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1.  16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridation (array CGH) in persistent pulmonary hypertension of the newborn 
Report of a 16q24.1 deletion in a premature newborn, demonstrating the usefulness of array-CGH in persistent pulmonary hypertension of the newborn (PPHN) and multiple congenital malformations.
Descriptive case report
Genetic department and neonatal intensive care unit of a tertiary care children’s hospital
We report the case of a preterm male infant, born at 26 weeks of gestation. A cardiac malformation and bilateral hydronephrosis were diagnosed at 19 weeks of gestation. Karyotype analysis was normal and a 22q11.2 microdeletion was excluded by FISH analysis. A Caesarean section was performed due to fetal distress. The patient developed persistent pulmonary hypertension unresponsive to mechanical ventilation and nitric oxide treatment and expired at 16 hours of life. An autopsy revealed partial atrio-ventricular canal malformation and showed bilateral dilatation of the renal pelvocaliceal system with bilateral ureteral stenosis, and annular pancreas. Array-CGH analysis (Agilent oligoNT 44K) showed an interstitial microdeletion encompassing the FOX gene cluster in 16q24.1. Review of the pulmonary microscopic examination showed the characteristic features of alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV). Some features were less prominent due to the gestational age.
Our review of the literature shows that ACD/MPV is rare, but probably underreported. Prematurity is not a usual presentation and histological features are difficult to interpret. In our case, array-CGH revealed a 16q24.1 deletion leading to the final diagnosis of ACD/MPV. It emphasises the usefulness of array-CGH analysis as a diagnostic tool with implications for both prognosis and management decisions in newborns with refractory PPHN and multiple congenital malformations.
PMCID: PMC3655521  PMID: 21572369
persistent pulmonary hypertension of the newborn; alveolar capillary dysplasia with misalignment of pulmonary veins; ACD/MPV; 16q24.1; neonate; array-CGH
2.  Placental Vascular Obstructive Lesions: Risk Factor for Developing Necrotizing Enterocolitis 
Necrotizing enterocolitis (NEC) is a severe neonatal disease affecting particularly preterm infants. Its exact pathogenesis still remains unknown. In this study, we have compared the prevalence of vascular obstructive lesions in placentae of premature newborns which developed NEC and of a control group. We further compared separately the findings of placentae of infants of less than 30 weeks of gestation, the age group in which NEC occurs most frequently. We found signs of fetal vascular obstructive lesions in 65% of the placentae of preterm patients developing NEC, compared to only 17% of the placentae of preterm patients in the control group. In the age groups below 30 weeks of gestation, 58.5% of placentae of later NEC patients presented such lesions compared to 24.5% in the control group. The significant difference between NEC and control group suggests a strong association between fetal vascular obstructive lesions and NEC. Therefore, we propose that fetal vascular obstructive lesions might be considered as a risk factor for the development of NEC in premature infants.
PMCID: PMC2989861  PMID: 21151528
3.  Intestinal Spirochetosis mimicking inflammatory bowel disease in children 
BMC Pediatrics  2012;12:163.
Intestinal spirochetosis is an unusual infection in children and its clinical significance in humans is uncertain. The presence of these microorganisms in humans is well-known since the late 1800’s and was first described in 1967 by Harland and Lee by electron microscopy.
Case presentation
This article reports the findings of one pediatric case, review of the current literature, and an overview of therapeutic options.
A high degree of suspicion is required in cases presenting with abdominal pain, chronic diarrhoea and/or hematochezia associated with a normal endoscopic examination, thus emphasizing the importance of multiple biopsies throughout the colon.
PMCID: PMC3480841  PMID: 23066991
Intestinal spirochetosis; Brachyspira aalborgi; Brachyspira pilosicoli; Inflammatory bowel disease
4.  Role of Waddlia chondrophila Placental Infection in Miscarriage 
Emerging Infectious Diseases  2014;20(3):460-464.
Waddlia chondrophila is an intracellular bacterium suspected to cause human and bovine abortion. We confirmed an association between antibodies against W. chondrophila and human miscarriage and identified this organism in placenta or genital tract of women who had had miscarriages. These results suggest a possible role of W. chondrophila infection in miscarriage.
PMCID: PMC3944840  PMID: 24564950
Waddlia chondrophila; Chlamydia-like bacteria; adverse pregnancy outcome; genital tract infection; intracellular bacteria; bacteria; human placenta; miscarriage
5.  The Channel-Activating Protease CAP1/Prss8 Is Required for Placental Labyrinth Maturation 
PLoS ONE  2013;8(2):e55796.
The serine protease CAP1/Prss8 is crucial for skin barrier function, lung alveolar fluid clearance and has been unveiled as diagnostic marker for specific cancer types. Here, we show that a constitutive knockout of CAP1/Prss8 leads to embryonic lethality. These embryos presented no specific defects, but it is during this period, and in particular at E13.5, that wildtype placentas show an increased expression of CAP1/Prss8, thus suggesting a placental defect in the knockout situation. The placentas of knockout embryos exhibited significantly reduced vascular development and incomplete cellular maturation. In contrary, epiblast-specific deletion of CAP1/Prss8 allowed development until birth. These CAP1/Prss8-deficient newborns presented abnormal epidermis, and died soon after birth due to impaired skin function. We thus conclude that a late placental insufficiency might be the primary cause of embryonic lethality in CAP1/Prss8 knockouts. This study highlights a novel and crucial role for CAP1/Prss8 in placental development and function.
PMCID: PMC3565977  PMID: 23405214
6.  Role of Chlamydia trachomatis in Miscarriage 
Emerging Infectious Diseases  2011;17(9):1630-1635.
TOC Summary: Women experiencing miscarriage should be screened for C. trachomatis.
To determine the role of Chlamydia trachomatis in miscarriage, we prospectively collected serum, cervicovaginal swab specimens, and placental samples from 386 women with and without miscarriage. Prevalence of immunoglobulin G against C. trachomatis was higher in the miscarriage group than in the control group (15.2% vs. 7.3%; p = 0.018). Association between C. trachomatis–positive serologic results and miscarriage remained significant after adjustment for age, origin, education, and number of sex partners (odds ratio 2.3, 95% confidence interval 1.1–4.9). C. trachomatis DNA was more frequently amplified from products of conception or placenta from women who had a miscarriage (4%) than from controls (0.7%; p = 0.026). Immunohistochemical analysis confirmed C. trachomatis in placenta from 5 of 7 patients with positive PCR results, whereas results of immunohistochemical analysis were negative in placenta samples from all 8 negative controls tested. Associations between miscarriage and serologic/molecular evidence of C. trachomatis infection support its role in miscarriage.
PMCID: PMC3322049  PMID: 21888787
Chlamydia trachomatis; abortion; adverse pregnancy outcome; placental infection; sexually transmitted disease; miscarriage; bacteria; research

Results 1-6 (6)