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PubMed:23824322 JSONTXT 11 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-93 Sentence denotes Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor:
T1 0-93 Sentence denotes Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor:
TextSentencer_T2 94-149 Sentence denotes Is a Bartter-like syndrome a feature of congenital SIR?
T2 94-149 Sentence denotes Is a Bartter-like syndrome a feature of congenital SIR?
TextSentencer_T3 150-329 Sentence denotes Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS).
T3 150-329 Sentence denotes Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS).
TextSentencer_T4 330-548 Sentence denotes At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals classified as RMS can reach adult age.
T4 330-548 Sentence denotes At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals classified as RMS can reach adult age.
TextSentencer_T5 549-680 Sentence denotes INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR).
T5 549-680 Sentence denotes INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR).
TextSentencer_T6 681-776 Sentence denotes We studied the INSR gene in five subjects with congenital SIR and in a patient with type A SIR.
T6 681-776 Sentence denotes We studied the INSR gene in five subjects with congenital SIR and in a patient with type A SIR.
TextSentencer_T7 777-1017 Sentence denotes Nine biallelic INSR gene mutations (eight novels, including an in-frame deletion of INSR signal peptide) were identified in patients with congenital SIR; a heterozygous, spontaneous INSR mutation was detected in the patient with type A SIR.
T7 777-1017 Sentence denotes Nine biallelic INSR gene mutations (eight novels, including an in-frame deletion of INSR signal peptide) were identified in patients with congenital SIR; a heterozygous, spontaneous INSR mutation was detected in the patient with type A SIR.
TextSentencer_T8 1018-1212 Sentence denotes Two probands, presenting severe hirsutism at birth, died at the age of 3 months and were classified as DS, while other 2, currently 2 and 3 years old, were diagnosed with RMS (patients 3 and 4).
T8 1018-1212 Sentence denotes Two probands, presenting severe hirsutism at birth, died at the age of 3 months and were classified as DS, while other 2, currently 2 and 3 years old, were diagnosed with RMS (patients 3 and 4).
TextSentencer_T9 1213-1275 Sentence denotes The fifth patient with congenital SIR died when 14 months old.
T9 1213-1275 Sentence denotes The fifth patient with congenital SIR died when 14 months old.
TextSentencer_T10 1276-1454 Sentence denotes Nephrocalcinosis, hyperaldosteronism, hyperreninemia, and hypokalemia, in the absence of hypertension, were discovered in patients 3 and 5 when 24 and 4 months old, respectively.
T10 1276-1454 Sentence denotes Nephrocalcinosis, hyperaldosteronism, hyperreninemia, and hypokalemia, in the absence of hypertension, were discovered in patients 3 and 5 when 24 and 4 months old, respectively.
TextSentencer_T11 1455-1574 Sentence denotes Patient 3, now 3 years/3 months old, still shows hyperreninemic hyperaldosteronism requiring potassium supplementation.
T11 1455-1574 Sentence denotes Patient 3, now 3 years/3 months old, still shows hyperreninemic hyperaldosteronism requiring potassium supplementation.
TextSentencer_T12 1575-1751 Sentence denotes We conclude that renal abnormalities resembling antenatal Bartter's syndrome type II, recently reported also by others, is a common observation in patients with congenital SIR.
T12 1575-1751 Sentence denotes We conclude that renal abnormalities resembling antenatal Bartter's syndrome type II, recently reported also by others, is a common observation in patients with congenital SIR.