Thymus transplantation for complete DiGeorge syndrome: European experience [PDF]
Background: Thymus transplantation is a promising strategy for the treatment of athymic complete DiGeorge syndrome (cDGS). Methods: Twelve patients with cDGS were transplanted with allogeneic cultured thymus.
Adrian J. Thrasher+59 more
core +2 more sources
A novel homozygous mutation of the AIRE gene in an APECED patient from Pakistan: case report and review of the literature [PDF]
Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene.
Bellacchio, Emanuele+5 more
core +2 more sources
Hypoparathyroidism: Early Detection and Diagnosis Approaches [PDF]
Hypoparathyroidism is an endocrine disorder characterized by low or absent production of parathyroid hormone (PTH). The most common cause of hypoparathyroidism is injury to the parathyroid glands or unintentional removal during thyroid surgery.
Shafa, Rizqina Alya
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Total thyroidectomy associated to chemotherapy in primary squamous cell carcinoma of the thyroid [PDF]
Primary squamous cell carcinoma of the thyroid (PSCCT) is a rare malignant disease with rapid fatal prognosis. The onset is generally characterized by sudden bilateral latero-cervical lymphadenopathy.
De Cesare, A+6 more
core +1 more source
The Epidemiology of Hypoparathyroidism in Italy: An 8-Year Register-Based Study [PDF]
Hypoparathyroidism is a rare endocrine disorder, but few studies have focused on the epidemiology and hospital management of the disease and none has been performed in Italy.
Biamonte, F+8 more
core +1 more source
Hypoparathyroidism in pregnancy [PDF]
Hypoparathyroidism is an uncommon endocrine deficiency characterised by low serum calcium, absent or inappropriately low parathyroid hormone and normal or high serum phosphorus levels. Parathyroid hormone is essential for calcium homoeostasis. Pregnancy and lactation are known for increased calcium requirement.
Krupa H Shah+3 more
openaire +3 more sources
Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea [PDF]
Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous.
Alice Hyun Kyung Tan+24 more
core +2 more sources
Parathyroid transplantation in thyroid surgery [PDF]
Permanent hypoparathyroidism following thyroid surgery is rare. Its prevalence is reported to be below 1–2% if surgery is performed by experienced thyroid surgeons.
core +1 more source
Abstract Background Hypoparathyroidism is a rare endocrine disorder characterized by hypocalcemia and low or undetectable levels of parathyroid hormone. Methods This review is an evidence-based summary of hypoparathyroidism in terms ...
openaire +3 more sources
Clinical profile and quality of life scores in Chronic Hypoparathyroidism: a transversal retrospective study [PDF]
Introduction: In patients with hypoparathyroidism, conventional therapy maintains parathyroid hormone (PTH)-dependent mineral metabolism homeostasis but is unable to prevent emergence of comorbidities and low quality of life. Objectives: To evaluate long-
Braucks, Gisele Rieffel+7 more
core +1 more source