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  1. Skin disease profile of Syrian refugees in Jordan: a field-mission assessment
    Saikal SL, Ge L, Mir A, Pace J, Abdulla H, Leong KF, et al.
    J Eur Acad Dermatol Venereol, 2020 Feb;34(2):419-425.
    PMID: 31498503 DOI: 10.1111/jdv.15909
    BACKGROUND: Since the beginning of the Syrian war in 2011, the world has faced the most severe refugee crisis in history and 5.6 million Syrians have sought asylum in neighbouring countries or in Europe. According to recent estimates, more than 650 000 Syrian refugees are displaced in Jordan.

    OBJECTIVES: This article aims to assess the demographic characteristics and skin disease profile of Syrian displaced people residing in Al Za'atari camp and in communities in Jordan. Furthermore, the authors discuss the barriers to healthcare provision experienced during field missions.

    METHODS: This is a retrospective analysis of medical records collected during three medical missions in Jordan by an international dermatological team. Data on patient age, gender, country of origin and skin disease diagnoses were recorded both in Al Za'atari camp and Jordanian towns near the Syrian border.

    RESULTS: A total of 1197 patients were assessed during the field missions, with 67.7% female and 37.1% under the age of 14 years. Dermatitis was the leading dermatological condition in both refugee camp and community healthcare clinics. Infectious diseases were the second most common; however, fungal presentations were more common in the community as opposed to viral in Al Za'atari.

    CONCLUSIONS: High dermatitis presentations were likely secondary to the environment, living conditions and lack of access to emollients. Infectious diseases were postulated secondary to poor hygiene and sharing of overcrowded spaces. Barriers to health care included limited pharmacological formulary, difficulty in continuity of care and case referrals due to lack of specialized services. Better access to health care, improvement of living conditions and hygiene, and increased availability of medications including emollients and sunscreens are all interventions that should be carried out to reduce skin disease burden. Our findings should further urge the international community to uphold their commitments and uptake engagement in improving health care for Syrian displaced people.

  2. Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families
    Ahmed I, Muzammal M, Khan MA, Ullah H, Farid A, Yasin M, et al.
    Biochem Genet, 2024 Aug;62(4):2571-2586.
    PMID: 37985543 DOI: 10.1007/s10528-023-10556-w
    Intellectual disability, a genetically and clinically varied disorder and is a significant health problem, particularly in less developed countries due to larger family size and high ratio of consanguineous marriages. In the current genetic study, we investigate and find the novel disease causative factors in the four Pakistani families with severe type of non-syndromic intellectual disability. For genetic analysis whole-exome sequencing (WES) and Sanger sequencing was performed. I-TASSER and Cluspro tools were used for Protein modeling and Protein-protein docking. Sanger sequencing confirms the segregation of novel homozygous variants in all the families i.e., c.245 T > C; p.Leu82Pro in SLC50A1 gene in family 1, missense variant c.1037G > A; p.Arg346His in TARS2 gene in family 2, in family 3 and 4, nonsense mutation c.234G > A; p.Trp78Term and missense mutation c.2200G > A; p.Asp734Asn in TBC1D3 and ANAPC2 gene, respectively. In silico functional studies have found the drastic effect of these mutations on protein structure and its interaction properties. Substituted amino acids were highly conserved and present on highly conserved region throughout the species. The discovery of pathogenic variants in SLC50A1, TARS2, TBC1D1 and ANAPC2 shows that the specific pathways connected with these genes may be important in cognitive impairment. The decisive role of pathogenic variants in these genes cannot be determined with certainty due to lack of functional data. However, exome sequencing and segregation analysis of all filtered variants revealed that the currently reported variants were the only variations from the respective families that segregated with the phenotype in the family.
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