Short stature
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Part 2 book "Step on to paediatrics" includes content: Jaundic, blood vomiting, lymph node enlargement; pallor or anaemia; pallor, bleeding and fever; bruising and bleeding; puffy face and scanty urine; smoky red urine, dysuria; excessive urine output (polyuria); sudden paralysis of limbs, convulsion; developmental delay; abnormal behaviour; short stature, difficulties in movement and posture; accidents and emergencies; parasitic infestations; common surgical problems of children; fluid, electrolytes and acid base homeostasis; instruments & procedures in paediatrics; model ospe for practice.
202p zizaybay1101 30-04-2024 3 2 Download
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Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors.
10p vioraclene 31-03-2024 3 1 Download
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Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed. A 5-year and 9-month-old otherwise healthy Yemeni girl presented to her Yemen physician for evaluation of inward bending of her right knee and short stature.
6p vitiki 30-01-2024 6 2 Download
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Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS, OMIA 001595–9940) is a previously reported recessively inherited disorder in Australian Poll Merino/Merino sheep. Affected lambs are stillborn with various congenital defects as reflected in the name of the disease, as well as short stature, a short and broad cranium, a small thoracic cavity, thin ribs and brachysternum.
11p vihagrid 30-01-2023 8 3 Download
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Growth hormone deficiency (GHD) is one of the most important endocrine and treatable causes of short stature. Insulin-like growth factor 1 (IGF-1) concentration is not recommended to establish the diagnosis of GHD. The aim of our study was to analyze the relevance of IGF-1 concentration as a screening test for the diagnosis of GHD.
8p viporsche 28-10-2022 6 2 Download
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Dwarfism is characterized by short stature. Pregnancy in women with dwarfism is uncommon and cesarean section is generally indicated for delivery. Patients with dwarfism are high-risk population for both general and regional anesthesia, let alone in an emergency surgery.
3p viisaacnewton 25-04-2022 12 1 Download
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Foxtail millet (Setaria italica) has been developed into a model genetical system for deciphering architectural evolution, C4 photosynthesis, nutritional properties, abiotic tolerance and bioenergy in cereal grasses because of its advantageous characters with the small genome size, self-fertilization, short growing cycle, small growth stature, efficient genetic transformation and abundant diverse germplasm resources.
13p vijeeni2711 24-07-2021 19 0 Download
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The mechanism of body growth in mammals is poorly understood. Here, we investigated the regulatory networks involved in body growth through transcriptomic analysis of pituitary and epiphyseal tissues of smaller sized Debao ponies and Mongolian horses at the juvenile and adult stages.
15p vilichoo2711 25-06-2021 13 1 Download
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Multiple epiphyseal dysplasia is a common skeletal dysplasia characterized by mild short stature, early-onset osteoarthritis mainly involving the hip and knee joints, and abnormally small and/or irregular epiphyses.
6p viannito2711 20-04-2021 9 2 Download
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Limb lengthening with external fixation is performed to treat patients with leg length discrepancy or short stature. Although the procedure has a high rate of success, one potential drawback from limb lengthening is the amount of time spent in the fixation device while regenerate bone consolidates.
8p vioregon2711 22-02-2021 10 2 Download
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Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height.
6p vivermont2711 28-01-2021 9 2 Download
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Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities.
6p vivermont2711 28-01-2021 7 3 Download
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Hip flexion contracture often occurs after femoral lengthening in patients with achondroplasia, but few studies have investigated its development in these patients. The purpose of this study was to analyze sustained hip flexion contracture in achondroplasia patients who underwent femoral lengthening and to identify contributing factors.
7p vivermont2711 28-01-2021 7 1 Download
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Skeletal dysplasias are rare disorders often leading to severe short stature. This study aimed to gain new comprehensive information about functioning and equality in people affected by skeletal dysplasia compared to matched controls without skeletal dysplasia.
10p vimariana2711 22-12-2020 12 1 Download
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A real-world observation was carried out. Children with ISS in seven hospitals in China were enrolled. The height gains standard deviation score and the height gain over the target height were evaluated.
7p viorochimaru2711 29-05-2020 15 1 Download
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Based on the elements that constitute the literary characters and story characters, we generalize the methods of character building from the prototype in the Nam Cao short stories before the Revolution in four aspects: Tell the background and character appearance specification from point to point; Dialogue and monologue complex language; The art of expressing unique and diverse character psychology; Characters act to experience social life. Through these four aspects, readers will find out from real life prototypes, Nam Cao has built his character to become highly lively and typical people.
16p caygaocaolon5 19-05-2020 36 3 Download
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: Kearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature of this disease, which manifest a broad phenotypic spectrum.
9p vivalanbo2711 19-03-2020 18 1 Download
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Cleidocranial dysplasia (CCD) is a rare skeletal disorder with autosomal dominant inheritance that is characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature, among other features.
4p vivalanbo2711 19-03-2020 34 2 Download
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The X-linked condition “Aarskog-Scott syndrome (AAS)” causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a causative link between AAS and mutations in the FGD1 gene, which encodes a Rho/Rac guanine exchange factor.
6p videshiki2711 19-02-2020 9 1 Download
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The main objective of this study was to assess nutritional status of the study subject. This was a cross-sectional study. Four hundred and two females (i.e. 15-49 age groups) were selected from 342 households for assessment of nutritional status. Stratified random sampling method was used for selection of seven villages. Families were selected by using Probability Proportion to size sampling technique. The primary tool in this study was predesigned and pretested interview schedule. Height, weight recording, Clinical examinations and body type of females were the part of the study.
14p trinhthamhodang3 12-02-2020 13 0 Download