Results 111 to 120 of about 444,410 (285)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

stuDy oF accuracy oF commonly useDFetal Parameters For estimation oF gestational age

Journal of Nepal Medical Association, 2006
Estimation of the gestational age by sonographic measurements of fetal parameters is usually done by measuring mean sac diameter (MSD), Crown-rump length (CRL), biparietal diameter (BPD), head circumference (HC), femoral length (FL) and abdominal ...
Dan Bahadur Karki, U K Sharma, R K Rauniyar   +2 more
doaj   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Calendarios obstétricos y regla para la fecha probable de parto

Revista Cubana de Medicina General Integral, 1997
Se realizan 2 calendarios obstétricos para hallar la edad gestacional a partir del mes de inicio de la última menstruación hasta la fecha deseada o de consulta, basados en los días que posee cada mes, y de la misma forma se creó una regla sencilla y ...
Eligio Cándido Brito Méndez
doaj  

Effect of maternal anthropometry and metabolic parameters on fetal growth

Indian Journal of Endocrinology and Metabolism, 2012
Objective: The aim of this study was to determine the effect of maternal anthropometry and metabolic parameters on neonatal anthropometry. Materials and Methods: This observational cross-sectional study was conducted from January 2008 to June 2009 at a ...
Subarna Mitra, Sujata Misra, Prasanta K Nayak, Jaya Prakash Sahoo   +3 more
doaj   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source

Transplanting neural stem cells overexpressing miRNA‐21 can promote neural recovery after cerebral hemorrhage through the SOX2/LIN28‐let‐7 signaling pathway

Animal Models and Experimental Medicine, EarlyView.
Abstract Background Intracerebral hemorrhage (ICH) remains a devastating neurological disorder with limited therapeutic options. Neural stem cell (NSC)‐based therapies have emerged as a potential regenerative approach, yet the molecular mechanisms regulating NSC behavior require further elucidation.
Wei Dai, Yongxia Li, Jiarui Du, Gang Shen, Meimei Fan, Zuopeng Su, Fulin Xu, Fang Yuan   +7 more
wiley   +1 more source

The reasons why women with small for gestational age babies stop breastfeeding : a thesis presented in partial fulfilment of the requirements for the Master of Arts in Midwifery at Massey University [PDF]

, 2000
There has been a multitude of research literature on breastfeeding benefits, incidence and duration of breastfeeding, characteristics of women who breastfeed and formula feed, and variables associated with breastfeeding initiation and success in the ...
Hutchings, Sarah Louise
core  

Neutrophil‐to‐lymphocyte and monocyte‐to‐lymphocyte ratios as inflammatory markers in the assessment of glycemic status in diabetic patients of Asir region

Animal Models and Experimental Medicine, EarlyView.
Neutrophil‐to‐lymphocyte ratio (NLR) and monocyte‐to‐lymphocyte ratio (MLR) were investigated as potential markers. A total of 3545 subjects were included in the analysis retrospectively. Adult men and women with impaired glucose metabolism were assessed. NLR and MLR may help assess inflammation in individuals with impaired glucose metabolism. Abstract
Ayed A. Dera, Abeer Abdullah Alghamdi, Mesfer Al‐Shahrani, Reem M. Al‐Gahtani, Bashayer Saad Alghamdi, Gaffar Sarwar Zaman, Mohammed Abdul Rasheed, Hassan Al‐Shehri, Lana Al‐qhtani, Syed Parween Ali, Umme Hani, Talha Bin Emran   +11 more
wiley   +1 more source