A case of tetrasomy 9p

A case of mosaic 9p tetrasomy (46,XX/47,XX, + dic[9] [q21]) is reported. Clinical manifestations of the patient were generalized hypotonia, severe mental retardation and characteristic dysmorphic features of 9p tetrasomy. A brief review of the literature is also included.     

Long-term prognosis and prognostic factors of liver cirrhosis in the 1980s

Abstract The prognosis of 174 patients with cirrhosis during the 1980s (1981–89) was analysed. The estimated survival rates were 87.3% in 3 years and 68.5% in 5 years. During the follow-up period, 58 patients died: 20 of hepatocellular carcinoma (37.7%); 11 of hepatic failure (20.8%); eight of gastrointestinal bleeding (15.1%); and 14 of other causes (26.4%). Multivariate analysis revealed that serum albumin, indocyanine green retention rate at 15 min and white blood cell count were significantly associated with prognosis. The results were also compared to our previous study covering the 1970s (1971–80). The estimated survival rate was significantly improved compared to that during the 1970s (54.3% in 5 years, P < 0.001). In the 1980s, hepatic failure mortality significantly decreased ( P < 0.01), and non-liver-related mortality significantly increased ( P < 0.05). In summary, the prognosis of cirrhosis has improved in recent years, and changes of death cause and prognostic factors were observed. It was concluded that to evaluate the severity and prognosis of cirrhosis, new indices and appropriate classification were necessary.     

Differential Response of QTU Interval to Exercise, Isoproterenol, and Atrial Pacing in Patients with Congenital Long QT Syndrome

Sympathetic stimulation is well known to contribute to the genesis of QTU prolongation and ventricular lachyarrhythmias in patients with congenital long QT syndrome. In this study, we performed exercise treadmill testing, isoproterenol infusion (1–2 μg/min), and right atrial pacing (cycle length 500 msec) in 11 patients with congenital long QT (LQT) syndrome (LQT group) and in 12 age- and sex-matched controls (control group). The responses of the corrected QT (QT_c; Bazett's method) interval and the TU wave complex tvere evaluated. The QT_c interval was prolonged from 482 ± 63 msec^1/2 to 548 ± 28 msec^1/2 by exercise in the LQT group (n = 11; P < 0.005), and this was associated with fusion of the T waves with enlarged U waves, whereas the QT_c interval did not increase with exercise in the control group (n = 12; 402 ± 19 msec^1/2 vs 409 ± 22 msec^1/2). The QT_c interval was also prolonged from 466 ± 50 msec^1/2 to 556 ± 33 msec^1/2 by isoproterenol in the LQT group (n = 7; P < 0.005) in association with morphological changes of the TU wave complex like those seen with exercise, whereas it was only slightly increased from 399 ± 10 msec^1/2 to 436 ± 13 msec^1/2 by isoproterenol in the control group (n = 77; P < 0.001). However, the QT_c interval did not increase with atrial pacing in the LQT group (n = 8; 476 ± 57 msec^1/2 vs 486 ± 59 msec^1/2), whereas it was slightly increased from 400 ± 21 msec^1/2 to 426 ± 18 msec^1/2 by atrial paring in (he control group (n = 8; P < 0.005). These results suggest that sympathetic stimulation plays an important role in the QTU prolongation and marked TU wave complex abnormalities in patients with congenital long QT syndrome.     

Diastolic Mitral Regurgitation in Patients with First-Degree Atrioventricular Block

Diastolic mitral regurgitation has been observed in patients with DDD pacemakers when the atrioventricular (AV) delay was prolonged. However, diastolic mitral regurgitation associated with first-degree AV block has not been fully studied. We examined transmitral blood flow in 24 patients with first-degree AV block and normal cardiac function (ages 35.3 ± 17.4 years), and in nine patients with DDD pacemakers and normal cardiac function (ages 73.1 ± 8.1 years), using pulsed Doppler echocardiography. Diastolic mitral regurgitation was observed in 19 of 24 patients with first-degree AV block. Although PQ interval was shortened from 0.32 ± 0.06 to 0.20 ± 0.05 seconds (P < 0.01) after 1 mg atropine sulfate IV, the interval between P wave (ECG) and the beginning of diastolic mitral regurgitation did not change, while the duration of diastolic mitral regurgitation was shortened from 0.15 ± 0.03 to 0.05 ± 0.03 seconds (P < 0.01). There was a significant correlation between changes in PQ interval and changes in the duration of diastolic mitral regurgifation (r = 0.92, P < 0.001). Although cardiac output (3.9 ± 0.05 L/min) and pulmonary capillary wedge pressure (5.1 ± 1.5 mmHg) were normal in all patients with pacemakers, diastolic mitral regurgitation was observed when the AV delay was prolonged. The critical PQ interval for the appearance of diastolic mitral regurgitation was 0.23 ± 0.01 seconds. In patients with prolonged PQ intervals, delayed ventricular contraction following atrial contraction may be associated with mitral regurgitation in the presence of a reversed AV pressure gradient. The results of this study suggest that diastolic mitral regurgitation occurs not only in patients with DDD pacemakers, but also with AAIR pacemakers when the PQ interval is prolonged. The occurrence of diastolic mitral regurgitation is associated with the pacing mode or the setting of AV delay.     

Deficiency of endogenous prostanoids in gastric and duodenal ulcer diseases

The levels of prostaglandin E₂ (PGE₂), 6-keto-prostaglandin F₁α (PGF₁α) and thromboxane B₂ (TXB₂) in endoscopic biopsy specimens from the gastric and duodenal mucosa of healthy volunteers and ulcer patients were measured by radio-immunoassay. The PGE₂ and PGF₁α levels in the mucosa of the corpus of the stomach were lower and the TXB₂ level was higher in 10 patients with gastric ulcer in the corpus than in the 16 healthy subjects. The PGE₂ level in the antral mucosa of 14 patients with gastric ulcer in the antrum was lower than in the controls. In 18 patients with duodenal ulcer, PGE₂ deficiency was more widespread in the entire gastric and duodenal mucosa while the reduced PGF₁α level was limited in the gastric corpus. Lower levels of PGE₂ in patients with antral or duodenal ulcer and of PGE₂ and PGF₁α in patients with corpus ulcer in the anatomical mucosal area including the ulcer site may predispose the mucosa to ulceration.     

Diagnosis of small hepatocellular carcinoma by computed tomography: Correlation of CT findings and histopathology

The diagnostic value of computed tomography (CT) scans in small hepatocellular carcinoma (HCC) (less than 5 cm) was studied in 82 patients. Dynamic scan was also made in 66 of them. Combined unenhanced and enhanced scans detected 87% of the lesions greater than 2 cm, but the detection rate was only 25% for lesions less than 1.5 cm. Diagnostic failure was due to isodensity of the mass and to technical artefacts. Diagnosis of the surrounding capsule and internal septa (partition) and demonstration of the typical pattern of density enhancement by dynamic scan proved useful in differentiating HCC from secondary cancers. On unenhanced CT, the density of the interior was subject to the histological changes of tumour such as bleeding, necrosis and fatty metamorphosis. Similarly, enhanced CT showed density changes suggestive of these histological changes. Dynamic scan proved particularly useful for lesions less than 3 cm because the typical density enhancement was frequently demonstrated in the arterial phase. It was concluded that unenhanced CT combined with dynamic scan has a high diagnostic value in small HCC and reflects histological changes.     

Hepatic HCV-RNA as a predictor of outcome after interferon therapy in patients with chronic hepatitis C

Measurement of serum HCV-RNA is a useful index for evaluating the antiviral effect of interferon therapy in chronic hepatitis C. In the present study, we investigated whether the detection of hepatic HCV-RNA after interferon treatment, using a polymerase chain reaction assay, predicted long-term response to therapy in patients with chronic hepatitis C. Thirty-three patients underwent liver biopsies before and after interferon therapy. Histology and clinical courses were compared after treatment. Before therapy, serum and hepatic HCV-RNA was detected in specimens from 32 (97%) and 33 (100%) patients, respectively. Serum HCV-RNA became undetectable in samples from 22 (67%) patients; however, in 10 of these patients (45%), serum HCV-RNA levels relapsed after therapy. Hepatic HCV-RNA became undetectable in 14 patients after therapy and the serum aminotransferase concentration remained within normal limits during and following (24–92 weeks) therapy in 12 of these patients (86%). All 11 patients with detectable hepatic HCV-RNA also had serum HCV-RNA and elevated aminotransferase concentrations refractory to therapy. The absence of hepatic HCV-RNA at the end of interferon treatment thus predicted a long-term complete response to therapy with a sensitivity of 100%, a specificity of 90% and an accuracy of 94%. We conclude that hepatic rather than serum HCV-RNA is a more useful index for the prediction of the long-term efficacy of interferon therapy.     

Epinephrine-Induced Ventricular Premature Complexes Due to Early Afterdepolarizations and Effects of Verapamil and Propranolol in a Patient with Congenital Long QT Syndrome

Epinephrine-Induced VPCs and EADs in Congenital LQTS. We report a patient with congenital long QT syndrome in whom early afterdcpolarizations (RAl)s) were demonstrated on monophasic action potential (MAP) recordings in the left ventricular mid-base inferior wall. Epinephrine infusion at 5 fig/mm increased the amplitude of the EADs and the late component of the T(U) wave. Epinephrine also induced ventricular premature complexes (VPCs) with right hundle branch block morphology and left-axis deviation that occurred from the peak of the EADs. Verapamil injection (5 nig) during continuous epinephrine infusion abolished all VPCs with a slight reduction in the amplitude of the EADs. Propranolol injection (5 mg) in addition to verapamil further reduced the amplitude of the EADs and the late component of the T(U) wave. These findings suggest that the epinephrinc-induced VPCs were closely related to triggered rhythm arising from the EADs, and that both verapumil and propranoloi were effective for the suppression of VPCs and EADs.     

Pancreatic Arteriovenous Malformation in a Patient with Gastrointestinal Hemorrhage

A 39-year old woman, with a pancreatic arteriovenous malformation (AVM) which ruptured into the pancreatic duct, was treated successfully with distal pancreatectomy and splenectomy. Histological examinations revealed an AVM with extravasation into the pancreatic ducts. A review of the cases reported to date emphasizes the importance of physical signs, individual histories and angiographic studies for early diagnosis and surgery.