Introduction: Gitelman Syndrome (GS), a rare autosomal recessive inherited disorder, is frequently unrecognized in the clinical setting. GS typically manifests with severe hypokalemia with debilitating and potentially fatal consequences if untreated. As of writing, confirmatory genetic assays are currently unavailable in the country, and the diagnosis of GS is primarily based on several biochemical laboratory tests. This results in the difficulty with prompt diagnosis of GS in the locality. Case: We present a 52-year-old male who came in with chronic, intermittent paraparesis associated with persistent hypokalemia. A diagnosis of GS was made biochemically based on renal wasting of potassium and magnesium, hypocalciuria, and metabolic alkalosis. Electrolyte correction with lifelong supplementation, and administration of Spironolactone resulted in the resolution of bilateral leg weakness. Electrolyte levels were maintained within normal limits in the outpatient setting. Conclusion GS is an uncommon potentially debilitating disorder that may lead to problematic, potentially fatal consequences to electrolyte abnormalities if left untreated. The lack of awareness and consequent delay in the diagnosis, and the unavailability of confirmatory genetic testing remains a clinical challenge. Timely recognition and initiation of treatment leads to early control of electrolyte levels, and better prognosis.
Gitelman&rsquo ; s Syndrome ; Paraparesis ; Hypokalemia ; Hypomagnesemia ; Spironolactone ; Case Report

Sheehan's syndrome is a rare complication of post-partum hemorrhage that has decreased in incidence in the past decade due to better obstetrical practices, although still seen in developing countries. This is a case of a 31-year-old Gravida 1 Para 1 (1-0-0-0) with a 1-year history of enlarging maxillary sinus mass, where an incidental finding of an empty sella in an MRI with contrast was noted. The patient had amenorrhea of 15 years and received no medications for her undiagnosed Sheehan's syndrome incurred during her first and only pregnancy. The patient's cardiomyopathy and organizing hematoma may be rare complications of Sheehan's syndrome. Patients, laymen, health practitioners, and traditional birth attendants should be informed of these complications. Treatment should be individualized and administered after diagnosing a patient with Sheehan's syndrome to prevent complications such as adrenal insufficiency, hypothyroidism, infertility, and seen in this case, acute heart failure and possibly organizing hematoma.

PURPOSE: To determine the prevalence of thrombophilia in Korean patients with an arterial thromboembolism (ATE) or a venous thromboembolism (VTE), and to evaluate the characteristic of VTE in patients with thrombophilia. METHODS: Hospital records of 294 patients (228 with VTE, 66 with ATE) including two foreign ones (mean age, 51.4 years) who underwent thrombophilia testing between August 2006 and March 2015 were reviewed retrospectively. In general, such screening was performed according to the guidelines of the international consensus statement for VTE. Thrombophilia testing included evaluations of the factor V Leiden and prothrombin G20210A mutations, levels of proteins C and S and antithrombin, and antiphospholipid antibody syndrome (APLS). RESULTS: A factor V Leiden mutation was not found in the 292 Korean patients. A prothrombin G21210A mutation was investigated in 33 patients but none was found. Among 226 Korean patients with VTE, 130 demonstrated no thrombophilia and 55 patients did after exclusion of 41 patients without confirmatory test. The most common form was protein S deficiency (31 of 55, 56%) followed by protein C deficiency, antithrombin deficiency, and APLS. When comparing patients with a VTE or deep vein thrombosis (DVT) according to the presence of thrombophilia, thrombophilia was associated with younger age (P = 0.001 for VTE; P < 0.001 for DVT) and a family history (P < 0.001 for VTE and DVT). CONCLUSION: We did not find any factor V Leiden mutation in Korean subjects at high risk for thrombophilia. Therefore, this testing is not warranted. Thrombophilia was associated with VTE in younger age and a family history.
Antiphospholipid Syndrome ; Consensus ; Factor V ; Hospital Records ; Humans ; Korea ; Mass Screening ; Prevalence ; Protein C Deficiency ; Protein S Deficiency ; Prothrombin ; Retrospective Studies ; Thromboembolism* ; Thrombophilia* ; Venous Thromboembolism ; Venous Thrombosis

Intracranial embolization usually arises from the heart, a vertebrobasilar artery, a carotid artery, or the aorta, but rarely from the distal subclavian artery upstream of an embolus. We report on a patient who experienced left shoulder and forearm pain with weak blood pressure and pulse followed by concurrent onset of left hemiplegia. This case is a rare example of multiple cerebral embolic infarctions, which developed as a complication of distal subclavian artery thrombosis possibly associated with protein S deficiency.
Aorta ; Arteries ; Blood Pressure ; Carotid Arteries ; Embolism ; Forearm ; Heart ; Hemiplegia ; Humans ; Infarction ; Protein S Deficiency ; Shoulder ; Subclavian Artery ; Thoracic Outlet Syndrome ; Thrombosis

Intracranial embolization usually arises from the heart, a vertebrobasilar artery, a carotid artery, or the aorta, but rarely from the distal subclavian artery upstream of an embolus. We report on a patient who experienced left shoulder and forearm pain with weak blood pressure and pulse followed by concurrent onset of left hemiplegia. This case is a rare example of multiple cerebral embolic infarctions, which developed as a complication of distal subclavian artery thrombosis possibly associated with protein S deficiency.
Aorta ; Arteries ; Blood Pressure ; Carotid Arteries ; Embolism ; Forearm ; Heart ; Hemiplegia ; Humans ; Infarction ; Protein S Deficiency ; Shoulder ; Subclavian Artery ; Thoracic Outlet Syndrome ; Thrombosis

Previously, we reviewed biological evidence that mercury could induce autoimmunity and coronary arterial wall relaxation as observed in Kawasaki syndrome (KS) through its effects on calcium signaling, and that inositol 1,4,5-triphosphate 3-kinase C (ITPKC) susceptibility in KS would predispose patients to mercury by increasing Ca2+ release. Hg2+ sensitizes inositol 1,4,5-triphosphate (IP3) receptors at low doses, which release Ca2+ from intracellular stores in the sarcoplasmic reticulum, resulting in delayed, repetitive calcium influx. ITPKC prevents IP3 from triggering IP3 receptors to release calcium by converting IP3 to inositol 1,3,4,5-tetrakisphosphate. Defective IP3 phosphorylation resulting from reduced genetic expressions of ITPKC in KS would promote IP3, which increases Ca2+ release. Hg2+ increases catecholamine levels through the inhibition of S-adenosylmethionine and subsequently catechol-O-methyltransferase (COMT), while a single nucleotide polymorphism of the COMT gene (rs769224) was recently found to be significantly associated with the development of coronary artery lesions in KS. Accumulation of norepinephrine or epinephrine would potentiate Hg2+-induced calcium influx by increasing IP3 production and increasing the permeability of cardiac sarcolemma to Ca2+. Norepinephrine and epinephrine also promote the secretion of atrial natriuretic peptide, a potent vasodilator that suppresses the release of vasoconstrictors. Elevated catecholamine levels can induce hypertension and tachycardia, while increased arterial pressure and a rapid heart rate would promote arterial vasodilation and subsequent fatal thromboses, particularly in tandem. Genetic risk factors may explain why only a susceptible subset of children develops KS although mercury exposure from methylmercury in fish or thimerosal in pediatric vaccines is nearly ubiquitous. During the infantile acrodynia epidemic, only 1 in 500 children developed acrodynia whereas mercury exposure was very common due to the use of teething powders. This hypothesis mirrors the leading theory for KS in which a widespread infection only induces KS in susceptible children. Acrodynia can mimic the clinical picture of KS, leading to its inclusion in the differential diagnosis for KS. Catecholamine levels are often elevated in acrodynia and may also play a role in KS. We conclude that KS may be the acute febrile form of acrodynia.
Acrodynia ; Arterial Pressure ; Autoimmunity ; Calcium ; Calcium Signaling ; Catechol O-Methyltransferase ; Catecholamines ; Child ; Coronary Vessels ; Diagnosis, Differential ; Epinephrine ; Heart Rate ; Humans ; Hydrazines ; Hypertension ; Inositol ; Inositol 1,4,5-Trisphosphate ; Inositol 1,4,5-Trisphosphate Receptors ; Inositol Phosphates ; Mucocutaneous Lymph Node Syndrome ; Norepinephrine ; Permeability ; Phosphorylation ; Polymorphism, Single Nucleotide ; Powders ; Relaxation ; Risk Factors ; S-Adenosylmethionine ; Sarcolemma ; Sarcoplasmic Reticulum ; Tachycardia ; Thimerosal ; Thrombosis ; Tooth ; Tooth Eruption ; Vaccines ; Vasoconstrictor Agents ; Vasodilation

Budd-Chiari syndrome (BCS) is a rare disorder that arises from obstruction of the hepatic venous outflow tract. BCS causes various clinical status from liver cirrhosis and other systemic diseases that are usually fatal. BCS is caused by hypercoagulability, e.g, arising from malignancy, oral contraceptives, and deficiency of protein S or C. It is not rare that BCS often shows venous thrombosis, including in superior vena cava. We performed a cardiac anesthesia for a 44 year old male with BCS and total superior vena cava syndrome (SVCS) due to the hereditary protein S and C deficiency. Surgical relief of the hepatic outflow stenosis was performed during deep hypothermic circulatory arrest. The patient was managed successfully without conventional intraoperative hemodynamic monitoring such as central venous catheterization, pulmonary artery catheterization, or transesophageal echocardiography due to underlying SVCS and the risk of varix bleeding. After weaning of cardiopulmonary bypass, mild acidosis and hypoxia improved slowly in an intensive care unit. Hypercoagulability was controlled by warfarin during the first postoperative day.
Acidosis ; Anesthesia ; Anoxia ; Budd-Chiari Syndrome ; Cardiopulmonary Bypass ; Catheterization, Central Venous ; Catheterization, Swan-Ganz ; Central Venous Catheters ; Circulatory Arrest, Deep Hypothermia Induced ; Constriction, Pathologic ; Contraceptives, Oral ; Echocardiography, Transesophageal ; Heart ; Hemodynamics ; Hemorrhage ; Humans ; Intensive Care Units ; Liver Cirrhosis ; Male ; Protein S ; Superior Vena Cava Syndrome ; Thoracic Surgery ; Thrombophilia ; Varicose Veins ; Vena Cava, Superior ; Venous Thrombosis ; Warfarin ; Weaning

Budd-Chiari syndrome (BCS) represents a spectrum of disease states resulting in hepatic venous outflow occlusion. Prothrombotic disorders, such as protein S deficiency may cause thrombosis of the portal and hepatic veins. We report the management of a 30-year-old BCS primigravida with protein S deficiency and destroyed lung by the pulmonary tuberculosis scheduled for Cesarean section. Moreover, patient's lungs were destroyed by the pulmonary tuberculosis. Spinal anesthesia was selected for the anesthetic management. The patient recovered without any complication and discharged from hospital on the fifth postoperative day.
Adult ; Anesthesia, Spinal ; Budd-Chiari Syndrome ; Cesarean Section ; Female ; Hepatic Veins ; Humans ; Lung ; Pregnancy ; Protein S Deficiency ; Thrombosis ; Tuberculosis, Pulmonary

PURPOSE: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. MATERIALS AND METHODS: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. RESULTS: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). CONCLUSION: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase ; Abortion, Spontaneous ; Alleles ; Aneuploidy ; Child ; Down Syndrome ; Female ; Ferredoxin-NADP Reductase ; Fetus ; Genotype ; Humans ; Intellectual Disability ; Methionine ; Mothers ; Odds Ratio ; Oxidoreductases ; Pregnancy ; Risk Factors

OBJECTIVE: To investigate the clinical significance of thrombophilia in patients admitted with ovarian hyperstimulation syndrome (OHSS). METHODS: Twenty-five infertile women who were admitted into university hospital due to OHSS after ovarian hyperstimulation for intrauterine insemination or in vitro fertilization. Blood samples were drawn at the time of admission and three thrombophilic factors were assayed; antithrombin III, protein C and protein S. Subjects were divided into severe (n=18) and mild-to-moderate (n=7) OHSS, and laboratory parameters including three thrombophilic factors were compared. RESULTS: Antithrombin III level was abnormal in 40% of subjects, protein C in 12%, and protein S in 72%. There was no significant difference in the laboratory parameters between the patients with normal (n=15) and abnormal antithrombin III levels (n=10). However, the patients with abnormal antithrombin III levels had significantly more severe OHSS than those with normal value (100% vs 55.6%, P=0.013). The patients with at least one abnormal thrombophilic factor had significantly more severe OHSS than those with all normal value (94.4% vs 42.9%, P=0.012). CONCLUSIONS: Thrombophilic factors, particularly antithrombin III, may be associated with disease severity in patients with OHSS.
Antithrombin III ; Female ; Fertilization in Vitro ; Humans ; Insemination ; Ovarian Hyperstimulation Syndrome ; Protein C ; Protein S ; Reference Values ; Thrombophilia