SFTPC (surfactant protein C) mutations resulting in SP-C deficiency causing ongoing respiratory failure in the neonatal period represent a rare entity. We report a full-term female infant who developed respiratory distress and respiratory failure shortly after birth. From the first day of life the infant was mechanically ventilated. Application of exogenous surfactant or cortisone did not lead to any clinical improvement. Genetic analysis identified a novel SFTPC mutation as the cause of her lung disease. The patient was diagnosed as heterozygous for a p.Cys121Gly/C121G substitution encoded by exon 4, which could not be detected in both parents. Experimental therapy with hydroxychloroquine resulted in a significant clinical improvement within 2 weeks time. Mechanical ventilation was no longer needed, and the patient was discharged without additional oxygen demand. The patient remained well under therapy till the age of 6 months. After that time, the therapy was successfully discontinued.
Background: Heroin-assisted treatment (HAT) is a new form of treatment for heroin-dependent patients not responding to conventional interventions such as methadone maintenance treatment. No pregnancies or births under HAT have been reported until now. Case: The pregnancy course of a 31-year-old severely dependent multi-morbid woman receiving HAT and the birth of a healthy baby after premature delivery is described. HAT helped to reduce the use of illicit substances both before and during pregnancy. The neonatal abstinence syndrome was clinically well compensated. Conclusion: HAT seems to be feasible in pregnant women and normal birth is possible under HAT, which therefore may act as a harm reduction measure for polydrug-using pregnant women not responding to methadone maintenance treatment.
Purpose In Middle Europe developmental dysplasia of the hip (DDH) has an incidence of up to 5.9 %. The rate of congenital hip dislocation as the worst complication of a growth disorder of the hip is between 1.5 % and 2.5 %. Among known risk factors of DDH are breech position, multiples, foot deformities and family history. The aim of this retrospective study was to investigate prematurity as a risk factor for developmental dysplasia of the hip (DDH). Materials and Methods The hips of 283 infants who were born before the 38th week of gestation or earlier, and those of 377 infants who were born after the 37th week of gestation, none of whom had other risk factors for DDH, were compared using the ultrasound technique according to Graf et al., within the first week after birth. Both hips of all infants were included in the study. Results Surprisingly, the difference in alpha angles between the two groups was statistically extremely significant, favoring the preterm infants. Moreover, we found a physiological curve of alpha angle development with a peak after the 31st week of gestation. The incidence of pathological dysplasia was not significantly different in the two groups. Conclusion Our results suggest that prematurity is not a predisposing factor for DDH, but rather is protective for hip development.
BackgroundNeonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar 3 coding gene GLIS3. Almost 20 patients have been reported to date, with significant phenotypic variability.Case presentationWe describe a boy with a homozygous deletion (exons 5-9) in the GLIS3 gene, who presents novel clinical aspects not reported previously. In addition to neonatal diabetes, congenital hypothyroidism and other known multi-organ manifestations such as cholestasis and renal cysts, he suffered from hyporegenerative anemia during the first four months of life and presents megalocornea in the absence of elevated intraocular pressure. Compensation of partial exocrine pancreatic insufficiency and deficiencies in antioxidative vitamins seemed to have exerted marked beneficial impact on several disease symptoms including cholestasis and TSH resistance, although a causal relation is difficult to prove. Considering reports on persistent fetal hemoglobin detected in a few children with GLIS3 mutations, the transient anemia seen in our patient may represent a further symptom associated with either the GLIS3 defect itself or, secondarily, micronutrient deficiency related to exocrine pancreatic deficiency or cholestasis.ConclusionsOur report expands the phenotypic spectrum of patients with GLIS3 mutations and adds important information on the clinical course, highlighting the possible beneficial effects of pancreatic enzyme and antioxidative vitamin substitutions on characteristic NDH syndrome manifestations such as TSH resistance and cholestasis. We recommend to carefully screen infants with GLIS3 mutations for subtle biochemical signs of partial exocrine pancreatic deficiency or to discuss exploratory administration of pancreatic enzymes and antioxidative vitamins, even in case of good weight gain and fecal elastase concentrations in the low-to-normal range.
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