scholarly journals Torticollis as the Main Presentation in a Child with Russell-Silver Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Mohsen Javadzadeh ◽  
Hedieh Saneifard ◽  
Amir Hossein Hosseini
Keyword(s):  
Genetic Disorder ◽  
Postnatal Growth ◽  
The Body ◽  
Poor Growth ◽  
Triangular Face ◽  
Postnatal Growth Retardation ◽  
Significant Difference ◽  
Males And Females ◽  
Silver Syndrome ◽  
Two Sides

Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years. The main clinical features include low birth weight, poor growth postnatally, short height, and discrepancies in size between the two sides of the body Abu-Amera et al. (2008), Binder et al. (2011). There is no statistical significant difference in prevalence between males and females. We report a case of Russell-Silver syndrome with intrauterine and postnatal growth retardation, triangular face, and body asymmetry, in addition to torticollis as a novel manifestation. In neck sonography, we found asymmetry of sternocleidomastoid muscles. In conclusion, we describe torticollis as a presentation of Russell-Silver syndrome.

scholarly journals Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1461
Author(s):  
Yerai Vado ◽  
Arrate Pereda ◽  
Isabel Llano-Rivas ◽  
Nerea Gorria-Redondo ◽  
Ignacio Díez ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Genetic Disorder ◽  
Panel Study ◽  
Uniparental Disomy ◽  
Postnatal Growth ◽  
Triangular Face ◽  
Chromosome 11P15 ◽  
Postnatal Growth Retardation ◽  
Feeding Difficulties ◽  
Silver Russell Syndrome

Silver–Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Molecular causes are not clear in all cases, the most common ones being loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for chromosome 7 (upd(7)mat) (≈10%). However, pathogenic variants in genes such as CDKN1C, HMGA2, IGF2, or PLAG1 have also been described. Previously, two families and one sporadic case have been reported with PLAG1 alterations. Here, we present a case of a female with clinical suspicion of SRS (i.e., intrauterine and postnatal growth retardation, triangular face, psychomotor delay, speech delay, feeding difficulties). No alterations in methylation or copy number were detected at chromosomes 11p15 and 7 using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The custom panel study by next-generation sequencing (NGS) revealed a frameshift variant in the PLAG1 gene (NM_002655.3:c.551delA; p.(Lys184Serfs *45)). Familial studies confirmed that the variant was inherited from the mother and it was also present in other family members. New evidence of pathogenic alterations in the HMGA2-PLAG1-IGF2 pathway suggest the importance of studying and taking into account these genes as alternative molecular causes of Silver–Russell syndrome.

scholarly journals The occurrence of Contracaecum sp. larvae (Nematoda : Anisakidae) in the catfishClarias gariepinus (Burchell) from Lake Chivero, Zimbabwe

2004 ◽  
Vol 71 (1) ◽  
Author(s):  
M. Barson
Keyword(s):  
Significant Relationship ◽  
Condition Factor ◽  
Clarias Gariepinus ◽  
Parasite Prevalence ◽  
Body Cavity ◽  
The Body ◽  
Nematode Parasites ◽  
Significant Difference ◽  
Third Stage ◽  
Males And Females

Clarias gariepinus were collected from Lake Chivero, Zimbabwe, and examined for nematode parasites from November 2000 to May 2002. Of the 202 specimens collected, 42.6 % were infected with third-stage larvae of Contracaecum sp. in the body cavity. The intensity of the infection was 1-7 worms per fish (mean intensity = 2.2). Seasonal variation in the prevalence of the parasite was not obvious and there was no significant difference in the prevalence of infection between males and females (c2 = 2.228; P > 0.05). No significant relationship between host size and prevalence was established. There was also no significant relationship between intensity and the body condition factor (r = 0.11; P > 0.05). The low parasite prevalence may have been caused by the disruption of the infection cycle since piscivorous birds, which are the final hosts of the parasite, do not feed on C. gariepinus in Lake Chivero.

scholarly journals Study of Second and Fourth Digit Lengths and Their Ratios With Physical Attributes in Nepali Population

2018 ◽  
Vol 16 (2) ◽  
pp. 78-81
Author(s):  
Biswas Satyal ◽  
Abhishek Satyal
Keyword(s):  
Ring Finger ◽  
The Body ◽  
Behavioral Traits ◽  
Digit Ratios ◽  
Hand Deformities ◽  
Significant Difference ◽  
Physical Attributes ◽  
Physical Traits ◽  
Left And Right ◽  
Males And Females

Introduction: The ratio of the lengths of the index and the ring finger (2D:4D ratio) is generally different between men and women. A number of studies have shown a correlation between the 2D:4D digit ratio and various physical and behavioral traits. The aim of the present study is to investigate the association of the index (2nd) and ring (4th) digit ratios with some physical traits in Nepal population. Material & Method: 200 students (100 males and 100 females) between ages of 18 years and above were randomly selected with exclusion of those with hand deformities. The digit lengths were measured from the basal crease to the tips usingvernier calipers. The 2D:4D ratios were determined for each subject while height and weight were used to calculate the body mass index and data analyzed. The study was conducted between January 2018 to November 2018. Result: The result of the anthropometric study of the differences in index (2D) and ring (4D) and their ratios shows that there was a significant difference between the length of index finger (2D), ring finger (4D) and the ratios of right hand's 2D:4D in both males and females. There was appositive correlation between the second digit length and Height and weight in males and females both on right and left sides. The 2D:4D ratio for both left and right hand did not show any positive correlation with height, weight or BMI of an individual.

scholarly journals Are there sex differences in the body size of the Eurasian red squirrel in Slovakia?

2015 ◽  
Vol 1 (1) ◽  
pp. 5-12 ◽  
Author(s):  
Alexander Čanády ◽  
Ladislav Mošanský ◽  
Peter Krišovský
Keyword(s):  
Function Analysis ◽  
Tail Length ◽  
The Body ◽  
Red Squirrel ◽  
Sexual Interaction ◽  
Mean Values ◽  
Foot Length ◽  
Significant Difference ◽  
Hind Foot ◽  
Males And Females

Abstract Sexual dimorphism of the Eurasian red squirrel on five somatic variables (head-and-body length, tail length, hind foot length, ear length and body weight) was evaluated on 55 squirrels. The overlap of values of the measured traits among sexes was high, but in all traits (with exception of the tail length) males seem to exhibit slightly higher mean values than females. However, these differences were non-significant, with the exception of a small significant difference in the tail length and tail-to-head-and-body ratio. Similarly, the results of discriminant function analysis show no differences between the sexes. Positive correlation analyses, together with PCA values, confirmed that tail length and hind foot length are traits that play a significant role in overall variability. We suggest that this relationship could explain their mutual importance in locomotion, where the feet are essential for movement in the trees. By contrast, the tail maintains balance on thin branches, or during jumps from one crown to another. Longer tails also demonstrate differential selection on males and females for a locomotor trait. Similarly, we discuss whether variations in tail length were connected to female reproductive success. Our results suggest that the non-significant results regarding SSD provide the benefit of the same size for both sexes in the protection of territory as well as inter- and intra-sexual interaction.

scholarly journals SUN-609 Livoletide (AZP-531), an Unacylated Ghrelin Analogue, Improves Hyperphagia and Food-Related Behaviors Both in Obese and Non-Obese People with Prader-Willi Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Rania Harisseh ◽  
Thomas Delale ◽  
Michael Yeh ◽  
Soraya Allas
Keyword(s):  
Genetic Disorder ◽  
The Body ◽  
Controlled Study ◽  
Prader Willi Syndrome ◽  
Obese People ◽  
Double Blind ◽  
Unacylated Ghrelin ◽  
Pivotal Study ◽  
Significant Difference ◽  
Significant Burden

Abstract Prader-Willi syndrome (PWS) is a rare, complex neuro-developmental genetic disorder characterized by hyperphagia and abnormal food-related behaviors that contribute to severe morbidity and early mortality and to significant burden on patients and caregivers. While a majority of people with PWS is obese, hyperphagia is observed in both obese and non-obese people with PWS. There is currently no approved treatment for hyperphagia in PWS. People with PWS have increased circulating levels of the orexigenic hormone acylated ghrelin (AG) with a relative deficit of unacylated ghrelin (UAG), a hormone which counteracts many of AG’s effects. Livoletide (AZP-531) is a first-in-class UAG analogue previously shown to improve hyperphagia, food-related behaviors, and metabolic parameters, and to be well-tolerated in a Phase 2a trial in PWS. [Allas S et al. (2018) PLoS ONE 13(1): e0190849] Here we present additional analyses that examine the effects of livoletide in obese vs non-obese people with hyperphagia in PWS. Methods: The Phase 2a trial was a randomized, double-blind, placebo-controlled study which included 47 people with PWS. Participants received a daily subcutaneous injection of livoletide (n=23) or placebo (n=24) during a 2-week treatment period. The study population was divided based on the body mass index (BMI) into obese (BMI ≥ 30 kg/m2) and non-obese (BMI < 30 kg/m2) groups. The effect of livoletide on hyperphagia and food-related behaviors was assessed by the change from baseline in the 9-item Hyperphagia Questionnaire (HQ). Results: There was a total of 34 obese and 13 non-obese subjects in the study. As expected, baseline BMI, body weight (BW) and waist circumference (WC) were significantly higher in obese vs. non-obese PWS subjects (BMI: 42.6 ± 6.0 vs 26.1 ± 2.8, BW: 103.5 ± 23.0 vs 68.5 ± 9.1 and WC: 118.3 ± 15.5 vs 91.8 ± 7.7, respectively, p<0.0001). There was no significant difference with respect to the ratios of males to females or of deletion to non-deletion between the 2 populations. Hyperphagia scores were similar at baseline for obese and non-obese participants (HQ score adjusted for 0 to 36 scale to reflect 9-item HQ-CT: 12.8 ± 7.0 vs 14.0 ± 7.8, p=0.6083, respectively). Fasting AG and UAG levels were lower in the obese vs. non-obese groups (AG: 93.6 ± 72.6 vs 122.1 ± 54.4, p=0.0275, UAG: 123.9 ± 87.2 vs 154.1 ± 62.6, p=0.0219, respectively). Livoletide-treated participants experienced similar improvements in hyperphagia and food-related behaviors as measured by the HQ whether they were obese or non-obese. Conclusions: These results highlight the potential of livoletide for treating hyperphagia in both obese and non-obese people with PWS and hyperphagia. Livoletide is being investigated further in the ZEPHYR Phase 2b/3 trial, an ongoing pivotal study on the long-term safety and efficacy of livoletide in the treatment of hyperphagia and food-related behaviors in people with PWS.

Flight of the Chinese white pine beetle (Coleoptera: Scolytidae) in relation to sex, body weight and energy reserve

2010 ◽  
Vol 101 (1) ◽  
pp. 53-62 ◽  
Author(s):  
H. Chen ◽  
Z. Li ◽  
S.H. Bu ◽  
Z.Q. Tian
Keyword(s):  
Body Weight ◽  
Lipid Content ◽  
Flight Time ◽  
The Body ◽  
Flight Distance ◽  
Glucose Content ◽  
Chinese White ◽  
Significant Difference ◽  
Males And Females ◽  
Better Than

AbstractThe flight distance, flight time and individual flight activities of males and females of Dendroctonus armandi were recorded during 96-h flight trials using a flight mill system. The body weight, glucose, glycogen and lipid content of four treatments (naturally emerged, starved, phloem-fed and water-fed) were compared among pre-flight, post-flight and unflown controls. There was no significant difference between males and females in total flight distance and flight time in a given 24-h period. The flight distance and flight time of females showed a significant linear decline as the tethered flying continued, but the sustained flight ability of females was better than that of males. The females had higher glycogen and lipid content than the males; however, there was no significant difference between both sexes in glucose content. Water-feeding and phloem-feeding had significant effects on longevity, survival days and flight potential of D. armandi, which resulted in longer feeding days, poorer flight potential and lower energy substrate content. Our results demonstrate that flight distances in general do not differ between water-fed and starved individuals, whereas phloem-fed females and males fly better than water-fed and starved individuals.

Simple Versus Elaborate Behavior in Grasshoppers an Analysis of Communication in the Genus Syrbula

Behaviour ◽  
1972 ◽  
Vol 42 (3-4) ◽  
pp. 291-321 ◽  
Author(s):  
Daniel Otte
Keyword(s):  
Reproductive Isolation ◽  
Courtship Behavior ◽  
Species Recognition ◽  
Pair Formation ◽  
The Body ◽  
Males And Females ◽  
Selection For ◽  
Two Sides ◽  
The Brain ◽  
Simple Behavior

AbstractThe species in the genus Syvbula possess more elaborate courtship behavior than other Orthoptera. This fact is difficult to explain because other species living in similar situations possess very simple behavior. Pair formation is achieved through the attraction of females to stridulating males, or through reciprocal stridulating and approaching between males and females. Occasionally females attract males by singing spontaneously. The two Syrbula species live together in parts of Texas. Reproductive isolation is ensured and needless sexual interactions are prevented by call differences; i.e., females respond only to the songs of their own species. Elaborate courtship is omitted when pairs are formed through an exchange of calling signals. However, in the presence of sexually unreceptive females, males perform elaborate courtship behavior. The movements of appendages are mostly synchronous suggesting they are controlled by a single command from the brain; however, some asymmetry of movements exists (the appendages on the two sides of the body assume different positions and may be out of phase with one another) indicating a more complicated control system than exists in the European species, GomPhocerus rufus. Males assume a position nearly parallel to the female during courtship and the near appendages perform one set of movements and the far appendages a different set. Each side of the body can perform both sets of movements. Intermale rivalry takes several forms: stealing of females by non-calling or non-courting males, the production of male-identifying or male-spacing signals and, possibly, chorusing. The causes for the evolution of elaborate behavior are unknown. It may have evolved due to sexual selection or due to the fact that females of Syrbula require some special sort of priming before each mating. Selection for reproductive isolation does not usually seem to result in elaboration of courtship in grasshoppers. Sexual dimorphism is pronounced and its importance may lie in sexual or species recognition.

scholarly journals Virchow Seckel Syndrome: The First Case in Iraq and the Early Documentation of the Syndrome in the Literature.

2020 ◽  
pp. 1-4 ◽  
Keyword(s):  
Medical Literature ◽  
Rare Condition ◽  
Autosomal Recessive Inheritance ◽  
Bone Age ◽  
Postnatal Growth ◽  
The Body ◽  
Poor Growth ◽  
Genetic Syndrome ◽  
Seckel Syndrome ◽  
First Case

Abstract Background: Virchow Seckel syndrome or bird-headed dwarfism syndrome is a very rare genetic syndrome characterized by intrauterine and postnatal growth retardation with very poor growth of the body and head, narrow bird-like face with a peculiar nose, mental retardation and other congenital abnormalities. An autosomal recessive inheritance and a heterogeneous nature of the condition have been expected. This Virchow Seckel syndrome has not been reported in Iraq. Patients and methods: Four years and four months old girl was referred to the pediatric neuropsychiatry clinic of the Children Teaching Hospital of Baghdad Medical City because of significant growth and developmental retardation. The child was studied and the relevant medical literature was reviewed with aim of describing the early documentation of her rare condition in the medical literature. Results: The girl weight at birth was about 1.5 kilograms. She was experiencing very poor growth and her height was 72 cm and her weight 6 kilograms. She had low set ears, small head with narrow face, downward slanting eyebrows and a peculiar nose. She was also mentally retarded with poor language development. Family history was negative for similar cases. Bone age assessment was performed using radiographs of the left and wrist, left elbow, hips and knee and showed delayed bone age of about one year. Conclusion: During the first century of documentation of this syndrome (1882-1981, about 35 were reported in the literature and in this paper, the first case of this syndrome in Iraq is described.

An Objective Measure of the Subjective Pain Response Resulting from Lumbar Muscle Fatigue Due to Lifting

2009 ◽  
Vol 53 (14) ◽  
pp. 869-873
Author(s):  
Susan Kotowski ◽  
Kermit Davis ◽  
Lisa Lemen
Keyword(s):  
Muscle Pain ◽  
Latency Period ◽  
The Body ◽  
Resonance Spectroscopy ◽  
Brain Response ◽  
Significant Difference ◽  
Pain Pathway ◽  
Males And Females ◽  
Lifting Task ◽  
The Brain

Pain is one of the body's least understood biological responses. Pain measurement often relies on the perception of the individual without any link to known objective responses within the body. The objective of the study was to relate a quantitative measurement of pain obtained by Magnetic Resonance Spectroscopy (MRS), which analyzes chemical shifts in the brain, to perceived pain responses, as measured by ratings of pain. A lifting task was performed to achieve lumbar musculature fatigue, and induce muscle pain. Prior to, immediately following, and 24-hours post, MRS scans were recorded to document chemicals in the brain. All of the participants elicited significant fatigue during the lifting task that resulted in significant pain immediately following and 24-hrs after fatiguing exertions. However, for the majority of brain chemical responses, there was not a significant pattern. The exception was the significant difference in brain response between males and females. Although the results were not completely conclusive in establishing a pain pathway, several key conclusions can be drawn: 1) pain processing appears to be different between males and females, 2) pain pathway to the brain is complex and maybe the underlying reason why low back pain is so elusive, and 3) chemical response may be different, depending upon the location in the brain. Future work will need to better delineate the latency period for muscle pain and changes in the neurosensory system in the brain.

scholarly journals 11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

2007 ◽  
Vol 92 (8) ◽  
pp. 3148-3154 ◽  
Author(s):  
Irène Netchine ◽  
Sylvie Rossignol ◽  
Marie-Noëlle Dufourg ◽  
Salah Azzi ◽  
Alexandra Rousseau ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Scoring System ◽  
Postnatal Growth ◽  
Postnatal Growth Retardation ◽  
Body Asymmetry ◽  
Phenotypic Correlations ◽  
Center Region ◽  
Imprinting Center ◽  
Clinical Scoring ◽  
Silver Syndrome

Abstract Context: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry, spares cranial growth. Maternal uniparental disomy for chromosome 7 (mUPD7) is found in 5–10% of cases. We identified loss of methylation (LOM) of 11p15 Imprinting Center Region 1 (ICR1) domain (including IGF-II) as a mechanism leading to RSS. Objective: The aim was to screen for 11p15 epimutation and mUPD7 in RSS and non-RSS small-for-gestational-age (SGA) patients and identify epigenetic-phenotypic correlations. Studied Population and Methods: A total of 127 SGA patients were analyzed. Clinical diagnosis of RSS was established when the criterion of being SGA was associated with at least three of five criteria: postnatal growth retardation, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties. Serum IGF-II was evaluated for 82 patients. Results: Of the 127 SGA patients, 58 were diagnosed with RSS; 37 of these (63.8%) displayed partial LOM of the 11p15 ICR1 domain, and three (5.2%) had mUPD7. No molecular abnormalities were found in the non-RSS SGA group (n = 69). Birth weight, birth length, and postnatal body mass index (BMI) were lower in the abnormal 11p15 RSS group (ab-ICR1-RSS) than in the normal 11p15 RSS group [−3.4 vs.−2.6 sd score (SDS), −4.4 vs.−3.4 SDS, and −2.5 vs.−1.6 SDS, respectively; P < 0.05]. Among RSS patients, prominent forehead, relative macrocephaly, body asymmetry, and low BMI were significantly associated with ICR1 LOM. All ab-ICR1-RSS patients had at least four of five criteria of the scoring system. Postnatal IGF-II levels were within normal values. Conclusion: The 11p15 ICR1 epimutation is a major, specific cause of RSS exhibiting failure to thrive. We propose a clinical scoring system (including a BMI < −2 SDS), highly predictive of 11p15 ICR1 LOM, for the diagnosis of RSS.

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