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Current Rheumatology Reviews 2024Primary hyperoxaluria consists of a group of inherited disorders with enzymatic defects in the glyoxylate pathway, leading to decreased oxalate metabolism. The resulting... (Review)
Review
BACKGROUND
Primary hyperoxaluria consists of a group of inherited disorders with enzymatic defects in the glyoxylate pathway, leading to decreased oxalate metabolism. The resulting oxalic deposition is specifically responsible for kidney disease and joint disease. Neonatal oxalosis is the most severe form of primary hyperoxia type 1, with the onset of end-stage renal disease in childhood.
CASE PRESENTATION
A 55-year-old hemodialysis man was referred to Nephrology because of inflammatory polyarthralgia and periarticular swelling evolving for six months. He had been on hemodialysis for six years for end-stage chronic renal failure, diagnosed at the same time as primary hyperoxaluria. Radiological investigation showed a rugby jersey appearance on the lumbar spine, budding calcium tone opacities next to large joints and clavicles, vascular calcifications and tumoral calcinosis. The synovial fluid contained a few cells with polymorphic intracellular crystals. We ruled out hyperparathyroidism, hypoparathyroidism, and related phosphocalcic disorders, and we retained arthropathy and tumoral calcinosis secondary to primary hyperoxaliuria. The patient also had congestive heart failure. Despite intensification of hemodialysis, he did not improve and died at the age of 56 in the context of cachexia.
CONCLUSION
This rare case documents the possible occurrence of late clinical presentation and long survival in primary oxalosis with extra renal complications.
Topics: Humans; Male; Middle Aged; Hyperoxaluria, Primary; Calcinosis; Renal Dialysis; Kidney Failure, Chronic; Fatal Outcome; Crystal Arthropathies; Joint Diseases
PubMed: 38243963
DOI: 10.2174/0115733971271874231118154332 -
Academic Radiology May 2024The dogma is that normal parathyroid glands (PTGs) are not visible on ultrasound (US). Recently, several studies have shown that PTGs present these US features: ovoid...
RATIONALE AND OBJECTIVES
The dogma is that normal parathyroid glands (PTGs) are not visible on ultrasound (US). Recently, several studies have shown that PTGs present these US features: ovoid structure, homogeneous and hyperechoic. The primary objective was to assess the detection rate, standard size and locations of normal PTGs in a population of patients consulting for thyroid US exam. The secondary objective was to determine if the presence of a goiter or a thyroiditis could modify the visualization of normal PTGs.
METHOD
Single-center prospective study on 192 patients based on the typical US appearance previously described to identify one or more PTGs.
RESULTS
One or more PTGs were visualized in 75% of patients (144/192). They were visualized preferentially at the lower pole of the thyroid gland and in the infra-thyroid region (66%). The mean (± SD) size of normal PTGs was 5.68 mm (± 1,42 mm)×4.05 mm (± 1,03 mm)×2,68 mm (± 0,61 mm) and mean volume was 33.3 mm3 (± 17.75 mm3). The presence of a goiter made the search for PTGs more difficult whereas the presence of thyroiditis facilitated it.
CONCLUSION
The US detection rate of PTGs is high (75%). The identification of PTGs could be particularly useful in the preoperative assessment before total thyroidectomy or parathyroid surgery. It could reduce the risk of postoperative hypoparathyroidism and improve the accuracy of postoperative US surveillance of thyroid cancer. Better knowledge of the usual anatomical location of normal PTGs could also enable better detection of abnormal glands.
PubMed: 38777720
DOI: 10.1016/j.acra.2024.03.026 -
Journal of Robotic Surgery Mar 2024Minimally invasive thyroidectomy (MIT) is increasingly being used for the thyroid tumors. The comparison of bilateral axillo-breast approach robotic thyroidectomy... (Meta-Analysis)
Meta-Analysis Review
Perioperative outcomes of bilateral axillo-breast approach robotic thyroidectomy (BABART) versus minimally invasive thyroidectomy (MIT): a systematic review and meta-analysis.
Minimally invasive thyroidectomy (MIT) is increasingly being used for the thyroid tumors. The comparison of bilateral axillo-breast approach robotic thyroidectomy (BABART) with other MIT has not yet led to a unified conclusion with regard to surgical outcomes. To conduct a systematic review and meta-analysis of the literature on the surgical outcomes of BABART compared with MIT. We performed a systematic search in PubMed, Web of Science, Embase and Cochrane Library database for randomized control trials (RCTs) and non-RCTs that compare BABART to MIT. The primary outcomes included perioperative, postoperative complications. The odds ratio (OR) and mean difference (MD) were applied for the comparison of dichotomous and continuous variables with 95% confidence intervals (CIs). Nine studies, comprising 3645 patients, were included in the meta-analysis. Our findings indicated that there were no significant differences in hospital stay, number of retrieved lymph nodes, recurrent laryngeal nerve (RLN) injury, and vocal cord dysfunction between BABRT and MIT. However, BABART was associated with a shorter operation time (MD = - 21.45 min, 95% CI [- 47.27, 4.38], p = 0.1) and lower rate of permanent hypoparathyroidism (OR = 0.42, 95% CI [0.20, 0.88], p = 0.02). Additionally, the MIT group had reduced postoperative pain score (MD = 0.45, 95% CI [0.02, 0.88], p = 0.04) and lower rate of hypocalcemia (OR = 2.31, 95% CI [1.04, 5.13], p = 0.04) than the BABART group. In comparison with MIT, BABART exhibits better results in terms of operative time and the rate of permanent hypoparathyroidism, with no significant difference in hospital stay, number of retrieved lymph nodes, RLN injury, and vocal cord dysfunction. However, the postoperative pain score and the rate of hypocalcemia of MIT are slightly better that of BABART.
Topics: Humans; Thyroidectomy; Robotic Surgical Procedures; Hypocalcemia; Postoperative Complications; Pain, Postoperative; Hypoparathyroidism; Vocal Cord Dysfunction
PubMed: 38520624
DOI: 10.1007/s11701-024-01891-0 -
Cureus Oct 2023Multiple endocrine neoplasia (MEN) is an inherited, autosomal dominant condition characterized by primary parathyroid hyperplasia, medullary thyroid neoplasm, and...
Multiple endocrine neoplasia (MEN) is an inherited, autosomal dominant condition characterized by primary parathyroid hyperplasia, medullary thyroid neoplasm, and pheochromocytoma. It most commonly presents with medullary thyroid cancer and less frequently with other complaints. Pheochromocytoma can also manifest through gastrointestinal complaints such as abdominal pain, nausea, and constipation. We present a normotensive case of pheochromocytoma, initially featuring abdominal pain and vomiting, which was later found to be associated with neck swelling and medullary thyroid cancer. The patient underwent an adrenalectomy and has continued to visit our endocrinology clinic for ongoing monitoring and treatment of iatrogenic hypoparathyroidism and hypothyroidism. A brief review is also provided.
PubMed: 38022135
DOI: 10.7759/cureus.47063 -
Surgical Laparoscopy, Endoscopy &... Aug 2023Our study aims to compare the effects of different levels of access on postoperative neck bulge and swallowing disorder and provide a better level for endoscopic...
OBJECTIVE
Our study aims to compare the effects of different levels of access on postoperative neck bulge and swallowing disorder and provide a better level for endoscopic thyroidectomy.
MATERIALS AND METHODS
The patients were selected retrospectively between March 2021 to September 2021 by the Department of Thyroid Surgery, Third Affiliated Hospital of Zunyi Medical University. They were divided into two groups according to the level of the free flap during surgery: group A (the superficial cervical fascial level) and group B (the superficial deep cervical fascial level). Age, sex, body mass index, diameter of the primary lesion, postoperative neck bulge, and swallowing disorders and other complications were compared between the two groups.
RESULTS
A total of 40 patients who underwent endoscopic unilateral lobectomy plus central region lymph node dissection were enrolled in our study. Twenty in group A and 20 in group B. The age, gender, body mass index, diameter, and the proportion of benign and malignant primary lesions were not significantly different between the two groups ( P >0.05), and there was also no difference in thyroid function between the two groups ( P >0.05). No significant differences were observed in terms of bleeding and operation time during the operation ( P >0.05). There were also no statistical differences in terms of recurrent laryngeal nerve injury or hypoparathyroidism ( P >0.05). However, patients in group B were superior to those in group A in the occurrence of neck bulge and swallowing disorders ( P <0.05). These symptoms were most evident one month after surgery. Six months after the operation, only 4 patients in group B still complained of neck "swelling" and uncomfortable straining which did not resolve until 1 year after the operation. No statistical significance between long-term results and complication rates could be observed in either group.
CONCLUSION
In endoscopic thyroidectomy, the superficial cervical fascial level may be a better option for reducing postoperative neck bulge and swallowing disorders, which needs further validation by conducting a large sample study.
Topics: Humans; Thyroidectomy; Deglutition Disorders; Thyroid Neoplasms; Retrospective Studies; Neck Dissection; Postoperative Complications
PubMed: 37311030
DOI: 10.1097/SLE.0000000000001183 -
OTO Open 2024This systematic review and meta-analysis aimed to assess whether preoperative administration of calcium and vitamin D prevents postoperative hypocalcemia. (Review)
Review
OBJECTIVE
This systematic review and meta-analysis aimed to assess whether preoperative administration of calcium and vitamin D prevents postoperative hypocalcemia.
DATA SOURCES
A computerized search in Medline, Embase, and CENTRAL databases was performed.
REVIEW METHODS
Trials comparing preoperative calcium and vitamin D administration with either placebo or nothing were eligible for inclusion. The primary outcomes were the occurrence of laboratory hypocalcemia, mean postoperative calcium level, and symptomatic hypocalcemia. The secondary outcomes were the development of permanent hypoparathyroidism and length of hospitalization. Continuous outcomes were represented as standardized mean difference (SMD), and dichotomous outcomes were represented as risk ratio (RR).
RESULTS
Nine trials that enrolled 1079 patients were found eligible. Postoperative laboratory hypocalcemia occurred less in patients who received preoperative calcium and vitamin D, but it was not statistically significant (RR = 0.77, 95% CI: 0.60-1.00; = .05). Mean postoperative calcium level was significantly higher in the intervention group (SMD = 0.10, 95% CI: 0.07-0.12; < .00001). The number of patients with symptomatic hypocalcemia was significantly lower in the intervention group (RR = 0.54, 95% CI: 0.38-0.76; = .0005). There was no significant difference between the 2 groups in cases of permanent hypoparathyroidism and length of hospitalization.
CONCLUSION
Administration of calcium and vitamin D preoperatively achieves lower rates of postthyroidectomy symptomatic hypocalcemia in comparison with no intervention.
PubMed: 38371915
DOI: 10.1002/oto2.116 -
Journal of Endocrinological... Nov 2023Radiofrequency ablation (RFA) has emerged as a minimally invasive approach to single parathyroid adenoma in primary hyperparathyroidism; however, there is limited...
INTRODUCTION
Radiofrequency ablation (RFA) has emerged as a minimally invasive approach to single parathyroid adenoma in primary hyperparathyroidism; however, there is limited evidence on its effectiveness.
OBJECTIVE
To evaluate the effectiveness and safety of RFA to treat hyper-functioning parathyroid lesions suggestive of adenomas.
MATERIAL AND METHODS
A prospective study was conducted in consecutive patients with primary hyperparathyroidism treated with RFA for single parathyroid lesions in our reference center between November 2017 and June 2021. Pre-treatment (baseline) and follow-up analytical data were gathered on total protein-adjusted calcium, parathyroid hormone [PTH], phosphorus, and 24-h urine calcium. Effectiveness was defined as complete response (normal calcium and PTH), partial response (reduced but not normalized PTH with normal serum calcium), or disease persistence (elevated calcium and PTH). SPSS 15.0 was used for statistical analysis.
RESULTS
Four of thirty-three enrolled patients were lost to the follow-up. The final sample comprised 29 patients (22 females) with mean age of 60.93 ± 13.28 years followed up for a mean of 16.29 ± 7.23 months. Complete response was observed in 48.27%, partial response in 37.93%, and hyperparathyroidism persistence in 13.79%. Serum calcium and PTH levels were significantly lower at 1 and 2 years of post-treatment than at baseline. Adverse effects were mild, with two cases of dysphonia (self-limited in one patient) and no cases of hypocalcaemia or hypoparathyroidism.
CONCLUSION
RFA may be a safe and effective technique to treat hyper-functioning parathyroid lesions in selected patients.
Topics: Female; Humans; Middle Aged; Aged; Calcium; Hyperparathyroidism, Primary; Prospective Studies; Parathyroid Hormone; Radiofrequency Ablation; Adenoma
PubMed: 37032399
DOI: 10.1007/s40618-023-02078-4 -
Journal of the Endocrine Society Oct 2023The glial cells missing 2 () gene functions as a transcription factor that is essential for parathyroid gland development, and variants in this gene have been associated...
CONTEXT
The glial cells missing 2 () gene functions as a transcription factor that is essential for parathyroid gland development, and variants in this gene have been associated with 2 parathyroid diseases: isolated hypoparathyroidism in patients with homozygous germline inactivating variants and primary hyperparathyroidism in patients with heterozygous germline activating variants. A recurrent germline activating missense variant of , p.Y394S, has been reported in patients with familial primary hyperparathyroidism.
OBJECTIVE
To determine whether the p.Y394S missense variant causes overactive and enlarged parathyroid glands in a mouse model.
METHODS
CRISPR/Cas9 gene editing technology was used to generate a mouse model with the germline heterozygous variant p.Y392S that corresponds to the human p.Y394S variant. Wild-type () and germline heterozygous () mice were evaluated for serum biochemistry and parathyroid gland morphology.
RESULTS
mice did not show any change compared to mice in serum calcium and parathyroid hormone levels, parathyroid gland histology, cell proliferation, or parathyroid gland size.
CONCLUSION
The mouse model of the p.Y392S variant of shows that this variant is tolerated in mice, as it does not increase parathyroid gland cell proliferation and circulating calcium or PTH levels. Further investigation of mice to study the effect of this variant of on early events in parathyroid gland development will be of interest.
PubMed: 37885910
DOI: 10.1210/jendso/bvad126 -
Case Reports in Women's Health Mar 2024Hypercalcemia in pregnancy is rare and can pose a great diagnostic challenge due to its asymptomatic presentation. It is associated with maternal complications such as...
Hypercalcemia in pregnancy is rare and can pose a great diagnostic challenge due to its asymptomatic presentation. It is associated with maternal complications such as urolithiasis, pancreatitis, renal insufficiency and preeclampsia, fetal complications such as growth restriction and intrauterine fetal demise, and neonatal complications such as neonatal hypocalcemia, tetany and hypoparathyroidism. Prompt diagnosis and treatment of the underlying cause of hypercalcemia is important. Two cases of hypercalcemia in pregnancy were encountered over 12 months. Both presented asymptomatically in the first trimester and were associated with hyperparathyroidism and hypertensive disease in current and previous gestations. Genetic testing ruled out familial hypocalciuric hypercalcemia, and both women required surgical management in the second trimester for control of hypercalcemia. The literature on the diagnosis and management of hypercalcemia in pregnancy is reviewed, and the challenges and pitfalls are discussed. Hypercalcemia in pregnancy requires a high index of suspicion for early diagnosis, and young women with unexplained hypertension in early pregnancy should be investigated for secondary causes, including hypercalcemia and primary hyperparathyroidism. Management of hypercalcemia secondary to primary hyperparathyroidism requires multidisciplinary team management, and surgery should be considered if the patient has not responded to conservative measures, ideally in the second trimester.
PubMed: 38356696
DOI: 10.1016/j.crwh.2024.e00586 -
The Annals of Thoracic Surgery Aug 2023Truncus arteriosus repair is associated with higher morbidity and mortality compared with many other congenital heart operations. We sought to determine factors...
BACKGROUND
Truncus arteriosus repair is associated with higher morbidity and mortality compared with many other congenital heart operations. We sought to determine factors associated with mortality and adverse outcomes in infants undergoing truncus arteriosus repair.
METHODS
We used the Pediatric Health Information System Database to identify infants aged < 90 days who underwent truncus arteriosus repair from 2004 to 2019. The primary outcome was hospital mortality. Secondary outcomes were prolonged postoperative length of stay (>30 days) and hospital readmission within 90 days. Multivariable logistic regression models were used to identify associated factors for adverse outcomes.
RESULTS
A total of 1645 subjects were included. Hospital mortality occurred in 164 (10%). Factors independently associated with mortality included birth weight < 3 kg, admit age < 48 hours, truncal valve surgery, cardiac arrest, extracorporeal membrane oxygenation, acute kidney injury, cardiac catheterization, tracheostomy, and earlier era. Prolonged postoperative length of stay occurred in 508 patients (31%). Factors independently associated with prolonged postoperative length of stay included prematurity, DiGeorge syndrome, admit age < 48 hours, later surgical era, acute kidney injury, infection, cardiac catheterization, vocal cord paralysis, tracheostomy, and gastrostomy. Readmission within 90 days occurred in 511 of 1481 surviving patients (34%). DiGeorge syndrome, cleft lip/palate, cardiac catheterization, and extracorporeal membrane oxygenation were factors independently associated with hospital readmission.
CONCLUSIONS
We identified multiple factors associated with hospital mortality and adverse outcomes in infants undergoing truncus arteriosus repair. This information is useful for quality improvement initiatives, perioperative counseling, and discharge planning.
Topics: Infant; Humans; Child; Cardiac Surgical Procedures; Cleft Lip; DiGeorge Syndrome; Truncus Arteriosus; Cleft Palate; Heart Defects, Congenital; Acute Kidney Injury
PubMed: 37489397
DOI: 10.1016/j.athoracsur.2022.10.020