1,721,014 research outputs found
ANALISI DELLA STRUTTURA E DELL'EVOLUZIONE DEI CONSUMI "PERSONALI" DELLE FAMIGLIE ITALIANE
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Implicating factors in the increase in cases of central precocious puberty (CPP) during the COVID-19 pandemic: Experience of a tertiary centre of pediatric endocrinology and review of the literature
Full text linkSexual development is a complex mechanism activated by the hypothalamic-pituitary-gonadal axis. Over the last one hundred years there has been a decline in the age at puberty onset in industrialised countries. Some Italian studies showed an increase in diagnoses of Central Precocious Puberty (CPP) during the COVID-19 pandemic. It is thus supposed that in this period there was an increased impact of factors that can influence pubertal development. Our retrospective monocentric study aimed to confirm the existence of this phenomenon and analysed possible related factors. We retrospectively evaluated clinical, laboratory, radiological and ultrasound (US) data of 154 girls referred to our Tertiary Centre of Paediatric Endocrinology from January 2019 to April 2021 for different forms of Precocious Puberty. We subdivided the cases into subgroups according to the final diagnosis: CPP, Early Puberty (EP), isolated thelarche and isolated pubarche. The observation period was subdivided into: Period 1, before lockdown (1 January 2019 – 8 March 2020) and Period 2, lockdown and the following months (9 March 2020 – 30 April 2021). Period 2 was further divided into “restrictive lockdown period” (Period 2.1) (March 2020 – 14 June 2020, in which the schools were closed) and “less restrictive lockdown period” (Period 2.2) (15 June 2020 – 30 April 2021). We analysed data regarding the use of electronic devices before and during lockdown in a group of girls with CPP diagnosed in Period 2 and we compared the data with that of a control group. Our data show an increase in the number of new diagnoses of CPP during lockdown and in the following months, compared with the previous period. We also detected a higher use of PCs and smartphones in girls with CPP diagnosed in Period 2, compared with the control group. The percentage of the presence of endometrial rhyme detected during the pelvic ultrasound was higher in girls with CPP in Period 2, compared with the previous period. Based on our data we assume there was an environmental effect on pubertal timing that calls our attention to factors such as food, use of electronic devices and stress. We will need further studies to better understand this data
Transient central precocious puberty: a new entity among the spectrum of precocious puberty?
No full textObjective: Recently, we observed some cases of Precocious Puberty (PP) with a partial central activation of
hypothalamic-pituitary-gonadal (HPG) axis that tended to normalized in 6–12 months. To evaluate the frequency of
this form within the spectrum of forms of PP, we retrospectively assessed the clinical, hormonal and ultrasound
characteristics of patients attending to our Center for signs of PP, between 2007 and 2017. To hypothesize some
causes of this “pubertal poussée” a questionnaire about environmental data was provided to patients.
Methods: 96 girls were recruited for the study and divided into three Groups. Group 1: 56 subjects with Central PP
(CPP) requiring treatment with GnRH analogue; Group 2: 22 subjects with transient activation of pubertal axis, that
tended to normalize, “Transient CPP”(T-CPP); Group 3: 18 subjects with Isolated Thelarche (IT).
Results: Mean age at diagnosis was 6.8 ± 1.0 years in Group 1, 5.9 ± 1.3 years in Group 2 and 5.6 ± 1.5 years in
Group 3. A significant increase of diagnosis of T-CPP was observed over the study period. Significantly higher use of
some homeopathic medicines and potential exposure to pesticides was reported in Group 2 vs Group 1.
Conclusions: To our knowledge, we first reported a form defined as T-CPP, characterized by partial activation in
the HPG axis normalizing over time. An increased use of homeopathic medicines and exposure to environmental
pollutants in these patients was evidenced.
Keywords: Central precocious puberty, Endocrine disruptors, Thelarche, Transient precocious puberty, Nutritional
factors, Herbicides and pesticide
Glucose dynamics in glycogen storage disease type IXa with novel PHKA2 variants: insights from our experience and a comprehensive review of the disease spectrum
No full textBackground: Glycogen storage disease type IXa (GSD IXa), caused by phosphorylase kinase mutations, primarily PHKA2, presents variably from mild hepatomegaly to severe liver dysfunction or isolated ketotic hypoglycemia. Its phenotypic overlap with other metabolic disorders complicates diagnosis, requiring genetic confirmation. Methods: We retrospectively analyzed clinical, biochemical, genetic, and radiological data from patients affected by GSD IXa diagnosed at our regional metabolic disease center in Bologna (Emilia-Romagna, Italy) over recent decades and we reviewed the relevant scientific literature on the pathology. Results: We report three patients with recurrent symptomatic ketotic hypoglycemia affected by PHKA2 variants of uncertain significance (VUS) and review the literature concerning GSD IXa. Conclusion: GSD IXa should be considered in the differential diagnosis even when persistent ketotic hypoglycemia is the sole presenting feature, underscoring the critical importance of clinical suspicion in such cases. Improved genetic testing has refined diagnosis, even in milder cases without hepatomegaly, while dietary management with uncooked cornstarch (CS) and extended-release cornstarch (ER-CS) effectively prevents complications and maintains good glycemic control
Rapidly Progressive Renal and Hepatic Failure in AL-Amyloidosis: Bortezomib and Steroid Support in a Young Woman Two Months After Delivery
No full textINTRODUCTION: The epidemiology of amyloidosis is not well known and its diagnosis is difficult, due to unspecific early clinical manifestations. Amyloidosis is considered when organ failure occurs. Renal, cardiac and hepatic involvement usually occurred despite therapy. Presenting this case report, we aimed to underline the need of new treatments for amyloidosis.
MATERIALS AND METHODS: We describe a 41 years old woman admitted to the hospital with proteinuria (1280 mg/24h) and rapid deterioration of renal function (serum creatinine from 0.8 to 1.6 mg/dL). Autoantibodies, immunoglobulin and C3/C4 were negative. A renal biopsy showed the presence of AL-Amyloidosis with k-light chains deposition at immunofluorence. Subsequently, the patient showed nephrotic syndrome onset (proteinuria 4000 mg/24h with albuminuria 3400 mg/24h) and increased rates of cholestasis with hepatomegaly and hepatic failure.
RESULTS: Treatment with bortezomib and dexamethasone gave a complete hematological response but renal function was not improved.
DISCUSSION: This case is very interesting because renal involvement was the initial presentation of amyloidosis and rapid progressive renal and hepatic failure was subsequentely observed; its management was challenging from the clinical approach to the final diagnosis and treatment.
CONCLUSIONS: In terms of organ response, it is necessary to develop new strategies to counteract the progressive organ failure due to amyloid deposition
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