Results 111 to 120 of about 302,141 (331)

Controversial questions of medical statistical registration of congenital infections

Журнал инфектологии, 2014
Medical aid improvement in the cases of congenital infections (CI) is one of the most important problems in modern obstetrics and perinatology. The true incidence of congenital infections is not known. One of the reasons for this situation is the lack of
I. G. Tekhova, M. G. Dariina, K. N. Movchan, N. M. Khrustaleva, Yu. V. Gorelik, K. I. Rusakevich   +5 more
doaj   +1 more source

Determinants of response to a parent questionnaire about development and behaviour in 3 year olds: European multicentre study of congenital toxoplasmosis. [PDF]

, 2005
Background: We aimed to determine how response to a parent-completed postal questionnaire measuring development, behaviour, impairment, and parental concerns and anxiety, varies in different European centres.
A Heiser, A Prusa, A Salt, AW Gottfried, B Oliver, CM Stott, D Schmidt, D Zelterman, DC Eisert, FL Goodenough, FP Glascoe, FP Glascoe, G Malm, H Klasen, H Smedje, HK Tan, JP Mackenbach, K Freeman, K Saudino, K Sonnander, KB Doig, KE Beery, L Dinnebeil, LM Pachter, N Ferret, Organisation for Economic Co-operation and Development (OECD)., P Edwards, PS Dale, R Gilbert, R Goodman, R Goodman, R Griffiths, RE Gilbert, RT Anderson, S Johnson, SA Petrill, TM Marteau, TV Perneger, W Buffolano, W Tin   +39 more
core   +2 more sources

A CASE OF CONGENITAL SYPHILIS COMPLICATED BY A MIXED INFECTION WITH THE STAPHYLOCOCCUS AND STREPTOCOCCUS PYOGENES. [PDF]

, 1897
H. Gideon Wells
openalex   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Congenital cutaneous fibropapillomatosis in a warmblood foal [PDF]

, 2016
In this report, clinical and histological findings of a rare case of a large congenital fibropapilloma on the forehead of a warmblood foal are reported. Surgical excision was curative and no recurrence was observed after nine months.
de Cock, Hilde, de Morée, Ron, Martens, Ann, Oosterlinck, Maarten, Picavet, Marie-Thérèse, Van de Water, Eline   +5 more
core   +1 more source

Classification of stillbirths is an ongoing dilemma [PDF]

, 2016
Aim: To compare different classification systems in a cohort of stillbirths undergoing a comprehensive workup; to establish whether a particular classification system is most suitable and useful in determining cause of death, purporting the lowest ...
Bonaccorsi, Gloria, Borghi, Chiara, Bufo, Pantaleo, Fineschi, Vittorio, Greco, Pantaleo, Nappi, Luigi, Riezzo, Irene, Scutiero, Gennaro, Trezza, Federica, Turillazzi, Emanuela   +9 more
core   +1 more source

" CASE OF CONGENITAL SYPHILIS ; INFECTION OF MOTHER BY CHILD. [PDF]

, 1894
J. Coutts
openalex   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Perturbation of B Cell Gene Expression Persists in HIV-Infected Children Despite Effective Antiretroviral Therapy and Predicts H1N1 Response

Frontiers in Immunology, 2017
Despite effective antiretroviral therapy (ART), HIV-infected individuals with apparently similar clinical and immunological characteristics can vary in responsiveness to vaccinations. However, molecular mechanisms responsible for such impairment, as well
Nicola Cotugno, Nicola Cotugno, Lesley De Armas, Suresh Pallikkuth, Stefano Rinaldi, Stefano Rinaldi, Biju Issac, Alberto Cagigi, Alberto Cagigi, Paolo Rossi, Paolo Rossi, Paolo Palma, Savita Pahwa   +12 more
doaj   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source