Antiphospholipid syndrome associated with progressive systemic sclerosis

Hemifacial spasm is a neurological disorder due to abnormal hyperactivity of the facial nerve. The most common cause of hemifacial spasm is a neuro-vascular conflict in the cerebellopontine angle between a vascular loop and the root of the facial nerve (96% of cases). Tumors are the cause of hemifacial spasm in only 1% of cases). The authors present their results in 100 patients who underwent microvascular decompression for essential hemifacial spasm between 1990 and 1995. They used microsurgical and endoscopic procedures by a minimal retrosigmoid approach in all cases. The most common offending vessels were the posterior inferior cerebellar artery (70%), the vertebral artery (41%) and the anterior inferior cerebellar artery (28%). An aberrant vein was found in 2 cases. There were 38% of multiple artery-nerve conflicts. Physiopathology of hemifacial spasm is explained by two principal theories: in the ephaptic theory, hyperactivity and an abnormal nervous impulse pathway are due to a short demyelinated area on the nerve trunk caused by the offending vessel, inducing short circuiting between adjacent nerve fibers. In the nuclear theory, hyperactivity of the facial nerve is due to an abnormal and automatic activity of the facial nerve nucleus itself, induced by the vessel. The authors used pre and postoperative electromyographic tests and intraoperative electromyographic tests. Their results tend to prove the nuclear theory. Ninety per cent of the patients had a good result, with a mean follow-up time of 30 months in 60 cases. In 82% of the cases, there was a total recovery after a single procedure. There was no mortality and no facial palsy. Hearing loss occurred in less than 5%.     

Cardiac disorders associated with progressive systemic sclerosis]

PURPOSE: To study structural changes of the myocardium in relation to the time of nitric oxide synthesis inhibition. METHODS: Four groups of 10 rats each were studied: 2 control groups and 2 groups with administration of L-Name (50 mg/kg/day), one during 25 days and the other during 40 days. The animals were then sacrificed and the hearts were prepared for study in light microscopy, where sections strained by picro-sirius were studied with and without polarized light for analysis of the cardiac interstitium collagen. Volume densities of myocytes (Vv[m]) and interstitium (Vv[int]), the numerical density of myocytes (Nv[m]) and the mean cross-sectional area of myocytes were (A[m]) also determined. RESULTS: The L-Name animals were compared with the respective controls. In the L-Name rats, the tail arterial pressure increased 74.5 and 90.2% in the 25 days group and in the 40 days group, respectively. The heart weight increased 50% in the 25 days group and 28.6% in the 40 days group. The myocardium of the L-Name animals presented myocyte hypertrophy with increased A(m), perivascular and interstitial fibrosis, thickness of the tunica intima and tunica media of the intramyocardial arteries. In the 40 days group the L-Name animals had decreased Vv(m) and Nv(m) and increased Vv(int). CONCLUSIONS: Inhibition of nitric oxide synthesis provokes myocardial changes that progress with the time of L-Name administration. The stereology is useful to determine and to evaluate the myocardial changes in this model of arterial hypertension.     

A case study and national database report of progressive systemic sclerosis and associated conditions

We report the case of a 34-year-old white woman with a history of progressive systemic scleroderma (PSS) and diffuse alveolar hemorrhage (DAH) that may be either a rare complication of PSS or induced by D-penicillamine. The DAH progressed to hemoptysis and led to intubation for airway protection. The patient progressed to acute renal failure. Her chest x-ray revealed diffuse bilateral infiltrates. She developed pulmonary fibrosis with secondary pulmonary hypertension. She experienced a brief period of improvement of her respiratory status after steroid treatment. We also report a database of 21,442 decedents with PSS over a 15-year period from 1979 to 1994. Our report demonstrates that of over 21,000 decedents, only 0.2% had pulmonary hemorrhage or hemoptysis or both listed as a cause of death. The data also demonstrate that PSS was the underlying cause of death more frequently in younger people. Age-adjusted mortality rates were higher for blacks than for whites and for women than for men.     

A case of progressive systemic sclerosis associated with sarcoidosis and esophageal adenocarcinoma

To compare methods for diagnosing Bancroftian filariasis, six hundred and seventy four people from rural areas of Papua New Guinea were screened using microfilaraemia, the Og4C3 antigen capture ELISA, an ELISA to detect IgG4 specific antibodies and clinical examination. Both ELISA tests detected around twice the number of positive cases than those detected by the presence of microfilariae alone. No correlation was found with clinical signs and laboratory tests. This study raises concern over the underestimation of the prevalence of filariasis due to ineffective diagnostic criteria. The two ELISA tests should be of value in epidemiological surveys and for monitoring filariasis control programs.     

Symptomatic spinal calcinosis in systemic sclerosis (scleroderma)

Two patients with diffuse cutaneous systemic sclerosis and spinal calcification, involving the lumbar spine in one and the cervical spine in the other, are described. Computed tomography-guided aspiration of the calcific masses was performed, and material aspirated from one patient was shown to be apatite, Ca5(PO4)3OH. One patient showed improvement following lumbar laminotomy, hemilaminectomy, and diskectomy.     

Adenosine deaminase in progressive systemic sclerosis

The aim of the present study was to confirm the increase of adenosine deaminase (ADA) activity in progressive systemic sclerosis (PSS), described by Sasaki & Nakajima, and to compare plasma ADA activity of patients in different stages of the disease. Enzyme activity was measured with a colorimetric assay. The 48 patients were subdivided into 3 groups: subgroup 1 (n = 10), disease still limited to the skin; subgroup 2 (n = 21), involvement of the skin and oesophagus; and subgroup 3 (n= 17), involvement of the skin and multiple internal organs. ADA levels were highest in subgroup 3. However, the difference with respect to subgroup 2 did not reach statistical significance. Subgroup 1 was different from controls and subgroups 2 and 3 (p<0.001). Our results confirm that ADA activity is increased in PSS, and that this finding is observed even in the early stages of the disease process. We speculate that the increase in ADA, a well-known marker of T-cell activation, might be an indicator of disease activity in PSS, in the beginning as well as during phases of exacerbation in later stages of the disease.     

The effects of warfarin on calcinosis in a patient with systemic sclerosis

We describe the use of low doses of warfarin to treat calcinosis in a patient with systemic sclerosis or CREST syndrome. Our patient had Raynaud's phenomenon, skin sclerosis of the neck and the distal surface of the elbows, and pitting ulcers and scarification of the fingers as well as cutaneous calcinosis. After beginning warfarin, no calcium containing substance was discharged from the fingertip ulcers. There was no tendency to bleed and activated partial thromboplastin time and prothrombin time were normal. Sequential radiographs of the hands showed that calcinosis had improved. Since there seem to be few adverse effects, the use of warfarin in patients with calcinosis warrants further study.     

Atrial conduction abnormalities in patients with systemic progressive sclerosis

BACKGROUND: Atrial abnormalities in patients with progressive systemic sclerosis have not been evaluated in terms of intra-atrial conduction. We hypothesized that a delay in atrial conduction in these patients might produce diastolic abnormalities as well as atrial arrhythmias. OBJECTIVE: To evaluate the atrial function of patients with progressive systemic sclerosis by using echocardiography to measure the intra-atrial electromechanical activation coupling interval. METHODS: Twenty patients with progressive systemic sclerosis were assessed by Doppler echocardiography. Twenty age-matched healthy controls were also evaluated. Two-dimensional guided M-modes of ventricular long axes were recorded using simultaneous phono- and electrocardiograms of the apical four chamber view at the right lateral, septal and left lateral sites of the atrioventricular rings. Transmitral and tricuspid pulsed Doppler flow velocities were also recorded. Filtered P wave duration was measured on the signal averaged ECG to determine the duration of atrial electrical activation. RESULTS: There was a delay in P on the electrocardiogram (P) at the onset of atrial contraction on long axis M-modes at all three atrioventricular ring sites in patients with progressive systemic sclerosis as compared with controls (P-right; 56 +/- 13 vs 47 +/- 10 ms, P-septal; 74 +/- 14 vs 55 +/- 10 ms, and P-lateral; 93 +/- 16 vs 72 +/- 11 ms, P < 0.01). Inter-atrial conduction time [(P-lateral)-(P-right)] was delayed in patients with progressive systemic sclerosis, compared with healthy controls (37 +/- 15 vs 25 +/- 6 ms, P < 0.01). Mitral A waves acceleration and deceleration times were also decreased in the patients. The interval was prolonged between P to the onset and the peak of the A wave in transmitral flow. Duration of the filtered P wave was significantly prolonged in progressive systemic sclerosis as compared with controls (124 +/- 12 ms vs 106 +/- 8 ms, P < 0.01). PQ intervals, E waves and acceleration and deceleration times did not differ significantly in progressive systemic sclerosis vs, controls. The A wave acceleration rate on transmitral flow (peak A wave velocity/acceleration time) showed a significant correlation with inter-atrial conduction delay (r = 0.55, P < 0.01). CONCLUSIONS: Intra-atrial electromechanical coupling intervals were delayed in patients with progressive systemic sclerosis. Thus, the mechanical late diastolic filling time due to atrial contraction in the total diastolic phase was severely limited, and this resulted in a restricted mitral A wave. We should therefore evaluate patients with progressive systemic sclerosis for significant atrial abnormalities.     

Sj?gren's syndrome in progressive systemic sclerosis

Thirty-five consecutive patients with progressive systemic sclerosis were prospectively evaluated for evidence of Sj?gren's syndrome. Six of the 35 (17%) were judged to have the disorder. This is a higher prevalence than in most reports, but much lower than that recently reportedly by Alarcón-Segovia and associates (7). An additional 17 of the 35 patients (48%) had significant fibrosis in the absence of sufficient mononuclear cell infiltrates to confirm the diagnosis of Sj?gren's syndrome. This group had particularly aggressive scleroderma with serious visceral features, and five died after a short duration of illness. No significant abnormalities were found in biopsies from six patients with the mixed connective tissue disease syndrome, five with Raynaud's phenomenon alone, or in 29 autopsy control subjects who had no evidence of connective tissue disease. Fibrosis in the absence of mononuclear infiltration in minor salivary glands of patients with progressive systemic sclerosis indicates a poor prognosis.     

Severe urinary bladder involvement in systemic sclerosis. Case report and review of the literature

Lower urinary tract involvement is an uncommon manifestation of systemic sclerosis; however, it may represent a troublesome disturbance affecting the quality of life in systemic sclerosis patients. Here we report the case of a middle-aged woman with a 5-year history of systemic sclerosis, who developed severe and progressive urinary bladder sclerosis. This report is particularly interesting because of the severity of the bladder involvement, which required surgical treatment.     

Cholestatic hepatitis associated with piroxicam use. Case report

A 81-year-old man who complained of fever and disturbance of consciousness was admitted to our hospital. Listeria monocytogenes type 1/2aA was cultured from only the blood. He was treated with gamma-globrine and sensitive antibiotics (PAPM/BP, EM) immediately after admission, and recovered in spite of multiple organ failure due to septic shock. He was not an immunocompromised host and did not have complication of meningitis, but had rhabdomyolysis and liver dysfunction.     

Evidence for cell-mediated immunity to collagen in progressive systemic sclerosis

The activities of glucose-6-phosphate dehydrogenase (D-glucose-6-phosphate: NADP oxidoreductase, G6PD), 6-phosphogluconate dehydrogenase (6-phospho-d-gluconate: NADP oxidoreductase, 6PGD), hexokinase (ATP:D-hexose 6-phosphotransferase, HK), lactic dehydrogeanse (L-lactate: NAD oxidoreductase, LDH) and aspirate aminotransferase (L-aspartate: 2-oxoglutarate aminotransferase, Asp.T) were determined in red blood cells of 11 healthy individuals. The determinations were carried out on samples drawn every 4 h over a 24 h period. The activities of G6PD, 6PGD, LDH and Asp.T exhibited a semi-circadian rhythm, namely, two peaks of activity during 24 h while HK activity demonstrated a true circadian rhythm. In addition a polymorphism of the G6PD and LDH activity patterns was observed. The implications of a biological clock in enucleated cells are discussed.     

Ultrastructural observation of platelets from patients with progressive systemic sclerosis (PSS)

We observed the ultrastructure of platelets from patients with PSS (7 cases; 48.2 +/- 12.3 y-old; M:F = 1:6_ and healthy controls (HC) (5 cases; 44.8 +/- 8.0 y-old; M:F = 1:4) by using transmission (TEM) and freeze-fracture electron microscopy (FEM). The open canalicular system (OCS) connected with the plasma membrane (PM) formed pinhole-like invaginations (50 nm in diameter) in the cleaved face (P-face) of the plasma membrane seen from the outside of the platelets and sharply elevated structures in the cleaved face (E-face) of PM seen from the inside of the platelets by FEM. The density of OCS on the surface of the platelets from PSS patients was 3 +/- 1/micron 2, which was higher than that from HC (1 +/- 0.5/micron 2) (p < 0.02). Dome-shaped structures, which clearly differ from OCS and were 80-150 nm in diameter without intramembranous particles, were seen in the P-face, and the complementary depressed structures were seen in the E-face. These structures were thought to be vesicles fused onto the PM of the platelets. The total volume of platelets (7.62 +/- 0.11 micron 3), total volume of granules (0.79 +/- 0.01 micron 3) and vacuoles including OCS (0.78 +/- 0.05 micron 3), and the total surface area of platelets (17.25 +/- 1.30 micron 2) from four PSS patients calculated by the morphometrical method were similar to those from four HC (7.32 +/- 0.25 micron 3, 0.76 +/- 0.03 micron 3, 0.80 +/- 0.05 micron 3, 18.75 +/- 0.35 micron 2, respectively); there were no statistical significances between the data from PSS patients and HC. The total volumes of vacuoles in platelets from both PSS patients and HC significantly decreased after a 2 min-vibration stress of the hands (p < 0.02) and the total volume of granules in platelets from PSS patients decreased significantly after the same stress (p < 0.002), although that from HC showed no similar significant change. However, there were no statistically significant differences in total volume or total surface of platelets from PSS patients and HC after the stress. These data may suggest that depletion of granules occurred due to activation of platelets from PSS patients following a secretion of their proteins, because their plasma protein levels were elevated after the stress (Jpn J Dermatol, 98; 1205, 1988). Higher density of OCS on the surface of the platelets from PSS patients may play an important role in secretion of their proteins, although the detailed mechanism of secretion of specific proteins derived from platelet granules is still unknown. These ultrastructural abnormalities of platelets may correlate with some involvement of a platelet disorder and with a possible role for the activation of platelets from PSS patients.     

Squamous cell carcinoma of the skin associated with systemic sclerosis

BACKGROUND: The coexistence of sclerosis and cancer has been recognized with increasing frequency. However, squamous cell carcinoma of the skin associated with systemic sclerosis is relatively rare. OBJECTIVE: The mechanisms of malignancy in systemic sclerosis are discussed. METHODS: An 18-year-old girl with progressive systemic sclerosis is described. RESULTS: The patient had developed squamous cell carcinoma of the skin on the sclerosed skin of her left leg requiring amputation. The tumor recurred on the distal end of the stump. Local radiotherapy was unsuccessful. CONCLUSION: This report suggests that sclerosis of the skin may manifest a greater risk of developing skin cancers unrelated to chronic injury or scarring of the skin.     

Giant intracranial aneurysm associated with Marfan's syndrome. Case report

The authors describe a giant intracranial internal carotid aneurysm in a patient with Marfan's syndrome. Treatment consisted of internal carotid ligation with subsequent thrombosis of the lesion. The patient's course was complicated by carotid arterial dissection and possible laminar thrombosis within the aneurysm increasing the size of the lesion. Three clinical syndromes, Marfan's, Ehlers-Danlos, and pseudoxanthoma esasticum, are discussed. The literature is reviewed with reference to the hazards of treatment of vascular pathology in patients with these connective tissue disorders.     

Increased sensitivity of the cough reflex in progressive systemic sclerosis patients with interstitial lung disease

Cough is a common presenting symptom of interstitial lung disease (ILD). The aim of this study was to examine the cough reflex in patients with progressive systemic sclerosis (PSS), with and without associated ILD. The cough reflex to inhalation of chloride deficient solutions and capsaicin was determined in patients with PSS with associated ILD (n=12), compared to patients with PSS without ILD (n=12). In addition, patients with a chronic dry cough (n=12) and healthy subjects (n=10) without cough were studied. Cough responses to inhalation of isotonic solutions containing 150, 75, 37.5 and 0 mM Cl- ions and of capsaicin (0.9-500 mM) were measured. PSS patients with ILD reported a significantly higher cough score than PSS patients without ILD (p<0.03). ILD patients coughed more than those without ILD to Cl- of 37.5 and 0 mM (19.1+/-5.0 vs 6.2+/-1.9 coughs x min(-1) (p<0.03), and 29.2+/-5.0 vs 14.1/-4.1 coughs x min(-1) (p<0.04), respectively). The log concentration of capsaicin causing two or five coughs was lower in PSS with ILD compared to PSS without ILD (0.74+/-0.15 mM vs 2.12+/-0.26 mM; p<0.002). Patients with chronic dry cough had a similar degree of response to low-chloride and capsaicin solutions as patients with PSS and ILD, whilst healthy controls had a similar degrees of response to PSS patients. There is an increased cough reflex in patients with interstitial lung disease, which may represent sensitization of airway sensory nerves. This may be the basis for the chronic dry cough in patients with interstitial lung disease.     

Effect of progressive systemic sclerosis on antral myoelectrical activity and gastric emptying

In patients with progressive systemic sclerosis (PSS) suffering from chronic dyspepsia the stomach may be affected by this disease. The objective of this study was to investigate both antral myoelectrical activity and gastric emptying in PSS patients. Electrogastrography (EGG) was performed in 17 PSS patients (16 female, one male, median age 58 years, range 32-74 years) with chronic dyspepsia. After an overnight fast during one hour in the fasting and one hour in the fed state after ingestion of a liquid-solid test meal (370 kcal; liquid phase labeled with 0.5 mCi 99mTc-colloid) antral electrical activity was measured by one pair of electrodes sonographically placed on the skin overlying the gastric antrum. Several EGG parameters including dominant frequency (DF), percentages of DF in the normal range (2-4 cycles per minute [cpm]), bradygastria (< 2 cpm) and tachygastria (4-10 cpm), dominant frequency instability coefficient (DFIC), and postprandial to preprandial power ratio (PR) were calculated. The data were correlated to results obtained in 20 age- and gender-matched healthy subjects. In addition, the data were compared to gastric retention of the radionuclide at 60 min measured by simultaneous scintigraphy. The PSS patients did not reveal electrical disturbances. They even exhibited a significant postprandial decrease in DFIC, bradygastria, and tachygastria (ns) compared to healthy subjects. Over 50% of the PSS patients showed a delayed gastric emptying. However, EGG did not correlate to radioscintigraphy significantly. Our results reflect an absent relationship between antral myoelectrical activity in EGG and gastric emptying. Therefore, electrogastrography is unsuitable to assess gastric involvement in PSS.     

Subependymal giant-cell astrocytoma associated with tuberous sclerosis: case report

Tuberous sclerosis is a neurocutaneous syndrome with a wide variety of clinical, pathologic, and radiologic manifestations. Intracranial phakomatosis has been reported to include subependymal nodules; cortical tubers, and subependymal giant-cell astrocytomas. Subependymal giant-cell astrocytomas are rare, benign brain tumors of unknown histogenesis which cause increased intracranial pressure, seizures, and focal neurologic signs. The only treatment of these tumors is total surgical removal, because they are not sensitive to irradiation and chemotherapy. We report a patient with tuberous sclerosis who underwent surgery for a large subependymal giant-cell astrocytoma.