Early‐onset hypoparathyroidism and chronic keratitis revealing APECED

Early diagnosis of potentially life‐threatening autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) is crucial, but is often delayed due to the clinical heterogeneity of the disorder. Even in the absence of the classic disease triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency, a diagnosis of APECED should be considered in children who have hypoparathyroidism and chronic keratitis, with a past medical history showing a mild and transient Candida infection.     

Mesenchymal stem cell separation from Wharton’s jelly and its differentiation into keratinocytes

Mesenchymal stem cells (MSCs) are a group of cells present in bone marrow stroma, cord blood, Wharton’s jelly, and the stroma of various organs with the capacity for mesoderm-like cell differentiation. The aim of the present work is to isolate MSCs from human umbilical cord Wharton’s jelly and to examine the differentiation potential of these (MSCs) toward the epithelial lineage. Human MSCs derived from Wharton’s jelly of umbilical cord (≈31 cm) after a full-term delivery of 10 cases were localized and isolated and further cultured to enrich and enhance their proliferation. These MSCs were detected after an average of 21–30 days not only morphologically, as a uniform spindle fibroblast-like cells, and reached 70–80 % confluence with a good cellular yield, but also via their immunophenotypic analysis which showed positivity for CD29, CD90, CD105, and CD166 and negativity for CD34. All these cells showed 100 % negativity with CK19 to ensure the absence of any epithelial cells. Later, their differentiation potential was determined by culturing with conditioning medium that include bone morphogenetic protein-4, ascorbic acid, and human epithelium growth factor in a complete medium. These sets of conditions resulted in the expression of keratinocyte markers, namely pancytokeratin (mean value 92 %) and cytokeratin19 (mean value 74 %) using immunohistochemistry. In conclusion, these findings may have a significant impact on studies of early human epithelial differentiation, functional genomics, pharmacological testing, cell therapy, and tissue engineering by helping to eliminate worrying ethical and technical issues.     

Value of hematological parameters for predicting patients with severe coronavirus disease 2019: a real-world cohort from Morocco

ObjectiveCoronavirus disease 2019 (COVID-19) is a viral disease caused by severe acute respiratory syndrome coronavirus 2. The clinical manifestations and the evolution of patients with COVID-19 are variable. In addition to respiratory involvement, COVID-19 leads to systemic involvement and can affect the hematopoietic system. This study aimed to evaluate the prognostic value of hematological and hemocytometric parameters in predicting the severity of patients with COVID-19.MethodsWe performed a retrospective study at Mohammed VI university Hospital from 1 March to 11 November 2020. We collected demographic characteristics and hematological findings of incident COVID-19 cases.ResultsA total of 245 patients were included in our study. We found that the rate of lymphopenia was significantly reduced in patients who were severely affected by COVID-19. Additionally, the rate of neutrophilia, the neutrophil side fluorescence light signal, monocyte fluorescent intensity, monocyte size, the neutrophil-to-lymphocyte ratio, the platelet-to-lymphocyte ratio, and the lymphocyte-to-monocyte ratio were significantly elevated in patients who were severely affected by COVID-19.ConclusionsThese results are consistent with the literature regarding the predictive value of these markers. A prospective validation in a large population with a longer follow-up is required.     

Von Willebrand Disease: Gaining a global perspective

Introduction

Recent guidelines for von Willebrand Disease (VWD) highlighted the challenges in diagnosis and management. Identifying the number of persons with VWD (PwVWD) internationally will help target support to aid diagnosis of PwVWD.

Aim

To examine international registration rates of PwVWD, the influence of income status, geographical region and the age and sex profile. Cumulatively, these data will be used to inform future strategy from the World Federation of Haemophilia (WFH) to address unmet clinical and research needs.

Methods

Data from the 2018/2019 WFH Annual Global Survey (AGS) were analysed, providing a global perspective on VWD registration.

Results

Registration rates are lowest in South Asia (0.6/million population) and highest in Europe/Central Asia (50.9/million population, 0.005%), but below the expected prevalence rate (0.1%). National economic status impacted VWD registration rates, reflecting variation in access to optimal healthcare infrastructure. Females represented the majority of PwVWD globally, however, in low-income countries (LIC) males predominated. Age profile varied, with markedly higher rates of paediatric registrations in North America, Middle East and North Africa and South Asia. Rates of type 3 VWD registrations were significantly influenced by economic status (81% of VWD diagnoses in LIC), suggesting only the most severe VWD types are diagnosed in resource limited settings.

Conclusion

Significant variation in registration rates of PwVWD exist internationally and is influenced by income status and the presence of HTC networks. Improved understanding of registration rates will enable targeting of advocacy to improve awareness, diagnosis and support for PwVWD internationally.

Key points

• Registration rates of People with Von Willebrand Disease (PwVWD) vary internationally and are influenced by national income status
• Although females represent the majority of PwVWD globally, in low income countries (LIC) males predominated, possibly related to stigma surrounding gynaecological bleeding.
• Rates of type 3 VWD registration were significantly influenced by economic status (81% of VWD diagnoses in LIC), suggesting only the most severe VWD types are diagnosed in resource limited settings.