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Bacteria contain glycerol phosphate (GroP)-containing glycans, which are important constituents of cell-surface glycopolymers such as the teichoic acids of Gram-positive bacterial cell walls. These glycopolymers comprising GroP play crucial roles in bacterial physiology and virulence. Recently, the first identification of a GroP-containing glycan in mammals was reported as a variant form of O-mannosyl glycan on α-dystroglycan (α-DG). However, the biological significance of such GroP modification remains largely unknown. In this review, we provide an overview of this new discovery of GroP-containing glycan in mammals and then outline the recent progress in elucidating the biosynthetic mechanisms of GroP-containing glycans on α-DG. In addition, we discuss the potential biological role of GroP modification along with the challenges and prospects for further research. The progress in this newly identified glycan modification will provide insights into the phylogenetic implications of glycan.

Background and purpose Fisher syndrome (FS) may overlap with Guillain–Barre syndrome (GBS), in particular the pharyngeal–cervical–brachial variant form (PCB-GBS), or Bickerstaff brainstem encephalitis (BBE). Our aim was to elucidate the frequency of this overlap and the patterns of clinical progression in patients with FS. Methods Sixty consecutive patients with FS were studied. FS/PCB-GBS was diagnosed when the patients developed pharyngeal, cervical and/or brachial weakness. Patients with flaccid tetraparesis were diagnosed as having FS/conventional GBS. FS/BBE was defined as the development of consciousness disturbances. Results All 60 patients initially developed the FS clinical triad alone (pure FS). Of these, 30 (50%) patients had pure FS throughout their course, whereas the remaining 50% of patients showed an overlap: PCB-GBS in 14 (23%) patients, conventional GBS in nine (15%) patients and BBE in seven (12%) patients. The median (range) durations from FS onset to progression to FS/PCB-GBS, FS/GBS or FS/BBE were 5 (1–7), 3 (1–4) and 3 (1–5) days, respectively. Patients with overlap syndromes more frequently received immune-modulating treatment, and the outcomes were generally favourable. The frequencies of positivity for anti-GQ1b, GT1a, GD1a, GD1b, GalNAc-GD1a and GM1 antibodies were not significantly different amongst the four groups. Conclusions Of the patients with pure FS, 50% later developed an overlap with PCB-GBS, conventional GBS or BBE. The overlap occurred within 7 days of FS onset; thus, physicians should pay attention to the possible development of this overlap during the first week after FS onset.

Hairy cell leukemia cell lines expressing annexin A1 and displaying B-cell receptor signals characteristic of primary tumor cells lack the signature BRAF mutation to reveal unrepresentative origins

Gaucher disease occurs mainly as a result of a deficiency of the lysosomal enzyme beta-glucocerebrosidase activity. A rare variant form of Gaucher disease is known in which saposin C required for glucosylceramide degradation is deficient. In an earlier paper we described the first cases of two siblings with the non-neuronopathic form of Gaucher disease caused by saposin C deficiency [Tylki-Szymanska et al., 2007 [1]]. In this article, we present a follow up of clinical and biochemical findings in one patient who has been treated with miglustat for two years. We observed that administration of miglustat failed to exert any favorable effect on the clinical condition, haematological parameters and glucosylceramide level in the serum. In two individuals (described in this article) very slow deterioration of the peripheral and central nervous systems was observed. (C) 2011 Elsevier Inc. All rights reserved

A 17-year-old woman had acute myeloid leukaemia (AML) with a leucocyte count of about 100 times 109/1. The great majority of the leucocytes were immature. About half of them were without granules; in the other half the granules were usually scanty, but occasionally numerous and rather coarse. A few cells had Auer rods arranged in bundles. The patient had uncompensated disseminated intravascular coagulation (DIC) with a severe tendency to bleed. Everything fitted with variant hypergranular promyelocytic leukaemia, except for the staining of 30% of the immature cells by Loffler's unspecific esterase with α-naphthyl acetate. The patient may, therefore, be classified as either a variant of variant form M3, or as a transition between M3 and acute monocytic leukaemia.

SummaryA 67-year-old woman without history of heart disease was admitted with chest oppression. Her electrocardiogram (ECG) at the time of admission showed ST segment elevation in leads V2–V6. Cardiac ultrasound revealed severe hypokinesis in mid to apical portion of anterior wall. Emergent coronary angiography showed normal coronary arteries. Left ventriculography (LVG) revealed akinesis of mid portion of anterior and inferior wall with hyperkinesis of apex and basal portion of anterior and inferior wall. Cardiac ultrasound examination 3 months later revealed improvement in LV contraction without mid-ventricular akisesia. The LVG performed 6 months later showed no focal asynergy. In I-123-beta-metyl-iodophenyl pentadecanoic acid myocardial scintigraphy the discrepancy of uptake between apical and anterior and inferior wall of mid region (more uptake in apex) was reduced. Using I-123-meta-iodobenzyl-guanidine myocardial scintigraphy in acute phase, decreased uptake in the mid portion of anterior and inferior to lateral wall was seen in early and delayed images and that persisted through 6 months. As these findings resembled those of Takotsubo cardiomyopathy other than affected region, it is possible to say that basically they belong to same entity of disease but they are different in their phenotype.

To elucidate the correlation of autoimmune pancreatitis (AIP) and mass-forming pancreatitis, in which a localized mass is formed in the pancreas.Nine cases of mass-forming pancreatitis were divided into two groups, one consisting of cases that met the histological diagnostic criteria for AIP by the Japan Pancreas Society (JPS) and the other consisting of cases which did not. Histological findings, immunohistological findings, and pancreatograms were compared between these groups.Six cases met the histological criteria of JPS (group A) and the other three did not (group B). In the mass-forming portion in group A, the wall of the pancreatic duct showed marked thickening. However, the epithelium was well preserved, and dilatation of the branch ducts or protein plugs were rarely observed. All cases showed marked obliterative phlebitis. The IgG4 labeling index (LI) was 25% or more in all but one case. In the portion other than the mass, the lobular structure was well preserved and the IgG4 LI was less than 10%. The pancreatogram showed localized stenosis or obstruction at the site of the mass associated with a normal-appearing main pancreatic duct in the remaining portion. In group B, histological findings typical of chronic pancreatitis with dilated branch ducts and protein plugs were observed. Obliterative phlebitis was not confirmed. The IgG4 LI in the mass-forming portion was low (2.3%-11.1%).There exists a subgroup of AIP showing localized mass formation and stenosis or obstruction of the main pancreatic duct with prominent obliterative phlebitis associated with a normal ductal segment.

A variant form of subtalar coalition isolated to the posterior sustentaculum has been previously described, though its prevalence is not known and its relationship to the middle facet has not been characterized. To determine the prevalence and morphological alterations of isolated posteromedial subtalar coalitions. Computed tomography (CT) images of the foot or ankle performed from 2004 to 2012 were reviewed and 97 patients (mean age: 13.3+/-2.9 years; range: 9-19 years) with subtalar coalition were identified. In 41 (42%) of these, the condition was bilateral, yielding a total of 138 subtalar coalitions. In the 33 patients where CT demonstrated isolated posteromedial subtalar coalitions, multiplanar reformats along the long axis of the sustentaculum tali were generated, from which the anteroposterior dimensions of the sustentaculum tali and middle facet were measured. Posterior sustentaculum measurements defining the posterior extension of the sustentaculum beyond the middle facet were directly measured by two radiologists. Ratios of middle facet to posterior sustentaculum measurements were calculated. Thirty-three patients undergoing CT for ankle fracture served as controls. Ninety-seven of 138 coalitions (70.2%) affected the middle facet and 2/138 (1.4%) involved the posterior facet. There were 39 (28.2%) posteromedial subtalar coalitions in 33 patients. Mean AP measurements of the middle facet and posterior sustentaculum in patients with posteromedial subtalar coalitions were 12.6 mm and 18.2 mm, respectively, compared to 16.6 mm and 9.2 mm in controls (P

Prion diseases are of considerable importance because of the threat of a variant form of Creutzfeldt Jakob disease that has emerged in recent years. Pre-clinical diagnosis of prion diseases still remains poor and effective therapies also do not exist at present. This review examines research on possible therapeutic strategies that might have potential benefits if applied before neurodegeneration has occurred.

Objective: To investigate the role of human T-lymphotrophic virus type I (HTLV-I) infection in four patients who developed slowly progressive myelopathy with abnormal MRI lesions in the cervical cord levels. Methods: Clinical and neuroradiologic examinations were performed, and the odds that an HTLV-I-infected individual of specified genotype, age, and provirus load had HTLV-I-associated myelopathy (HAM)/tropical spastic paraparesis (TSP) were calculated. Results: Anti-HTLV-I antibodies were positive in both the serum and the CSF in all of the patients. Biopsied sample from spinal cord lesions showed inflammatory changes in Patient 1. Patient 2 had a demyelinating type of sensorimotor polyneuropathy. Two of the three patients examined showed high risk of developing HAM/TSP in virologic and immunologic aspects. Conclusion: These four cases may belong to a variant form of HAM/TSP, predominantly involving the cervical cord levels.

Trichophyton raubitschekii is currently regarded as a synonymous name betokening a variant form of Trichophyton rubrum. Nonetheless, isolates conforming to this morphotaxonomic concept have morphological, physiological and clinical features very different from those of typical T. rubrum. Isolates are mainly obtained from subjects originating from certain tropical and subtropical countries, and are mainly obtained from upper body skin infections, rarely from onychomycosis. In this paper the authors report the first known Italian case of onychomycosis caused by such an isolate. The patient, a male student from Cameroon, had a typical fingernail tinea unguium, without any other sign of skin or nail infection. 'T. raubitschekii' was identified on morphological and physiological grounds by the following features: velvety colony surface, brownish pigment, abundant macroconidia and microconidia, and positive urease activity. Such isolates may prove very difficult to identify correctly, especially in areas like Italy where T. rubrum is normally seen only as isolates presenting a strongly differing phenotype.

The report focuses on a rare variant form of epidermal nevus syndrome (ENS) (Schimmelpenning-Feuerstein-Mims syndrome) describing lesions involving the skin, eyes, skeleton, heart and brain in an 11-year-old boy. Despite his evident brain pathology, the boy lacks neurological symptoms and mental retardation. We describe his unusual MRI appearances and radiographic skeletal findings. To our knowledge this is the first report of ENS with lymphoedema occurring together in the same individual.

Transmissible spongiform encephalopathies (TSEs) attracted increased attention in the mid-1980s because of the emergence among UK cattle of bovine spongiform encephalopathy (BSE), which has been shown to be transmitted to humans, causing a variant form of Creutzfeldt-Jakob disease (vCJD). The BSE outbreak has been reported in 19 European countries, Israel, and Japan, and human cases have so far been identified in four European countries, and more recently in a Canadian resident and a US resident who each lived in Britain during the BSE outbreak. To monitor the occurrence of emerging forms of CJD, such as vCJD, in the United States, the Centers for Disease Control and Prevention has been conducting surveillance for human TSEs through several mechanisms, including the establishment of the National Prion Disease Pathology Surveillance Center. Physicians are encouraged to maintain a high index of suspicion for vCJD and use the free services of the pathology center to assess the neuropathology of clinically diagnosed and suspected cases of CJD or other TSEs.

Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of progressive neurodegenerative disorders that affect both animals and humans. These diseases take part of their name from a striking and common neuropathological feature: spongiform ("sponge-like") degeneration of the brain. As the name also implies, TSEs can literally be transmitted from one host to another much like any other infectious disease. In these situations, however, symptoms may take months or years to appear in the recipient host. Otherwise, TSEs either develop spontaneously or rarely arise through genetic mutation and therefore occur as familial disorders. Regardless of their origin, all TSEs progress over a period of months inevitably leading to the death of the affected individual. From a neuropsychiatric perspective, it is notable that the newly identified variant form of Creutzfeldt-Jakob disease (vCJD) typically occurs in younger adults causing prominent psychiatric and/or behavioral abnormalities as important early manifestations of disease. This has forced a heightened awareness of vCJD among mental health professionals throughout the United Kingdom where the disorder occurs. Relevant features of both the classic and variant forms of Creutzfeldt-Jakob disease (CJD) will be reviewed.

BACKGROUND: Prions, the infectious agents responsible for transmissible spongiform encephalopathies, consist mainly of the misfolded prion protein (PrPSc). The unique mechanism of transmission and the appearance of a variant form of Creutzfeldt–Jakob disease, which has been linked to consumption of prion-contaminated cattle meat, have raised concerns about public health. Evidence suggests that variant Creutzfeldt–Jakob disease prions circulate in body fluids from people in whom the disease is silently incubating.METHODS: To investigate whether PrPSc can be detected in the urine of patients with variant Creutzfeldt–Jakob disease, we used the protein misfolding cyclic amplification (PMCA) technique to amplify minute quantities of PrPSc, enabling highly sensitive detection of the protein. We analyzed urine samples from several patients with various transmissible spongiform encephalopathies (variant and sporadic Creutzfeldt–Jakob disease and genetic forms of prion disease), patients with other degenerative or nondegenerative neurologic disorders, and healthy persons. RESULTS: PrPSc was detectable only in the urine of patients with variant Creutzfeldt–Jakob disease and had the typical electrophoretic profile associated with this disease. PrPSc was detected in 13 of 14 urine samples obtained from patients with variant Creutzfeldt–Jakob disease and in none of the 224 urine samples obtained from patients with other neurologic diseases and from healthy controls, resulting in an estimated sensitivity of 92.9% (95% confidence interval [CI], 66.1 to 99.8) and a specificity of 100.0% (95% CI, 98.4 to 100.0). The PrPSc concentration in urine calculated by means of quantitative PMCA was estimated at 1×10−16 g per milliliter, or 3×10−21 mol per milliliter, which extrapolates to approximately 40 to 100 oligomeric particles of PrPSc per milliliter of urine.CONCLUSIONS: Urine samples obtained from patients with variant Creutzfeldt–Jakob disease contained minute quantities of PrPSc. (Funded by the National Institutes of Health and others.)

It is claimed that interferon-tau (IFN-tau) has broad cross-species reactivity and less cytotoxicity than other type I IFN when used at high concentration either in vitro or in living animals. It can also amelioriate the development of experimental allergic encephalomyelitis (EAE) without the usual side effects of IFN therapy in mice autoimmunized with myelin basic protein. For these reasons, IFN-tau may have therapeutic potential in humans. Here, the antiviral (AV) activities of eight different recombinant IFN-tau were compared with those of several bovine, human, and murine type I IFN on bovine MDBK cells, murine L929 cells, and human WISH cells. The data show that only one of the IFN-tau, OvIFN-tau4, has broad cross-species reactivity. It was comparable in this respect to HuIFN-omega1 and HuIFN-alpha1. The other IFN-tau, including the variant form (OvIFN-tau1mod) tested by others in cytotoxicity experiments and for its ability to protect mice against EAE, had relatively weak AV activity on mouse and human cells. It is possibly because this particular bioengineered form of IFN-tau binds the common type I receptor of these two species with such low affinity that it lacks cytotoxic effects. The basis for its potent anti-EAE activity is unclear, but it seems possible that it does not involve the type I IFN receptor.

A variant form of anterior hypospadias, called a megameatus and intact prepuce (MIP), is thought to be less amenable to conventional distal hypospadias repair. The feasibility of using the standard technique with a parameatal-based foreskin flap is described herein.Nine children with the MIP variant underwent repair. A foreskin flap for urethroplasty was harvested from either the ventral (Mathiew) or unilateral site. The glans was split along with the cleft glanular groove to create the glans wings. The flap was laid on the urethral plate to form a neourethra, and glanulomeatoplasty was completed by approximation of the glans wings. Sleeve reapproximation of the penile foreskin was performed for uncircumcised skin closure.The functional and cosmetic results of the procedure were excellent in 8 cases including 1 with temporary postoperative edema of redundant foreskin. The last case underwent excision of the ventral excess foreskin for cosmetic reasons.Although the etiology of the MIP variant remains obscure, the urethral plate distal to the meatus is uniformly pliable and healthy in this variant. Furthermore, the ventral portion just proximal to the meatus is well developed and not atretic so that the parameatal ventral foreskin is safely harvested for onlay urethroplasty.

Idiopathic stabbing headache is a primary headache defined as “transient stabs of pain in the head that occur spontaneously in the absence of underlying organic disease.” Although its variant form, stabbing pain with extracephalic distribution, has been reported in rare adult cases, pediatric presentation is extremely rare. We report an 8-year-old boy suffering from severe stabbing pain in the left side of the chest, right side of the abdomen, and right knee lasting 2 to 3 minutes with increasing frequency. He was completely normal between attacks. The attack was not accompanied with headache initially. Investigation showed no abnormality. A diagnosis of extracephalic stabbing pain was made. The patient’s symptoms were ameliorated by administration of valproic acid. This report illustrates that extracephalic stabbing pain can occur in pediatric patients. It is important to be aware of this peculiar condition because the pain is so severe, and it can be treatable with medication.

Proximal-type epithelioid sarcoma is an uncommon but aggressive soft-tissue malignancy involving proximal body parts especially perineum and genitalia of adult patients. This entity is a variant form of the conventional epithelioid sarcoma, which is frequently encountered at extremities of adolescents or young adults. The authors present a case of proximal-type epithelioid sarcoma of the scrotum with comprehensive staging and monitoring with PET/CT.

Reprogramming of somatic cells to a pluripotent state holds huge potentials for regenerative medicine. However, a debate over which method is better, somatic cell nuclear transfer (SCNT) or induced pluripotent stem (iPS) cells, still persists. Both approaches have the potential to generate patient-specific pluripotent stem cells for replacement therapy. Yet, although SCNT has been successfully applied in various vertebrates, no human pluripotent stem cells have been generated by SCNT due to technical, legal and ethical difficulties. On the other hand, human iPS cell lines have been reported from both healthy and diseased individuals. A recent study reported the generation of triploid human pluripotent stem cells by transferring somatic nuclei into oocytes, a variant form of SCNT. In this essay, we discuss this progress and the potentials of these two reprogramming approaches for regenerative medicine.

The orofaciodigital syndrome (OFDS) represents a complicated group of disorders characterized by oral anomalies, facial dysmorphism, and digital deformities, in which at least 13 different types have been described. Autosomal-recessive OFDS-II was first reorted by Mohr and was characterized by hypertelorism, a median cleft of the upper lip, a highly arched or cleft palate, cleft tongue, tongue nodules, and polysyndactyly of the hands and feet. This report describes a case of OFDS-II. To the authors’ knowledge, no case of bilateral cleft lip in OFDS-II has been reported previously.

Primary microcephaly (MCPH), a rare autosomal recessive neurodevelopmental disorder, is characterized by reduced brain size and mental retardation.1 The reduced brain size is believed to result fro...

Acute intermittent porphyria (AIP), an autosomal dominant disorder, is divided into two forms, the classical form (more than 95%) and the non-erythroid variant form, according to erythroid porphobilinogen deaminase (PBGD) activity. In the variant form, the PBGD activity is essentially normal. Detection of presymptomatic mutation carriers relies on a DNA test. This variant form of AIP is very rare, with only nine families carrying five different mutations reported in the literature. Here we report a novel G-to-T transversion in the first position of intron 1 of the PBGD gene in a family with this variant form of AIP. We also review all previously reported cases and propose an effective diagnostic approach.

Since 1996 with the recognition of a variant form, Creutzfeldt-Jakob disease has become more prominent in the medical literature. Of particular interest to anaesthetists is the risk of iatrogenic spread of the disease. In this article, the relevant literature is reviewed and the experience within New Zealand examined. The presentation, pathology and incidence of the disease is reviewed and the current guidelines for the preoperative management of patients with known or suspected Creutzfeldt-Jakob disease are outlined.

Exercise studies dealing with hGH have always considered this hormone as a unique molecular entity. We postulated that the well-known variability in blood total hGH response could possibly be explained, at least in part, by concomitant changes in blood hGH20k levels, variant form possibly expressing some of the hGH anti-insulinic properties. Six male trained cyclists were imposed a 2-hr long ergocycle exercise. Food supplements were given prior to and/or during exertion to exacerbate a possible contribution from hGH20k to total hGH variability by modification of substrate availability. Both blood total hGH and hGH20k levels increased with exercise, the largest increases being observed in absence of supplementation. Large variability of responses were observed in both blood total hGH and hGH20k levels, the latter variant contributing minimally to total blood hGH response (4.3 +/- 0.8%), and being closely associated with the main species (r = 0.90; p less than 0.001). It was concluded that variations associated with hGH20k increases observed in response to prolonged exercise cannot explain the large intra-and inter-individual variability measured in blood total hGH response.

From a meager beginning in 1968, when Batten disease or neuronal ceroid lipofuscinosis was practically unheard of, tremendous advances have been made. It is now recognized worldwide as the most common neurodegenerative disease in children and young adults. It is recognized as a genetic disease. The infantile form has been localized to chromosome 1 p32 and the juvenile form, to 16p12.1; the gene for the late infantile is on chromosome 11p15 and for a variant form of the late infantile, the gene lies on chromosome 15q21–23. Finally, the molecular basis of the late infantile form is probably a pepstatin-insensitive lysomal peptidase. The future is to identify carriers, prevent the disease, and develop treatment by gene and enzyme replacement.

The term “cluster vertigo” was originally used by Gilbert to describe episodes of vertigo in patients with Ménière's syndrome. Since these patients also had co-existing cluster headache, he suggested that both disorders could have had a common pathophysiology. There is no evidence in the literature for an increased incidence of Ménière's syndrome in cluster headache patients, so the argument that cluster headache and Ménière's syndrome may have a common pathogenesis cannot be supported. Subsequent authors have used the term “cluster vertigo” to denote a variant form of cluster headache and have confused the matter further. This was not the intention of the original author. The terminology is misleading and should not be used to describe a sub-type of cluster headache. A case of cluster headache with accompanying vertigo is described as a contrast to the patients described by Gilbert in whom headache and episodes of vertigo occurred independently.

Eruptive vellus hair cysts (EVHC) are small, cystic papules that usually occur on the chest and extremities. Their aetiology is unknown. Fewer than 10 cases of a variant form of EVHC that occur exclusively on the face have been reported. We describe a case of EVHC limited to the right side of the face. To the best of our knowledge, no case of unilateral EVHC has been reported.

Transmissible spongiform encephalopathies (TSEs) are associated with the accumulation in infected tissues of a disease-associated form of a host-encoded protein, the prion protein (PrP). Contrary to the normal form of the protein, this form of PrP is partially resistant to protease digestion (PrP res ). Detailed characterisation of PrP res has been intensively investigated in recent years to try and decipher the diversity of TSEs in human and animals. This considerably and unexpectedly enlarged our knowledge about such diseases in ruminants. Previously, such a diversity was essentially shown by the demonstration that scrapie from sheep and goats could have different biological behaviours following transmission of the disease in mice, unlike bovine spongiform encephalopathy from cattle (BSE) which showed a distinct and unique behaviour. The properties of the BSE agent were also demonstrated to be very stable, following transmission to a variety of different species. Molecular studies of PrP res , followed by transmission studies to mice, gave the first evidence for the accidental transmission of the BSE agent to humans where it induced a variant form of the fatal Creutzfeldt-Jakob disease (CJD) and also to different animal species including a goat in France. This last case was found among a few unusual cases of TSEs in small ruminants that showed some molecular similarities with BSE and which are currently under investigation by transmission studies in mice. The application of the molecular methods to characterise PrP res has most recently led to the unexpected discovery of deviant BSE forms in a few affected cattle in Europe and in the United States, which raises the question of a possible different origin at least of some cases of BSE in cattle. Finally, considerable numbers of a new TSE form in small ruminants, referred to as “atypical scrapie” or “Nor98”, have meanwhile been identified in most European countries by TSE rapid testing using an assay which recognizes also comparatively less PK resistant PrP res .

A newly reported, variant form of venous thromboembolism (VTE), named as "eThrombosis", occurred in a patient who maintained a prolonged sitting position at a computer. The patient fortunately recovered from the disease through early diagnosis and treatment. Recently however, the author experienced a new case of a 24-year-old Korean man who died due to "eThrombosis" after playing an Internet computer game continuously for about 80 hours. Based on this case, the author would like to warn heavy computer users of the risk of "eThrombosis", as they might also be at risk. Sitting for a long time at the computer results in an immobility that is a new and large risk factor of life-threatening VTE.

Prions are small proteinaceous infectious agents known to cause central nervous system infections in both animals and humans. Interest in the pathogenesis of these diseases has grown since the emergence of bovine spongiform encephalopathy (BSE or "mad cow disease") in the United Kingdom and several other countries in Europe. Ingestion of meat products from animals infected with BSE has resulted in transmission of the disease to humans as a variant form of Creutzfeldt-Jakob Disease (vCJD). CJD has a long asymptomatic incubation period, is untreatable, and universally fatal. Hence concern has arisen over other possible routes of disease transmission. Because it is known that prions are found in low levels in the corneas of animals with experimentally induced prion disease, and that a case of human CJD transmission by corneal transplantation has occurred, the question of possible prion transmission through the reuse of diagnostic fitting of contact lenses has surfaced. This article reviews prion diseases of animals and humans, and the data regarding the presence and location of prions in the eye. Issues inherent in the question of corneal and contact lens transmission are discussed. Although some key information has yet to be derived, it appears that the chance of obtaining prion disease through contact lens use is negligible.

Strong epidemiologic and laboratory evidence indicate that a novel, variant form of Creutzfeldt-Jakob disease (vCJD) first reported in the United Kingdom in 1996 is causally linked with bovine spongiform encephalopathy (BSE). BSE was first identified in the early 1980s in the United Kingdom, and has since spread to other European countries and recently to Japan and Israel. Although the United Kingdom BSE epizootic is on the decline, widespread exposure of humans to infected cattle products may have already occurred, raising concerns about the ultimate magnitude of the vCJD outbreak which, as of October 2002, has already affected 138 patients worldwide, including 128 patients in the United Kingdom.

Whole-body L-leucine oxidation was assessed in patients with maple syrup urine disease of different severity using oral L-[1-(13)C]leucine bolus tests (38 micromol/kg body weight). Residual whole-body L-leucine oxidation was estimated on the basis of the 3-h kinetics of (13)CO(2) exhalation and (13)C-isotopic enrichment in plasma 4-methyl-2-oxopentanoate using a noncompartmental mathematical approach. In four patients with classical maple syrup urine disease (two females and two males; mean age, 13 +/- 5 y; range, 7--17 y), L-leucine oxidation was too low to be measurable. In two females (aged 11 and 15 y) with a severe variant form of the disease, whole-body L-leucine oxidation was reduced to about 4% of control. In six milder variants (two females and four males; mean age +/- SD, 15 +/- 10 y; range, 6--34 y), the estimates for residual whole-body L-leucine oxidation ranged from 19 to 86% (59 +/- 24%) of control and were substantially higher than the residual branched-chain 2-oxo acid dehydrogenase complex activities in the patients' fibroblasts (10--25% of control). Possible mechanisms are considered that might contribute to a comparatively high residual in vivo L-leucine oxidation in (mild) variant maple syrup urine disease.

We believe this is the first reported case of seminoma in a patient with the 48,XXYY variant form of Klinefelter's syndrome. Moreover, the seminoma in this patient occurred in a normally descended testis. We report this case because patients with 48,XXYY Klinefelter's syndrome are often confined to institutions, where the diagnosis of testicular tumor may not be recognized as readily.

The epidemiology of neuronal ceroid lipofuscinoses (IMCL) in Scandinavia was studied. For juvenile NCL 40 Swedish living patients were identified. The corresponding number for Finland was 61, for Norway 28, for Denmark 16 and for Iceland three. The prevalence of juvenile NCL was thus 4.6, 12.2, 6.5, 3.1 and 11 per million inhabitants in Sweden, Finland, Norway, Denmark, and Iceland, respectively. For calculating incidence the years 1976-85 were used. The incidence was 2.2 per 100,000 live births in Sweden, 4.8 in Finland, 3.7 in Norway, 2.0 in Denmark, and 7.0 in Iceland. Late infantile NCL was found in five Swedish children, including one variant form, CLN5. This gives a prevalence of about 0.6 per million. In Finland 13 cases gave a prevalence of 2.6 per million with the variant form in 80 % of cases. In Norway, three children corresponded to a prevalence of 0.7 per million and one case in Iceland to 3.8 per million. No Danish cases were reported. As for infantile NCL, sixteen Swedish cases have been diagnosed during the 27-year period 1968-95, six are presently alive. This gives an estimated prevalence of 0.7 per million and an incidence of 0.6 per 100,000. The prevalence and incidence of infantile NCL in Finland were 5.4 per million and 5 per 100,000, respectively. The prevalence in Norway was 0.2 per million inhabitants. The variability of onset, clinical course and symptoms in the Swedish cases of juvenile and infantile NCL were analysed.

Banding cytogenetics and fluorescence in situ hybridization analysis of a pulmonary chondroid hamartoma (PCH) showed the presence of a t(6;10)(p21;q22). A cytogenetically identical translocation has previously been found in another case of PCH, suggesting that it could represent a variant form of the standard t(6;14)(p21;q24). Genes Chromosom Cancer 15:246–248 (1996). © 1996 Wiley-Liss, Inc.

Six Japanese patients in Hokkaido area were diagnosed as xeroderma pigmentosum (XP) at two University Hospital; one patient, a 29 years old female (XP2AS) at Asahikawa Medical College, and five patients, namely, a 53 years old male (XP1SA), a 45 years old female (XP2SA), a 46 years old female (XP3SA), a 47 years old male (XP4SA) and a 34 years old male (XP5SA) at Hokkaido University School of Medicine. All these XP patients showed mild skin symptoms and had no apparent neurological abnormalities. To identify genetic complementation groups of these patients, DNA repair capacities in skin fibroblasts derived from the patients were analyzed by ultraviolet light (UV)-induced unscheduled DNA synthesis (UDS), and also by colony-forming abilities of UV-irradiated cells incubated with or without caffeine added in post-UV culture medium. The levels of UDS measured by autoradiography in these XP cells irradiated with 20 J/m2 of UV were 67 to 84% of those of normal human fibroblasts. Although one XP cell strain (XP2AS) showed about 2-fold greater sensitivity to killing by UV than normal cells, UV sensitivities of the rest of 5 XP strains were similar or only slightly higher than those of normal cells. However, UV sensitivities of all the 6 XP cell strains markedly increased by addition of 1 mM caffeine in the post-UV incubation medium, a phenomenon characteristic of XP variant cells. We also analyzed post-replication repair in XP1SA cells by sedimentation of newly-synthesized DNA in alkaline sucrose gradient, and found that this strain is defective in this repair system. From these results, we concluded that all the 6 XP strains studied here belong to XP variants.

A red-violet, rhomboid-shaped mark on the sacrum of 25 children is described. It is recognized, for the first time, as a part of the nevus flammeus simplex distribution; it is less common than the erythema nuchae or the facial salmon patch. It has the tendency to disappear more slowly than other forms of nevus flammeus simplex. No further investigations seem indicated.

SUMMARY We report a case of the variant form of xeroderma pigmentosum in whom tumour development was completely suppressed for 22 months by etretinate 25 mg daily.

Not long ago, many physicians thought exercise-induced asthma was a variant form of the disease. Now it is apparent that nearly all people with asthma have respiratory symptoms at least occasionall...

A female newborn probably with a variant form of galactosialidosis is described. The patient, in addition to the common findings seen in early infantile forms of classical galactosialidosis, displayed an unusual combination of congenital malformations including complex cyanotic congenital heart disease with dextrocardia and situs inversus.

A form of angiitis and granulomatosis principally involving the lung was identified as a variant form of Wegener granulomatosis only 15 years ago. Recent experience indicates that the most common form of pulmonary angiitis and granulomatosis is lymphomatoid granulomatosis. Chest radiographs of 16 patients with this condition were reviewed and the findings compared with those of Wegener granulomatosis. The frequency and distribution of nodular masses, cavitation, and migratory lesions were similar in the two disorders, but reticulonodular infiltrates occurred only in lymphomatoid granulomatosis. The study suggests that lymphomatoid granulomatosis and Wegener granulomatosis occasionally can be distinguished by radiographic criteria. Although radiologic patterns will suggest the diagnosis of pulmonary angiitis and granulomatosis, the specific diagnosis of lymphomatoid granulomatosis must rely on clinical, immunologic, and pathologic evidence. Accurate differentiation is essential since treatment of Wegener granulomatosis with cyclophosphamide is highly effective while treatment of lymphomatoid granulomatosis is infrequently successful.

Genetic heterogeneity of the Morquio syndrome has been known since deficiency of β-galactosidase was detected in some patients in addition to the deficiency of N-acetylgalactosamine-6-sulphate sulphatase in the classical form of Morquio syndrome. The clinical findings of 11 patients with MPS IVA, the classical form, and 2 patients with MPS IV B, a variant form, are described. All of the patients with MPS IV A showed extraskeletal manifestations of their disease. The patients with MPS IV B seem to be less severely affected.

A combination of cataplexy and a variant form of Niemann-Pick disease has occurred in five patients described in the literature as well as in two of our patients. In our Patient 1, cataplexy was differentiated from epilepsy by electroencephalographic telemetry and narcolepsy was confirmed by polysomnography. Cataplexy was abolished in both of our patients by treatment with protriptyline. Four of the seven patients had impairment of vertical eye movements. All seven patients had a disorder best classified as type C or D Niemann-Pick disease or the Neville, Wenger, or Wiedemann variant. This appears to be the first identified relationship between cataplexy and a specific disease.