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

Association of congenital anomalies with fracture of spine, trunk, and upper and lower limbs among young people: A population-based matched cohort study in Taiwan.

According to the Traditional Chinese Medicine (TCM) theory, congenital anomalies are caused by kidney malfunctions, which decreased the bone quality, and may eventually result in bone fractures. This retrospective cohort study investigated the relationship between congenital anomalies and fracture of spine, trunk, and upper and lower limbs in young people. We utilized data from the National Health Insurance Research Database of Taiwan. This study included patients with congenital anomalies (International Classification of Diseases/ICD-9 code: 740-759) and a comparison group of patients without congenital anomalies. Cases evaluated were fracture of spine and trunk (ICD-9 codes: 805-809), fracture of upper limbs (ICD-9 codes: 810-819), and fracture of lower limbs (ICD-9 codes: 820-829). Our study shows that in comparison to the control group, patients with congenital anomalies are 1.11 times more likely to develop fractures. This is the first documented research study that supports the TCM theory that "the Kidney governs the bones, and healthy bones give the body stabilization and prevent fracture."

A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China.

Palmoplantar keratoderma (PPK) is a genetically heterogeneous group of skin diseases, which is characterized by erythema and hyperkeratosis. Mal de Meleda (MDM) is a rare type of PPK with an estimated prevalence in the general population of 1 in 100,000.

Surgical treatment for lumbar hyperlordosis after resection of a spinal lipoma associated with spina bifida: A case report.

A hyperlordosis deformity of the lumbar spine is relatively rare, and surgical treatment has not been comprehensively addressed. In this case report, we describe the clinical presentation, surgical treatment, and medium-term follow-up of a patient presenting with a progressive lumbar hyperlordosis deformity after resection of a spinal lipoma associated with spina bifida.

Oral tetrahydrouridine and decitabine for non-cytotoxic epigenetic gene regulation in sickle cell disease: A randomized phase 1 study.

Sickle cell disease (SCD), a congenital hemolytic anemia that exacts terrible global morbidity and mortality, is driven by polymerization of mutated sickle hemoglobin (HbS) in red blood cells (RBCs). Fetal hemoglobin (HbF) interferes with this polymerization, but HbF is epigenetically silenced from infancy onward by DNA methyltransferase 1 (DNMT1).

Buprenorphine for the Neonatal Abstinence Syndrome.

Buprenorphine for the Neonatal Abstinence Syndrome.

Can Left Ventricular Noncompaction Be Acquired, and Can It Disappear?

Pulmonary Right Ventricular Resynchronization in Congenital Heart Disease: Acute Improvement in Right Ventricular Mechanics and Contraction Efficiency.

Electromechanical discoordination may contribute to long-term pulmonary right ventricular (RV) dysfunction in patients after surgery for congenital heart disease. We sought to evaluate changes in RV function after temporary RV cardiac resynchronization therapy.

Buprenorphine for the Neonatal Abstinence Syndrome.

Buprenorphine for the Neonatal Abstinence Syndrome.

Fixed-functional appliance treatment combined with growth hormone therapy.

The purpose of this study was to illustrate the effects of growth hormone (GH) therapy and fixed functional appliance treatment in a 13-year-old Class II malocclusion patient without GH deficiency. GH has been shown to effectively increase endochondral growth and induce a more prognathic skeletal pattern. Although a major concern in Class II retrognathic patients is chin deficiency, long-term studies have shown that the mandibular growth enhancement effects of functional appliances are clinically insignificant. This case report demonstrates that the mandible grew significantly during fixed functional appliance treatment combined with GH therapy, with stable results during 2 years 11 months of retention. More studies are needed to evaluate GH therapy as a supplement in Class II treatment.

Three-dimensional evaluation of the airway spaces in patients with and without cleft lip and palate: A digital volume tomographic study.

Patients with cleft lip and palate (CLP) suffer from several esthetic and functional challenges. Comprehensive treatment of these patients involves orthognathic surgery that may lead to velopharyngeal insufficiency or reduction in lower airway. Several cases of airway insufficiency, velopharyngeal incompetence, snoring, hypopnea, and obstructive sleep apnea have been reported in subjects with CLP. The aim of this study was to compare the anteroposterior dimensions of the oropharyngeal airway at 5 levels, the height of the oropharyngeal column, and the volume of the oropharyngeal airway in subjects with and without CLP.

Bone-anchored maxillary protraction therapy in patients with unilateral complete cleft lip and palate: 3-dimensional assessment of maxillary effects.

The aim of this study was to 3-dimensionally assess the treatment outcomes of bone-anchored maxillary protraction (BAMP) in patients with unilateral cleft lip and palate.

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to 90% of X-linked retinitis pigmentosa (XLRP3) cases, making this gene a high-yield target for gene therapy. This study analyzed the utility of relevant clinical biomarkers to assess symmetry and rate of progression in XLRP3.

Late presentation of developmental dysplasia of the hip : a 15-year observational study.

Despite the presence of screening programmes, infants continue to present with late developmental dysplasia of the hip (DDH), the impact of which is significant. The aim of this study was to assess infants with late presenting dislocation of the hip despite universal clinical neonatal and selective ultrasound screening.

The mucopolysaccharidoses: advances in medical care lead to challenges in orthopaedic surgical care.

The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders with clinical manifestations relevant to the orthopaedic surgeon. Our aim was to review the recent advances in their management and the implications for surgical practice. The current literature about MPSs is summarised, emphasising orthopaedic complications and their management. Recent advances in the diagnosis and management of MPSs include the recognition of slowly progressive, late presenting subtypes, developments in life-prolonging systemic treatment and potentially new indications for surgical treatment. The outcomes of surgery in these patients are not yet validated and some procedures have a high rate of complications which differ from those in patients who do not have a MPS. The diagnosis of a MPS should be considered in adolescents or young adults with a previously unrecognised dysplasia of the hip. Surgeons treating patients with a MPS should report their experience and studies should include the assessment of function and quality of life to guide treatment. Cite this article: Bone Joint J 2017;99-B:1132-9.

Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.

Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients. In this study, we report the clinical outcome of two brothers with familial Mediterranean fever who were the inadvertent donor and recipient, respectively, of a kidney. Subsequently, they were diagnosed with renal amyloidosis secondary to familial Mediterranean fever and were successfully treated with anakinra and colchicine.

Human Brain Abnormalities Associated With Prenatal Alcohol Exposure and Fetal Alcohol Spectrum Disorder.

Fetal alcohol spectrum disorder (FASD) is a common neurodevelopmental problem, but neuropathologic descriptions are rare and focused on the extreme abnormalities. We conducted a retrospective survey (1980-2016) of autopsies on 174 individuals with prenatal alcohol exposure or an FASD diagnosis. Epidemiologic details and neuropathologic findings were categorized into 5 age groups. Alcohol exposure was difficult to quantify. When documented, almost all mothers smoked tobacco, many abused other substances, and prenatal care was poor or nonexistent. Placental abnormalities were common (68%) in fetal cases. We identified micrencephaly (brain weight <5th percentile) in 31, neural tube defects in 5, isolated hydrocephalus in 6, corpus callosum defects in 6 (including some with complex anomalies), probable prenatal ischemic lesions in 5 (excluding complications of prematurity), minor subarachnoid heterotopias in 4, holoprosencephaly in 1, lissencephaly in 1, and cardiac anomalies in 26 cases. The brain abnormalities associated with prenatal alcohol exposure are varied; cause-effect relationships cannot be determined. FASD is likely not a monotoxic disorder. The animal experimental literature, which emphasizes controlled exposure to ethanol alone, is therefore inadequate. Prevention must be the main societal goal, however, a clear understanding of the neuropathology is necessary for provision of care to individuals already affected.

A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.

Mutations in FIG4, coding for a phosphoinositol(3,5) bisphosphate 5' phosphatase and involved in vesicular trafficking and fusion, have been shown causing a recessive form of Charcot-Marie-Tooth (CMT). We have identified a novel intronic mutation in the FIG4 in a wheel-chair bound patient presenting with a severe form of CMT4J and provide a longitudinal study. Investigations indicated a demyelinating sensorimotor polyneuropathy with diffuse active denervation and severe axonal loss. Genetic testing revealed that the patient is heterozygous for 2 FIG4 mutations, p.I41T and a T > G transversion at IVS17-10, the latter predicted to cause a splicing defect. FIG4 was severely diminished in patient's fibroblasts indicating loss-of-function. Consistent with FIG4's function in phosphoinositol homeostasis and vesicular trafficking, fibroblasts contained multiple large vacuoles and vesicular organelles were abnormally dispersed. FIG4 deficiency has implications for turnover of membrane proteins. The transient receptor cation channel, TRPV4, accumulated at the plasma membrane of patient's fibroblasts due to slow turnover. Knocking down Fig4 in murine cultured motor neurons resulted in vacuolation and cell death. Inhibiting TRPV4 activity significantly preserved viability, although not correcting vesicular trafficking. In conclusion, we demonstrate a new FIG4 intronic mutation and, importantly, a functional interaction between FIG4 and TRPV4.

The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene.

WAGR syndrome is characterized by Wilm's tumor, aniridia, genitourinary abnormalities and intellectual disabilities. WAGR is caused by a chromosomal deletion that includes the PAX6, WT1 and PRRG4 genes. PRRG4 is proposed to contribute to the autistic symptoms of WAGR syndrome, but the molecular function of PRRG4 genes remains unknown. The Drosophila commissureless (comm) gene encodes a short transmembrane protein characterized by PY motifs, features that are shared by the PRRG4 protein. Comm intercepts the Robo axon guidance receptor in the ER/Golgi and targets Robo for degradation, allowing commissural axons to cross the CNS midline. Expression of human Robo1 in the fly CNS increases midline crossing and this was enhanced by co-expression of PRRG4, but not CYYR, Shisa or the yeast Rcr genes. In cell culture experiments, PRRG4 could re-localize hRobo1 from the cell surface, suggesting that PRRG4 is a functional homologue of Comm. Comm is required for axon guidance and synapse formation in the fly, so PRRG4 could contribute to the autistic symptoms of WAGR by disturbing either of these processes in the developing human brain.

Lithium Use in Pregnancy and the Risk of Cardiac Malformations.

Lithium Use in Pregnancy and the Risk of Cardiac Malformations.

Kallmann syndrome with a Tyr113His PROKR2 mutation.

Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance.

Classification and possible bacterial infection in outpatients with eczema and dermatitis in China: A cross-sectional and multicenter study.

Little is known about the classification and bacterial infection in outpatients with eczema and dermatitis in China.To investigate the prevalence of eczema and dermatitis in outpatients of dermatology clinics in China, examine classification and proportion of common types of dermatitis and the possible bacterial infection, and analyze the possible related factors.Outpatients with eczema or dermatitis from 39 tertiary hospitals of 15 provinces in mainland China from July 1 to September 30, 2014, were enrolled in this cross-sectional and multicenter study. Among 9393 enrolled outpatients, 636 patients (6.7%) were excluded because of incomplete information.The leading subtypes of dermatitis were unclassified eczema (35.5%), atopic dermatitis (13.4%), irritant dermatitis (9.2%), and widespread eczema (8.7%). Total bacterial infection rate was 52.3%, with widespread eczema, stasis dermatitis, and atopic dermatitis being the leading three (65.7%, 61.8%, and 61.4%, respectively). Clinically very likely bacterial infection has a significant positive correlation with disease duration, history of allergic disease, history of flexion dermatitis, and severe itching.Atopic dermatitis has become a common subtype of dermatitis in China. Secondary bacterial infection is common in all patients with dermatitis, and more attentions should be paid on this issue in other type of dermatitis apart from atopic dermatitis.

Flatfoot in the contralateral foot in patients with unilateral idiopathic clubfoot treated using the foot abduction brace.

While the foot abduction brace (FAB) plays an important role in the Ponseti method, the true function of the FAB in the treatment of idiopathic clubfoot remains unknown. In our clinical experience, we have noted that many patients with unilateral idiopathic clubfoot developed significant flatfoot in the contralateral foot during brace treatment. The purpose of this study was to investigate the natural history of the contralateral foot development during and after brace wear. We also discuss the effect of the FAB on the contralateral foot.We retrospectively reviewed 21 contralateral feet of 21 patients with unilateral idiopathic clubfoot who were treated using the Ponseti method and were conservatively followed up until the FAB was taken off (6 years of age or older). We evaluated flatfoot indicators of the contralateral foot on standing radiographs during and after brace wear and compared them against the normal reference ranges. We also evaluated the changes in the flatfoot indicators of the contralateral foot during and after brace wear.Although there was a significant difference in the flatfoot indicators between the contralateral foot and normal reference ranges during brace wear, there was no significant difference in the flatfoot indicators after brace wear. While there was no significant improvement in flatfoot indicators of the contralateral foot during brace wear, there was a significant improvement or a trend to improve after brace wear. There was no significant correlation between the contralateral flatfoot and original joint laxity.Significant flatfoot deformity was observed in the contralateral foot during brace wear. The contralateral flatfoot persisted during brace wear and improved to within normal reference ranges after brace wear. Our findings suggest that the FAB may influence the development of the contralateral foot, leading to the flatfoot.

Exacerbation of primary intestinal lymphangiectasia during late pregnancy and recovery after delivery: A case report and literature review.

Primary intestinal lymphangiectasia (PIL) is a rare disease characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen. Main clinical features include intermittent diarrhea, hypoproteinemia. Scattered case reports suggested that PIL is compatible to pregnancy, but with increased complications.

Prenatal ultrasonic diagnosis of absent pulmonary valve syndrome: A case report.

Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS associated with TOF diagnosed via fetal echocardiography and discuss their specific ultrasonographic characteristics.

Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.

This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM, clinically defined per diagnostic criteria of the European Neuromuscular Centre. In case 1, a post-mortem analysis of available brain and muscle tissues is also described. Histopathological features (rimmed vacuoles) consistent with clinically defined IBM were detected in both presented cases. Postmortem testing in case 1 revealed the presence of an FMR1 premutation allele of 60 CGG repeats in both brain and skeletal muscle samples. Case 2 was a premutation carrier with 71 CGG repeats who had a son with FXS. Given that FXTAS is associated with immune-mediated disorders among premutation carriers, it is likely that the pathogeneses of IBM and FXTAS are linked. This is, to our knowledge, the first report of these two conditions presenting together, which expands our understanding of clinical symptoms and unusual presentations in patients with FXTAS. Following detection of a premutation allele of the FMR1 gene, FXTAS patients with severe muscle pain should be assessed for IBM.

Lithium Use in Pregnancy and the Risk of Cardiac Malformations.

Porphyria.