Background: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. Methods: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1•5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. Findings: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24•0 months (IQR 12•0-60•0, range 0•0-744•0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35•0 years (95% CI 8•3-61•7). Individuals who did not attain head control by age 1•5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3•46, 95% CI 1•76-8•34; log-rank test p=0•0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who were of normal bodyweight at this age (HR 4•71, 95% CI 1•26-17•58, p=0•021). The few motor and cognitive abilities of patients did not improve with age, as evidenced by the absence of significant correlations between biological age and scores on the Gross Motor Function Measure-88 and Bayley Scales of Infant Development III. Tri-iodothyronine concentrations were above the age-specific upper limit in 96 (95%) of 101 patients and free thyroxine concentrations were below the age-specific lower limit in 94 (89%) of 106 patients. 59 (71%) of 83 patients were underweight. 25 (53%) of 47 patients had elevated systolic blood pressure above the 90th percentile, 34 (76%) of 45 patients had premature atrial contractions, and 20 (31%) of 64 had resting tachycardia. The most consistent MRI finding was a global delay in myelination, which occurred in 13 (100%) of 13 patients. Interpretation: Our description of characteristics of MCT8 deficiency in a large patient cohort reveals poor survival with a high prevalence of treatable underlying risk factors, and provides ...

Context Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction. Objective Our previous trial showed improvement of key clinical and biochemical features during 1-year treatment with the T3 analogue Triac, but long-term follow-up data are needed. Methods In this real-life retrospective cohort study, we investigated the efficacy of Triac in MCT8-deficient patients in 33 sites. The primary endpoint was change in serum T3 concentrations from baseline to last available measurement. Secondary endpoints were changes in other thyroid parameters, anthropometric parameters, heart rate, and biochemical markers of thyroid hormone action. Results From October 15, 2014 to January 1, 2021, 67 patients (median baseline age 4.6 years; range, 0.5-66) were treated up to 6 years (median 2.2 years; range, 0.2-6.2). Mean T3 concentrations decreased from 4.58 (SD 1.11) to 1.66 (0.69) nmol/L (mean decrease 2.92 nmol/L; 95% CI, 2.61-3.23; P &lt; 0.0001; target 1.4-2.5 nmol/L). Body-weight-for-age exceeded that of untreated historical controls (mean difference 0.72 SD; 95% CI, 0.36-1.09; P = 0.0002). Heart-rate-for-age decreased (mean difference 0.64 SD; 95% CI, 0.29-0.98; P = 0.0005). SHBG concentrations decreased from 245 (99) to 209 (92) nmol/L (mean decrease 36 nmol/L; 95% CI, 16-57; P = 0.0008). Mean creatinine concentrations increased from 32 (11) to 39 (13) µmol/L (mean increase 7 µmol/L; 95% CI, 6-9; P &lt; 0.0001). Mean creatine kinase concentrations did not significantly change. No drug-related severe adverse events were reported. Conclusions Key features were sustainably alleviated in patients with MCT8 deficiency across all ages, highlighting the real-life potential of Triac for MCT8 deficiency.

Congenital teratoma is a rare condition and is a germ cell tumor composed of elements from one or more of the embryonic germ layers and contain tissues usually foreign to the anatomic site of origin. We report a case of a neck tumor diagnosed during pregnancy, initially thought to be a goiter. After birth the neck mass kept growing until it compressed the trachea and produced respiratory failure. The infant had a difficult tracheal intubation because of the compressing mass. The staff decided to surgically remove the neck mass. After that, the infant became eupneic. The histological analysis showed a mature teratoma with no atypias.

Congenital teratoma is a rare condition and is a germ cell tumor composed of elements from one or more of the embryonic germ layers and contain tissues usually foreign to the anatomic site of origin. We report a case of a neck tumor diagnosed during pregnancy, initially thought to be a goiter. After birth the neck mass kept growing until it compressed the trachea and produced respiratory failure. The infant had a difficult tracheal intubation because of the compressing mass. The staff decided to surgically remove the neck mass. After that, the infant became eupneic. The histological analysis showed a mature teratoma with no atypias.

O autor relata a sua experiência de oito anos (2013-2021) a frente da gestão médica do pronto-socorro do Sabará Hospital Infantil, São Paulo SP, maior serviço privado de urgência pediátrica do país. O gestor, neste período, enfrentou excessiva demanda de atendimento com insatisfação de pacientes, dificuldades para gerir equipes desmotivadas por pobre modelo de atendimento e de remuneração. Foram formuladas ações, em um planejamento de cinco anos, baseadas na: a) integração pelo conhecimento não técnico, ensinando ao profissional como o mercado o valoriza; b) predileção pela qualidade em grupo: simbolizada pela conquista da acreditação Joint Commission InternationaI; c) atratividade competitiva: equiparação de honorários com mercado e remuneração por mérito; e d) desenvolvimento de novo conceito de produtividade médica com o comprometimento do profissional com a eficiência operacional. As ações levaram ao aumento na velocidade de atendimento da equipe entre 15% e 25%, dependendo do mês. Houve um salto de honorários na ordem de 15% a 100% dependendo da faixa. Foi possível reduzir o desperdício de horas médicas da escala em 7,4%. O engajamento relacionado a protocolos clínicos se estabeleceu, e a equipe contava com 60% mais pediatras. No quinquênio que se seguiu, dificuldades colocaram à prova os valores desenvolvidos pela equipe, sendo a principal relacionada à pandemia do covid-19, com a redução abrupta do volume de atendimento. Como resposta houve redução de horas de escala em 45%, com garantia de honorários médicos mensais mínimo de 65% e desligamento de apenas 10% dos profissionais. Ao fim do quinquênio foram criados projetos de melhorias que hoje diferenciam a instituição, tais como: a) Supervia (2019) – protocolo para atendimento de casos menos urgentes que permite alta logo após a triagem, reduzindo o tempo de espera do paciente; b) Telemedicina (2020) – além das consultas de urgência, utilizada também na reavaliação de pacientes; c) Short stay (2021) – espaço destinado a internações de baixa complexidade com previsão de duração inferior a 48 horas, observada uma lista de vinte diagnósticos selecionados.Palavras-chave: Organização e administração de serviços de saúde; Remuneração médica, Carga de trabalho; Pediatria; Pandemia de covid-19 Sharing the experience of medical management in the largest private pediatric emergency service in the country ABSTRACTThe author reports his experience of eight years (2013-2021) in front of the medical management of the emergency room at Sabará Hospital Infantil, São Paulo SP, the largest private pediatric emergency service in the country. The manager, in this period, faced excessive demand for care with patient dissatisfaction, difficulties to manage teams unmotivated by a poor service and remuneration model. Actions were formulated in a five-year plan based on: a) integration through non-technical knowledge, teaching the professional how the market values it; b) predilection for group quality: symbolized by the achievement of Joint Commission International accreditation; c) competitive attractiveness: matching fees with the market and merit pay; and d) development of a new concept of medical productivity with the professional's commitment to operational efficiency. The actions led to an increase in the team's service speed between 15% and 25%, depending on the month. There was a jump in fees in the order of 15% to 100% depending on the range. It was possible to reduce the waste of medical hours on the scale by 7.4%. Engagement related to clinical protocols was established, and the team had 60% more pediatricians. In the five years that followed, difficulties put to the test the values developed by the team, the main one being related to the covid-19 pandemic, with the abrupt reduction in the volume of care. In response, there was a 45% reduction in hours of work, with a minimum monthly medical fee of 65% guaranteed and dismissal of only 10% of professionals. At the end of the five-year period, improvement projects were created that today differentiate the institution, such as: a) Supervia (2019) - protocol for the treatment of less urgent cases that allows discharge immediately after the screening, reducing the patient's waiting time; b) Telemedicine (2020) - in addition to emergency consultations, also used to reassess patients; c) Short stay (2021) - space destined to hospitalizations of low complexity with a prediction of less than 48 hours, observing a list of twenty selected diagnoses.  Keywords: Organization and administration of health services; Medical fees; Workload; Pediatrics; Covid-19 pandemic