Role of asthma camp in improving the overall health of children with asthma.

This study sought to evaluate the benefit of asthma camp for patients who attended Baylor Scott & White McLane Children's Medical Center's Camp Wheeze Away in July 2016. Data were collected on children aged 8 to 15 years who were diagnosed with asthma and attended asthma camp. Information on body mass index, hospital admissions, and emergency department visits was collected 1 year before and 1 year after camp. Asthma control tests, exhaled nitric oxide tests, and pulmonary function tests were administered at the beginning and end of camp. A total of 34 children with asthma (mean age 11 [±2] years) were included in this study. Postcamp asthma-related hospitalizations and emergency department visits decreased. Mean asthma control scores improved from 20.4 (±3.2) before camp to 23.4 (±2.8) after camp (P < 0.0001). Forced expiratory volume during the first breath and forced expiratory flow at 25% to 75% of the pulmonary volume improved during the weeklong camp (P = 0.04 and 0.0007, respectively). Forced expiratory volume during the first breath further improved 6 to 12 months after camp compared to values before camp (P = 0.047). Exhaled nitric oxide levels improved from the first to last day of camp by decreasing an average of 39% (P = 0.0009). This study showed the positive effect that a short-term educational intervention in a camp setting had on asthma control scores and asthma knowledge.

Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.

Turner syndrome and pituitary adenomas: a case report and review of literature.

BACKGROUND: Turner syndrome (TS) is the most common sex chromosome abnormality in females, typically associated with primary amenorrhea and premature ovarian failure due to gonadal dysgenesis. The association of TS with hypopituitarism is an uncommon finding. The objective of the study was to describe an adolescent with TS with hypergonadotropic hypogonadism and subsequent hypogonadotropic hypogonadism. CASE PRESENTATION: A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO. Other laboratory values included FSH 45.52 IU/L, LH 17.4 IU/L, undetectable estradiol, and prolactin 1.08 nmol/L. Two months later and before treatment, she presented with severe headache and a new left cranial nerve VI palsy. Brain MRI showed a 2.7-cm hemorrhagic pituitary macroadenoma expanding the sella. Laboratory evaluation showed FSH 5.9 IU/L, LH 0.9 IU/L, prolactin 0.09 nmol/L, and GH 1.03 ng/mL. She underwent transphenoidal hypophysectomy, and pathology revealed pituitary adenoma with immunohistochemical staining positive for growth hormone and prolactin. She subsequently developed multiple pituitary hormone deficiencies. Review of the literature identified eight case reports of women with TS who developed pituitary adenomas. CONCLUSIONS: This case illustrates an uncommon co-occurrence of TS and pituitary macroadenoma. Sequential gonadotropin measurements demonstrate the evolution of hypergonadotropic hypogonadism into hypogonadotropic hypogonadism due to hemorrhagic pituitary macroadenoma.

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.

BACKGROUND: Lipoprotein Lipase (LPL) deficiency is a rare autosomal recessive disorder with a heterogeneous clinical presentation. Several mutations in the LPL gene have been identified to cause decreased activity of the enzyme. FINDINGS: An 11-week-old, exclusively breastfed male presented with coffee-ground emesis, melena, xanthomas, lipemia retinalis and chylomicronemia. Genomic DNA analysis identified lipoprotein lipase deficiency due to compound heterozygosity including a novel p.Q240H mutation in exon 5 of the lipoprotein lipase (LPL) gene. His severe hypertriglyceridemia, including xanthomas, resolved with dietary long-chain fat restriction. CONCLUSIONS: We describe a novel mutation of the LPL gene causing severe hypertriglyceridemia and report the response to treatment. A review of the current literature regarding LPL deficiency syndrome reveals a few potential new therapies under investigation.

Occult hepatitis B virus infection among blood donors in Colombia.

BACKGROUND: Hepatitis B virus (HBV) surface antigen (HBsAg) screening in blood banks reduced the risk of HBV transmission through transfusion. However, the detection of occult HBV infection among blood donors is imperative for improving blood safety. The aim of this study was to determine the frequency of occult hepatitis B virus infection among blood donors in Medellin, North West Colombia and to characterize the viral genotypes and mutations. METHODS: Serum samples from blood donors with the serological profile HBsAg-/Anti-HBc+ were evaluated by nested or hemi-nested PCR for HBV genome ORF C, ORF S and ORF X. A pairwise analysis was carried out with deduced amino acids sequence of overlapping S/P region. RESULTS: A total of 302 serum samples HBsAg-/Anti-HBc+ from donors recruited in a blood bank in Medellin were evaluated by PCR for the HBV genome. Six samples (1.98%) were identified as occult HBV infection. The cases were confirmed by sequencing and viral load analysis. All HBV strains were genotype F, subgenotype F3. The amino acid substitutions sY100H, sV184A, and sK141N were detected in ORF S and rtL108P, rtR110G, rtL180M, rtR192C, rtT150S, and rtL187V in ORF P. CONCLUSIONS: This is the first report and characterization of OBI cases in blood donors in Colombia. Six from 302 donors HBsAg-/Anti-HBc+ were identified. The mutations rtL108P, rtR110G, rtR192C, rtT150S and rtI187V were characterized for the first time in these samples. Further studies are necessary to explore if these mutations could potentially impair HBsAg production.

Frecuencia de hmmoparásitos en bovinos del bajo cauca y alto san jorge, 2000-2005 / Frequency of hmooparasites of bovines from cauca and san jorge rivers, 2000-2005

Objetivo. Determinar la frecuencia de hemoparásitos en los bovinos evaluados por microscopía directa. Materiales y métodos. Se aplicó un modelo epidemiológico cuyo diseño de investigación fue transeccional de tipo descriptivo retrospectivo transversal. Se analizó la totalidad de los datos de los últimos 5 años, proporcionados por el laboratorio Lavebac que presta su servicio a las regiones del Bajo Cauca Antioqueño y Córdoba. Se realizó un análisis de tendencias por el tipo de parásito, sistema de explotación, procedencia y época climática; seguido de un análisis comparativo de asociación utilizando la razón de disparidad (RD) y el X², mediante el programa EPI-INFO versión 3.3. Resultados. Se encontró una frecuencia hemoparasitaria del 22.5%, y de estos el 59.3% correspondió a Anaplasma sp, el 3.1% a Babesia sp y para Trypanosoma sp 30.9%. La región con mayor frecuencia hemoparasitaria fue Bajo Cauca (14%); los diagnósticos positivos fueron realizados con mayor frecuencia en época seca (14.9%), en la que se detectó mayor proporción de infección por Anaplasma sp. Conclusiones. Los resultados dan una aproximación a la frecuencia y distribución de Trypanosoma sp, Babesia sp y Anaplasma sp en dos zonas ganaderas de Colombia, en donde durante la época seca se encontró un mayor porcentaje de infección, y de los agentes hemoparasitarios Anaplasma sp es el más frecuente.

Objective. To determine the frequency of hemoparasites in bovines evaluated by direct microscopy. Materials and methods. A descriptive retrospective cross study was carried out. All the data of the last 5 years from the Lavebac laboratory was analyzed. This laboratory offers its services in the Cauca-Medio Antioqueño and the Department of Cordoba. A frequency analysis was conducted, taking into consideration the type of parasite, the type of cattle operation, origin and season. Comparative analyses using odds ratios were conducted using EPIINFO, version 3.3. Results. The frequency of hemoparasitism was 22.5%. Of these 59.3% of parasites were Anaplasma sp, 3.1% were Babesia sp and 30.9% were Trypanosoma sp. The positive diagnostics occurred more frequently in the dry season (14.9%) in which a higher frequency of infection by Anaplasma sp. was detected. Conclusions. These results allow an approximation to the frequency and distribution of Trypanosoma sp, Babesia sp and Anaplasma sp in two cattle raising regions of Colombia. A higher percentage of hemoparasite infection was found during the dry season, and Anaplasma sp was the most frequent of parasite.