Valvular prosthesis and anticoagulant treatment

67 patients with prosthetic valvular replacement have been followed up for a period ranging from 6 months to 9 1/2 years; the overall number of valves was: 53 mitral, 24 aortic, 10 tricuspid valves. The average age of our patients was young (23.6 years). Many patients, because of their age or by lack of discipline or because of their social condition, had an inefficient anticoagulant treatment; they were subdivided into three groups. Those who stopped their anticoagulant treatment 6, those treatment was inefficient 25; in these two groups, no thrombo-embolic accident was noted, those whose treatment was efficient with a prothrombin time permanently lower than or equal to 40%: 36. It is in this very series that three cases of thrombosis occurred, two of which were lethal. Thus, although the indication for an anticoagulant treatment in patients with prosthetic valvar replacement remains indisputable, one may wonder, in front of such results, if there are not other factors, besides anticoagulant treatment, that result in thrombo-embolic accidents.     

Severe refractory hypoxemia following a gunshot injury

We describe the case of a 57-year-old man with severe refractory hypoxemia, despite receiving ventilation therapy with 100% oxygen, following a gunshot wound to his left chest. A limited CT scan of the chest with contrast raised the suspicion of an arteriovenous (AV) fistula. Contrast-enhanced transthoracic echocardiography confirmed the presence of a pulmonary AV fistula. Traumatic pulmonary AV fistula is a rare, but serious and life-threatening condition that should be suspected in patients with thoracic injuries with persistent unexplained hypoxemia. Contrast echocardiography is a relatively simple, inexpensive, and readily available bedside test that can be used to confirm this diagnosis.     

Population data and genetic characteristics of 12 X-STR loci using the Investigator® Argus X-12 Quality Sensor kit for the Kedayan population of Borneo in Malaysia

International Journal of Legal Medicine - DNA profiling of X-chromosomal short tandem repeats (X-STR) has exceptional value in criminal investigations, especially for complex kinship and incest...     

Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity,Primordial Dwarfism,and Neurological Abnormalities

DNA double‐strand break repair via non‐homologous end joining (NHEJ) is involved in recombination of immunoglobulin and T‐cell receptor genes. Mutations in NHEJ components result in syndromes that are characterized by microcephaly and immunodeficiency. We present a patient with lymphopenia, extreme radiosensitivity, severe dysmaturity, corpus callosum agenesis, polysyndactily, dysmorphic appearance, and erythema, which are suggestive of a new type of NHEJ deficiency. We identified two heterozygous mutations in LIG4. The p.S205LfsX29 mutation results in lack of the nuclear localization signal and appears to be a null mutation. The second mutation p.K635RfsX10 lacks the C‐terminal region responsible for XRCC4 binding and LIG4 stability and activity, and therefore this mutant might be a null mutation as well or have very low residual activity. This is remarkable since Lig4 knockout mice are embryonic lethal and so far in humans no complete LIG4 deficiencies have been described. This case broadens the clinical spectrum of LIG4 deficiencies.     

Massive Plasmodium falciparum visceral sequestration: a cause of maternal death in Africa

Sequestration of Plasmodium falciparum-infected erythrocytes (PfIE) in the capillaries of the central nervous system (CNS) is the pathognomonic feature of cerebral malaria, a condition frequently leading to death. Sequestration of PfIE in the placental intervillous spaces is the characteristic feature of malaria in pregnancy and is associated with low birthweight and prematurity. Although both patterns of sequestration are thought to result from the expression of different parasite proteins involved in cytoadhesion to human receptors, scant information exists on whether both conditions can coexist and whether this can lead to death. We conducted a prospective autopsy study including all consecutive pregnancy-related deaths in a tertiary-level referral hospital in Maputo, Mozambique, between October 2002 and December 2006. Extensive sampling of all major viscera was performed. All cases showing parasites in any of the viscera were included in the analysis. From 317 complete autopsies PfIEs were identified in ten women (3.2%). All cases showed massive accumulation of PfIE in small capillaries of the CNS but also in most visceral capillaries (heart, lung, kidney, uterus). Placental tissue, available in four cases, showed a massive accumulation of maternal PfIE in the intervillous space. Coma (six women) and dyspnoea (five women) were the most frequent presenting clinical symptoms. In conclusion, massive visceral sequestration of PfIE with significant involvement of the CNS is an infrequent but definite direct cause of maternal death in endemic areas of Africa. The PfIE sequestered in cerebral capillaries and the placenta coexist in these fatal cases.     

A comparison of standard PCNL and staged retrograde FURS in pelvis stones over 2 cm in diameter: a prospective randomized study

The aim of the study was to compare percutaneous nephrolithotomy (PCNL) and staged retrograde flexible ureteroscopy (FURS) methods used in the treatment of kidney stones of 2 cm or more in diameter. The study comprised a total of 60 patients with a diagnosis of kidney pelvic stones more than 2 cm in diameter, for whom surgery was planned between January 2013 and January 2014. The patients were randomly allocated to two groups as staged retrograde FURS (Group A) and PCNL (Group B). Comparison of the groups was made with respect to operating time, number of procedures, total treatment time, length of hospital stay, stone-free rates and complications according to the Clavien–Dindo classification. In Group A, the total operating time of multiple sessions was 114.46 min. In Group B, a single session of PCNL was applied to all patients and the mean operating time was 86.8 min (p = 0.014). Mean total treatment time was 2.01 weeks in Group A and 1 week in Group B (p < 0.01). The mean total hospitalization time was 3.66 days in Group A and 3.13 days in Group B (p = 0.037). At the end of the sessions, clinically insignificant residual fragments were observed in ten patients of Group A and one patient of Group B (p = 0.03). No statistically significant difference was determined between the groups in terms of stone-free rates or complications. Although current technology with FURS is effective on large kidney stones, it has no superiority to PCNL due to the need for multiple sessions and long treatment time.