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1.
Front Endocrinol (Lausanne) ; 15: 1288497, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38495788

RESUMO

Introduction: It has been proposed that not all children with short stature displaying an inadequate response to tests for growth hormone (GH) secretion truly suffer from GH deficiency (GHD). Only children with a monogenic cause of GHD or an identifiable combined hormonal deficiency or anatomical anomaly in the hypothalamic-pituitary axis should be considered definite GHD (dGHD). The remaining patients can be defined as a separate group of patients, "short stature unresponsive to stimulation tests" (SUS). The aim of this proof-of-concept study, was to assess whether SUS patients treated with rhGH exhibit any differences compared to GHD patients undergoing the same treatment. Methods: Retrospective analysis on 153 consecutive patients with short stature and pathological response to two GH stimulation tests. Patients with dGHD were defined as those with a clear genetic or anatomical hypothalamic-pituitary anomaly, as well as those with combined pituitary hormone deficiencies and those with a known insult to the hypothalamic-pituitary axis (i.e. total brain irradiation) (n=38, 25%); those without any of the previous anomalies were defined as SUS (n=115, 75%). Results: At diagnosis, dGHD and SUS populations did not differ significantly in sex (F 32% vs 28%, p=0.68), age (11.9 vs 12.1, p=0.45), height SDS at diagnosis (-2.2 vs. -2.0, p=0.35) and prevalence of short stature (height <-2 SDS) (56% vs 51%, p=0.45). IGF-1 SDS were significantly lower in dGHD (-2.0 vs -1.3, p<0.01). After 1 year of treatment, the prevalence of short stature was significantly reduced in both groups (31% in dGHD vs. 21% in SUS, p<0.01) without any significant differences between groups (p=0.19), while the increase in IGF-1 SDS for bone age was greater in the dGHD category (+1.9 vs. +1.5, p<0.01), with no further difference in IGF-1 SDS between groups. At the last available follow-up, 59 patients had reached the near adult height (NAH) and underwent retesting for GHD. No differences in NAH were found (-0.3 vs. -0.4 SDS, 0% vs. 4% of short stature). The prevalence of pathological retesting was higher in dGHD (60% vs. 10%, p<0.01) as well as of overweight and obesity (67% vs. 26%). Conclusion: Stimulation tests and the equivalent benefit from rhGH therapy, cannot distinguish between dGHD and SUS populations. In addition, lower IGF-1 concentrations at baseline and their higher increase during treatment in dGHD patients, and the lack of pathological retesting upon reaching NAH in SUS patients, are facts that suggest that deficient GH secretion may not be the cause of short stature in the SUS studied population.


Assuntos
Nanismo Hipofisário , Hormônio do Crescimento Humano , Criança , Adulto , Humanos , Fator de Crescimento Insulin-Like I , Estudos Retrospectivos , Nanismo Hipofisário/diagnóstico , Nanismo Hipofisário/tratamento farmacológico , Hormônio do Crescimento Humano/uso terapêutico , Hormônio do Crescimento
3.
Front Pediatr ; 10: 1044170, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36533226

RESUMO

Background: Fatigue is a common, nonspecific complaint commonly used to describe various conditions, ranging from a vague, subjective sense of weariness to muscular weakness, fatigability, exercise intolerance or excessive daytime somnolence. Despite its high frequency in the general population, literature addressing the approach to the child with fatigue from a general pediatrician perspective is poor. We herein propose a review of the available evidence on the topic, providing a practical framework to assist physicians in dealing with the issue. Methods: Data were identified by searches of MEDLINE, UpToDate, Google Scholar and references from relevant articles. Articles published between 1990 and 2021 were considered, prioritizing systematic reviews and meta-analyses. Then, an empirically-based model of approaching the tired child was proposed according to our center experience. Results: To correctly characterize the meaning of fatigue reporting, specific clues from history and physical examination should be emphasized. Duration, severity, and the age at onset are to be considered. Then, specific queries about everyday activities, sleep hygiene and social domain could be useful in reaching a specific diagnosis and offering an appropriate treatment. Conclusions: We suggest a pragmatic approach to fatigue in children based on age assessment, targeted questions, physical examination clues, and some laboratory first-level tests. This could provide pediatricians with a useful tool to discriminate the broad etiology of such a complaint, disentangling between psychological and organic causes. Further studies are needed to investigate the predictive value, specificity and sensitivity of this diagnostic workflow in managing the child with fatigue.

4.
Children (Basel) ; 9(3)2022 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-35327750

RESUMO

OBJECTIVES: The aim of this paper is to describe a case series of paediatric patients affected by anastomotic ulcers (AU), a late complication of bowel resection in infancy, focusing on the treatment of iron-deficiency anaemia (IDA) with ferric carboxymaltose (FC). METHODS: Patients with a diagnosis of AU, treated at the Paediatric Department of the Institute for Maternal and Child Health IRCCS "Burlo Garofolo" from February 2012 to December 2020 were included. Haemoglobin (Hb) values, IDA related symptoms, the need for blood transfusions, for oral or intravenous (iv) iron supplementation and for surgical resections were compared before and after treatment with FC. Adverse effects of FC were recorded. RESULTS: Ten patients with an established diagnosis of AU were identified; eight (8 out of 10) received at least one administration of FC. Lower and higher Hb values increased significantly after treatment (4.9 g/dL vs. 8.2 g/dL, p = 0.0003; 9.9 g/dL vs. 13.5 g/dL, p = 0.0008 respectively), with a significant reduction of the need for blood transfusions (p = 0.0051) and for oral and iv iron supplementation. While receiving standard therapies, seven patients (7 out of 8) complained of asthenia; this symptom resolved in all cases after FC administration. Before FC treatment, two patients (2 out of 8) required surgical resection of AU, with a recurrence of anaemia after a few weeks; after at least one FC infusion, no children needed further bowel resection for IDA. FC caused mild asymptomatic hypophosphatemia in one case. CONCLUSION: FC appears to be effective and safe in the paediatric population for the treatment of IDA resulting from AU.

5.
Case Rep Ophthalmol ; 8(1): 99-103, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28413407

RESUMO

PURPOSE: To report the first case of ophthalmia due to contact with cobra venom in the Volta Region, Ghana. METHODS: An ointment containing vitamin A was applied to treat the patient's unilateral defects in the corneal epithelium and the consequent diminished visual acuity. RESULTS: Healing of the corneal epithelium and improvement of visual acuity were observed after only 1 day. CONCLUSIONS: This case suggests that consequences of cases of cobra venom spitting in the eyes can be minimal if immediate treatment is provided.

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