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Objectives To describe clinical characteristics, management and outcome of COVID-19 patients; and to evaluate risk factors for all-cause in-hospital mortality. Methods This retrospective study from a University tertiary care hospital in northern Italy, included hospitalized adult patients with a diagnosis of COVID-19 between February 25th, 2020 and March 25th, 2020. Results Overall, 317 patients were enrolled. Their median age 71 years and 67.2% were males (213/317). The most common underlying diseases were hypertension (149/317; 47.0%), cardiovascular disease (63/317, 19.9%) and diabetes (49/317; 15.5%). Common symptoms at the time of COVID-19 diagnosis included fever (285/317; 89.9%), shortness of breath (167/317; 52.7%) and dry cough (156/317,49.2%). An “atypical” presentation including at least one among mental confusion, diarrhea or nausea and vomiting was observed in 53/317 patients (16.7%). Hypokalemia occurred in 25.8% (78/302) and 18.5% (56/303) had acute kidney injury. During hospitalization, 111/317 patients (35.0%) received non-invasive respiratory support, 65/317 (20.5%) were admitted to the intensive care unit (ICU) and 60/317 (18.5%) required invasive mechanical ventilation. All cause in-hospital mortality, assessed in 275 patients, was 43.6% (120/275). On multivariable analysis, age (per-year increase odds ratio [OR]:1.07; 95% confidence interval [CI] 1.04-1.10, p

The health impact on populations residing in industrially contaminated sites (CSs) is recognized as a public health concern especially in relation to more vulnerable population subgroups. The aim of this study was to estimate the risk of congenital anomalies (CAs) in Italian CSs. Thirteen CSs covered by regional CA registries were investigated in an ecological study. The observed/expected ratios (O/E) with 90% confidence intervals (CI) for the total and specific subgroups of CAs were calculated using the regional areas as references. For the CSs with waste landfills, petrochemicals, and refineries, pooled estimates were calculated. The total number of observed cases of CAs was 7085 out of 288,184 births (prevalence 245.8 per 10,000). For some CSs, excesses for several CA subgroups were observed, in particular for genital and heart defects. The excess of genital CAs observed in Gela (O/E 2.36; 90% CI 1.73–3.15) is consistent with findings from other studies. For CSs including petrochemical and landfills, the pooled risk estimates were 1.10 (90% CI 1.01–1.19) and 1.07 (90% CI 1.02–1.13), respectively. The results are useful in identifying priority areas for analytical investigations and in supporting the promotion of policies for the primary prevention of CAs. The use of short-latency effect indicators is recommended for the health surveillance of the populations residing in CSs.

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ ear anomalies and at least one major characteristic anomaly, was 3.8 per 100 000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder.

BACKGROUND Surveillance of multiple congenital anomalies is considered to be more sensitive for the detection of new teratogens than surveillance of all or isolated congenital anomalies. Current literature proposes the manual review of all cases for classification into isolated or multiple congenital anomalies. METHODS Multiple anomalies were defined as two or more major congenital anomalies, excluding sequences and syndromes. A computer algorithm for classification of major congenital anomaly cases in the EUROCAT database according to International Classification of Diseases (ICD)v10 codes was programmed, further developed, and implemented for 1 year's data (2004) from 25 registries. The group of cases classified with potential multiple congenital anomalies were manually reviewed by three geneticists to reach a final agreement of classification as “multiple congenital anomaly” cases. RESULTS A total of 17,733 cases with major congenital anomalies were reported giving an overall prevalence of major congenital anomalies at 2.17%. The computer algorithm classified 10.5% of all cases as “potentially multiple congenital anomalies”. After manual review of these cases, 7% were agreed to have true multiple congenital anomalies. Furthermore, the algorithm classified 15% of all cases as having chromosomal anomalies, 2% as monogenic syndromes, and 76% as isolated congenital anomalies. The proportion of multiple anomalies varies by congenital anomaly subgroup with up to 35% of cases with bilateral renal agenesis. CONCLUSIONS The implementation of the EUROCAT computer algorithm is a feasible, efficient, and transparent way to improve classification of congenital anomalies for surveillance and research. Birth Defects Research (Part A), 2011. © 2011 Wiley-Liss, Inc.

Background: Lamotrigine (LTG) is increasingly used during pregnancy. A FDA warning was issued for an association of LTG exposure and increased risk of orofacial clefts (OCs), based on data from the North American Antiepileptic Drug Pregnancy Registry (Holmes, 2006; Holmes et al., 2008). The signal was examined in the European Surveillance of Congenital Anomalies (EUROCAT) antiepileptic-study database (Dolk, 2008). No significantly increased risk of OCs was found relative to other malformations, either for isolated orofacial clefts or for isolated cleft palate. There has been no independent confirmation of increased risk of OCs in relation to LTG from all studies in the literature combined (Dolk et al., 2012). Objectives: To investigate whether first trimester exposure to LTG monotherapy is specifically associated with an increased risk of OCs, using the EUROCAT antiepilepticstudy database including birth years up to 2010. Methods: A population-based case-control study with malformed controls was performed. The updated EUROCAT antiepileptic-study dataset included 226,806 live births, stillbirths, or terminations with malformations among 7.6 million births in 20 European countries from 1995 to 2010, more than twice the population of the original study. Cases were 10,523 nonsyndromic OC registrations, of whom 8,771 were isolated, and 3,789 cleft palate (CP) of whom 2,984 were isolated. Controls were 144,914 non-chromosomal, non-OC registrations. We compared first trimester LTG vs no antiepileptics (non- AED use), for mono and polytherapy. Results: There were 181 LTG exposed (109 mono- and 72 polytherapy) registrations. Thematernal age adjusted odds ratios (ORs) for LTG monotherapy vs non-AED use were 0.84 (95% CI 0.37-1.92) for OC relative to other malformations, 1.01 (95% CI 0.44-2.30) for isolated OC; 1.18 (95% CI 0.38-3.72) for CP, and 1.49 (95% CI 0.47-4.72) for isolated CP. Conclusions: This update does not change the conclusion of the original study: we found no evidence of an increased risk of isolated orofacial clefts relative to other malformations for LTG monotherapy exposure in the first trimester, nor any evidence of an increased risk for isolated cleft palate.

Uvod: Ellis-van Creveldov sindrom ili hondroektodermalna displazija rijedak je autosomno recesivni genetički sindrom, glavna obilježja kojeg su neproporcionalno smanjen rast sa skraćenim udovima, skraćena rebra, polidaktilija te srčane grješke od kojih je najčešća atrijski septalni defekt. Kod oboljelih prisutna je i ektodermna displazija koja zahvaća zube, kosu i nokte. Cilj ovog rada je odrediti prevalenciju, vrijeme dijagnoze, zastupljenost pojedinih anomalija te njihov utjecaj na stopu preživljenja kod oboljelih. Metode: Analizirani su podatci dobiveni iz 34 registra EUROCAT (European Surveillance of Congenital Anomlies) mreže registara prirođenih mana. Registrse služe istom metodologijom prikupljanja podataka kao i višestrukim izvorima njihove provjere. Analizirani su podatci o živorođenima, mrtvorođenima ≥20 tjedana gestacije te o medicinski indiciranim prekidima trudnoće. Rezultati: Podatci su prikupljeni u razdoblju od 1990.-2011. godine u populaciji od 15 960 658 porođaja. Zabilježen je 41 oboljeli od EVC-a. Prevalencija je iznosila 0, 52 na 100 000 porođaja i tijekom promatranog razdoblja nije se mijenjala. Omjer M:Ž iznosio je 1, 2:1. Najveći broj oboljelih dijagnosticiran je prenatalno 27/35 (77, 2%), u prosjeku s 17±3.4 gestacijskih tjedana. Manji broj oboljelih dijagnosticiran je pri porođaju 8/35 (22.8%). Anomalije udova bile su prisutne u 23/25 oboljelih (92%), srčane grješke u 18/25 (72%), anomalije rebara u 7/25 (28%). Polidaktilija je bila prisutna kod 23-je oboljelih (92%). Od srčanih grješaka najčešći su bili septalni defekti (11/25 ; 44%), dok su preostale grješke bile rjeđe zastupljene: zajednički atrij (2/25 ; 8%), koarktacija aorte (2/25 ; 8%), hipoplastično lijevo srce (2/25 ; 8%) i dvostruki izlaz desnog ventrikula (1/25 ; 4%). Medicinski inducirani prekid trudnoće učinjen je u 24/41 (58, 5%) oboljelih, živorođenih je bilo 15-ero (15/41 ; 36, 6%), dok je dvoje bilo mrtvorođeno (2/41 ; 4, 9%). Svi živorođeni su preživjeli prvi tjedan života. Zaključak: Ellis-van Creveldov sindrom je rijedak poremećaj prevalencije 1 na 189 082 porođaja koji se najčešće dijagno sticira u prvom tromjesečju trudnoće. Prekidi trudnoća uz medicinsku indikaciju i odumiranje ploda zbog teže srčane grješke značajno smanjuju prevalenciju živorođenih koja iznosi 0, 26 na 100 000 (1 na 389 284) porođaja.

Holt Oramov sindrom (HOS, OMIM 142900) rijedak je autosomno dominantan poremećaj koji obilježavaju koštane abnormalnosti gornjih udova i srčane grješke/smetnje provođenja. HOS ima visoku penetrantnost i veliku varijabilnost izraženosti kliničke slike. U oko 75% slučajeva uzrokovan je mutacijama u genu TBX5.Cilj ovog istaživanja bio je utvrditi epidemiologijska i klinička obilježja HOS-a dijagnosticiranog prenatalno ili u prvim godinama života upotrebom baze podataka mreže registara prirođenih mana EUROCAT (European Surveillance of Congenital Anomalies). Metode: Analizirani su podatci o bolesnicima prikupljeni u razdoblju od 1990.-2011. god. u 34 EUROCAT registra iz 16 zemalja, koji prate oko 30% porođaja godišnje u Europi. Svi su registri populacijski, služe se s više izvora podataka i bilježe živorođene, mrtvorođenja ≥ 20 tj. gestacije, kao i medicinski indicirane prekide trudnoća, služeći se standardiziranom metodologijom. defi nicijom i načinom kodiranja. Rezultati: U promatranom razdoblju registrirana su 73 slučaja HOS-a. Prosječna prevalencija iznosila je 0, 7 na 100 000, a postoje značajne regionalne razlike (raspon 0, 2 - 2, 4). Bilo je 62-je (84, 9%) živorođenih, od kojih dvije (3, 2%) novorođenačke smrti te 11(15, 1%) prekida trudnoće uz medicinsku indikaciju. Prenatalno je otkriveno 30, 8%, pri porođaju 55, 4%, tijekom prvog tjedna života 10, 7%, a tijekom prve godine 3, 1% bolesnika. Stopa prenatalne detekcije nije se značajno mijenjala tijekom promatranog razdoblja. Ultrazvučne abnormalnosti prenatalno se u prosjeku otkrivaju sa 18, 6±4, 6 tjedana gestacije. Roditelji su se odlučili na prekid trudnoće u 55% slučajeva, a prekid je obavljen s 21, 1±1, 8 tjedana. Od koštanih abnormalnosti najčešće su bile anomalije palčeva, ageneza/hipoplazija radijusa bila je prisutna u 49, 2%, anomalije ulne u 24, 6%, a anomalije nadlaktice u 42, 6%. Srčane grješke imalo je 77% bolesnika, većinom izolirane defekte septuma (41%). Uočen je visok udio složenih srčanih grješaka (23, 4%) koje su dijagnosticirane samo u izoliranim slučajevima. U familjarnim slučajevima 90% je imalo srčane grješke, uvijek septalne defekte. Zaključak: HOS je rijedak sindrom koji pokazuje regionalnu varijaciju u prevalenciji. Često se ne otkriva prenatalno, usprkos prisutnosti većih malformacija. U slučajevima kad su anomalije otkrivene prenatalno, roditelji u oko polovice slučajeva odlučuju nastaviti trudnoću, usprkos prisutnosti težih anomalija udova i srca. Premda gotovo četvrtina bolesnika ima teške srčane grješke, ukupno preživljavanje nakon prvog tjedna je vrlo dobro, što je važan podatak za genetičko savjetovanje zahvaćenih obitelji.

OBJECTIVE: The objective of this study is to evaluate genetic risks already present before pregnancy in a cohort of pregnant women referred for prenatal genetic counseling exclusively for advanced maternal age (AMA). METHOD: We retrospectively reviewed the records of 1353 women referred over 1 year (2010) for pre-test genetic counseling with the only indication of AMA at three Italian Clinical Genetic Services. RESULTS: Of the 1353 women fulfilling the inclusion criteria of the study, 87 (6.4%) had cumulatively 94 genetic risk factors not previously identified (one risk factor in 80 patients and two risk factors in seven). Twenty-six risk factors (27.7%) concerned heterogeneous or multifactorial conditions and 68 (72.3%) Mendelian or chromosomal disorders and consanguinity.In nine out of these 87 women, the estimated risk for the offspring of a genetic disease or a significant structural anomaly was >5%. Additional testing according to the identified risks was performed in 36 of these 87 women/families. CONCLUSIONS: The proportion of cases with additional risk factors is smaller than reported in previous studies, but it remains substantial and confirms the need for strategies to increase awareness of the public and health professionals responsible for the care of women in childbearing age.

Beckwith Wiedemannov sindrom - europska epidemiologijska studija.