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Constitutional Short Stature

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121. L’hyperthyroïdie de l’enfant au centre hospitalier universitaire de Dakar (Sénégal) (PubMed)

in the study with a prevalence of 2.4%, a sex ratio (M/F) of 0.36 and an average age of 10.8 years. The inclusion criteria were being the eldest son in a family(26.3%), being advanced (36.9%) or delayed (12.5%) in maturation, having short stature (40.1%). It was caused by Graves' disease in 90.3% of cases with psychoaffective factor in 22.1%. On a clinical point of view tachycardia (92.4%), goiter (91.1%), exophthalmia (81.8%), weight loss (69.8%) prevailed but with bed-wetting (30.2%) and psychic (...) L’hyperthyroïdie de l’enfant au centre hospitalier universitaire de Dakar (Sénégal) Hyperthyroidism in children is rare and constitutes a problem because of its psychosomatic impact. This study aimed to present an overview of the state of knowledge on these aspects in children from Dakar.We conducted a multicenter, descriptive study over a period of 15 years. We evaluated the epidemiological, clinical and etiologic aspects of hyperthyroidism in children.239 patients were included

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2017 The Pan African medical journal

122. Turner syndrome caused by rare complex structural abnormalities involving chromosome X (PubMed)

Turner syndrome caused by rare complex structural abnormalities involving chromosome X Turner syndrome (TS) is a phenotypic heterogeneous genetic disorder caused by the loss of an X-chromosome or X-structural abnormalities in the X-chromosome, and affects approximately 1 in every 2,500 females. The affected individuals may develop diverse clinical features, including short stature, ovarian dysgenesis, skeletal dysplasia, facial abnormalities and other disorders. A constitutional karyotype of 45

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2017 Experimental and therapeutic medicine

123. A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB (PubMed)

linearly through adolescence, several years after treatment had been discontinued. Final adult height was >95th percentile for age and race. In conclusion, this is a case of primary hypopituitarism with differential diagnosis of IGHD vs Idiopathic Short Stature vs Constitutional Growth Delay. This case supports two objectives: Firstly, it highlights the importance of confirmatory genetic testing in patients with suspected, though diagnostically uncertain, IGHD. Secondly, it demonstrates a novel (...) A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (<3rd percentile for age and race

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2017 Endocrinology, diabetes & metabolism case reports

124. Alcohol impacts health: A rapid Review of the Evidence

, with daily and weekly alcohol consumption limits to reduce short- and long-term health risks. Different limits are provided for men and women. The new Canadian LRDG allow a higher limit of standard drinks per week than the Ontario Low-Risk Drinking Guidelines created by the Centre for Addiction and Mental Health in 1997 and re-confirmed in 2003 (Appendix A compares the Ontario and new national guidelines). 3 Not only is the Canadian standard drink larger than many countries’ at 13.45g of alcohol (...) a lifetime risk of over 4 in 100 of dying from alcohol-related conditions/injury. These risk levels are for daily drinking at these amounts. ‡ Data from a prospective cohort study; not a SR/meta-analysis. 40.4 g/day to reduce long-term health risks (Canadian LRDG) 53.8 g/day to reduce short-term health risks (Canadian LRDG) 20 Summary of health outcomes related to alcohol consumption All-cause mortality As the average volume of alcohol consumption increases, the lifetime risk of alcohol-related disease

2013 Peel Health Library

125. Clinical practice guidelines for the management of rotator cuff syndrome in the workplace

of a shoulder disorder , but only among those with BMI lower than 25.* In contrast to this finding, four studies have found that high BMI was associated with the development of rotator cuff syndrome. *Miranda et al. 2008 (level II) 135 ; Silverstein et al. 2008 (level IV) 187 ; Bonde et al. 2003 (level IV) 26 ; D’Onise et al. 2010 (level IV) 47 ; Rechardt et al. 2010(level IV) 167 . Subject stature Short stature increased the likelihood of developing shoulder pain among trade apprentices (...) intermittently apply either heat or cold for short periods for pain relief. Recommendations 15: There must be early contact between the injured worker , workplace and health care provider . Recommendation 16: A specific and realistic goal for the RTW of the injured worker , with appropriate time frames, should be established early with outcomes measured and progress monitored. Recommendation 17: The RTW program must involve consultation and engagement with a team which includes the injured worker , relevant

2013 Clinical Practice Guidelines Portal

126. Patient Dignity (Formerly:Patient Modesty):Volume 99

could have driven myself as it turned out as I had no effect from the Valium. My heartbeat was about 125 which told the LPN I was very nervous. BP was 160 over 98. I brought along a sample pack of colonoscopy shorts and asked if there would be a problem with me wearing these. The LPN said she had never heard of this and thought it was a great idea. She took them to the doctor to inquire if this was OK for my procedure. The doctor approved them and I was allowed to put them on. I was determined (...) to wear them anyway regardless. The procedure went well. The LPN came into the room with the male ARNP. I was too close to the edge of the exam table and she had me move more to my left so I wouldn't fall off the table. I felt comfortable with the procedure shorts on. The doctor came in and got to work, first with a DRE. I noted the position of all in the room and the female LPN was positioned directly behind me facing away from me. Her job was to put the samples of the biopsy into the proper

2019 Bioethics Discussion Blog

128. American Association of Clinical Endocrinologists Medical Guidelines for Clinical Practice for the Diagnosis and Treatment of Acromegaly

; BEL 3). • R9. Cardiac evaluation including an electrocardiogram and an echocardiogram may be considered, particularly if the patient has signs or symptoms suggestive of car- diac involvement, such as arrhythmias and shortness of breath (Grade C; BEL 4). • R10. Patients with known cardiac disease should be considered for a formal cardiology consultation before a surgical procedure is performed (Grade C; BEL 4). • R11. Although there is insufficient evidence to state that patients with acromegaly (...) . Constitutional Symptoms Fatigue and weakness are commonly described by patients with acromegaly and may be prominent symp- toms. These symptoms may reflect the associated medical consequences of acromegaly, including sleep apnea syn- drome, cardiomyopathy with reduced function, hypopitu- itarism, hyperthyroidism, depressed mood, and diabetes mellitus. 5.5.7. Neoplasms An increased risk of cancer, particularly of the colon, in patients with acromegaly has been suggested largely by retrospective studies

2011 American Association of Clinical Endocrinologists

129. Breast Reduction Mammaplasty

. There is no lasting non-operative treatment for female symptomatic breast hypertrophy. Orthotic brassieres may offer some relief but often substitute increased discomfort in the shoulders through pressure created by the straps. Operative treatment with reduction mammaplasty currently offers the best approach to symptomatic relief and constitutes the most common therapy for symptomatic breast hypertrophy. 5444 East Algonquin Road • Arlington Heights, IL 60005-4664 • 847-228-9900 • www.plasticsurgery.org DIAGNOSTIC (...) CRITERIA A determination of female symptomatic breast hypertrophy is based on individual breast size and symptomatology. The diagnosis of breast hypertrophy involves a comparison of overall body stature with breast size as determined by the relative volume of breast tissue (see definition previously stated). Symptomatology The symptoms of female symptomatic breast hypertrophy involve the following: • Muscle strain, such as backache, neck pain, shoulder pain, and less frequently headache, and/or upper

2011 American Society of Plastic Surgeons

130. Evaluation and Treatment of Adult Growth Hormone Deficiency

by regulatory agencies for treatment of GHD in children and also for short stature due to causes other than GHD, such as Turner's or Noonan's syndrome, renal failure, short stature homeobox ( SHOX ) deficiency, small size for gestational age in patients who fail to catch-up to the normal growth percentiles, Prader-Willi syndrome, and idiopathic short stature. In the past, GH therapy has generally been discontinued once adult height has been achieved. Continuation of GH treatment in GH-deficient children (...) diagnosis was constitutional delay in growth and puberty and not isolated idiopathic GHD, but the initial GH provocative tests carried out without estrogen “priming” failed to make this distinction ( ). Finally, it remains possible that transient GHD in childhood is a real entity, although longitudinally obtained proof is lacking. Because of the greater GH requirements for normal growth in children, it is possible that in some patients the GHD was partial but severe enough to prevent normal growth

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2011 The Endocrine Society

131. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities (PubMed)

in the most common genes associated with Noonan, cardio-facio-cutaneous, Legius, and Costello syndromes, as well as neurofibromatosis type 1. The patient constitutional DNA exhibited a ~10.5 Mb duplication at 12p, including the KRAS gene. The index case's mother carried the same chromosome abnormality and also showed development delay with short stature, and numerous café-au-lait spots. Duplication of the KRAS gene may participate in the propositus phenotype, in particular of the specific pigmentation (...) Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities RAS/MAPK pathway germline mutations were described in Rasopathies, a class of rare genetic syndromes combining facial abnormalities, heart defects, short stature, skin and genital abnormalities, and mental retardation. The majority of the mutations identified in the Rasopathies are point mutations which increase RAS/MAPK pathway signaling. Duplications encompassing RAS

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2016 Orphanet journal of rare diseases

132. Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis (PubMed)

Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis Constitutional translocations between sex chromosomes are rather rare in humans with breakpoints at Xp11 and Yq11 as the most frequent. Breakpoints on the short arm of the Y chromosome form one subgroup of t(X;Y), giving rise to a derived chromosome with the centromeres of both the X and Y chromosomes, dic(X;Y). Here, we report a rare congenital chromosomal aberration, 46,X,dic(X;Y)(p22.33 (...) and the short stature of the proband led to a diagnosis of Léri-Weill dyschondrosteosis (LWD). The gain of almost the whole X chromosome (153,7 Mbp) was considered a variant of Klinefelter syndrome (KS). The levels of gonadotropins and testosterone were consistent with gonadal dysfunction. A malformation of the right external ear was detected.We have reported a structural aberration of the sex chromosomes, dic(X;Y)(p22.33;p11.32). The related genomic imbalance is associated with two known hereditary

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2016 Molecular cytogenetics

133. Stunting coexisting with overweight in 2·0–4·9-year-old Indonesian children: prevalence, trends and associated risk factors from repeated cross-sectional surveys (PubMed)

of twenty-seven provinces in Indonesia.Children (n 4101) from four waves of the Indonesian Family Life Survey (1993-2007).There were inconsistent trends in the prevalence of concurrent stunting and overweight from waves 1 to 4. Children were more likely to be stunted and overweight when they were in the youngest age group (2·0-2·9 years), were weaned after the age of 6 months, had short-statured mothers or lived in rural areas. Stunted children were significantly more likely to be overweight than (...) Stunting coexisting with overweight in 2·0–4·9-year-old Indonesian children: prevalence, trends and associated risk factors from repeated cross-sectional surveys The persistence of undernutrition, along with overweight and obesity, constitute the double burden of malnutrition. The present study aimed to: (i) describe the prevalence and trends of concurrent stunting and overweight in Indonesian children; (ii) identify potentially associated risk factors; and (iii) determine whether stunted

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2016 Public health nutrition

134. Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency

(family history). The child has diabetics. The child has abnormal growth and development, such as Turner's syndrome, constitutional delay of growth and puberty, Laron syndrome, growth hormone receptor deficiency, short stature girls with potential chromosomal abnormalities. The child took part in other clinical trials within 3 months. Other conditions are excluded when the investigator preclude the enrollment into the study. Contacts and Locations Go to Information from the National Library (...) ) in the treatment of short stature due to endogenous growth hormone deficiency (GHD) in the broad of population of children. Condition or disease Intervention/treatment Phase Growth Hormone Deficiency Biological: PEG-somatropin Phase 4 Study Design Go to Layout table for study information Study Type : Interventional (Clinical Trial) Estimated Enrollment : 900 participants Allocation: Randomized Intervention Model: Parallel Assignment Masking: None (Open Label) Primary Purpose: Treatment Official Title: Clinical

2016 Clinical Trials

135. Cosmetic lengthening: what are the limits? (PubMed)

Cosmetic lengthening: what are the limits? In the last decades, limb lengthening has not been limited to the treatment of patients with dwarfism and deformities resulting from congenital anomalies, trauma, tumor and infections, but, has also been used for aesthetic reasons. Cosmetic lengthening by the Ilizarov method with circular external fixation has been applied to individuals with constitutional short stature who wish to be taller.From January 1985 to December 2010, the medical records (...) of 63 patients with constitutional short stature (36 M, 27F; 126 legs) who underwent cosmetic bilateral leg lengthening using a hybrid advanced fixator according to the Ilizarov method, were reviewed, retrospectively. The mean age was 24.8 years, while the mean preoperative height was 152.6 cm. Paley's criteria were used to evaluate problems, obstacles, and complications from the time of surgery until 1 year after frame's removal.The mean lengthening achieved in all patients was 7.2 cm (range: 5-11

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2016 Journal of children's orthopaedics

136. Failure to thrive in babies and toddlers (PubMed)

Failure to thrive in babies and toddlers Failure to thrive in a child is defined as 'lack of expected normal physical growth' or 'failure to gain weight'. Diagnosis requires repeated growth measurements over time using local, age-appropriate growth centile charts. Premature babies with appropriate growth velocity and children with 'catch-down' growth, constitutional growth delay or familial short stature show normal growth variants, and usually do not require further evaluation. In Singapore

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2016 Singapore medical journal

137. Management of obesity

interventions encouraging physical activity change are useful to induce short term physical activity changes. 111 Algorithms that attempt to stage readiness to change may be more effective if tied explicitly to the specific behaviours targeted by the intervention, rather than broad general behaviours, and multiple algorithms may be required. 112-114 D Healthcare professionals should discuss willingness to change with patients and then target weight loss interventions according to patient willingness around

2010 SIGN

138. Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®): Health Professional Version

proposed a new classification system that incorporated diagnostic cytogenetic information and that more reliably correlated with outcome. In this classification, patients with t(8;21), inv(16), t(15;17), or KMT2A ( MLL ) translocations, which collectively constituted nearly half of the cases of childhood AML, were classified as AML with recurrent cytogenetic abnormalities . This classification system also decreased the bone marrow percentage of leukemic blast requirement for the diagnosis of AML from

2015 PDQ - NCI's Comprehensive Cancer Database

139. Summary for the Diagnosis of Gluten-Sensitive Enteropathy (Celiac Disease)

loss, diarrhea, abdominal distention, and occasionally, severe malnutrition. Older children may present with constitutional short stature, delayed puberty or dental enamel defects. Children and adults may present with iron or folate-deficiency anemias. Many symptoms (e.g., anemia, weight loss, bone pain, paresthesia, edema, skin disorders) are secondary to deficiency states. If intestinal symptoms (e.g., diarrhea, abdominal discomfort, distention) do not occur, the diagnosis of celiac disease may (...) not be suspected. t able 1 (symptoms include but are not limited to one or more of the following) classic symptoms Abdominal distension Abdominal pain Chronic diarrhea Anorexia Irritability Weight loss or failure to thrive in children Muscle wasting Dermatitis herpetiformis non-classic symptoms and signs Unexplained iron or folate deficiency anemia Persistent vomiting Chronic constipation Irritable bowel syndrome Aphthous stomatitis Dental enamel defects Arthritis Osteoperosis Delayed puberty Short stature

2010 Toward Optimized Practice

140. Kanuma - sebelipase alfa

Time PV Process Validation qow Every-other-week qw Once weekly rhLAL Recombinant human lysosomal acid lipase SD Standard deviation SE Standard error SF-36 36 item Short Form Health Survey SMA Smooth muscle actin SmPC Summary of product characteristics SPF specific pathogen free TFHN Transfusion-free haemoglobin normalisation TPN Total parenteral nutrition UAS Unformulated active substance UFDF Ultrafiltration Diafiltration UK United Kingdom ULN Upper limit of normal US United States WFA Weight (...) , integration of a single copy of the transgene into Gallus gallus and the correct hLAL sequence. Of the transgene G1 generation, 3 males with the same genetic characteristics of the transgene were selected for generation of the G2 transgene progeny. Transgene G2 hens were the first animals to constitute the Production Line, after a match of the genetic characteristics with that of G1 hen had been reconfirmed for a proportional number of animals. The production line includes all hens of G2 and following

2015 European Medicines Agency - EPARs

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