Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations:A case report

The cartilage hair hypoplasia and anauxetic dysplasia (CHH-AD) spectrum encompasses a group of rare skeletal disorders, with anauxetic dysplasia (ANXD) at the most severe end of the spectrum. Biallelic variants in RMRP, POP1, and NEPRO (C3orf17) have previously been associated with the three currently recognized ANXD types. Generally, all types are characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, and extensive skeletal abnormalities visible on radiological evaluation. Thus far, only five patients with type 3 anauxetic dysplasia (ANXD3) have been reported. Here, we describe one additional ANXD3 patient. We provide a detailed physical and radiological evaluation of this patient, in whom we identified a homozygous variant, c.280C &gt; T, p.(Arg94Cys), in NEPRO. Our patient presented with clinically relevant features not previously described in ANXD3: atlantoaxial subluxation, extensive dental anomalies, and a sagittal suture craniosynostosis resulting in scaphocephaly. We provide an overview of the literature on ANXD3 and discuss our patient's characteristics in the context of previously described patients. This study expands the phenotypic spectrum of ANXD, particularly ANXD3. Greater awareness of the possibility of atlantoaxial subluxation, dental anomalies, and craniosynostosis may lead to more timely diagnosis and treatment.</p

A comparison of the early motor repertoire of very preterm infants and term infants

OBJECTIVE: To obtain reference data on the early motor repertoire of very preterm infants compared with healthy term infants at three months' post-term age. STUDY DESIGN: In this observational study, using Prechtl's method on the assessment of the early motor repertoire, we compared the quality of fidgety movements and the concurrent motor optimality score - revised of infants with a gestational age <30 weeks and/or a birth weight <1000 g with healthy infants with a gestational age of 37-42 weeks. RESULTS: One hundred eighty very preterm and 180 healthy term infants participated. The median motor optimality scores - revised of very preterm infants were significantly lower in comparison to those of term infants, with scores of 24 (25th-75th percentiles: 23-26) and 26 (25th-75th percentiles: 26-28), respectively. Fidgety movements were aberrant (abnormal or absent) more often in very preterm infants than in term infants. The odds ratio was 4.59 (95% CI, 1.51-13.92). Compared with term infants, very preterm infants had poorer scores on the subscales age-adequate movement repertoire, observed postural patterns, and movement character with odds ratios ≥2.97. We found no differences regarding observed movement patterns. CONCLUSION: This study provides reference data on the early motor repertoire of very preterm and healthy term infants. It demonstrates that the early motor repertoire of very preterm infants is poorer than that of term infants, a finding consistent with existing knowledge that prematurity increases the risk of poor neurodevelopment

Primrose syndrome: Characterization of the phenotype in 42 patients

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age. We present 13 hitherto unpublished individuals and summarize the clinical and molecular findings in all 42 patients. Several signs and symptoms of PS develop during childhood, but the cardinal features, such as calcification of the external ears, cystic bone lesions, muscle wasting, and contractures typically develop between 10 and 16 years of age. Biochemically, anemia and increased alpha-fetoprotein levels are often present. Two adult males with PS developed a testicular tumor. Although PS should be regarded as a progressive entity, there are no indications that cognition becomes more impaired with age. No obvious genotype-phenotype correlation is present. A subgroup of patients with ZBTB20 variants may be associated with mild, nonspecific ID. Metabolic investigations suggest a disturbed mitochondrial fatty acid oxidation. We suggest a regular surveillance in all adult males with PS until it is clear whether or not there is a truly elevated risk of testicular cancer.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.published version, accepted version (12 month embargo) submitted versio

The Quality of General Movements after Treatment with Low-Dose Dexamethasone in Preterm Infants at Risk of Bronchopulmonary Dysplasia

Background: High-dose dexamethasone (DXM) treatment of preterms at risk of bronchopulmonary dysplasia leads to a deterioration in quality of their general movements (GMs). It is unknown whether low-dose DXM affects GM quality similarly. Objectives: To assess the effect of low-dose DXM treatment on the quality of GMs and fidgety GMs (FMs). Methods: A prospective study of preterms admitted to our NICU between 2010 and 2012, and treated with DXM (starting dose 0.25 mg/kg/day). We assessed GM/FM quality and calculated their motor optimality score (MOS) before, during, and after treatment up to 3 months postterm. Neurological follow-up was performed between 12 and 36 months. We related risk factors with infants' GM trajectories and MOSs. At 3 months we compared the MOSs of low-dose DXM infants and a historical cohort of infants treated with high-dose DXM or hydrocortisone. Results: 17 infants were included. GM/FM quality improved in 9 out of 13 initially abnormal infants (p = 0.004). Shorter periods of mechanical ventilation and higher birth weights were associated with better GM trajectories (p = 0.032 and p = 0.042, respectively). Infants starting treatment later had higher MOSs on day 7 (p = 0.047). Low-dose DXM infants had higher MOSs than high-dose DXM infants (beta = -0.535; 95% CI -0.594 to -0.132; p = 0.003). Out of 17 infants, 2 died, 14 developed normally, and 1 developed with mild neurodevelopmental impairments. Infants whose GMs/FMs remained normal or improved had better outcomes than infants whose GMs/FMs remained abnormal (p = 0.019). Conclusions: Out of the 17 infants treated with low-dose DXM, 2 died. Of the surviving infants, neurological functioning improved with the majority having normal neurodevelopment at the age of 12-36 months. (C) 2014 S. Karger AG, Base

Cost-effectiveness of planned birth in a birth centre compared with alternative planned places of birth: results of the Dutch Birth Centre study

Development and application of statistical models for medical scientific researc

Placental pathology and neurological morbidity in preterm infants during the first two weeks after birth

Background: The placenta plays a crucial role during pregnancy and dysfunction causes long-term neurological problems. Identifying placenta-related risks for neurological problems shortly after birth may provide clues for early interventions aiming to improve neurological outcome. Objective: To determine the association between placental pathology and neurological morbidity in preterm infants during the first two weeks after birth. Study design: Placentas of 52 singleton, preterm infants (GA: 25-31 weeks, BW: 560-2250 grammes) were examined for histopathology. The infants' neurological condition shortly after birth was determined by assessing the quality of their general movements (GMs): normal, abnormal, or hypokinetic, on days 5, 8, and 15. A motor optimality score (MOS) was also assigned. Results: Examination of the placentas revealed maternal vascular underperfusion (n = 29), ascending intrauterine infection (AIUI) (n = 19), villitis of unknown aetiology (n = 6), chronic deciduitis (n = 11), foetal thrombotic vasculopathy (FTV) (n = 9), and elevated nucleated red blood cells (NRBCs) as a marker for foetal hypoxia (n = 7). None of the placental lesions were significantly associated with the quality of GMs or MOS. Conclusions: This study indicated that placental lesions were not associated with infants' neurological condition as measured by the quality of their general movements during the first two weeks after birth. (C) 2013 Elsevier Ireland Ltd. All rights reserved

Geometrisk jordebok över Ödeshögs socken 1639-41 : Rumsliga föreställningar speglade i en karta / Den ovissa morgondagen : En undersökning av arbetarfamiljers utsatthet i Norrköping under perioden 1900-1910

Geometrisk jordebok över Ödeshögs socken 1639-41 : Rumsliga föreställningar speglade i en karta Av Charlotta Ekman. Kartor är ett källmaterial som inte har använts så ofta av historiker. Den främsta anledningen till. det är förmodligen att det handlar om bilder där man har en viss osäkerhet inför användandet. Informationen är kodad på ett sätt som skiljer sig från det traditionella källmaterialets skrivna text och siffror. Därmed krävs också en annan metod för att tillgängliggöra den kunskap som finns att hämta. Nu är kartorna visserligen inte helt outnyttjade. Inom bebyggelsehistoria är speciellt de utförliga skifteskartoma regelmässigt använda och för kulturmiljövården är de ett viktigt hjälpmedel för att lokalisera objekt. I dessa sammanhang är det dock bara kartornas rent geografiska fakta man utnyttjar. För namnforskning har också det språkliga innehållet använts. Jag menar att det finns möjligheter att komma åt mer. Speciellt de äldre kartorna, som går att spåra tillbaka till den enskilda personen bakom deras utförande, ger möjligheter till en djupare tolkning där man kan komma åt tankestrukturer. Det är inte bara till den geografiska omgivningens faktiska förändringar kartorna kan bli en källa utan också till de inställningar till den geografiska omgivningen som människor haft och de tolkningar de har gjort av den. Värderingar och attityder speglas omedvetet i allt material som produceras. I den här uppsatsen ska jag använda mig av en samling 1600-talskartor för att undersöka vilka spår man kan se av den tidens mentala föreställningar om den rumsliga omgivningen. Ett exempel på hur dessa kartor ser ut visas på en bild längst bak i texten.Den ovissa morgondagen : En undersökning av arbetarfamiljers utsatthet i Norrköping under perioden1900-1910 Av Sofia Seifarth. Nu började för mig förnedringens tid, fast det förstod jag inte då. Det var den ovissa brödkakans tid. Det hade det alltid varit, men jag hade aldrig hunnit få så skarp känning av det, alltid fanns det något åt mig. Det blev lössens och de smutsiga förklädenas tid och skolk från skolan. Det började blåsa tattarvind över dagarna.[---] Och ingen mat hade vi den flyttdagen. Inga grannar bjöd på något. Alla var ute på var sitt släp för brödet. Ingen hade heller något att bjuda, ty det var en torsdag. Ingen i Norrköpings förstäder hade något att bjuda på dagen före avlöningen.[---] Mor hade ett paket liggande i fönsterkarmen. Jag visste vad det var i det. Två lakan. Vi skulle genom hela stan, men lakanen skulle till pantbanken inne i stan och någon mat blev det ej förrän de var där. (Moa Martinsson) Bland annat så här skildrar Moa Martinsson sin barndoms verklighet i Norrköping runt sekelskiftet. Beskrivningarna vittnar om ett liv i utsatthet och tidvis stor misär. Hur var det egentligen att vara arbetare i Norrköping vid tiden för storindustrins genombrott? Jörn Svensson har i Norrköpings historia beskrivit situationen i staden på detta sätt: Den bräckliga ekonomiska grund varpå flertalet Norrköpingsfamiljers försörjning vilade, bragtes lätt att svikta. De lågavlönade kategorierna var ovanligt talrika och de depressiva tendenserna var starkare än inom den svenska industrin som helhet. Men hur såg familjesituationen ut för de utsatta familjerna? Hur klarade de försörjningen? Var man mer utsatt i vissa åldrar? Vad hände när man var gammal och inte kunde arbeta längre? Denna uppsats behandlar arbetares utsatthet i Norrköping 1900-1910, utifrån samtida familjebeskrivningar hämtade ur Brödraföreningen i Norrköpings protokoll