Discordance for systemic lupus erythematosus and hyper IgE syndrome in a pair of monozygotic twins.
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Adult↗
Biomedical subjects
F Franceschini
Publications and source records attributed to F Franceschini.
Transient neonatal bradycardia without heart block associated with anti-Ro antibodies.
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Adult↗
The efficacy of E.P.D., a new immunotherapy, in the treatment of allergic diseases in children.
A double blind study was made on a group of 35 children, 8 of whom were allergic to Grass and 27 allergic to Pteronyssinus and Farinae Dermatophagoides. We verified the efficacy and tolerability of a new immunotherapy called E.P.D. (Enzyme Potentiated Desensitization). This particular immunotherapy consists in an intradermal injection of a mix made up of an allergic solution at extremely low doses and an enzyme, beta-glucuronidase. The vaccine is administered once a year, two weeks before pollen peaks for children with seasonal allergies and two times a year, in February and November, for children with non-seasonal allergies (Dermatophagoides). The results, statistically analyzed on the basis of a symptoms score, showed good clinical efficacy in patients affected by both seasonal and non-seasonal allergies. Due to the clinical effectiveness, easy administration and excellent tolerability of the immunotherapy, E.P.D. is particularly suited for treating or reducing allergic symptoms in allergic children.
Adolescent↗
Isolated congenital complete heart block: longterm outcome of mothers, maternal antibody specificity and immunogenetic background.
OBJECTIVE: To assess the longterm outcome of mothers of children with isolated congenital complete heart block (CCHB), and the maternal specific immunoblot pattern and HLA antigens. METHODS: Fifteen mothers of 16 children with isolated CCHB were investigated; their followup extended up to 15.8 years on average after the index delivery. Anti-Ro and La antibodies were detected by counterimmunoelectrophoresis and ELISA; anti-Ro antibodies were studied by immunoblot. HLA typing was done using a microcytotoxicity test. RESULTS: One mother has systemic lupus erythematosus (SLE) before the index delivery. The other mothers developed only minor symptoms (arthralgia, dry eyes and photosensitivity) resembling primary Sjögren's syndrome more than classic lupus. All 15 mothers were anti-Ro and 9 were also anti-La positive, a mean of 12.5 years after the index delivery. Eight mothers reacted with the 52 kDa SSA(Ro) component, and 2 also with the 60 kDa SSA(Ro) component. The prevalence of the DR3 antigen and of the B44/DR5, DR3/DQ2 and A1/Cw7/B8/DR3/DQ2 haplotypes was significantly increased. CONCLUSION: The longterm outcome for the mothers of children with CCHB is more reassuring than generally assumed. All the mothers were anti-Ro positive by sensitive ELISA: Reactivity to the denaturated 52 kDa SSA(Ro) component seems characteristic of these mothers, who presented a particular immunogenetic background.
Adult↗
[Monoarthritis].
By definition, monoarticular arthritis means one-joint involvement, even though, in fact, such a condition is often an oligoarthritis because as many as two or three separate joints will be involved. Arthritis is often limited and may regress, so that it is frequently misdiagnosed. Sometimes, a monoarticular condition may be a polyarthritis onset (i.e., rheumatoid arthritis). Monoarticular arthritis can be caused by many factors, such as infections (septic arthritis), nonspecific inflammatory processes (reactive arthritis), crystals deposition (gout, CPPD crystal deposition disease), trauma, neoplasm (pigmented villonodular synovitis), immunologic conditions (amyloidosis) and hormonal changes (parathyroid disease). Its onset is usually acute and sometimes dramatic, with fever, pain and joint swelling, so that a decision must be made promptly to stop rapid illness evolution and to prevent the irreversible destruction of cartilage and bone (especially in septic arthritis). Diagnostic studies are performed with mono-bilateral radiographs of the joint. Radiographic findings (i.e., soft tissue swelling, joint effusion, widening and thinning of joint spaces, bone erosions and destruction of bone surface) are typical of the disease, but some findings (e.g., type of evolution and progression), laboratory tests, synovial biopsy and arthroscopy can differentiate infectious from inflammatory forms. Scintigraphy can depict isotopic joint uptake, before articular abnormalities are demonstrated with radiography, thanks to its high sensitivity; nevertheless, because of its low specificity, scintigraphy may miss some kinds of lesions (including osteoarthritis) and cannot easily differentiate osteomyelitis from septic arthritis. CT and MRI play a secondary, though not negligible, role, especially to study such deep infections as psoas abscesses, which may mimic arthritides.
Acute Disease↗
Long-term outcome for the mothers of infants with isolated congenital complete heart block: comment on the article by Julkunen et al.
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Adult↗
CD4+ and CD8+ subsets: naive and memory cells in the peripheral blood of patients with systemic sclerosis.
Systemic Sclerosis (SSc; scleroderma) is associated with several immunological abnormalities, including altered proportion between lymphocyte subsets. Peripheral blood lymphocyte subsets from 25 patients with SSc were studied by two-colour flow cytometry using monoclonal antibodies against CD45RA and CD29 markers, which allow a dissection of CD4+ and CD8+ populations into 'naive' and 'memory' subsets. A decrease of the percentage of CD8+ (p < 0.05) and of CD8+CD29+ (p < 0.001) cells was observed compared to that in 20 age and sex-matched controls. These abnormalities were not significantly associated with the extension of cutaneous disease or other clinical features of SSc nor with treatment, pattern of autoantibodies or HLA phenotype.
Adolescent↗
Antinuclear antibodies are not induced by PUVA treatment in patients with uncomplicated psoriasis.
BACKGROUND: Previous investigations of antinuclear antibody (ANA) prevalence in patients undergoing PUVA therapy reported contrasting results. However, ANA tests were performed on low-sensitivity substrates that do not allow investigation of anti-Ro (SS-A) antibodies. OBJECTIVE: We assessed ANAs on a highly sensitive substrate. METHODS: ANAs were assayed on HEp-2 cells at regular intervals in 238 patients with psoriasis who were treated with PUVA therapy for 1 to 5 years and in 118 untreated control subjects with psoriasis. In addition, radioimmunoassay and counterimmunoelectrophoresis studies of anti-DNA and anti-extractable nuclear antigen antibodies were performed. RESULTS: Low titers of ANA developed in three patients in at least two consecutive determinations and in 10 patients in a single determination despite continuing treatments. The positive conversion rate was not statistically significant. Radioimmunoassay counterimmunoelectrophoresis studies of anti-DNA and anti-extractable nuclear antigen antibodies were never positive. CONCLUSION: In our experience PUVA therapy does not represent a risk factor for the induction of anti-Ro antibodies and other ANAs.
Adolescent↗
Deforming arthropathy of the hands in systemic lupus erythematosus is associated with antibodies to SSA/Ro and to SSB/La.
Thirteen patients with systemic lupus erythematosus and deforming arthropathy (DA) of the hands were compared with 111 patients with SLE without deforming arthropathy. Clinical features were comparable in the two groups. Patients fulfilling criteria for mixed connective tissue disease (MCTD) were not included in the present study. A higher prevalence of antibodies to SSA/Ro (P < 0.0125) and SSB/La (P < 0.004) were found in the SLE-DA group. The detection of antibodies to SSA/Ro and SSB/La was even more strictly associated with DA in SLE antibodies to SSA/Ro alone (P < 0.002). Regarding the fine specificity of anti-SSA/Ro, a prevalent response to the 52 kD protein of the Ro antigen was found. We conclude that patients with SLE developing deformities of the hands belong to a subset of patients with circulating antibodies to SSA/Ro, particularly to the 52 kD component, and to SSB/La.
Adolescent↗
Immunological investigation for sensorineural hearing loss in the otologic clinic: preliminary reports.
The identification of a possible autoimmune etiology for a sensorineural hearing loss (SNHL) is essential for a successful medical treatment. Confirmation of diagnosis in clinically "high-risk" patients is provided by antigen-specific tests, which are not easily obtainable on a routine basis in the otologic clinic; on the other hand the reliability of non-specific-antigen tests is questioned. The outcome of serological tests in a group of patients with possible autoimmune SNHL were compared with those obtained in two control groups, one of normal subjects and one with systemic autoimmune disorders. The test battery included the dosage of circulating aspecific autoantibodies (anti-nuclear, anti-perinuclear factor, anti-mitochondrial, anti-smooth muscle), the total haemolytic activity (CH50), the immunoglobulin fractions and the aspecific inflammation indexes. At the p level of 0.05, none of the findings reached statistical significance, except for low CH50 in 31% of SNHL patients. Complement consumption is an indirect indicator of the presence of immunocomplexes. The serum dosage of the total haemolytic activity is suggested as screening. Investigation to detect circulating immunocomplexes is to be extended to patients with low CH50 levels.
Adolescent↗
Clinical heterogeneity of rheumatoid arthritis and the antiperinuclear factor.
OBJECTIVE: To assess the diagnostic and prognostic power of antiperinuclear factor (APF) and to identify a specific pattern of rheumatoid arthritis (RA) of different evolution and prognosis. METHODS: One hundred and fifty-nine sera from patients with RA, 280 sera from patients with other rheumatic diseases and 204 sera from healthy subjects were examined for APF. RESULTS: Sensitivity and specificity of the test were, respectively, 0.82 and 0.99 when 1:80 serum dilution was considered positive but 0.84 and 0.92 when tested at the currently used 1:5 serum dilution. According to the data obtained from APF and rheumatoid factor (RF) testing, patients with RA were subdivided in 4 groups. Clinical and demographic features for each group were analyzed. RF+ and/or APF+ patients showed a common pattern of disease, whereas RF-/APF- patients showed fewer extraarticular manifestations (p < 0.02) including Sjögren's syndrome (p < 0.04) and an unusual onset of the disease characterized by an involvement of large joints (p < 0.0001). Higher titer of APF was detected at the onset of the disease than in longstanding RA (p < 0.02). CONCLUSIONS: APF is a valuable diagnostic tool and a useful additional marker for RA. 1:80 serum dilution allows more specificity without substantial loss of sensitivity. A specific pattern of RA can be identified on the basis of APF status.
Adolescent↗
Freeze-fracture characterization of cell types at the surface of the taste organ of the frog, Rana esculenta.
The ultrastructure and distribution of intramembrane particles in the chemoreceptor surface of the frog taste organ have been studied by means of freeze-fracture. Sustentacular, wing, mucous cells and two different types of putative taste cells were found to reach the free surface of this chemoreceptor. Each of these cell types was characterized by a different pattern and density of intramembrane particles in the free surface. Wing cells displayed a relatively low number of large intramembrane particles (11.1 +/- 1.4 nm in diameter). Particles of similar size were also present in a much higher concentration in the membrane of cylinder-ending putative taste cells. In microvilli-ending putative taste cells, mucous cells, and sustentacular cells, small intramembrane particles were observed (6.8 +/- 0.78, 6.9 +/- 1.3, 7.2 +/- 0.7 nm in diameter, respectively). The density of these particles was higher in the sustentacular cells than in the other two cell types. These data provide evidence that there are two morphologically distinct types of putative taste cells in the frog taste organ, demonstrating that they are characterized by different pattern of intramembrane particles in their free surface. Furthermore, the present results support previous findings indicating that wing and sustentacular elements represent two different cell types.
Animals↗
[The hand in hematologic diseases].
Radiography of the hand often reflects the picture of generalized diseases, affecting both the muscolo-skeletal system and the others. Some of the most common hematologic disorders may be detected in roentgenograms of the hand, especially in the anemias, but also in plasma cell dyscrasias and proliferative malignant diseases (i.e., lymphomas and leukemias). On the basis of their experience, the authors have reviewed and discussed the radiographic "pattern" of the hand in several hematologic conditions (i.e., anemias; thalassemias; sickle-cell disease; lymphomas; multiple myeloma; etc.), and their pathogenesis. Radiographies of both the hands, in antero-posterior view, were performed using Kodak-Min R film; xeroradiography was performed--in the same projection--using Rank Xerox plate, developed always in "positive mode" in 125 Rank Xerox System, conditioned with contrast "D", for emphasizing osseous details. Recently, digital radiography--employing PCR system--has substituted xeroradiography, because of its well-known properties and diagnostic advantages: in this manner, changes in bone and soft tissue are demonstrated on the same image, with augmentation of diagnostic information, with reduced dose to patient. In our series, hand is always involved (100% of cases) in thalassemias: lesions are characterized by diffuse osteopenia (washed out melted appearance), with widening of bone marrow space, diaphyseal convex aspect of the long bones, thinning of the cortex, and cyst-like changes (rain drops). Lesions disappear completely after the hypertransfusion regimen (HTR). Following chelation therapy, lesions of the wrist and hand are similar to those described in rickets and/or scurvy. Sometimes, the hand is characteristically affected in sickle-cell disease--particularly in the so called hand-foot syndrome--as "cone-deformity". In multiple myeloma incidence of hand involvement is 2.9%: lesions reflect general abnormalities observed in other skeletal sites, and they consist in multiple well-circumscribed lytic lesions. In amyloidosis, poorly defined radiolucent areas may be discovered. In non-Hodgkin lymphoma, incidence of hand involvement is less frequent, approximately 0.2%: the radiographic pattern is aspecific (mottled lytic lesions), sometimes simulating multiple myeloma and/or leukemias. In hemophilia, swelling of soft tissues, around the interphalangeal joint, related to intra-articular and/or per-articular hematoma, is observed. The other conditions reflect general radiographic features of anemias, which are of three main types: 1. the over active marrow (i.e., polycythemia); 2. the infarction of bone (i.e., sickle-cell disease); 3. non-specific findings, resulting from chronic illness (delays of maturation; dwarfism; osteopenia; tendency to infection).
Adolescent↗
Antiphospholipid syndrome and glomerular thrombosis in the absence of overt lupus nephritis.
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Adult↗
[The radiology of osteogenesis imperfecta].
The term "osteogenesis imperfecta" refers to a heterogeneous group of hereditary diseases characterized by osteopenia, increased bone fragility, blue sclerae and dentinogenesis imperfecta. The abnormal synthesis of type-I collagen is responsible for the pathologic changes occurring not only in bone, but also in skin, tendons and ligaments, sclerae and teeth. The clinical and radiographic features of 5 cases (2 males and 3 females; age range: 1 month to 29 years) were analyzed. The patients were unrelated with each other. The diagnosis of the different types of osteogenesis imperfecta is as difficult as the identification of the various genotypes which are responsible for the different clinical pictures. The most characteristic radiographic pattern--which is observed in any type of the disease--consists in osteopenia associated, in most cases, with multiple fractures and deformities--e.g., micromelia, large metaphysis, archon long bones. Typically, "pop corn" calcifications are observed in both epiphysis and metaphysis of long bones. Dentinogenesis imperfecta is one of the most significant clinical patterns, and it can be the only bone abnormality. The prognosis of osteogenesis imperfecta is as varied as its genetics--i.e., the fractures discovered at birth are not necessarily a negative prognostic sign.
Adolescent↗
[Diffuse idiopathic skeletal hyperostosis. Review of diagnostic criteria and analysis of 915 cases].
DISH is a common systemic skeletal disease, probably of dysmetabolic and/or degenerative origin, yet of unknown etiology. It is observed in middle-aged or elderly patients of both sexes, and is characterized by ossification of the anterior longitudinal ligament on the antero-lateral aspect of the spine, and by ossifying enthesopathy, in both the central and the peripheral skeleton. Diagnosis is solely based on radiographic abnormalities, according to the so-called Resnick criteria. In the present study, the spines of 915 patients (414 males, 501 females, mean age: 65 years) were considered, and the peripheral entheses (heel, patella and elbow) of 494 of them (234 males and 260 females). The incidence of DISH was 14.09% (129 cases): 17.6% in males (73 cases) and 11.7% in females (56 cases). DISH strikes in the VI and VII decades of life most. The most affected sites of the spine were: the dorsal portion (100%), especially in the D7-D11 segment (93%); the lumbar spine in L1-L3 (81%), and the cervical spine, in the C5-C7 segment (69%). Peripheral areas of involvement were: pelvis (90%), heel (76%), elbow (46%) and knee (29%). The symptoms of DISH must be promptly detected: the disease is not asymptomatic, but presents with pain and stiffness in the spine, recurrent tendinitis and bursitis, and myelopathy.
Adult↗
[Bone disease in multiple myeloma. A study of 237 cases].
From 1984 to 1990 the authors reviewed the radiologic-clinical charts of 237 patients affected with multiple myeloma (MM). The series included 127 males and 110 females (mean age: 66 years) who had been classified according to Durie and Salmon clinical criteria. All the patients underwent X-rays of the skeleton, as recommended in international literature; moreover, 148 subjects underwent whole-body bone scintigraphy, and 130 bone marrow scintigraphy. A selected group of cases (18 male/female patients) were submitted to bone densitometry employing both quantitative computed tomography (QCT) and dual-energy X-ray absorptiometry (DXA). The results follow: 1) in the first stage of the disease, a high number of patients (29.5%) exhibits no skeletal abnormalities on X-rays; the most common lesion locations include the spine (49%), skull (35%), pelvis (34%), ribs (33%), humeri (22%), femora (13%) and mandible (10%); 2) the most frequent pattern is osteolysis, as a characteristic "punched-out" multiple lesion; the second most frequent lesion is osteopenia (43%), especially in the spine; pathologic fractures are common (54%) in the ribs, vertebral bodies, limbs; typical associations of features and sites are seen on X-ray images, which sometime make diagnosis easier; 3) whole-body scintigraphy, revealing aspecific uptake only in the presence of pathological fractures, is not recommended in the first staging of the disease, but is considered as a valuable technique in the follow-up, when the patients become symptomatic; 4) bone marrow scintigraphy, especially in the "marrow expansion" pattern, might be considered as an attempt made by the body to recover the central space which was destroyed by myelomatous involvement. The prognostic value of this technique is still to be assessed; 5) bone densitometry, by confirming the grade of osteopenia, reveals that osteoporosis is a peculiar pattern of bone disease in MM, which is not related to age only; 6) conventional radiography of the skeleton is the method of choice in the diagnosis of lytic areas of MM, and remains, as yet, irreplaceable. The other diagnostic techniques--i.e., CT and MRI--can be used to evaluate the extent of bone and soft tissue involvement, in the cases with questionable diagnosis, and to assess the degree of marrow involvement.
Absorptiometry, Photon↗
The vomeronasal organ in the frog, Rana esculenta. An electron microscopy study.
The ultrastructure of the vomeronasal organ (Jacobson's VNO) of the frog, Rana esculenta, was studied under the transmission and scanning electron microscope. Four cell types were identified: ciliated, bipolar, glial-like, and basal. Ciliated cells are unique to the frog VNO and show morphological evidence of secretion; bipolar (neuronal) cells are arranged in columns and reach the free surface of the epithelium with knobs bearing microvilli. The latter are in contact with amorphous material not described previously. Glial-like cells wrap bipolar cells in the epithelium and poorly differentiated basal cells are found just over the basal lamina. The vascular pump described in mammal VNO is not present at all in the frog VNO. We conclude that in the frog the VNO is closer to the reptilian than the mammalian VNO, although the frog VNO shows some unique morphological characteristics.
Animals↗