Long-term assessment of clinical outcomes and disease progression in patients with corrected Tetralogy of Fallot.

OBJECTIVE: Understanding changes of right ventricular (RV) geometry and function in repaired Tetralogy of Fallot (rToF) patients can improve decision-making for pulmonary valve replacement. Therefore, we aimed to assess the magnitude and clinical correlations of RV changes in rToF patients. PATIENTS AND METHODS: Clinical and MRI data of rToF patients who underwent repeated cardiac magnetic resonance imaging (MRI) at two centers between December 2003 and September 2020 were analyzed together with anatomical factors, including RV outflow tract obstruction, pulmonary artery branch stenosis, and tricuspid regurgitation. Adverse cardiac events and/or NYHA class worsening were documented and correlated with MRI changes. QRS length was reported at each MRI. RESULTS: Two-hundred-and-nineteen rToF patients (53% males, aged 20.2 ± 10.1 years) were enrolled. An increase of ventricular dimensions, except LVEDVi, and worsening of right and left ejection fractions were found over an average period of 5 years of follow-up. These changes were statistically significant but within 10% of the initial value. No significant changes were reported on a year-to-year basis, except in a small group of patients (6%) in whom no predictive factors were identified. Despite similar RV dimensions at the first examination, younger patients had a higher RV ejection fraction and a different annual rate of change of ventricular dimensions compared to older ones. Patients with arrhythmias (20%) were more frequently older and had larger RV dimensions but showed no significant correlations with MRI changes/years. CONCLUSIONS:  Changes in RV dimensions and function occur rarely and very slowly in rToF patients. A small percentage of patients experience a significant worsening in a short time interval without any recognized risk factors. Arrhythmias appear to occur in a small percentage of cases in the late follow-up.

Genetic profile of Brazilian patients with dystrophinopathies.

Different types of mutations in the DMD gene underlie Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD). Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about DMD/BMD genetic profile in Brazil. Hence, we recruited patients with DMD and BMD from 8 neuromuscular reference centers along the country, and performed a comprehensive molecular investigation that included Multiplex Ligation-dependent Probe Amplification and Next generation sequencing (NGS) analyses. We evaluated 199 patients from 177 unrelated families: 166 with DMD, 32 with BMD and 1 1.5 years old asymptomatic patient with persistent hiperCKemia. Overall, large deletions (58.2%) followed by nonsense mutations (12.4%) and large duplications (11.3%) were the most frequent variants in Brazilian families. Large deletions were less frequent in BMD than in DMD (44.8% vs 60.8%). We identified 19 new DMD variants. Nonsense mutations were significantly more frequent in patients from northeastern region than from southern/southeastern regions of Brazil (27.7% vs 8.5%, P < .05). Genetic profile of Brazilian patients with DMD/BMD is similar to previously reported cohorts, but it is not uniform across the country. This information is important to plan rational clinical care for patients in face of the new coming mutation-specific therapies.

Fatal necrotising fasciitis associated with intramuscular injection of nonsteroidal anti-inflammatory drugs after uncomplicated endoscopic polypectomy.

Necrotising fasciitis is a life-threatening infection of the superficial muscle fascia and the adjacent deep layer of subcutaneous tissue that is often fatal. A 46-year-old woman was admitted to the intensive care unit (ICU) three days after an uncomplicated endoscopic polypectomy because of necrotising fasciitis of left tight, buttock and retroperitoneal space and septic shock. Six hours after the polypectomy she was given an intramuscular injection of ketorolac in the left tight because of moderate low abdominal pain. Twelve and 24h later she was treated with another two intramuscular injection of diclofenac in the left tight for severe pains in the left hip joint region. The shock was unresponsive to any treatment and the fasciitis extended to the whole body even after surgical specific treatment and the patient died in four days. This is the first report of a necrotising fasciitis following intramuscular administration of nonsteroidal anti-inflammatory drugs after an endoscopic procedure.

Clinical and endoscopic presentation of primary gastric lymphoma: a multicentre study.

BACKGROUND: Although the stomach is the most frequent site of intestinal lymphomas, few data are available on both clinical endoscopic presentation of gastric lymphoma and possible differences between low-grade and high-grade lymphomas. METHODS: Clinical, histological and endoscopic records of consecutive patients with primary low-grade or high-grade lymphoma diagnosed were retrieved. Symptoms were categorized as 'alarm' or 'not alarm'. The endoscopic findings were classified as 'normal' or 'abnormal'. RESULTS: Overall, 144 patients with primary gastric lymphoma were detected, including 74 low-grade and 70 high-grade lymphoma. Alarm symptoms, particularly persistent vomiting and weight loss, were more frequently present in patients with high-grade lymphoma than in those with low-grade lymphoma (54% vs. 28%; P = 0.002). Low-grade lymphomas presented as 'normal' appearing mucosa (20% vs. 0%; P = 0.0004) or petechial haemorrhage in the fundus (9% vs. 0%; P = 0.02) more frequently than high-grade lymphomas, being also more often confined to the antrum (47% vs. 27%, P = 0.03) and associated with Helicobacter pylori infection (88% vs. 52%, P < 0.0001). On the contrary, high-grade lymphomas presented more commonly as ulcerative type (70% vs. 52%; P = 0.03), being also more frequently diagnosed in stage >I when compared with low-grade lymphomas (70% vs. 21%, P < 0.0001). CONCLUSIONS: The overall prevalence of alarm symptoms is quite low and may be absent in more than 70% of patients with low-grade lymphoma.

The role of calprotectin in predicting endoscopic post-surgical recurrence in asymptomatic Crohn's disease: a comparison with ultrasound.

BACKGROUND AND OBJECTIVES: Faecal calprotectin is predictive of clinical relapse in inflammatory bowel disease and ultrasound is sensitive in detecting its post-surgical recurrence. However, no data regarding the role of calprotectin in predicting post-surgical recurrence in asymptomatic Crohn's disease are available. The aim of this study was to prospectively evaluate the role of calprotectin as a predictive marker for one year post-surgical endoscopic recurrence in comparison with ultrasound in patients with asymptomatic Crohn's disease. MATERIAL AND METHODS: We consecutively enlisted 50 patients who had undergone a resection for Crohn's disease. Faecal calprotectin was analysed and ultrasound were performed at the third month, and a colonoscopy after one year. The sensitivity and specificity of these two techniques were evaluated using endoscopic findings as a golden standard. A Receiver Operator Curve (ROC) curve was plotted, in order to identify the best-cut off value for calprotectin. RESULTS: 39 out of 50 patients were evaluated by performing a colonoscopy after one year; 19 patients had an endoscopic recurrence after one year. Calprotectin sensitivity and specificity were calculated for 5 different cut-off values; the best cut-off value for calprotectin sensitivity (63%) and specificity (75%) was > 200 mg/L. The US sensitivity and specificity at the third month were 26% and 90% respectively. CONCLUSIONS: When performed three months after surgery ultrasound is more specific than calprotectin in predicting endoscopic recurrence. Faecal calprotectin at a dosage > 200 mg/L seems to have a better sensitivity than ultrasound. Values of calprotectin > 200 mg can be an indication to colonoscopy in the group of patients with negative ultrasound in order to detect early recurrence.

C4BQ0: a genetic marker of familial HCV-related liver cirrhosis.

BACKGROUND AND METHODS: Host may have a role in the evolution of chronic HCV liver disease. We performed two cross-sectional prospective studies to evaluate the prevalence of cirrhosis in first degree relatives of patients with cirrhosis and the role of two major histocompatibility complex class III alleles BF and C4 versus HCV as risk factors for familial clustering. FINDINGS: Ninety-three (18.6%) of 500 patients with cirrhosis had at least one cirrhotic first degree relative as compared to 13 (2.6%) of 500 controls, (OR 7.38; CI 4.21-12.9). C4BQ0 was significantly more frequent in the 93 cirrhotic patients than in 93 cirrhotic controls without familiarity (Hardy-Weinberg equilibrium: chi2 5.76, P = 0.016) and in 20 families with versus 20 without aggregation of HCV related cirrhosis (29.2% versus 11.3%, P = 0.001); the association C4BQ0-HCV was found almost only in cirrhotic patients with a family history of liver cirrhosis. CONCLUSIONS: Our studies support the value of C4BQ0 as a risk indicator of familial HCV related cirrhosis.

[Ectropion of the uterine cervix in adolescence. Study of a topical drug as an alternative to surgical treatment]. / Ectropion della cervice uterina in età adolescenziale. Valutazione clinica di un prodotto ad uso topico come alternativa alla terapia parachirurgica.

The Authors, studied the ectropion of the uterine cervix in the teen-agers (young ladies) and the effect of the desossiribonucleic acid therapy in topic way by 5 mg/die for 20 days in 80 patients with an ectropion of the I degree and the II degree portion of the uterine cervix. The patients were separated in two groups. 40 patients treated by desossiribonucleic acid therapy, 40 patients didn't take any medicament. In conclusion the results show that the desossiribonucleic therapy could be an alternative way for the treatment of the ectropion of the uterine cervix.

Mortality and causes of death in celiac disease in a Mediterranean area.

No data on mortality in celiac disease are currently available in southern Europe. Our aim was to evaluate mortality and the cause of death in adult celiac disease in a Mediterranean area. In all, 228 adults with celiac disease were histologically diagnosed in our department from 1980 to 1997. Full information on their state of health was obtained in 216 of 228 patients. A tabulation of patient-years at risk was constructed in terms of age at diagnosis and the interval from diagnosis. Standardized mortality ratio was calculated by dividing the number of observed deaths by the number of expected deaths. Twelve deaths were observed, whereas 3.12 deaths were expected (SMR = 3.8; 95% CI 2-7). The increased mortality was mainly observed within four years from diagnosis (8 observed; 1.4 expected) (SMR = 5.8; 95% CI 2.5-11.5). Twelve tumors were observed (six lymphomas). In conclusion, mortality from adult celiac disease in our geographical area is increased compared with the general population, and this increased risk seems due to non-Hodgkin's lymphoma.

Safety issues with herbal products.

OBJECTIVE: To review safety issues associated with the use of herbal products. DATA SOURCES: Literature accessed through MEDLINE and other Internet search engines. Key search terms included herbs, dietary supplements, and safety. DATA SYNTHESIS: A misconception exists among consumers that herbal remedies are safe because they are natural. In an effort to provide healthcare practitioners with information necessary for a patient discussion, a review of safety concerns with herbal products was conducted. CONCLUSIONS: Several safety concerns exist with herbal products including lack of safety data, absence of quality-control requirements for potency and purity, and lenient labeling standards.

[Distal myopathies: clinical, laboratory, electromyographic, histologic-histochemical analysis of 8 cases]. / Miopatias distais: análise clínica, laboratorial, eletromiográfica, histológico-histoquímica de oito casos.

Distal myopathies are uncommon diseases presenting difficulties in the classification by the lack of sufficient knowledge on pathogenesis. We describe eight cases of distal myopathies (five male and three female patients) whose symptoms started at the age of 10 in five and 20 in three. Symptoms started in the distal muscles of lower limbs, following decreased strength in the distal portion of upper limbs, and later on involvement of proximal muscles. Serum enzymes increase was slight in five, moderate in one, and important in two. EMG suggested primary myopathy in four, denervation in two, and was mixed type in another. Muscle biopsies showed features of myopathy and denervation in two cases, active chronic myopathy in five, and chronic myopathy in another. Four cases had vacuoles with positive acid phosphatase reaction and in two cases rimmed vacuoles were found. Six cases had increase of focal phosphatase acid in the muscle fibers suggesting a lissome participation in the pathogenesis of the disease. Two cases were classified as recessive autosomal distal myopathy (Welander variant), two recessive autosomal (Miyoshi type), two autosomal recessive with rimmed vacuole (Myzuzawa and Nonaka type), and two as miscellany type.