Online Compassion Focused Therapy for overeating: Feasibility and acceptability pilot study.

OBJECTIVE: This pilot study aims to investigate the feasibility, acceptability, and potential effectiveness of online Compassion Focused Therapy for overeating (CFT-OE). METHOD: Eighteen Portuguese women seeking treatment for overeating were enrolled in this study, and 15 participants completed the CFT-OE. This was a single-arm study. Participants were assessed at pre- and post-intervention and 3-month follow-up. All participants completed measures assessing binge eating, cognitive restraint, uncontrolled eating, emotional eating, general eating psychopathology, general and body shame, self-criticism, self-compassion, and fears of self-compassion. RESULTS: The treatment attrition rate was 16.7%, which is relatively low compared to other similar online interventions. Participants gave positive feedback on the program and indicated they would recommend it to people with similar difficulties. CFT-OE improved self-compassion and reduced eating psychopathology symptoms, general and body shame, self-criticism, and fears of self-compassion. Clinical significance analysis showed that the majority of participants were classified as in recovery in all measures at post-intervention and 3-month follow-up. DISCUSSION: Preliminary results suggest that the online CFT-OE program is an acceptable and feasible intervention. Results also suggest that CFT-OE is beneficial for the treatment of women with difficulties with overeating. A future randomized controlled trial is necessary to establish the effectiveness of the CFT-OE. PUBLIC SIGNIFICANCE: This study indicates that online CFT-OE is a feasible and adequate intervention for women who struggle with overeating. This therapy showed promising results in reducing eating disorder symptoms, shame, and self-criticism and improving self-compassion. As an online intervention, CFT-OE may be more accessible and offer an alternative to in-person therapy.

From Bariatric Surgery to Conception: The Ideal Timing to Optimize Fetal Weight.

PURPOSE: Bariatric surgery (BS) increases the risk of small for gestational age (SGA) neonates. Guidelines recommend postponing pregnancy for 12-24 months, but optimal surgery-to-conception interval (BSCI) remains uncertain. We aimed to evaluate the impact of BSCI on birth weight and SGA. MATERIALS AND METHODS: Retrospective cohort study of 42 pregnancies following BS, including Roux-en-Y gastric bypass, gastric sleeve, adjustable gastric banding and biliopancreatic diversion. Neonates were classified as SGA if birth weight < 10th percentile. Optimal BSCI was obtained from the analysis of ROC curves, and pregnancies were compared by that cut-off. RESULTS: There was a linear association between BSCI and birth weight and an inverse association with SGA, with each additional month of BSCI translating into additional 4.5 g (95%CI: 2.0-7.0) on birth weight and -6% risk of SGA (95%CI: 0.90-0.99). We established a cut-off of 24.5 months of BSCI for lower risk of SGA. Pregnancies conceived in the first 24 months had a more than tenfold increased risk of SGA (OR 12.6, 95%CI: 2.4-66.0), even when adjusted for maternal age, gestational diabetes and inadequate gestational weight gain. CONCLUSION: BSCI was associated with birth weight and SGA. Our results are in line with the recommendations of BSCI of at least 24 months to reduce the risk of SGA.

Association Between Follicle-Stimulating Hormone Receptor (FSHR) rs6166 and Estrogen Receptor 1 (ESR1) rs2234693 Polymorphisms and Polycystic Ovary Syndrome Risk, Phenotype, and Reproductive Outcomes in an Infertile Portuguese Population.

INTRODUCTION: Polycystic ovary syndrome (PCOS) is a common endocrine disorder often leading to anovulatory infertility. PCOS pathophysiology is still unclear and several potential genetic susceptibility factors have been proposed. The effect of polymorphisms in two genesrelated to follicular recruitment and development, the follicle-stimulating hormone receptor (FSHR) and the estrogen receptor 1 (ESR1), have been studied in different populations with contradictory results. AIMS: To evaluate the influence of FSHR rs6166 (c.2039A>G) and of ESR1 rs2234693 (Pvull c.453-397 T > C) polymorphisms on PCOS risk, phenotype, and response to controlled ovarian stimulation (COS). MATERIALS AND METHODS: Genotyping of the FSHR rs6166 and the ESR1 rs2234693 polymorphisms was performed in PCOS women and a control group undergoing in vitro fertilization (IVF). Demographic, clinical, and biochemical data, genotype frequency, and IVF outcomes were compared between groups. RESULTS: We evaluated 88 PCOS women and 80 controls. There was no significant difference in the genotype distribution of FSHR rs6166 polymorphism between PCOS women and controls (AA 31.8%/AS 48.9%/SS 19.3% in PCOS women vs AA 37.5%/AS 40.0%/SS 22.5% in controls; p = 0.522). The same was true for the ESR1 rs2234693 (CC 24.1%/CT 46.0%/TT 29.9% in PCOS women vs CC 18.8%/CT 48.8%/TT 32.5% in controls; p = 0.697). In PCOS women, we found higher follicle-stimulating hormone (FSH) levels on the third day of the menstrual cycle associated with the SS variant of the FSHR polymorphism (9.2 vs 6.2 ± 1.6 and 5.6 ± 1.6 mUI/mL; p = 0.011). We did not find other associations between the baseline hormonal parameters, antral follicle count, and response measures to COS with FSHR or ESR1 genotypes. We found, however, a need for higher cumulative doses of FSH for COS in patients with the SS variant of the FSHR rs6166 polymorphism (1860.5 ± 627.8 IU for SSvs 1498.1 ± 359.3 for AA and 1425.4 ± 474.8 for SA; p = 0.046 and p = 0.046). CONCLUSION: Our data suggest that in the population, FSHR rs6166and ESR1 rs2234693 polymorphisms do not influence the risk of developing PCOS nor do they influence the patient's phenotype and IVF success. However, the SS variant of the FSHR rs6166 polymorphism may be associated with FSH resistance requiring higher FSH doses for COS.

A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period.

Summary: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency due to T-box transcription factor-19 (TBX19 mutation) (MIM 201400; ORPHA 199296) usually presents in the neonatal period with severe hypoglycemia, seizures, and sometimes prolonged cholestatic jaundice. We report a case with an unusual presentation that delayed the diagnosis. A 9-month-old female patient with no relevant personal history was admitted to the emergency department due to a hypoglycemic seizure in the context of acute gastroenteritis. There was rapid recovery after glucose administration. At age 4, she presented with tonic-clonic seizures, fever, and gastrointestinal symptoms and came to need support in an intensive care unit. Low serum cortisol was documented and hydrocortisone was initiated. After normalization of inflammatory parameters, the patient was discharged with hydrocortisone. The genetic investigation was requested and compound heterozygous mutations in TBX19 were detected. This is a rare case of presentation of TBX19 mutation outside the neonatal period and in the setting of acute disease, which presented a diagnostic challenge. Learning points: Congenital isolated adrenocorticotrophic hormone deficiency due to TBX19 mutation usually presents with neonatal hypoglycemia and prolonged cholestatic jaundice. An uneventful neonatal period, however, does not exclude the diagnosis as the disease may be asymptomatic at this stage. In the context of idiopathic hypoglycemia, even in the context of acute disease, hypocortisolism must always be excluded. Genetic evaluation should be performed in cases of congenital central hypocortisolism to allow proper counselling.

Turner syndrome and neurofibromatosis type 1: the unusual combination of two common genetic disorders.

Summary: The coexistence of neurofibromatosis type 1 (NFT1) and Turner syndrome (TS) has only been reported in a few patients and may represent a diagnostic challenge. We describe the case of a 16-year-old girl, with a prior clinical diagnosis of NFT1, who was referred to Endocrinology appointments for the etiological study of primary amenorrhea. Evaluation of the anterior pituitary function was requested and hypergonadotropic hypogonadism was detected. During the etiological study, a 45X karyotype was found and TS was diagnosed. The fact that NFT1 can also be associated with short stature, short broad neck and hypertelorism was likely responsible for TS being diagnosed in late adolescence. As both TS and NFT1 are relatively common genetic disorders, it is important to be alert to the possibility that the presence of one disease does not invalidate the other. Learning points: The concomitant presence of two syndromes in the same patient is unlikely and represents a diagnostic challenge. Some phenotypic characteristics and clinical manifestations may be shared by several syndromes. Some syndromes, such as neurofibromatosis type 1 may have very heterogeneous presentations. It is important to be alert to the characteristics that are not explained by the initial diagnosis. If such features are present, diagnostic work-up must be performed regardless of the initial syndromic diagnosis.

The Mysterious Universe of the TSH Receptor.

The thyroid-stimulating hormone receptor (TSH-R) is predominantly expressed in the basolateral membrane of thyrocytes, where it stimulates almost every aspect of their metabolism. Several extrathyroidal locations of the receptor have been found including: the pituitary, the hypothalamus, and other areas of the central nervous system; the periorbital tissue; the skin; the kidney; the adrenal; the liver; the immune system cells; blood cells and vascular tissues; the adipose tissue; the cardiac and skeletal muscles, and the bone. Although the functionality of the receptor has been demonstrated in most of these tissues, its physiological importance is still a matter of debate. A contribution to several pathological processes is evident in some cases, as is the case of Grave's disease in its multiple presentations. Conversely, in the context of other thyroid abnormalities, the contribution of the TSH-R and its ligand is still a matter of debate. This article reviews the several different sites of expression of the TSH-R and its potential role in both physiological and pathological processes.

Hypoglycemia unawareness in type 1 diabetes patients using intermittent continuous glucose monitoring: Identification of risk factors and glycemic patterns.

BACKGROUND: Hypoglycemia unawareness designates failure to detect eminent hypoglycemia. Clarke's questionnaire is one of the most used systems to evaluate this problem. AIMS: To relate Clarke's questionnaire (QQ) results with continuous glucose monitoring data. METHODS: Application of the questionnaire in a sample of type 1 diabetes mellitus (T1DM) patients using intermittent continuous glucose monitoring (iCGM). RESULTS: 111 T1DM patients were evaluated, 56.8% female, mean age 35.0 ± 12.4 years and mean disease duration 18.8 ± 10.5 years. According to CQ, 13.5% had unawareness, 76.6% awareness and 9.9% indeterminate awareness to hypoglycemia. Those with unawareness had longer disease duration (25.1 ± 10.4 vs 18.2 ± 10.3 for awareness and 14.9 ± 9.9 for indeterminate awareness, p = 0.047), more time below range (10.3 ± 4.9% vs 6.3 ± 5.1 and 6.3 ± 4.8; p = 0.009) and higher mean duration of hypoglycemia (131.7 ± 38.6 vs 116.6 ± 49.6 and 131.7 ± 38.6; p = 0.008). In multivariate analysis, mean duration of hypoglycemia was an independent predictor of CQ results. In a receiver operating curve (AUC 0.746; p = 0.004) a mean duration of hypoglycemia ≥106.5 min showed 84.6% sensitivity/64.4% specificity for unawareness. CONCLUSIONS: Our sample had a significative prevalence of hypoglycemia unawareness which increased with longer diabetes duration. iCGM data can be indicative of this problem, with a mean hypoglycemia duration ≥106.5 min being suggestive, albeit unspecific.

Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus.

Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by renal unresponsiveness to the hormone vasopressin, leading to excretion of large volumes of diluted urine. Mutations in the arginine vasopressin receptor-2 (AVPR2) gene cause congenital NDI and have an X-linked recessive inheritance. The disorder affects almost exclusively male family members, but female carriers occasionally present partial phenotypes due to skewed inactivation of the X-chromosome. Here, we report a rare case of a woman affected with X-linked recessive NDI, presenting an average urinary output of 12 L/day. Clinical and biochemical studies showed incomplete responses to water deprivation and vasopressin stimulation tests. Genetic analyses revealed a novel heterozygous missense mutation (c.493G > C, p.Ala165Pro) in the AVPR2 gene. Using a combination of in-silico protein modeling with human cellular models and molecular phenotyping, we provide functional evidence for phenotypic effects. The mutation destabilizes the helical structure of the AVPR2 transmembrane domains and disrupts its plasma membrane localization and downstream intracellular signaling pathways upon activation with its agonist vasopressin. These defects lead to deficient aquaporin 2 (AQP2) membrane translocation, explaining the inability to concentrate urine in this patient.

Vitamin D and Autoimmune Thyroid Disease-Cause, Consequence, or a Vicious Cycle?

Vitamin D is a steroid hormone traditionally connected to phosphocalcium metabolism. The discovery of pleiotropic expression of its receptor and of the enzymes involved in its metabolism has led to the exploration of the other roles of this vitamin. The influence of vitamin D on autoimmune disease-namely, on autoimmune thyroid disease-has been widely studied. Most of the existing data support a relationship between vitamin D deficiency and a greater tendency for development and/or higher titers of antibodies linked to Hashimoto's thyroiditis, Graves' disease, and/or postpartum thyroiditis. However, there have also been some reports contradicting such relationships, thus making it difficult to establish a unanimous conclusion. Even if the existence of an association between vitamin D and autoimmune thyroid disease is assumed, it is still unclear whether it reflects a pathological mechanism, a causal relationship, or a consequence of the autoimmune process. The relationship between vitamin D's polymorphisms and this group of diseases has also been the subject of study, often with divergent results. This text presents a review of the recent literature on the relationship between vitamin D and autoimmune thyroid disease, providing an analysis of the likely involved mechanisms. Our thesis is that, due to its immunoregulatory role, vitamin D plays a minor role in conjunction with myriad other factors. In some cases, a vicious cycle is generated, thus contributing to the deficiency and aggravating the autoimmune process.

Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case-Control Association Study.

Vitamin D has immunomodulatory effects, and its deficiency has been implicated in the autoimmune process of type 1 diabetes. Serum vitamin D levels are influenced by variants in genes involved in the synthesis, transport, hydroxylation and degradation of vitamin D. The aim of this study was to assess if single nucleotide polymorphisms (SNPs) at the DHCR7 (rs12785878), GC (rs2282679), CYP2R1 (rs2060793) and CYP24A1 (rs6013897) loci are associated with type 1 diabetes in the Portuguese population. Genotype and allele frequencies were determined in 350 cases of type 1 diabetes and in 490 controls. The frequency of each SNP alone was not significantly different between patients and controls. However, the combined analysis of the four SNPs showed that minor alleles of these variants clustered more frequently in patients. The proportion of individuals with three or more minor alleles was significantly higher in patients than in controls (56.3% vs. 48.5; odds ratio (OR) 1.37; 95% confidence interval (CI) 1.04-1.81; p-value 0.027). These results suggest a cumulative effect of SNPs at the DHCR7, GC, CYP2R1 and CYP24A1 loci on the susceptibility to type 1 diabetes, due to the roles of these genes in the vitamin D metabolic pathway.

[Endocrinology in Portugal - Census 2016. Board of the Portuguese College of Endocrinology and Nutrition of the Portuguese Medical Association]. / A Endocrinologia em Portugal - Censo 2016. Direção do Colégio de Endocrinologia e Nutrição da Ordem dos Médicos.

INTRODUCTION: On September 2016, the Board of the College of Endocrinology and Nutrition of the Portuguese Medical Association carried out a national survey, about all Endocrinology, Diabetes and Metabolism Departments of the public hospitals included in the Portuguese National Health Service and a simplified version of this survey was sent to all endocrinologists working in Portugal and registered with the Portuguese Medical Association. MATERIAL AND METHODS: Data related to organizational and human resources were collected, reporting the situation by the end of year 2015. The census registered 107 individuals and 27 Departments. RESULTS: The ratio of endocrinologists-population was 1.4, much lower than in the other European countries (varies between 2 to 4), resulting in alarming shortages of services in some areas of Portugal and in worse quality indicators. DISCUSSION: These data suggest that actions should be taken to increase the number of endocrinologists and departments in the country. CONCLUSION: In recent years, the number of residents has significantly increased, which will make it possible to correct this situation.

Introdução: A Direção do Colégio de Endocrinologia e Nutrição da Ordem dos Médicos realizou um inquérito nacional em setembro de 2016, a todos os serviços de Endocrinologia, Diabetes e Metabolismo dos hospitais do Serviço Nacional de Saúde e uma versão simplificada do mesmo foi enviada a todos os endocrinologistas a trabalhar em Portugal e inscritos no colégio. Material e Métodos: O censo inclui dados organizacionais e de recursos humanos relativos ao fim do ano de 2015. Registou 107 respostas individuais e 27 serviços. Resultados: O ratio de endocrinologistas por 100 000 habitantes era de 1,4, muito inferior a outros países europeus (varia de 2 a 4), que resulta numa carência grave de serviços em algumas zonas do País e em piores indicadores de qualidade. Discussão: Estes dados indicam que devem ser implementadas medidas para aumentar o número de endocrinologistas e serviços em Portugal. Conclusão: Nos últimos anos, o número de internos tem vindo a aumentar, o que vai permitir melhorar esta situação.

Laparoscopic adrenalectomy as an effective approach to massive bilateral pheochromocytomas.

Pheochromocytomas are catecholamine-secreting neoplasms, arising from adrenomedullary chromaffin cells. In type 2 multiple endocrine neoplasia (MEN2) syndrome, pheochromocytomas are usually benign but with predisposition to be bilateral (50%-80% of cases).The authors present the case of a young patient diagnosed with uncommonly large bilateral cystic pheochromocytomas and simultaneous detection of medullary thyroid carcinoma. Molecular testing confirmed germline RET codon C634 mutation, consistent with MEN2A syndrome. The patient underwent bilateral laparoscopic adrenalectomy plus total thyroidectomy with central lymph node dissection without associated complications. The histopathological study of the surgical specimens revealed bilateral benign pheochromocytomas (Ki67 of 2%) and a medullary carcinoma of the thyroid T1bN0M0; R0, respectively. One year after surgery, the patient was considered free of disease.This case demonstrates that bilateral laparoscopic adrenalectomy can be a safe and feasible approach for phechromocytomas in MEN2 syndrome, even in lesions with large diameter. However, due to elevated possibility of recurrence, patients should maintain lifelong follow-up.

Short- and long-term mortality after bariatric surgery: A systematic review and meta-analysis.

AIMS: The objective of this study was to investigate short- (≤ 30 days) and long-term (≥ 2 years) all-cause mortality after bariatric surgery among adult patients with obesity. MATERIALS AND METHODS: For short-term mortality, eligible studies comprised randomized controlled trials (RCTs) reporting perioperative mortality. For long-term mortality, eligible studies comprised RCTs and observational studies comparing mortality between obese patients after bariatric surgery and non-operated controls. Random-effects models using a Bayesian or frequentist approach were used to pool effect estimates of short- and long-term mortality, respectively. RESULTS: Short-term all-cause mortality based on 38 RCTs involving 4030 patients was 0.18% (95% CI, 0.04%-0.38%) and was higher for open surgeries (0.31%; 95% CI, 0.03%-0.97%) and similar in mixed surgeries (0.17%; 95% CI, 0.03%-0.43%) and restrictive surgeries (0.17%; 95% CI, 0.03%-0.45%). For long-term mortality, 12 observational studies involving 27 258 operated patients and 97 154 non-operated obese controls were included. Of these, 8 studies were eligible for the meta-analysis, which showed a reduction of 41% in all-cause mortality (hazard ratio, 0.59; 95% CI, 0.52-0.67; P < .001). Additionally, operated patients were 0.42 times as likely (95% CI, 0.25-0.72, P < .001) and 0.47 times as likely (95% CI, 0.36-0.63, P < .001) as non-operated obese controls to die from cardiovascular diseases and cancer, respectively. CONCLUSIONS: Bariatric surgery is associated with low short-term mortality and may be associated with long-term reductions in all-cause, cardiovascular and cancer-related mortality.

Controversies in the management of hyperglycaemic emergencies in adults with diabetes.

Hyperglycaemic emergencies are associated with significant morbi-mortality and healthcare costs. Management consists on fluid replacement, insulin therapy, and electrolyte correction. However, some areas of patient management remain debatable. In patients without respiratory failure or haemodynamic instability, arterial and venous pH and bicarbonate measurements are comparable. Fluid choice varies upon replenishment phase and patient's condition. If patient is severely hypovolaemic, normal saline solution should be the first option. However, if patient has mild/moderate dehydration, fluid choice must take in consideration sodium concentration. Insulin therapy should be guided by ß-hydroxybutyrate normalization and not by blood glucose. Variations of conventional insulin infusion protocols emerged recently. Priming dose of insulin may not be required, and fixed rate insulin infusion represents the best option to suppress hepatic glucose production, ketogenesis, and lipolysis. Concomitant administration of basal insulin analogues with regular insulin infusion accelerates ketoacidosis resolution and prevents rebound hyperglycaemia. Simpler protocols using subcutaneous rapid-acting insulin analogues for mild/moderate diabetic ketoacidosis treatment have proven to be safe and effective, but further studies are required to confirm these results. Treatment with bicarbonate, phosphate, and low-molecular-weight heparin is still disputable, and randomized controlled trials are urgently needed to optimize patient management and decrease the morbi-mortality of hyperglycaemic emergencies.

MR fat fraction mapping: a simple biomarker for liver steatosis quantification in nonalcoholic fatty liver disease patients.

RATIONALE AND OBJECTIVES: To assess the performance, postprocessing time, and intra- and interobserver agreement of a simple magnetic resonance-based mapping technique to quantify liver fat. MATERIALS AND METHODS: This prospective, single-center study included 26 patients who were overweight with type 2 diabetes and at risk for nonalcoholic fatty liver disease. Mapping of the liver was based on a triple echo gradient-echo sequence, and (1)H magnetic resonance spectroscopy was used as the reference standard. The nonparametric Spearman correlation coefficient and the Wilcoxon test were used for comparisons between mapping and spectroscopy. The mapping was assessed for its predictive performance using the area under the curve of a receiver operating characteristic curve. Intraclass correlation coefficients were used to calculate intra- and interobserver's agreement for mapping measurements. RESULTS: Patients had a mean fat percentage of 11.7% (range, 2-35.4%). A strong correlation was seen between mapping and spectroscopy (r = 0.89, P < .0001). A cutoff of 6.9% for fat fraction mapping was found to diagnose steatosis with 93% sensitivity and 100% specificity with an area under the curve of 0.99. Mapping of the liver had shorter acquisition and post-processing times than spectroscopy (5 min vs. 38 min; P < .0001). Mapping measurements had an intra- and interobserver agreement of 0.98 and 0.99, respectively. CONCLUSIONS: The magnetic resonance-based liver mapping can accurately quantify liver fat with a cutoff value of 6.9% and excellent intra- and interobserver agreement. This mapping technique, with its simple methodology and short postprocessing time, has the potential to be included in routine abdominal protocols.

Persistent primary hyperparathyroidism: an uncommon location for an ectopic gland--case report and review.

Primary hyperparathyroidism (PHPT) is a common endocrine disorder that mainly affects middle-aged women. Patients are usually asymptomatic. The disease might be ascribable to hyperplasia, carcinoma, and single or multiple adenomas. PHPT may be sporadic or familial, the latter comprising multiple endocrine neoplasia type 1 or 2A, familial benign hypocalciuria hypercalcemia, and hyperparathyroidism-jaw tumor syndrome. The most common causes for persistent PHPT are multiglandular disease, and missed abnormal ectopic or orthotopic parathyroid glands. Imaging localization studies should precede a new surgical intervention. Ectopic parathyroid glands are rarely located at the aortopulmonary window. For diagnosis confirmation, (99m)Tc-sestamibi SPECT/CT seems to be an advantageous test. Another possibility is to perform (99m)Tc-sestamibi followed by thoracic CT or MRI. Parathyroidectomy may be performed by means of median sternotomy, thoracotomy, or video-assisted thoracoscopy. We describe a case of persistent primary hyperparathyroidism due to the presence of an ectopic parathyroid gland found at the aortopulmonary window. As the investigation necessary to clarify the etiology of recurrent nephrolithiasis proceeded, the diagnosis of PHPT was determined. The patient underwent subtotal parathyroidectomy; nevertheless, PHPT persisted. Genetic syndromes that could account for this condition were excluded. Imaging studies available at that time were not able to locate abnormal glands; moreover, the patient refused to undergo surgical exploration. Later, the patient underwent (99m)Tc-sestamibi SPECT/CT, which revealed a parathyroid gland at the aortopulmonary window.

Persistent primary hyperparathyroidism: an uncommon location for an ectopic gland - Case report and review / Hiperparatiroidismo primário persistente: glândula ectópica em localização rara - Caso clínico e revisão

Primary hyperparathyroidism (PHPT) is a common endocrine disorder that mainly affects middle-aged women. Patients are usually asymptomatic. The disease might be ascribable to hyperplasia, carcinoma, and single or multiple adenomas. PHPT may be sporadic or familial, the latter comprising multiple endocrine neoplasia type 1 or 2A, familial benign hypocalciuria hypercalcemia, and hyperparathyroidism-jaw tumor syndrome. The most common causes for persistent PHPT are multiglandular disease, and missed abnormal ectopic or orthotopic parathyroid glands. Imaging localization studies should precede a new surgical intervention. Ectopic parathyroid glands are rarely located at the aortopulmonary window. For diagnosis confirmation, 99mTc-sestamibi SPECT/CT seems to be an advantageous test. Another possibility is to perform 99mTc-sestamibi followed by thoracic CT or MRI. Parathyroidectomy may be performed by means of median sternotomy, thoracotomy, or video-assisted thoracoscopy. We describe a case of persistent primary hyperparathyroidism due to the presence of an ectopic parathyroid gland found at the aortopulmonary window. As the investigation necessary to clarify the etiology of recurrent nephrolithiasis proceeded, the diagnosis of PHPT was determined. The patient underwent subtotal parathyroidectomy; nevertheless, PHPT persisted. Genetic syndromes that could account for this condition were excluded. Imaging studies available at that time were not able to locate abnormal glands; moreover, the patient refused to undergo surgical exploration. Later, the patient underwent 99mTc-sestamibi SPECT/CT, which revealed a parathyroid gland at the aortopulmonary window.

O hiperparatiroidismo primário (HPP) é uma endocrinopatia frequente que afeta maioritariamente mulheres de meia-idade e é geralmente assintomática. A doença pode ser atribuível a hiperplasia, carcinoma, adenomas únicos ou múltiplos. O HPP inclui formas esporádicas e familiares. As formas familiares englobam neoplasia endócrina múltipla tipo 1 ou 2A, hipercalcemia hipocalciúrica familiar e síndrome hiperparatiroidismo/tumor mandibular-maxilar. As causas mais frequentes de HPP persistente são a presença de doença multiglandular ou de paratiroide anômala ectópica ou ortotópica não identificada previamente. É recomendável que a localização imagiológica preceda a reintervenção cirúrgica. A janela aortopulmonar é uma localização ectópica rara, sendo o 99mTc-sestamibi SPECT/TC um exame de confirmação vantajoso ou, alternativamente o 99mTc-sestamibi seguido de TC ou RM torácica. A paratiroidectomia pode ser efetuada por meio de esternotomia mediana, toracotomia ou toracoscopia videoassistida. Descrevemos um caso de HPP persistente atribuível à presença de uma glândula paratiroide ectópica localizada à janela aortopulmonar. O diagnóstico de HPP foi estabelecido na sequência da investigação requisitada para esclarecimento etiológico da nefrolitíase recidivante constatada nessa doente. Foi submetida à paratiroidectomia subtotal; não obstante, o HPP persistiu. Excluíram-se síndromes genéticas que pudessem justificar esse quadro clínico. Os exames imagiológicos disponíveis (à época) revelaram-se infrutíferos na detecção de paratiroides anômalas; adicionalmente, a doente recusou exploração cirúrgica. Posteriormente, a doente foi submetida a 99mTc-sestamibi SPECT/TC, que revelou a presença de uma paratiroide na janela aortopulmonar.

[Eating disorders and type 1 diabetes: about 4 clinical reports]. / Doenças do comportamento alimentar e diabetes mellitus tipo 1.

Type 1 Diabetes mellitus is a chronic disease, often diagnosed in youth and associated with important psychological, familial and social disorders. Its intensive treatment with insulin and dietary changes is an extra stress factor in a stage of life already complicated. This vulnerability, coupled with low self-esteem and psychological factors typical of the youth, makes eating disorders twice as common in young girls with type 1 diabetes. The omission of insulin is the sole purging behavior used to lose weight, culminating in a poor glycemic control and increased acute and chronic complications. The treatment seeks to achieve specific objectives, depending on the associated psychiatric pathology. Because of its frequency, the clinician should be alert to early manifestations of this association. We present four clinical cases of young people with type 1 diabetes and eating disorders, which show the complexity of the approach and monitoring of these patients.