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

Umbilical Hernia Repair: Overview of Approaches and Review of Literature.

Umbilical hernias are ubiquitous, and surgery is indicated in symptomatic patients. Umbilical hernia defects can range from small (<1 cm) to very large/complex hernias, and treatment options should be tailored to the clinical situation. Open, laparoscopic, and robotic options exist for repair, with each having its advantages and disadvantages. In general, mesh should be used for repair, because it has been shown to decrease recurrence rates, even in small hernias. Although outcomes are generally favorable after umbilical hernia repairs, some patients have chronic complaints that are mostly related to recurrences.

A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.

Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT, TERC, and DKC1 have been identified in individuals with familial pulmonary fibrosis. Mutations in TINF2 gene have been reported to be associated with bone marrow failure in most cases. However, the relationship between TINF2 mutation and pulmonary fibrosis is not yet clear.

Arterial spin labeling MR imaging aids to identify cortical venous drainage of dural arteriovenous fistulas.

Cortical venous drainage (CVD) increases the probability of intracranial hemorrhage and mortality rate of dural arteriovenous fistulas (DAVF). Although digital subtraction angiography (DSA) is the most accurate method to determine CVD in DAVFs, this modality has limitations due to its invasive nature and radiation issues. The purpose of this study was to evaluate the diagnostic utility of arterial spin-labeling perfusion-weighted images (ASL-PWI) to identify CVD in patients with DAVF.The Institutional Review Board of our hospital approved this retrospective study. ASL-PWI features of 22 patients with DAVF were retrospectively reviewed for the presence of bright signal intensity in cortical veins and brain parenchyma. DAVF with bright signal intensity in cortical veins and/or brain parenchyma was regarded as having CVD. Using DSA as a reference standard, sensitivity, specificity, positive predictive value, and negative predictive value of ASL-PWI for detecting CVD were calculated.Based on DSA features, 11 (11/22, 50%) patients were classified as having "aggressive" pattern with CVD. Eleven (11/22, 50%) patients also showed bright signal intensity in cortical veins (9/22, 41%) and/or brain parenchyma (4/22, 18%) on ASL-PWI. The 11 patients who had "Aggressive" pattern on DSA were the same 11 patients who were classified as having "aggressive" pattern on ASL-PWI. ASL-PWI showed perfect diagnostic performance for identifying CVD with sensitivity, specificity, positive predictive value, and negative predictive value of 100% for all.Thus, ASL-PWI could be used as a noninvasive mean to predict the presence of CVD in patients with DAVFs. It has the potential as a screening tool to evaluate DAVF prior to invasive DSA.

Maternal Sirolimus Therapy for Fetal Cardiac Rhabdomyomas.

Xanthoma Striatum Palmare.

In Vivo Endothelial Cell Density Decline in the Early Postoperative Phase After Descemet Membrane Endothelial Keratoplasty.

To evaluate endothelial cell density (ECD) in the first 6 months after Descemet membrane endothelial keratoplasty (DMEK) by eliminating method error as a confounding variable.

Comparing osteogenic effects between concentrated growth factors and the acellular dermal matrix.

Concentrated growth factor (CGF) is an autogenuous product that contains highly concentrated number of platelets and can be derived from venous blood by selective centrifugation. It has been speculated that local growth factors in human platelets (insulinlike growth factor, IGF; transforming growth factor, TGF-b; platelet derived growth factor, PDGF) would enhance healing of grafts and also counteract resorption. The osteogensis effect of CGF and acellular dermal matrix (ADM) for alveolar cleft defects was evaluated in this study. Twenty alveolar cleft patients were divided randomly into two groups. One group underwent guided bone regeneration (GBR) using acellular dermal matrix film combined with alveolar bone grafting using iliac crest bone grafts (GBR group), while the other group underwent alveolar bone grafting combined with CGF (CGF group). Cone beam computed tomography (CBCT) images were obtained at 1 week and 6 months following the procedure. Using Mimics 17.0 software, the bone resorption rate and bone density improvement rate were calculated and compared between the two groups. Although not significant between ADM and CGF in bone resorption rate, the bone density improvement in cases with CGF(61.62 ± 4.728%) was much better than in cases with ADM (27.05 ± 5.607%) (p = 0.0002). Thus, CGF could be recommended to patients with alveolar cleft as a better choice.

Diastematomyelia is a rare spinal dysraphism in which the spinal cord and its content are split. Two types of diastematomyelia have been described. We report the case of a 12 year old male patient presenting with reduced lower limb muscle strength without associated sphincteric disorders. The patient underwent axial, sagittal and coronal T1 and T2-weighted MRI sequence of the spine. MRI showed a bifid appearance of the bone marrow of thoracolumbar vertebrae in two hemi-cords without bone spur separating the two hemi-marrows, compatible with type 1 diastematomyelia. It was associated with low tethered spinal cord with syringomyelic cavity involving the left hemi-marrow and with biloculated fibrotic lesion at the level of the right hemi-marrow compatible with a neuroenteric cyst. MRI also showed incomplete closure of the posterior arch of D12 vertebra which communicated with a subcutaneous pocket in relation to a dermal sinus. Diastematomyelia is a rare abnormality of the spine which can be associated with other malformations. Therapeutic strategy essentially depends on the progression of the clinical signs (neurological) and of associated malformations.

Prognosis of referred patients with an obstetric emergency at the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.

The impact of referred patients with an obstetric emergency due to complications is not yet known. This study aimed to identify the complications associated with obstetric emergency in referred patients in Yaoundé.

Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome: A literature review on this rare progeroid pathology.

Mulvihill-Smith syndrome is a rare sporadic condition that was first recognized in 1975. A total of 11 cases have been described in the literature. The aim of this study was to describe the orofacial signs and dental anomalies, their frequency, and the relationship between Mulvihill-Smith syndrome and other progeroid syndromes via a review of the literature.

Endoscopic retrograde cholangiopancreatography in adult patients with biliary atresia: PROCESS-compliant case series.

Biliary atresia is a progressive inflammatory disease of the bile duct that eventually results in biliary cirrhosis. It is a rare neonatal disease that mandates treatment within the first 2 years of life in order for the infant to survive. Patients usually undergo palliative Kasai portoenterostomy. Even when Kasai portoenterostomy has been performed in a timely manner, progression is still inevitable. In fact, the majority of patients require curative liver transplantation at a later stage before reaching adulthood.

The comorbidities and risk factors in children with congenital airway anomalies: A nationwide population-based study in Taiwan.

The comorbidities and risk factors associated with congenital airway anomalies (CAAs) in children are undecided. This study aimed to investigate the comorbidities commonly associated with CAA and to explore the prognosis and risk factors in CAA children.This nationwide, population-based cohort study was conducted between 2000 and 2011 with children aged 0 to 5 years assigned to either a CAA group (6341 patients) that diagnosed with CAA or an age- and gender-matched control group (25,159 patients) without CAA, using the Taiwan National Health Insurance Research Database (NHIRD). Descriptive, logistic regression, Kaplan-Meier, and Cox regression analyses were used for the investigation.Cleft lip/palate (adjusted odds ratio [aOR], 7.88; 95% confidence interval [CI], 6.49-9.59), chromosome (aOR, 6.85; 95% CI, 5.03-9.34), and congenital neurologic (aOR, 5.52; 95% CI, 4.45-6.87) anomalies were the comorbidities most highly associated with CAA. Of the 31,500 eligible study patients, 636 (399 in the CAA group and 237 in the control group) died during the follow-up period (6.3% vs 0.9%, P < .001). The mortality risk after adjusting for age, gender, and comorbidities elevated significantly among CAA patients (adjusted hazard ratio [aHR], 4.59; 95% CI, 3.85-5.48). The need for tracheostomy (aHR, 2.98; 95% CI, 2.15-4.15), comorbidity with congenital heart disease (CHD) (aHR, 2.52; 95% CI, 2.05-3.10), and chromosome anomaly (aHR, 2.34; 95% CI, 1.70-3.23) were the independent risk factors most greatly related to CAA mortality.This study demonstrated that CAA was most highly associated with the comorbidities as cleft lip/palate, chromosome, and congenital neurologic anomalies. The CAA children had a significantly elevated mortality risk; the need for tracheostomy, CHD, and chromosome anomaly were the most related risk factors of mortality for CAA. Further studies are warranted to clarify the involved mechanisms.

Effect of Glyburide vs Subcutaneous Insulin on Perinatal Complications Among Women With Gestational Diabetes: A Randomized Clinical Trial.

Randomized trials have not focused on neonatal complications of glyburide for women with gestational diabetes.

Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome.

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare fatal premature aging disease. There is no approved treatment.

Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome.

Orthodontic treatment of a patient with maxillary lateral incisors with dens invaginatus: 6-year follow-up.

Dens invaginatus is an anomaly of dental development in which calcified tissues, such as enamel and dentin, are invaginated into the pulp cavity. This morphologic alteration is more frequent in maxillary permanent lateral incisors and makes them more susceptible to carious lesions and pulp alterations.

Three-dimensional computed tomography analysis of mandibular morphology in patients with facial asymmetry and mandibular retrognathism.

The purpose of this study was to analyze the morphologic features of skeletal units in the mandibles of patients with facial asymmetry and mandibular retrognathism using cone-beam computed tomography.

A newborn patient with both annular pancreas and Meckel's diverticulum: A case report of an unusual association.

Annular pancreas (AP) is recognized as a cause of duodenal obstruction in children, while children with Meckel's diverticulum (MD) are usually asymptomatic. Here we present a rare case with both AP and MD, which was identified by abdominal exploration during diamond-shaped duodenoduodenostomy.

Radiological features of azygos and hemiazygos continuation of inferior vena cava: A case report.

Azygos and hemiazygos continuation of the inferior vena cava (IVC) is uncommon. It is rare especially when it is not associated with congenital heart disease or deep venous thrombosis.

Application of thoracic endovascular aortic repair (TEVAR) in treating dwarfism with Stanford B aortic dissection: A case report.

To apply thoracic endovascular aortic repair (TEVAR) to treat dwarfism complicated with Stanford B aortic dissection.

Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report.

Metachondromatosis (MC) is a very rare genetic disease, which is infrequently reported worldwide, which leads to osteochondroma and enchondromatosis. The disease has been shown to be associated with loss of function of the tumor suppressor gene "protein tyrosine phosphatase, non-receptor type 11" (PTPN11).

Successful treatment of left main shock syndrome induced by thrombosed coronary artery dissection: A case report.

Left main shock syndrome (LMSS) induced by thrombosed coronary artery dissection is very rare and has a fatal prognosis. Optimal treatment strategy includes early reperfusion and hemodynamic support to prevent cardiogenic shock. However, it involves the extension of technical difficulties under different conditions.

STARD-rapid screening for the 6 most common G6PD gene mutations in the Chinese population using the amplification refractory mutation system combined with melting curve analysis.

Dot-blot hybridization and high-resolution melting curve methods are used to detect G6PD gene mutations; however, the performance and throughput limitations of these methods hinder their use for screening large populations. For simple screening, we developed a novel approach called "Amplification Refractory Mutation System combined with Melting Curve Analysis (ARMS-MC)," which enables rapid and batch-based detection of the 6 most common G6PD mutations.In this method, we established 4 PCR reaction systems that can be used to detect the 6 most common G6PD mutations (c.95A>G, c.392G>T, c.871G>A, c.1024C>T, c.1376G>T, and c.1388G>A) in the Chinese population.The ARMS-MC method was evaluated with 174 cases of clinical G6PD-deficient samples, and the results were verified by direct sequencing at G6PD gene exons. The results showed that 170 samples had ≥1 of the 6 mutations, which accounted for 97.70% of all mutations. These results were consistent with the results of direct sequencing with 100% accuracy and specificity. Sequencing validation revealed other mutations in the 4 samples in which no mutation was detected by the ARMS-MC method.ARMS-MC provides a rapid, simple, inexpensive, and accurate screening method for detecting the most common G6PD mutations in Chinese people.

Gender-related efficacy of pulmonary surfactant in infants with respiratory distress syndrome: A STROBE compliant study.

Whether gender influences the efficacy of exogenous pulmonary surfactant (PS) for replacement therapy in newborns with respiratory distress syndrome (RDS) has not been well studied yet.Retrospective cohort study design. Data on PS therapy including blood gas, oxygenation function parameters, and therapy results were collected and analyzed from 370 infants diagnosed with RDS in 20 hospitals of the Northwest China Neonatal Collaboration from January 2011 to December 2011.Female infants were more sensitive to PS treatment than males. In multivariate analysis, when adjusted for other variables, an increased initial dose of surfactant significantly reduced mortality risk (OR = 0.98, 95%CI [0.96, 0.99], P = .002). An interaction between gender and initial dose of PS was observed. In male infants, an increased initial dose of surfactant was correlated with reduced mortality risk (OR = 0.97, 95%CI [0.96, 0.99], P = 0.005), while in female infants, we failed to found a relationship between the initial dose of surfactant and the risk of mortality (OR = 0.99, 95%CI [0.96, 1.02], P = .543). Moreover, the effect of surfactant replacement therapy was better for female infants than male infants at initial PS doses <130 mg/kg.Gender influences the efficacy of PS treatment. An increased initial dose of PS should be used in RDS therapy for male infants.

Intracranial hemorrhage associated with medulla oblongata dysplasia in a premature infant: A case report.

Medulla oblongata dysplasia is an extremely rare form of neurodevelopmental immaturity in premature infants. Intracranial hemorrhage in premature infants may be closely related to neurodevelopmental immaturity.

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

Congenital myasthenic syndrome (CMSs) are a group of rare genetic disorders of the neurological junction, which can result in structural or functional weakness. Here, we characterized a case of CMS in order to clarify the diagnosis and expand the understanding of it. The molecular diagnosis had implications for choice of treatment and genetic counseling.

Microsurgery for patients diagnosed with neurofibromatosis type 2 complicated by vestibular schwannomas: Clinical experience and strategy for treatments.

Most patients diagnosed with neurofibromatosis type 2 (NF2) have bilateral vestibular schwannomas (VS). Through reviewing surgical method and clinical outcomes, we tried to find out a strategy for treatments in NF2 patients with VS.We retrospectively reviewed patients diagnosed pathological NF2 and have had microsurgery (MS) for VS in the PLA Army General Hospital. Seventeen patients were included from January 2000 to December 2016. Fifteen patients had progressive hearing impairment, and 7 ears were totally deaf. Computed tomography and magnetic resonance imaging were used for preoperative and postoperative evaluation. House-Brackmann (H-B) classification was used to evaluate facial function, and the hearing outcome was classified according to American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) hearing classification system. The outcomes included functional hearing, facial function, and complications.In the 17 patients, 9 were men, and the mean age was 27.2 years old. The mean duration of disease was 38.4 months. Twenty-six VS were excised. Nine patients with bilateral VS and unilateral surgery had repeated surgery for the contralateral tumor after 3 to 12 months. The hearing preservation rate was 41.6%. In the 26 excisions for VS, 24 had intact facial nerve. In the other 2 tumor excision, damaged facial nerves had head-to-head adhesion using biological fibrin glue. The rate of facial nerve function preservation was 60%. No mortality or major complication was reported. The follow-up time ranged from 11 to 78 months with a mean value of 39 months.MS is an effective treatment for NF2 patients with VS. The operation for bilateral VS should be staged according to tumor size and bilateral hearing function. However, methods on how to preserve functional hearing and facial function remain the issue. Further randomized controlled studies are needed to find out a better treatment for NF2 patients with VS according to the overall condition.

The inter- and intraobserver reliability for the radiological parameters of flatfoot, before and after surgery.

Aims Various radiological parameters are used to evaluate a flatfoot deformity and their measurements may differ. The aims of this study were to answer the following questions: 1) Which of the 11 parameters have the best inter- and intraobserver reliability in a standardized radiological setting? 2) Are pre- and postoperative assessments equally reliable? 3) What are the identifiable sources of variation? Patients and Methods Measurements of the 11 parameters were recorded on anteroposterior and lateral weight-bearing radiographs of 38 feet before and after surgery for flatfoot, by three observers with different experience in foot surgery (A, ten years; B, three years; C, third-year orthopaedic resident). The inter- and intraobserver reliability was calculated. Results Preoperative interobserver reliability was high for four, moderate for five, and low for two parameters. Postoperative interobserver reliability was high for four, moderate for five, and low for two parameters. Intraobserver reliability was excellent for all parameters preoperatively as recorded by observer A (PB) and B (MP), and for eight parameters as recorded by observer C (SR). Intraobserver reliability was excellent for ten parameters postoperatively as recorded by observer A and B, and for eight parameters as recorded by observer C. Conclusion The following parameters can be recommended. For preoperative and postoperative evaluation of flatfoot: anteroposterior, talonavicular coverage angle; lateral, talometatarsal I angle, calcaneal pitch angle, and cuneiform-medial height (high interobserver reliability); and anteroposterior, talometatarsal II angle; lateral, talocalcaneal angle,tibiocalcaneal angle (moderate interobserver reliability). For more experienced observers, we also recommend the anteroposterior talometatarsal I angle (moderate reliability). The inter- and intraobserver reliability for most parameters were similar pre- and postoperatively. The experience of the observer and the definition and ability to measure the parameters themselves were sources of variation. Cite this article: Bone Joint J 2018;100-B:596-602.

The positive predictive value of asymmetrical skin creases in the diagnosis of pathological developmental dysplasia of the hip.

Aims The aim of this study was to identify the association between asymmetrical skin creases of the thigh, buttock or inguinal region and pathological developmental dysplasia of the hip (DDH). Patients and Methods Between 1 January 1996 and 31 December 2016, all patients referred to our unit from primary or secondary care with risk factors for DDH were assessed in a "one stop" clinic. All had clinical and sonographic assessment by the senior author (RWP) with the results being recorded prospectively. The inclusion criteria for this study were babies and children referred with asymmetrical skin creases. Those with a neurological cause of DDH were excluded. The positive predictive value (PPV) for pathological DDH was calculated. Results A total of 105 patients met the inclusion criteria. There were 71 girls and 34 boys. Only two were found to have pathological DDH. Both also had unilateral limited abduction of the hip in flexion and a positive Galeazzi sign with apparent leg-length discrepancy. Thus, if the specialist examination of a patient with asymmetrical skin creases was normal, the PPV for DDH was 0%. Conclusion Isolated asymmetrical skin creases are an unreliable clinical sign in the diagnosis of pathological DDH. Greater emphasis should be placed on the presence of additional clinical signs to guide radiological screening in babies and children. Cite this article: Bone Joint J 2018;100-B:675-9.

PFO Closure for Cryptogenic Stroke.