ABSTRACT
BACKGROUND: Paediatric endocrinology is a nascent subspecialty in Nigeria.Previous reports suggest a poor awareness of paediatric endocrine disorders resulting in late presentation, missed diagnosis and unnecessary death. OBJECTIVES: The study aims to report the prevalence of paediatric endocrine disorders at UNIOSUN Teaching Hospital (UTH) and to provide essential information to enhance early presentation and management. METHODS: This is a 10-year retrospective study of all children managed for paediatric endocrine disorders at UTH from March 2010 to March 2020. Relevant data were extracted from patients' records, entered into and analyzed with SPSS. RESULTS: Forty (0.42%) of 9,520 new consultations at UTH paediatric specialist clinic during the study period had endocrine disorders. There were 13 males and 27 females (M:F=1:2), with ages ranging from 1 month to 15.5years and 23 (57.5%) of them were under the age of 5 years. The four most common endocrine disorders were Rickets (45%), Diabetes (15%), Thyroid disorders (15%) and disorders of puberty (12.5%). There was a progressive yearly increase in the number of paediatric endocrine cases seen. At the time of this report, 34 (85%) of the patients were alive and doing very well, 5 (12.5%) has been lost to follow up and 1 (2.5%) mortality was recorded. CONCLUSION: Rickets, diabetes, thyroid disorders and disorders of puberty are the four leading paediatric endocrine disorders seen at UTH. Attrition is a notable challenge in paediatric endocrine disorders. Reasons for attrition and ways to terminate these challenges need to be identified and put into practice.
CONTEXTE: L'endocrinologie pédiatrique est une surspécialité naissante au Nigéria. Les rapports precedents suggèrent une mauvaise connaissance générale des troubles endocriniens pédiatriques entraînant une présentation tardive, un diagnostic manqué et une mort inutile. OBJECTIFS: L'étude vise à examiner la prévalence des troubles endocriniens pédiatriques au UTH et à fournir des informations essentielles pour améliorer la présentation et la prise en charge précoces. METHODES: Il s'agit d'une etude rétrospective de 10 ans de tous les enfants pris en charge pour des troubles endocriniens pédiatriques au UTH de mars 2010 à mars 2020. Les données pertinentes ont été extraites des dossiers des patients, entrées et analysées avec SPSS. RESULTATS: Quarante (0,42%) des 9 520 nouvelles consultations à la Clinique pédiatrique spécialisée UTH au cours de la période d'étude présentaient des troubles endocriniens. Il y avait 13 hommes et 27 femmes (M: F = 1: 2), âgés de 1 mois à 15,5 ans et 23 (57,5%) d'entre eux avaient moins de 5 ans. Les quatre troubles endocriniens les plus courants au UTH étaient le rachitisme (45%), le diabète (15%), les troubles thyroïdiens (15%) et les troubles de la puberté (12,5%). Il y avaitune augmentation annuelle régulière du nombre de cas endocriniens pédiatriques observés. Trente-quatre (85%) des patients sont vivants et se portent très bien, 5 (12,5%) ont été perdus de vue et 1 mortalité (2,5%) a été enregistrée. CONCLUSION: le rachitisme, le diabète, les troubles thyroïdiens et les troubles de la puberté sont les quatre principaux troubles endocriniens pédiatriques observés au UTH. L'attrition est un défi notable dans les troubles endocriniens pédiatriques. Les raisons de l'attrition et les moyens de mettre fin à ce défi doivent être identifiés et mis en pratique. MOTS CLÉS: Pédiatrie, troubles endocriniens, sensibilisation, rachitisme, diabète, Nigéria.
Subject(s)
Hospitals, Teaching , Referral and Consultation , Ambulatory Care Facilities , Child , Child, Preschool , Female , Humans , Male , Nigeria/epidemiology , Retrospective StudiesABSTRACT
The MIS pathway is a potential therapeutic target in epithelial ovarian cancer (EOC): signaling requires both type II (T2R) and type I receptors (T1R), and results in growth inhibition. MISR2 is expressed in EOC, but the prevalence and relative contributions of candidate T1R remain unknown. We sought to: a) determine expression of T1R in EOC; b) assess impact of T1R expression with clinical outcomes; c) verify MIS-dependent Smad signaling and growth inhibition in primary EOC cell cultures. Tissue microarrays (TMA) were developed for analysis of T1Rs (ALK2/3/6) and MISR2 expression. Primary cell cultures were initiated from ascites harvested at surgery which were used to characterize response to MIS. TMA's from 311 primary cancers demonstrated the most common receptor combinations were: MISR2+/ALK2+3+6+ (36%); MISR2+/ALK2+3+6- (34%); MISR2-/ALK2+3+6- (18%); and MISR2-/ALK2+3+6+ (6.8%). No differences in overall survival (OS) were noted between combinations. The ALK6 receptor was least often expressed T1R and was associated with lower OS in early stage disease only (p =0.03). Most primary cell cultures expressed MISR2 (14/22 (63.6%)): 95% of these express ALK 2 and ALK3, whereas 54.5% expressed ALK6. MIS-dependent Smad phosphorylation was seen in the majority of cultures (75%). Treatment with MIS led to reduced cell viability at an average of 71% (range: 57-87%) in primary cultures. MIS signaling is dependent upon the presence of both MISR2 and specific T1R. In the majority of EOC, the T1R required for MIS-dependent signaling are present and such cells demonstrate appropriate response to MIS.
Subject(s)
Activin Receptors, Type I/genetics , Anti-Mullerian Hormone/pharmacology , Gene Expression Regulation, Neoplastic , Neoplasms, Glandular and Epithelial/genetics , Ovarian Neoplasms/genetics , Protein Isoforms/genetics , Receptors, Peptide/genetics , Receptors, Transforming Growth Factor beta/genetics , Smad Proteins/genetics , Activin Receptors, Type I/metabolism , Adult , Aged , Aged, 80 and over , Carcinoma, Ovarian Epithelial , Female , Humans , Middle Aged , Neoplasm Grading , Neoplasm Staging , Neoplasms, Glandular and Epithelial/metabolism , Neoplasms, Glandular and Epithelial/mortality , Neoplasms, Glandular and Epithelial/pathology , Ovarian Neoplasms/metabolism , Ovarian Neoplasms/mortality , Ovarian Neoplasms/pathology , Ovary/metabolism , Ovary/pathology , Primary Cell Culture , Protein Isoforms/metabolism , Receptors, Peptide/metabolism , Receptors, Transforming Growth Factor beta/metabolism , Signal Transduction , Smad Proteins/metabolism , Survival Analysis , Tissue Array Analysis , Tumor Cells, CulturedABSTRACT
Primary human herpesvirus 6 (HHV-6) and 7 (HHV-7) infections were identified in febrile children by qualitative and quantitative polymerase chain reaction (PCR) assays. Diagnosis was based on the differential detection of viral DNA in peripheral blood mononuclear cells (PBMC), but not in saliva. Six of 41 febrile infants, but none of seven non-febrile controls, were identified with primary infections (three HHV-6, three HHV-7). These children had significantly higher viral loads in PBMC (HHV-6, median 24213 genomes/10(6) PBMC; HHV-7, median 6,040,000 genomes/10(6) PBMC) than DNA-aemic, saliva PCR positive children (HHV-6, median 1606 genomes/10(6) PBMC, p < 0.01; HHV-7, median 7089 genomes/ 10(6) PBMC, p < 0.05). Viral DNA was detected in serum by PCR in only 50% of primary infections. All three children with primary HHV-7 infection had febrile convulsions. Thus PCR, including quantitative assays, may identify primary HHV-6 and HHV-7 infections when an appropriate combination of clinical specimens is used.
