Acute Cerebellar Infarct in A Patient with Undiagnosed Fahr Syndrome: A Case Report.

Introduction: Fahr disease and Fahr syndrome represent clinical entities that result in diffuse intracranial brain calcification, either by way of genetic mutation in the case of the former or by secondary endocrine dysfunction in the latter.

Case Report: We present a case of a middle-aged male with undiagnosed Fahr syndrome, identified during evaluation for symptoms of an acute posterior circulation cerebrovascular accident.

Conclusion: Fahr syndrome is a clinical constellation of symptoms and radiographic findings often seen in late-stage hypoparathyroidism.

Defining the Thyroid-RLN Entry Triangle for Enhanced Recurrent Laryngeal Nerve Exposure in TOETVA: A Retrospective Study.

Background: Injury to the recurrent laryngeal nerve (RLN) and parathyroid glands (PGs) are the most common and serious complications during the transoral endoscopic thyroidectomy vestibular approach (TOETVA), and their exposure and protection are the most important factors affecting the operation time. Here, we report a novel anatomical landmark and surgical method to shorten the operative time and reduce the chance of injury to the RLN and PGs.

Methods: According to the different exposure methods of the RLN, patients were divided into the experimental group (from top to bottom, E-group) and the comparison group (from outside to inside, C-group), and 1:1 propensity score-matching (PSM) was performed.

Potential determinants and predictors of hypoparathyroidism after total thyroidectomy in pediatric patients.

Objective: Few studies have reported risk factors for post-thyroidectomy hypoparathyroidism (HPT) in children. We aimed to identify predicting factors for transient and permanent HPT after total thyroidectomy in pediatric patients.

Study Design: Retrospective review of medical charts.

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp.

Summary: HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene. We present a case of a 56-year-old male diagnosed with hypoparathyroidism, sensorineural deafness, renal hypoplasia and epilepsy. Genetic testing revealed a novel GATA3 heterozygous mutation c.

Idiopathic hypoparathyroidism presenting as fatigue.

Fatigue is a common symptom encountered in clinical practice, often posing a diagnostic challenge due to its myriad underlying causes. A comprehensive clinical history can serve as a valuable guide in such diagnostic dilemmas. A man in his 30s presented with a history of intermittent fatigue.

Outcome Analysis of Parathyroid Gland Auto-transplantation in Pediatric Patients: A Retrospective Review.

Parathyroid gland (PG) auto-transplantation is performed to preserve the function of de-vascularized or unintentionally removed PGs, however, little has been published about the technique and outcomes in children. In our study, we aimed to present the results of PG auto-transplantation in children undergoing thyroidectomy or parathyroidectomy at a tertiary single institution. A retrospective review identified 14 patients (<18 years of age) who underwent PG auto-transplantation from January 2000 to December 2022.

The Utility of the PTeye Autofluorescence Detection Device During Parathyroidectomy for the Treatment of Primary Hyperparathyroidism.

Background: This study evaluates the utility of PTeye autofluorescence (AF) technology in primary hyperparathyroidism (PHPT) surgery.

Methods: A retrospective review analyzed 232 patients undergoing first-time parathyroid surgery between September 2021 and 2023. Of these, 92 underwent surgery consecutively without PTeye assistance, then 140 underwent PTeye-guided surgery consecutively.

Out-of-frame translation rescues a loss-of-function variant in a novel TBCE phenotype.

Context: Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy and optic atrophy.

Objective: We identified patients with a novel, milder TBCE-associated phenotype and aimed to characterize it at the clinical and molecular levels.

Materials And Methods: We conducted splicing analysis using deep NGS sequencing of RT-PCR products and detected TBCE through Western blotting.

The parathyroid glands identification of carbon nanoparticles via preoperative injection in reoperation of recurrent benign multinodular goiter.

Introduction: Benign multinodular goiter (BMNG) can grow very large and cause compression symptoms, making the operation procedure difficult. However, the recurrence rate of BMNG ranges from 3% to 43%. Reoperative thyroid surgery for BMNG is uncommon and can result in a high rate of complications, including hypoparathyroidism and recurrent laryngeal nerve palsy.

An activating CaSR variant with biased signaling reveals a critical residue for Gα11 coupling.

Autosomal dominant hypocalcemia (ADH) is due to enhanced calcium-dependent signaling caused by heterozygous gain-of-function (GOF) variants in the CASR gene (ADH1) or in the GNA11 gene, encoding Gα11 (ADH2). Both ADH1 and ADH2 are associated with hypocalcemia and normal or inappropriately low levels of circulating PTH. ADH1 patients typically manifest hypercalciuria, while ADH2 is associated with short stature in approximately 42% of cases.

Post-thyroidectomy hypoparathyroidism: A clinical surgical dilemma.

Thyroid dysfunction directly affects human health and overall well-being; various approaches are available for the treatment of thyroid diseases, including conservative measures and surgical interventions. Despite advancements in conservative treatment, surgery remains the preferred option. Hypoparathyroidism is the primary cause of hospitalization after thyroidectomy, leading to cost-related concerns and a detrimental impact on patients' overall quality of life.

Predictors of hypocalcaemia and hypoparathyroidism in patients undergoing thyroidectomy for benign and malignant pathologies.

Objective: To analyse the risk factors of hypoparathyroidism and hypocalcaemia after total thyroidectomy.

Methods: Clinical data of patients who underwent total thyroidectomy at a tertiary care hospital in southern part of India were collected retrospectively from January 2021 to May 2023. Multivariate logistic regression was used to analyse the risk factors associated with transient hypoparathyroidism and hypocalcaemia separately.

Feasibility of Lobectomy in Selected Patients with Unilateral N1b Papillary Thyroid Cancer.

Background: Total thyroidectomy (TT) is usually recommended for unilateral papillary thyroid cancer (PTC) with lateral lymph node metastasis (LLNM), but no significant improvement in recurrence-free survival (RFS) is seen upon treatment. As an initial surgery, lobectomy may have advantages in appropriately selected unilateral PTC with ipsilateral LLNM.

Objective: This study aimed to explore the feasibility of lobectomy for selected unilateral PTC with ipsilateral LLNM.

Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.

Neurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues. Here we show the local reduction of two vestibulo-cerebellar lobules, the paraflocculus and flocculus, in mouse models and humans with 22q11.

Calcium and vitamin D substitution for hypoparathyroidism after thyroidectomy - how is it continued after discharge from hospital?

Purpose: Postoperative hypoparathyroidism (HypoPT) is one of the most feared complications after thyroid surgery. In most cases, HypoPT is transient, requiring temporary substitution with calcium and active vitamin D. The analysis was conducted to investigate how calcium and vitamin D substitution was managed in routine postoperative clinical practice after discharge from hospital.

mPatch: A Wearable Hydrogel Microneedle Patch for In Vivo Optical Sensing of Calcium.

This study presents an in vivo optical hydrogel microneedle platform that measures levels of analytes in interstitial fluid. The platform builds on a previously published technique for molding hydrogel microneedles by developing a composite hydrogel (i.e.

Prophylactic central lymph node dissection for low-risk papillary thyroid cancer-Impact on subsequent therapy.

Background: For small papillary thyroid cancers (PTCs) with no lateral nodal involvement, American Thyroid Association guidelines recommend performing prophylactic central lymph node dissection (pCLND) if it influences further management. Our cohort study explored to what extent performing pCLND for small PTCs can de-escalate subsequent therapy including completion thyroidectomy and adjuvant radioactive iodine (RAI) ablation.

Methods: Adults with T1, T2, and cN0 PTCs were identified from 42 centers across the prospectively maintained Australian and New Zealand Thyroid Cancer Registry (ANZTCR) between 2017 and 2023.

Impact of Intraoperative Nanocarbon Staining and parathyroid autotransplantation on parathyroid injury and recovery in adult thyroidectomy: a retrospective cohort study.

Background: Thyroid surgeries are intricate operations that carry the risk of damaging the parathyroid glands, which can result in hypocalcemia and potential long-term hypoparathyroidism. Innovative surgical techniques including Intraoperative Nanocarbon Staining (INS), aim to enhance the preservation of parathyroid glands. This study assesses the effectiveness of INS combined with parathyroid autotransplantation in reducing postoperative complications and preserving parathyroid function.

Management of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.

Purpose: Autosomal Dominant Hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CASR), is characterized by a variable degree of hypocalcemia and hypercalciuria with inappropriately low PTH. The clinical spectrum is broad, ranging from being asymptomatic to presenting with severe clinical features of hypocalcemia and end-organ damage such as nephrolithiasis and intracerebral calcifications. Although the underlying pathophysiology is different, ADH1 patients are often managed as patients with 'classical' primary hypoparathyroidism, possibly leading to (exacerbation of) hypercalciuria.