Glomerulocystic kidney disease: a single entity?

A case of glomerulocystic disease in a young adult with no family history or presence of other extrarenal malformations is described. Histological study revealed the presence of numerous cortical cysts corresponding to dilatations of Bowman's space. The patient had mild stable chronic renal failure for 5 years. In our patient, the disease corresponded to a sporadic adult form of glomerulocystic disease.     

The diagnosis and treatment procedure in periodic disease

The main forms of periodic disease are presented, clinical cases with the different forms are described. A special attention is paid to the problems of diagnosis and treatment in the emergency surgery of the abdominal organs is abdominal form of the disease.     

Medullary carcinomas of the thyroid. General review apropos of 3 further cases

The authors report of three cases of medullary carcinoma of the thyroid and, from a review of the literature, study the definition, frequency, embryological and etiological characteristics of this disease. The physiology of thyrocalcitonin, the concept of the APUD system the secretion of active substances by the tumour cells are considered. The macroscopic and microscopic characteristics and its mode of spread are described. The two main clinical forms, the sporadic form and the familial form are described together with the other endocrine involvements. Among the factors in positive diagnosis, accent is placed on per-operative histological examination and on biological tests of familial detection. Among the forms of treatment the essential place of surgery explains partly the relatively favourable course and prognosis of the malignant disease.     

Muscular biopsy in ceroid lipofuscinosis: 3 case reports of juvenile form

Ceroid lipofuscinosis (CLF) is a progressive hereditary neurodegenerative disease characterised by deposits in the central nervous system and other tissues of ceroid lipopigment. Symptomatology and clinical course of the disease are heterogeneous and up to ten types have been distinguished, although the most frequent and best known are the Santavuori-Haltia infantile form, the Jansky-Bielschowsky late infantile form, the Spielmeyer-Vogt juvenile form and the Kufs adult form. We present here three cases diagnosed as having juvenile ceroid lipofuscinosis by means of muscular biopsy. Although morphological and ultrastructural findings in CLF have already been described in literature, the use of muscular biopsy as a means of diagnosis is not usual and its usefulness is not very well known. For this reason, we especially recommend this method for its simplicity and diagnostic specificity.     

Frontal type dementia and amyotrophic lateral sclerosis. 3 cases with (HmPAO Tc99m) single-photon emission tomography study

Three cases of rapid onset neuropsychological frontal dementia preceded the development of sporadic amyotrophic lateral sclerosis by 12 to 24 months. HmPAO Tc99m scintigraphy demonstrated hypoactivity in the cortex, predominantly in the frontal region. Three hypotheses are discussed: 1) coincidence between two degenerative diseases, Alzheimer's disease or Pick's disease and ALS; 2) an amyotrophic form of Creutzfeld Jakob disease; 3) pre-senile dementia associated with a motoneuron disease, a clinical pathology entity recently described by Mitzuyama.     

The morphological characteristics of cell death in different forms of acute tick-borne encephalitis

The study was aimed to identify different types of cell death in monkey brain in flavivirus experimental encephalitis. 10 brain areas most vulnerable ("indicator") of the disease in its different forms (symptomless, intermediate and severe) were examined in animals infected intracerebrally with viruses of tick-borne encephalitis. Cells of ectodermal and mesenchymal origin displayed apoptosis that was most pronounced in intermediate form of the severity of the disease. Apoptosis was not characteristic for the symptomless form of tick-borne encephalitis. Two types of apoptosis morphological manifestations in nerve cells were described.     

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder that is characterized by dysmyelination of the central nervous system resulting from mutations in the proteolipid protein (PLP) gene. Mutations causing either overexpression or expression of a truncated form of PLP result in oligodendrocyte cell death because of accumulation of PLP in the endoplasmic reticulum. It has therefore been hypothesized that absence of the protein should result in a less severe phenotype. However, until now, only one patient has been described with a complete deletion of the PLP gene. We report a Dutch family with a relatively mild form of PMD, in which the disease cosegregates with a (G-to-A) mutation in the initiation codon of the PLP gene. This mutation should cause the total absence of PLP and is therefore in agreement with the hypothesis that absence of PLP leads to a mild form of PMD.     

European Consensus Statement on Neonatal Hearing Screening. Finalised at the European Consensus Development Conference on Neonatal Hearing Screening, 15-16 May 1998, Milan

Lyme disease is well known for affecting the myocardium in the form of carditis and dilated cardiomyopathy. Pericardial effusion associated with Lyme disease has not been described as yet. This article demonstrates a case of a female patient, 54 years of age, with Borrelia burgdorferi infection and associated pericardial effusion. Recurrent pericardiocenteses as well as conventional treatment of the condition were without success. Diagnosis of Borrelia infection and subsequent treatment with ceftriaxone led to permanent restitution of the pericardial effusion.     

Angiographic findings in hereditary hemorrhagic teleangiectasia: a case study of Rendu-Osler-Weber disease

A case of Rendu-Osler-Weber disease in 48 year old male was described. Selective arteriography of superior mesenteric artery revealed its widening (including intestine branches), numerous anastomoses in the form of microhaemangioma and fast venous return with broad superior mesenteric and portal vein.     

Malignant histiocytic lymphoma with large lacunar cells

A case of lymph node biopsy with a peculiar histological aspect is described. The clinical data suggest a malignant lymphoid disease. The histological picture is that of a malignant histiocytosis but, among the majority of small histiocytes, there are some large cells like the large lacunar cells from Hodgkin's disease. These large cells (and some small cells) contain the CD 30 antigen of Reed-Sternberg cells. It is discussed whether the appropriate diagnosis is Hodgkin's disease, malignant histiocytosis, or non-Hodgkin's malignant lymphoma. Our diagnosis is Hodgkin's disease, the nodular sclerosing form.     

Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance

We describe a familial form of renal Fanconi syndrome characterized by hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and slowly progressive renal failure. Males are much more severely affected than females. The patients studied included 15 males and 10 females, and five families with up to three generations involved. Studies of the two largest families described here have already shown that their disease is inherited on the X-chromosome. The series contains the two unrelated patients originally described by Dent and Friedman in 1964 as 'hypercalcuric rickets'.     

About the further development of a 6 year old boy with essential hyperlipaemia (fat induced hypertriglyceridaemia)

1961 the authors observed and described a rare form of Essential Hyperlipaemia seen in a 6 year old boy. On a diet poor of fat food the patient has been in good health without any complaints for the last 13 years. The disease did not show any tendency to recur. The child grew and lived through puberty quite normally. Only at the age of 19, during military service, the symptoms of the disease were noticed again. When released from the military service and put back to his usual diet his condition normalised quickly.     

Akinetic mutism as a classification criterion for the diagnosis of Creutzfeldt-Jakob disease

OBJECTIVES: Among the classification criteria for the diagnosis of Creutzfeldt-Jakob disease, akinetic mutism is described as a symptom which helps to establish the diagnosis as possible or probable. Akinetic mutism has been anatomically divided into two forms--the mesencephalic form and the frontal form. The aim of this study was to delimit the symptom of akinetic mutism in patients with Creutzfeldt-Jakob disease from the complex of symptoms of an apallic syndrome and to assign it to the individual forms. METHODS: Between April and December 1996, 25 akinetic and mute patients with Creutzfeldt-Jakob disease were consecutively examined. The patients were classified according to the definition of akinetic mutism by Cairns and secondly in accordance with the features constituting the complete picture of an appalic syndrome (defined by Gerstenbrand). RESULTS: From 25 patients with definite Creutzfeldt-Jakob disease, 24 patients showed impoverishment of speech and, after a mean duration of four (range 1.1-11.2) months, almost complete absence of voluntary movements and speech. Seven patients were classified as being mute and akinetic and assigned to the mesencephalic form whereas 13 patients were classified as apallic. One patient was mute without being akinetic and four patients were comatose. CONCLUSION: Diffuse brain damage underlies akinetic mutism in patients with Creutzfeldt-Jakob disease. The term can be used as a classification criterion for the diagnosis of Creutzfeldt-Jakob disease; however, it should be applied very carefully and delimited clearly from the apallic syndrome.     

Detection of Francisella tularensis by the polymerase chain reaction

A 27-year-old woman and a 13-year-old girl diagnosed with juvenile dermatomyositis in childhood developed clinical findings of partial lipodystrophy 10 years after diagnosis. Exhaustive clinical and laboratory examinations showed an association with other abnormalities: hypertrichosis, steatohepatitis, and an abnormal insulin response to the glucose loading test in the first patient. Hypertrichosis, steatohepatitis, insulin-resistant diabetes mellitus, and acanthosis nigricans were observed in the second patient. Renal function was normal in both patients. Although a localized form of lipodystrophy has been reported associated with connective tissue disease (connective tissue lipoatrophy), the partial form has been infrequently described in association with juvenile dermatomyositis.     

Allelic heterogeneity of Mediterranean myoclonus and the cystatin B gene

Mediterranean myoclonus is a progressive myoclonus epilepsy with autosomal recessive inheritance. Another form has been described in Finland, the so-called Baltic myoclonus. Mediterranean myoclonus and Baltic myoclonus are also known as Unverricht-Lundborg disease. Linkage analyses have shown that the genes for both these forms of myoclonus are closely linked to 21q22.3 DNA markers, suggesting that they are caused by mutations at the same locus (EPM1). Recently, two heterozygous mutations were found in the cystatin B gene in patients with Unverricht-Lundborg disease. We report recombinational and linkage disequilibrium mapping of EPM1, and cystatin B gene sequencing, in 14 consanguineous pedigrees with Mediterranean myoclonus. Linkage to 21q22.3 DNA markers was observed in all these families. Haplotype analysis suggests that a common mutation segregates within these pedigrees, and that this mutation is different from the common one responsible for the Finnish form of Unverricht-Lundborg disease. No mutation was found in the exons or splice junctions of the cystatin B gene in the 14 pedigrees.     

Detection of the 70-kilodalton histoplasma capsulatum antigen in serum of histoplasmosis patients: correlation between antigenemia and therapy during follow-up

Histoplasmosis is an important systemic fungal infection, particularly among immunocompromised individuals, who may develop a progressive disseminated form which is often fatal if it is untreated. In such patients, the detection of antibody responses for both diagnosis and follow-up may be of limited use, whereas the detection of Histoplasma capsulatum var. capsulatum antigens may provide a more practical approach. We have recently described an inhibition enzyme-linked immunosorbent assay (ELISA) for the detection in patients' sera of a 69- to 70-kDa H. capsulatum var. capsulatum-specific antigen which appears to be useful in diagnosis. To investigate its potential for the follow-up of histoplasmosis patients during treatment, antigen titers in the sera of 16 patients presenting with different clinical forms of histoplasmosis were monitored at regular intervals for up to 80 weeks. Sera from four of five patients with the acute form of the disease showed rapid falls in antigenemia, becoming antigen negative by week 14 (range, weeks 10 to 16). Sera from four patients with disseminated histoplasmosis showed falls in antigen levels; three of them became antigen negative by week 32; the fourth patient became negative by week 48. In contrast, antigen titers in four of six AIDS patients with the disseminated form of the disease remained positive throughout follow-up. Sera from only one patient who presented with the chronic form of the disease were analyzed, and this individual's serum became antigen negative by week 9. The inhibition ELISA is shown to be of particular use in the monitoring of non-AIDS patients with the acute and disseminated forms of the disease and may complement existing means of follow-up.     

RAS and the myelodysplastic syndromes

RAS genes have been implicated in several different malignancies. The mechanism of activation in most cases has been due to point mutations at critical domains responsible for guanine nucleotide binding. These changes alter the conformation of the protein resulting in insensitivity of the protein to the GTPase activating protein which normally hydrolyses the active p21RAS GTP-bound form to the inactive GDP-bound form. RAS genes have potent effects on the differentiation and proliferation program of cells. The mechanism induced depends on the context in which RAS is found as well as its mutational status and indeed which RAS gene family member is involved. RAS mutations have been described early in the disease process in haematologically normal individuals at risk of mutations induced by either occupational hazard exposure, such as benzene, or of secondary disease after chemotherapy for a previous malignancy. It also been associated with disease progression from myelodysplasia (MDS) to acute myelogenous leukaemia (AML), but it has also been described to be lost upon disease progression, thus showing that RAS mutations are unlikely to be initiating events or at least not required for maintenance of disease. As RAS appears to be involved in primary and secondary myeloid leukaemias, it is a good candidate for gene targeted therapeutic intervention. Studies to target RAS either directly or indirectly by interfering in the RAS pathway are underway. Clinical trials with a peptide RAS vaccine are also ongoing in solid tumours. This report seeks to review the evidence for RAS involvement as oncogenes, focusing on MDS, the reasons as to why the hot spots of codons 12/13 and 61 are particularly potent in activating the transformation potential of RAS and the different approaches being undertaken to translate laboratory findings into therapeutic reality.     

A new endoscopic classification of Chronic Esophagitis

Based on our experience of 97 cases of chronic esophagitis diagnosed endoscopically and histologically by guided biopsies, a new macroscopial classification is suggested as follows: Type I: Erosive-ulcerative form; Type II: Granulative form;; Type III: Barrett-type ulcers; Type IV: Esophagogastric or marginal ulcerations; Type V: Stenosing form. Type I (44.2%) and Type IV (26.7%) are commonly seen. Type II (15.4%) and Type V (11.3%) are healing stages of peptic esophagitis. Type III (2.4%) is rare. The above described classification is clearly correlated with the clinical symptoms of the disease.     

Long-term propofol infusion and airway management in a patient with Goldenhar''s syndrome

SAPHO syndrome is characterized by osteoarticular involvement of ventral chest wall in the form of sternocostoclavicular osteoarthritis and hyperostosis and skin changes such as palmoplantar pustulosis and acne. Occasionally, psoriatic lesions and sacroiliitis are observed. However, despite the higher frequency of psoriasis in this syndrome, its inclusion in psoriatic arthropathy spectrum is not clearly established. The authors report three cases of SAPHO syndrome in psoriatic patients commenting on the difficulty in differentiating this entity from psoriatic arthritis as well as its relationship with seronegative spondyloarthropathies. This disease has been described mainly in Japan and only a few cases of this disease have been reported in the European or American literature.     

The application of random amplified polymorphic DNA for sandfly species identification

A case of disseminated North American blastomycosis is described in which the full extent of the multifocal osteomyelitis was depicted by Tc-99m MDP scintigraphy. Skeletal involvement by this disease is not uncommon, yet the utility of bone scintigraphy has not been reported. The efficacy with which the whole body may be examined makes this technique especially appropriate for a hematogenously disseminated and often multifocal form of osteomyelitis where radiographically occult and asymptomatic lesions may be present.