In utero hematopoietic cell transplantation for the treatment of congenital anomalies

In utero hematopoietic cell transplantation (IUHCTx) is a promising strategy for the treatment of common hematopoietic disorders and for inducing immune tolerance in the fetus. Although the efficacy of IUHCTx has been demonstrated in multiple small and large animal models, the clinical application of this technique in humans has had limited success. Recent studies in mice have demonstrated that the maternal immune system plays a critical role in limiting engraftment in the fetus. This article reviews the therapeutic rationale of IUHCTx, potential barriers to its applications, and recent experimental strategies to improve its clinical success.     

The influence of gestational age,mode of delivery and abdominal wall closure method on the surgical outcome of neonates with uncomplicated gastroschisis

Aim of the study

To evaluate if gestational age (GA), mode of delivery and abdominal wall closure method influence outcomes in uncomplicated gastroschisis (GTC).

Methods

Retrospective review of NICU admissions for gastroschisis, August 2008–July 2016. Primary outcomes were: time to start enteral feeds (on-EF), time to discontinue parenteral nutrition (off-PN), and length of stay (LOS).

Main results

A total of 200 patients with GTC were admitted to our NICU. Patients initially operated elsewhere (n?=?13) were excluded. Patients with medical/surgical complications (n?=?62) were analyzed separately. The study included 125 cases of uncomplicated GTC. There were no statistically significant differences in the outcomes of patients born late preterm (34 0/7–36 6/7; n?=?70) and term (n?=?40): on-EF 19 (5–54) versus 17 (7–34) days (p?=?0.29), off-PN 32 (12–101) versus 30 (16–52) days (p?=?0.46) and LOS 40 (18–137) versus 37 (21–67) days (p?=?0.29), respectively. Patients born before 34 weeks GA (n?=?15) had significantly longer on-EF, off-PN and LOS times compared to late preterm patients: 26 (12–50) days (p?=?0.01), 41 (20–105) days (p?=?0.04) and 62 (34–150) days (p?<?0.01), respectively. There were no significant differences in outcomes between patients delivered by C-section (n?=?62) and patients delivered vaginally (n?=?63): on-EF 20 (5–50) versus 19 (7–54) days (p?=?0.72), off-PN 32 (12–78) versus 33 (15–105) days (p?=?0.83), LOS 42 (18–150) versus 41 (18–139) days (p?=?0.68), respectively. There were significant differences in outcomes between patients who underwent primary reduction (n?=?37) and patients who had a silo (88): on-EF 15 (5–37) versus 22 (6–54) days (p?<?0.01), off-PN 28 (12–52) versus 34 (15–105) days (p?=?0.04), LOS 36 (18–72) versus 44 (21–150) days (p?=?0.04), respectively.

Conclusion

In our experience, late preterm delivery did not affect outcomes compared to term delivery in uncomplicated GTC. Outcomes were also not influenced by the mode of delivery. Patients who underwent primary reduction had better outcomes than patients who underwent silo placement.

     

Preschool neurological assessment in congenital diaphragmatic hernia survivors: Outcome and perinatal factors associated with neurodevelopmental impairment

Objective

To evaluate the preschool neurodevelopmental outcome in CDH survivors between 2 and 5 years of age and to identify perinatal and postnatal factors that may be predictive of persistent neurological deficits.

Methods

The study cohort consists of 60 CDH survivors that were enrolled in our prospective, follow-up program between January 2006 and September 2012. Developmental assessment of study participants between 2 and 3 years of age was performed using the Bayley Scales of Infant Development, 3rd Edition (BSID-III). Cognitive outcomes of CDH children older than 3 years of age were evaluated using The Wechsler Preschool and Primary Scale of Intelligence, 3rd Edition (WPPSI-III). Neurodevelopmental delay was defined by a score of ≤ 85 in any of the evaluated composite scores. Severe impairments were defined as a score of ≤ 69 in at least one domain tested.

Results

Mean follow-up for children assessed by BSID-III (n = 42) and WPPSI-III (n = 18) was 28 ± 4.5 months and 58 ± 4.0 months, respectively. As a group, mean composite and subdomain BSID-III and WPPSI-III scores were within the expected normal range. For the BSID-III group, 9 (22%) had mild deficits in at least one domain, and 6 (14%) had severe deficits in at least one. Only 3 (7%) patients demonstrated severe neurological delays for all BSID-III composite scales. For the WPPSI-III group, 4 (22%) patients scored within the borderline-delayed range for at least one subscale and only one (6%) child had a WPPSI-III VIQ score in the severe delay range. Abnormal muscle tonicity was found in 35% (hypotonicity 33%, hypertonicity 2%). Need for ECMO, prolonged ventilation, hypotonicity, and other surrogate markers of disease severity (P < 0.05) were associated with borderline or delayed neurological outcome.

Conclusion

The majority of CDH children are functioning in the average range at early preschool and preschool age. Neuromuscular hypotonicity is common in CDH survivors. CDH severity appears to be predictive of adverse neurodevelopmental outcome.     

Phage typing in dermatitis cruris pustulosa et atrophicans: does staphylococcal carrier status have a role?

Background Dermatitis cruris pustulosa et atrophicans (DCPA) is a form of chronic folliculitis of the legs with a multifactorial etiopathogenesis, seen primarily in tropical countries. Staphylococcus aureus has been isolated from the pustules in earlier studies, although the organisms isolated have not been further characterized. Materials and methods Patients with DCPA, who attended the Dermatology outpatient clinic at JIPMER, Pondicherry, India, during the study period (December 2006–June 2008) were included. Pus from the lesions as well as swabs from carrier sites (nares, axillae, and gluteal fold) were cultured. Staphylococcus aureus isolates were subjected to phage typing at the National Staphylococcal Phage Typing Center, Department of Microbiology, Maulana Azad Medical College, New Delhi, India. Results Thirty‐seven patients were included in the study. Pus from the folliculitic lesions grew S. aureus in 32 (86.49%) patients. Based on the comparison of antibiotic sensitivity patterns, isolates from pus and carrier sites were found to be similar in 15 patients. Phage typing established the organism to be identical in five of these patients. Conclusions Characterization of S. aureus in DCPA shows that there is no specific phage type that is uniformly responsible for the lesions in most patients. However, in view of the unclear etiology of this condition, the pathogenicity of a staphylococcal carrier state in individual patients needs to be addressed.     

Squamous cell carcinoma complicating epidermolysis bullosa in a 6-year-old girl

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare form of epidermolysis bullosa (EB) that presents with generalized blistering since birth. Squamous cell carcinoma (SCC) is the most common cutaneous malignancy seen in RDEB, starting from second decade onwards. We report a case of SCC complicating RDEB in a 6-year-old girl.