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Journal of Intellectual Disability... Sep 2023Most individuals with 22q11.2 deletion syndrome (22q11DS) have multi-system and lifelong needs requiring substantial support. Their primary caregivers are usually family...
BACKGROUND
Most individuals with 22q11.2 deletion syndrome (22q11DS) have multi-system and lifelong needs requiring substantial support. Their primary caregivers are usually family members who dedicate lifelong time and effort to their role. The pressures of their roles can negatively impact caregivers' psychosocial well-being, suggesting a need for additional support for this community who currently have no specialised interventions available.
METHOD
This online study surveyed 103 caregivers of family members with 22q11DS to determine the barriers to accessing support that they faced, the kind of support they would value and whether an online intervention could meet their needs.
RESULTS
The caregivers indicated that a brief online intervention focused on teaching practical skills and connecting them with a peer network of support would be most valuable.
CONCLUSIONS
Future studies are planned that will build on these results by designing and testing online interventions tailored to this community.
Topics: Humans; Caregivers; Family; DiGeorge Syndrome; Surveys and Questionnaires; Peer Group
PubMed: 37449408
DOI: 10.1111/jir.13061 -
Journal of Clinical Medicine Apr 2024Hypocalcemia is a common occurrence in pediatric patients, attributed to various causes and presenting with diverse clinical manifestations. A prompt evaluation is... (Review)
Review
Hypocalcemia is a common occurrence in pediatric patients, attributed to various causes and presenting with diverse clinical manifestations. A prompt evaluation is necessary to determine its underlying cause, whether it presents acutely or chronically, and to tailor treatment based on its severity. Among the potential causes of chronic hypocalcemia, primary hypoparathyroidism stands out. The case of a seven-year-old male patient with hypocalcemia reported in this article serves as an illustration, wherein targeted next-generation sequencing revealed a homozygous p.R257X mutation in the gene, indicative of autoimmune polyendocrine syndrome type 1 (APS-1). It poses challenges due to its multisystemic nature and involvement of specific autoantibodies, often leading to underdiagnosis, owing to its rarity, varied manifestations, and incomplete penetrance. A comprehensive review of the APS-1 literature was conducted to provide insights into the clinical manifestations, genetic spectrum, potential immunological mechanisms, and current medical strategies. Additionally, the recognition of gene mutations is crucial for facilitating genetic diagnosis, prognosis, and potential treatment strategies for APS-1. The management of such cases involves individualized approaches to treatment, regular monitoring, medication adjustments, and the early identification of associated conditions.
PubMed: 38673639
DOI: 10.3390/jcm13082368 -
Journal of Clinical Research in... Dec 2023Autoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic...
Autoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autosomal recessive autoimmune disease. It is caused by mutations in the autoimmune regulator () gene. APS-1 is diagnosed clinically by the presence of two of the three major components: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenocortical insufficiency. A 3.3-year-old girl was presented with a carpopedal spasm to the pediatric emergency clinic. She had a history of recurrent keratitis, and chronic candidiasis as urinary tract infections and oral thrashes. Hypoparathyroidism (HPT) was diagnosed based on low serum concentrations of calcium and parathyroid hormone and elevated serum concentrations of phosphate, and treatment with calcium and calcitriol supplementation was started. Genetic testing revealed homozygosity for nonsense c.769C>T (p.R257X) mutation in exon 6 in the gene which was reported previously. At the age of 5.6 years, she was presented with an adrenal crisis, and treatment with hydrocortisone and fludrocortisone was started. The reported case highlights that unexplained chronic keratitis in children may be the first and most severe component of this syndrome. The classic triad of APS-1 may also appear in the first decade of life.
PubMed: 38084036
DOI: 10.4274/jcrpe.galenos.2023.2023-9-17 -
Langenbeck's Archives of Surgery Feb 2024To assess the impact of fine-needle aspiration cytology (FNAC) in the extent of surgery in patients with thyroid cancer (TC) and the associated surgical morbidity in...
PURPOSE
To assess the impact of fine-needle aspiration cytology (FNAC) in the extent of surgery in patients with thyroid cancer (TC) and the associated surgical morbidity in primary and completion setting.
METHODS
A Swedish nationwide cohort of patients having surgery for TC (n = 2519) from the Scandinavian Quality Register for Thyroid, Parathyroid and Adrenal surgery between 2004 and 2013 was obtained. Data was validated through scrutinizing FNAC and histology reports.
RESULTS
Among the 2519 cases operated for TC, the diagnosis was substantiated and validated through the histology report in 2332 cases (92.6%). Among these, 1679 patients (72%) were female, and the median age at TC diagnosis was 52.3 years (range 18-94.6). Less than total thyroidectomy (LTT) was undertaken in 944 whereas total thyroidectomy (TT) in 1388 cases. The intermediate FNAC categories of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/ FLUS), as well as suspicion for follicular neoplasm (SFN) lesions were more often encountered in LTT (n = 314, 33.3%) than TT (n = 63, 4.6%), whereas FNACs suspicion for malignancy and/or malignancy were overrepresented in TT (n = 963, 69.4%). Completion thyroidectomies were undertaken in 553 patients out of 944 that initially had LTT. In 201 cases with cancer lesions > 1 cm, other than FTC (Follicular TC)/ HTC (Hürthle cell TC) subjected to primary LTT, inadequate procedures were undertaken in 81 due to absent, Bethesda I or II FNAC categories, preoperatively. Complications at completion of surgery in this particular setting were 0.5% for RLN palsy (n = 1) and 1% (n = 2) for hypoparathyroidism 6 months postoperatively. The overall postoperative complication rate was higher in primary TT vs. LTT for RLN palsy (4.8% [n = 67] vs. 2.4% [n = 23]; p = 0.003) and permanent hypoparathyroidism (6.8% [n = 95] vs. 0.8% [n = 8]; p < 0.0001).
CONCLUSIONS
FNAC results appear to affect surgical planning in TC as intermediate FNAC categories lead more often to LTT. Overall, inadequate procedures necessitating completion surgery are encountered in up to 15% of TC patients subjected to LTT due to absent, inconclusive, or misleading FNAC, preoperatively. However, completion of thyroidectomy in this setting did not yield significant surgical morbidity. Primary LTT is a safer primary approach compared to TT in respect of RLN palsy and permanent hypoparathyroidism complication rates; therefore, primary TT should probably be reserved for lesions > 1 cm or even larger with suspicion for malignancy or malignant FNAC.
Topics: Humans; Female; Adolescent; Young Adult; Adult; Middle Aged; Aged; Aged, 80 and over; Male; Thyroidectomy; Biopsy, Fine-Needle; Retrospective Studies; Thyroid Neoplasms; Adenocarcinoma, Follicular; Morbidity; Paralysis; Hypoparathyroidism; Thyroid Nodule
PubMed: 38374242
DOI: 10.1007/s00423-024-03258-3 -
AME Case Reports 2024Coronavirus disease 2019 (COVID-19) infection has been associated with various endocrinopathies. Few literatures have reported cases of transient hypoparathyroidism in...
BACKGROUND
Coronavirus disease 2019 (COVID-19) infection has been associated with various endocrinopathies. Few literatures have reported cases of transient hypoparathyroidism in acute COVID-19 infections, or even exacerbation of hypocalcaemia in previously known hypoparathyroidism patients. The mechanism of hypocalcaemia in COVID-19 infection remains unclear.
CASE DESCRIPTION
Our patient is a young gentleman who was incidentally diagnosed with superior mesenteric artery (SMA) syndrome and symptomatic primary hypoparathyroidism while presenting with an acute COVID-19 infection. He initially presented with high-grade fever, followed by multiple episodes of vomiting and abdominal pain and subsequently hypocalcaemic symptoms such as tonic-clonic seizures and carpopedal spasms. A computed tomographic scan of his abdomen revealed a SMA syndrome while his blood investigation showed a parathyroid hormone (PTH)-dependent hypocalcaemia. His SMA syndrome was a result of severe malnourishment and improved with refeeding, but his primary hypoparathyroidism persisted despite having recovered for 6 months from the initial COVID-19 infection. There was no evidence to suggest a congenital cause of hypoparathyroidism.
CONCLUSIONS
To the best of our knowledge this is the first case report that describe this unique case of persistent primary hypoparathyroidism related to COVID-19 infection. Parathyroid gland involvement in a COVID-19 infection is rare but not impossible. Further studies are needed to determine the mechanism and extent of damage of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) to the parathyroid glands.
PubMed: 38711895
DOI: 10.21037/acr-23-106 -
The British Journal of Surgery Nov 2023Techniques for autofluorescence have been introduced to visualize the parathyroid glands during surgery and to reduce hypoparathyroidism after thyroidectomy. (Randomized Controlled Trial)
Randomized Controlled Trial
Impact of autofluorescence for detection of parathyroid glands during thyroidectomy on postoperative parathyroid hormone levels: parallel multicentre randomized clinical trial.
BACKGROUND
Techniques for autofluorescence have been introduced to visualize the parathyroid glands during surgery and to reduce hypoparathyroidism after thyroidectomy.
METHODS
This parallel multicentre RCT investigated the use of Fluobeam® LX to visualize the parathyroid glands by autofluorescence during total thyroidectomy compared with no use. There was no restriction on the indication for surgery. Patients were randomized 1 : 1 and were blinded to the group allocation. The hypothesis was that autofluorescence enables identification and protection of the parathyroid glands during thyroidectomy. The primary endpoint was the rate of low parathyroid hormone (PTH) levels the day after surgery.
RESULTS
Some 535 patients were randomized, and 486 patients received an intervention according to the study protocol, 246 in the Fluobeam® LX group and 240 in the control group. Some 64 patients (26.0 per cent) in the Fluobeam® LX group and 77 (32.1 per cent) in the control group had low levels of PTH after thyroidectomy (P = 0.141; relative risk (RR) 0.81, 95 per cent c.i. 0.61 to 1.07). Subanalysis of 174 patients undergoing central lymph node clearance showed that 15 of 82 (18 per cent) in the Fluobeam® LX group and 31 of 92 (33 per cent) in the control group had low levels of PTH on postoperative day 1 (P = 0.021; RR 0.54, 0.31 to 0.93). More parathyroid glands were identified during operation in patients who had surgery with Fluobeam® LX, and fewer parathyroid glands in the surgical specimen on definitive histopathology. No specific harm related to the use of Fluobeam® LX was reported.
CONCLUSION
The use of autofluorescence during thyroidectomy did not reduce the rate of low PTH levels on postoperative day 1 in the whole group of patients. It did, however, reduce the rate in a subgroup of patients. Registration number: NCT04509011 (http://www.clinicaltrials.gov).
Topics: Humans; Parathyroid Glands; Thyroidectomy; Parathyroid Hormone; Hypoparathyroidism; Lymph Nodes; Postoperative Complications; Hypocalcemia
PubMed: 37758507
DOI: 10.1093/bjs/znad278 -
Scandinavian Journal of Surgery : SJS :... Mar 2024Studies on the outcomes of parathyroid surgery are scarce. The aim was to report the outcomes and to study the association between pre- and peri-operative information...
BACKGROUND AND OBJECTIVE
Studies on the outcomes of parathyroid surgery are scarce. The aim was to report the outcomes and to study the association between pre- and peri-operative information with the outcomes of patients operated for primary hyperparathyroidism.
METHODS
This was a retrospective, descriptive study with unselected patients treated surgically for primary hyperparathyroidism from a catchment population of 704,500 in Finland. Data were acquired from the electronic hospital registers based on parathyroid surgery procedure codes between 1 January 2017 and 31 December 2018. Preoperative data, surgical data, preoperative and postoperative laboratory values, histopathological findings, and postoperative clinical data were recorded.
RESULTS
During the 2-year study period, 149 patients with primary hyperparathyroidism were treated surgically with a 97% remission rate. Surgical complications included postoperative bleeding in two patients (1%) and vocal cord paralysis in one patient (0.6%). No postoperative infections were reported. Three patients (2%) developed postoperative hypoparathyroidism necessitating the use of alfacalcidol more than 1 month after surgery. Ionized calcium measured 0-1 days after surgery was not statistically significantly associated with remission or postoperative hypoparathyroidism. Serum parathyroid hormone (PTH) assessed 0-1 days postoperatively was associated with persistent disease, but not with postoperative hypoparathyroidism. The histopathological diagnosis was adenoma or hyperplasia in 112 patients (75%), atypical adenoma in 28 patients (19%), and carcinoma in five patients (3%). Patients with parathyroid carcinoma had higher preoperative ionized calcium and PTH values than those with adenoma or hyperplasia.
CONCLUSIONS
Most patients who were operated due to primary hyperparathyroidism achieved normocalcemia after surgery, and the frequency of complications was low. Ionized calcium taken 0-1 days after surgery was not associated with remission of hyperparathyroidism or postoperative hypoparathyroidism. High postoperative serum PTH predicted persistent disease.
PubMed: 38433618
DOI: 10.1177/14574969241228409 -
The British Journal of Surgery Jan 2024Patients with thyroid carcinoma often undergo cervical lymph node dissection, which is associated with high rates of both transient and permanent postoperative...
Impact of near-infrared fluorescence imaging plus indocyanine green fluorescence on postoperative hypoparathyroidism rates after total thyroidectomy and central neck lymph node dissection.
BACKGROUND
Patients with thyroid carcinoma often undergo cervical lymph node dissection, which is associated with high rates of both transient and permanent postoperative hypoparathyroidism. The impact of near-infrared fluorescence imaging + indocyanine green (ICG) fluorescence on postoperative hypoparathyroidism rates after total thyroidectomy and central neck lymph node dissection was evaluated.
METHODS
All patients undergoing surgery between January 2019 and March 2023 were included and divided into three groups: a control group (parathyroid glands identified visually), a near-infrared fluorescence imaging alone group, and a near-infrared fluorescence imaging + ICG fluorescence group. The primary outcome was the transient and permanent postoperative hypoparathyroidism rates. Secondary outcomes were: length of surgery and number of parathyroid glands identified, inadvertently resected, and autotransplanted.
RESULTS
A total of 131 patients were included in the study (47 in the control group, 45 in the near-infrared fluorescence imaging alone group, and 39 in the near-infrared fluorescence imaging + ICG fluorescence group). The transient hypoparathyroidism rate was 48.9% in the control group, 37.8% in the near-infrared fluorescence imaging alone, and 5.1% in the near-infrared fluorescence imaging + ICG fluorescence group (P < 0.0001), while the permanent hypoparathyroidism rate was 8.5% in the control group, 2.2% in the near-infrared fluorescence imaging alone group, and 0% in the near-infrared fluorescence imaging + ICG fluorescence group (P = 0.096). The number of parathyroid glands identified was 159 of 188 in the control group, 165 of 180 in the near-infrared fluorescence imaging alone group, and 149 of 156 in the near-infrared fluorescence imaging + ICG fluorescence group (P = 0.002). Inadvertent resection of parathyroid glands occurred for 29 of 188 in the control group, 15 of 180 in the near-infrared fluorescence imaging alone group, and 7 of 156 in the near-infrared fluorescence imaging + ICG fluorescence group (P = 0.002), with subsequent parathyroid gland autotransplantation for 2 of 29 in the control group, 2 of 15 in the near-infrared fluorescence imaging alone group, and 3 of 7 in the near-infrared fluorescence imaging + ICG fluorescence group (P = 0.040). There was no difference in the median operating time between groups.
CONCLUSION
The use of near-infrared fluorescence imaging + ICG fluorescence decreased both transient and permanent hypoparathyroidism rates in patients undergoing total thyroidectomy and central neck lymph node dissection.
Topics: Humans; Thyroidectomy; Indocyanine Green; Hypoparathyroidism; Parathyroid Glands; Neck Dissection; Lymph Node Excision; Postoperative Complications; Optical Imaging
PubMed: 38381933
DOI: 10.1093/bjs/znae022 -
European Journal of Psychotraumatology 202422q11 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome with broad phenotypic variability, leading to significant morbidity and some mortality. The...
22q11 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome with broad phenotypic variability, leading to significant morbidity and some mortality. The varied health problems associated with 22q11DS and the evolving phenotype (both medical and developmental/behavioural) across the lifespan can strongly impact the mental health of patients as well as their caregivers. Like caregivers of children with other chronic diseases, caregivers of children with 22q11DS may experience an increased risk of traumatisation and mental health symptoms. The study's primary objective was to assess the frequency of traumatic experiences and mental health symptoms among mothers of children with 22q11DS. The secondary objective was to compare their traumatic experiences to those of mothers of children with other neurodevelopmental disorders (NDDs). A total of 71 mothers of children diagnosed with 22q11DS completed an online survey about their mental health symptoms and traumatic experiences. Descriptive statistics were used to summarise the prevalence of their mental health symptoms and traumatic experiences. Logistic regression models were run to compare the traumatic experiences of mothers of children with 22q11DS to those of 335 mothers of children with other neurodevelopmental disorders (NDDs). Many mothers of children with 22q11DS experienced clinically significant mental health symptoms, including depression (39%), anxiety (25%), and post-traumatic stress disorder (PTSD) symptoms (30%). The types of traumatic events experienced by mothers of children with 22q11DS differed from those of mothers of children with other NDDs as they were more likely to observe their child undergoing a medical procedure, a life-threatening surgery, or have been with their child in the intensive care unit. 22q11DS caregivers are likely to require mental health support and trauma-informed care, tailored to the specific needs of this population as they experience different kinds of traumatic events compared to caregivers of children with other NDDS.
Topics: Humans; Female; Mothers; Adult; Child; Male; Surveys and Questionnaires; Mental Health; Stress Disorders, Post-Traumatic; 22q11 Deletion Syndrome; Adolescent; Neurodevelopmental Disorders; Middle Aged; Caregivers
PubMed: 38780146
DOI: 10.1080/20008066.2024.2353532 -
The Journal of Thoracic and... Sep 2023Neonates with tetralogy of Fallot and pulmonary atresia (TOF/PA) but no major aorta-pulmonary collaterals are dependent on the arterial duct for pulmonary blood flow and...
OBJECTIVE
Neonates with tetralogy of Fallot and pulmonary atresia (TOF/PA) but no major aorta-pulmonary collaterals are dependent on the arterial duct for pulmonary blood flow and require early intervention, either by primary (PR) or staged repair (SR) with initial palliation (IP) followed by complete repair (CR). The optimal approach has not been established.
METHODS
Neonates with TOF/PA who underwent PR or SR were retrospectively reviewed from the Congenital Cardiac Research Collaborative. Outcomes were compared between PR and SR (IP + CR) strategies. Propensity scoring was used to adjust for baseline differences. The primary outcome was mortality. Secondary outcomes included complications, length of stay, cardiopulmonary bypass and anesthesia times, reintervention (RI), and pulmonary artery (PA) growth.
RESULTS
Of 282 neonates, 106 underwent PR and 176 underwent SR (IP: 144 surgical, 32 transcatheter). Patients who underwent SR were more likely to have DiGeorge syndrome and greater rates of mechanical ventilation before the initial intervention. Mortality was not significantly different. Duration of mechanical ventilation, inotrope use, and complication rates were similar. Cumulative length of stay, cardiopulmonary bypass, and anesthesia times favored PR (P ≤ .001). Early RI was more common in patients who underwent SR (rate ratio, 1.42; P = .003) but was similar after CR (P = .837). Conduit size at the time of CR was larger with SR. Right PA growth was greater with PR.
CONCLUSIONS
In neonates with TOF/PA, SR is more common in greater-risk patients. Accounting for this, SR and PR strategies have similar mortality. Perioperative morbidities, RI, and right PA growth generally favor PR, whereas SR allows for larger initial conduit implantation.
Topics: Infant, Newborn; Humans; Infant; Tetralogy of Fallot; Pulmonary Atresia; Retrospective Studies; Aorta; DiGeorge Syndrome; Pulmonary Artery; Treatment Outcome
PubMed: 36828672
DOI: 10.1016/j.jtcvs.2023.01.008