Cohen syndrome was initially described as a syndrome including obesity, hypotonia, mental deficiency, and facial, oral, ocular and limb anomalies. Leukopenia, especially neutropenia, was later described as a feature of Cohen syndrome. Cohen syndrome is caused by an autosomal recessive (AR) mutation of the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2.
SummaryIntravenous immunoglobulin (IVIG) and subcutaneous immunoglobulin (SCIG) are effective in the treatment of patients with primary antibody deficiency disorders (PAD). The purpose of this study was to evaluate Streptococcus pneumoniae (Spn) antibody titres to 14 serotypes in patients receiving IVIG compared to SCIG and to correlate Spn antibody levels to clinical outcome. The doses of immunoglobulin (Ig)G/kg/month were similar in both IVIG and SCIG groups. In 11 patients treated with IVIG, Spn antibody titres were ! 1Á3 lg/ml to 99Á4 6 2Á1% of the 14 serotypes at peak IVIG but decreased to 66Á9 6 19Á8% at trough IVIG. Loss of Spn titres ! 1Á3 lg/ml was most frequent for Spn serotypes 1, 4, 9V and 23. This correlated with lower Spn antibody titres to these serotypes at peak IVIG compared to the other serotypes. In 13 patients treated with SCIG, Spn antibody titres were protective to 58Á2 6 23Á3% of the serotypes 3-5 days after infusion, similar to trough IVIG. Similarly, the Spn serotypes with the least protective percentages were the same as the ones observed in trough IVIG. There were no annualized serious bacterial infections (aSBI) in either group. However, there were significantly decreased annualized other infections (aOI) in the SCIG group compared to the IVIG-treated group, 0Á8 6 0Á7 versus 2Á2 6 1Á2 infections/patient/year (P 5 0Á004). Breakthrough aOI did not correlate with protective or higher serum Spn antibody titres.
RATIONALE: Asthma in pregnancy (AiP) carries an increased risk of prenatal and perinatal complications, with possible worsening of asthma. Studies from Australia, India and Spain show a knowledge deficit among physicians pertaining to AiP, but no similar studies have been performed in the USA. METHODS: A cross-sectional survey to assess knowledge and practice trends about AiP was sent to Midwestern USA physicians in allergyimmunology (AI), pulmonology (PU), internal medicine (IM), emergency medicine (EM), family medicine (FM), and obstetrics-gynecology (OB). RESULTS: Of 325 responses, 50% would monitor AiP monthly, 34% once/trimester and 14% only PRN. Although 46%-55% of all respondents (AR) considered montelukast safe in pregnancy, 35% would discontinue montelukast in patients with well-controlled AiP. Of the 35%, 10% would continue only PRN albuterol, whereas 25% would switch to inhaled corticosteroids (ICS). 81%AI/94%PU/60%IM/24%EM/68%FM/66%OB would add long acting bronchodilators for a pregnant woman not wellcontrolled with ICS. Although 53%AR considered oral corticosteroids (OCS) safe in the first trimester and 69% in later trimesters, only 34%AI/ 33%PU/9%IM/21%EM/13%FM/38%OB would prescribe OCS to a pregnant woman suffering an asthma exacerbation. 61%AI/17%PU consider omalizumab safe in the first trimester and 64%AI/31%PU in later trimesters. It was encouraging that 90%AI would continue allergen immunotherapy without dose escalation in pregnancy, in adherence with practice guidelines. 19%AI/74%PU/89%IM/82%EM/66%FM/61%OB felt they lacked expertise in managing AiP. CONCLUSIONS: There is some mismatch -more pronounced in some specialties -between the knowledge and practice trends of physicians and current management guidelines for AiP, underscoring the need for further dissemination and education about guideline recommendations.
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