Addisonin tautia sairastava potilas päivystyksessä

Vertaisarvioitu. Näin hoidan.Addisonin taudilla tarkoitetaan lisämunuaisten kuorikerroksen primaarista vajaatoimintaa. Sen hoitona käytetään gluko- ja mineralokortikoideja fysiologisina korvausannoksina. Stressitilanteessa, kuten akuutin sairauden yhteydessä, glukokortikoiditarve lisääntyy ja potilaita ohjeistetaan itse 2-3-kertaistamaan ylläpitoannos. Addisonin tautia sairastavan potilaan glukokortikoiditarpeen lisääntymisen nopea tunnistaminen päivystyspoliklinikassa on tärkeää. Liian vähäinen gluko- ja mineralokortikoidien saanti suhteessa niiden tarpeeseen voi johtaa hengenvaaralliseen Addisonin kriisiin. Sen laukaisee yleensä infektio tai muu stressitilanne. Kriisin tunnistaminen sekä nopea glukokortikoidi- ja nesteytyshoito ovat elintärkeitä. Potilailla tulisi olla SOS-passi, josta käyvät ilmi sairaus- ja lääkitystiedot

Etiology of severe short stature below-3 SDS in a screened Finnish population

Objective: To describe the etiology of severe short stature in the Helsinki University Hospital district covering a population of 1.2 million that is subject to frequent growth monitoring and screening rules during childhood. Design: Retrospective cohort study. Design: Retrospective cohort study. Methods: We identified all subjects born 1990 or later with a height SD score Results: A pathological cause for short stature was diagnosed in 76% of the girls and 71% of the boys (P= NS). Syndromes were the most numerous pathological cause (n = 160; 20%), followed by organ disorders (n = 127; 16%), growth hormone deficiency (GHD, n = 94; 12%), SGA without catch-up growth (n = 73; 9%), and skeletal dysplasias (n = 57; 7%). Idiopathic short stature (ISS) was diagnosed in 210 (27%) subjects. The probability of growth-related pathology, particularly of a syndrome or skeletal dysplasia, increased with the shorter height SD score and the greater deviation from the target height. Sitting height to height SDS was increased in subjects with ISS, GHD, and SGA (all P <0.01). Conclusions: HeightPeer reviewe

Precocious Puberty or Premature Thelarche : analysis of a large Patient series in a single Tertiary center with special emphasis on 6-to 8-Year-Old girls

Introduction: We describe the etiology, MRI findings, and growth patterns in girls who had presented with signs of precocious puberty (PP), i.e., premature breast development or early menarche. Special attention was paid to the diagnostic findings in 6- to 8-year-olds. Materials and methods: We reviewed the medical records of 149 girls (aged 0.710.3 years) who had been evaluated for PP in the Helsinki University Hospital between 2001 and 2014. Results: In 6- to 8-year-old girls, PP was most frequently caused by idiopathic gonadotropin-releasing hormone (GnRH)-dependent PP (60%) and premature thelarche (PT; 39%). The former subgroup grew faster (8.7 +/- 2.0 cm/year, n = 58) than the girls with PT (7.0 +/- 1.1 cm/year, n = 32) (P <0.001), and the best discrimination for GnRH-dependent PP was achieved with a growth velocity cut-off value of 7.0 cm/year (sensitivity 92% and specificity 58%) [area under the curve 0.82, 95% confidence interval (CI) 0.730.91, P <0.001]. Among asymptomatic and previously healthy 6- to 8-year-old girls with GnRH-dependent PP, one (1.7%, 95% CI 0.39.7%) had a pathological brain MRI finding requiring surgical intervention (craniopharyngioma). In girls younger than 3 years, the most frequent cause of breast development was PT, and, in 3- to 6-year-olds, GnRH-dependent PP. Conclusion: In 6- to 8-year-old girls, analysis of growth velocity is helpful in differentiating between PT and GnRH-dependent PP. Although the frequency of clinically relevant intracranial findings in previously healthy, asymptomatic 6- to 8-year-old girls was low, they can present without any signs or symptoms, which favors routine MRI imaging also in this age group.Peer reviewe

Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: genetics, management and updates

Delayed puberty (DP) affects approximately 2% of adolescents. In the vast majority of patients in both sexes, it is due to constitutional delay of growth and puberty (CDGP), a self-limited condition in which puberty starts later than usual but progresses normally. However, some CDGP patients may benefit from medical intervention with low-dose sex steroids or peroral aromatase inhibitor letrozole (only for boys). Other causes of DP include permanent hypogonadotropic hypogonadism, functional hypogonadotropic hypogonadism (due to chronic diseases and conditions), and gonadal failure. In this review we discuss these themes along with the latest achievements in the field of puberty research, and include a brief synopsis on the differential diagnosis and management of patients with CDGP and congenital hypogonadotropic hypogonadism.Peer reviewe

Neonataalihypertyreoosi

English summaryPeer reviewe

The effects of indigenous microorganisms and water treatment with ion exchange resin on Cu-Ni flotation performance

Mineral processing utilizes large amounts of water and aims to reduce water consumption by recirculation and closing the water loops. This results in accumulation of chemical and biological contaminants in process water that may have adverse outcomes on the process performance. To optimize water quality suitable for each process step and plant, knowledge of both chemical and biological effects are needed as well as techniques to best remove the contaminants. This study focused on the consequences of microorganisms, enriched from the actual process earlier, on the flotation performance in the multi-metal Kevitsa mine in Northern Finland and the applicability of ion exchange for the removal of dissolved sulfur species and microorganisms from water. The increase of microbial load from the original 106 to added 107 16S rRNA copies mL−1 affected positively the flotation selectivity, especially in the case of nickel. Two tested water types, process water (PW) and final tailings water (FT), behaved slightly differently. In the Cu flotation phase added microorganisms did not affect the Cu recovery of FT but decreased significantly the recovery of Cu in PW. With equal Cu grade, the recovery was as high as approximately 25 percentage points lower. However, added microorganisms in both water types decreased notably the recovery of Ni in Cu concentrate (18 to 37 %-points). At the same time the amount of Ni recovered in the Ni concentrate increased by 18 to 33 %-points with added microorganisms. Visually the froth layer was higher and more stable in the Ni flotation in experiments with added microorganisms compared to experiments without added microorganisms. The concentrations of dissolved sulfate and thiosulfate ions were low in the studied waters compared to operations treating massive sulfide ores and did not significantly affect the flotation performance. For this reason, the IX water treatment was not required for these ions. However, the IX treatment proved to be effective in removing both sulfur species and microorganisms. The use of dissolved air flotation (DAF) was a successful pretreatment for ion exchange in removal of microorganisms. However, microorganisms are not usually taken into consideration when process performance or water cleaning techniques are designed and optimization could result generally in even better outcome

Onset and progression of puberty in Klinefelter syndrome

Objective: Klinefelter syndrome (KS) (47,XXY and variants, KS) is the most common sex chromosome disorder in humans. However, little is known about the onset and progression of puberty in patients with KS. In this study, we describe the onset and progression of puberty in a large series of boys with KS in a single tertiary centre. Design and Patients: Retrospective data (Tanner stages, testicular length, testosterone supplementation, levels of luteinizing hormone [LH] and testosterone) before possible testosterone treatment on 72 KS patients with 47,XXY karyotype were reviewed, and G (n = 59 patients) and P (n = 56 patients) stages were plotted on puberty nomograms. Measurements and Results: One boy had a delayed onset of puberty, as he was at the G1 stage at the age of 13.8 years (-2.2 SDs). No observations of delay were made of boys at Stage G2. The progression of G stages was within normal limits in the majority of patients; only few boys were late at G3 (4.1%; 1 out of 24) and G4 (7.4%; 2 out of 27). Testosterone supplementation was started at the average age of 15.5 years to 35 boys (47%), 2 of whom were over 18 years old. LH level was on average 18.2 IU/L (SD: 6.3 IU/L) and testosterone 9.1 nmol/L (SD: 3.1 nmol/L) when testosterone supplementation was started. Conclusions: Our results suggest that puberty starts within the normal age limits in boys with KS, and testosterone supplementation is not needed for the initial pubertal progression in the majority of patients.Peer reviewe

The aetiology of extreme tall stature in a screened Finnish paediatric population

Publisher Copyright: © 2021 The AuthorsBackground: Extremely tall children (defined as height SDS (HSDS) ≥+3) are frequently referred to specialized healthcare for diagnostic work-up. However, no systematic studies focusing on such children currently exist. We investigated the aetiology, clinical features, and auxological clues indicative of syndromic tall stature in extremely tall children subject to population-wide growth monitoring and screening rules. Methods: Subjects with HSDS ≥+3 after three years of age born between 1990 and 2010 were identified from the Helsinki University Hospital district growth database. We comprehensively reviewed their medical records up to December 2020 and recorded underlying diagnoses, auxological data, and clinical features. Findings: We identified 424 subjects (214 girls and 210 boys) who fulfilled the inclusion criteria. Underlying growth disorder was diagnosed in 61 (14%) patients, in 36 (17%) girls and 25 (12%) boys, respectively (P=0•15). Secondary causes were diagnosed in 42 (10%) patients and the two most frequent secondary diagnoses, premature adrenarche, and central precocious puberty were more frequent in girls. Primary disorder, mainly Marfan or Sotos syndrome, was diagnosed in 19 (4%) patients. Molecular genetic studies were used as a part of diagnostic work-up in 120 subjects. However, array CGH or next-generation sequencing studies were seldom used. Idiopathic tall stature (ITS) was diagnosed in 363 (86%) subjects, and it was considered familial in two-thirds. Dysmorphic features or a neurodevelopmental disorder were recorded in 104 (29%) children with ITS. The probability of a monogenic primary growth disorder increased with the degree of tall stature and deviation from target height. Interpretation: A considerable proportion of extremely tall children have an underlying primary or secondary growth disorder, and their risk is associated with auxological parameters. Clinical features related to syndromic tall stature were surprisingly frequent in subjects with ITS, supporting the view that syndromic growth disorders with mild phenotypes may be underdiagnosed in extremely tall children. Our results lend support to comprehensive diagnostic work-up of extremely tall children. Funding: Päivikki and Sakari Sohlberg Foundation, Foundation for Pediatric Research, and Helsinki University Hospital research grants.Peer reviewe