Addison disease as presenting manifestation of one patient with adrenoleukodystrophy and identification of a novel ABCD1 gene mutation / 中华内分泌代谢杂志

Objective@#To identify the clinical manifestations, imaging findings, and genetic mutation characteristics in a rare case of adrenoleukodystrophy(ALD)with adrenocortical dysfunction(Addison′s disease)as the first manifestation.@*Methods@#The clinical data of the proband and his family members were comprehensively collected, and ABCDl gene sequencing was meticulously performed for the proband and his mother using high-throughput sequencing method.@*Results@#The patient presented with systematical skin pigmentation accompanied by fatigue in early stage, arose stroke-like episodes manifested as a sudden loss of consciousness and incontinence induced by high fever, and followed by progressive unclear speech, unstable walking and worsening vision. Serum very long-chain fatty acid(VLCFA)concentration increased over normal range. The brain MRI showed an abnormal signal of the symmetric distribution of the bilateral corpus callosum. A new c. 874_876del GAG hemizygous variation in the patient′s ABCD1 gene was detected, while his mother had a nucleotide heterozygous variation to this site .@*Conclusion@#The diagnosis of ALD requires a combination of clinical manifestations, imaging examination, and serum VLCFA level measurement, while the detection of ABCD1 gene mutations is considered to be the most reliable approach.

One case of adrenoleukodystrophy with initial Addison disease and identification of a novel ABCD1 gene mutation / 中华内分泌代谢杂志

Objective To identify the clinical manifestations, imaging findings, and genetic mutation characteristics in an uncommon case of adrenoleukodystrophy ( ALD) with adrenocortical dysfunction ( Addison's disease) as the first manifestation. Methods The clinical data of the proband and his family members were comprehensively collected, and ABCDl gene sequencing was meticulously performed for the proband and his mother using high-throughput sequencing method. Results The patient presented with systematical skin pigmentation accompanied by fatigue in early stage, arose stroke-like episodes manifested as a sudden loss of consciousness and incontinence induced by high fever, and followed by progressive unclear speech, unstable walking and worsening vision. Serum very long-chain fatty acid (VLCFA) concentration increased over normal range. The brain MRI showed an abnormal signal of the symmetric distribution of the bilateral corpus callosum. A new c. 874 876del GAG hemizygous variation in the patient's ABCD1 gene was detected, while his mother had a nucleotide heterozygous variation to this site . Conclusion The diagnosis of ALD requires a combination of clinical manifestations, imaging examination, and serum VLCFA levels, while the detection of ABCD1 gene mutations is considered to be the most reliable approach.

Expression of miR-134 in breast cancer and its relationship with epithelial-mesenchymal tran-sition / 临床与实验病理学杂志

Purpose To investigate the expression of miR-134 in breast carcinoma and its c1inica1 significance,and to ana1yze the as-sociation between its expression with bio-markers of epithe1ia1-mesenchyma1 transition( EMT). Methods The expression of miR-134 in 97 breast cancer samp1es was detected by in situ hybridization and the expression of E-cadherin,N-cadherin,and vimentin was de-tected by MaxVision two-step method of immunohistochemistry,to ana1yze the re1ationship between their expression and c1inicopatho1og-ica1 characteristics. Results The expression of miR-134 in breast cancer was negative1y associated with higher histo1ogica1 grade, HER-2 overexpression,1ow expression of E-cadherin as we11 as high expression of N-cadherin and vimentin. Both 1ow-expression of E-cadherin and up-expression of N-cadherin and vimentin in breast cancer were positive1y corre1ated with higher histo1ogica1 grade,1ymph node invo1vement and HER-2 overexpression,whi1e negative1y associated with the expression of ER and PR. Conclusion The expres-sion of miR-134 in breast cancer tissue is negative1y re1ated to both the ma1ignant progression and EMT,indicating that it might be a potentia1 bio-marker for breast cancer.