A strictly biochemical and neurological follow up was performed and no sign of neurological impairment was observed. Conclusions Prompt diagnosis and treatment of CTX presenting as neonatal cholestasis may prevent further neurological impairment.Background Branchio-oculo-facial syndrome (BOFS) is a rare congenital developmental disorder with highly variable clinical phenotypes in autosomal dominant inheritance. The aim of this study is to identify disease-causing mutations in a Chinese family with predominant coloboma of choroid. Case report We described a family (a mother and her daughter) with unclear clinical diagnosis. The mother (proband) presented with bilateral coloboma of choroid, whereas her daughter had a relatively severe phenotype and presented with larger bilateral choroid coloboma and high-vaulted arch. We applied the next generation sequencing (NGS) panel and analyzed 776 genes related to inherited ocular disorders on the proband. Four candidate heterozygous variants in four genes, respectively, were detected in the proband. Validation of these variants were subsequently performed in the family using Sanger sequencing. Among these variants, a novel nonsense mutation c.912C>A, p.(Cys304*) (NM_001042425.2) which in exon 6 of the conserved helix-span-helix domain in TFAP2A results in a premature termination codon. It may trigger nonsense-mediated mRNA decay (NMD). Both the affected mother and daughter had this variant, whereas it was absent in the asymptomatic father. Together with the silicon tools and clinical features, we concluded that the variant c.912C>A, p.(Cys304*), was the second reported nonsense mutation in TFAP2A gene, which was the disease-causing mutation of the family. Conclusion There are many hereditary diseases accompanied by ocular anomalies. For instance, BOFS, patients with atypical features are always at risk of being under-diagnosed. NGS is a powerful method to identify the genetic cause and improve genetic counseling for less clarified hereditary ocular diseases.Dysfunctional breathing (DB) is an overarching term describing deviations in the normal biomechanical patterns of breathing which have a significant impact on quality of life, performance and functioning. Whilst it occurs in both children and adults, this article focuses specifically on children.  https://www.selleckchem.com/products/a-769662.html  DB can be viewed as having two components; breathing pattern disorder (BPD) and inducible laryngeal obstruction (ILO). They can be considered in isolation, however, are intricately related and often co-exist. When both are suspected, we propose both BPD and ILO be investigated within an all-encompassing multi-disciplinary dysfunctional breathing clinic. The MDT clinic can diagnose DB through expert history taking and a choice of appropriate tests/examinations which may include spirometry, breathing pattern analysis, exercise testing and laryngoscopic examination. Use of the proposed algorithm presented in this article will aid decision making regarding choosing the most appropriate tests and understanding the diagnos therapist or psychologist depending on the dominant features of the DB presentation (i.e., BPD or ILO in combination or in isolation) and some patients will benefit from input from more than one of these disciplines. An individualized treatment program based on expert assessment and personalized goals will result in a return to normal function with reoccurrence being rare.Background Currently, the first line treatment of persistent ductus arteriosus (PDA) is either indomethacin or ibuprofen. However, the potentially life-threatening side effects associated to their use have prompted physicians to look for alternative options. The incorporation of paracetamol as an alternative to ibuprofen in the management of PDA is still based on insufficient clinical evidence. Hence, more clinical trials are needed to establish a therapeutic role for paracetamol in the management of PDA that take into consideration short- and long-term safety and efficacy outcomes. Study Design This is a non-inferiority, randomized, multicenter, double-blinded study to evaluate the efficacy, and safety of intravenous (IV) paracetamol vs. IV ibuprofen (standard treatment) for PDA in preterm patients with a gestational age ≤ 30 weeks. At baseline, patients will be randomized (11) to treatment with paracetamol or ibuprofen. The primary endpoint is closure of the ductus after the first treatment course. Secondary endpoints are related to effectiveness (need for a second treatment course, rescue treatment, reopening rate, time to definitive closure, need for surgical ligation), safety (early and long-term complications), pharmacokinetics, and pharmacodynamics, pharmacogenetics, pharmacoeconomics, and genotoxicity. Long-term follow-up to 24 months of corrected postnatal age will be performed using Bayley III neurodevelopmental scale. Trial Registration ClinicalTrials.gov Identifier NCT04037514. EudraCT 2015-003177-14.Background Pulmonary artery banding (PAB) is reported as an innovative strategy for children with end-stage heart failure (ESHF) to bridge to transplantation or recovery. We report our early experience with PAB to evaluate outcomes, indications, and limitations. Materials and Methods This is a single-center prospective clinical study, including infants and children admitted for ESHF owing to dilated cardiomyopathy (DCM) with preserved right ventricular function after failure of maximal conventional therapy. All patients underwent perioperative anticongestive medical therapy with ACE inhibitor, beta blocker, and spironolactone. Post-operatively, all patients underwent echocardiographic follow-up to assess myocardial recovery. Results We selected five patients (four males) who underwent PAB at a median age of 8.6 months (range 3.9-42.2 months), with preoperative ejection fraction (EF) less then 30%. Sternal closure was delayed in all. One patient did not improve after PAB and underwent Berlin Heart implantation after 33 days, followed by heart transplant after 13 months. Four patients were discharged home on full anticongestive therapy. However, 2 months after discharge, one patient experienced severe acute heart failure secondary to pneumonia, which required mechanical circulatory support, and the patient underwent a successful heart transplant after 21 days. The remaining three patients are doing well at home, 22.4, 16.9, and 15.4 months after PAB. They all underwent elective percutaneous de-banding, 18.5, 4.8, and 10.7 months after PAB. EF increased from 17.7 ± 8.5% to 63.3 ± 7.6% (p = 0.03), and they have all been delisted. Conclusion Use of PAB may be an effective alternative to mechanical support in selected infants for bridging to transplant or recovery. Better results seem to occur in patients aged less then 12 months. Further experience and research are required to identify responders and non-responders to this approach.