Femoroacetabular Impingement: Anatomy and Pathogenesis

Femoroacetabular impingement (FAI) is an often unrecognized hip disorder in young adults that can lead to early hip osteoarthritis and a decrease in sports performance. The diagnosis and treatment of this entity have rapidly evolved in recent years. Hip arthroscopy finds its place in the treatment of this conflict, and its indications are more and more frequent. The technical challenge of this operation involves a relatively long learning curve and a good knowledge of the hip anatomy in order to minimize the risk of complications and iatrogenic lesions. In addition to intra-articular structures of the hip joint, the anatomical structures that may be affected by the main and accessory arthroscopic approach are primarily the lateral femorocutaneous nerve, the lateral circumflex femoral artery, the medial circumflex femoral artery, and the circumflex superior iliac artery. A little further, 3–5 cm from the main portals, we must pay attention to the femoral nerve, the sciatic nerve, the superior gluteal nerve, the profunda femoris artery, the superficial femoral artery, and the common femoral artery. The pathogenesis of femoroacetabular impingement is not fully understood. The multifactorial origin is still relevant today. We have divided factors incriminated in the genesis of FAI into three groups

Pulmonary tumor thrombotic microangiopathy: a systematic review.

Pulmonary tumor thrombotic microangiopathy (PTTM) is a fatal disease process in which pulmonary hypertension (PH) develops in the setting of malignancy. The purpose of this study is to present a detailed analysis of cases of PTTM reported in literature in the hopes of achieving more ante-mortem diagnoses. We conducted a systematic review of currently published and available cases of PTTM by searching the term "pulmonary tumor thrombotic microangiopathy" on the Pubmed.gov database. Seventy-nine publications were included consisting of 160 unique cases of PTTM. The most commonly reported malignancy was gastric adenocarcinoma (94 cases, 59%). Cough and dyspnea were reported in 61 (85%) and 102 (94%) cases, respectively. Hypoxemia was reported in 96 cases (95%). Elevation in D-dimer was noted in 36 cases (95%), presence of anemia in 32 cases (84%), and thrombocytopenia in 30 cases (77%). Common findings on chest computed tomography (CT) included ground-glass opacities (GGO) in 28 cases (82%) and nodules in 24 cases (86%). PH on echocardiography was noted in 59 cases (89%) with an average right ventricular systolic pressure of 71 mmHg. Common features of PTTM that are reported across the published literature include presence of dyspnea and cough, hypoxemia, with abnormal CT findings of GGO, nodules, and mediastinal/hilar lymphadenopathy, and PH. PTTM is a universally fatal disease process and this analysis provides a detailed examination of all the available published data that may help clinicians establish an earlier diagnosis of PTTM

Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report

<p>Abstract</p> <p>Background</p> <p>AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number of small studies. We therefore planned a screening study for detection of AATD in patients with OLD in a cohort of patients from Kairouan in central Tunisia. Methods: One hundred twenty patients with OLD (asthma, emphysema, COPD) were enrolled in the screening programme. Laboratory diagnosis for AATD was performed according to current diagnostic standards.</p> <p>Results</p> <p>We found that 6/120 OLD patients carried an AAT deficient allele, 1 PI*MZ, 1 PI*MPlowel, 3 PI*MMmalton, 1 PI*MMwurzburg.</p> <p>Conclusion</p> <p>this pilot study demonstrated that alleles related to deficiency of AAT are not absent in the Tunisian population, and that rare AATD variants prevailed over commonest PI*Z variant. These results would support a larger scale screening for AATD in Tunisia.</p

Enhanced pilot bioremediation of oily sludge from petroleum refinery disposal under hot-summer Mediterranean climate

Large pilot scale bioremediation approaches were implemented for the treatments of oily sludge (OS) characterised by alkaline pH (pH > 9), high concentration of metals (3% dry weight) and high total petroleum hydrocarbons content (TPH) rangingbetween 22,000 and 67,300 mg kg −1 from a Tunisian petroleum refinery. The treatments included bioaugmentation and biostimulation approaches with autochthonous isolated bacterial strains and consortia. Chemical, microbial, and ecotoxicological analyses were performed over a period of 180 days incubation. The bioremediation treatments favoured the development of Proteobacteria, Firmicutes and Bacteroidetes following an ecological succession of specialist bacterial groups, first associated to hydrocarbon degradation (e.g. Marinobacter and Alcanivorax) that resulted in a greater extent of TPH-degradation (up to 80%), and the selection of metal resistant bacteria including Hyphomonas, Phaeobacter, and Desulfuromusa. The best performances were obtained when bioaugmentation and biostimulation were combined. Over 90% of the TPH initial concentration was degraded over 180 days, which was accompanied with a 3-fold reduction of ecotoxicity. Our study demonstrates the efficacy of large pilot scale bioremediation of highly contaminated oily sludge, providing the evidence that the management of autochthonous microbial communities is of paramount importance for the success of the bioremediation process

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

Background: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H+ -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may differ from those described in other ethnicities. We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status. Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 gene despite presenting SNHL. Finally, analysis of the SLC4A1 gene in those patients with a negative result for the previous studies. Methods: 25 children (19 boys) with dRTA from 20 families of Tunisian origin were studied. DNAs were extracted by the standard phenol/chloroform method. Molecular analysis was performed by PCR amplification and direct sequencing. Results: In the index cases, ATP6V1B1 gene screening resulted in a mutation detection rate of 81.25%, which increased up to 95% after ATP6V0A4 gene analysis. Three ATP6V1B1 mutations were observed: one frameshift mutation (c.1155dupC; p.Ile386fs), in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site (c.175-1G > C; p.?) in intron 2, and one novel missense mutation (c. 1102G > A; p. Glu368Lys), in exon 11. We also report four mutations in the ATP6V0A4 gene: one single nucleotide deletion in exon 13 (c.1221delG; p. Met408Cysfs* 10); the nonsense c.16C > T; p.Arg6*, in exon 3; and the missense changes c.1739 T > C; p.Met580Thr, in exon 17 and c.2035G > T; p.Asp679Tyr, in exon 19. Conclusion: Molecular diagnosis of ATP6V1B1 and ATP6V0A4 genes was performed in a large Tunisian cohort with dRTA. We identified three different ATP6V1B1 and four different ATP6V0A4 mutations in 25 Tunisian children. One of them, c.1102G > A; p.Glu368Lys in the ATP6V1B1 gene, had not previously been described. Among deaf since childhood patients, 75% had the ATP6V1B1 gene c. 1155dupC mutation in homozygosis. Based on the results, we propose a new diagnostic strategy to facilitate the genetic testing in North Africans with dRTA and SNHL.This research study was supported by PI09/90888 and PI11/01412 grants, from the Instituto de Salud Carlos III (Spain), by BIO08/ER/020 grant, from the EITB Maratoia-Bioef (Basque Foundation for Health Innovation and Research) and by the Tunisian Ministry of Scientific Research (Research Unit code 05/UR-09-04, University of Monastir) for DEH mobility

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic counseling and also impedes the selection and evaluation of patients undergoing therapy bone marrow transplantation

In silico analysis of alpha1-antitrypsin variants: The effects of a novel mutation

Alpha1-antitrypsin (AAT) is a highly polymorphic protein with more than 120 variants that are classified as normal (normal protein secretion), deficient (reduced circulating AAT level caused by defective secretion) or null (no protein secretion). Alpha1-antitrypsin deficiency, one of the most common genetic disorders, predisposes adults to pulmonary emphysema and, to a lesser extent, chronic liver disease and cirrhosis. In this report, we provide additional sequence data for alpha1-antitrypsin based on the characterization of a novel variant detected in a 53-year-old heterozygous patient with chronic obstructive pulmonary disease. The mutation occurred on a PI*M2 base allele and was characterized by a T → C transition at nt 97 in exon II that led to the replacement of phenylalanine by leucine (F33L). Since the mutation was found in the heterozygous state with the expression of a normally secreted variant (PI*M1) it was not possible to assess the pattern of F33L secretion. However, computational analyses based on evolutionary, structural and functional information indicated a reduction of 23 Å 3 in the side chain volume and the creation of a cavity in the protein hydrophobic core that likely disturbed the tridimensional structure and folding of AAT. The accuracy of the in silico prediction was confirmed by testing known mutations

Monitoring the variation of soil quality with sewage sludge application rates in absence of rhizosphere effect

Agricultural soils in semi-arid regions have frequently been degraded due to adverse climatic conditions, organic matter depletion, and poor farming practices. To enhance soil quality, this study examines the reuse of sewage sludge (SS) as an available source of organic matter in a typical Mediterranean sandy-loam soil. Accordingly, we studied the cumulative effect of two annual applications of 40, 80 and 120 tons of sludge per ha on soil quality in absence of vegetation. The dose-dependent improvement of organic matter content was the most significant event that reflected sludge application rates, and consequently influenced other soil properties. Accordingly, soil structural stability increased by 13.3%, 28.8% and 59.4% for treatments SS-40, SS-80 and SS-120 respectively as compared to unamended control. Structural stability improvement was also confirmed by the dose-dependent variation of other edaphic factors including calcium content, the microbial quotient as well as Welt and C:N ratios. These parameters are involved in cementing soil aggregates by cation bridging, the formation of microbial mucilage, and clay-humic complexes. Soil magnetic susceptibility (SMS) was measured in situ as a possible rapid tool to evaluate soil condition. SMS showed significant correlation with sludge dose and stability amelioration testifying to the aggregation role that can play Al2O3 and particularly Fe2O3 minerals added by the hematite-rich sludge. Besides, analytical results and field observations revealed no trends of soil salinization or acidification by excessive sludge amounts. By avoiding the rhizosphere effect, outcomes could reflect the resilience and intrinsic capacity of the soil to cope with excessive sludge loads.This study was financially supported by a research grant from the Tunisian Ministry of Higher Education and Scientific Research. The authors would like to thank the National Sanitation Utility (ONAS) for providing urban sewage sludge. The technical support of Rym Ghrib is hereby acknowledged

Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)

Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We investigated PiM1 (Ala213Val), PiM2 (Arg101His), PiM3 (Glu376Asp), PiS (Glu264Val) and PiZ (Glu342Lys) SERPINA1 alleles in 100 COPD patients and 200 healthy controls. No significant differences were observed in allele frequencies between COPD patients and controls, neither did haplotype analysis show significant differences between the two groups. A cross-sectional study revealed no significant relationship between common SERPINA1 polymorphisms (PiM1, PiM2, PiM3) and the emphysematous type of COPD. In addition, FEV1 annual decline, determined during a two-year follow up period, revealed no difference among carriers of the tested polymorphisms