Increased occurrence of free immunoglobulin light chains in cerebrospinal fluid and serum in human immunodeficiency virus-1 infection

The presence of free immunoglobulin light chains (FLCs) in the cerebrospinal fluid (CSF) and sera of patients with human immunodeficiency virus-1 (HIV-1) infection, multiple sclerosis (MS), and neurologically healthy control individuals was investigated by paying special attention to ensure that only truly free light chains would be detected. The FLCs were extracted by specifically binding them to Sepharose-coupled anti-FLC monoclonal antibodies, and thereafter they were electrophoresed and immunoblotted with monoclonal antibodies to both light chain (LC) isotypes. A frequent occurrence of kappa and lambda FLCs was found in both CSF and sera of HIV-1 infected patients. In HIV-1 infection and in MS, the frequency of FLCs of the CSF was equal. In healthy controls, only occasional weak FLCs were observed in either CSF or serum. FLC bands of the CSF from patients with HIV-1 infection tended to be more intensive than those of the appropriately diluted sera. Both intrathecal synthesis of FLCs and their transudation from sera through the impaired blood-brain barrier (BBB) may contribute to this. Increasing severity of general HIV-1 infection was accompanied by an increase of FLC intensity in sera. A qualitative demonstration of FLC in the CSF may be meaningful only in the absence of altered BBB function.     

Peripheral nerve injury and Raynaud's syndrome following electric shock

A truck driver was injured by a high-voltage line of 10,000 volts when holding a metallic bar in both hands. Initially no neurological abnormalities were found, but during the following few weeks increasing sensory and minor motor symptoms developed in the right upper extremity. After one year numbness of the right thigh and leg appeared, as well as attacks of white finger in both hands. Repeated examinations showed progressive abnormalities of the median and ulnar nerves in both hands. No other cause for Raynaud's syndrome was discovered. The late high-voltage effects, presumably indirect, are suggested to be of multifactorial etiology.     

Image quality in radiography of midfacial trauma

Image quality in radiography of midfacial trauma was studied in 618 patients treated for midfacial injury. The visibility of key anatomic areas was related to essential technical factors influencing image quality as well as to the radiologic diagnostic performance. Regression analysis revealed that the visibility of the key anatomic areas was significantly dependent on the technical factors. However, the radiologic diagnostic performance was not significantly dependent on the visibility of the key anatomic areas. The results indicate that image quality was not a limiting factor for radiologic diagnostic performance in midfacial trauma.     

Disc herniation in the lumbar spine during growth: Long-term results of operative treatment in 18 patients

We studied 18 patients who had undergone surgery for herniated lumbar discs between the ages of 11 and 17 years. The inclusion criteria for girls was an age of 15 years or below and for boys 17 or below at surgery. The mean follow-up time was 10 years and the clinical outcome was good. Age at surgery and length of the follow-up had no effect on the result. The radiological disc height at follow-up did not correlate with the follow-up time or age of the patient at operation. MRI scans at follow-up from ten patients operated at less than 15 years of age revealed multilevel disc degeneration but favourable clinical results.     

Intracranial plasmacytoma: a case report

Multiple myeloma may have extraosseous manifestations in the cranial region. It may be a solitary intracranial tumour without any other signs of multiple myeloma, or intracranial disease may be a part of generalised disease, as in the present case. Our patient had received chemotherapy for multiple myeloma for 9 months, with good response. However, her condition suddenly deteriorated, with signs of increased intracranial pressure and a 5-cm-diameter tumour infiltrating the meninges and brain was found in the left temporal fossa. The radiological diagnosis, based on contrast-enhanced CT and angiography, was not straightforward or specific for plasmacytoma, as chemotherapy for the extracranial disease had been successful. Diseases such as meningioma, metastasis, lymphoma, chondrosarcoma or haemangioma had to be considered. Received: 1 November 1994 Accepted: 31 August 1995     

Superior mesenteric artery syndrome. A follow-up study of 16 operated patients

A series of 18 patients underwent surgery for upper abdominal symptoms and signs of superior mesenteric artery syndrome (SMAS). The diagnosis was made by simultaneous arteriography and barium meal. Findings at operation confirmed SMAS in every patient, and a duodenojejunostomy was performed. Duodenal and jejunal wall biopsy from 13 patients revealed normal myenteric and submucous plexuses. A follow-up study of 16 patients was performed after 7 years. At follow-up, the weight loss seen preoperatively had been corrected. However, symptoms were essentially similar to those found at the original examination. Only the frequency of the most distressing symptom, vomiting, was significantly decreased (p less than 0.05). The most striking features in the production of the "pincher mechanism" of the duodenum were found to be a short aortomesenteric distance together with sagittal parallelism between aorta and superior mesenteric artery. In conclusion, we recommend a conservative attitude in the treatment of SMAS. Surgical treatment with duodenojejunostomy may be indicated only if vomiting is a predominant symptom and proper conservative treatment has failed.     

Type C botulism due to toxic feed affecting 52,000 farmed foxes and minks in Finland

The largest reported outbreak of type C botulism in fur production animals is described. Epidemiological investigation of 117 out of 157 (response rate, 74.5%) farms revealed that 44,130 animals died or were euthanized, while 8,033 animals with milder symptoms recovered. The overall death rate in all animals at risk was 21.7%. The death rates were significantly higher in blue and shadow foxes (24.2 and 27.8%, respectively) than in silver and blue silver foxes and minks (below 4%). All minks had been immunized against botulinum toxin type C. Deaths were associated with feed manufactured by a local processor, 83 of whose customer farms (70.9%) reported dead or sick animals. Five feedlots out of 19 delivered to the farms on the day preceding the onset of the outbreak (day 2) were associated with a death rate higher than 40%. These feedlots consisted of fresh feed processed on day 2 and feed processed 1 day earlier (day 1). In laboratory analysis, the day 2 feed contained botulinum toxin type C (>600 minimum lethal doses/g), while the day 1 feed did not contain toxin. Toxin was not detected in feed raw-material samples. Clostridium botulinum type C was detected by PCR in some feed components and in feed. However, as the feed temperature was continuously 8 degrees C or below and the pH was continuously 5.6 or below according to the manufacturer, it seems unlikely that spore germination and toxin formation occurred during overnight storage. Hence, the events leading to toxin formation were not determined.     

A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics

BACKGROUND: Inactivating mutations of the FSH receptor (FSHR) are a rare cause of hypergonadotrophic hypogonadism in women. Only one patient with primary amenorrhoea due to an FSHR gene mutation has been reported outside of Finland, where the prevalence of Ala189Val mutations is particularly high. METHODS AND RESULTS: Here, we describe the clinical, molecular genetic and functional characteristics associated with a novel inactivating mutation in exon 10 of the FSHR gene identified in a patient who presented with primary amenorrhoea at 17 years of age. The C to G transversion found at nucleotide 1043 causes a Pro348Arg substitution in the extracellular region of the FSHR and results in a mutant FSHR that is completely inactive in functional studies and that does not bind FSH. The proband exhibits apparent homozygosity for this recessive mutation. Her father is heterozygous for the mutation while analysis of exon 10 of the FSHR gene from her mother revealed only wild-type sequence. Chromosome painting was used to exclude deletions or rearrangements of 2p, and microsatellite markers did not show paternal uniparental isodisomy for this region. These findings suggest that the proband is hemizygous, with an inherited or de-novo microdeletion, or alternatively a de-novo gene conversion, of the accompanying FSHR allele. CONCLUSIONS: This case confirms the importance of the FSHR in female pubertal development and reproduction, and supports a relationship between phenotype and function for FSHR mutations.