PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

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

Long-Term Effects of Inhaled Budesonide for Bronchopulmonary Dysplasia.

The long-term effects on neurodevelopment of the use of inhaled glucocorticoids in extremely preterm infants for the prevention or treatment of bronchopulmonary dysplasia are uncertain.

Catheter ablation of premature ventricular contractions originating from aortic sinus cusps in a patient with dextrocardia and situs solitus: A case report.

Premature ventricular contractions (PVCs) originating from aortic sinus cusps is not infrequent and can be eliminated effectively by radiofrequency ablation with rare complications. However, after a review of the medical literature, and to our knowledge, this is the first case of successful idiopathic aortic sinus cusps-PVC-ablation using a 3-dimensional (3D) mapping system in an adult with dextrocardia.

Inferior mesenteric arteriovenous fistula with nonpulsatile abdominal mass: A case report and a mini-review.

Inferior mesenteric arteriovenous fistula (IMAVF) is a rare condition principally characterized by portal hypertension and ischemic bowel disease. Up to now, only 30 cases have been reported. Presented here is an IMAVF patient with nonpulsatile abdominal mass as the main manifestation.

Two-stage hybrid treatment strategy for an adult patient with aortic arch coarctation, poststenotic aneurysm, and hypoplastic left subclavian artery: A case report.

Coarctation of aorta in adulthood is usually complicated by other cardiovascular anomalies, posing great technical challenge for intervention.

Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.

Poland Syndrome.

Pediatric laryngeal cleft repair and dysphagia.

To describe changes in diet and swallow function in patients with a laryngeal cleft after surgical repair of the laryngeal cleft.

Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold.

SLC52A2 mutations cause SCABD2 phenotype: A second report.

Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs are heterogeneous with respect to age at onset, severity of disease progression, and frequency of extracerebellar and systemic signs.

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia. CAPOS syndrome should be considered in the differential diagnosis of acquired childhood deafness, prompting clinicians to search for associated neurological features.

Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing.

The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein terminated in advance, and the other one (c.5994G>A) located near the boundary of exon could cause aberrant splicing. This study provides a meaningful exploration for identification of clinical core genetic pedigrees.

Hearing loss in children with primary ciliary dyskinesia.

To evaluate the type and severity of hearing impairment in pediatric patients with primary ciliary dyskinesia (PCD) and relate these measures to patient demographics, treatment options, and other otologic factors.

A novel technique for unilateral supraglottoplasty.

Traditional supraglottoplasty for pediatric laryngomalacia is most commonly conducted with either CO2 laser or cold steel instruments. While the procedure enjoys high success rates, serious complications such as excessive bleeding, supraglottic stenosis and aspiration can occur. Unilateral coblation supraglottoplasty may reduce this risk, but data on respiratory and swallowing outcomes are lacking. This study reports our experiences with unilateral coblation supraglottoplasty.

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.

Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder.

Congenital respiratory tract disorders in 22q11.2 deletion syndrome.

Respiratory tract disorders have been reported in patients with 22q11.2 deletion syndrome, however infrequently. This study describes the respiratory tract disorders encountered in a cohort of 278 patients with 22q11.2 deletion syndrome.

A patient with mandibular deviation and 3 mandibular incisors treated with asymmetrically bent improved superelastic nickel-titanium alloy wires.

Skeletal and dental discrepancies cause asymmetric malocclusions in orthodontic patients. It is difficult to achieve adequate functional occlusion and guidance in patients with congenital absence of a mandibular incisor due to the tooth-size discrepancy. Here, we describe the orthodontic treatment of a 22-year-old woman with an asymmetric Angle Class II malocclusion, mandibular deviation to the left, and 3 mandibular incisors. The anterior teeth and maxillary canines were crowded. We used an improved superelastic nickel-titanium alloy wire (Tomy International, Tokyo, Japan) to compensate for the asymmetric mandibular arch and an asymmetrically bent archwire to move the maxillary molars distally. A skeletal anchorage system provided traction for intermaxillary elastics, and extractions were not needed. We alleviated the crowding and created an ideal occlusion with proper overjet, overbite, and anterior guidance with Class I canine and molar relationships. This method of treatment with an asymmetrically bent nickel-titanium alloy wire provided proper Class I occlusion and anterior guidance despite the mandibular deviation to the left and 3 mandibular incisors, without the need for extractions.

Trials of Patent Foramen Ovale Closure.

Trials of Patent Foramen Ovale Closure.

Trials of Patent Foramen Ovale Closure.

Choanal Atresia and Craniosynostosis: Development and Disease.

A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.

Teaching Palatoplasty Using a High-Fidelity Cleft Palate Simulator.

Cleft palate repair is a challenging procedure for cleft surgeons to teach. A novel high-fidelity cleft palate simulator has been described for surgeon training. This study evaluates the simulator's effect on surgeon procedural confidence and palatoplasty knowledge among learners.

Thenar Dysplasia in Radial Polydactyly Depends on the Level of Bifurcation.

Little is known about thenar dysplasia in radial polydactyly, other than that thenar hypoplasia occasionally occurs in radial polydactyly with triphalangism. In particular, the phenotype and level of duplication associated with thenar dysplasia remain unclear.

Evaluation of a Transumbilical Incision as an Approach for Organ Removal in Laparoscopy-assisted Colectomy.

To investigate the risk factors of transumbilical incision for organ removal in laparoscopy-assisted colectomy (LAC).

PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. The aim of our single-institution study was the analysis of a cohort of PTCH1-mutated patients in order to define clinical and biomolecular relationship between NBCCS and BFHs.

Quantification of huntingtin protein species in Huntington's disease patient leukocytes using optimised electrochemiluminescence immunoassays.

Huntington's disease (HD) is an autosomal dominant neurodegenerative condition caused by an expanded CAG repeat in the gene encoding huntingtin (HTT). Optimizing peripheral quantification of huntingtin throughout the course of HD is valuable not only to illuminate the natural history and pathogenesis of disease, but also to detect peripheral effects of drugs in clinical trial.

What is a good result after clubfoot treatment? A Delphi-based consensus on success by regional clubfoot trainers from across Africa.

Congenital talipes equino-varus (CTEV), also known as clubfoot, is one of the most common congenital musculoskeletal malformations. Despite this, considerable variation exists in the measurement of deformity correction and outcome evaluation. This study aims to determine the criteria for successful clubfoot correction using the Ponseti technique in low resource settings through Africa.

ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment.

Müllerian agenesis, also referred to as müllerian aplasia, Mayer-Rokitansky-Küster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500-5,000 females. Müllerian agenesis is caused by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. The most important steps in the effective management of müllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies. The psychologic effect of the diagnosis of müllerian agenesis should not be underestimated. All patients with müllerian agenesis should be offered counseling and encouraged to connect with peer support groups. Future options for having children should be addressed with patients: options include adoption and gestational surrogacy. Assisted reproductive techniques with use of a gestational carrier (surrogate) have been shown to be successful for women with müllerian agenesis. Nonsurgical vaginal elongation by dilation should be the first-line approach. When well-counseled and emotionally prepared, almost all patients (90-96%) will be able to achieve anatomic and functional success by primary vaginal dilation. In cases in which surgical intervention is required, referrals to centers with expertise in this area should be considered because few surgeons have extensive experience in construction of the neovagina and surgery by a trained surgeon offers the best opportunity for a successful result.

ACOG Committee Opinion No. 727: Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer.

"Cascade testing" refers to the performance of genetic counseling and testing in blood relatives of individuals who have been identified with specific genetic mutations. Testing protocols and other interventions may save lives and improve health and quality of life for these family members. Obstetrician-gynecologists should know who is eligible for cascade testing and should use all available resources to ensure that cascade testing is offered and occurs in a timely manner. Despite the clear health benefits for specific populations and individuals, obstetrician-gynecologists should be aware of the potential barriers to cascade testing and should know which options can help patients overcome those barriers. Such barriers, however, may be overcome with health care provider awareness and participation in local and state initiatives to improve implementation of cascade testing. Resources (available within federal and state agencies, professional societies, and in advocacy and community groups) are critical to the successful implementation of cascade testing. This Committee Opinion focuses specifically on cascade testing and the role of the obstetrician-gynecologist in clinical and public health efforts to increase identification of women with hereditary cancer syndromes.

ACOG Committee Opinion No. 728 Summary: Müllerian Agenesis: Diagnosis, Management, And Treatment.

Müllerian agenesis, also referred to as müllerian aplasia, Mayer-Rokitansky-Küster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500-5,000 females. Müllerian agenesis is cau0073ed by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. The most important steps in the effective management of müllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies. The psychologic effect of the diagnosis of müllerian agenesis should not be underestimated. All patients with müllerian agenesis should be offered counseling and encouraged to connect with peer support groups. Future options for having children should be addressed with patients: options include adoption and gestational surrogacy. Assisted reproductive techniques with use of a gestational carrier (surrogate) have been shown to be successful for women with müllerian agenesis. Nonsurgical vaginal elongation by dilation should be the first-line approach. When well-counseled and emotionally prepared, almost all patients (90-96%) will be able to achieve anatomic and functional success by primary vaginal dilation. In cases in which surgical intervention is required, referrals to centers with expertise in this area should be considered because few surgeons have extensive experience in construction of the neovagina and surgery by a trained surgeon offers the best opportunity for a successful result.

ACOG Committee Opinion No. 727 Summary: Cascade Testing: Testing Women For Known Hereditary Genetic Mutations Associated With Cancer.

"Cascade testing" refers to the performance of genetic counseling and testing in blood relatives of individuals who have been identified with specific genetic mutations. Testing protocols and other interventions may save lives and improve health and quality of life for these family members. Obstetrician-gynecologists should know who is eligible for cascade testing and should use all available resources to ensure that cascade testing is offered and occurs in a timely manner. Despite the clear health benefits for specific populations and individuals, obstetrician-gynecologists should be aware of the potential barriers to cascade testing and should know which options can help patients overcome those barriers. Such barriers, however, may be overcome with health care provider awareness and participation in local and state initiatives to improve implementation of cascade testing. Resources (available within federal and state agencies, professional societies, and in advocacy and community groups) are critical to the successful implementation of cascade testing. This Committee Opinion focuses specifically on cascade testing and the role of the obstetrician-gynecologist in clinical and public health efforts to increase identification of women with hereditary cancer syndromes.