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

Notes from the Field: Zika Virus-Associated Neonatal Birth Defects Surveillance - Texas, January 2016-July 2017.

On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies.

Chronic lymphocytic leukemia: 2017 update on diagnosis, risk stratification, and treatment.

Chronic lymphocytic leukemia (CLL) is the commonest leukemia in western countries. The disease typically occurs in elderly patients and has a highly variable clinical course. Leukemic transformation is initiated by specific genomic alterations that impair apoptosis of clonal B cells.

The association between caudal anesthesia and increased risk of postoperative surgical complications in boys undergoing hypospadias repair: Comment on data sparsity.

Letter to the editor regarding "The association between caudal anesthesia and increased risk of postoperative surgical complications in boys undergoing hypospadias repair".

Arteriovenous Malformations of the Brain.

Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.

Leber's hereditary optic neuropathy (LHON; OMIM 535000) is one of the most common maternally inherited mitochondrial disorders. Three mitochondrial DNA point mutations-m.3460G>A (MT-ND1), m.11778G>A (MT-ND4), and m.14484T>C (MT-ND6)-account for the majority of reported LHON cases. Only approximately 50% of males and approximately 10% of females carrying these mutations develop optic neuropathy and blindness. Additional factors, such as mtDNA/nuclear genetic background and environmental modifiers, are likely to contribute toward the observed incomplete penetrance and gender bias. We aimed to investigate whether mtDNA haplogroup influences LHON clinical expression in Indian patients harboring the m.11778G>A mutation.

Xanthomas in Familial Hypercholesterolemia.

Arteriovenous Malformations of the Brain.

Arteriovenous Malformations of the Brain.

Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations.

We compare the choroidal vascular area between Bietti crystalline dystrophy (BCD) patients with CYP4V2 mutations, retinitis pigmentosa (RP) patients with EYS mutations, and normal controls, and investigate the correlation between choroidal vascular area and associated parameters.

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene.

Brachycephalic dogs - time for action.

Hepatic hematoma in neonates: about a case.

Hepatic hematoma is a condition of unrecognized origin which can become extremely serious and whose diagnosis is often made during perinatal autopsy. It is often characterised by nonspecific clinical manifestations and a long delay before biological presentation.The diagnosis is essentially based on ultrasound and treatment is often conservative.We here report a case of a full-term newborn with asymptomatic hepatic haematoma due to obstetrical trauma.

Association between Williams syndrome and adrenal insufficiency.

Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an assessment of degree of failure to thrive. Its association with primary adrenal insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and molecular analysis. Its management consists of the implementation of treatment for adrenal insufficiency associated with a clinico-biological monitoring.

Intraoperative management of esophageal atresia: small steps that cannot be ignored in Madagascar.

The management of esophageal atresia is still limited due to the precariousness of technical equipments in Madagascar. Our case study aims to highlight possible therapeutic options and to describe the progresses to be made so as to optimize treatment of this congenital pathology. We collected the medical records of all patients hospitalized for esophageal atresia in the Department of Surgical Reanimation at the University Hospital-JRA Antananarivo. The first patients admitted who survived for a period of 42 months (between January 2011 and June 2014) were included in the study. Among the 17 patients admitted with esophageal atresia, three full-term newborns with type III esophageal atresia, successively admitted in Surgical Reanimation, were the first patients in Madagascar to survive after surgery. Only one patient had associated malformations. These three babies were extubated early in the operating room; they underwent oxygen therapy until normal spontaneous breathing. New-born babies underwent post-operatory physical therapy allowing to improve their respiratory status. Overall mortality rate from this pathology was 76.5% in 42 months. Despite these initial success, progresses still remain to be done in the treatment of this congenital anomaly, from diagnosis up to postoperative period. The improvement of technical equipments, especially ventilation and nutritional support equipments would allow more meaningful results, like in the countries where progresses has been made in the field of reanimation.

Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC).

Reply: Alveolar Bone Grafting and Cleft Lip and Palate: A Review.

Alveolar Bone Grafting and Cleft Lip and Palate: A Review.

Discussion: Head Orthosis Therapy in Positional Plagiocephaly: Influence of Age and Severity of Asymmetry on Effect and Duration of Therapy.

The use of a dorsal double-wing flap without skin grafts for congenital syndactyly treatment: A STROBE compliant study.

Numerous techniques have been developed that use various flaps to treat syndactyly. Skin grafts have often been used to cover remaining surgical defects. The long-term aim of surgery is to find new methods of separating the digits without using skin grafts. This paper describes a new surgical technique for the correction of simple, incomplete, and complete syndactyly. The technique consists of a dorsal double-wing flap to cover the newly created web space and zigzag incisions in the fingers, thus avoiding the use of skin grafts in this space. Overall, 35 web spaces in 24 patients were treated using this technique. Patient follow-up ranged from 6 months to nearly 5 years. There were no complications such as hematoma, infection or flap necrosis, and no fingers needed skin grafts after separation. The average operative time for each web space was approximately 45 minutes. Ninety-seven percent of patients treated with the dorsal double-wing flap procedure achieved good function, and superior cosmetic results following a single surgery. The technique is simple, rapid, safe, and easily performed and does not require the use of skin grafts.

Antenatal diagnosis and prognostic factors of aneurysmal malformation of the vein of Galen: A case report and literature review.

Vein of Galen aneurysmal malformation (VGAM) is a rare complex malformation of the cerebral vascular system consisting of arteriovenous shunts between the vein of Galen and the cerebral arteries.

Clinical significance of delta neutrophil index in the differential diagnosis between septic arthritis and acute gout attack within 24 hours after hospitalization.

The most important differential diagnoses of acute monoarticular arthritis are septic arthritis and acute gout attack. Identifying infection is crucial in preventing the devastating outcome of septic arthritis. The delta neutrophil index (DNI) is a value that corresponds to the fraction of circulating immature granulocytes. As DNI reflects the burden of infection, we evaluated this index as a differentiating marker between septic arthritis and acute gout attack.The medical records of 149 patients with septic arthritis and 194 patients with acute gout attack were reviewed. A specific cell analyzer, ADVIA 2120, was used to measure DNI. Clinical and laboratory markers associated with predicting septic arthritis were assessed by using logistic regression.Patients with septic arthritis showed higher levels of DNI than those with acute gout attack (3.3 vs 0.6%, P < .001). Similar results were observed in patients without monosodium urate (MSU) crystal confirmation or those with normouricemia (3.3 vs 0.5 and 3.1 vs 0.7%, respectively; P < .001 for both). A DNI level of 1.9% was determined as the cutoff value for predicting septic arthritis. In the multivariate analysis, DNI was the most powerful independent value for predicting septic arthritis (odds ratio 14.003).This study showed the possibility of using DNI as a differentiating marker between septic arthritis and acute gout attack at the crucial early phase. DNI showed its relevance regardless of confirmation of MSU crystal deposition or serum level of uric acid.

Traumatic cataract in patient with anterior megalophthalmos: Case report.

Megalophthalmos anterior is a rare, bilateral, nonprogressive, hereditary, congenital disorder, characterized by the enlargement of all anterior segment structures of the eye, with megalocornea, iris atrophy, and zonular abnormalities commonly found. Usually almost asymptomatic in young patients, with most complaints concerning blurred vision due to the common corneal astigmatism, it might in time lead to several complications including premature cataract formation and pigmentary glaucoma.

Ventilation in Extremely Preterm Infants and Respiratory Function at 8 Years.

Assisted ventilation for extremely preterm infants (<28 weeks of gestation) has become less invasive, but it is unclear whether such developments in care are associated with improvements in short-term or long-term lung function. We compared changes over time in the use of assisted ventilation and oxygen therapy during the newborn period and in lung function at 8 years of age in children whose birth was extremely premature.

Committee Opinion No. 712: Intrapartum Management of Intraamniotic Infection.

Intraamniotic infection, also known as chorioamnionitis, is an infection with resultant inflammation of any combination of the amniotic fluid, placenta, fetus, fetal membranes, or decidua. Intraamniotic infection is a common condition noted among preterm and term parturients. However, most cases of intraamniotic infection detected and managed by obstetrician-gynecologists or other obstetric care providers will be noted among term patients in labor. Intraamniotic infection can be associated with acute neonatal morbidity, including neonatal pneumonia, meningitis, sepsis, and death. Maternal morbidity from intraamniotic infection also can be significant, and may include dysfunctional labor requiring increased intervention, postpartum uterine atony with hemorrhage, endometritis, peritonitis, sepsis, adult respiratory distress syndrome and, rarely, death. Recognition of intrapartum intraamniotic infection and implementation of treatment recommendations are essential steps that effectively can minimize morbidity and mortality for women and newborns. Timely maternal management together with notification of the neonatal health care providers will facilitate appropriate evaluation and empiric antibiotic treatment when indicated. Intraamniotic infection alone is rarely, if ever, an indication for cesarean delivery.

Committee Opinion No. 712 Summary: Intrapartum Management of Intraamniotic Infection.

Intraamniotic infection, also known as chorioamnionitis, is an infection with resultant inflammation of any combination of the amniotic fluid, placenta, fetus, fetal membranes, or decidua. Intraamniotic infection is a common condition noted among preterm and term parturients. However, most cases of intraamniotic infection detected and managed by obstetrician-gynecologists or other obstetric care providers will be noted among term patients in labor. Intraamniotic infection can be associated with acute neonatal morbidity, including neonatal pneumonia, meningitis, sepsis, and death. Maternal morbidity from intraamniotic infection also can be significant, and may include dysfunctional labor requiring increased intervention, postpartum uterine atony with hemorrhage, endometritis, peritonitis, sepsis, adult respiratory distress syndrome and, rarely, death. Recognition of intrapartum intraamniotic infection and implementation of treatment recommendations are essential steps that effectively can minimize morbidity and mortality for women and newborns. Timely maternal management together with notification of the neonatal health care providers will facilitate appropriate evaluation and empiric antibiotic treatment when indicated. Intraamniotic infection alone is rarely, if ever, an indication for cesarean delivery.

WHOLE-BODY VIBRATION EXERCISE IS WELL TOLERATED IN PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY: A SYSTEMATIC REVIEW.

Duchenne muscular dystrophy (DMD) is caused by a defective gene located on the X-chromosome, responsible for the production of the dystrophin protein. Complications in the musculoskeletal system have been previously described in DMD patients. Whole body vibration exercise (WBVE) is a treatment that improves musculoskeletal function in movement disorders. The aim of this study was to review the effects of WBVE on functional mobility, bone and muscle in DMD patients.

Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.

Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway.

Conditionally Immortal Slc4a11-/- Mouse Corneal Endothelial Cell Line Recapitulates Disrupted Glutaminolysis Seen in Slc4a11-/- Mouse Model.

To establish conditionally immortal mouse corneal endothelial cell lines with genetically matched Slc4a11+/+ and Slc4a11-/- mice as a model for investigating pathology and therapies for SLC4A11 associated congenital hereditary endothelial dystrophy (CHED) and Fuchs' endothelial corneal dystrophy.

Reliability and Repeatability of Cone Density Measurements in Patients With Stargardt Disease and RPGR-Associated Retinopathy.

To assess reliability and repeatability of cone density measurements by using confocal and (nonconfocal) split-detector adaptive optics scanning light ophthalmoscopy (AOSLO) imaging. It will be determined whether cone density values are significantly different between modalities in Stargardt disease (STGD) and retinitis pigmentosa GTPase regulator (RPGR)-associated retinopathy.