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《Journal of Clinical Orthopaedics and Trauma》2020,11(2):298-301
Alagille Syndrome is a rare autosomal dominant genetic disorder, occur only 1:70,000 in population, and characterized by reduced interlobular bile ducts, and resultant nutritional deficiencies associated with the inability to absorb fat-soluble vitamins such as vitamin D. Patients are at risk for secondary osteoporosis, rickets/osteomalacia, and ultimately may result in fracture. The majority of patients suffer from chronic cholestasis, which can have a variety of adverse effects on bone metabolism. Hypothyroidism has been described in some Alagille Syndrome patients, and eventually delayed puberty can occur. Two until fourteen percents of patients of Alagille syndrome will suffer from fractures, in which it primarily occurs in the lower limb long bones in the absence of significant trauma. This study aimed to present a rare case of pathological fracture of femur in Alagille syndrome patient and its management in our hospital.Six-year-old male with pain on his right thigh came to our ER after fell down while putting on his pants. He had been diagnosed with biliary atresia at the age of 3 months and underwent surgical bile duct reconstruction. In addition, he also suffered from congenital hypothyroidism and consequently, stunted growth. The pathological fracture of the femur was treated conservatively with hemispica cast. At 2 months follow up, there is already radiographic evidence of fracture healing occurred by secondary intention and callus formation.By ensuring adequate calcium and vitamin D intake, monitoring for vitamin D deficiency, monitoring for fragility fractures, and avoiding trauma-related accidents, a proper conservative treatment using hemispica cast could still always be considered for managing such diaphyseal fractures in Alagille syndrome, especially in relatively low-resource countries such as Indonesia. 相似文献
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《Taiwanese journal of obstetrics & gynecology》2019,58(6):757-763
Many changes occur in the physiology of the maternal thyroid gland to maintain an adequate level of thyroid hormones (THs) at each stage of gestation during normal pregnancy, however, some factors can produce low levels of these hormones, which can alter the onset and progression of pregnancy. Deficiency of THs can be moderate or severe, and classified as overt or clinical hypothyroidism, subclinical hypothyroidism, and isolated hypothyroxinemia. Overt hypothyroidism has been reported in 0.3–1.9% and subclinical hypothyroidism in approximately 1.5–5% of pregnancies. With respect to isolated hypothyroxinemia, the frequency has been reported in approximately 1.3% of pregnant women, however it can be as high as 25.4%. Worldwide, iodine deficiency is the most common cause of hypothyroidism, however, in iodine-sufficient countries like the United States, the most common cause is autoimmune thyroiditis or Hashimoto's thyroiditis. The diagnosis and timely treatment of deficiency of THs (before or during the first weeks of gestation) can significantly reduce some of the related adverse effects, such as recurrent pregnancy loss, preterm delivery, gestational hypertension, and alterations in the offspring. However, so far there is no consensus on the reference levels of thyroid hormones during pregnancy to establish the diagnosis and there is no consensus on universal screening of women during first trimester of pregnancy to identify thyroid dysfunction, to give treatment and to reduce adverse perinatal events, so it is necessary to carry out specific studies for each population that provide information about it. 相似文献
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甲状腺功能减退症是一种常见的全身代谢减低的内分泌疾病,初诊很少发生在口腔颌面外科。因其症状无特异性,临床上极易漏诊、误诊,从而造成严重后果。本文报道1例以呼吸道阻塞、颌面部肿胀、贫血和双足水肿为主要特征的正颌术后严重甲状腺功能减退症病例,并结合文献,探讨甲状腺功能减退症的危险因素、临床表现、诊断及治疗。 相似文献
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Hyun Sook Hong Eun Hye Lee Sun Hye Jeong Jisang Park Heon Lee 《Korean journal of radiology》2015,16(2):419-429
Thyroid imaging is indicated to evaluate congenital hypothyroidism during newborn screening or in cases of a palpable thyroid mass in children and adolescents. This pictorial essay reviews the ultrasonography (US) of thyroid diseases in children and adolescents, including normal thyroid gland development, imaging features of congenital thyroid disorders (dysgenesis, [aplasia, ectopy, hypoplasia], dyshormonogenesis, transient hypothyroidism, thyroglossal duct cyst), diffuse thyroid disease (Grave''s disease, Hashimoto''s thyroiditis, and suppurative thyroiditis), and thyroid nodules. The primary imaging modalities for evaluating thyroid diseases are US and radionuclide scintigraphy. Additionally, US can be used to guide aspiration of detected nodules. 相似文献