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Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Top 30 Publications

Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain.

Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain.

Gene Therapy as a Curative Option for β-Thalassemia.

Revision surgery after rod breakage in a patient with occipitocervical fusion: A case report.

Rod breakage after occipitocervical fusion (OCF) has never been described in a patient who has undergone surgery for basilar invagination (BI) and atlantoaxial dislocation (AAD). Here, we present an unusual but significant case of revision surgery to correct this complication.

Progressive cystic lesion in a middle-aged patient with tuberous sclerosis complex: A case report.

Tuberous sclerosis complex (TSC) is an uncommon multiple systems disorder. The main characteristics of the disease in the central nervous system include cortical or subcortical tubers, subependymal nodules, and subependymal giant cell astrocytoma. However, progressive cystic lesions in the cerebral hemispheres have rarely been reported in previous studies of TSC.

Ascending aortic dilation in adult patients with congenital ventricular septal defect: An observational study.

Many adult patients with congenital ventricular septal defect (VSD) also developed ascending aortic dilation, but few report the clinical features and surgical management of these patients. This study was designed to study ascending aortic dilation in adult patients with congenital VSD, and summarized the treatment experience and prognosis.To assess the clinical features and surgical management, we performed a retrospective analysis on preoperative data, intraoperative data, and postoperative data from the adult patients with congenital VSD who developed ascending aortic dilation in our institution from February 2010 to December 2016.From February 2010 to December 2016, we operated on 13 adult patients (12 males, 92.31%) with VSD who developed ascending aortic dilation. Median age was 37 (interquartile range 14) years. All patients suffered from perimembranous VSD and received surgical treatment. Their symptoms were all improved after surgery, no deaths occurred.Surgery is feasible for the ascending aortic dilation in adult patients with congenital VSD. Both proper perioperative treatment and close monitoring are required for the successful surgery.

Acquired diaphragmatic hernia in pediatrics after living donor liver transplantation: Three cases report and review of literature.

Diaphragmatic hernia (DH) in pediatrics following living donor liver transplantation (LDLT) has been seldom reported in the past.

Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report.

Pantothenate kinase-associated neurodegeneration (PKAN) represents an autosomal recessive hereditary disease. In this report, a PANK2 gene mutation in a Chinese child was identified, as well as detections of PKAN among his family members. Our findings exposed a world-wide novel compound heterozygous mutation.

Occipital epilepsy versus progressive myoclonic epilepsy in a patient with continuous occipital spikes and photosensitivity in electroencephalogram: A case report.

Progressive myoclonic epilepsy (PME) is rare epilepsy syndrome. Although EEG is a useful neurophysiological technique in the evaluation of epilepsy, few EEG abnormalities have been described in PME. So, how to use EEG hints to establish the suspected diagnosis of PME as soon as possible should be addressed.

DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy.

Turning the backbone into an ankylosed concrete-like structure: Case report.

Progressive restriction of the spinal bio-mechanics is not-uncommon deformity encountered in spine clinics. Congenital spinal fusion as seen in Klippel-Feil-anomaly, progressive non-infectious anterior vertebral fusion, and progressive spinal hyperostosis secondary to ossification of the anterior longitudinal spinal ligament are well delineated and recognized.

A case report of frozen elephant trunk combined with endovascular treatment for acute aortic dissection of Kommerell's diverticulum involving right aortic arch and descending aorta.

Acute aortic dissection of Kommerell's diverticulum in the right aortic arch is extremely rare. There are several different procedures for the disease. With advances in endovascular treatment, hybrid surgical and endovascular management may provide a treatment of choice for this kind of disease.

Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.

Although fetal cardiac rhabdomyoma can be the initial finding in patients with tuberous sclerosis complex (TSC), the challenges of precise genetic diagnosis of TSC can now be potentially overcome by new whole or targeted genomic sequencing. The goals of this study were to investigate the correlation between suspected cardiac rhabdomyoma and TSC to provide the information for a prenatal diagnosis of TSC and to validate the TSC genotype in this cohort of fetuses with suspected prenatal cardiac rhabdomyoma.We retrospectively analyzed 10,728 fetal echocardiograms from January 2013 to March 2016 in our institution. A total of 32 fetuses were suspected of having cardiac rhabdomyomas. Among them, 15 subjects met the inclusion criteria and provided written consent. Samples from fetuses (n = 13 after terminations) and newborns (n = 2) were available for targeted genomic sequencing of the exons and introns of the TSC1 and TSC2 genes and the adjacent 10 base pairs and for validated studies using Sanger sequencing.Among the 15 subjects with suspected cardiac rhabdomyoma and TSC genomic sequencing data, 7 subjects were familial and 8 subjects were sporadic cases. Fetal echocardiography showed a single tumor in 2 fetuses and multiple tumors in 13 fetuses. Gene sequencing analysis showed no mutation of the TSC1 or TSC2 gene in 2 subjects with a single tumor but positive mutations in all 13 subjects with multiple tumors. Among the latter, 5 mutations were "pathogenic" and have been previously reported (4 familial and 1 sporadic). Six new mutations were "likely pathogenic" and had not been previously reported (3 familial and 3 sporadic); 1 was of "uncertain significance" (sporadic), and 1 was suspected of being "likely benign" (sporadic).Prenatal suspected cardiac rhabdomyoma detected by fetal echocardiography should raise the suspicion of TSC. In fetuses with multiple tumors, especially the familial cases, genomic sequencing has a high yield of detecting TSC-causing genes. Patient history, prenatal fetal echocardiography, and targeted genomic sequencing may facilitate screening for, diagnosis of, and counseling for TSC.

Prenatal screening for atypical chromosomal abnormalities: past or future?

Cooling Therapy for Neonatal Encephalopathy in Low- and Middle-income Countries.

Inborn Errors of Metabolism in the Emergency Department (Undiagnosed and Management of the Known).

An inborn error of metabolism should be considered in any neonate who presents to the emergency department in extremis and in any young child who presents with altered mental status and vomiting. In children with unknown diagnoses, it is crucial to draw the appropriate laboratory studies before the institution of therapy, although treatment needs rapid institution to mitigate neurologic damage and avoid worsening metabolic crisis. Although there are hundreds of individual genetic disorders, they are roughly placed into groups that present similarly. This article reviews the approach to the patient with unknown metabolic diagnosis and up-to-date management pearls for children with known disorders.

The Role of the Clinical Nurse Specialist From the Perspective of Parents of Children Born With Cleft Lip and/or Palate in the United Kingdom: A Qualitative Study.

This qualitative study explores parents' perspectives of the clinical nurse specialist (CNS) after diagnosis of cleft lip and/or palate and while preparing for/after lip or palate closure and other events on the cleft treatment pathway in the United Kingdom.

Intraplacental choriocarcinoma coexisting with fetomaternal hemorrhage: Case report, chemotherapy management, and literature review.

Near-term intraplacental choriocarcinoma (IC) coexisting with massive fetomaternal hemorrhage (FMH) is rare, and its clinical course is poorly understood. Here, we report a new case from our hospital, with detailed discussion and literature review.

Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.

Camurati-Engelmann disease is an extremely rare disease characterized by hyperostosis of multiple long bones. This condition is caused by heterozygous mutations in the TGFB1 gene.

Neonatal Abstinence Syndrome: Advances in Diagnosis and Treatment.

Neonatal abstinence syndrome, which occurs as a result of in utero opioid exposure, affects between 6.0 and 20 newborns per 1000 live US births. There is substantial variability in how neonatal abstinence syndrome is diagnosed and managed.

Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment.

Evaluation of clinical findings and audiological outcome after surgery in a Danish family with autosomal dominant facio-audio-symphalangism syndrome with stapes fixation, syndactyly and symphalangism.

Effect of early correction of nasal septal deformity in unilateral cleft lip and palate on inferior turbinate hypertrophy and nasal patency.

A relatively neglected aspect of cleft lip nasal deformity is the effect of septal deviation and inferior turbinate hypertrophy (ITH) on the functional airway. In particular, ITH in the noncleft side can be especially problematic, because it reduces the healthy nasal area, creating bilateral nasal obstruction that might affect the growth of the maxillofacial skeleton. Although these anatomic and functional changes are documented, few recommendations have been developed regarding the proper approach to ITH. The aim of the present study was to asses the ITH severity and determine the degree of nasal airway patency in patients who have undergone primary correction of the nasal septum during lip repair compared to patients operated on without primary septal correction.

Open resection and laryngotracheal reconstruction in a case of subglottic hemangioma in PHACE syndrome.

We describe a 1 month old infant with PHACE syndrome who underwent successful management of subglottic hemangioma by open resection and laryngotracheal reconstruction using a thyroid ala graft. Propranolol is typically the treatment of choice for subglottic hemangiomas however, recent reports have suggested adverse complications with the use of propranolol in children with PHACE syndrome. The child had cerebral and cervical vascular anomalies associated with her PHACE syndrome making her at an increased risk of stroke with the use of propranolol.

What parents are reading about laryngomalacia: Quality and readability of internet resources on laryngomalacia.

The goal of this study is to measure the quality and readability of websites related to laryngomalacia, and to compare the quality and readability scores for the sites accessed through the most popular search engines.

Systematic review/meta-analysis comparing successful outcomes after single vs. double-stage laryngotracheal reconstruction.

To compare operation-specific decannulation rates between single-stage (SSLTR) and double-stage laryngotracheal reconstruction (DSLTR) when controlling for grade of airway stenosis.

Development and validation of a quality of life instrument for patients with laryngeal cleft.

To develop and validate a novel pediatric health-related quality of life (HR-QoL) instrument for patients with laryngeal cleft and their families.

Dentoskeletal effects of facemask therapy in skeletal Class III cleft patients with or without bone graft.

The association between maxillary protraction and bone graft in patients with cleft lip and palate remains unclear. The purpose of this study was to investigate whether a secondary alveolar bone graft influences dentoskeletal effects of facemask therapy in unilateral cleft lip and palate patients with a skeletal Class III relationship.

Influence of nasoalveolar molding on skeletal development in patients with unilateral cleft lip and palate at 5 years of age.

The aim of this retrospective study was to assess the influence of presurgical nasoalveolar molding (NAM) on skeletal development in patients with operated unilateral cleft lip and palate at 5 years of age.

Alobar holoprosencephaly associated with diabetes insipidus and hypothyroidism in a 10-month old infant.

Holoprosencephaly (HPE) is a serious brain malformation due to a failure of medial forebrain cleavage. This is an abnormality which is more often associated with craniofacial malformations, psychomotor development delay, diabetes insipidus and variable endocrine disorders. It is due to different causes including chromosomal abnormalities (trisomy 13, 18)and polymalformative syndromes (CHARGE Syndrome). Diagnosis is based on brain imaging. A few rare cases have been described in the literature. We here report the case of alobar HPE in a 10-month old infant. Diagnosis was based on cerebral CT scan performed due to delayed psychomotor development and in the absence of visible malformations. Endocrine assessment allowed to detect central diabetes insipidus and central hypothyroidism, probably of hypothalamic origin.

Pepper's syndrome: report of two cases at the Charles de Gaulle University Pediatric Hospital Center, Ouagadougou (Burkina Faso).

Pepper's syndrome is a neuroblastoma that metastasizes to the liver. It affects infants younger than six months of age. It can regress spontaneously and is associated with a favorable prognosis in 80% of cases. Given its rarity, we here report two cases of Pepper's syndrome observed at the Charles de Gaulle university pediatric hospital center, Ouagadougou (Burkina Faso). Our study involved two female infants in whom the disease manifested as an increase in abdominal volume, hepatomegaly and signs of respiratory distress. Ultrasound enabled diagnosis, which was based on the nodular appearance of the liver in both cases and determination of the primary tumor in one case. Urinary catecholamine test confirmed the diagnosis in one case. Both patients died from complications related to liver compression, chemotherapy (in one of the cases) and lack of treatment (in the other case).