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Cyanosis and hepatic disease

MedGen UID:
387820
•Concept ID:
C1857443
•
Disease or Syndrome
Synonym: Cyanosis and Hepatic Disease
 
Monarch Initiative: MONDO:0009057
OMIM®: 219400

Clinical features

From HPO
Clubbing
MedGen UID:
57692
•Concept ID:
C0149651
•
Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
See: Feature record | Search on this feature
Hepatitis
MedGen UID:
5515
•Concept ID:
C0019158
•
Disease or Syndrome
Inflammation of the liver.
See: Feature record | Search on this feature
Abnormal abdomen morphology
MedGen UID:
866551
•Concept ID:
C4020869
•
Anatomical Abnormality
A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
See: Feature record | Search on this feature
Dyspnea
MedGen UID:
3938
•Concept ID:
C0013404
•
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
See: Feature record | Search on this feature
Cyanosis
MedGen UID:
1189
•Concept ID:
C0010520
•
Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Diagnosis and treatment of congenital tuberculosis: a systematic review of 92 cases.
Li C, Liu L, Tao Y
Orphanet J Rare Dis 2019 Jun 10;14(1):131. doi: 10.1186/s13023-019-1101-x. PMID: 31182120Free PMC Article
Cyanosis: pathophysiology and differential diagnosis.
Blount SG Jr
Prog Cardiovasc Dis 1971 May;13(6):595-605. doi: 10.1016/s0033-0620(71)80005-1. PMID: 4933007
Transposition of the great arteries: recognition and management.
Fisher E, Paul MH
Cardiovasc Clin 1970;2(1):211-30. PMID: 4106589

Recent clinical studies

Etiology

A retrospective study of 51 pediatric cases of traumatic asphyxia.
Luo HR, Zhai X, Xie SM, Jin X
J Cardiothorac Surg 2022 Mar 13;17(1):34. doi: 10.1186/s13019-022-01773-2. PMID: 35282839Free PMC Article
Diagnosis and treatment of congenital tuberculosis: a systematic review of 92 cases.
Li C, Liu L, Tao Y
Orphanet J Rare Dis 2019 Jun 10;14(1):131. doi: 10.1186/s13023-019-1101-x. PMID: 31182120Free PMC Article
Intestinal Involvement in Kawasaki Disease.
Colomba C, La Placa S, Saporito L, Corsello G, Ciccia F, Medaglia A, Romanin B, Serra N, Di Carlo P, Cascio A
J Pediatr 2018 Nov;202:186-193. Epub 2018 Jul 17 doi: 10.1016/j.jpeds.2018.06.034. PMID: 30029859
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P
Orphanet J Rare Dis 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. PMID: 21599942Free PMC Article
Hypoglycemia in infants and children.
Haymond MW
Endocrinol Metab Clin North Am 1989 Mar;18(1):211-52. PMID: 2645128

Diagnosis

Abernethy Malformation: Possible Diagnosis for Patients with Congenital Heart Disease and Persistent Cyanosis.
Brun MM, Cardoso MR, Borim BC, Marchi CH, Croti UA
Braz J Cardiovasc Surg 2023 Apr 23;38(2):300-304. doi: 10.21470/1678-9741-2022-0110. PMID: 36259992Free PMC Article
Diagnosis and treatment of congenital tuberculosis: a systematic review of 92 cases.
Li C, Liu L, Tao Y
Orphanet J Rare Dis 2019 Jun 10;14(1):131. doi: 10.1186/s13023-019-1101-x. PMID: 31182120Free PMC Article
Intestinal Involvement in Kawasaki Disease.
Colomba C, La Placa S, Saporito L, Corsello G, Ciccia F, Medaglia A, Romanin B, Serra N, Di Carlo P, Cascio A
J Pediatr 2018 Nov;202:186-193. Epub 2018 Jul 17 doi: 10.1016/j.jpeds.2018.06.034. PMID: 30029859
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P
Orphanet J Rare Dis 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. PMID: 21599942Free PMC Article
Eclampsia.
Patwardhan VB
J Indian Med Assoc 1995 Feb;93(2):58-9, 48. PMID: 7658039

Therapy

Intestinal Involvement in Kawasaki Disease.
Colomba C, La Placa S, Saporito L, Corsello G, Ciccia F, Medaglia A, Romanin B, Serra N, Di Carlo P, Cascio A
J Pediatr 2018 Nov;202:186-193. Epub 2018 Jul 17 doi: 10.1016/j.jpeds.2018.06.034. PMID: 30029859
Diversity and severity of adverse reactions to quinine: A systematic review.
Liles NW, Page EE, Liles AL, Vesely SK, Raskob GE, George JN
Am J Hematol 2016 May;91(5):461-6. Epub 2016 Apr 4 doi: 10.1002/ajh.24314. PMID: 26822544
Detection of hepatopulmonary syndrome in patients with liver cirrhosis using 3D contrast echocardiography.
Gaber R, Ziada DH, Kotb NA, Abo El-Magd GH, Hamisa M
Arab J Gastroenterol 2012 Mar;13(1):14-9. Epub 2012 Mar 31 doi: 10.1016/j.ajg.2012.03.004. PMID: 22560819
Hypoglycemia in infants and children.
Haymond MW
Endocrinol Metab Clin North Am 1989 Mar;18(1):211-52. PMID: 2645128
Sulphasalazine: a 'new' antirheumatic drug.
Pullar T, Capell HA
Br J Rheumatol 1984 Feb;23(1):26-34. doi: 10.1093/rheumatology/23.1.26. PMID: 6141832

Prognosis

A retrospective study of 51 pediatric cases of traumatic asphyxia.
Luo HR, Zhai X, Xie SM, Jin X
J Cardiothorac Surg 2022 Mar 13;17(1):34. doi: 10.1186/s13019-022-01773-2. PMID: 35282839Free PMC Article
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P
Orphanet J Rare Dis 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. PMID: 21599942Free PMC Article
Hepatopulmonary syndrome - past to present.
Varghese J, Ilias-basha H, Dhanasekaran R, Singh S, Venkataraman J
Ann Hepatol 2007 Jul-Sep;6(3):135-42. PMID: 17786138
Eclampsia.
Patwardhan VB
J Indian Med Assoc 1995 Feb;93(2):58-9, 48. PMID: 7658039
Systemic argyria.
Prescott RJ, Wells S
J Clin Pathol 1994 Jun;47(6):556-7. doi: 10.1136/jcp.47.6.556. PMID: 8063942Free PMC Article

Clinical prediction guides

A retrospective study of 51 pediatric cases of traumatic asphyxia.
Luo HR, Zhai X, Xie SM, Jin X
J Cardiothorac Surg 2022 Mar 13;17(1):34. doi: 10.1186/s13019-022-01773-2. PMID: 35282839Free PMC Article
Intestinal Involvement in Kawasaki Disease.
Colomba C, La Placa S, Saporito L, Corsello G, Ciccia F, Medaglia A, Romanin B, Serra N, Di Carlo P, Cascio A
J Pediatr 2018 Nov;202:186-193. Epub 2018 Jul 17 doi: 10.1016/j.jpeds.2018.06.034. PMID: 30029859
Normal and abnormal pulmonary arteriovenous shunting: occurrence and mechanisms.
Hoffman JI
Cardiol Young 2013 Oct;23(5):629-41. Epub 2013 Mar 5 doi: 10.1017/S1047951113000140. PMID: 23458130
Pseudo-blue lunula and beyond: a normal variant.
Siddiqui Y, Rashid RM
Skinmed 2010 Nov-Dec;8(6):363-4. PMID: 21413656
Hepatopulmonary syndrome - past to present.
Varghese J, Ilias-basha H, Dhanasekaran R, Singh S, Venkataraman J
Ann Hepatol 2007 Jul-Sep;6(3):135-42. PMID: 17786138

Recent systematic reviews

Diagnosis and treatment of congenital tuberculosis: a systematic review of 92 cases.
Li C, Liu L, Tao Y
Orphanet J Rare Dis 2019 Jun 10;14(1):131. doi: 10.1186/s13023-019-1101-x. PMID: 31182120Free PMC Article
Diversity and severity of adverse reactions to quinine: A systematic review.
Liles NW, Page EE, Liles AL, Vesely SK, Raskob GE, George JN
Am J Hematol 2016 May;91(5):461-6. Epub 2016 Apr 4 doi: 10.1002/ajh.24314. PMID: 26822544

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