Turner syndrome ‐specific and general population Z‐scores are equivalent for most adults with Turner syndrome
CONCLUSION: Although Von Willebrand disease is the most common hereditary bleeding disorder in females, other rare diseases could be suspected such as Hemophilia. X-linked Hemophilia should be kept in mind as a differential diagnosis in any female patient suffering from hemorrhage.PMID:34336195 | PMC:PMC8318996 | DOI:10.1016/j.amsu.2021.102561
CONCLUSIONS: On high resolution karyotype analysis, clinical phenotype of TS could be found associated with CNV defects in autosomes (specifically Chr. 14,) or X chromosome or both. The syndrome of chromosome 14 CNVs defects with and without X-chromosomal defects clinically mimics TS and shares a common genomic network deserves further investigations.PMID:34333639 | DOI:10.1210/clinem/dgab572
CONCLUSIONS: Our collective findings suggest that expression of PPARGC1A and lower mitochondrial number affect the metabolic phenotype in TS subjects.PMID:34332520 | DOI:10.1515/hmbci-2020-0076
CONCLUSIONS: This case shows that persistant dyspnoea after COVID 19 infection should lead to a search for a diaphragmatic cause which is not always the result of Reanimation Neuropathy but may also indicate a neuralgic amyotrophy. It is the fourth case of neuralgic amyotrophy following COVID-19. This brings the medical community to consider the risk of diaphragm paralysis apart from critical illness polyneuropathy. Respiratory muscle evaluation and diaphragmatic ultrasound should be considered in case of persistent dyspnoea.PMID:34325956 | PMC:PMC8233958 | DOI:10.1016/j.rmr.2021.06.004
CONCLUSION: Case studies of speech and language development may reveal a specific characteristic in the cases with Turner syndrome to delineate genetic factors from individual developmental variabilities.PMID:34309455 | DOI:10.1080/02699206.2021.1953610
An earlier starting age of estrogen-progestin therapy may help attain better bone mineral density in young adults with Turner syndrome.Clinical Endocrinology
J Biol Regul Homeost Agents. 2021 May-Jun;35(3 Suppl. 1):95-106. doi: 10.23812/21-3supp1-12.ABSTRACTCraniofacial features of 18 individuals with Turner Syndrome (TS) were compared with age and gender matched healthy individuals. Dental history, panoramic radiograph, dental casts and cephalometric measurements were assessed. The dental casts analysis showed a significantly higher PH/PW ratio in individuals with TS under GH therapy compared to healthy individuals (p=0.004; paired t-test). This data objectively supported the definition of a high-narrow palate. The ANB angle and the Wits index were similar in the two group, sh...
Hi everyone! I'm a peds resident leaning towards a career in intensive care, either a Pediatric Critical Care or Neonatology fellowship. I have academic interests in genetic/metabolic conditions and congenital heart disease (e.g. "Terrible Ts," Pompe disease, Williams syndrome, Turner syndrome). I've ruled out peds cardiology because I want to work in the inpatient setting exclusively, ruled out PEM because I only want to care for the sickest patients. However, given the limited time I've... Read more
Conclusion: This systematic review of the literature confirms that otological disease is definitely part of the widely variable phenotype in Turner patients. Strong evidence is lacking on the exact prevalence numbers, emphasizing the need for more prospective data gathering. Growing insights in its pathophysiology will help in the understanding and management of hearing problems in TS across lifespan.
Haemophilia A is an X-linked genetic condition which manifests itself mainly in male children in the first 2 years of life, during gross motor skill development. This disorder is rare in females. The clinical ...