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1.
Artigo em Inglês | MEDLINE | ID: mdl-39311760

RESUMO

Floating-Harbor syndrome is a sporadic autosomal dominantly inherited malformation syndrome characterized by typical craniofacial findings, proportional short stature, significantly delayed bone age, delayed expressive language, delayed speech, and normal head circumference. It is caused by heterozygous mutations in the SNF2-associated CBP activator protein gene (SRCAP) located on chromosome 16. Here, we report 9 years and 4 months old male patient who presented to the pediatric genetics outpatient clinic with retardation in early developmental stages, dysmorphic facial features, and short stature. The patient was diagnosed with Floating-Harbor syndrome with typical facial features and clinical findings. A triangular face, short filtrum, posteriorly rotated ear, deep-set eyes, bulbous nose, prominent columella, and low hairline are unique facial features in the syndrome. He also has short stature, significant retardation in bone age, and retardation in expressive language. Floating-Harbor syndrome should be remembered in the differential diagnosis of patients evaluated for short stature and learning disability with its unique facial features. By reporting a new case of Floating-Harbor syndrome we aimed to expand the clinical and molecular spectrum in this rare syndrome and increase diagnostic awareness for pediatric endocrinology practitioners.

2.
Artigo em Inglês | MEDLINE | ID: mdl-39277901

RESUMO

OBJECTIVES: We hypothesised that growth hormone (GH) deficiency (GHD) in children with attention deficit hyperactivity disorder (ADHD) is rare. This study aimed to determine any distinct clinical or biochemical parameters, including GH provocation testing, in children with ADHD on psychostimulants or idiopathic short stature (ISS). METHODS: Retrospective cross-sectional study of children who had GH provocative testing between 1998 and 2013 at one tertiary paediatric endocrine centre. Clinical data included age, sex, anthropometry, pubertal staging, bone age, diagnostic code as per the European Society Paediatric Endocrinology (ESPE), GH provocation test results, thyroid function tests, serum insulin-like growth factor-1 (IGF-1) and insulin-like growth factor-binding protein-3 (IGFBP-3) levels. RESULTS: Four hundred ninety-three subjects underwent GH provocation testing for investigation of short stature to exclude GHD during the study period. Fifty-one children had a diagnosis of ADHD. In the remaining children, the diagnosis was Idiopathic short stature (n=240), GHD +/- hypopituitarism (n=60), and 142 subjects had other causes of short stature. Children with ADHD were older, had higher height and weight SDS and were GH-sufficient. All 51 children with ADHD had a normal serum IGFBP-3, while 20 out of these 51 subjects had a low serum IGF-1. CONCLUSIONS: GHD in children with ADHD on psychostimulant medication is rare. GH testing in children with ADHD may not be necessary, particularly if serum IGFBP-3 is in the normal range. We suggest IGFBP-3 could be used as a surrogate marker of GH sufficiency in children with ADHD. However, this needs to be confirmed with a larger study group.

3.
Endokrynol Pol ; 75(4): 428-437, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39279312

RESUMO

INTRODUCTION: Short stature is one of the main reasons for consultation in outpatient clinics and paediatric endocrinology departments and is defined as height below the 3rd centile or less than -2 standard deviations (SDs). MATERIAL AND METHODS: The study's overarching aim was to analyse the PAPP-A2 gene at mutation sites described to date and at exons 3, 4, and 5, which encode the fragment of the catalytic domain with the active site of the pregnancy-associated plasma protein A2 (PAPP-A2) protein. The secondary aims of the study were clinical and auxological analysis of a group of patients with idiopathic short stature and biochemical analysis of growth hormone-insulin-like growth factor-1 (GH-IGF-1) axis parameters not assessed as part of the routine diagnosis of short stature, such as free IGF-1, insulin-like growth factor binding protein 5 (IGFBP-5), and acid-labile subunit (ALS) levels. Molecular analysis of the PAPP-A2 gene was performed using polymerase chain reaction (PCR) and direct sequencing. Biochemical analysis of free IGF-1, IGFBP-5, and ALS was performed by enzyme-linked immunosorbent assay (ELISA). RESULTS: The mean height standard deviation score (HSDS) in the study group was -2.95. None of the patients exhibited previously described mutations in the PAPP-A2 gene or mutations in exons 3, 4, and 5 encoding the fragment of catalytic domain with the active site of the PAPP-A2 protein. In 4 patients, the known, non-pathogenic, heterozygotic polymorphism c.2328C>T(rs10913241) in exon 5 was found. CONCLUSIONS: Free IGF-1 levels correlate better with height and HSDS than total IGF-1 levels. The previously described mutations in the PAPP-A2 gene and mutations in exons 3, 4, and 5 encoding the fragment of catalytic domain with the active site of the PAPP-A2 protein were not detected; only the known and non-pathogenic, heterozygotic polymorphism c.2328C>T(rs10913241) in exon 5 of the PAPP-A2 gene was observed.


Assuntos
Proteína 5 de Ligação a Fator de Crescimento Semelhante à Insulina , Fator de Crescimento Insulin-Like I , Proteína Plasmática A Associada à Gravidez , Humanos , Proteína Plasmática A Associada à Gravidez/genética , Proteína Plasmática A Associada à Gravidez/metabolismo , Proteína Plasmática A Associada à Gravidez/análise , Feminino , Fator de Crescimento Insulin-Like I/genética , Fator de Crescimento Insulin-Like I/análise , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Criança , Adolescente , Proteína 5 de Ligação a Fator de Crescimento Semelhante à Insulina/genética , Proteínas de Transporte/genética , Glicoproteínas/genética , Glicoproteínas/sangue , Transtornos do Crescimento/genética , Transtornos do Crescimento/sangue , Mutação , Pré-Escolar
4.
Am J Clin Nutr ; 2024 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-39289146

RESUMO

Universal growth standards for under-five children, given the worldwide variation in healthy growth and several determinants of anthropometry, are imprecise measures of nutritional status, particularly when used cross-sectionally. In constructing the global-use WHO growth standard, linear growth differences between contributing sites and pooled mean were >0.2 SD in 37% of observations. Systematic reviews confirm even greater variability, notably amplified for weight-for-age and head-circumference-for-age metrics. Unsurprisingly, developed nations had higher, and LMICs lower, growth dimensions. Contextual growth references predict neonatal morbidities, pathological short stature, macrocephaly, cardiometabolic risk factors, and adult noncommunicable diseases better than the WHO standards. Child body composition also varies contextually, with greater adiposity despite comparable weights in South Asian populations. Thus, contextual references, though not the perfect solution, are better suited for everyday practice and nutrition policy. Growth standards should only be used as a screening for clinical judgments aided by precise biomarkers.

5.
Genet Med ; : 101280, 2024 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-39315526

RESUMO

PURPOSE: Defects in the gene encoding selenocysteine insertion sequence binding protein 2, SECISBP2, result in global impaired selenoprotein synthesis manifesting a complex syndrome with characteristic serum thyroid function tests due to impaired thyroid hormone metabolism. Knowledge about this multisystemic defect remains limited. METHODS: Genetic and laboratory investigations were performed in affected members from six families presenting with short stature, failure to thrive. RESULTS: Four probands presented a complex neurodevelopmental profile, including absent speech, autistic features, and seizures. Pediatric neurological evaluation prompted genetic investigations leading to the identification of SECISBP2 variants before knowing the characteristic thyroid tests in two cases. Thyroid hormone treatment improved motor development, while speech and intellectual impairments persisted. This defect poses great diagnostic and treatment challenges for clinicians, as illustrated by a case that escaped detection for 20years, as SECISBP2 was not included in the neurodevelopmental genetic panel, and his complex thyroid status prompted anti-thyroid treatment instead. CONCLUSION: This syndrome uncovers the role of selenoproteins in humans. The severe neurodevelopmental disabilities manifested in four patients with SECISBP2 deficiency highlight an additional phenotype in this multisystem disorder. Early diagnosis and treatment are required, and long-term evaluation will determine the full spectrum of manifestations and the impact of therapy.

6.
Mol Genet Genomic Med ; 12(9): e70009, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39286962

RESUMO

BACKGROUND: Cornelia de Lange syndrome (CdLS) is an uncommon congenital developmental disorder distinguished by intellectual disorder and distinctive facial characteristics, with a minority of cases attributed to RAD21 variants. METHODS: A patient was admitted to the endocrinology department at Peking Union Medical College Hospital, where 2 mL of peripheral venous blood was collected from the patient and his parents. DNA was extracted for whole-exome sequencing (WES) analysis, and the genetic variation of the parents was confirmed through Sanger sequencing. RESULTS: A 13.3-year-old male patient with a height of 136.5 cm (-3.5 SDS) and a weight of 28.4 kg (-3.1 SDS) was found to have typical craniofacial features. WES revealed a pathogenic variant c.1143G>A (p.Trp381*) in the RAD21 gene. He was diagnosed with CdLS type 4 (OMIM #614701). We reviewed 36 patients with CdLS related to RAD21 gene variants reported worldwide from May 2012 to March 2024. Patient's variant status, clinical characteristics, and rhGH treatment response were summarized. Frameshift variants constituted the predominant variant type, representing 36% (13/36) of cases. Clinical features included verbal developmental delay and intellectual disorder observed in 94% of patients. CONCLUSION: This study reported the third case of CdLS type 4 in China caused by a RAD21 gene variant, enriching the genetic mutational spectrum.


Assuntos
Proteínas de Ciclo Celular , Proteínas de Ligação a DNA , Síndrome de Cornélia de Lange , Humanos , Síndrome de Cornélia de Lange/genética , Síndrome de Cornélia de Lange/patologia , Masculino , Proteínas de Ciclo Celular/genética , Proteínas de Ligação a DNA/genética , Adolescente , Fosfoproteínas/genética , Fenótipo , Mutação , Sequenciamento do Exoma
7.
Pediatr Nephrol ; 2024 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-39292251

RESUMO

Schimke immuno-osseous-dysplasia (SIOD) is an autosomal recessive systemic disease due to pathogenic variants in SMARCAL1. Manifestations include nephrotic syndrome (NS), kidney failure, T-cell dysfunction, vaso-occlusive disease, and disproportionate short stature, a general feature of this disease. Here, we present a markedly different growth pattern in two brothers with SIOD sharing the same homozygous R561C missense variant. The index patient presented at the age of 11 years with NS and severely disproportionate short stature, followed by kidney failure at the age of 16, and severely reduced adult height (z-score - 8.0). In contrast, the younger brother showed normal growth until the age of 8 years. Mild proteinuria was noted at the age of 4.5, followed by NS at 9.5 years, kidney failure at 11 years, progressive disproportionate stature, and reduced adult height (z-score - 4.5). Both brothers had comparable disproportion in adulthood (sitting height index z-score - 0.88 and - 1.44, respectively).

8.
Animals (Basel) ; 14(18)2024 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-39335342

RESUMO

The objective of this study was to estimate the heritability of dairy production traits and that for dimensional traits and to calculate the correlation between the two heritability values in a Holstein Friesian cow herd bred in Hungary. Data of 15,032 Holstein Friesian cows born in the period 2008-2018 from 666 sires were collected for the study in 6 large dairy herds. Among the conformation traits, stature (ST), chest width (CW), body depth (BD), and rump width (RW), and for production traits, in the first lactation of cows, the 305-day milk yield (MY), milk butterfat yield (FY), and milk protein yield (MY) were evaluated. Heritability estimates of ST, CW, BD, and RW were 0.49, 0.25, 0.31, and 0.30, and those of MY, FY, and PY were 0.40, 0.35, and 0.30, respectively. BD and RW had no phenotypic (b = -0.01) or genetic (b = 0.00-0.01) change. The production traits (MY, FY, PY) increased to a greater extent (b = 2.2-43.3) than the examined conformation traits over time. Consequently, it is indicated that the selection for dairy production did not result in an increase in the studied dimensional traits.

9.
Ital J Pediatr ; 50(1): 192, 2024 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-39334216

RESUMO

BACKGROUND: Silver-Russell Syndrome (SRS, MIM #180860) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation; SRS is also accompanied by dysmorphic features such as triangular facial appearance, broad forehead, body asymmetry and significant feeding difficulties. The incidence is unknown but estimated at 1:30,000-100,000 live births. The diagnosis of SRS is guided by specific criteria described in the Netchine-Harbison clinical scoring system (NH-CSS). CASE PRESENTATION: Hereby we describe four patients with syndromic short stature in whom, despite fitting the criteria for SRS genetic analysis (and one on them even meeting the clinical criteria for SRS), molecular analysis actually diagnosed a different syndrome. Some additional features such as hypotonia, microcephaly, developmental delay and/or intellectual disability, and family history of growth failure, were actually discordant with SRS in our cohort. CONCLUSIONS: The clinical resemblance of other short stature syndromes with SRS poses a risk of diagnostic failure, in particular when clinical SRS only criteria are met, allowing SRS diagnosis in the absence of a positive result of a genetic test. The presence of additional features atypical for SRS diagnosis becomes a red flag for a more extensive and thorough analysis. The signs relevant to the differential diagnosis should be valued as much as possible since a correct diagnosis of these patients is the only way to provide the appropriate care pathway, a thorough genetic counselling, prognosis definition, follow up setting, appropriate monitoring and care of possible medical problems.


Assuntos
Síndrome de Silver-Russell , Humanos , Feminino , Masculino , Síndrome de Silver-Russell/genética , Síndrome de Silver-Russell/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Criança , Nanismo/genética , Nanismo/diagnóstico , Lactente , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética
11.
Front Pharmacol ; 15: 1458487, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39329130

RESUMO

Background: Epilepsy during recombinant human growth hormone (rhGH) therapy is rare in children. The potential association between rhGH treatment and epilepsy remains unclear. Methods: We retrospectively analyzed the clinical data of two Chinese boys who experienced epilepsy during the use of rhGH and reviewed the relevant literature. Results: Case 1, an 8-year and 2-month-old boy, was diagnosed with short stature, malnutrition, and congenital hypothyroidism. He was on levothyroxine sodium tablets for a long time. Recurrent febrile convulsions were present at 6-7 years. Electroencephalogram and magnetic resonance imaging (MRI) showed no abnormality, and no treatment was given. He was diagnosed with complex febrile convulsions. The boy started rhGH treatment (approximately 0.15 IU/kg/day, sc, qd) at 8 years and 4 months. Epilepsy occurred three times during the 6 months of rhGH treatment. Electroencephalography confirmed a definitive diagnosis of epilepsy. Then, he discontinued rhGH treatment at 8 years and 11 months and started taking levetiracetam (0.25 g, po, bid) for antiepileptic therapy. Epilepsy was well-controlled 4 months later. He continued rhGH treatment at 10 years and 3 months and has been on rhGH treatment until now, with no recurrence of epilepsy. He has been taking levetiracetam to date. Case 2, a 9-year and 1-month-old boy, was diagnosed with central precocious puberty, predicted short final height, and overweight. He started treatment with triptorelin (3.75 mg, im, q4w) and rhGH (approximately 0.15 IU/kg/day, sc, qd) at 9 years and 3 months. He tended to fall repeatedly when he was approximately 10 years old. Electroencephalography showed a few medium- to high-amplitude sharp waves and sporadic sharp slow waves in the left middle temporal region, sometimes involving the left posterior temporal region. He was diagnosed with epilepsy. Triptorelin discontinuance provided no symptom relief, which worsened further. Subsequently, he withdrew from rhGH treatment, and the symptoms occurred occasionally within a week and stopped after 15 days. The electroencephalogram returned to normal. No further seizures occurred during follow-up to date. Conclusion: During the use of rhGH in short-stature children with complex febrile convulsions or underlying lesions related to neurological impairment or those being treated with antiepileptic drugs, epilepsy may be induced.

12.
Cureus ; 16(8): e66497, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39246915

RESUMO

INTRODUCTION: Stature contributes as a crucial element of an individual's physical appearance and can be instrumental in establishing their identity. In cases where the body is extensively mutilated, decomposed, or reduced to skeletal remains, stature becomes an essential component in identifying the unknown by means of measuring the skeletal remains. Its estimation relies on the principle that an individual's height has a definite and linear relationship with specific body parts and long bones. This process, together with assessing age, sex, and race constitutes the essential components of the anthropological protocol. Stature estimation can be accomplished through both anatomical and mathematical approaches. The present study clearly defines regression models for height estimation from finger lengths. The formula derived can prove particularly valuable in Medico-legal scenarios, as it can be applied effectively even when only a portion of the body is accessible. AIM: The purpose of the present study is to estimate the stature of individuals by measuring the length of the index and ring fingers. MATERIALS AND METHOD: The current study acquired three measurements, such as stature, right/left index finger length (RIFL/LIFL), and ring finger length (RFL), from 220 samples, including 110 males and 110 females, respectively, between the age groups of 20 and 60 years. RESULT: The application of the length of the index and ring finger in forensic investigations holds significance due to their potential as reliable predictors of an individual's height. According to the findings of the study, males showed significantly higher stature than females. A statistically significant correlation was also observed (p-value = 0) between stature and finger lengths (IFL, RFL) in both hands. The highest correlation coefficients were found for the left RFL (r = 0.688) in females and the LIFL (r = 0.552) in males. Additionally, males showed significantly longer index and RFL than females. Linear regression models for the estimation of stature from ring and index finger length were also derived successfully. CONCLUSION:  The results obtained from the present study exhibit potential use to evaluate the utility of measuring index and RFLs for determining stature and predicting the precision of regression models by employing those parameters. The models derived from this study can serve as corroborative evidence for identifying mutilated body parts or unknown remains.

13.
JPRAS Open ; 42: 146-151, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-39308746

RESUMO

This case report details orthopaedic cosmetic surgery tourism, an emerging trend where individuals seek orthopaedic cosmetic procedures abroad. While this practice is increasingly common, it lacks regulation, potentially endangering patients. Factors driving this trend include rising healthcare costs and lengthy waitlists in public healthcare systems. Patients often pursue surgery abroad to save costs, or access specialised procedures not available domestically. However, complications can arise, necessitating costly management back home. Surgeons may face challenges due to unfamiliarity with overseas care, while patients encounter language barriers and variations in medical standards. This case report highlights a 28-year-old male who underwent bilateral limb lengthening surgery in Turkey, experiencing serious complications. While existing data on cosmetic tourism mainly focuses on plastic and bariatric surgeries, documentation specific to orthopaedic cases is limited. This report underscores the need for further research and regulation in this rapidly growing field, to ensure patient safety and optimal outcomes.

14.
J Pharm Bioallied Sci ; 16(Suppl 3): S2336-S2338, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39346452

RESUMO

Aims and Objectives: The aim of the study was to estimate the entire length of the femur from the parameters of its lower end after determining their association. Methods and Materials: The study used 200 mature, dry, completely ossified femora from an unknown sex. Twelve parametric variables related to the lower end were discovered. The measurements collected were statistically examined. Results: The measurements differed on both sides; however, the differences were not statistically significant except for the distal segment's total length, lateral condyle height, and circumference. All of the parametric factors at the lower end of the femur show a positive relationship with the overall length of the distal segment, and a regression equation has been established. Conclusions: The study provides a thorough analysis of the morphometry of the lower end of the femur. These criteria can be utilized to develop knee prostheses and plates appropriate for the adult population.

15.
Front Endocrinol (Lausanne) ; 15: 1385650, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39224124

RESUMO

Introduction: Fanconi anemia (FA) is a genomic instability disorder associated with congenital abnormalities, including short stature and the presence of central nervous system anomalies, especially in the hypothalamic-pituitary area. Thus, differences in pituitary size could associate with the short stature observed in these patients. Our aim was to evaluate whether central nervous system abnormalities and pituitary gland volume correlate with height and hormone deficiencies in these patients. Methods: In this cross-sectional exploratory study 21 patients diagnosed with FA between 2017 and 2022 in a Spanish Reference Center were investigated. Magnetic resonance imaging (MRI) was performed and pituitary volume calculated and corelated with height and other endocrine parameters. Results: The percentage of abnormalities in our series was 81%, with a small pituitary (pituitary volume less than 1 SD) being the most frequent, followed by Chiari malformation type 1. The median value of pituitary volume was -1.03 SD (IQR: -1.56, -0.36). Short stature was found in 66.7% [CI95% 43-85.4]. Total volume (mm3) increases significantly with age and in pubertal stages. There were no differences between volume SD and pubertal stage, or the presence of endocrine deficiencies. No correlations were found between pituitary volume and the presence of short stature. The intraclass correlation index (ICC) average for volume was 0.85 [CI95% 0.61-0.94] indicating a good-to-excellent correlation of measurements. Discussion: Central nervous system anomalies are part of the FA phenotype, the most frequent after pituitary hypoplasia being posterior fossa abnormalities, which may have clinical repercussions in the patient. It is therefore necessary to identify those who could be candidates for neurosurgical intervention. The size of the pituitary gland is smaller in these patients, but this does not seem to be related to hormone deficiency and short stature or exposure to a low dose of total body irradiation.


Assuntos
Anemia de Fanconi , Imageamento por Ressonância Magnética , Hipófise , Humanos , Masculino , Feminino , Hipófise/diagnóstico por imagem , Hipófise/patologia , Hipófise/anormalidades , Estudos Transversais , Anemia de Fanconi/patologia , Anemia de Fanconi/complicações , Criança , Adolescente , Pré-Escolar , Adulto , Adulto Jovem , Sistema Nervoso Central/anormalidades , Sistema Nervoso Central/patologia , Sistema Nervoso Central/diagnóstico por imagem , Tamanho do Órgão
16.
J Nippon Med Sch ; 91(4): 410-416, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39231645

RESUMO

BACKGROUND: Although short stature is sometimes treatable in children, family members do not always realize that their children have short stature. To develop better educational materials for identifying short stature, we conducted a questionnaire survey on children with short stature. Using the results of the survey, we revised educational activities regarding short stature. METHODS: To assess the effectiveness of the revised activities, we examined changes in the numbers of consultations before and after the changes to the educational activities, the height of children examined after such changes, the test implementation rate, and the test results. RESULTS: After the start of direct promotion for school nursing staff in 2015, the number of outpatients with short stature who visited the hospital significantly increased (16.1/year before 2014 vs. 68.8/year after 2015; p = 0.02). The number of patients hospitalized for a growth hormone secretion stimulation test also significantly increased, from 9.3/year before 2014 to 47.0/year after 2015 (p = 0.02). However, 35% of families did not want to subject their child to a growth hormone stimulating test, even if their child was extremely short. CONCLUSIONS: Our revised educational activities for short stature among school nursing staff, school physicians, and nurses at health centers were more effective than conventional activities consisting of public relations magazines and lectures for the general public. It is important to provide proper explanations to enable a better understanding of hormone therapy.


Assuntos
Estatura , Humanos , Criança , Inquéritos e Questionários , Feminino , Masculino , Conscientização , Transtornos do Crescimento/diagnóstico , Educação em Saúde/métodos
17.
Front Neurosci ; 18: 1441563, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39268030

RESUMO

Introduction: Most infants born as small for gestational age (SGA) demonstrate catch up growth by 2-4 years, but some fail to do so. This failure is associated with several health risks, including neuropsychological development issues. However, data on the morphological characteristics of the brains of infants born as SGA without achieving catch up growth are lacking. This study aims to determine the structural aspects of the brains of children born as SGA without catch up growth. Methods: We conducted voxel- and surface-based morphometric analyses of 1.5-T T1-weighted brain images scanned from eight infants born as SGA who could not achieve catch up growth by 3 years and sixteen individuals with idiopathic short stature (ISS) to exclude body size effects. Growth hormone (GH) secretion stimulation tests were used to rule out GH deficiency in all SGA and ISS cases. The magnetic resonance imaging data were assessed using Levene's test for equality of variances and a two-tailed unpaired t-test for equality of means. The Benjamini-Hochberg procedure was used to apply discovery rate correction for multiple comparisons. Results: Morphometric analyses of both t-statical map and surface-based analyses using general linear multiple analysis determined decreased left insula thickness and volume in SGA without catch up growth compared with ISS. Conclusion: The brain scans of patients with SGA who lack catch up growth indicated distinct morphological disparities when compared to those with ISS. The discernible features of brain morphology observed in patients born as SGA without catch up growth may improve understanding of the association of SGA without catch up growth with both intellectual and psychological outcomes.

18.
Cureus ; 16(8): e66692, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39268253

RESUMO

Verheij syndrome (VRJS) is a rare genetic disorder characterized by a range of developmental issues and physical abnormalities. This condition is caused by mutations or deletions in the PUF60 (poly-U-binding factor 60 kDa) gene, which is located on the long arm of chromosome 8, specifically in the q24.3 region. We present a unique case of an 11-year-old girl child with VRJS. The child presented with absence seizures. She was noted to have short stature, spina bifida of the lower cervical vertebrae, and a smaller right kidney on ultrasonography. This case expands the phenotypic spectrum of VRJS by demonstrating a milder presentation, highlighting the importance of a high index of suspicion for the diagnosis, even in atypical presentations. Whole exome sequencing identified the causative mutation, confirming the diagnosis. Growth hormone therapy was initiated for short stature but discontinued due to the subsequent development of idiopathic intracranial hypertension. Additionally, this report represents the first documented case of VRJS in India, emphasizing the importance of global data sharing and collaboration for improving the understanding and management of rare genetic disorders.

19.
Paediatr Child Health ; 29(5): 306-310, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39281357

RESUMO

The assessment of growth during infancy and childhood is an essential component of paediatric medicine, as atypical growth may point to the existence of an underlying health condition. To reduce morbidity, it is vital that treatment for growth disorders is provided in a timely fashion. However, although there are guidelines regarding referral criteria for short stature in Europe and the USA, there are no such guidelines in Canada. To address this, a series of consultations and workshops with paediatricians, paediatric endocrinologists, family physicians and nurses were held, with the aim of developing a consensus-based set of recommendations for children in Canada showing atypical growth and to identify red flags for children who might benefit from early referral. To achieve this, a referral algorithm and referral form for primary care providers were developed to ensure timely and appropriate referrals, and transmission of the most relevant details to the secondary care consultant.

20.
J Inflamm Res ; 17: 6063-6073, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39253565

RESUMO

Purpose: Short stature is prevalent among children worldwide, particularly in developing countries. Various trace elements, including zinc, magnesium, iron, copper, chromium and selenium, are crucial for proper body development. The aim of this study is to explore the relationship between trace elements and TNF-α and IL-6 to elicit and possible pathway responsible for short stature. Methods: Two hundred and twenty samples were recruited for this study, 100 short statures and 120 controls were randomly selected. Six trace elements were measured using graphite furnace atomic absorption spectrometry. The concentrations of IL-6 and TNF-α in serum were assessed utilizing the Enzyme-Linked-Immunosorbent Assay (ELISA). Superoxide dismutase was also analysed to determine the oxidative stress response. Results: The study revealed notable distinctions in serum trace element levels of short stature. They exhibited significant lower levels of zinc and magnesium, alongside higher levels of copper. The altered Cu/Zn ratio seemed to have a positive correlation with short stature. Conversely, no significant disparities were observed in iron, chromium, and selenium levels. Furthermore, a significant rise was noted in proinflammatory marker TNF-α and cytokine IL-6. Additionally, superoxide dismutase was low in the short statures In silico study shows a high affinity of Zinc with TNF alpha. It may be suggested that inflammation at any time during childhood, with the rise in TNF alpha tightly binds with zinc and may have led to a decrease in zinc serum levels, altered redox homeostasis and resulted in short stature. Conclusion: The altered Cu/Zn ratio along with high TNF alpha and IL6 may be used as a marker for short stature in the initial years of growth in children before they reach maturity at the age of 18. Thereafter, introducing zinc supplementation could potentially enhance stature by mitigating TNF-alpha level. Further experimental studies will help to establish the exact role of zinc with TNF alpha in short stature.

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