Serum carnitine levels in patients with homozygous beta thalassemia: a possible new role for carnitine?

Carnitine (-hydroxy--trimethylaminobutyric acid) facilitates the transfer of activated long-chain fatty acids from the cytoplasm to the mitochondria, the site of their -oxidation. Carnitine deficiency results in a reduced usage of fatty acids in energy production and therefore the appearance of clinical symptoms such as myalgia and muscle weakness. In the present study, serum carnitine levels were measured in 45 children and 20 adults with homozygous beta thalassemia. A decrease in serum carnitine levels (total, free and acyl) was found, without any evidence of disorder in the process of mitochondrial -oxidation. The possible cause of this finding could be related to a reduced hepatic carnitine biosynthesis. Conclusion:In patients with homozygous beta thalassemia, the reduction of serum carnitine levels might play an important role in the appearance of muscular dysfunction. It is possible that l -carnitine administration in these patients might improve or even resolve the aforementioned symptom.     

Polymorphisms of CYP2C19 and CYP2D6 in Israeli Ethnic Groups

BACKGROUND: The cytochrome P450 isoenzymes CYP2C19 and CYP2D6 catalyze reactions involved in the metabolism of many widely used drugs. Their polymorphisms give rise to important interindividual and interethnic variability in the metabolism and disposition of several therapeutic agents and may cause differences in clinical response to some drugs. Individuals who carry two null alleles of either gene are known as poor metabolizers (PMs), while those who carry more than two copies of the functional CYP2D6 gene are ultrarapid metabolizers (UMs). AIM: The aim of the current study was to genotype Israelis from four different ethnic backgrounds with respect to CYP2C19 and CYP2D6. STUDY DESIGN: Polymorphisms of the CYP2C19 and CYP2D6 genes were determined by genotyping the four ethnic groups using PCR and/or restriction fragment length polymorphism (RFLP) analysis. The groups consisted of three Jewish communities, Yemenite Jews (n = 36), Sephardic Jews (n = 47), Ethiopian Jews (n = 28), and one Arabian population, Bedouins (n = 50). RESULTS: CYP2C19*2 allele frequencies ranged from 12.0 to 19.6% among the four ethnic groups. Within the study population, the CYP2C19*3 gene was only found in one Bedouin individual, in the heterozygous state (CYP2C19*1/*3). In each group, one individual was homozygous for CYP2C19*2, and were predicted to be PMs. The data revealed a high prevalence of CYP2D6*2, *4, *10, *41, and gene duplication, followed by *5 and *17, while *3 was very rare. The frequencies of the CYP2D6*4, *10, and *17 alleles and CYP2D6 gene duplication were significantly different among the four groups. However, the CYP2D6*2, *3, and *5 and *41 alleles showed similar frequencies in the four groups. Four (8.5%) Sephardic Jews and one (2.0%) Bedouin were found with the genotype CYP2D6*4/*4 (two null alleles), and were thus presumably PMs. A total of 15 individuals, distributed in all groups, were found with functional CYP2D6 gene duplications. The frequencies of predicted UMs (duplication of CYP2D6) were 17.8% (5/28) and 12.8% (6/47) in Ethiopian Jews and Sephardic Jews, respectively, which were higher than that of Yemenite Jews (5.6%, 2/36) and Bedouins (4.0%, 2/50). CONCLUSIONS: This is the first study of the CYP2D6 gene polymorphism in Israeli ethnic groups, either Jewish or Arab. Furthermore, this is also the first study of the CYP2C19 gene polymorphism in Jewish or Arab subgroups living in Israel. The frequencies of various alleles for the CYP2D6 gene are significantly different among the ethnic groups in Israel. These new findings may have important clinical implications in administrating drugs metabolized by CYP2D6 and for CYP2D6-related adverse drug reactions in the Israeli population.     

Lower limb venous haemodynamic impairment on dependency: quantification and implications for the "economy class" position

The role of stasis in venous disease is undisputed, yet surprisingly, its haemodynamic quantitation remains largely undefined. We investigated the phenomenon of venous stasis in the lower limb upon sitting and standing and project its implications to economy class aircraft passengers. 26 normal limbs, 13 subjects, age 29-54, selected after duplex, plethysmography and ABPI, had peak[V(peak)], mean[V(mean)] and minimum[V(min)] velocities, volume-flow[Q(venous)], pulsatility index [PI(venous)] and diameter obtained on horizontal, sitting (as in economy aircraft seats) and standing with duplex, at popliteal, femoral[FV] and common femoral[CFV]veins [differences in median %]. V(peak), V(mean) and Q(venous) decreased from horizontal to sitting in the CFV [57%, 71%, 31%, respectively], FV [51%, 70%, 34%] and popliteal [31%, 58%, 42%] (all, p<.001). V(peak),V(mean) and Q(venous) decreased further from sitting to standing in the CFV [26%, 44%, 25%, respectively], FV [21%, 42%, 27%] and popliteal [14%, 42%, 20%] (all, p <.001). Diameter, V(min) and PI(venous) increased from horizontal to sitting in the CFV [50%, 63%, 38%, respectively], FV [39%, 23%, 66%] and popliteal [21%, 14%, 84%] (all, p <.001)]. Diameter, V(min) and PI(venous) increased further from sitting to standing in CFV [10%, 22%, 19%, respectively; p =.004], FV [12%, 68%, 2%[ns]; p <.001)] and popliteal [14%, 50%, 24%; p =.017]. In all postures: V(peak), V(mean), Q(venous) and diameter at CFV exceeded FV (p <.025) and popliteal (p <.001) ones; also those at FV exceeded the popli-teal ones (p =.003), except for the diameter on horizontal. V(min) in popliteal was higher than in CFV (p =.003) or FV (p <.025), on horizontal and standing. PI(venous) in CFV was lower than in FV or popliteal (p <.025) on sitting. Right to left differences non-significant. [Wilcoxon(+Bonferroni) test: significance at p <.025] A shift from horizontal to sitting generates a most significant attenuation in Q(venous),V(peak) and V(mean) linked to a reciprocal increase in V(min), PI(venous) and vein diameter, with further exacerbation on standing. V(peak),V(mean) and Q(venous) decline with distance from groin enhancing venous stasis in the periphery. By restricting activation of the natural venous pumps, sitting cramped during long flights may protract the status of haemodynamic stagnation sustained on dependency which paired with marked venous dilatation generates a milieu that may promote thrombogenesis.     

Attitude of Pilsen primary school teachers in dental traumas

Abstract – Dental injuries are rather common during sport activities and at schools where children spend most of their time every day. The purpose of this study was to evaluate the knowledge of primary school teachers in Pilsen, Czech Republic, of how to provide first aid in cases of one of the most serious dental injuries, the tooth avulsion. To this end, a questionnaire which contained nine questions about avulsion of permanent teeth was prepared. The questionnaires were distributed in nine primary schools in Pilsen where almost 300 teachers are employed. Seventy‐four percent of the teachers replied. Sixty‐eight percent had never received any information about providing first aid in cases of dental injuries and 81% would place the avulsed tooth in a dry handkerchief until the transfer of the patient to dentist. Prevention of tooth injuries is very important, as they may result even in tooth loss. This demands an effort to properly inform and educate sport trainers and primary school teachers about providing first aid in dental trauma situations; this effort should be intensive and continuous.     

Epidemiologic aspects of endometrial cancer in Thrace, Greece.

To describe the epidemiologic characteristics of endometrial cancer in relation with certain risk factors affecting the two major ethnic groups (Christian Orthodox and Muslims) in the area of Thrace, Greece. We performed a cross-sectional study of 166 consecutive patients, aged between 29 and 87 years, with documented endometrial cancer who were referred to our clinic for treatment from January 1986 to June 1998. Epidemiologic characteristics of the patients were abstracted from medical charts. To evaluate our results we used the direct standardization method (1995 Eur. Population) and chi2 test. The endometrial cancer incidence for the two study populations (Christian Orthodox and Muslims) was 16.96 and 3.16/100,000, respectively. We observed statistically significant differences in most epidemiologic characteristics between the two major ethnic groups in Thrace (Christian Orthodox and Muslims) regarding endometrial cancer. Our results confirm the increasing trend of endometrial cancer incidence as established in previous investigations.     

Long-term survival of cancer patients compared to heart failure and stroke: A systematic review

Background  

Cancer, heart failure and stroke are among the most common causes of death worldwide. Investigation of the prognostic impact of each disease is important, especially for a better understanding of competing risks. Aim of this study is to provide an overview of long term survival of cancer, heart failure and stroke patients based on the results of large population- and hospital-based studies.     

Rate and Risk Factors for Periprosthetic Joint Infection Among 36,494 Primary Total Hip Arthroplasties

Background

As periprosthetic joint infections (PJIs) can have tremendous health and socioeconomic implications, recognizing patients at risk before surgery is of great importance. Therefore, we sought to determine the rate of and risk factors for deep PJI in patients undergoing primary total hip arthroplasty (THA).

Shortcomings in colonic stenting to palliate large bowel obstruction from extracolonic malignancies

Aim  

The aim of this study is to report our experience gained after attempted colonic stenting for colonic obstruction from extracolonic cancer.