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Biomedical subjects

P Garzia

Publications and source records attributed to P Garzia.

15 recordsLinked to original sources
PubMed1999

Primary antiphospholipid syndrome and cerebral atrophy: a rare association?

Neurologic complications are common in patients with antiphospholipid syndrome. In this article, we report the case of a young woman with neurologic disorders, a history of hypertension and transient ischemic attacks, and cerebral atrophy associated with primary antiphospholipid syndrome (PAPS). Magnetic resonance imaging of the brain showed multiple ischemic lesions and remarkable atrophy of frontal and parietal lobes. Cerebral atrophy in patients with PAPS can be considered as a feature of this disease. The case is discussed on the basis of relevant past literature. Although there are few reports on neuroradiologic findings in patients with PAPS, cerebral atrophy has been described. Because PAPS is more frequently recognized today than in the past, this condition should be included in the differential diagnosis of cerebral atrophy, particularly in young patients.

Adult↗
PubMed1999

Linear growth and skeletal maturation in subjects with treated celiac disease.

BACKGROUND: The aim of this study was to report on the long-term growth and development in a group of treated patients with celiac disease. METHODS: The study includes 26 patients (11 boys and 15 girls) with typical celiac disease who were younger than 2.5 at diagnosis and were followed by means of a growth longitudinal monitoring from the introduction of a gluten-free diet (mean age, 1.7 +/- 0.5 years) until adulthood, over a median period of 15.3 years. Growth indicators used were: height, skeletal age, weight and BMI. RESULTS: At the time of admission, the patients had a general tendency to short stature, underweight and retarded skeletal maturation. They did not catch up completely in height and skeletal age after a dietary treatment period of 3 years. Most of them were seen to be slightly below average height for age during childhood and adolescence with skeletal maturity retardation, even if a fairly large interindividual variation of height profiles was evident. CONCLUSIONS: Notwithstanding the early treatment, the careful follow-up, and the good adhesion to the dietary rules of the patients under study, slight negative effects of the disease on growth were not avoided.

Body Height↗
PubMed1998

Subclinical visual impairment in phenylketonuria. A neurophysiological study (VEP-P) with clinical, biochemical, and neuroradiological (MRI) correlations.

During detailed visual function testing, pattern-reversal visual evoked potentials (VEP), generated by different spatial frequencies (3 c/d, 1 c/d and 0.6 c/d) and visual contrasts (100% and 10%) were recorded in 21 adolescent and young adult phenylketonuric (PKU) patients (11 females and 10 males; mean age 14.8 years, range 9-22.8) on and off diet. In 14 of the 21 patients, disease had been detected at neonatal screening and in 7 later. Ten age-matched healthy subjects acted as controls. Recordings in more than 40% of eyes in the whole group and 30% of eyes in the screening subgroup showed a prolonged P100 latency. All visual pattern stimuli elicited a significantly longer P100 latency in PKU patients than in controls. VEP latencies to 3 c/d, 1 c/d and 1 c/d with 10% contrast--but not to 0.6 c/d--were longer in patients off diet than in patients on diet. No differences were found between VEP latencies in early- and later-detected subjects. To study the link between biochemical variables and VEP latencies, we envisaged either a linear relationship between recent exposure to phenylalanine (Phe) and VEP abnormalities or a threshold model considering phenylalanine (Phe) concentrations among the factors influencing VEP latencies. The correlation analysis detected an association between plasma Phe concentrations and abnormal VEP latencies, predicting that plasma Phe concentrations > 901 mumol/L would prolong VEP latencies to 1 c/d; concentrations > 879 mumol/L would prolong latencies to 3 c/d; and concentrations > 898 mumol/L would prolong latencies to 1 c/d with 10% contrast.

Adolescent↗
PubMed1998

Long-term follow-up of skeletal dysplasia in thalassaemia major.

We report skeletal changes due to deferoxamine (DF) in 15/29 patients with transfusion-dependent thalassaemia major (TM), followed longitudinally for growth assessment. Clinically the earliest signs were decline in height and/or sitting height growth rate, leg and back pain with restricted movement and limb deformity. Radiologically metaphyseal and spinal changes were seen in 5 subjects and vertebral lesions alone in 10. The metaphyseal changes were mild, moderate or severe and affected all long bones, but were most pronounced at wrists and knees. They progressed from widening of the growth plate and defects of metaphyseal margins to appearance of radiolucent pseudocystic areas and, in severe cases, of cupped, rickets-like metaphyses. The spinal changes proceeded from osseous defects of ventral upper and lower edges of vertebrae and biconvex contours of end-plates to platyspondyly with decreased vertebral body height. After DF dose reduction, metaphyseal changes regressed in 2 patients, while they progressed in 3, requiring corrective surgery for severe valgus knee. Spinal abnormalities either remained unchanged or progressed. Final height was very short in patients with spondylometaphyseal lesions, short and disproportionate in patients with only spinal involvement.

Adolescent↗
PubMed1997

Systemic lupus erythematosus and multiple myeloma: a rare association.

OBJECTIVE: The association of systemic lupus erythematosus (SLE) and multiple myeloma (MM) is an uncommon event. We report the relapse of SLE in a patient with a previous history of MM, treated with chemotherapy and, subsequently, with alpha-2b interferon (alpha-2b IFN) as a maintenance therapy. The case is discussed in light of past relevant literature. METHODS: The history and clinical, laboratory and radiographic findings of the patient, as well as the subsequent therapeutic approach are discussed. In our review of the literature, journal articles are identified by Medline search. RESULTS: We describe the case of a woman who developed a multiple myeloma 14 years after a diagnosis of SLE. A careful literature review confirms that the association of these two diseases has been reported only in a few cases. When the plasma cell neoplasia occurred, SLE had been quiescent for several years; the patient was treated with prednisone-melphalan and, subsequently, with alpha-2b IFN as a maintenance therapy. On admission to our department, SLE was in a relapse phase, probably because of IFN treatment. The disease was poorly responsive to steroid therapy and required the use of cytotoxic drugs. CONCLUSIONS: The coexistence of SLE and MM is very rare and the possible pathogenetic mechanisms underlying this association remain unclear. The use of interferon in a patient with an autoimmune disease always invites caution.

Antineoplastic Agents↗
PubMed1997

Hashimoto's thyroiditis associated with urticaria and angio-oedema: disappearance of cutaneous and mucosal manifestations after thyroidectomy.

A 60 year old woman affected by Hashimoto's thyroiditis presented with a history of recurring episodes of urticaria and angio-oedema. Clinical and laboratory evaluation of the patient excluded allergy to external agents, hereditary angio-oedema, and occult infections. A pathogenic relation between Hashimoto's thyroiditis and chronic urticaria/angio-oedema was suspected. However, treatment with L-thyroxine had no influence on the frequency and severity of the cutaneous and mucosal manifestations, which occurred almost daily and required repeated administration of steroids. The patient therefore underwent total thyroidectomy. Cytometric analysis of intrathyroidal lymphocyte subsets showed unusual abnormalities. Urticaria and angio-oedema completely remitted after surgery; 18 months postoperatively the patient was still asymptomatic.

Angioedema↗
PubMed1993

[Educational maladjustment: relational aspects].

Educational maladjustment is approached from a systemic point of view and the pupil's problems are therefore considered as the indication of a malfunction in the child-teacher-parent system. The possibilities of using psychotherapy are examined through the analysis of three case reports.

Adaptation, Psychological↗
PubMedDate not supplied

CD5 B cells in autoimmune and non immune-mediated thyroid dysfunctions.

In a previous study we demonstrated a significant increase of CD5+ B subset in patients with Graves' disease (GD) compared with normal controls. The aim of this study was to compare the percentage of CD5+ B and CD5- B cells in GD with that in different forms of autoimmune and non immune-mediated thyroid diseases. Seventy-two patients were studied: 28 patients with GD, 20 with silent thyroiditis (ST), 12 with Hashimoto's disease (HD), and 12 subjects affected by hyperthyroidism due to toxic adenoma (TA). Eleven out of 28 patients with GD were also evaluated after six months of methimazole treatment. The study was performed by cytometric analysis. In GD the percentage and the absolute number of CD5+ B cells were significantly increased compared with normal controls (42.5 +/- 18.2% versus 19 +/- 6.3%, p < 0.0001; 142 +/- 153.3/cmm versus 46.9 +/- 22/cmm, p < 0.003, respectively. CD5+ B cells tended to normalise after six months of treatment. In ST the percentage of CD5+ B cells was increased (28.6 +/- 10.2%); conversely the absolute number was in the normal range. Patients affected by HD did not show any significant modification in B cells and their subsets in comparison with controls. In TA, CD5+ B were 7.6 /- 4.4% and 14.3 /- 10.9/cmm. Our results demonstrated a marked increase in both percentage and absolute number of CD5+ cells, only in active GD. The expansion of CD5+ B cells could play a role in the immune imbalance present in this disease.

Adenoma↗
PubMedDate not supplied

Pathophysiology, clinical features and management of hepatorenal syndrome.

Hepatorenal syndrome (HRS) is a form of functional renal failure occurring in patients with advanced liver disease. Hypoperfusion of the kidney, due to renal vasoconstriction, is the main feature of HRS. Conversely, the extrarenal circulation is characterized by low systemic resistance, especially occurring in splanchnic vessels, and arterial hypotension. It has been postulated that renal vasoconstriction is induced either by a hepatorenal reflex related to the diseased liver or by arterial vasodilation and the subsequent baroreceptor-mediator activation of systemic vasoconstrictor factors. The diagnosis of HRS requires the exclusion of other causes of renal failure in patients with liver disease. On the basis of clinical and prognostic differences, two types of HRS have been defined. The prognosis of HRS is poor and, to date, the only effective treatment is the liver transplantation.

Hepatorenal Syndrome↗
PubMedDate not supplied

The infrequent association of synchronous renal and colonic malignancies.

The coexistence of both kidney and colon primary malignancies is a rare condition. We report the case of a 75-year-old woman who presented with bilateral pulmonary nodules at chest X-ray and stratigraphy. Total-body CT scan showed multiple, apparently metastatic, bilateral pulmonary lesions, a diffusely dysomogeneous neoformation in the lower pole of the right kidney and a gross neoformation in the ascending colon. A right nephrectomy and a right hemicolectomy were performed and histology showed two primary neoplasms: clear cell renal carcinoma and undifferentiated adenocarcinoma of the colon.

Adenocarcinoma↗
PubMedDate not supplied

[The fragile X chromosome and psychiatry].

The importance of X fragile chromosome in mental retardation is outlined. Two male patients with a low IQ are studied. They were brothers and their mother too was non mental retarded cytogenetically X fragile positive.

Adult↗
PubMedDate not supplied

Hypertension and menopausal syndrome: effects of hormone replacement therapy and antihypertensive drugs.

Arterial hypertension is a common finding in climacteric women even though the role of reduced estrogen levels in promoting this condition remains unclear. The purpose of the present survey was to evaluate the effects of hormone replacement therapy in hypertensive postmenopausal women. 180 patients were studied; they had been postmenopausal for 12-18 months and afflicted with mild or moderate essential arterial hypertension for less than 2 years. Patients were randomly divided into two groups and treated with progestin-estrogen therapy (group I, 96 patients) or with antihypertensive drugs (group II, 84 patients). Fourty-one cases in group I (42.7%) responded adequately to hormone therapy with persistent normalization of blood pressure levels; antihypertensive drugs were effective in 61 patients in group II (72.5%). The 23 unresponsive patients in group II were subsequently treated with progestin-estrogen therapy and a normalization of pressure values was achieved in 10 of these (43.5%). These results suggest that hormonal treatment determines, in at least one third of the cases, a significant reduction in blood pressure values. Moreover, hormone replacement may be effective even in patients that have not responded to antihypertensive drugs.

Adult↗