Coccidioidomycosis in pregnancy: Case report and literature review of associated placental lesions

AbstractBackgroundCoccidioidomycosis is an endemic fungal infection found most commonly in the Southwestern United States, Northwestern Mexico, and parts of Central and South America. Although infection is relatively uncommon during pregnancy, it is imperative to have an index of suspicion in order to diagnose and begin timely treatment to prevent dissemination and dire consequences.Case reportA 33-year-old Hispanic female was evaluated after she was involved in an automobile accident. Radiographic evaluation showed a 3.2×3.2cm cavitary thick-walled lesion. A biopsy was negative for malignancy. Evaluation was positive for coccidioidomycosis by complement fixation reaction. Four months later, the patient presented 7weeks into a pregnancy with massive hemoptysis. Bronchoscopy revealed bleeding from the right upper lobe and emergency embolization was performed. The patient had a spontaneous abortion 9days after admission. The right upper and middle lobes of the lung were resected due to continuous bleeding. A subsequent pregnancy was un-eventful. Coccidioidomycosis titers remained negative throughout the second pregnancy.DiscussionThis case demonstrates the potential for severe pulmonary coccidioidomycosis and vascular strain of pregnancy-associated vascular expansion in the first trimester of pregnancy and the possibility of a favorable pregnancy outcome in subsequent pregnancies after appropriate treatment. The route of feto-maternal transmission and placental lesions in coccidioidomycosis are discussed

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Understanding lactose intolerance and the dietary management thereof

CITATION: Labuschagne, I. & Lombard, M. J. 2012. Understanding lactose intolerance and the dietary management thereof. South African Family Practice, 54(6):496-498.The original publication is available at http://www.safpj.co.zaDiets that exclude dairy may decrease gastrointestinal symptoms in symptomatic individuals who have lactose malabsorption or lactose intolerance. However, most lactose-intolerant adults can consume some lactose without experiencing major symptoms, thereby reducing the need for strict elimination of dairy products from the diet.http://www.safpj.co.za/index.php/safpj/article/view/2932Publisher's versio

Diet and childhood asthma : review

CITATION: Labuschagne, I. L. & Van Niekerk, E. 2016. Diet and childhood asthma : review. South African Family Practice, 58(1):S9-S11, doi:10.1080/20786190.2014.978098.The original publication is available at http://www.tandfonline.comChildhood asthma is the most common chronic inflammatory childhood disease with almost 20% children and adolescents reporting asthma symptoms in South Africa. Associations between asthma and dietary antioxidants (vitamin E, vitamin C, carotenoids, selenium, polyphenols, and fruit), polyunsaturated fatty acids (PUFA), and vitamin D have been found. Adherence to the Mediterranean diet seems protective. This condensed review briefly reports on available data of possible protective dietary patters and practices.http://www.tandfonline.com/doi/full/10.1080/20786190.2014.978098Publisher's versio

Acidified infant formula explained

CITATION: Labuschagne, I., Van Niekerk, E. & Lombard, M. J. 2013. Acidified infant formula explained. South African Family Practice, 55(3):354-356.The original publication is available at http://www.safpj.co.zaThe development of effective methods to prevent acute gastroenteritis is an important goal for infant health. Exclusive breastfeeding and postponement of complementary foods until the age of six months is recommended for healthy infants. However, at times, infant formula is required. Various types are commercially available. Acidified cow’s milk formula has been found to prevent the growth of pathogenic bacteria and concurring diarrhoeal disease.http://www.safpj.co.za/index.php/safpj/article/view/3729Publisher's versio

Multi-laboratory compilation of atmospheric carbon dioxide data for the period 1983-2020; obspack_ch4_1_GLOBALVIEWplus_v4.0_2021-10-14

This product is constructed using the Observation Package (ObsPack) framework [Masarie et al., 2014; www.earth-syst-sci-data.net/6/375/2014/]. The framework is designed to bring together atmospheric greenhouse gas (GHG) observations from a variety of sampling platforms, prepare them with specific applications in mind, and package and distribute them in a self-consistent and well-documented product. ObsPack products are intended to support GHG budget studies and represent a new generation of cooperative value-added GHG data products. This product includes 362 atmospheric methane datasets derived from observations made by 46 laboratories from 18 countries. Data for the period 1983-2020 (where available) are included

Multi-laboratory compilation of atmospheric carbon dioxide data for the period 1957-2019; obspack_co2_1_GLOBALVIEWplus_v6.0_2020-09-11

A full list of all creators for this product can be found at www.esrl.noaa.gov/gmd/ccgg/obspack/providerlist/obspack_co2_1_GLOBALVIEWplus_v6.0_2020-09-11.html. This product is constructed using the Observation Package (ObsPack) framework [Masarie et al., 2014; www.earth-syst-sci-data.net/6/375/2014/]. The framework is designed to bring together atmospheric greenhouse gas (GHG) observations from a variety of sampling platforms, prepare them with specific applications in mind, and package and distribute them in a self-consistent and well-documented product. ObsPack products are intended to support GHG budget studies and represent a new generation of cooperative value-added GHG data products. This product includes 471 atmospheric carbon dioxide datasets derived from observations made by 54 laboratories from 21 countries. Data for the period 1957-2019 (where available) are included

Multi-laboratory compilation of atmospheric carbon dioxide data for the period 1957-2020; obspack_co2_1_GLOBALVIEWplus_v7.0_2021-08-18

This product is constructed using the Observation Package (ObsPack) framework [Masarie et al., 2014; www.earth-syst-sci-data.net/6/375/2014/]. The framework is designed to bring together atmospheric greenhouse gas (GHG) observations from a variety of sampling platforms, prepare them with specific applications in mind, and package and distribute them in a self-consistent and well-documented product. ObsPack products are intended to support GHG budget studies and represent a new generation of cooperative value-added GHG data products. This product includes 524 atmospheric carbon dioxide datasets derived from observations made by 63 laboratories from 21 countries. Data for the period 1957-2020 (where available) are included

Multi-laboratory compilation of atmospheric carbon dioxide data for the period 1957-2020 [Dataset]

This product is constructed using the Observation Package (ObsPack) framework [Masarie et al., 2014; www.earth-syst-sci-data.net/6/375/2014/]. The framework is designed to bring together atmospheric greenhouse gas (GHG) observations from a variety of sampling platforms, prepare them with specific applications in mind, and package and distribute them in a self-consistent and well-documented product. ObsPack products are intended to support GHG budget studies and represent a new generation of cooperative value-added GHG data products. This product includes 524 atmospheric carbon dioxide datasets derived from observations made by 63 laboratories from 21 countries. Data for the period 1957-2020 (where available) are included