Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome
Purpose of review WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, myelokathexis, or WHIMs) is a very rare autosomal dominant immunodeficiency disorder attributable to mutations in CXCR4. We reviewed clinical manifestations in 24 patients in 9 families to expand understanding of this syndrome. Recent findings Warts, cellulitis and respiratory infections are common in patients with WHIMs. Less commonly these patients have congenital heart disease, human papilloma virus-associated malignancies (cervical and vulvular) and lymphomas. Hearing loss because of recurrent otitis media is another important complication. Treatment with granulocyte colony-stimulating factor is controversial; this review indicates that it is effective to prevent and treat infections based upon long-term observations of patients enrolled in the Severe Chronic Neutropenia International Registry. Understanding the natural history and diversity of this syndrome are important for ongoing clinical trials of novel agents to treat WHIMs. Summary WHIM syndrome has diverse manifestations; some features occur consistently in almost all patients, for example, neutropenia, lymphocytopenia and mild hypogammaglobulinemia. However, the clinical consequences are quite variable across patient cohorts and within families. Each complication is important as a cause for morbidity and a source for patient and family concerns.
Authors: Miyagi Y, Takehara K, Nagayasu Y, Miyake T Abstract The aim of the present study was to explore the feasibility of using deep learning, such as artificial intelligence (AI), to classify cervical squamous epithelial lesions (SILs) from colposcopy images combined with human papilloma virus (HPV) types. Among 330 patients who underwent colposcopy and biopsy performed by gynecological oncologists, a total of 253 patients with confirmed HPV typing tests were enrolled in the present study. Of these patients, 210 were diagnosed with high-grade SIL (HSIL) and 43 were diagnosed with low-grade SIL (LSIL). An origina...
Publication date: February 2020Source: The Lancet Global Health, Volume 8, Issue 2Author(s): Louise Kuhn, Rakiya Saidu, Rosalind Boa, Ana Tergas, Jennifer Moodley, David Persing, Scott Campbell, Wei-Yann Tsai, Thomas C Wright, Lynette DennySummaryBackgroundHPV-based screen and treat is the recommended approach for cervical cancer screening in low-resource settings, but quite low specificity of human papillomavirus (HPV) testing, particularly in women living with HIV, leads to overtreatment. We evaluated whether HPV type restriction and more stringent cutoffs on Xpert HPV optimise performance characteristics of this assay f...
Physical activity is established as being instrumental in improving physical as well as mental health of not only healthy children but also children with chronic diseases. When good physical activity habits are established in childhood they become habitual and help the development of long-term cardiovascular health in adults. All children should be physically active in order to reduce or perhaps even help prevent childhood obesity. The current recommendations of the WHO call for at least 60 minutes of moderate to vigorous intensity physical activity daily.
Publication date: Available online 22 January 2020Source: The Lancet NeurologyAuthor(s): Jeremy Chataway, Floriana De Angelis, Peter Connick, Richard A Parker, Domenico Plantone, Anisha Doshi, Nevin John, Jonathan Stutters, David MacManus, Ferran Prados Carrasco, Frederik Barkhof, Sebastien Ourselin, Marie Braisher, Moira Ross, Gina Cranswick, Sue H Pavitt, Gavin Giovannoni, Claudia Angela Gandini Wheeler-Kingshott, Clive Hawkins, Basil SharrackSummaryBackgroundNeurodegeneration is the pathological substrate that causes major disability in secondary progressive multiple sclerosis. A synthesis of preclinical and clinical re...
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From 2013 to 2016, negative information about the HPV (human papillomavirus) vaccine spread widely through Danish media outlets. As a result, thousands of girls did not receive the vaccine.
Condition: Non Hodgkin Lymphoma Intervention: Biological: CD19 CAR-T cells infusion Sponsors: PersonGen BioTherapeutics (Suzhou) Co., Ltd.; The First Affiliated Hospital of Zhengzhou University Recruiting
Condition: Relapsed or Refractory Classical Hodgkin's Lymphoma Intervention: Sponsor: Innovent Biologics (Suzhou) Co. Ltd. Not yet recruiting
Condition: Hodgkin Lymphoma Intervention: Drug: Camrelizumab(SHR-1210) Sponsor: Peking University Recruiting