Pseudohypoparathyroidism, an often delayed diagnosis: a case series

Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by parathyroid hormone (PTH) resistance. Pseudohypoparathyroidism is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities (type Ia, Ib, Ic, type II). We report cases of four children (aged 8 to 13 years) in the winter season 2007-'08. The present work highlights the variable mode of presentation of pseudohypoparathyroidism and the difficulty of an early diagnosis. We stress the importance of a complete biochemical investigation of the calcium-phosphate metabolism to recognize typical biochemical alterations associated with this condition (hypocalcaemia, hyperphosphataemia with increased phosphate tubular reabsorption and elevated PTH levels) in spite of a phenotypic aspect that often lacks the presence of all the peculiar clinical features of Albright hereditary osteodistrophy

Despertar

Anais do 35º Seminário de Extensão Universitária da Região Sul - Área temática: EducaçãoO Programa Despertar tem como objetivo principal fomentar o empreendedorismo no IFRS Campus Restinga, o que será realizado através de projetos e ações que contribuam para o desenvolvimento interpessoal, reforçando as competências empreendedoras, assim como aproximação com o mundo do trabalho. O programa está estruturado em quatro linhas principais de ação: (1) desenvolvimento de competências empreendedoras, (2) experiências práticas (aprender fazendo), (3) aproximação com o mundo do trabalho, (4) inovação nos processos de ensino-aprendizagem, gerando conhecimento sobre a abordagem da temática do empreendedorismo e sua integração na formação dos alunos e relação com a comunidade. As ações vinculadas ao programa têm caráter transversal e podem ter forma de projeto, evento, curso de capacitação ou visita técnica e podem ser realizadas em parceria com Junior Achievement (JARS), SEBRAE e voluntários com atuação na gestão de instituições ou projetos, que podem ser empresariais ou socioambientais. A JARS, associação presente em mais de 100 países, fornece metodologia, capacitação e acompanhamento para diferentes projetos (como por exemplo, o Miniempresa). Já o SEBRAE promove anualmente ações na área de empreendedorismo, como cursos e formações específicas, além da Feira do Empreendedor, realizada a cada dois anos. O Programa de extensão está articulado com ações de ensino, ao dialogar com os componentes curriculares e possibilitar a participação dos docentes na proposição de iniciativas. Também se articula com a pesquisa, a partir das reflexões oriundas da análise das atividades, que deve embasar iniciativas de pesquisa ou em sinergia com projetos existente

Fingerprints of the urban particle number size distribution in Helsinki, Finland : Local versus regional characteristics

Peer reviewe

Opioid receptor signaling, analgesic and side effects induced by a computationally designed pH-dependent agonist

Novel pain killers without adverse effects are urgently needed. Opioids induce central and intestinal side effects such as respiratory depression, sedation, addiction, and constipation. We have recently shown that a newly designed agonist with a reduced acid dissociation constant (pK(a)) abolished pain by selectively activating peripheral mu-opioid receptors (MOR) in inflamed (acidic) tissues without eliciting side effects. Here, we extended this concept in that pK(a) reduction to 7.22 was achieved by placing a fluorine atom at the ethylidene bridge in the parental molecule fentanyl. The new compound (FF3) showed pH-sensitive MOR affinity, [S-35]-GTP gamma S binding, and G protein dissociation by fluorescence resonance energy transfer. It produced injury-restricted analgesia in rat models of inflammatory, postoperative, abdominal, and neuropathic pain. At high dosages, FF3 induced sedation, motor disturbance, reward, constipation, and respiratory depression. These results support our hypothesis that a ligand's pK(a) should be close to the pH of injured tissue to obtain analgesia without side effects

Newborn of mothers affected by autoimmune thyroiditis: the importance of thyroid function monitoring in the first months of life

<p>Abstract</p> <p>Background</p> <p>evaluation of thyroid function in neonates born from mothers affected by autoimmune thyroiditis in order to define if a precise follow-up is necessary for these children. The influence of maternal thyroid peroxidase antibody (TPOAb) and L-thyroxine therapy during pregnancy on neonatal thyroid function was also investigated.</p> <p>Methods</p> <p>129 neonates were tested for thyroid function by measurement of free thyroxine (FT4) and thyroid stimulating hormone (TSH) in 3^thday, 15^thday and at one month of life. TPOAb were measured in all patients; periodical control of thyroid function were performed until 6 months of life if Ab were positive. Data concerning etiology of maternal hypothyroidism and maternal replacement therapy with L-thyroxine during pregnancy were retrospectively collected.</p> <p>Results</p> <p>28% neonates showed at least a mild increase of TSH value at the different determinations. In the majority of them, a spontaneous completely normalisation of TSH value was observed within the first month life. L-thyroxine replacement therapy was started in 3 neonates. TPOAb titer and maternal L-thyroxine replacement therapy were not related to alteration of thyroid hormone function in our study population.</p> <p>Conclusions</p> <p>transient mild elevation of serum TSH above the normal reference value for age is frequently observed in the first month of life in infants born from mothers affected by autoimmune thyroiditis. Persistent hyperthyrotropinemia requiring replacement therapy is observed in 2.2% of these neonates. According to our experience, follow-up is recommended in these newborns; the most accurate and not invasive way to carefully monitor these infants after neonatal screening for CH seems to be serum-testing TSH between 2^ndand 4^thweek of life.</p

Final height in Italian patients with congenital hypothyroidism detected by neonatal screening: A 20-year observational study

Background: Linear growth and final height are reported as normal in congenital hypothyroid patients in the neonatal screening era. Methods: We evaluated the final height in 215 patients with congenital hypothyroidism to assess if it improved over the last 2 decades. Results: Final height (-0.1∈±∈1.0 SDS) was higher than target height (-0.8∈±∈1.0 SDS, p∈<∈0.001) and not different among the 4 quartiles for birthdate. It was correlated with target height (r2∈=∈0.564, p∈<∈0.001) and height at puberty onset (r2∈=∈0.685, p∈<∈0.001), but not with age at diagnosis or the starting LT4/kg/day dose. The curve fitting analysis showed that the age at diagnosis progressively decreased during the 20-year study period, while the target height and the starting LT4/kg/day increased. Final height was not affected by the birthdate, the age at diagnosis, the starting LT4 dose. Conclusions: The final height is higher than the target height, but despite the improvement in the screening and the treatment, it did not improve over the last 20 years. These findings are in keeping with the described secular trend and suggest that earlier diagnosis and replacement therapy do not significantly modify final height in these patient

Two-dimensional electron gas at the (001) surface of ferromagnetic EuTiO3

Studies on oxide quasi-two-dimensional electron gas (q2DEG) have been a playground for the discovery of novel and sometimes unexpected phenomena, like the reported magnetism at the surface of SrTiO3 (001) and at the interface between nonmagnetic LaAlO3 and SrTiO3 band insulators. However, magnetism in this system is weak and there is evidence of a nonintrinsic origin. Here, by using in situ high-resolution angle-resolved photoemission, we demonstrate that ferromagnetic EuTiO3, the magnetic counterpart of SrTiO3 in the bulk, hosts a q2DEG at its (001) surface. This is confirmed by density functional theory calculations with Hubbard U terms in the presence of oxygen divacancies in various configurations, all of them leading to a spin-polarized q2DEG related to the ferromagnetic order of Eu-4f magnetic moments. The results suggest EuTiO3(001) as a new material platform for oxide q2DEGs, characterized by broken inversion and time-reversal symmetries

Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice

Objective: To provide Italian expert opinion-based practical recommendations to improve the cooperation between clinicians and geneticists in order to optimize diagnostic flow and care of X-linked hypophosphatemia (XLH). Methods: A panel of four geneticists and four clinicians from Italian reference centers for the diagnosis and management of XLH met virtually, first to highlight the critical issues in patient care and then to identify and share proposals to improve the diagnostic and care path of XLH. Results: Critical issues emerged regarding the transfer of adequate clinical information from clinicians to geneticists, standardization and clarity of genetic reporting, and adequate interactions between clinicians and geneticists during patients' follow-up. The necessary requirements for an appropriate request for evaluation of genetic variants and the need for a clear and clinically useful genetic report were agreed upon. Specifically designed template forms to be adopted with appropriate adjustments were defined and are here proposed for both the clinician's request and the geneticist's report. Conclusions: The expert group strongly believes that collaboration between clinicians and geneticists should be encouraged in XLH, not only in the diagnostic phase but also during a patient's follow-up, in order to manage patients more comprehensively and effectively