A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metabolic Brain Disease - Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died...     

Primary healthcare policy implementation in the Eastern Mediterranean region: Experiences of six countries

Background: Primary healthcare (PHC) is essential for equitable access and cost-effective healthcare. This makes PHC a key factor in the global strategy for universal health coverage (UHC). Implementing PHC requires an understanding of the health system under prevailing circumstances, but for most countries, no data are available.

Objectives: This paper describes and analyses the health systems of Bahrain, Egypt, Lebanon, Qatar, Sudan and the United Arab Emirates, in relation to PHC.

Methods: Data were collected during a workshop at the WONCA East Mediterranean Regional Conference in 2017. Academic family physicians (FP) presented their country, using the WONCA framework of 11 PowerPoint slides with queries of the country demographics, main health challenges, and the position of PHC in the health system.

Results: All six countries have improved the health of their populations, but currently face challenges of non-communicable diseases, aging populations and increasing costs. Main concerns were a lack of trained FPs in community settings, underuse of prevention and of equitable access to care. Countries differed in the extent to which this had resulted in coherent policy.

Conclusion: Priorities were (i) advocacy for community-based PHC to policymakers, including the importance of coordination of healthcare at the community level, and UHC to respond to the needs of populations; (ii) collaboration with universities to include PHC as a core component of every medical curriculum; (iii) collaboration with communities to improve public understanding of PHC; (iv) engagement with the private sector to focus on PHC and UHC.     

An erythroid chaperone that facilitates folding of alpha-globin subunits for hemoglobin synthesis

Erythrocyte precursors produce abundant alpha- and beta-globin proteins, which assemble with each other to form hemoglobin A (HbA), the major blood oxygen carrier. alphaHb-stabilizing protein (AHSP) binds free alpha subunits reversibly to maintain their structure and limit their ability to generate reactive oxygen species. Accordingly, loss of AHSP aggravates the toxicity of excessive free alpha-globin caused by beta-globin gene disruption in mice. Surprisingly, we found that AHSP also has important functions when free alpha-globin is limited. Thus, compound mutants lacking both Ahsp and 1 of 4 alpha-globin genes (genotype Ahsp(-/-)alpha-globin*(alpha/alphaalpha)) exhibited more severe anemia and Hb instability than mice with either mutation alone. In vitro, recombinant AHSP promoted folding of newly translated alpha-globin, enhanced its refolding after denaturation, and facilitated its incorporation into HbA. Moreover, in erythroid precursors, newly formed free alpha-globin was destabilized by loss of AHSP. Therefore, in addition to its previously defined role in detoxification of excess alpha-globin, AHSP also acts as a molecular chaperone to stabilize nascent alpha-globin for HbA assembly. Our findings illustrate what we believe to be a novel adaptive mechanism by which a specialized cell coordinates high-level production of a multisubunit protein and protects against various synthetic imbalances.     

Mixed chimerism following in utero hematopoietic stem cell transplantation in murine models of hemoglobinopathy

OBJECTIVE: Mixed hematopoietic chimerism after bone marrow transplantation can provide effective treatment for beta-thalassemia because of the selective advantage that exists for donor erythropoiesis. In utero hematopoietic stem cell transplantation (IUHSCTx) can achieve mixed hematopoietic chimerism, particularly when a selective advantage exists for donor cells. To investigate the biology of IUHSCTx in hemoglobinopathies, we performed fully allogeneic IUHSCTx in murine models of beta-thalassemia (Thal) and sickle cell disease (SCD). MATERIALS AND METHODS: We serially assessed and compared levels of mononuclear cell (MNC) and erythroid chimerism after IUHSCTx of either adult bone marrow (BM)- or fetal liver (FL)-derived allogeneic donor cells in the two hemoglobinopathy models, which differ significantly in their degree of anemia (Thal>SCD) and red cell half-life (Thal相似文献   

A case report: Cecal volvulus caused by Meckel's diverticulum

INTRODUCTION

Meckel''s diverticulum is the most common congenital anomaly of the small intestine. Common complications related to Meckel''s diverticulum include hemorrhage, intestinal obstruction and inflammation. Acute large bowel obstruction is a rare complication of Meckel''s diverticulum and in the presented case it is caused by volvulus.

PRESENTATION OF CASE

We report a 39 year old female who presented with the diagnosis of a large bowel obstruction occurring as a result of cecal volvulus caused by adhesions of a perforated diverticulum.

DISCUSSION

The reported case presents one of the rare complications of MD, which is volvulus. The case described above presented with signs and symptoms suggestive of acute intestinal obstruction and radiological findings suggestive of cecal volvulus. The patient was taken to the operation room for exploration and we discovered the presence of a perforated MD. The main treatment of such case is to perform diverticulectomy in all symptomatic patients.

CONCLUSION

MD is mostly identified intraoperatively. Knowledge of the pathophysiologies by which MD can cause complications such as volvulus is important in order to plan management.     

Resorption and calcification of chemically modified collagen/hyaluronan hybrid membranes

The objectives of this study were to characterize collagen/hyaluronan hybrid membrane before and after different chemical crosslinking, as well as to investigate the impact of the treatment method on resorption and calcification processes by in vivo tests. The kinetics study of resorption of collagen/hyaluronan membranes showed that after 28 days the membranes were completely resorbed. The modification of the membranes with glutaraldehyde comparing to the similar modification of pericardial tissue conducts higher calcification. Treatment with hexamethylene diisocyanate together with poly(oxyethylene) improved mechanical properties but the resorption process was similar. Additional treatments with diphenylphosphorylazide and 1-ethyl-3-(3-dimethylamino-propyl) carbodiimide (EDAC) resulted in prolongation of the resorption time. Calcification was suppressed in case of treatment with EDAC.     

Fimbriae as virulence factors of uropathogenic strains of Escherichia coli

In this paper uropathogenic Escherichia coli strains are characterized. In particular, fimbrie as virulence factors are presented and their role in the clinical course of urinary tract infection is assessed.