble and another with haemospermia. The polyps contained acini and papillae lined by prostate-type epithelium which was confirmed by immunohistochemical tests for prostate specific antigen and prostate acid phosphatase. In this series no age versus location relationship could be established. Symptoms resolved following resection or initial biopsy followed by fulguration. Recurrence is extremely rare.     

The evolution of a biodegradable membrane for use in urological surgery. A summary of 109 in vivo experiments

The evolution of a collagen/vicryl composite membrane designed as a prosthetic material for use in urinary tract surgery is described. The early experiments in which collagen film alone was used to repair experimental ureterotomies are reviewed together with our first experiments with the collagen/vicryl prosthesis in the repair of partial nephrectomies and of full thickness defects created in the urinary bladder of experimental rabbits. These early results led to the preparation of a composite using a more highly purified collagen and employing a method of sterilisation (gamma irradiation) which would be acceptable for regular use in medical products. The results of a further series of partial nephrectomy and full thickness bladder repairs show that irradiation does not compromise the efficacy of the collagen/vicryl composite in vivo.     

Opioid peptides and receptors in joint tissues: study in the rat.

Using immunohistochemical and biochemical techniques, the occurrence of endogenous opioid peptides and their receptors in normal rat bone and joint tissues was investigated. Opioid receptors were detected, quantified, and characterized in homogenates from capsule/synovium and periosteum using radioligand binding assays. Receptor binding of the nonselective opioid [3H]naloxone to tissue homogenates was stereospecific and saturable, showing similar characteristics to that of brain tissue, although with lower binding capacities. By immunohistochemistry, the neuronal occurrence of four different enkephalins was demonstrated in synovium, bone marrow, periosteum, and juxta-articular bone, whereas no neuronal dynorphin immunoreactivity was detected. Double-staining studies disclosed that enkephalins coexisted with substance P in primary afferent fibers. The applied techniques can be used to assess changes in the distribution of endogenous opioids and their receptors in joint tissues in conditions associated with pain and inflammation. The endogenous opioid system now demonstrated might be targeted and exploited therapeutically to obtain peripheral control of symptoms in joint disorders.