Rara deleção parcial do braço longo do cromossomo 14 caracterizada por anomalias oculares (anoftalmia/microftalmia, ptose, hipertelorismo, exoftalmia), anomalias hipofisárias (hipoplasia/aplasia hipofisária com deficiência de hormônio do crescimento e retardo de crescimento) e anomalias de mãos/pés (polidactilia, dedos curtos, pés cavos). Outras características clínicas podem incluir hipotonia muscular, atraso no desenvolvimento psicomotor/deficiência intelectual, sinais dismórficos (assimetria facial, microretrognatia, palato arqueado alto, anomalias do ouvido), malformações geniturinárias congênitas, deficiência auditiva. Deleções 14q22 menores podem ter expressão variável.
Introdução
O que você precisa saber de cara
Rara deleção parcial do braço longo do cromossomo 14 caracterizada por anomalias oculares (anoftalmia/microftalmia, ptose, hipertelorismo, exoftalmia), anomalias hipofisárias (hipoplasia/aplasia hipofisária com deficiência de hormônio do crescimento e retardo de crescimento) e anomalias de mãos/pés (polidactilia, dedos curtos, pés cavos). Outras características clínicas podem incluir hipotonia muscular, atraso no desenvolvimento psicomotor/deficiência intelectual, sinais dismórficos (assimetria facial, microretrognatia, palato arqueado alto, anomalias do ouvido), malformações geniturinárias congênitas, deficiência auditiva. Deleções 14q22 menores podem ter expressão variável.
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Back pain in an adolescent: not just a sore spine!
Acute lymphoblastic leukaemia (ALL) can mimic diverse musculoskeletal conditions, often resulting in diagnostic delays. Genetic predisposition to various cancer syndromes further complicates the clinical picture, influencing disease presentation and treatment response. We report an adolescent boy who presented with a 2-month history of episodic fever, persistent low back pain and non-migratory joint pain, with a history of growth failure, developmental delay and seizures since childhood. There was a history of malignancy in multiple family members. The clinical examination revealed no features suggestive of systemic involvement. The joint examination revealed swelling around the knee joints. Initial work-up for chronic infections and autoimmune diseases was negative. Magnetic resonance imaging spine findings of multiple T2 hyperintense lesions warranted a bone marrow examination, which confirmed the diagnosis of Ph+ B- ALL. Molecular analysis revealed a pathogenic heterozygous missense variant in the TP53 gene, leading to the diagnosis of Li-Fraumeni syndrome. This case highlights the importance of recognizing musculoskeletal symptoms as a potential presentation of ALL. Early consideration of leukaemia in the differential diagnosis can prevent delays in treatment, ultimately improving outcomes.
A cartilage-targeted IGF-1-antibody fusion protein as a new therapeutic approach for IGF-1 deficiency.
Growth hormone (GH) insensitivity syndrome (GHIS) is a childhood growth disorder characterized by an inability to generate insulin-like growth factor-1 (IGF-1) in response to GH. Consequently, GH therapy is ineffective in patients with GHIS. Patients are often treated with recombinant IGF-1 instead, which requires twice daily injections and is associated with adverse effects including hypoglycemia. In the current study, we evaluated CV1623-1, a cartilage-targeted antibody-like IGF-1 fusion protein as a potential new treatment for GHIS and for other disorders of linear growth involving IGF-1 deficiency. Using Ghrhrlit mice as a model for IGF-1 deficiency, we found that CV1623-1 stimulated the growth plate at a lower dose and decreased dose frequency than IGF-1. Alternate day injections of CV1623-1 significantly increased body weight, tail length and tibial bone length. In addition, CV1623-1, unlike IGF-1, did not induce hypoglycemia. Taken together, our findings indicate that CV1623-1 represents a promising new drug candidate for GHIS with improved efficacy, longer duration of action, and reduced hypoglycemia compared to the current treatment, recombinant IGF-1. Preclinical studies and clinical trials would be required to further validate the safety and efficacy of CV1623-1, paving the way for its potential clinical application as a new treatment for GHIS.
From childhood malnutrition to adult mental illness: COVID-19 and the hidden legacy of malnutrition.
The impact of stunting, thinness and obesity on depression and anxiety during challenging times, such as COVID-19, has not been adequately explored. This study aimed to estimate these relationships using longitudinal data from the four countries: Ethiopia, India, Peru and Vietnam. We conducted an analysis using data from the Younger Cohort of the Young Lives study, which tracked 8000 children from 2002 to 2021. The first five rounds of the study assessed nutrition (stunting, thinness and obesity). The sixth round evaluated outcomes at three different time points. For the analyses, we employed a random effects ordered logistic regression model. During the COVID-19 pandemic, experiencing stunting in a previous assessment round was associated with higher levels of depression (OR=1.34, p=0.025). Each additional year of stunting duration was linked to a greater severity of depression (OR=1.08, p=0.018). Additionally, longer durations of thinness were associated with an 11% increased risk of depression (OR=1.11, p=0.021). Meanwhile, experiencing stunting at least once over the five assessment rounds and the duration of stunting showed a weaker association with anxiety (OR=1.18, p=0.090) and (OR=1.06, p=0.065), respectively. Stunting and thinness are linked to increased rates of depression and anxiety during the COVID-19 pandemic. These findings highlight the importance of ongoing health investments and the need to incorporate child nutrition programmes into disaster preparedness plans to address the long-term effects of malnutrition.
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European journal of pediatrics[Advance in research on MIRAGE syndrome].
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European journal of orthodonticsRapid and Efficient Aerosol Delivery During 60 L/min High Flow Nasal Cannula Therapy-In Vitro Development of a Novel Dry Powder Delivery Platform.
AAPS PharmSciTechEngineered CAR-T-Derived Exosomes Co-Delivering miR-145 and Cytotoxic Proteins for Targeted Solid Tumour Therapy.
Journal of extracellular vesiclesMicrobiome-assisted plant breeding: integrating host-microbiome interactions into crop improvement.
Archives of microbiologyReproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio.
Climacteric : the journal of the International Menopause SocietyFirst Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.
American journal of medical genetics. Part ADe Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.
American journal of medical genetics. Part AEarly pregnancy biomarkers of inflammation and metabolic regulation in polycystic ovary syndrome.
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Toxicology mechanisms and methodsModulation of tocotrienol's bone effects by osteocytes: a perspective.
Frontiers in pharmacologyEmodin inhibits breast tumorigenesis in the comorbidity of hyperlipidemia and associated with IL-17 suppression.
Biochemistry and biophysics reportsNovel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.
Frontiers in endocrinologyA Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome.
Clinical case reportsResource Availability Modulates Gene Expression Across Life Stages in a Migratory Butterfly.
Molecular ecologyDevelopment of an integrative cross-omics approach for conceptual adverse outcome pathway network construction.
Environment internationalMicroneedle-based delivery of cell membrane vesicles as IL-17RA decoys for Psoriasis treatment.
Journal of nanobiotechnologyOSGEP-Associated Galloway-Mowat Syndrome: A Longitudinal Genotype-Phenotype Correlation from Prenatal Imaging Markers to Lifespan Neurologic-Renal Trajectories.
QJM : monthly journal of the Association of PhysiciansPINCH proteins orchestrate vascular mural cell homeostasis through integrated signaling and transcriptional networks.
AngiogenesisExpanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.
European journal of pediatricsBMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.
American journal of medical genetics. Part AInterplay of probiotics, prebiotics, synbiotics and postbiotics: a review of their therapeutic potential for gastrointestinal inflammation.
Food research international (Ottawa, Ont.)Marfan Before Marfan? Iconodiagnostic Analysis of a Possible Marfan Spectrum Phenotype in an Etruscan Sculpture.
Clinical geneticsChoroidal neovascularization secondary to punctate inner choroidopathy after resolution of multiple evanescent white dot syndrome: A case report.
MedicineTrehalose: A Promising Therapeutic Agent for Diverse Pathological Conditions.
Current medical scienceNeurocognitive outcomes in children with craniosynostosis after surgical correction: a narrative review.
Annals of medicine and surgery (2012)CTNNB1-related disorders: clinical and radiological contributions from a French cohort.
Frontiers in neurologyNatural history of large adrenal tumors.
Frontiers in endocrinologyEvolution of calyx diversity in angiosperms: a focus on transcriptomic repatterning mechanisms underlying inflated fruiting calyx within Solanaceae.
The Plant journal : for cell and molecular biologyHaloTag-based approach to quantify subcellular localization of TRPV3 channels.
Biophysical journalAnesthetic management of a patient with McCune-Albright syndrome complicated by pathological cervical fracture: a case report.
BMC anesthesiologyNavigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.
BMJ case reportsStable expression of Interleukin-18 in a live-attenuated PRRSV backbone confers safe and potent immune protection in pigs.
International journal of biological macromoleculesArgon laser therapy for primary type 1 pterygium management, a randomized control trial: Six months follow up.
Archivos de la Sociedad Espanola de OftalmologiaUpdating guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD) in Poland.
Advances in clinical and experimental medicine : official organ Wroclaw Medical UniversityDevelopment and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.
Disease models & mechanismsExpression of TGFB1 and ERK in cumulus cells: Implications for oocyte maturation in women with polycystic ovary syndrome: A cross-sectional study.
International journal of reproductive biomedicineComparison of frozen embryo transfer outcomes in hormonal vs. mild stimulation protocols in polycystic ovary syndrome women: A randomized controlled trial.
International journal of reproductive biomedicineJAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities.
International journal of oral scienceDendrobium officinale inhibits colorectal cancer progression by induction of glutathione peroxidase 4-mediated ferroptosis.
Chinese journal of natural medicinesTwo-Step Clinical Pathways to Cardiovascular Mortality in Chronic Kidney Disease and Dialysis -- A Narrative Review.
Journal of atherosclerosis and thrombosisSPIN4-related X-linked overgrowth in a family.
European journal of medical geneticsStudy on the anti-pulmonary fibrosis mechanism of Renshen Pingfei formula by inhibiting M2 macrophage polarization and regulating TGF - β/SMAD signaling pathway.
Journal of ethnopharmacologyThe S100A8/A9 complex promotes food intake and prevents adipose tissue loss during cancer cachexia in mice.
Cell metabolismTargeting non-canonical NF-κB signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha.
The British journal of dermatologyDifficulties in diagnosing a pediatric patient with small intestinal bacterial overgrowth.
Einstein (Sao Paulo, Brazil)Exploring the role of TWIST1 in malocclusion and craniofacial morphology.
Frontiers in physiologyCase Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.
Frontiers in cardiovascular medicineGlobal Research Trends in Dietary Polyphenols for Preventing Non-Communicable Chronic Diseases: A Bibliometric Study.
Food science & nutritionAdalimumab in the management of refractory idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome: a case report and literature review.
BMC ophthalmologyMicroglandular adenosis, triple negative breast carcinoma and DNA repair defects.
Journal of clinical pathologySlBBX20 is a regulator of plant development in response to shade in tomato.
Plant physiology and biochemistry : PPBEndothelial dysfunction in APS: advancing pathophysiological understanding to improve management.
Current opinion in immunologyOnce-weekly somapacitan in children with Noonan syndrome: randomized controlled phase 3 trial.
European journal of endocrinologyScoliosis in Escobar Syndrome: Retrospective Review of Surgical Outcomes, Risks, and Radiographic Patterns.
Journal of pediatric orthopedicsEstrogen deficiency and risk of hearing loss in pediatric Turner syndrome.
The Journal of clinical investigationBridging the gap: Prevotella/Segatella's impact on gut barrier function and advanced cultivation strategies to realize the uses in gut health.
Gut microbesEffects of fibroblast growth factor 2 on muscle precursor cells from mouse limb and extraocular muscle.
PloS oneComparison of preoperative and intraoperative cultures for predicting postoperative urinary tract infections following supine PCNL.
World journal of urologyIncreased fibroblast growth factor 21 is associated with metabolic syndrome in chronic spinal cord injury: A cross-sectional study.
The journal of spinal cord medicinePathophysiology of androgen-associated endothelial cell dysfunction in phenotype A polycystic ovarian syndrome revealed by iPSCs modeling.
Frontiers in endocrinology[Analysis of maternal and fetal outcomes and related factors of recurrence in women with a history of pre-eclampsia].
Zhonghua fu chan ke za zhiNeurotoxicity of acrylamide in wild-type and TNF-α depletion mice: possible alternative role of IL-6 and dipolar effects of TNF-α depletion on oxidative stress pathway.
The Journal of toxicological sciencesPatient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model.
MitochondrionRigid intramedullary nailing with suprapatellar approach for tibial shaft fractures in adolescents with open physes.
InjuryDNMT3A R882C variant in a patient with a presumed pineal gland tumor, highlighting potential tumor susceptibility in Tatton-Brown-Rahman syndrome.
Cancer geneticsProbiotic efficacy of Bacillus amyloliquefaciens TL106 from Tibetan pigs in metabolic syndrome: modulation of gut microbiota and metabolic in sows and suckling piglets.
MicrobiomeEvaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.
Cell death & diseaseEarly abstinence in severe alcohol use disorder: MCP-1 decline, choroid plexus shrinkage, and region-specific grey-matter volume changes.
Translational psychiatryA Robust Methodological Framework for Generating Whole-Brain and Cortical Organoids From Diverse Healthy- and Patient-Derived Induced Pluripotent Stem Cell Lines.
Biology of the cellCytokines and growth factors produced and released by human eosinophils: lessons from cocultures and omics studies.
Journal of leukocyte biologyActivity of Ponatinib and Vitamin K2 Against Myelodysplastic Syndrome and Acute Myeloid Leukemia Cells.
Anticancer researchAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Back pain in an adolescent: not just a sore spine!
- A cartilage-targeted IGF-1-antibody fusion protein as a new therapeutic approach for IGF-1 deficiency.Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 41877483mais citado
- From childhood malnutrition to adult mental illness: COVID-19 and the hidden legacy of malnutrition.
- Efficacy of heparin in respiratory support of near-term rabbits with meconium-induced acute lung injury: Linear regression model analyses.
- Psychological Factors Predict Response to a Low Fermentable Oligo-, di-, Monosaccharide and Polyol Dietary Intervention in Irritable Bowel Syndrome: A Prospective Cohort Study.
- Right ventricular function in pulmonary hypertension and obesity: a cross-sectional cohort study with survival follow-up.
- The de novo FAIRification process of a registry for vascular anomalies.
- Improving the analysis of composite endpoints in rare disease trials.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2055(Orphanet)
- OMIM OMIM:609640(OMIM)
- MONDO:0012324(MONDO)
- Busca completa no PubMed(PubMed)
- Q55783684(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
