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

Gene Therapy in a Patient with Sickle Cell Disease.

Anti-Interleukin-31 Receptor A Antibody for Atopic Dermatitis.

Gene Therapy in a Patient with Sickle Cell Disease.

Gene Therapy in a Patient with Sickle Cell Disease.

Anti-Interleukin-31 Receptor A Antibody for Atopic Dermatitis.

Anti-Interleukin-31 Receptor A Antibody for Atopic Dermatitis.

Crizanlizumab in Sickle Cell Disease.

Crizanlizumab in Sickle Cell Disease.

Prevalence of Burkholderia species, including members of Burkholderia cepacia complex, among UK cystic and non-cystic fibrosis patients.

We aimed to establish the prevalence of different Burkholderia species among UK cystic fibrosis (CF) and non-CF patients over a 2 year period.

Validity of the Montreal Cognitive Assessment Screener in Adolescents and Young Adults With and Without Congenital Heart Disease.

Cognitive deficits are common, long-term sequelae in children and adolescents with congenital heart disease (CHD) who have undergone surgical palliation. However, there is a lack of a validated brief cognitive screening tool appropriate for the outpatient setting for adolescents with CHD. One candidate instrument is the Montreal Cognitive Assessment (MoCA) questionnaire.

Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015.

To describe the prevalence and characteristics of microcephaly in a geographically defined Australian population.

Case 13-2017. A 41-Year-Old Man with Hearing Loss, Seizures, Weakness, and Cognitive Decline.

SerpinC1/Antithrombin III in kidney-related diseases.

The gene SerpinC1 encodes a serine protease inhibitor named antithrombin III (ATIII). This protease demonstrates both anticoagulant and anti-inflammatory action. ATIII is the most important coagulation factor inhibitor, and even minor changes in ATIII can significantly alter the risk of thromboembolism. ATIII can also suppress inflammation via a coagulation-dependent or -independent effect. Moreover, apart from ATIII deficiency, ATIII and its gene SerpinC1 may also be related to many diseases (e.g. hypertension, kidney diseases). The present review summarizes how ATIII affects the progress of kidney disease and its mechanism. Further studies are required to investigate how ATIII affects renal function and the treatment.

Endovascular treatment evolution for pure intraorbital arteriovenous fistula: Three case reports and literature review.

Background and importance Intraorbital arteriovenous fistulas (IOAVFs) are rare and cause eye redness, exophthalmos, blurry vision and bruit. Whereas in the past they were treated conservatively, surgically or transarterially, recent developments in transvenous embolization have improved their treatment. In this paper the authors report three cases of IOAVFs treated endovascularly and review the evolution of treatment options. Methods Three cases of purely IOAVF enrolled in our center were reported and a PubMed literature search was performed using "pure intraorbital arteriovenous fistula" and "arteriovenous fistula of the optic nerve sheath." A total of 21 papers were reviewed in full, focusing primarily on the treatment and outcomes. Results A total of 26 patients were obtained, including our three patients and 23 patients reported in the literature. In nine patients treated conservatively, four spontaneous occlusions, one visual deterioration and four cases with unknown outcome were reported. In another 18 patients, 29 therapies (including five surgical treatment, 11 transarterial embolizations and 13 transvenous embolizations) were attempted and resulted in 12 cures, five visual deteriorations and one without reported outcome. More recently, transvenous embolization has become the mainstay of IOAVF treatment. Of the 21 patients assessed between 2000 and 2013, a transvenous approach was attempted in 13 patients; nine patients were cured without any adverse events. Conclusion Development and improvement of transvenous techniques are found to be safe and effective for patients with IOAVF.

Sickle Cell Disease.

Inflammation-induced fetal growth restriction in rats is associated with increased placental HIF-1α accumulation.

Hypoxia-inducible factor 1-alpha (HIF-1α) is the oxygen-sensitive subunit of the transcription factor HIF-1, and its expression is increased in placentas from pregnancies complicated by pre-eclampsia (PE). Fetal growth restriction (FGR) and PE often share a common pathophysiology; however, it is unknown whether increased placental HIF-1α occurs in FGR. We previously demonstrated that aberrant maternal inflammation in rats resulted in altered utero-placental perfusion and FGR, both of which were prevented by administration of the nitric oxide mimetic glyceryl trinitrate (GTN). Our aim here was to determine whether abnormal maternal inflammation causing FGR is linked to placental HIF-1α accumulation and whether GTN administration could prevent increases in placental HIF-1α.

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions.

Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide interruption motifs which is followed by a pure tract of tandem ATCCT repeats of unknown length at its 3'-end. Intriguingly, expansions that carry these interruption motifs correlate with an epileptic seizure phenotype and are unstable despite the theory that interruptions are expected to stabilize expanded repeats. To examine the apparent contradiction of unstable, interruption-positive SCA10 expansion alleles and to determine whether the instability originates outside of the interrupted region, we sequenced approximately 1 kb of the 5'-end of SCA10 expansions using the ATCCT-PCR product in individuals across multiple generations from four SCA10 families. We found that the greatest instability within this region occurred in paternal transmissions of the allele in stretches of pure ATTCT motifs while the intervening interrupted sequences were stable. Overall, the ATCCT interruption changes by only one to three repeat units and therefore cannot account for the instability across the length of the disease allele. We conclude that the AT-rich interruptions locally stabilize the SCA10 expansion at the 5'-end but do not completely abolish instability across the entire span of the expansion. In addition, analysis of the interruption alleles across these families support a parsimonious single origin of the mutation with a shared distant ancestor.

The lack of BTK does not impair monocytes and polymorphonuclear cells functions in X-linked agammaglobulinemia under treatment with intravenous immunoglobulin replacement.

The lack of BTK in X-linked agammaglobulinemia (XLA) patients does not affect monocytes and polymorphonuclear cells (PMN) phenotype and functions. In this study, we show that XLA patients had an increased frequency of the intermediate monocytes subset and that BTK-deficient monocytes and PMN had a normal expression of receptors involved in the activation and cellular responses. We demonstrate that BTK is not required for migration, phagocytosis and the production of reactive oxygen species (ROS) following engagement of FC gamma receptors (FcγR). XLA monocytes and PMN showed an efficient calcium (Ca2+)-independent activation of oxidative burst, suggesting that oxidative burst is less dependent by Ca2+ mobilization. The phagocytosis was functional and it remained unaltered also after Ca2+ chelation, confirming the independence of phagocytosis on Ca2+ mobilization. Intravenous immunoglobulin (IVIg) infusion exerted an anti-inflammatory effect by reducing the frequency of pro-inflammatory monocytes. In monocytes, the IVIg reduce the oxidative burst and phagocytosis even if these functions remained efficient.

Systematic review and meta-analysis shows a specific micronutrient profile in people with Down Syndrome: Lower blood calcium, selenium and zinc, higher red blood cell copper and zinc, and higher salivary calcium and sodium.

Different metabolic profiles as well as comorbidities are common in people with Down Syndrome (DS). Therefore it is relevant to know whether micronutrient levels in people with DS are also different. This systematic review was designed to review the literature on micronutrient levels in people with DS compared to age and sex-matched controls without DS. We identified sixty nine studies from January 1967 to April 2016 through main electronic medical databases PubMed, Scopus, and Web of knowledge. We carried out meta-analysis of the data on four essential trace elements (Cu, Fe, Se, and Zn), six minerals (Ca, Cl, K, Mg, Na, and P), and five vitamins (vitamin A, B9, B12, D, and E). People with DS showed lower blood levels of Ca (standard mean difference (SMD) = -0.63; 95% confidence interval (CI): -1.16 to -0.09), Se (SMD = -0.99; 95% CI: -1.55 to -0.43), and Zn (SMD = -1.30; 95% CI: -1.75 to -0.84), while red cell levels of Zn (SMD = 1.88; 95% CI: 0.48 to 3.28) and Cu (SMD = 2.77; 95% CI: 1.96 to 3.57) were higher. They had also higher salivary levels of Ca (SMD = 0.85; 95% CI: 0.38 to 1.33) and Na (SMD = 1.04; 95% CI: 0.39 to 1.69). Our findings that micronutrient levels are different in people with DS raise the question whether these differences are related to the different metabolic profiles, the common comorbidities or merely reflect DS.

An unusual location of gouty panniculitis: A case report.

Gouty panniculitis, characterised by the deposition of monosodium urate crystals in subcutaneous tissue, is a rare clinical manifestation of gout.

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.

Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability.

Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome.

22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS. Anthropometric and laboratory measurements were obtained from the charts of 48 individuals (males=28, 8.0±6.8 visits/participant) followed at a national 22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3±4.9 years and age at last evaluation 11.2±7.2 years. Median height-SDS was negative at all ages. Height-SDS at last visit was correlated to the midparental height-SDS (r=0.52 P=0.002). Yet, participants did not reach their target height, with a difference of 1.06±1.07 SD (P <0.0001). Height-SDS at last visit of participants with a heart defect was lower compared to participants with a normal heart (-1.5±1.4 vs. -0.6±0.8, P=0.036), with lower height-SDS in the subgroup of participants with severe heart defects (-2.1±1.6, P=0.009). Mean IGF1-SDS was low (-0.99±1.68) but was not correlated with height-SDS. Thirteen patients (27%) had hypoparathyroidism: 10 presented during infancy and 3 during adolescence. Five patients (10.4%, female=4) had thyroid abnormalities. In conclusions, individuals with 22q11.2 DS have a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low-normal range. Hypoparathyroidism is common and may present during the neonatal period as well as later in life. Thyroid abnormalities may present during childhood, adolescence, or adulthood.

First-Trimester Crown-Rump Length and Embryonic Volume of Fetuses with Structural Congenital Abnormalities Measured in Virtual Reality: An Observational Study.

Background. With the introduction of three-dimensional (3D) ultrasound it has become possible to measure volumes. The relative increase in embryonic volume (EV) is much larger than that of the crown-rump length (CRL) over the same time period. We examined whether EV is a better parameter to determine growth restriction in fetuses with structural congenital abnormalities. Study Design, Subjects, and Outcome Measures. CRL and EV were measured using a Virtual Reality (VR) system in prospectively collected 3D ultrasound volumes of 56 fetuses diagnosed with structural congenital abnormalities in the first trimester of pregnancy (gestational age 7(+5) to 14(+5) weeks). Measured CRL and EV were converted to z-scores and to percentages of the expected mean using previously published reference curves of euploid fetuses. The one-sample t-test was performed to test significance. Results. The EV was smaller than expected for GA in fetuses with structural congenital abnormalities (-35%  p < 0.001, z-score -1.44  p < 0.001), whereas CRL was not (-6.43%  p = 0.118, z-score -0.43  p = 0.605). Conclusions. CRL is a less reliable parameter to determine growth restriction in fetuses with structural congenital abnormalities as compared with EV. By measuring EV, growth restriction in first-trimester fetuses with structural congenital abnormalities becomes more evident and enables an earlier detection of these cases.

Use of Evicel Fibrin Sealant in Optic Disc Pit-Associated Macular Detachment.

Optic disc pit is a rare congenital anomaly of the optic nerve. Retinal detachment is a common complication with poor outcomes. Many surgical alternatives have been described for the treatment of this condition, producing variable results. Herein, the authors describe four cases of optic disc pit-associated macular detachment managed with pars plana vitrectomy, fluid-air exchange, drainage of subretinal fluid through the optic disc pit, temporal peripapillary laser, and application of Evicel fibrin sealant (human) (Ethicon, Bridgewater, NJ) over the optic disc head. Case 1 showed stable visual acuity and improvement of subretinal fluid. Cases 2 and 3 showed visual acuity and subretinal fluid improvements. At the 1-week follow-up visit, Case 4 showed almost total subretinal fluid absorption. The sealant invariably disappeared between 1 and 2 weeks and was tolerated by all patients. This case series suggests that Evicel fibrin sealant may be considered as an adjunctive option in the surgical treatment of optic disc pit-associated maculopathy. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:358-363.].

Autologous Free Internal Limiting Membrane Flap for Optic Nerve Head Pit With Maculopathy.

Optic disc pits (ODPs) are associated with serous macular detachment (SMD), which causes visual loss in 25% to 75% patients with ODPs. There are various modalities of noninvasive and invasive treatment options; however, the best method of treatment is to seal the optic disc to prevent further egress of fluid into the subretinal space. The authors report a technique that involves sealing of ODPs with autologous free flap of the internal limiting membrane (ILM). After trans pars plana vitrectomy, the ILM was peeled and plugged into the ODP. This procedure gave good anatomical and functional success. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:350-353.].

A Nine-Year Follow-Up of Macular Complications in Retinitis Pigmentosa and Diabetes Mellitus.

The authors report a 9-year follow-up of macular complications in a 66-year-old woman affected with retinitis pigmentosa (RP) and type 2 diabetes mellitus. Rarely, clinical signs of diabetic retinopathy are presented in a patient with retinal dystrophy. This patient developed a bilateral diabetic macular edema (DME), which made its management complex due to the multiple pathogenic processes involved. Despite the chronicity of the DME, visual acuity remained stable without therapy. To the authors' knowledge, this is the first report of DME in RP with such a long follow-up. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:340-344.].

Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis.

Biliary Atresia (BA) is rare and genetically complex, and the pathogenesis is elusive. The disease course is variable and can represent heterogeneity, which hinders effective disease management. Deciphering the BA phenotypic variance is a priority in clinics and can be achieved by the integrative analysis of genotype and phenotype. We aim to explore the BA phenotypic features and to delineate the source of its variance.

Deficiency of superoxide dismutase promotes cerebral vascular hypertrophy and vascular dysfunction in hyperhomocysteinemia.

There is an emerging consensus that hyperhomocysteinemia is an independent risk factor for cerebral vascular disease and that homocysteine-lowering therapy protects from ischemic stroke. However, the mechanisms by which hyperhomocysteinemia produces abnormalities of cerebral vascular structure and function remain largely undefined. Our objective in this study was to define the mechanistic role of superoxide in hyperhomocysteinemia-induced cerebral vascular dysfunction and hypertrophy. Unlike previous studies, our experimental design included a genetic approach to alter superoxide levels by using superoxide dismutase 1 (SOD1)-deficient mice fed a high methionine/low folate diet to produce hyperhomocysteinemia. In wild-type mice, the hyperhomocysteinemic diet caused elevated superoxide levels and impaired responses to endothelium-dependent vasodilators in cerebral arterioles, and SOD1 deficiency compounded the severity of these effects. The cross-sectional area of the pial arteriolar wall was markedly increased in mice with SOD1 deficiency, and the hyperhomocysteinemic diet sensitized SOD1-deficient mice to this hypertrophic effect. Analysis of individual components of the vascular wall demonstrated a significant increase in the content of smooth muscle and elastin. We conclude that superoxide is a key driver of both cerebral vascular hypertrophy and vasomotor dysfunction in this model of dietary hyperhomocysteinemia. These findings provide insight into the mechanisms by which hyperhomocysteinemia promotes cerebral vascular disease and ischemic stroke.

Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1.

2-Hydroxypropyl-beta-cyclodextrin (HPβCD) has gained recent attention as a potential therapeutic intervention in the treatment of the rare autosomal-recessive, neurodegenerative lysosomal storage disorder Niemann-Pick Disease Type C1 (NPC1). Notably, HPβCD formulations are not comprised of a single molecular species, but instead are complex mixtures of species with differing degrees of hydroxypropylation of the cyclodextrin ring. The degree of substitution is a critical aspect of the complex mixture as it influences binding to other molecules and thus could potentially modulate biological effects. VTS-270 (Kleptose HPB) and Trappsol® Cyclo™ are HPβCD products under investigation as novel treatments for NPC1. The purpose of the present work is to compare these two different products; analyses were based on ion distribution and abundance profiles using mass spectrometry methodology as a means for assessing key molecular distinctions between products. The method incorporated electrospray ionization and analysis with a linear low-field ion mobility quadrupole time-of-flight instrument. We observed that the number of hydroxypropyl groups (the degrees of substitution) are substantially different between the two products and greater in Trappsol Cyclo than in VTS-270. The principal ions of both samples are ammonium adducts. Isotope clusters for each of the major ions show doubly charged homodimers of the ammonium adducts. In addition, both products show doubly charged homodimers from adduction of both a proton and ammonium. Doubly charged heterodimers are also present, but are more intense in Trappsol Cyclo than in VTS-270. Based on the analytical differences observed between VTS-270 and Trappsol Cyclo with respect to the degree of substitution, the composition and fingerprint of the complex mixture, and the impurity profiles, these products cannot be considered to be the same; the potential biological and clinical implications of these differences are not presently known.

Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients.

Posterior polymorphous corneal dystrophy (PPCD) is characterized by abnormal proliferation of corneal endothelial cells. It was shown that TGF-β2 present in aqueous humor (AH) could help maintaining the corneal endothelium in a G1-phase-arrest state. We wanted to determine whether the levels of this protein are changed in AH of PPCD patients.