Prosthetic valve thrombosis-case report and literature review

Prosthetic valve thrombosis (PVT) is a dreaded complication of patients with mechanical valves, particularly those in the mitral position. The diagnosis is based on the clinical presentation, supported by echocardiography. As it provides a sustained benefit with low rates of embolization, thrombolyic therapy is a good non-invasive alternative to surgical therapy for carefully selected patients.     

Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control

beta-Thalassemia (thal), the most common genetic disorder in Egypt, is a major health problem with an estimated carrier rate of 9-10%. This study, aimed at describing the beta-globin gene mutations in the Suez Canal area, an important Egyptian region, to provide a foundation for a disease control program. We studied 44 beta-thalassemic patients (and their relatives) from 35 families living in this region. The commonest mutations were genetically diagnosed using naturally or amplified created restriction sites. Less frequent mutations were characterized by denaturing gradient gel electrophoresis (DGGE) and direct sequencing. Twelve different mutations were identified in 51 unrelated chromosomes. The three most frequent mutations were IVS-I-110 (G-->A), IVS-I-1 (G-->A) and IVS-I-6 (T-->C). The spectrum of rarer mutations was heterogeneous and differed from that reported in other areas of Egypt. We also identified the first homozygous case of a rare mutation, codon 24 (-G; +CAC), displaying a thalassemia major phenotype. Parental consanguinity was high (60.6%) with 35.7% of the compound heterozygous patients having consanguineous parents. These data provide insights for the distribution of beta-thal alleles in this region, and could be used as a basis for genetic counseling and prenatal diagnosis.     

MRI evaluation of local myocardial treatments: epicardial versus endocardial (Cell-Fix catheter) injections

AIMS: We compared two procedures for local myocardial treatment: transepicardial versus transendocardial catheter injection. Transepicardial injections were performed under direct surgical visualization whereas transendocardial injections were performed using electrophysiological guidance. METHODS: A left ventricle (LV) myocardial infarction (MI) was surgically created in 14 sheep. At 3 months, gadolinium was injected IV followed by the injection of super paramagnetic iron oxide (SPIO) into MI. Animals were divided in two groups: transepicardial injection (Group I) versus transendocardial (Group II) using "Cell-Fix" catheter injection. This catheter was developed to identify by electrophysiology the infarcted area and to stabilize injections suctioning the device to the endocardium. Postgadolinium delayed-enhancement magnetic resonance imaging (MRI) was performed to stain the infarct size. SPIO injections were used to assess the magnitude of the treated area. The ratio between SPIO black stained treatment areas and white gadolinium stained infarcted areas was calculated using MRI. RESULTS: The electrophysiological recordings by the catheter for the MI versus normal LV wall were: R wave amplitude 4.16 versus 12.08 mV (P = 0.003), slew rate (slope of the signal) 0.36 V/s versus 1.04 V/s (P = 0.008). The ratio of the SPIO diffusion into the MI was 41.2 +/- 8.1% for surgical and 63.7 +/- 8.2% for percutaneous endocardial injections (P = 0.0132). CONCLUSION: MRI allows evaluation of the extent of local myocardial treatments. The differences shown between epicardial and endocardial injections concerning the distribution of SPIO can be justified by the methodology of injection and by a more precise MI detection by electrophysiology. In conclusion, electrophysiological recordings to guide injections is superior to direct surgical visualization in terms of injecting into infarcted tissue.     

An evaluation of cognitive disorders after anterior choroidal artery infarction

Anterior choroidal artery infarction (AChAI) can be the source of aphasia and spatial neglect, but we have no idea of the other possible cognitive disorders. Here, we investigated these disorders in a relatively large cohort of AChAI patients. Twenty patients with relatively recent infarction (left side: 13; mean delay = 47.4 days; 10 men; mean age = 59.6; mean education level, EL = 10.3) were included. We assessed nonspatial attention (alertness, Go Nogo, divided attention and visual vigilance from the computerized test TEA), spatial attention (bell test), language (BDAE) orientation (time, place), short-term memory (forward and backward digit spans, spatial span), executive functioning (WCST, TMT A and B, categorial evocation), delayed memory (Buschke verbal test, Rey figure test), and retrograde memory (questionnaire on famous events). The performance level was compared with that of 20 control subjects matched in age and EL. AChAI patients were impaired in several tests of attention (slowness, increase in omission and error rate), executive functioning (TMT B; categorical evocation) and delayed memory. Conversely, we found preservation of spatial attention, language, orientation, short-term memory, WCST, and retrograde memory. In conclusion, at the secondary phase post-stroke, these patients can present with moderate disorders of attention, memory and executive functioning, which are clearly less severe than what is usually observed following thalamic or cortical lesions.     

Rapid Detection of β-Thalassemia Alleles in Egypt Using Naturally or Amplified Created Restriction Sites and Direct Sequencing: A Step in Disease Control

β-Thalassemia (thal), the most common genetic disorder in Egypt, is a major health problem with an estimated carrier rate of 9–10%. This study, aimed at describing the β-globin gene mutations in the Suez Canal area, an important Egyptian region, to provide a foundation for a disease control program. We studied 44 β-thalassemic patients (and their relatives) from 35 families living in this region. The commonest mutations were genetically diagnosed using naturally or amplified created restriction sites. Less frequent mutations were characterized by denaturing gradient gel electrophoresis (DGGE) and direct sequencing. Twelve different mutations were identified in 51 unrelated chromosomes. The three most frequent mutations were IVS-I-110 (G→A), IVS-I-1 (G→A) and IVS-I-6 (T→C). The spectrum of rarer mutations was heterogeneous and differed from that reported in other areas of Egypt. We also identified the first homozygous case of a rare mutation, codon 24 (?G; +CAC), displaying a thalassemia major phenotype. Parental consanguinity was high (60.6%) with 35.7% of the compound heterozygous patients having consanguineous parents. These data provide insights for the distribution of β-thal alleles in this region, and could be used as a basis for genetic counseling and prenatal diagnosis.     

Laparoscopic pyelolithotomy: Is the retroperitoneal route a better approach?

Objectives:   To compare the outcome of laparoscopic pyelolithotomy (LP) using the transperitoneal and the retroperitoneal routes.
Methods:   Demographics, intraoperative and postoperative clinical parameters were evaluated in 48 laparoscopic pyelolithotomies performed in patients with renal pelvic calculi of diameter >30 mm. The differences between the transperitoneal and retroperitoneal routes were analyzed.
Results:   Twenty-seven LP were performed using the transperitoneal approach (TLP), and 21 using the retroperitoneal approach (RLP). Apart from weight, the patients' demographics and stone size were similar in the two groups. Between the RLP and the TLP routes, the operative time was 112.1 versus 93.2 min ( P  = 0.01), mean time for oral intake was 1.9 versus 1.2 days ( P  < 0.01), and mean hospital stay was 5.2 versus 3.8 days ( P  < 0.01). The mean postoperative analgesic requirement (2.4 vs 2.2 days, P  = 0.41), mean convalescence days (9.7 vs 10 days, P  = 0.56), and mean estimated blood loss (57.2 vs 62.9 ml, P  = 0.5) were similar between RPL and TPL respectively. The stone-free rate at 3 months follow-up was comparable (88.9% vs 90.5%, P  = 0.86). The postoperative complications were not significantly different.
Conclusions:   Compared with the TLP approach, RLP for large renal pelvic stone resulted in a shorter operative time, a shorter resumption time for normal oral intake, and a shorter hospital stay. As the other clinical outcomes are similar, including the stone-free rate, we recommend the RLP route for LP.