Spindle epithelial tumor with thymus-like element (SETTLE)-Report of a rare thyroid carcinoma.

Spindle epithelial tumor with thymus-like element should be included in the differential diagnosis of thyroid gland cancers, particularly in medullary carcinoma, younger patients and indolent clinical presentation, because it may influence treatment and prognosis.

Seronegative celiac disease with transient protein-losing enteropathy and vitamin B12 deficiency in a pediatric patient: Case report.

Key Clinical Message: Early recognition and management of seronegative celiac disease, even in the absence of typical serological markers, can prevent complications and ensure better health outcomes in pediatric patients. Consideration of a gluten-free diet in similar cases can lead to significant clinical improvement. Abstract: Celiac disease, characterized by its diverse clinical manifestations, often necessitates adherence to a gluten-free diet, particularly in pediatric patients for optimal growth and development. This report presents the case of an 11-year-old male who exhibited recurrent symptoms of fever and diarrhea progressing to edema and pallor, with a history dating back to age 3. Laboratory findings revealed pancytopenia, hypoalbuminemia, and proteinuria. Despite negative serological markers, noninvasive tests, along with clinical improvement on a gluten-free diet and supportive measures within a month, suggested celiac disease complicated by transient protein-losing enteropathy and vitamin B12 deficiency. It is important to note that other malabsorption disorders can also show clinical improvement following a gluten-free diet. Additionally, the antibiotic treatment received by the patient could have addressed other possible causes of malabsorption, complicating the differential diagnosis. This case highlights the importance of early recognition and management of celiac disease, especially in pediatric patients, to prevent complications and promote optimal health outcomes.

Successful endoscopic endonasal trans-sphenoidal resection for pituitary macro adenoma with apoplexy in a twin pregnancy: A case report.

Key Clinical Message: Pituitary apoplexy is a medical and surgical emergency requiring prompt diagnosis and often urgent treatment to manage symptoms and prevent further complications. Abstract: This report describes the successful management of a 37-year-old pregnant woman with a history of pituitary macroadenoma and apoplexy during a twin pregnancy. Presenting with bitemporal vision loss, a common pituitary adenoma symptom, she showed no other alarming signs despite a twin pregnancy. Successful endoscopic resection improved her vision, and postoperative recovery was uneventful. The discussion underscores significance of the diagnostic utility of contrast MRI. The patient's favorable outcome supports endoscopic resection feasibility in pregnant individuals with pituitary apoplexy.

A patient with a rare co-occurrence of papillary and follicular thyroid carcinomas.

The occurrence of papillary and follicular thyroid carcinoma as a collision tumor is rare. We report on a case of a collision tumor consisting of papillary and follicular thyroid carcinoma treated successfully with surgery and radioiodine ablation.

Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations.

Phenylketonuria (PKU) is a hereditary disorder caused by phenylalanine hydroxylase enzyme (PAH) defects that might cause severe brain damage. The current main treatment, dietary management, can prevent the symptoms if commenced early. However, it has side effects if used for a long time. Additionally, some patients with mild hyperphenylalaninemia (mHPA), who has serum phenylalanine levels <360 µmol/L, do not require treatment. Since the correlation between genotype and metabolic phenotype has been demonstrated earlier, genotype-based detection of patients who do not need treatment might help with genetic counseling and choosing the most appropriate treatment option. In this study, we report an asymptomatic adult with mHPA who had never taken any medical intervention to control or lower her serum phenylalanine level (Phe). She had 179 µmol/L serum phenylalanine level and carried p.[V230A];[V230I] genotype. Her child was affected with phenylketonuria and had p.[V230A];[V230A] genotype. Both pathogenic variants detected in the asymptomatic adult with mHPA were computationally analyzed to assess their pathogenicity and the p.V230I pathogenic variant was demonstrated to be responsible for the mHPA phenotype in the asymptomatic adult detected in this study. The findings in this study could contribute to genetic counseling and treatment for families and individuals with p.[V2030I];[V230A] genotype.

A rare case of isolated ACTH deficiency associated with a Rathke's Cleft Cyst and a review of the literature.

A 78-year-old man was referred to clinic due to a 5-year history of weight loss, lethargy, and pathology showing hyponatremia. In the year prior, he had a hospital admission for symptomatic hyponatremia. MRI brain during that admission showed a 1-2 mm pituitary lesion of unknown significance. Testing during this presentation revealed hypocortisolism with ACTH deficiency. Progress MRI brain revealed the presence of a Rathke's Cleft Cyst (RC). Medical management with glucocorticoids resulted in symptomatic and biochemical parameter improvement. To our knowledge this is the first reported case of isolated ACTH deficiency in the setting of a RC.

Long-term survival in a dog with probable thyroid storm.

Key Clinical Message: Thyroid storm is a rare, life-threatening endocrine emergency that may occur in dogs. With rapid identification and early aggressive therapy, long-term survival is possible. Abstract: The aim of this paper was to describe the successful emergency management and long-term survival of a dog with probable thyroid storm. We present proposed guidelines for the characterization of thyroid storm in dogs, and treatment considerations as utilized for this patient. A 6-year-old female spayed German Shepherd Dog was presented to a multispecialty center for radiation planning and treatment of a previously diagnosed nonresectable functional thyroid carcinoma. Recovering from anesthesia, the patient developed clinical features that would qualify as thyroid storm using human metrics. The patient improved with aggressive treatment of thyroid storm, extrapolating from human and feline recommendations. This is the first known report of long-term survival in a canine with suspected thyroid storm. The crisis was effectively identified and emergently treated.

Trust but verify: A case report of unintended medication omission.

An accurate medication history prevents medication errors during transitions of care, whereas an inaccurate medication history may lead to unnecessary tests or prolonged hospitalization. We describe the case of a patient with chronic hypothyroidism who presented to the hospital with severe hypothyroidism and reported strict adherence to her home levothyroxine.

Vitamin D prescribing practices among clinical practitioners during the COVID-19 pandemic.

Background and Aims: COVID-19 has caused devastation globally. Low vitamin D status, particularly during the winter months, remains commonplace around the world, and it is thought to be one of the contributing factors toward causation and severity of COVID-19. Many guidelines do not recommend vitamin D for the treatment or prevention of the disease. Hence, we set out to conduct a global survey to understand the use and prescribing habits of vitamin D among clinicians for COVID-19. Methods: An online anonymous questionnaire was sent to clinicians enquiring about their prescribing habits of vitamin D and personal use of vitamin D. Data of the survey were collected between January 15, 2021, and February 13, 2021. Results: Four thousand four hundred forty practicing clinicians were included in the analysis, with the majority of those responding from Asia, followed by Europe. 82.9% prescribed vitamin D before COVID-19, more commonly among general practitioners (GPs) in comparison with medical specialists, and Asian clinicians were more likely to prescribe vitamin D in comparison with Caucasian physicians (p < 0.01). GPs were also more likely to prescribe vitamin D prophylactically to prevent COVID-19 in comparison with medical specialists (OR 1.47, p < 0.01). Most GPs (72.8%) would also prescribe vitamin D to treat COVID-19 in comparison with medical specialists (OR 1.81, p < 0.01), as well as more Asian in comparison with Caucasian physicians (OR 4.57, p < 0.01). 80.4% of respondents were taking vitamin D, more so in the 45-54 and 65-74 age groups in comparison with the 18-24 years category (OR 2.15 and 2.40, respectively, both p < 0.05), many of whom did so before COVID-19 (72.1%). Conclusion: This survey has shown that many clinicians would prescribe vitamin D for the prevention and treatment of COVID-19. The majority would also recommend measuring vitamin D levels, but not so in patients with COVID-19.

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis.

The IDUA gene (MIM 252800) provides instructions for producing alpha-L-iduronidase, which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene have been found to cause Mucopolysaccharidosis type I (MPS I) (MIM 607014). This leads to the accumulation of GAGs within lysosomes causing many different organs and tissues to be dysfunctional. Deleted IDUA gene has not been reported in the literature, which showed to be associated with a severe phenotype in our proband case. We report a child from a consanguineous family who presented with severe cardiogenic shock attributed to dilated cardiomyopathy. He was also found to have hepatosplenomegaly, joint stiffness, hearing loss, corneal hazing, facial dysmorphism, and dilation of brain ventricles. Lysosomal storage disease particularly MPS I was suspected though it is considered to be an early atypical presentation. The diagnosis was achieved via gene mutation analysis which showed homozygous IDUA deletion of exon 9' to 3' in combination with a severe deficiency of alpha-L-iduronidase enzyme. A variant in the form of IDUA gene deletion may indicate an early severe phenotypic presentation of MPS I. Establishment of the diagnosis permits genetic counseling, prevents patients from undergoing unhelpful diagnostic procedures, and allows for accurate prognosis.

Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.

OBJECTIVE: We investigated a strategy of exome sequencing DNA from the unaffected parents and applied a set of filtering criteria to identify genes where both partners are heterozygous for a potentially pathogenic variant. CASE REPORT: We report a non-consanguineous couple who had three daughters, all spontaneous preterm birth at 36 weeks gestation and died in the first period after birth, suspected inborn errors of metabolism. Two days after birth, the first daughter presented with difficulty breathing, cyanosis and died; the second died at 33 days old; the third daughter was isolated under special care and was taken to the mother's room, developed the same symptoms and died after 5 days. Dried blood spot testing screen of 55 congenital metabolic disorders was negative. CONCLUSION: Heterogenous variant in SLC25A20 gene was found in both parents, contributing to the delineations of the neonatal phenotypes related to SLC25A20 mutation in CACTD.

Reactive arthritis and silent thyroiditis following SARS-CoV-2 infection: Case report and review of the literature.

SARS-CoV-2 has been implicated in the development of reactive arthritis (ReA) days to weeks following exposure or infection. We present a case of ReA with enthesitis and subsequent silent thyroiditis in a patient following infection with SARS-CoV-2, along with a review of the published cases of SARS-CoV-2-related ReA.

Recurrent thyrotoxic periodic paralysis with normokalemia in a 36-year-old man: A case report.

Among patients with thyrotoxicosis and proximal muscle weakness, some patients with TPP may present with apparent normokalemia in whom a careful administration of potassium may lead to rapid reversal of muscle weakness.

Gastric perforation caused by secondary systemic amyloidosis.

Amyloid A amyloidosis secondary to chronic inflammation involves systemic organs and tissues, including the gastrointestinal tract. In the present case, massive amyloid deposit caused gastric perforation. IgM co-deposition in the glomeruli was another finding of note.

Prenatal management of fetal goiter alternating between hypothyroidism and hyperthyroidism in a mother with Graves' disease.

We present a rare documented case with consecutive hypo- and hyperthyroidism during fetal life. First, hypothyroidism was due to transplacental passage of antithyroid drugs. After the mother's thyroidectomy, fetal hyperthyroidism was due to transplacental passage of persistent anti-thyrotropin receptor antibodies. Fetal goiter disappeared after adjusting maternal treatment.

Hypocalcemia as an important differential diagnosis in patients suffering from stridor following thyroidectomy.

It is essential to consider hypocalcemia as a cause of stridor, especially following postoperative thyroidectomy, as hypocalcemia secondary to hypoparathyroidism is an important differential diagnosis. Advances in intraoperative technology to optimize the vascularization of the parathyroid glands can help to predict and prevent patients from a postoperative hypoparathyroidism.

Ambulatory intravenous insulin and islet cell transplantation to treat severe type III insulin hypersensitivity in a patient with type 1 diabetes mellitus.

Allogenic pancreatic islet cell transplantation is an appropriate treatment option to consider in the management of refractory cases of severe hypersensitivity to insulin in patients with type 1 diabetes mellitus.

Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings.

The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.