Results 51 to 60 of about 44,262 (279)

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes [PDF]

, 2017
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made ...
Bogaert, Delfien, Coppieters, Frauke, De Baere, Elfride, De Baets, Frans, De Bruyne, Marieke, De Schryver, Sarah, De Wilde, Hans, Dullaers, Melissa, Haerynck, Filomeen, Kuehn, Hye Sun, Lambrecht, Bart, Leroy, Bart, Niemela, Julie E, Rosenzweig, Sergio D   +13 more
core   +2 more sources

Total hip arthroplasty for developmental hip dysplasia [PDF]

International Orthopaedics, 2005
We reviewed 38 hip replacements in 33 female patients (mean age 55.3 years) with developmental hip dysplasia. One patient had died and the remaining 32 patients (36 hips) had a mean follow-up of 12.2 years (range 8-19 years). All hips were replaced using the Müller cemented implant, and in 32 hips bulk femoral head autograft was used.
Papachristou, G, Hatzigrigoris, P, Panousis, K, Plessas, S, Sourlas, J, Levidiotis, C, Chronopoulos, E   +6 more
openaire   +3 more sources

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Radiographic Prediction of the Results of Long-term Treatment with the Pavlik Harness for Developmental Dislocation of the Hip [PDF]

, 2009
In 1957, Pavlik introduced the Pavlik harness as a useful treatment for developmental dislocation of the hip (DDH), and subsequent studies have documented favorable outcomes among patients treated with this device.
Endo, Hirosuke, Minagawa, Hiroshi, Mitani, Shigeru, Ohmori, Takao, Ozaki, Toshifumi, Tetsunaga, Tomonori   +5 more
core   +1 more source

Total Hip Arthroplasty in Congenital Hip Dysplasia [PDF]

Orthopaedic Surgery, 2014
Nowadays, total hip arthroplasty (THA) is frequently performed for serious hip diseases such as osteonecrosis of the femoral head, osteoarthritis of the hip, developed dysplasia of the hip1 and failed internal fixation of femoral neck fractures. In our hospital, more than 1000 patients with hip diseases of average age 71 years (range, 45–82 years ...
Ru-jie, Zhuang, Guan-jun, Chen
openaire   +2 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Radiographic markers of hip dysplasia in young adults: predictive effect of factors in early life

BMC Musculoskeletal Disorders, 2023
Abstrac Background and objectives Acetabular dysplasia in young adults occurs, despite screening for developmental hip dysplasia (DDH) in the neonatal period.
Lene B. Laborie, Stein Atle Lie, Karen Rosendahl   +2 more
doaj   +1 more source

Use of Denosumab in Children With Osteoclast Bone Dysplasias: Report of Three Cases. [PDF]

, 2019
Denosumab has been used successfully to treat disease-associated osteoclast overactivity, including giant cell tumor of bone. Given its mechanism of action, denosumab is a potent potential treatment of other osteoclast bone dysplasias including central ...
Bernthal, Nicholas M, Bukata, Susan, Eilber, Fritz C, Federman, Noah C, Felsenfeld, Alan L, Nelson, Scott D, Singh, Arun, Upfill-Brown, Alexander, Wesseling-Perry, Katherine   +8 more
core   +2 more sources

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Hip Ultrasonography in the Diagnosis of Developmental Dysplasia of the Hip: Bakırköy Experience

Haseki Tıp Bülteni, 2014
Aim: The purpose of the study was to determine the prevalence, incidence, and etiology as well as the risk factors for developmental dysplasia of the hip in newborns in whom we performed ultrasonography for screening using Graff’s method in our clinic ...
Altuğ Duramaz, Gökhan Peker, Levent Arslan, Mustafa Gökhan Bilgili, Ersin Erçin, Cemal Kural   +5 more
doaj   +1 more source