Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review
CONCLUSION: Interestingly enough, the present case represents, to our knowledge, the first report of a patient with DGLS associated with hypoparathyroidism and the presence of thyroid nodules where an intraoperative observation reported a non-functional parathyroid gland.PMID:37986268 | DOI:10.2174/0118715303274582231102094440 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - November 21, 2023 Category: Endocrinology Authors: Claudio Spinelli Marco Ghionzoli Carla Guglielmo Giampiero Baroncelli Nina Tyutyusheva Alessia Frega Armando Patrizio Poupak Fallahi Silvia Martina Ferrari Alessandro Antonelli Source Type: research
Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review
CONCLUSION: Interestingly enough, the present case represents, to our knowledge, the first report of a patient with DGLS associated with hypoparathyroidism and the presence of thyroid nodules where an intraoperative observation reported a non-functional parathyroid gland.PMID:37986268 | DOI:10.2174/0118715303274582231102094440 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - November 21, 2023 Category: Drugs & Pharmacology Authors: Claudio Spinelli Marco Ghionzoli Carla Guglielmo Giampiero Baroncelli Nina Tyutyusheva Alessia Frega Armando Patrizio Poupak Fallahi Silvia Martina Ferrari Alessandro Antonelli Source Type: research
Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review
CONCLUSION: Interestingly enough, the present case represents, to our knowledge, the first report of a patient with DGLS associated with hypoparathyroidism and the presence of thyroid nodules where an intraoperative observation reported a non-functional parathyroid gland.PMID:37986268 | DOI:10.2174/0118715303274582231102094440 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - November 21, 2023 Category: Endocrinology Authors: Claudio Spinelli Marco Ghionzoli Carla Guglielmo Giampiero Baroncelli Nina Tyutyusheva Alessia Frega Armando Patrizio Poupak Fallahi Silvia Martina Ferrari Alessandro Antonelli Source Type: research
Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review
CONCLUSION: Interestingly enough, the present case represents, to our knowledge, the first report of a patient with DGLS associated with hypoparathyroidism and the presence of thyroid nodules where an intraoperative observation reported a non-functional parathyroid gland.PMID:37986268 | DOI:10.2174/0118715303274582231102094440 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - November 21, 2023 Category: Drugs & Pharmacology Authors: Claudio Spinelli Marco Ghionzoli Carla Guglielmo Giampiero Baroncelli Nina Tyutyusheva Alessia Frega Armando Patrizio Poupak Fallahi Silvia Martina Ferrari Alessandro Antonelli Source Type: research
Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review
CONCLUSION: Interestingly enough, the present case represents, to our knowledge, the first report of a patient with DGLS associated with hypoparathyroidism and the presence of thyroid nodules where an intraoperative observation reported a non-functional parathyroid gland.PMID:37986268 | DOI:10.2174/0118715303274582231102094440 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - November 21, 2023 Category: Endocrinology Authors: Claudio Spinelli Marco Ghionzoli Carla Guglielmo Giampiero Baroncelli Nina Tyutyusheva Alessia Frega Armando Patrizio Poupak Fallahi Silvia Martina Ferrari Alessandro Antonelli Source Type: research
Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review
CONCLUSION: Interestingly enough, the present case represents, to our knowledge, the first report of a patient with DGLS associated with hypoparathyroidism and the presence of thyroid nodules where an intraoperative observation reported a non-functional parathyroid gland.PMID:37986268 | DOI:10.2174/0118715303274582231102094440 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - November 21, 2023 Category: Drugs & Pharmacology Authors: Claudio Spinelli Marco Ghionzoli Carla Guglielmo Giampiero Baroncelli Nina Tyutyusheva Alessia Frega Armando Patrizio Poupak Fallahi Silvia Martina Ferrari Alessandro Antonelli Source Type: research
A rare case of 2q37 deletion syndrome presented with patent foramen ovale
In this case of 2q37 deletion syndrome and PFO, we highlight the effectiveness of physical therapy in managing such cases. Both thorough clinical examination and proper diagnostic tests are essential. AbstractThis case report presents a 3-year-old female child diagnosed with 2q37 deletion syndrome and patent foramen ovale, and the improvement in hypotonia and gross motor delay after 1 year of physical therapy. This case highlights the importance of thorough examination and diagnostic testing in identifying underlying causes of developmental delays. (Source: Clinical Case Reports)
Source: Clinical Case Reports - November 20, 2023 Category: General Medicine Authors: Ahmed Zaki,
Nour Shaheen,
Mohamed Hosny,
Abdelraouf Ramadan,
Abdulqadir J. Nashwan Tags: CASE REPORT Source Type: research
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - November 20, 2023 Category: Genetics & Stem Cells Authors: Xiaorui Xie, Baojia Huang, Linjuan Su, Meiying Cai, Yuqin Chen, Xiaoqing Wu and Liangpu Xu Tags: Research Source Type: research
Head and neck INI1-deficient carcinoma without primary: a case report
ConclusionResearch of INI1 deletion should be performed for undifferentiated carcinoma of young patients because of possibilities of molecular therapies such as autophagy inhibitors or proteasome inhibitors could be used in clinical trials. (Source: Journal of Medical Case Reports)
Source: Journal of Medical Case Reports - November 17, 2023 Category: General Medicine Source Type: research
Case Report: Diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome with diabetic gastroparesis
ConclusionWe report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden the genetic mutation spectrum of this condition. With the help of gene detection technology, these findings can assist endocrinologists in making the correct diagnosis of MODY5 or 17q12 deletion syndrome. Additionally, they can formulate an appropriate therapy and conduct genetic screening counseling for their family members to guide and optimize fertility. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - November 14, 2023 Category: Endocrinology Source Type: research
High-resolution PGT-A results in incidental identification of patients with small pathogenic copy number variants
ConclusionHigh-throughput high-resolution SNP array –based PGT-A has the ability to detect previously unknown and clinically significant parental deletions, duplications, and translocations. The use of cost-effective SNP array–based PGT-A methods may improve the effectiveness of PGT by identifying and preventing previously unknown pathogenic CNVs in children born to patients seeking in vitro fertilization. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - November 14, 2023 Category: Reproduction Medicine Source Type: research
