Prognostic factors in childhood vitiligo.

BACKGROUND: Vitiligo is a multifactorial disease characterized by the progressive loss of melanocytes. The worldwide prevalence ranges from 0.5% to 2%, and in children from 0% to 2.16%. The objective of this study was to determine the variables associated with progression of vitiligo. METHODS: A retrospective cohort was carried out where a random sample of records of pediatric patients with vitiligo from January 2016 to December 2020 was analyzed. The variables were studied: age at onset, sex, hereditary family history, personal history of thyroid diseases, time of evolution, classification, Köebner phenomena, mucosal vitiligo, halo nevus, premature graying and the presence of other dermatoses. The final state was classified as progression, stability, partial remission and complete remission. RESULTS: 574 children with vitiligo; 290 (50.5%) women, 284 (49.5%) men. Non-segmental vitiligo in 324 (56.4%), segmental vitiligo in 250 (43.6%). Mean age of onset 8.7 years (SD: 4.54). Median evolution time 6 months (25th percentile of 3 months and 75th percentile of 24 months). Family history 27 (4.70%). Thyroid disease 7 (1.21%). Evolution remained stable in 44 (7.7%), 68 (11.8%) had progression, 32 (5.6%) complete remission, 222 (38.7%) partial remission and 208 (36.2%) one consultation. Non-segmental vitiligo was obtained p < 0.028, younger age of onset p < 0.000, and none skin comorbidities p < 0.009. CONCLUSIONS: The variables that were associated with a more progression were non-segmental vitiligo, early ages at the onset of the disease, and not presenting with other skin diseases.

INTRODUCCIÓN: El vitiligo es una enfermedad multifactorial caracterizada por la pérdida de melanocitos. La prevalencia mundial oscila entre el 0.5% y el 2%, y en niños entre el 0% y el 2.16%. El objetivo de este estudio fue determinar las características clínicas asociadas a la progresión del vitiligo. MÉTODOS: En una cohorte retrospectiva se analizó una muestra aleatoria de expedientes de pacientes con vitiligo de 0-18 años de edad, de enero de 2016 a diciembre de 2020. Se estudiaron la edad de inicio, el sexo, los antecedentes heredofamiliares, el antecedente personal de enfermedades tiroideas, el tiempo de evolución, la clasificación, el fenómeno de Köebner, el vitiligo en mucosas, el halo nevo, el encanecimiento prematuro y la relación con otras dermatosis. El estado final se clasificó en progresión, estabilidad, remisión parcial y remisión completa. RESULTADOS: 574 niños con vitiligo; 290 (50.5%) mujeres y 284 (49.5%) varones. Vitiligo no segmentario en 324 (56.4%), vitiligo segmentario en 250 (43.6%). Edad promedio de aparición 8.7 años (DE: 4.54). Mediana de tiempo de evolución 6 meses (percentil 25 de 3 meses y percentil 75 de 24 meses). Se encontraron antecedentes familiares en 27 (4.70%). Enfermedad tiroidea en 7 (1.21%). En la evolución permanecieron estables 44 (7.7%), progresaron 68 (11.8%), remisión completa 32 (5.6%), remisión parcial 222 (38.7%) y una consulta 208 (36.2%). Se obtuvo p < 0.028 en vitiligo no segmentario, p < 0.000 en menor edad de aparición y p < 0.009 en comorbilidad cutánea. CONCLUSIONES: Las variables que se asociaron a progresión fueron vitiligo no segmentario, edad temprana de inicio y no cursar con otras enfermedades cutáneas.

Frequency of Thyroid Microcarcinoma in Patients Who Underwent Total Thyroidectomy with Benign Indication-A 5-Year Retrospective Review.

Background and Objectives: Incidental thyroid cancers (ITCs) are often microcarcinomas. The most frequent histologic type is a papillary microcarcinoma. Papillary thyroid microcarcinomas are defined as papillary thyroid tumours measuring less than 10 mm at their greatest diameter. They are clinically occult and frequently diagnosed incidentally in histopathology reports after a thyroidectomy. The aim of this study is to evaluate the rate of papillary thyroid microcarcinomas (PTMC) in patients who were thyroidectomised with indications of benign disease. Materials and Methods: We retrospectively evaluated the histological incidence of PTMC in 431 consecutive patients who, in a 5 year period, underwent a thyroidectomy with benign indications. Patients with benign histology and with known or suspected malignancy were excluded. Results: Histopathology reports from 540 patients who underwent a total thyroidectomy in our department between 2016 and 2021 were reviewed. A total of 431 patients were thyroidectomised for presumed benign thyroid disease. A total of 395 patients had confirmed benign thyroid disease in the final histopathology, while 36 patients had incidental malignant lesions (33 PTMC-7.67%, one multifocal PTC without microcarcinomas-0.23%, two follicular thyroid carcinoma-0.46%). Out of the PTMC patients, 29 were female and four were male (7.2:1 female-male ratio). The mean age was 54.2 years old. A total of 24 out of 33 patients had multifocal lesions, 11 of which co-existed with macro PTC. Nine patients had unifocal lesions. A total of 21 of these patients were initially operated on for multinodular goitre (64%), while 13 were operated on for Hashimoto/Lymphocytic thyroiditis (36%). Conclusions: PTMC-often multifocal-is not an uncommon, incidental finding after thyroidectomy for benign thyroid lesions (7.67% in our series) and often co-exists with other incidental malignant lesions (8.35% in our series). The possibility of an underlying papillary microcarcinoma should be taken into account in the management of patients with benign-especially nodular-thyroid disease, and total thyroidectomy should be considered.

Understanding the Relationship between Nonalcoholic Fatty Liver Disease and Thyroid Disease.

The prevalence of hypothyroidism in patients with nonalcoholic fatty liver disease (NAFLD) is high (22.4%). Thyroid hormones (THs) regulate many metabolic activities in the liver by promoting the export and oxidation of lipids, as well as de novo lipogenesis. They also control hepatic insulin sensitivity and suppress hepatic gluconeogenesis. Because of its importance in lipid and carbohydrate metabolism, the involvement of thyroid dysfunction in the pathogenesis of NAFLD seems plausible. The mechanisms implicated in this relationship include high thyroid-stimulating hormone (TSH) levels, low TH levels, and chronic inflammation. The activity of the TH receptor (THR)-ß in response to THs is essential in the pathogenesis of hypothyroidism-induced NAFLD. Therefore, an orally active selective liver THR-ß agonist, Resmetirom (MGL-3196), was developed, and has been shown to reduce liver fat content, and as a secondary end point, to improve nonalcoholic steatohepatitis. The treatment of NAFLD with THR-ß agonists seems quite promising, and other agonists are currently under development and investigation. This review aims to shine a light on the pathophysiological and epidemiological evidence regarding this relationship and the effect that treatment with THs and selective liver THR-ß agonists have on hepatic lipid metabolism.

Primary hydatid cyst of the thyroid glands: two case reports and a review of the literature.

INTRODUCTION: Although hydatid cyst remains one of the prevalent parasitic infections in humans, hydatid cyst of the thyroid is extremely rare, even in endemic areas. Here we present two cases of thyroid hydatid cysts. CASE PRESENTATION: A 35 and a 50 year-old Iranian female with a positive history of animal contact were presented with a neck lump without any compressive symptoms. A physical exam revealed neck masses that elevated with swallowing. Thyroid gland ultrasonography showed cystic thyroid lesions, and fine needle aspiration (FNA) suggested a thyroid hydatic cyst. Thyroid lobectomy and isthmectomy were done for the first patient, and near-total thyroidectomy was done for the other. The pathology report confirmed the diagnosis of a hydatid cyst. None of the patients had hydatid cysts in other sites. Patients were discharged without an antiparasitic drug, and no recurrence was detected at the six-month follow-up. CONCLUSION: It is necessary to consider hydatid cysts in the differential diagnosis of cystic lesions of the thyroid gland in endemic areas, especially in people with a positive history of animal contact.

Retrospective analysis of ultrasound-guided minimally invasive treatment of various thyroid cysts.

PURPOSE: The aim of this article was to determine the efficacy and safety of the combined use of ethanol and microwave (MWA) to thyroid cysts and explore the differences of various cysts. MATERIALS AND METHODS: A total of 136 patients and 142 thyroid cystic nodules and predominantly cystic nodules received combination therapy of ethanol and MWA between January 2016 and December 2019 in BeiJing Friendship Hospital. They were divided into different groups according to the size, and the characteristics of fluid aspirated. We compared the Initial size, treatment procedure, postoperative complications, and follow-up results to analyze the characteristics of different groups. RESULTS: The combination treatments reduced the size of cysts by more than 93% with less complications at the end of follow-up. The treatment duration was longest in the colloid cysts (difference from the clear-fluid group, p < 0.01), the absolute volume of the clear-fluid group at the end of follow-up was the smallest (difference from the other two groups: P < 0.01).There were the similar mean volume reduction rate (VRR) between the large cysts and the small cysts (p > 0.05). CONCLUSION: The combination treatments were applicable to all types of cysts. Understanding the characteristics of different cystic nodules and adopting different methods are helpful for us to carry out the minimally invasive treatment of cysts better.

The Ability of Near-Infrared Autofluorescence to Protect Parathyroid Gland Function During Thyroid Surgery: A Meta-Analysis.

Objective: We conducted this meta-analysis to assess the ability of near-infrared autofluorescence to protect parathyroid gland function during thyroid surgery. Method: A systematic literature search was conducted using PubMed, Embase, and the Cochrane Library electronic databases for studies published up to February 2021. The reference lists of the retrieved articles were also reviewed. Two authors independently assessed methodological quality and extracted the data. A random-effects model was used to calculate the overall pooled variable and the weighted mean deviation. Publication bias in these studies was evaluated using the Egger's and Begg's tests. Result: Seven studies involving 1,480 patients were included in the analysis. Compared with patients in the naked eye group, the pooled relative risk of inadvertent parathyroid gland resection and parathyroid gland autotransplantation for the patients in the near-infrared autofluorescence group was 0.48 (95% CI, 0.26-0.9, p = 0.023) and 0.39 (95% CI, 0.09-1.68, p = 0.208), respectively. The pooled relative risk of hypocalcemia at 1 day postoperatively and at 6 months postoperatively for the patients in the near-infrared autofluorescence group was 0.49 (95% CI, 0.34-0.71, p < 0.001) and 0.34 (95% CI, 0.06-2.03, p = 0.238) compared with patients in the naked eye group. Conclusion: Near-infrared autofluorescence is significantly associated with a reduced risk of inadvertent parathyroid gland resection and hypocalcemia at 1 day postoperatively.

Implication of thyroid function in periodontitis: a nationwide population-based study.

Possible links between periodontitis and various cardiometabolic and autoimmune diseases have been advocated on the basis of chronic inflammation or oxidative stress. However, the association between periodontitis and thyroid dysfunction is under-researched. Participants without previous thyroid disease or ongoing thyroid-related medication were included from a nationwide population-level survey. Participants were categorized into tertiles of thyroid stimulating hormone (TSH) levels (first tertile < 1.76 mIU/L; second tertile 1.76-2.83 mIU/L; third tertile > 2.83 mIU/L), and periodontal condition was assessed using the Community Periodontal Index. Of the total of 5468 participants, 1423 had periodontitis (26%). A significant difference in the weighted prevalence of periodontitis according to TSH tertiles was observed, with the highest prevalence in the first tertile (26.5%) and the lowest prevalence in the third tertile (20.9%, p = 0.003). Subjects in the first TSH tertile had higher odds for periodontitis than those in the third tertile (OR 1.36, 95% CI 1.10-1.68; p for trend = 0.005) after adjusting for covariates. This association was consistent across subgroups and within sensitivity analyses among subjects without specific factors affecting thyroid function or diseases reported to be related to periodontitis. The present study demonstrated that low TSH levels were associated with significantly higher odds for periodontitis.

Characterisation of the onset and severity of adrenal and thyroid dysfunction associated with CTLA4-related hypophysitis.

CONTEXT: The use of the CTLA4 inhibitor, ipilimumab, has proven efficacious in the treatment of melanoma, renal carcinoma and non-small cell lung cancer; however, it is associated with frequent immune-related adverse events (irAE). Ipilimumab-induced hypophysitis (IIH) is a well-recognised and not infrequent endocrine irAE. OBJECTIVE: To investigate the timing of onset and severity of adrenal and thyroid hormone dysfunction around the development of IIH in patients treated for melanoma. DESIGN: Aretrospective review of hormone levels in consecutive adult patients treated with ipilimumab (3 mg/kg) for advanced melanoma as monotherapy or in combination with a PD-1 inhibitor. RESULTS: Of 189 patients, 24 (13%; 13 males; 60.5 ± 12.2 years) presented with IIH at a median of 16.1 (range: 6.7-160) weeks after commencing treatment, occurring in 14 (58%) after the fourth infusion. At the presentation of IIH, corticotroph deficiency was characterised by an acute and severe decrease in cortisol levels to ≤83 nmol/L (≤3 µg/dL) in all patients, often only days after a previously recorded normal cortisol level. Free thyroxine (fT4) levels were observed to decline from 12 weeks prior to the onset of cortisol insufficiency, with the recovery of thyroid hormone levels by 12 weeks after the presentation of IIH. A median fall in fT4 level of 20% was observed at a median of 3 weeks (IQR: 1.5-6 weeks) prior to the diagnosis of IIH. CONCLUSION: IIH is characterised by an acute severe decline in cortisol levels to ≤83 nmol/L at presentation. A fall in fT4 can herald the development of ACTH deficiency and can be a valuable early indicator of IIH.

Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.

McArdle disease is caused by recessive mutations in PYGM gene. The condition is considered to cause a "pure" muscle phenotype with symptoms including exercise intolerance, inability to perform isometric activities, contracture, and acute rhabdomyolysis leading to acute renal failure. This is a retrospective observational study aiming to describe phenotypic and genotypic features of a large cohort of patients with McArdle disease between 2011 and 2019. Data relating to genotype and phenotype, including frequency of rhabdomyolysis, fixed muscle weakness, gout and comorbidities, inclusive of retinal disease (pattern retinal dystrophy) and thyroid disease, were collected. Data from 197 patients are presented. Seven previously unpublished PYGM mutations are described. Exercise intolerance (100%) and episodic rhabdomyolysis (75.6%) were the most common symptoms. Fixed muscle weakness was present in 82 (41.6%) subjects. Unexpectedly, ptosis was observed in 28 patients (14.2%). Hyperuricaemia was a common finding present in 88 subjects (44.7%), complicated by gout in 25% of cases. Thyroid dysfunction was described in 30 subjects (15.2%), and in 3 cases, papillary thyroid cancer was observed. Pattern retinal dystrophy was detected in 15 out of the 41 subjects that underwent an ophthalmic assessment (36.6%). In addition to fixed muscle weakness, ptosis was a relatively common finding. Surprisingly, dysfunction of thyroid and retinal abnormalities were relatively frequent comorbidities. Further studies are needed to better clarify this association, although our finding may have important implication for patient management.

The association between BMI, smoking, drinking and thyroid disease: a cross-sectional study in Wuhan, China.

BACKGROUND: There is no clear conclusion on the relationship between thyroid disease and obesity and lifestyle factors such as smoking and drinking. In this study, we analysed the association of body mass index (BMI), smoking and drinking with subclinical hypothyroidism (SHO) and thyroid nodules (TNs) with the results of a cross-sectional survey of urban residents in central China and discussed the potential mechanism linking these predictive factors and the two diseases. METHODS: This study included 1279 participants who were recruited from a Chinese community in 2011 and 2012. A questionnaire, laboratory examination and ultrasound diagnosis were conducted on these participants. Binary logistic regression analysis was used to analyse these factors. RESULTS: Overweight (BMI ≥ 25 kg/m2) was closely related to SHO and TNs in univariate and multivariate logistic regression analyses. Smoking had a protective effect on SHO and TNs, while drinking had a protective effect on TNs in univariate logistic regression and multivariate logistic regression with some covariates, but there was no significant difference between smoking and drinking and the two kinds of thyroid diseases in multivariate logistic regression analysis with all the covariates. In subgroup analysis, BMI ≥ 25 kg/m2 was significantly associated with SHO in people with positive thyroid antibodies (odds ratio (OR) = 2.221, 95 % confidence interval (CI): 1.168-4.184, P = 0.015) and smokers (OR = 2.179, 95 % CI: 1.041-4.561, P = 0.039). BMI ≥ 25 kg/m2 was significantly associated with TNs in people over 60 years old (OR = 2.069, 95 % CI: 1.149-3.724, P = 0.015) and drinkers (OR = 3.065, 95 % CI: 1.413-6.648, P = 0.005). Drinking alcohol had a protective effect on TNs in smokers (OR = 0.456, 95 % CI: 0.240-0.865, P = 0.016) and people with BMI ≥ 25 kg/m2 (OR = 0.467, 95 % CI: 0.236-0.925, P = 0.029). No significant association was found between smoking and the two thyroid diseases in different subgroups. CONCLUSIONS: Obesity is a risk factor for both TNs and SHO, especially in elderly individuals and people with positive thyroid autoantibodies. Obesity and metabolic syndrome may be more associated with TNs than SHO. Smoking may have a protective effect on thyroid disease, while drinking may have a protective effect only on TNs.

Diagnosis and management of Intratyroid Ectopic Thymus. / Diagnóstico y manejo del Timo Ectópico Intratiroideo.

INTRODUCTION: Intrathyroidal ectopic thymus (IET) is a rare benign condition caused by the aberrant thymic migra tion during embryogenesis. It is usually incidentally diagnosed as a thyroid nodule. OBJECTIVE: To report the intrathyroidal location of ectopic thymic tissue and to describe the ultrasound findings in children. PATIENTS AND METHOD: Retrospective descriptive review of the medical charts and thyroid ultrasound studies of children with nodular images in the thyroid gland, in a third level national pediatric hospital, from January 2010 to August 2017. Solid hypoecogenic intrathyroid lesions with multiple linear tracts or hyperechogenic points that did not change their characteristics during fo llow-up were considered intrathyroidal thymos. The ultrasound follow-up was performed every 4-6 months. The ultrasound characteristics of the lesions (location, laterality, size and shape), the indi cation of the ultrasound scan and the follow-up time were analyzed. RESULTS: Of 147 patients with thyroid nodules, we identified 12 children with lesions suggestive of an IET (8.1%). The mean age at diagnosis was 3.9 years (range 0-8). It was an incidental finding in all cases. Imaging findings were unilateral in eight patients and bilateral in four patients. All lesions were located in the mid and/or posterior portion of the gland. We adopted a watch-and-wait approach with ultrasound follow-up (mean 2.2 years; range 0.83-4) in all patients except in a 7-year-old boy who presented uncertain findings and underwent surgery, confirming IET in the pathological study. CONCLUSIONS: Thymic inclu sions in the thyroid gland are a rare but increasingly frequent finding, possibly related to the increased use of ultrasound studies. Pediatricians and radiologists should be aware of this entity to differentiate it from other thyroid lesions, avoiding unnecessary studies and/or treatments in these patients.

Feasibility and Safety of Outpatient Thyroidectomy: A Narrative Scoping Review.

Background: Outpatient thyroid surgery is gaining popularity as it can reduce length of hospital stay, decrease costs of care, and increase patient satisfaction. There remains a significant variation in the use of this practice including a perceived knowledge gap with regards to the safety of outpatient thyroidectomies and how to go about implementing standardized institutional protocols to ensure safe same-day discharge. This review summarizes the information available on the subject based on existing published studies and guidelines. Methods: This is a scoping review of the literature focused on the safety, efficacy and patient satisfaction associated with outpatient thyroidectomies. The review also summarizes and editorializes the most recent American Thyroid Association guidelines. Results: In total, 11 studies were included in the analysis: 6 studies were retrospective analyses, 3 were retrospective reviews of prospective data, and 2 were prospective studies. The relative contraindications to outpatient thyroidectomy have been highlighted, including: complex medical conditions, anticipated difficult surgical dissection, patients on anticoagulation, lack of home support, and patient anxiety toward an outpatient procedure. Utilizing these identified features, an outpatient protocol has been proposed. Conclusion: The salient features regarding patient safety and selection criteria and how to develop a protocol implementing ambulatory thyroidectomies have been identified and reviewed. In conclusion, outpatient thyroidectomy is safe, associated with high patient satisfaction and decreased health costs when rigorous institutional protocols are established and implemented. Successful outpatient thyroidectomies require standardized preoperative selection, clear discharge criteria and instructions, and interprofessional collaboration between the surgeon, anesthetist and same-day nursing staff.

Continuous Intraoperative Nerve Monitoring in Thyroid Surgery: Can Amplitude Be a Standardized Parameter?

The objective of this study is to evaluate electromyographic waveforms related to vagus monitoring. We collected data from patients undergoing thyroidectomy with CIONM, regardless of vocal cord response amplitude initially measured. We divided data of 193 nerves into three groups, according to initial amplitude value: ≥500 µV (Group 1,110 pt.), between 100 and 500 µV (Group 2, 79 pt.), and <100 µV (Group 3, 4 pt.). ROC curve showed a high diagnostic accuracy of final amplitude absolute value in vocal cord paralysis detection in both groups (89 and 86%). An increase of vocal cord paralysis risk was associated with progressive amplitude reduction (Group 1: OR=1.05, CI=1.02-1.09, p=0.001; Group 2: OR=1.05, CI=1.02-1.08, p=0.002). Cut-off values for amplitude reduction with optimal sensitivity and specificity were -77% in Group 1 and -15% in Group 2. In Group 3 signals showed an amplitude <100 µV for all monitoring, with no loss of a recognizable signal and normal postoperative cordal functionality. The use of a strict amplitude signal cut-off value ≥500 µV could be too restrictive. Also, signal with baseline amplitude <500 µV may be considered equally adequate. Setting the alarm for a reduction of 77% in patients with initial amplitude ≥500 µV and of 15% for those <500 µV could make monitoring safe and an effective aid for surgeons. In conclusion, there are cases in which initial amplitude is lower than that considered as adequate by current literature but with well recognizable and stable EMG waveforms. How those cases should be approached and what should the surgeon's attitude be are a matter of discussion.

Vitamin D and thyroid disorders: a systematic review and Meta-analysis of observational studies.

BACKGROUND: The contribution of vitamin D to thyroid disorders has received paramount attention; however, results are mixed. Hence, we designed a systematic review and meta-analysis to obtain a definitive conclusion. METHODS: The search included PubMed, ISI Web of Science, Scopus, and Google Scholar databases up to March 2021 to collect available papers reporting the relationship between serum levels of vitamin D and thyroid disorders. The pooled effect was reported as weighted mean difference (WMD) and 95% confidence interval (CI). RESULTS: Out of 6123 datasets, 42 were eligible to get into this systematic review and meta-analysis. Serum vitamin D was markedly lower in autoimmune thyroid diseases (AITD) (WMD - 3.1 ng/dl; 95% CI, - 5.57 to - 0.66; P = 0.013; I2 = 99.9%), Hashimoto's thyroiditis (HT) (WMD - 6.05 ng/dl; 95% CI, - 8.35 to - 3.75; P < 0.001; I2 = 91.0%) and hypothyroidism patients (WMD - 13.43 ng/dl; 95% CI, - 26.04 to - 0.81; P = 0.03; I2 = 99.5%), but not in subjects with Graves' disease (GD) (WMD - 4.14 ng/dl; 95% CI, - 8.46 to 0.17; P = 0.06; I2 = 97.5%). CONCLUSIONS: Our findings suggested lower vitamin D levels in patients with hypothyroidism, AITD, and HT compared to healthy subjects. However, the link between serum vitamin D and GD was only significant among subjects ≥40 years old.

Using deep learning to identify the recurrent laryngeal nerve during thyroidectomy.

Surgeons must visually distinguish soft-tissues, such as nerves, from surrounding anatomy to prevent complications and optimize patient outcomes. An accurate nerve segmentation and analysis tool could provide useful insight for surgical decision-making. Here, we present an end-to-end, automatic deep learning computer vision algorithm to segment and measure nerves. Unlike traditional medical imaging, our unconstrained setup with accessible handheld digital cameras, along with the unstructured open surgery scene, makes this task uniquely challenging. We investigate one common procedure, thyroidectomy, during which surgeons must avoid damaging the recurrent laryngeal nerve (RLN), which is responsible for human speech. We evaluate our segmentation algorithm on a diverse dataset across varied and challenging settings of operating room image capture, and show strong segmentation performance in the optimal image capture condition. This work lays the foundation for future research in real-time tissue discrimination and integration of accessible, intelligent tools into open surgery to provide actionable insights.

Prognostic factors of restrictive myopathy in thyroid eye disease.

To investigate the prognostic factors of extraocular muscle restriction in patients with thyroid eye disease (TED), 65 patients with TED and restrictive myopathy were evaluated. Demographics, clinical activity score (CAS), smoking status, thyroid disease status, thyroid hormone status, thyroid autoantibody status, orbital computed tomography (CT) scan at initial presentation, and treatment regimens were assessed. The movements of the most severely affected extraocular muscles were categorized into five grades. The patients were divided into the improved and the not-improved group based on the improvement in the limitation of the extraocular muscle excursion (LOM) throughout the follow-up, and the groups were compared using clinical factors. The mean LOM significantly improved from 2.3 ± 1.1 to 1.7 ± 1.2 after 1 year of follow-up. The excursion of the most restricted muscle improved in 32 patients but not in 33 patients during the follow-up. The initial concentration of the thyroid-stimulating antibody (TSAb) was significantly lower in the improved (229.3 ± 114.1) than in the not-improved group (345.0 ± 178.6) (P = 0.02) Age, sex, smoking status, CAS, thyroid status, and muscle thickness on the CT scan did not significantly differ in the groups. This study showed that the initial concentration of TSAb is a factor affecting the recovery of restrictive myopathy.

Identification of New Rare Variants Associated With Familial Autoimmune Thyroid Diseases by Deep Sequencing of Linked Loci.

CONTEXT: Genetic risk factors play a major role in the pathoetiology of autoimmune thyroid diseases (AITD). So far, only common risk variants have been identified in AITD susceptibility genes. Recently, rare genetic variants have emerged as important contributors to complex diseases, and we hypothesized that rare variants play a key role in the genetic susceptibility to AITD. OBJECTIVE: We aimed to identify new rare variants that are associated with familial AITD. METHODS: We performed deep sequencing of 3 previously mapped AITD-linked loci (10q, 12q, and 14q) in a dataset of 34 families in which AITD clustered (familial AITD). RESULTS: We identified 13 rare variants, located in the inositol polyphosphate multikinase (IPMK) gene, that were associated with AITD (ie, both Graves' disease [GD] and Hashimoto's thyroiditis [HT]); 2 rare variants, within the dihydrolipoamide S-succinyltransferase (DLST) and zinc-finger FYVE domain-containing protein (ZFYVE1) genes, that were associated with GD only; and 3 rare variants, within the phosphoglycerate mutase 1 pseudogene 5 (PGAM1P5), LOC105369879, and methionine aminopeptidase 2 (METAP2) genes, that were associated with HT only. CONCLUSION: Our study demonstrates that, in addition to common variants, rare variants also contribute to the genetic susceptibility to AITD. We identified new rare variants in 6 AITD susceptibility genes that predispose to familial AITD. Of these, 3 genes, IPMK, ZFYVE1, and METAP2, are mechanistically involved in immune pathways and have been previously shown to be associated with autoimmunity. These genes predispose to thyroid autoimmunity and may serve as potential therapeutic targets in the future.

Concurrent thyrolipomatosis and thymolipoma in a patient with myasthenia gravis: a case report and review of the literature.

We present a case of a man with a background of myasthenia gravis who presented with a neck lump, which was diagnosed as thyrolipomatosis in continuity with a very large thymolipoma. Following removal of these lesions, the patient's myaesthenic symptoms improved. While thymolipomas are often seen in the context of myasthenia gravis, thyrolipomatosis is a rare entity and to our knowledge the concurrent finding of both lesions with myasthenia gravis has never been reported. We highlight the important imaging features of both entities and the clinical importance of recognising them.

Cognitive and White Matter Microstructure Development in Congenital Hypothyroidism and Familial Thyroid Disorders.

CONTEXT: Children with congenital hypothyroidism (CH) are at risk for suboptimal neurodevelopment. OBJECTIVES: To evaluate neurocognitive function and white matter microstructure in children with permanent or transient CH and to correlate these findings with disease severity. DESIGN, PARTICIPANTS AND METHODS: A retrospective and prospective observational study was conducted in 39 children with permanent or transient CH, and in 39 healthy children. Cognitive function was assessed by Wechsler Intelligence Scale, Fourth Edition, and by other tests; the white matter microstructure was investigated by 3 Tesla magnetic resonance imaging. RESULTS: Children with permanent CH have lower cognitive scores at a median age of 9.5 years than those with transient CH and controls. An IQ score between 71 and 84 was found in 28.6% of permanent CH and of <70 (P = 0.06) in 10.7%. The Processing Speed Index (PSI; P = 0.004), sustained visual attention (P = 0.02), reading speed (P = 0.0001), written calculations (P = 0.002), and numerical knowledge (P = 0.0001) were significantly lower than controls. Children born to mothers with Hashimoto's thyroiditis have significantly lower IQ values (P = 0.02), Working Memory Index (P = 0.03), and PSI (P = 0.02). Significantly lower IQ and Verbal Comprehension Index values were found in children with a family history of thyroid disorders (P = 0.004 and P = 0.009, respectively). In children with permanent CH, significant correlations between abnormalities in white matter microstructural, clinical, and cognitive measures were documented. CONCLUSIONS: These findings indicate that children with CH are at risk of neurocognitive impairment and white matter abnormalities despite timely and adequate treatment. The association between offspring cognitive vulnerability and maternal thyroid disorders requires careful consideration.