1. Turner syndrome – Symptoms and causes
- Author: www.mayoclinic.org
- Date Submitted: 11/13/2021 08:49 AM
- Average star voting: (4.99/5 stars and 59021 reviews)
- Match with the search results: Feb 11, 2022 … Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially …
2. Parsonage-Turner Syndrome: Diagnosis and Treatment | HSS
- Author: www.hss.edu
- Date Submitted: 12/14/2020 04:14 PM
- Average star voting: (3.58/5 stars and 10090 reviews)
- Summary: Parsonage-Turner Syndrome (PTS) is a rare neuromuscular condition. Hospital for Special Surgery has a specialized interdisciplinary team that treats PTS.
- Match with the search results: Parsonage-Turner Syndrome (Neuralgic Amyotrophy) · Photo of a person’s shoulder showing muscle atrophy and scapular winging. · MR neurography image showing …
3. Clinical review – Turner syndrome
- Author: www.gponline.com
- Date Submitted: 08/17/2021 05:33 PM
- Average star voting: (3.96/5 stars and 13778 reviews)
- Summary: Clinical features of Turner syndrome, comorbidities, management and early referral
- Match with the search results: Jun 20, 2017 … Clinical features of Turner syndrome, comorbidities, management and … in patients with Turner syndrome (Photograph: Science Photo Library).
4. Severe haemophilia a in a preterm girl with turner syndrome – a case report from the prenatal period to early infancy (part I) – Italian Journal of Pediatrics
- Author: ijponline.biomedcentral.com
- Date Submitted: 05/29/2019 08:46 PM
- Average star voting: (3.54/5 stars and 41187 reviews)
- Summary: Bleedings are more frequent in the population of preterm children than among those born at term, much less in older children. The reasons for such bleedings in preterms include plasma factor deficiencies, immaturity of small vessels in the germinal matrix region, prenatal hypoxia or sepsis. They affect the brain tissue, the gastrointestinal tract and the respiratory system, or are manifested by prolonged bleedings from injection sites. Haemophilia is a rare cause of haemorrhages in the neonatal period, and in the female population it is even seen as an extremely rare disorder. Its aetiology in girls is diverse: inheriting defective genes from their parents, skewed X inactivation or a single X chromosome. The article presents a case of a preterm girl born in the 28th week of pregnancy, who was diagnosed with severe haemophilia A stemming from the absence of the X chromosome. The girl’s father is healthy, but her mother’s brother suffers from haemophilia. On the second day of the child’s life, a prolonged bleeding from the injection site was observed. A coagulation profile revealed prolonged APTT which pointed to haemophilia A diagnosis. Moreover, a marked clinical dysmorphy, female sex and a negative family history on the father’s side led the treating team to extend the diagnostic procedures to encompass karyotype evaluation. The girl was diagnosed with Turner syndrome. No bleeding to the central nervous system was observed during her hospital stay. Preterm children belong to the risk group of bleeding into the central nervous system or haemorrhages in the course of sepsis. Rare causes of such bleedings should also be borne in mind, including haemophilia. The initial symptoms of haemophilia in preterm children occur in the first days of their lives, which is connected with a number of invasive procedures required in that period. Genetic conditions may coexist with one another. Arriving at one diagnosis does not mean one should abandon further diagnostic procedures in cases where additional atypical symptoms are present which do not match the clinical image of a primary disease.
- Match with the search results: Sep 7, 2020 … The girl was diagnosed with Turner syndrome. … atypical symptoms are present which do not match the clinical image of a primary disease.
5. Development of a computer-aided tool for the pattern recognition of facial features in diagnosing Turner syndrome: comparison of diagnostic accuracy with clinical workers | Scientific Reports
- Author: www.nature.com
- Date Submitted: 08/17/2020 12:12 PM
- Average star voting: (3.76/5 stars and 14217 reviews)
- Summary: Technologies applied for the recognition of facial features in diagnosing certain disorders seem to be promising in reducing the medical burden and improve the efficiency. This pilot study aimed to develop a computer-assisted tool for the pattern recognition of facial features for diagnosing Turner syndrome (TS). Photographs of 54 patients with TS and 158 female controls were collected from July 2016 to May 2017. Finally, photographs of 32 patients with TS and 96 age-matched controls were included in the study that were further divided equally into training and testing groups. The process of automatic classification consisted of image preprocessing, facial feature extraction, feature reduction and fusion, automatic classification, and result presentation. A total of 27 physicians and 21 medical students completed a web-based test including the same photographs used in computer testing. After training, the automatic facial classification system for diagnosing TS achieved a 68.8% sensitivity and 87.5% specificity (and a 67.6% average sensitivity and 87.9% average specificity after resampling), which was significantly higher than the average sensitivity (57.4%, P < 0.001) and specificity (75.4%, P < 0.001) of 48 participants, respectively. The accuracy of this system was satisfactory and better than the diagnosis by clinicians. However, the system necessitates further improvement for achieving a high diagnostic accuracy in clinical practice.
- Match with the search results: Jun 18, 2018 … … a computer-assisted tool for the pattern recognition of facial features for diagnosing Turner syndrome (TS). Photographs of 54 patients …