Results 91 to 100 of about 3,730,566 (185)

SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
When the SRY gene is present in a 46,XX fetus, some degree of testicular development is expected. Our laboratory detected an SRY+ derivative X chromosome resulting from a translocation between Xq28 and Yp11.2 in an apparently typical female neonate. This case demonstrates how the SRY gene may be present in a 46,XX biological female without differences ...
Casey J. Brewer, Alyxis G. Coyan, Nicki Smith, Brittany Jones, Teresa A. Smolarek, Jie Liu   +5 more
wiley   +1 more source

Germ Cell Tumors in 46, XY Gonadal Dysgenesis

Indian Journal of Endocrinology and Metabolism
Introduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital.
Raiz A Misgar, Sajad U Islam Mir, Mohmad H Mir, Mir I. Bashir, Arshad I. Wani, Shariq R. Masoodi   +5 more
doaj   +1 more source

Society for endocrinology guideline for understanding, diagnosing and treating female hypogonadism

Clinical Endocrinology, Volume 101, Issue 5, Page 409-442, November 2024.
Abstract Female hypogonadism (FH) is a relatively common endocrine disorder in women of premenopausal age, but there are significant uncertainties and wide variation in its management. Most current guidelines are monospecialty and only address premature ovarian insufficiency (POI); some allude to management in very brief and general terms, and most ...
Channa N. Jayasena, Kerri Devine, Katie Barber, Alexander N. Comninos, Gerard S. Conway, Anna Crown, Melanie C. Davies, Ann Ewart, Leighton J. Seal, Arlene Smyth, Helen E. Turner, Lisa Webber, Richard A. Anderson, Richard Quinton   +13 more
wiley   +1 more source

Successful management of patient with treatment resistant schizophrenia and Swyer–James–macleod syndrome with clozapine

Indian Journal of Psychological Medicine, 2016
Swyer–James–Macleod syndrome (SJMS) is a rare disorder characterized by infective bronchiolitis. It typically presents with a history of recurrent chest infections during childhood.
Arpit Parmar, Rajeev Ranjan, Rajesh Sagar   +2 more
doaj   +1 more source

Respiratory‐swallow patterning and oropharyngeal swallowing impairment in patients undergoing evaluation for lung transplant

Neurogastroenterology &Motility, Volume 36, Issue 11, November 2024.
Swallowing impairment and altered respiratory phase patterning were demonstrated in patients with end‐stage lung disease undergoing lung transplant evaluation. Findings implicate the need for instrumental evaluation of swallowing. Further investigation is needed to better understand how respiratory‐swallow coordination and swallowing safety may be ...
Kahla Graham, Erin L. Reedy, Jungwha Julia Lee, Elizabeth Spencer Norton, Ambalavanan Arunachalam, Rade Tomic, Bonnie Martin‐Harris   +6 more
wiley   +1 more source

Increased lung field permeability in young patients

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message When the chest radiograph of a young patient shows lung hyperlucency, it is important to obtain a detailed clinical history of any previous episodes of childhood infection. Previous chest radiographs should be reviewed to determine whether the condition is congenital or acquired, and thus assist in a diagnosis of SJMS.
Ayaka Tanaka, Masamitsu Hamakawa, Tadashi Ishida   +2 more
wiley   +1 more source

A Case of Swyer - James Syndrome

, 1996
Swyer-James syndrome consists of an abnormal radiolucency of one lung or lobe, secondary to obliterative bronchiolitis with distal air trapping. In 1953, Swyer and James first described the syndrome as unilateral pulmonary emphysema in a six-year-old ...
손명현, 정재준, 김명준, 김규언   +3 more
core  

Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature

JCRPE
Swyer syndrome is a rare congenital condition that serves as a risk factor for developing germ cell tumors. The condition belongs to the group of 46, XY disorders of sexual development, is characterized by complete gonadal dysgenesis (CGD) and is mostly ...
Maamoun Adra, Hayato Nakanishi, Eleni Papachristodoulou, Evangelia Karaoli, Petroula Gerasimou, Antri Miltiadous, Katerina Nicolaou, Loizos Loizou, Nicos Skordis   +8 more
doaj   +1 more source

Incidental gonadal tumors at the time of gonadectomy in women with Swyer syndrome: a case series [PDF]

, 2015
Background: Swyer syndrome (46XY complete gonadal dysgenesis) is an uncommonly encountered condition in our population. Gonadectomy is recommended upon diagnosis due to a significant risk of malignant transformation of the dysgenetic gonads, typically to
Kimble, Rebecca M., Hanlon, Amie J. M.
core   +1 more source

Two Cases of Swyer-James Syndrome

Journal of UOEH, 2002
Two cases of Swyer-James syndrome are reported. Case 1; A 25-year-old man was admitted to our hospital to be treated for Mycobacterium avium infection. Chest X-ray film revealed hyperlucency in the right lower lung. High-resolution CT showed a low attenuation area and bronchiectasis in the right lower lobe.
Yukiko, Okabe, Chiharu, Yoshii, Yuko, Matsumoto, Satoshi, Ominami, Toshiro, Ito, Kazuhiro, Yatera, Tatsunori, Kawajiri, Masamitsu, Kido   +7 more
openaire   +3 more sources