LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

Stickler syndrome is a collagenopathy that is typically inherited as autosomal dominant disease caused by monoallelic mutations in COL2A1, COL11A2, and COL11A1. Rarely, biallelic mutations in COL9A1, COL9A2, and COL9A3 cause an autosomal recessive Stickler syndrome. One previous report described two siblings with Stickler syndrome and a homozygous mutation in LOXL3, suggesting that biallelic mutations in LOXL3 can also cause autosomal recessive Stickler syndrome. LOXL3 is a member of the lysyl oxidase family of genes which encode enzymes oxidizing the side chain of peptidyl lysine permitting the covalent crosslinking of collagen and elastin chains. Therefore, LOXL3 deficiency is expected to result in collagen defect. Furthermore, Loxl3 deficient mouse model demonstrated features overlapping with Stickler syndrome. In this report, we describe a child and his father who had clinical features consistent with Stickler syndrome and found to have a homozygous novel mutation c.1036C>T (p.Arg346Trp) in LOXL3. This report not only supports that biallelic LOXL3 mutations cause autosomal recessive Stickler syndrome, but also further delineates the phenotype associated with LOXL3 mutations. In addition, the family described here shows an interesting example for pseudodominance, which can be observed in recessive diseases when one parent is affected and the other is heterozygous carrier.

Longitudinal changes in IgG levels among COVID-19 recovered patients: A prospective cohort study.

OBJECTIVES: To quantify SARS-CoV2 IgG antibody titers over time and assess the longevity of the immune response in a multi-ethnic population setting. SETTING: This prospective study was conducted in a tertiary hospital in Abu Dhabi city, UAE, among COVID-19 confirmed patients. The virus-specific IgG were measured quantitatively in serum samples from the patients during three visits over a period of 6 months. Serum IgG levels ≥15 AU/ml was used to define a positive response. PARTICIPANTS: 113 patients were analyzed at first visit, with a mean (SD) age of participants of 45.9 (11.8) years 87.5% of the patients were men. 63 and 27 participants had data available for visits 2 and 3, respectively. PRIMARY OUTCOME: Change in SARS-CoV2 IgG antibody titers over the visits. RESULTS: No mortality or re-infection were reported. 69% of the patients developed positive IgG response within the first month after the onset of symptoms. The levels of IgG showed a consistent increase during the first three months with a peak level during the third month. Increasing trend in the levels of IgG were observed in 82.5%, 55.6% and 70.4% of patients between visit 1 to visit 2, visit 2 to visit 3, and from visit 1 to visit 3, respectively. Furthermore, about 64.3% of the patients showed sustained increase in IgG response for more than 120 days. CONCLUSIONS: Our study indicates a sustained and prolonged positive immune response in COVID-19 recovered patients. The consistent rise in antibody and positive levels of IgG titers within the first 5 months suggest that immunization is possible, and the chances of reinfection minimal.

Change in meticillin-resistant Staphylococcus aureus clones at a tertiary care hospital in the United Arab Emirates over a 5-year period.

AIMS: Meticillin-resistant Staphylococcus aureus (MRSA) strains isolated in Tawam Hospital, a tertiary care hospital in the United Arab Emirates, were examined in order to understand the reasons for a doubling of its incidence between 2003 and 2008 while maintaining the same infection control measures. METHODS: All consecutive non-duplicate clinically relevant MRSA isolates recovered between January and December 2003 and between May and October 2008 were studied. The antibiotic susceptibility, pulsed field gel electrophoresis, toxin gene, staphylococcal cassette chromosome mec (SCCmec), spa, agr and multilocus sequence types of the strains were tested. RESULTS: In 2003, typical healthcare-associated (HA-MRSA) genotypes (ST239-MRSA-III, ST22-MRSA-IV and ST5-MRSA-II) represented the majority (61.5%) of the isolates. By 2008 this pattern had changed and clonal types considered as community-associated (CA) MRSA comprised 73.1% of the strains with ST80-MRSA-IV, ST5-MRSA-IV and ST1-MRSA with non-typable SCCmec types being the most frequent. However, further epidemiological investigations showed that only one-third of the CA-MRSA infections were actually acquired in the community, indicating that CA-MRSA clones have entered and spread within the hospital. CONCLUSIONS: The emergence of CA-MRSA clones with subsequent entry to and spread within the hospital has contributed to the increasing incidence of MRSA observed in Tawam Hospital and probably also in other hospitals in the UAE.