PURPOSE: The purpose of this report is to organize the history of Korean Mothersafe, a professional teratology information center. Throughout its domestic and international activities, Mothersafe has firm role to write journals and books, to provide counseling, to run educational courses on maternal and fetal toxicology, and so on. This paper delineates the achievements in last ten years and discusses the vision of Mothersafe. METHODS: In order to formulate the accomplishments of Korean Mothersafe, the volume of counseling calls are carefully reviewed by their contents, counselees, and the consultation results, etc. Textbooks and journals based on the data from Mothersafe are evaluated. Other roles of the Mothersafe, such as hosting symposium and running public programs are also noted. RESULTS: Korean Mothersafe provided 76,555 counseling to 45,933 expectant women and 30,622 breast-feeding women. The database has total 52,130 enrollments from 2010 to 2019. A total of 33 papers are published regarding medication, alcohol, smoking, radiation, etc. A specialized book on maternal-fetal toxicology was published and teratology part of obstetrics textbook was updated. Education programs and symposiums were held and primary care programs for expectant parents are run by Mothersafe. CONCLUSION Korean Mothersafe has contributed to safe environments for numerous pregnant and breast-feeding women regarding medication, drinking, smoking, and other hazardous substances. The huge database provided evidence for researches, textbooks and seminars, etc. Korean Mothersafe is now facing a new challenge to go forward through social dynamics with many issues regarding prevention and continuance of pregnancy, abortion, and so on.

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a case of adult-onset FMF with complete symptomatic remission during pregnancy, without the use of colchicine. A 25-year-old woman had presented with periodic fever, abdominal pain, and vomiting since she was 21. Her abdominal computed tomography scan showed intestinal nonrotation. She underwent exploratory laparotomy and appendectomy for her symptoms 1 year prior. She had a symptom-free pregnancy period, but abdominal pain and fever recurred after delivery. Mutation analysis of the MEFV gene revealed two point mutations (p.Leu110Pro and p.Glu148Gln). We report an adult female patient with FMF in Korea with complete symptomatic remission during pregnancy.
Abdominal Pain ; Adult ; Appendectomy ; Chromosomes, Human, Pair 16 ; Colchicine ; Familial Mediterranean Fever* ; Female ; Fever ; Humans ; Korea ; Laparotomy ; Mediterranean Sea ; Point Mutation ; Pregnancy* ; Serositis ; Vomiting

Changes of serum electrolytes in patients with hyperthyroidism are often disregarded. Hypercalcemia has been reported in 17% to 50% of patients with hyperthyroidism. However, severe and symptomatic hypercalcemia is rare among patients with hyperthyroidism. We report a rare case of symptomatic hypercalcemia and hyperphosphatemia in a 31-year-old male patient who was diagnosed with hyperthyroidism. He visited our hospital with nausea, vomiting, and tremor. Thyroid function test showed severe thyrotoxicosis and serum calcium and phosphorus were elevated but parathyroid hormone was low, excluding primary hyperparathyroidism as the cause of hypercalcemia. Saline hydration with diuretics to lower serum calcium and antithyroid medication with lugol solution were administered for six days. But symptoms persisted and he was treated with intravenous pamidronate. Symptoms were relieved after resolution of hypercalcemia and hyperphosphatemia. The case suggests that severe and symptomatic hypercalcemia and hyperphosphatemia can complicate hyperthyroidism and early correction of hypercalcemia can relieve symptoms.
Adult ; Calcium ; Diuretics ; Electrolytes ; Humans ; Hypercalcemia* ; Hyperparathyroidism, Primary ; Hyperphosphatemia* ; Hyperthyroidism* ; Male ; Nausea ; Parathyroid Hormone ; Phosphorus ; Thyroid Function Tests ; Thyrotoxicosis ; Tremor ; Vomiting

Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by selective degeneration of motor neurons. Mutant superoxide dismutase 1 (SOD1) is often found as aggregates in the cytoplasm in motor neurons of various mouse models and familial ALS patients. The interplay between motor neurons and astrocytes is crucial for disease outcome, but the mechanisms underlying this phenomenon remain unknown. In this study, we investigated whether transient transfection with wild-type and mutant-type SOD1 may lead to amplification of mutant SOD1-mediated toxicity in cortical neurons and astrocytes derived from wild-type and mutant-type (human G93A-SOD1) mice. In transgenic mice expressing either wild- or mutant-type SOD1, we found that green fluorescent protein (GFP)-wtSOD1 was present in the cytoplasm and nuclei of wild-type cortical neurons and astrocytes, whereas GFP-mutant SOD1 was mainly cytoplasmic in wild- and mutant-type cortical neurons and astrocytes. These findings indicate that intracellular propagation of misfolding of GFP-wt or mtSOD1 are possible mediators of toxic processes involved in initiating mislocalization and aggregation. Here, we provide evidence that cytoplasmic aggregates induce apoptosis in G93A-SOD1 mouse cortical neurons and astrocytes and that the toxicity of mutant SOD1 in astrocytes is similar to the pathological effects of ALS on neurons in vitro. Collectively, our results indicate that mtSOD1 probably interacts with wtSOD1 via an unknown mechanism to produce augmented toxicity and may influence aggregate formation and apoptosis.
Amyotrophic Lateral Sclerosis ; Animals ; Apoptosis ; Astrocytes* ; Cytoplasm ; Humans ; Mice* ; Mice, Transgenic ; Motor Neurons ; Nervous System Diseases ; Neurons* ; Superoxide Dismutase ; Transfection*

Eosinophilic cholangiopathy is a rare disease characterized by dense transmural eosinophilic infiltration of the gallbladder and bile duct. It's clinical and laboratory manifestations are not different from those of other causes of cholangiopathy, and the diagnosis is usually made based on pathologic findings after cholecystectomy. Moreover, the occurrence of eosinophilic cystitis accompanied by cholangiopathy is extremely rare. We report a rare case of hypereosinophilic syndrome manifested as eosinophilic cholangiopathy accompanied with eosinophilic cystitis, for the first time in Korea, in a 49-year-old woman who presented with persistent right upper quadrant pain. After performing imaging study to validate the diagnosis of acute acalculous cholecystitis and cholangitis, an urgent cholecystectomy was performed. Pathologic examination of the excised gallbladder was consistent with eosinophilic cholecystitis. The patient underwent bladder biopsy because there was persistant irritative voiding symptoms combined with constant mild peripheral eosinophilia even after cholecystectomy, and the pathologic findings revealed eosinophilic cystitis. Symptoms and peripheral eosinophilia were improved after steroid therapy for an indicated period.
Acalculous Cholecystitis ; Bile Ducts ; Biopsy ; Cholangitis ; Cholecystectomy ; Cholecystitis ; Cystitis* ; Diagnosis ; Eosinophilia ; Eosinophils* ; Female ; Gallbladder ; Humans ; Hypereosinophilic Syndrome* ; Korea ; Middle Aged ; Rare Diseases ; Urinary Bladder

The occurrence of valporic acid (VPA)-induced pancreatitis is a rare condition, predominantly observed in adolescent. Also, the occurrence of VPA-associated with hemorrhagic pseudocyst is extremely rare. We report the case of a 54-year-old man who had been taking VPA for uncontrolled seizures. He was admitted to our hospital with complaints of abdominal pain and diagnosed with acute on chronic pancreatitis. There were no other causes explaining pancreatitis, and it was thought to be due to VPA therapy. Despite of cessation of VPA, there was ongoing severe abdominal pain with fever. The patient underwent follow-up CT, which revealed a large loculated fluid collection that was observed with intra-cystic hemorrhage. After treatment with percutaneous catheter drainage, he was discharged with regression of the pancreatic pseudocyst. VPA-associated pancreatitis with hemorrhagic pseudocyst is rare but possible. Therefore, this possibility should be considered in the cause of hemorrhagic pseudocyst in a patient taking VPA.
Abdominal Pain ; Adolescent ; Catheters ; Drainage ; Fever ; Follow-Up Studies ; Hemorrhage ; Humans ; Middle Aged ; Pancreatic Pseudocyst ; Pancreatitis* ; Pancreatitis, Chronic ; Seizures ; Valproic Acid

Anaphylaxis to proton pump inhibitors (PPIs) has rarely been reported. Different patterns of cross-reactivity between PPIs have also been demonstrated using skin tests. Here, we report a case of anaphylaxis to lansoprazole with tolerance to other commercially available PPIs, which was proved by skin tests and oral provocation tests (OPTs). A 47-year-old female patient visited our Emergency Department with a sudden onset of whole body urticaria, facial swelling, dyspnea, and loss of consciousness that developed 1 hour after ingestion of 30 mg of lansoprazole for her episodic epigastric soreness. The skin prick test (SPT) and the intradermal test (IDT) with lansoprazole, esomeprazole, rabeprazole, and pantoprazole were performed. Lansoprazole showed positive reactions in both the SPT (3 mg/mL) and the IDT (0.003 mg/mL). Rabeprazole (3 mg/mL) showed a positive reaction only in IDT. The SPT and the IDT with esomeprazole and pantoprazole were all negative. The OPT with 30 mg of lansoprazole was positive (showing generalized rash and facial swelling 30 minuites after ingestion), while OPTs with esomeprazole, pantoprazole, and rabeprazole were all negative. Other PPIs could be safe alternatives in cases of anaphylaxis to 1 PPI. Skin tests seem to be helpful to define cross-reactivity between PPIs.
Anaphylaxis* ; Dyspnea ; Eating ; Emergency Service, Hospital ; Esomeprazole ; Exanthema ; Female ; Humans ; Intradermal Tests ; Lansoprazole* ; Middle Aged ; Proton Pump Inhibitors* ; Rabeprazole ; Skin ; Skin Tests ; Unconsciousness ; Urticaria

PURPOSE: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. MATERIALS AND METHODS: We collected and reviewed records from our hospital for 2001-2010 and a genetic specialist provided-genetic counseling. RESULTS: We diagnosed 130 cases (0.71%) with SCA out of 18,376 prenatal cases from 2001 to 2010. We reviewed the records and the results of all pregnancies. We also included cases (n=84) of apparently normal anatomic fetuses to analyze the factors influencing parental decisions. We excluded 34 cases with an obvious anomaly or a presumably bad outcome and 12 cases that were not followed up. Forty-three couples (51.2%) continued their pregnancies while forty-one (48.8%) terminated them. Of 38 mosaicism cases, 21 (55.3%) were continued. Among the 20 pregnancies assisted by reproductive techniques, 15 (75%) were continued (P=0.02). More pregnancies were continued when genetic counseling was provided (61.9%) compared to cases in which it was not provided (19%) (P=0.01). CONCLUSION: Genetic counseling is important in providing appropriate information to parents. Establishing guidelines and protocols will help both obstetricians and parents to make informed decisions.
Family Characteristics ; Fetus ; Genetic Counseling ; Humans ; Mosaicism ; Parents ; Pregnancy ; Prenatal Diagnosis ; Reproductive Techniques ; Sex Chromosome Aberrations ; Sex Chromosomes ; Specialization

Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks for unbalanced karyotypes. However, various clinical phenotypes are seen due to breakpoint variation or recombination. We report a prenatally detected case of familial paracentric inversion of chromosome 18, inv(18)(q21.1q22), with normal clinical features.
Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; Karyotype ; Phenotype ; Recombination, Genetic

Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks for unbalanced karyotypes. However, various clinical phenotypes are seen due to breakpoint variation or recombination. We report a prenatally detected case of familial paracentric inversion of chromosome 18, inv(18)(q21.1q22), with normal clinical features.
Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; Karyotype ; Phenotype ; Recombination, Genetic