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JOURNAL ARTICLE
Lisa B Shields, Vasudeva G Iyer, Yi Ping Zhang, Christopher B Shields
BACKGROUND: The inability to extend the fingers at the metacarpophalangeal and interphalangeal joints leads to finger drop. While wrist drop and foot drop are well recognized, the causes of finger drop are poorly understood. AIMS: This study describes the clinical, electrodiagnostic (EDX), and ultrasound (US) features in patients with finger drop. MATERIALS AND METHODS: This is a retrospective study of 87 patients presenting with finger drop and referred for EDX studies during the past 10 years...
April 2024: Curēus
#2
JOURNAL ARTICLE
Layla Almarzooqi, Esther Schmidt, Heinrich Schmidt, Ilja Dubinski
Turner's syndrome (TS) is a sex chromosome disorder caused by a partial loss, complete absence or structural abnormality of one X chromosome in females. Special ocular features are often found. Some of the abnormalities are only cosmetic, such as the abnormalities of the eyelashes. The present prospective study with 12 TS and 12 control patients demonstrates the higher number of eyelashes as well as the greater vertical distance between the roots of the eyelashes in patients with TS compared with the control group...
June 2024: Journal of Pediatric Genetics
#3
JOURNAL ARTICLE
Wei Su, Longwei Sun, Zhuoguang Li, Xia Liu, Longjiang Zhang, Xiu Zhao, Shumin Fan, Boning Li, Ying Xie, Weiwei Xiao, Zhe Su
BACKGROUND: Patients with Turner syndrome (TS) face an increased risk of developing aortic dilatation (AD), but diagnosing AD in children presents greater complexity compared to adults. This study aimed to investigate the application of various assessment indicators of AD in Chinese children and adolescents with TS. METHODS: This study included TS patients admitted to Shenzhen Children's Hospital from 2017 to 2022. Cardiovascular lesions were diagnosed by experienced radiologists...
May 8, 2024: BMC Pediatrics
#4
JOURNAL ARTICLE
Aneta M Gawlik-Starzyk, Małgorzata Więcek, Debbie Matthews, Berit Öhman Kriström, Janielle A E M van der Velden, Theo C J Sas, Malgorzata Wasniewska, Siska Verlinde, Caroline Brain, Arlene Smyth, Malcolm David Cairns Donaldson
INTRODUCTION: Natural oestrogen administration as oral or transdermal 17β-estradiol is recommended for pubertal induction in girls with hypogonadism. However, suitable low-dose formulations are not consistently available globally. This questionnaire study aimed to identify the current availability of estrogen and progesterone preparations worldwide. METHODS: Endorsed by the ESPE Turner Syndrome Working Group, the questionnaire targeted pediatric endocrinologists...
May 8, 2024: Hormone Research in Pædiatrics
#5
JOURNAL ARTICLE
Daisy G Y Thompson-Lake, Frederique J Liegeois, Ruth O Braden, Graeme D Jackson, Samantha J Turner, Lottie Morison, Michael Hildebrand, Ingrid E Scheffer, Angela T Morgan
BACKGROUND AND OBJECTIVES: Pathogenic variants in GRIN2A are associated with a spectrum of epilepsy-aphasia syndromes (EASs). Seizures as well as speech and language disorders occur frequently but vary widely in severity, both between individuals and across the life span. The link between this phenotypic spectrum and brain characteristics is unknown. Specifically, altered brain networks at the root of speech and language deficits remain to be identified. Patients with pathogenic variants in GRIN2A offer an opportunity to interrogate the impact of glutamate receptor dysfunction on brain development...
April 2024: Neurology. Genetics
#6
JOURNAL ARTICLE
Myriam Ben Fredj, Marwa Messaoud, Sabrine Ben Youssef, Salma Mani, Syrine Laaribi, Rania Sakka, Hayet Ben Hmida, Amine Ksiaa, Mongi Mekki, Mohsen Belghith, Lassaad Sahnoun
BACKGROUND: we aim to discuss the origin and the differences of the phenotypic features and the management care of rare form of disorder of sex development due to Mosaic monosomy X and Y chromosome materiel. METHODS: We report our experience with patients harboring mosaic monosomy X and Y chromosome material diagnosed by blood cells karyotypes and cared for in our department from 2005 to 2022. RESULTS: We have included five infants in our study...
May 7, 2024: Italian Journal of Pediatrics
#7
Kelsey B Eitel, Anna Zenno, Carolina Di Blasi, Patricia Y Fechner, Juanita K Hodax
Turner syndrome (TS) is a sex chromosome abnormality characterized by short stature and primary hypogonadism with increased risk for cardiovascular disease, osteopenia, metabolic syndrome, diabetes mellitus, abnormal liver enzymes, and impairment of nonverbal learning skills. Gender-diverse youth include youth who have a gender identity that is different from their sex assigned at birth. They have an increased risk of suicidality, which is decreased in those who receive gender-affirming care. There have been no prior reports on the association or management of gender-diverse youth with TS...
May 2024: JCEM Case Rep
#8
Carol-Anne Martin, Kata Sarlós, Clare V Logan, Roshan Singh Thakur, David A Parry, Anna H Bizard, Andrea Leitch, Louise Cleal, Nadia Shaukat Ali, Mohammed A Al-Owain, William Allen, Janine Altmüller, Miriam Aza-Carmona, Bushra A Y Barakat, Jimena Barraza-García, Amber Begtrup, Massimo Bogliolo, Megan T Cho, Jaime Cruz-Rojo, Hassan Ali Mundi Dhahrabi, Nursel H Elcioglu, GOSgene, Gráinne S Gorman, Rebekah Jobling, Ian Kesterton, Yoshihito Kishita, Masakazu Kohda, Polona Le Quesne Stabej, Asam Jassim Malallah, Peter Nürnberg, Akira Ohtake, Yasushi Okazaki, Roser Pujol, Maria José Ramirez, Anya Revah-Politi, Masaru Shimura, Paul Stevens, Robert W Taylor, Lesley Turner, Hywel Williams, Carolyn Wilson, Gökhan Yigit, Laura Zahavich, Fowzan S Alkuraya, Jordi Surralles, Alejandro Iglesias, Kei Murayama, Bernd Wollnik, Mehul Dattani, Karen E Heath, Ian D Hickson, Andrew P Jackson
No abstract text is available yet for this article.
May 2, 2024: American Journal of Human Genetics
#9
Zachary Dickey, Navneet Sharma
Idiopathic brachial neuritis is an uncommon disorder that predominately affects the superior and middle trunks of the brachial plexus. Severe throbbing and aching shoulder pain is initially present for a period of days to weeks, followed by severe weakness and atrophy that can develop for an extended period of months to years. There are currently no known treatments for brachial neuritis, with the standard of care consisting of analgesics and corticosteroids, which typically provide minimal to no benefit in most cases...
March 2024: Curēus
#10
REVIEW
Elodie Fiot, Juliane Léger, Laetitia Martinerie
Managing patients unable to produce sex steroids using gonadotropins to mimic minipuberty in hypogonadotropic hypogonadism, or sex steroids in patients with Klinefelter or Turner syndrome, is promising. There is a need to pursue research in this area, with large prospective cohorts and long-term data before these treatments can be routinely considered.
June 2024: Endocrinology and Metabolism Clinics of North America
#11
REVIEW
Svetlana A Yatsenko, Selma F Witchel, Catherine M Gordon
This review focuses on primary amenorrhea and primary/premature ovarian insufficiency due to hypergonadotropic hypogonadism. Following a thoughtful, thorough evaluation, a diagnosis can usually be discerned. Pubertal induction and ongoing estrogen replacement therapy are often necessary. Shared decision-making involving the patient, family, and health-care team can empower the young person and family to successfully thrive with these chronic conditions.
June 2024: Endocrinology and Metabolism Clinics of North America
#12
JOURNAL ARTICLE
Rachel J Sharkey, Chelsea Bacon, Zeru Peterson, Kelly Rootes-Murdy, Raymond Salvador, Edith Pomarol-Clotet, Andriana Karuk, Philipp Homan, Ellen Ji, Wolfgang Omlor, Stephanie Homan, Foivos Georgiadis, Stefan Kaiser, Matthias Kirschner, Stefan Ehrlich, Udo Dannlowski, Dominik Grotegerd, Janik Goltermann, Susanne Meinert, Tilo Kircher, Frederike Stein, Katharina Brosch, Axel Krug, Igor Nenadic, Kang Sim, Gianfranco Spalletta, Nerisa Banaj, Scott R Sponheim, Caroline Demro, Ian S Ramsay, Margaret King, Yann Quidé, Melissa Jane Green, Dana Nguyen, Adrian Preda, Vince Calhoun, Jessica Turner, Theo van Erp, Thomas Nickl-Jockschat
Formal thought disorder (FTD) is a clinical key factor in schizophrenia, but the neurobiological underpinnings remain unclear. In particular, the relationship between FTD symptom dimensions and patterns of regional brain volume loss in schizophrenia remains to be established in large cohorts. Even less is known about the cellular basis of FTD. Our study addresses these major obstacles by enrolling a large multi-site cohort acquired by the ENIGMA Schizophrenia Working Group (752 schizophrenia patients and 1256 controls), to unravel the neuroanatomy of FTD in schizophrenia and using virtual histology tools on implicated brain regions to investigate the cellular basis...
April 26, 2024: Molecular Psychiatry
#13
REVIEW
Chiara Sabbadin, Loris Marin, Jacopo Manso, Chiara Mozzato, Valentina Camozzi, Alessandra Andrisani, Cinzia Sacchetti, Caterina Mian, Carla Scaroni, Laura Guazzarotti, Filippo Ceccato
INTRODUCTION: Turner Syndrome is a rare condition secondary to a complete or partial loss of one X chromosome, leading to a wide spectrum of clinical manifestations. Short stature, gonadal dysgenesis, cardiovascular malformations, and dysmorphic features characterize its common clinical picture. AREAS COVERED: The main endocrine challenges in adolescent girls with Turner Syndrome are puberty induction (closely intertwined with growth) and fertility preservation...
April 25, 2024: Expert Review of Endocrinology & Metabolism
#14
JOURNAL ARTICLE
Xiaoqin Zhan, Hadhimulya Asmara, Paul Pfaffinger, Ray W Turner
Fragile X Syndrome arises from the loss of Fragile X Messenger Ribonucleoprotein (FMRP) needed for normal neuronal excitability and circuit functions. Recent work revealed that FMRP contributes to mossy fiber LTP by adjusting Kv4 A-type current availability through interactions with a Cav3-Kv4 ion channel complex, yet the mechanism has not yet been defined. In this study using wild-type and Fmr1 knockout (KO) tsA-201 cells and cerebellar sections from male Fmr1 KO mice, we show that FMRP associates with all subunits of the Cav3...
April 25, 2024: Journal of Neuroscience
#15
JOURNAL ARTICLE
Carl-Joachim Partsch, Christof Land, Roland Werner Pfäffle, Karl Otfried Schwab, Heide Sommer
INTRODUCTION: Growth hormone (GH) treatment in children with growth hormone deficiency (GHD), short children born small for gestational age (SGA), and Turner syndrome (TS) is well established. However, a variety of parameters are still under discussion to achieve optimal growth results and efficiency of GH use in real world treatment. METHODS: German GH-treatment naïve patients of the PATRO Children database were grouped according to their start of treatment into groups of 3 years from 2007 to 2018...
April 25, 2024: Hormone Research in Pædiatrics
#16
JOURNAL ARTICLE
Anne-Sophie Ceuppens, Pieter De Meester, Alexander Van De Bruaene, Jens-Uwe Voigt, Kristel Van Calsteren, Werner Budts, Els Troost
BACKGROUND: Aortic dilatation and pregnancy are major concerns in women with aortopathy (AOP). This single-centre retrospective analysis focuses on the evolution of aortic diameters during and after pregnancy in women with Marfan syndrome (MS), Turner syndrome (TS) and bicuspid aortic valve (BAV) aortopathy. METHODS AND RESULTS: Thirty-eight women who had one or more single pregnancies were included. The ascending aorta was measured during pregnancy and postpartum...
March 2024: Obstetric Medicine
#17
JOURNAL ARTICLE
Shun Moriguchi, Yuri Mukoyama, Fumihiko Takizawa, Atsushi Ogawa, Tetsushi Ogawa, Junko Ito, Yukishige Yanagawa, Chinatsu Komiyama, Rieko Niitsu, Tsuyoshi Isojima
Cardiovascular disease is one of the most important complications in girls and women with Turner syndrome (TS). Although the latest international guideline provides useful suggestions for the management of cardiovascular diseases in TS, some unknown cardiac conditions warrant physicians' attention and awareness. Here, we have reported two adult cases wherein significant cardiovascular diseases were detected during the transition period. The first case patient was diagnosed with aortic crank deformity and left subclavian artery aneurysm at 14 years based on the report of cardiac catheterization, computed tomography angiography, and cardiac magnetic resonance imaging, which had remained undetected by annual evaluations using transthoracic echocardiography (TTE)...
April 23, 2024: Endocrine Journal
#18
REVIEW
Matteo Lampitto, Marco Barchi
Sex chromosome aneuploidies are among the most common variations in human whole chromosome copy numbers, with an estimated prevalence in the general population of 1:400 to 1:1400 live births. Unlike whole-chromosome aneuploidies of autosomes, those of sex chromosomes, such as the 47, XXY aneuploidy that causes Klinefelter Syndrome (KS), often originate from the paternal side, caused by a lack of crossover (CO) formation between the X and Y chromosomes. COs must form between all chromosome pairs to pass meiotic checkpoints and are the product of meiotic recombination that occurs between homologous sequences of parental chromosomes...
April 23, 2024: Cellular and Molecular Life Sciences: CMLS
#19
JOURNAL ARTICLE
Jonathan Blackman, Victoria Grace Gabb, Neil Carrigan, Alfie Wearn, Saba Meky, James Selwood, Bhavisha Desai, Hugh D Piggins, Nicholas Turner, Rosemary Greenwood, Elizabeth Coulthard
Sleep is fundamental to health. The aim of this study was to analyse and determine factors predicting sleep quality during and after national lockdowns due to severe acute respiratory syndrome coronavirus 2 (COVID-19) in the UK. A longitudinal online survey-based study (SleepQuest) involving UK adults was administered in Spring 2020, Winter 2020, and Winter 2022 including questionnaires probing sleep quality, depression, anxiety, beliefs about sleep, demographics, COVID-19 status, and exercise. The primary outcome was sleep quality (Pittsburgh Sleep Quality Index)...
April 23, 2024: Journal of Sleep Research
#20
Alfonsus Zeus Suryawan, Dian Tjahyadi, Martin Hermawan, Doni Aprialdi
INTRODUCTION: Correlation of Turner syndrome (TS) with germ cell malignancy is acknowledge in TS patient with Y chromosome material but not otherwise. This case report wishes to highlight yolk sac tumor occurrence in patients with TS 46XX karyotype mosaicism. CASE REPORT: A 23-year-old nulligravid woman was admitted with abdominal mass and vaginal bleeding. She had primary amenorrhea and had already been diagnosed with TS. Her karyotype was 46XX with 5% X mosaicism...
2024: International Journal of Women's Health
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