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3.
AACE Clin Case Rep ; 8(2): 54-57, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35415233

RESUMO

Objective: The treatment of Camurati-Engelmann disease (CED) involves the use of glucocorticoids, analgesics, and bisphosphonates; experience with the use of losartan is limited. Our objective was to describe the case of a patient diagnosed with CED whose symptoms remained refractory while on steroids and bisphosphonates and who was successfully treated with losartan. Case Report: A 27-year-old woman presented with bone pain involving her extremities and large joints for 1 year. Clinical examination revealed bone tenderness and proximal myopathy with elevated C-terminal peptide of type 1 collagen (1617 pg/mL; normal range, 137-573 pg/mL) and N-terminal propeptide of type 1 procollagen levels (163 ng/mL; normal range, 5.1-58.3 ng/mL). Calcium (9.4 mg/dL; normal range, 8.3-10.4 mg/dL), phosphate (3.4 mg/dL; normal range, 2.5-4.5 mg/dL), and parathyroid hormone (62 pg/mL; normal range, 8-80 pg/mL) levels were within the normal range. Radiographs showed hyperostosis involving the diaphyseal region of long bones of the lower and upper limbs, and a provisional diagnosis of CED was made. She was treated with prednisolone, 30 mg daily, with which she reported some improvement. As exogenous Cushing syndrome had developed in her because of prednisolone, its dose was tapered. Subsequently, her bone pain worsened. Thereafter, she was initiated on oral alendronate. Due to persistent pain, losartan was added, after which she had marked decrease in bone pain with a reduction in the C-terminal peptide of type 1 collagen (375 pg/mL) and N-terminal propeptide of type 1 procollagen (50 ng/mL) levels. Discussion: Occasionally, CED presents therapeutic challenges, and when its symptoms remain refractory to conventional doses of steroids and bisphosphonates, other options may be needed. The abovementioned patient was initiated on losartan, which acts by downregulation of transforming growth factor ß1, leading to the reduction in pain. Conclusion: Losartan downregulates transforming growth factor ß1 and may be offered as a steroid-sparing option in individuals diagnosed with CED if symptoms remain refractory to conventional treatment.

4.
J Family Med Prim Care ; 9(8): 4451-4453, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33110883

RESUMO

Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipoprotein metabolism caused by defects in the low-density lipoprotein receptor (LDLR) gene. It is characterized by high low-density lipoprotein (LDL) cholesterol levels, premature cardiovascular disease (CVD), and tendon xanthomas. We present the case of a 26-year-old gentleman who presented with multiple nodular eruptions over the extensor aspects of upper and lower limbs and was diagnosed as FH on the basis of positive family history, typical lipid profile abnormalities, and biopsy of the nodule consistent with tendon xanthomas. The diagnosis and management of this case is deftly feasible at the primary care level.

5.
BMJ Case Rep ; 13(9)2020 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-32933912

RESUMO

Functioning thoracic paraganglioma (PGL) is rare in clinical practice. We present a 33-year-old man with this pathology, who came with right-sided chest pain and was found to have a right-sided paravertebral mass. Fine needle aspiration cytology revealed a PGL. Urine normetanephrine was elevated and meta- iodobenzylguanidine scan showed increased tracer uptake in the right hemithorax, suggestive of a functioning neuroendocrine tumour. The patient was subjected to right PGL excision by video-assisted thoracoscopic surgery, after adequate preoperative preparations. The perioperative period was uneventful, except for a transient rise in blood pressure during the surgery. His blood pressure continued to be normal in the postoperative period. In any patient with a paravertebral mass, the possibility of PGL should be kept in mind even if the patient is normotensive. Making a preoperative diagnosis is important, because excision of functioning PGL without adequate preoperative preparation may be detrimental.


Assuntos
Paraganglioma/patologia , Paraganglioma/cirurgia , Neoplasias Torácicas , Adulto , Humanos , Masculino , Neoplasias Torácicas/patologia , Neoplasias Torácicas/cirurgia
6.
Arch Osteoporos ; 15(1): 82, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-32483672

RESUMO

This study from southern India showed that FRAX® with or without BMD or TBS predicted fragility vertebral fractures at a cut-off of ≥ 9% for major osteoporotic fracture and ≥ 2.5% for hip fracture with sensitivities of 77-88% and specificities of 55-72%. PURPOSE: There is limited information available with regard to utility of Fracture Risk Assessment Tool (FRAX® tool) in predicting fragility fractures in Indian postmenopausal women. We studied the performance of 3 categories: FRAX® (without BMD), FRAX® (with BMD), and FRAX® (with BMD and TBS) in predicting fragility vertebral fractures in rural postmenopausal women. MATERIAL AND METHODS: It was a cross-sectional study conducted at a south Indian tertiary care center. Rural postmenopausal women (n = 301) were recruited by simple random sampling. The risk for major osteoporotic fracture (MOF) and hip fracture (HF) was calculated individually for the 3 categories. The BMD (at lumbar spine and femoral neck) and vertebral fractures were assessed by a DXA (dual energy X-ray absorptiometry) scanner and TBS by TBS iNsight software. ROC curves were constructed, and area under curve (AUC), sensitivity and specificity of FRAX® scores, which would best predict prevalent vertebral fractures (moderate to severe), was computed. RESULTS: The mean (SD) age was 65.6(5.1) years. The prevalence of osteoporosis at spine was 45%, and femoral neck was 32.6%. Moderate to severe vertebral fractures was seen in 29.2% of subjects. The performance of all 3 categories for FRAX® (MOF) and FRAX® (HF) were good (AUC was 0.798, 0.806, and 0.800, respectively, for MOF) at a cut-off score of ≥ 9, and at a cut-off of ≥ 2.5 for HF, it was 0.818, 0.775, and 0.770, respectively. At these cut-offs, sensitivities were 77-89%, and specificities were 55-72% for predicting prevalent vertebral fractures. CONCLUSION: All three categories of FRAX® showed good performance in predicting fractures in Indian postmenopausal women. Thus, it may be utilized for decision regarding treatment and referral for osteoporosis.


Assuntos
Vida Independente , Absorciometria de Fóton , Densidade Óssea , Estudos Transversais , Feminino , Humanos , Índia/epidemiologia , Fraturas por Osteoporose/diagnóstico por imagem , Fraturas por Osteoporose/epidemiologia , Pós-Menopausa , Medição de Risco , Fatores de Risco
8.
J Family Med Prim Care ; 8(5): 1798-1800, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31198763

RESUMO

Exogenous steroid use is the most common cause of Cushing syndrome. With the use of glucocorticoids(GC) for a variety of diseases, the indiscriminate use of this group of drugs has increased. We present a family from which both children were brought with features suggestive of Cushing syndrome. On evaluation, they were found to have suppressed hypothalamic pituitary adrenal (HPA) axis, signifying steroid use from exogenous sources. On further evaluation by a psychiatrist, the mother who was on treatment for chronic depression confessed that she had bought dexamethasone tablets over the counter, and administered the same, mixed with fruit juices to her sons. The family was counselled regarding the consequences of chronic steroid abuse and the children were started on replacement doses of prednisolone. Certain features like posterior subcapsular cataract, glaucoma, avascular necrosis of femur and psychosis are specific to exogenous Cushing syndrome. Despite efforts to understand the effects of long-term steroid treatment on the HPA axis, it is not yet clear as to which patients will have prolonged HPA axis suppression. The time taken for the recovery of HPA axis remains variable. Also, HPA axis suppression due to exogenous steroids may present as acute adrenal crisis. Hence, it is important to start these patients on replacement dose of steroids and also educate them regarding the increased requirement of steroids during stress.

10.
BMJ Case Rep ; 12(3)2019 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-30878966

RESUMO

Oncogenic osteomalacia is a potentially curable condition caused by phosphaturic mesenchymal tumours. We present the case of 54-year-old woman who presented with bony pains and muscle weakness, and was erroneously treated with bisphosphonates elsewhere on the basis of Dual Energy X-ray Absorptiometry (bone density) scan that showed 'severe osteoporosis'. Further evaluation revealed the presence of hypophosphatemia, with a 1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic acid avid lesion involving left mandible on PET scan. Surgical excision of lesion led to improvement in her symptoms with normalisation of phosphorus, and histopathology was diagnostic of mesenchymal phosphaturic tumour. A diagnosis of oncogenic osteomalacia was made. A repeat bone mineral density assessment done a year later showed dramatic improvement. A meticulous examination and evaluation is warranted for any patient presenting with bony pains and muscle weakness. The detection of hypophosphatemia in an elderly individual should prompt the consideration of oncogenic osteomalacia, as localisation and excision of tumour usually results in cure.


Assuntos
Neoplasias de Tecido Conjuntivo/diagnóstico , Biomarcadores/sangue , Feminino , Fator de Crescimento de Fibroblastos 23 , Fatores de Crescimento de Fibroblastos/sangue , Humanos , Mandíbula/diagnóstico por imagem , Mandíbula/cirurgia , Pessoa de Meia-Idade , Near Miss , Neoplasias de Tecido Conjuntivo/complicações , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias de Tecido Conjuntivo/cirurgia , Osteomalacia , Osteoporose Pós-Menopausa/complicações , Síndromes Paraneoplásicas , Tomografia por Emissão de Pósitrons
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