Anemia in patients on chronic hemodialysis in Cameroon: prevalence,characteristics and management in low resources setting

BackgroundAnemia is a common complication of chronic kidney disease. We investigated the prevalence, characteristics and management of anemia in patients on chronic hemodialysis and assessed the response to blood-transfusion based management in Cameroon.MethodsThis was a cohort study of five months'' duration (August–December 2008) conducted at the Yaoundé General Hospital''s hemodialysis center, involving 95 patients (67 men, 70.5%) on chronic hemodialysis by a native arteriovenous fistula. A monthly evaluation included full blood counts, number of pints of red cell concentrates transfused, and vital status.ResultsAt baseline, 75 (79%) patients had anemia which was microcytic and hypochromic in 32 (43%). Anemia was corrected in 67 (70.5%) patients using blood transfusion only, while 28 (29.5%) patients were receiving erythropoietin (11 regularly, 39%). Only 77.2% of 342 pints (median 3.0, range 0–17 per patients) of red cell concentrates prescribed were effectively received during the follow-up at an unacceptably high cost to patients and families. Mean hemoglobin and mean corpuscular hemoglobin levels remained stable during follow-up, while mean corpuscular volume increased. Erythropoietin treatment was the main determinant of favorable trajectories of hematological markers.ConclusionsPatients on chronic hemodialysis have predominantly microcytic hypochromic anemia, with limited capacity for correction using blood transfusion.     

Disseminated visceral Kaposi´s sarcoma in a pediatric bilateral lung transplant recipient

Cancer is a major adverse outcome of solid organ transplantation, and risks are especially high for malignancies caused by viral infections. HHV‐8 is the etiologic agent of Kaposi´s sarcoma (KS). We report a case of visceral KS occurring in a 15‐year‐old patient after lung transplantation. The evolution was dramatically fast and interestingly, KS lesions were diffusely observed, but not in the skin. The autopsy showed the presence of numerous tumoral lesions in many organs. Microscopically, they all had very similar features, regardless of the organ affected. KS presented without cutaneous involvement. The girl was not tested for HHV‐8 prior to transplantation as it was not part of our protocol. The donor was negative. The aim of the report is to alert other teams, especially those working in pediatrics, about this rare but potential complication in the setting of solid organ transplantation.     

MR imaging of posteromedial and posterolateral stabilisers of the knee: anatomic basis and patterns of lesions in knee injuries

Summary The angular points are the ligamentous and tendinous structures that reinforce the posteromedial and posterolateral capsule of the knee and share in fixation of the posterior horns of the menisci. They are often damaged in acute injuries and this is usually associated with ruptures of the cruciate and collateral ligaments and may add to the degree of laxity. We describe the normal appearance of these structures in terms of the sectional anatomy, correlated with the lesional appearances of complete and incomplete ruptures and associated meniscal detachments as shown by clinical testing and arthrotomy findings.

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IRM des points d'angle du genou : bases anatomiques et applications aux genoux traumatiques

Résumé Les points d'angle sont des structures ligamentaires et tendineuses qui renforcent la capsule postéro-médiale et postéro-latérale et participent à la fixation des cornes postérieures des ménisques. Leurs lésions, fréquentes au cours des traumatismes aigus, sont généralement associées à des ruptures des ligaments croisés et des ligaments collatéraux et peuvent être source d'une aggravation de la laxité. Nous rapportons, en corrélation avec l'anatomie en coupe, l'aspect normal de ces structures, et en corrélation avec les données de l'arthrotomie et du testing les aspects lésionnels observés au cours des traumatismes : ruptures complètes, incomplètes et désinsertions méniscales associées.

     

Fertility outcome after treatment of retained products of conception: a systematic review

Background

Treatment of retained products of conception (RPOC) can be expectant, medical or operative. Surgical removal of RPOC may lead to intrauterine adhesions (IUA) and Asherman’s syndrome.

Objective

To evaluate how treatment options for RPOC affect future fertility by means of a systematic review.

Search strategy

MEDLINE, EMBASE, The Cochrane Library, and clinical trial registers were searched, and reference lists were scanned.

Selection criteria

Randomised controlled trials (RCT) comparing different treatment options for RPOC (conservative, medical or surgical treatment, including curettage and/or hysteroscopic techniques, with or without application of anti-adhesion therapy), in women of reproductive age, were eligible for inclusion.

Data collection and analysis

Reviewers independently performed data extraction and quality of evidence assessment. For dichotomous variables, results were presented as risk ratio (RR) with 95% CI.

Main results

Two studies were included. Nonsignificant differences were observed between the use of an anti-adhesion barrier gel versus no treatment after operative hysteroscopy in IUAs (RR 0.32, 95% CI 0.04 to 2.80, P value?=?0.30) and clinical pregnancy (RR 2.22, 95% CI 0.67 to 7.42, P value?=?0.19), and between hysteroscopic morcellation versus loop resection in IUAs (RR 0.86, 95% CI 0.06 to 13.12, P value?=?0.91).

Conclusion

There is insufficient evidence on how different treatment options for RPOC affect future reproductive outcomes. Results from ongoing RCTs are needed to guide clinicians towards choosing the best treatment.

     

Motor performance and functional ability in preschool- and early school-aged children with Juvenile Idiopathic Arthritis: a cross-sectional study

Objective  

To describe the level of motor performance and functional skills in young children with JIA.     

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403 amino acid dual specificity phosphatase (protein tyrosine phosphatase; PTPase), was shown recently to play a broad role in human malignancy. Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours. In addition, PTEN was identified as the susceptibility gene for two hamartoma syndromes: Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS) or Ruvalcaba-Riley-Smith syndrome (MIM 153480). Constitutive DNA from 37 CD families and seven BZS families was screened for germline PTEN mutations. PTEN mutations were identified in 30 of 37 (81%) CD families, including missense and nonsense point mutations, deletions, insertions, a deletion/insertion and splice site mutations. These mutations were scattered over the entire length of PTEN , with the exception of the first, fourth and last exons. A 'hot spot' for PTEN mutation in CD was identified in exon 5 that contains the PTPase core motif, with 13 of 30 (43%) CD mutations identified in this exon. Seven of 30 (23%) were within the core motif, the majority (five of seven) of which were missense mutations, possibly pointing to the functional significance of this region. Germline PTEN mutations were identified in four of seven (57%) BZS families studied. Interestingly, none of these mutations was observed in the PTPase core motif. It is also worthy of note that a single nonsense point mutation, R233X, was observed in the germline DNA from two unrelated CD families and one BZS family. Genotype-phenotype studies were not performed on this small group of BZS families. However, genotype-phenotype analysis inthe group of CD families revealed two possible associations worthy of follow-up in independent analyses. The first was an association noted in the group of CD families with breast disease. A correlation was observed between the presence/absence of a PTEN mutation and the type of breast involvement (unaffected versus benign versus malignant). Specifically and more directly, an association was also observed between the presence of a PTEN mutation and malignant breast disease. Secondly, there appeared to be an interdependent association between mutations upstream and within the PTPase core motif, the core motif containing the majority of missense mutations, and the involvement of all major organ systems (central nervous system, thyroid, breast, skin and gastrointestinal tract). However, these observations would need to be confirmed by studying a larger number of CD families.      

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

The Bethlem myopathy is a rare autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures. Evidence for linkage and genetic heterogeneity has been established, with the majority of families linked to 21q22.3 and one large family linked to 2q37, implicating the three type VI collagen subunit genes, COL6A1 (chromosome 21), COL6A2 (chromosome 21) and COL6A3 (chromosome 2) as candidate genes. Mutations of the invariant glycine residues in the triple-helical domain-coding region of COL6A1 and COL6A2 have been reported previously in the chromosome 21-linked families. We report here the identification of a G-->A mutation in the N-terminal globular domain-coding region of COL6A3 in a large American pedigree (19 affected, 12 unaffected), leading to the substitution of glycine by glutamic acid in the N2 motif, which is homologous to the type A domains of the von Willebrand factor. This mutation segregated to all affected family members, to no unaffected family members, and was not identified in 338 unrelated Caucasian control chromosomes. Thus mutations in either the triple-helical domain or the globular domain of type VI collagen appear to cause Bethlem myopathy.