Congenital Methemoglobinemia

03/01/2016 - "Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment."
01/01/2018 - "We report a novel variant of congenital methemoglobinemia that deteriorated after methylene blue treatment."
01/01/2018 - "A new mutation of congenital methemoglobinemia exacerbated after methylene blue treatment."
10/01/2005 - "Methylene blue in congenital methemoglobinemia: prophylactic or on demand?"
03/01/2005 - "Prophylactic methylene blue in a patient with congenital methemoglobinemia."

01/01/1972 - "Congenital methemoglobinemia due to hemoglobin M."
01/01/2019 - "Hemoglobin M (Hb M) disease is one type of congenital methemoglobinemia characterized by cyanosis. "
06/01/2008 - "Hemoglobin M variant and congenital methemoglobinemia: methylene blue will not be effective in the presence of hemoglobin M."
02/01/2008 - "Hemoglobin M variant and congenital methemoglobinemia: methylene blue will not be effective in the presence of hemoglobin M."
10/01/2021 - "Anesthetic experience: congenital methemoglobinemia due to hemoglobin M."

01/01/2018 - "However, even after the patient's methemoglobin (metHb) rate has improved, careful observation is important because they could have undiagnosed congenital methemoglobinemia. "
08/01/2005 - "Her methemoglobin level was measured as 51%, and a diagnosis of congenital methemoglobinemia was established. "
09/01/1976 - "Biochemical and functional properties of methemoglobin diaphorase in congenital methemoglobinemia."
05/01/1963 - "The reduction of methemoglobin in erythrocytes of a patient with congenital methemoglobinemia, subjects with erythrocyte glucose-6-phosphate dehydrogenase deficiency, and normal individuals."
03/01/2005 - "The prophylactic preoperative methylene blue administration in a patient with congenital methemoglobinemia significantly decreased the methemoglobin level and increased the fractional oxygen saturation with a consequent increase of the safety margin against perioperative hypoxemia."

01/12/1962 - "[Study of a family with congenital methemoglobinemia caused by reductase insufficiency]."
01/01/1992 - "RBC reductase measurement was within normal limits, ruling out congenital methemoglobinemia. "
10/01/2022 - "Congenital methemoglobinemia due to cytochrome b5 reductase deficiency is very rare, but the actual incidence is not known. "
04/01/2019 - "Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene."
03/02/2018 - "Upon extensive review of English literature for cases of congenital methemoglobinemia due to deficiency of cytochrome b5 reductase, we found 23 cases diagnosed as type I (including the case reported here). "

01/01/1967 - "[Studies on congenital methemoglobinemia due to a dificiency of methemoglobin reductase in the red blood cells]."
01/01/2018 - "Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene."
12/01/2015 - "A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II."
08/15/2012 - "Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH-cytochrome b5 reductase (cb5r) deficiency. "
07/01/2009 - "A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia."

06/01/1977 - "Congenital methemoglobinemia and hemoglobin M disease were excluded by appropriate laboratory studies. "
01/01/2019 - "Congenital methemoglobinemia is a rare condition caused by cytochrome b5 reductase deficiency, cytochrome b5 deficiency, or hemoglobin M disease. "

05/01/1994 - "A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism."
10/02/1986 - "Congenital methemoglobinemia with cytochrome b5 deficiency."
03/20/1986 - "Congenital methemoglobinemia with a deficiency of cytochrome b5."
10/01/2022 - "Congenital methemoglobinemia due to cytochrome b5 reductase deficiency is very rare, but the actual incidence is not known. "
04/01/2019 - "Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene."

01/01/2006 - "The V252M mutation is present in the NADH-binding domain and associated with both types I and II recessive congenital methemoglobinemia. "
01/01/2002 - "NADH-MR deficiency leads to two different types of recessive congenital methemoglobinemia. "
01/01/2002 - "These three cases of congenital methemoglobinemia are due to type-I NADH-MR deficiency without mental retardation."
01/01/1972 - "[Congenital methemoglobinemia due to NADH (DPNH) dependent methemoglobin reductase deficiency]."
01/01/2018 - "In veterinary medicine, congenital methemoglobinemia associated with nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5R) deficiency is rare. "

01/01/2015 - "It is encoded by the CYB5R3 gene: there are two phenotypes of autosomal recessive congenital methemoglobinemia, in type II CYB5R deficiency is generalized and affects all cells, leading to an early onset, whereas in type I, the enzyme deficiency is restricted to erythrocytes, usually discovered in infancy but not exclusively. "
05/15/2000 - "We found a Chinese family with type 1 recessive congenital methemoglobinemia, the patients from which were diagnosed according to clinical symptoms and b5R enzyme activity in the blood cells. "
01/01/1981 - "The two forms of enzyme are specified by the same gene, in that both were found defective in six patients with recessive congenital methemoglobinemia. "
07/01/1973 - "An enzyme variation in a case of congenital methemoglobinemia."
10/01/1961 - "[Enzyme defect in congenital methemoglobinemia]."

07/01/2021 - "We present a three-year-old female who was diagnosed with congenital methemoglobinemia when she presented with peri-oral cyanosis and profound oxygen desaturation in the 20-30% range. "
01/01/2019 - "Congenital methemoglobinemia is a rare disease, resulting in increased oxygen affinity and impaired oxygen delivery to the tissues. "
05/01/2005 - "Congenital methemoglobinemia is a rare disease which is characterized by a brutal appearance, in early infancy, of a bluish skin color not regressing with oxygen inspiration, and by a good general state. "
09/01/2009 - "Avoidance of exposure to oxidizing agents is important for patients with congenital methemoglobinemia because of their deficient enzymatic pathways and decreased oxygen-carrying capacity. "
05/01/1999 - "Among the causes of life-long cyanosis are congenital methemoglobinemia due to M hemoglobins, congenital methemoglobinemia due to methemoglobin reductase deficiency, a small number of low oxygen affinity hemoglobins, and a small number of unstable hemoglobins that spontaneously form methemoglobin in vivo at an accelerated rate. "

03/01/2005 - "A 26-yr-old male patient known to have congenital methemoglobinemia was scheduled for turbinectomy under general anesthesia. "
10/01/2021 - "In the present case, a 35-year-old man with congenital methemoglobinemia underwent general anesthesia for thyroidectomy. "
09/01/2009 - "Here, we present a patient with preoperatively undiagnosed congenital methemoglobinemia who underwent uterine myomectomy under general anesthesia. "
04/14/2023 - "Congenital methemoglobinemia type 1. The patient underwent general anesthesia and cholesteatoma resection of the middle ear. "
04/14/2023 - "We report a case of congenital methemoglobinemia after middle ear cholesteatoma resection under general anesthesia. "

12/15/1961 - "[On long-term therapy of congenital methemoglobinemia]."
01/01/2018 - "In this case, methylene blue was used safely as an emergent therapy for congenital methemoglobinemia during pregnancy."
01/01/2012 - "In this paper we present a congenital methemoglobinemia case who was treated with bronchodilator therapy for a period of nearly five years because of misdiagnosis of asthma. "

06/01/2018 - "Low pulse oximetry readings after induction of anesthesia and before surgery led to the diagnosis of HbMIwate, a rare congenital methemoglobinemia due to mutation in the α-globin gene. "
03/01/2005 - "To report the beneficial effect of prophylactic methylene blue administration before induction of anesthesia in a patient with congenital methemoglobinemia. "
11/01/2001 - "Severe oxyhemoglobin desaturation during induction of anesthesia in a patient with congenital methemoglobinemia."

07/01/2017 - "A 24-year-old woman with previous undiagnosed congenital methemoglobinemia presented for the emergency cesarean section in view of fetal distress. "
07/01/2017 - "Anesthetic management of congenital methemoglobinemia in an emergency cesarean section."

09/01/2009 - "Here, we present a patient with preoperatively undiagnosed congenital methemoglobinemia who underwent uterine myomectomy under general anesthesia. "