Acetabular protrusion in thalassemia. A report of four cases

Four female patients with thalassemia intermedia developed secondary acetabular protrusion. These cases could be the first reported cases of nontraumatic acetabular protrusion in patients with thalassemia. The rarified pelvic bone may be due to medullary hyperplasia, iron overload, or disordered calcium metabolism in conjunction with osteomalacia. The fact that currently patients with beta-thalassemia have a longer life expectancy may explain the recent observation of this entity, which should become more familiar to orthopedic surgeons who treat thalassemia patients in the future.     

The effect of anticoagulation on antenatal ultrasound findings in pregnant women with thrombophilia.

OBJECTIVE: To assess whether treatment with heparin alters ultrasound findings in pregnant women with inherited thrombophilia. METHODS: This was a retrospective study of a cohort of patients referred for pregnancy complications who were found to have genetic thrombophilia. Ultrasounds were reviewed in treated and untreated pregnancies for the presence of growth restriction, oligohydramnios or abnormal Doppler results. RESULTS: There were a total of 178 pregnancies in 51 patients. The overall percentage of abnormal ultrasounds was significantly greater in the untreated compared with treated pregnancies (52.8% vs. 27.9%; p = 0.024.) Growth restriction and abnormal Doppler results were more common in untreated pregnancies. There was a significantly decreased risk of oligohydramnios with treatment (27.3% vs. 7%; p = 0.03). Overall outcomes were significantly improved with the use of anticoagulation ( p < 0.0001). CONCLUSIONS: Treatment markedly improves ultrasound parameters of growth, fluid and feto-placental blood flow in patients with thrombophilia. The presence of abnormalities despite treatment reinforces the need for close antenatal surveillance.     

In the Heart or in the Head: Relationship and Cognitive Influences on Sexual Risk Among Young Couples

Few studies examine how relationship factors influence sexual risk. We investigated gender differences of the influence of relationship functioning on sexual risk behavior and sexually transmitted infections (STIs) among 296 young pregnant couples. Compared to women, men were twice as likely to have a concurrent partner, were less likely to intend to be monogamous in the future, had less HIV/STI knowledge and more perceived risk for HIV/STI, negative attitudes and efficacy toward condom use (all P < 0.05). For men, poor relationship functioning related to less intentions to be monogamous, more partner concurrency, worse sexual communication, and more condom use. For women, poor relationship functioning related to worse sexual communication and less condom use. In addition, women who had good relationship functioning and women who had partners with poor relationship functioning were more likely to have an STI. These results demonstrate the need to include heterosexual men and relationship factors in HIV prevention.     

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function,and literature review

Rare pathogenic EIF2S3 missense and terminal deletion variants cause the X-linked intellectual disability (ID) syndrome MEHMO, or a milder phenotype including pancreatic dysfunction and hypopituitarism. We present two unrelated male patients who carry novel EIF2S3 pathogenic missense variants (p.(Thr144Ile) and p.(Ile159Leu)) thereby broadening the limited genetic spectrum and underscoring clinically variable expressivity of MEHMO. While the affected male with p.(Thr144Ile) presented with severe motor delay, severe microcephaly, moderate ID, epileptic seizures responsive to treatments, hypogenitalism, central obesity, facial features, and diabetes, the affected male with p.(Ile159Leu) presented with moderate ID, mild motor delay, microcephaly, epileptic seizures resistant to treatment, central obesity, and mild facial features. Both variants are located in the highly conserved guanine nucleotide binding domain of the EIF2S3 encoded eIF2γ subunit of the heterotrimeric translation initiation factor 2 (eIF2) complex. Further, we investigated both variants in a structural model and in yeast. The reduced growth rates and lowered fidelity of translation with increased initiation at non-AUG codons observed for both mutants in these studies strongly support pathogenicity of the variants.     

Zidovudine treatment of the AIDS dementia complex: Results of a placebo-controlled trial

The efficacy of two doses of zidovudine was examined for the treatment of the acquired immunodeficiency syndrome (AIDS) dementia complex in a randomized, double-blinded, placebo-controlled trial conducted at nine study centers. For the initial 16 weeks, 40 subjects with mild to moderate AIDS dementia complex were randomized to one of three treatment arms: 400 mg of zidovudine five times daily, 200 mg of zidovudine five times daily, or placebo five times daily. After week 16, patients initially randomized to the placebo group were rerandomized to one of the two zidovudine treatment arms. The primary efficacy end point was improvement in performance on a battery of seven neuropsychological tests; the secondary end point was improvement on a protocol neurological evaluation directed at the cardinal features of the AIDS dementia complex. For the initial 16-week period, average z scores based on the neuropsychological test battery revealed a significant improvement in the combined treatment groups compared to the placebo group; however, when the two treatment groups were compared separately to the placebo group, only the group receiving the higher zidovudine dose exhibited significant improvement. After rerandomization of the placebo patients to one of the two treatment arms at week 16, this group also showed significant improvement in the average neuropsychological z score by week 32. These results extend previous observations that indicate a therapeutic benefit of zidovudine for the treatment of AIDS dementia complex.     

HSV-1 based amplicon vectors as an alternative system for the expression of functional HCV proteins

The lack of efficient systems for the propagation of the hepatitis C virus in vitro, in the past decade, led to the development of several heterologous expression systems for the study of the HCV proteins and the HCV life cycle. HSV-1 amplicon vectors encoding the HCV structural and some of the non structural proteins were generated initially for the expression of high levels of these proteins into mammalian cells. The recent developments in the production of amplicon vectors, allowing the elimination of the contaminating helper HSV-1 virus have given a novel impulse in the study of these vectors as possible vaccine candidates. In this review, an extensive list of the existing amplicon vectors expressing HCV proteins is provided, together with a brief overview of the results obtained by these studies.     

Exploring Trajectories and Predictors of Depressive Symptoms Among Young Couples During Their Transition to Parenthood

Objectives Young parents may be particularly vulnerable to poor mental health during the postpartum period. Little research exists, however, to adequately describe trajectories of depressive symptoms during their transition to parenthood, particularly among young fathers. Therefore, we aim to explore trajectories of depressive symptoms from pregnancy through 1 year postpartum among young expectant mothers and their partners. Methods Data are derived from a longitudinal cohort of pregnant adolescent females (ages 14–21; n = 220) and their male partners (n = 190). Multilevel regression models examined the impact of time on depressive symptoms, and generalized linear regression models examined predictors of experiencing elevated depressive symptoms. Results Depressive symptoms significantly decreased from pregnancy through 1 year postpartum among young females. Overall, depressive symptoms did not significantly change over time among young males. Predictors of elevated depressive symptoms common across genders included social support and relationship satisfaction. Marijuana use resulted in almost twice the odds of experiencing elevated depressive symptoms among young fathers (OR 1.82; 95 % CI 1.04, 3.20). Conclusion for Practice Providing strategies for strengthening social support networks among young parents may be an effective way to improve mental health among young parents, particularly during this period of potential social isolation. Additionally, providing tools to strengthen relationships between partners may also be effective for both young mothers and fathers. Substance use may be a marker for depressive symptoms among young fathers and thus screening for substance use could be important to improving their mental health. Future research is needed to better understand how IPV affects mental health, particularly among young fathers.