Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor VIII gene and a variety of phenotypes. The type of mutation involved dictates the activity of factor VIII, and in turn the severity of bleeding episodes and development of alloantibodies against factor VIII (inhibitors). Missense mutations are the most common genetic risk factors for hemophilia A, especially mild to moderate cases, but carry the lowest risk for inhibitor development. On the other hand, intron 22 inversion is the most common mutation associated with severe hemophilia A and is associated with high risk of inhibitor formation. Large deletions and nonsense mutations are also associated with high risk of inhibitor development. Additional mutations associated with hemophilia A include frameshift and splice site mutations. It is therefore valuable to assess the mutational backgrounds of hemophilia A patients in order to to interpret their symptoms and manage their health problems.
Codon, Nonsense ; Factor VIII ; Hand ; Hemophilia A ; Hemorrhage ; Humans ; Introns ; Isoantibodies ; Mutation, Missense ; Phenotype ; Risk Factors

PURPOSE: In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical manifestations, and comorbidities of Turner syndrome patients in Kyungpook National University Hospital to compare them to the recent hypotheses about sex chromosome gene loci related to Turner symptoms. MATERIALS AND METHODS: We identified the cytologic findings of 92 patients with Turner syndrome and the clinical findings of 62 patients among them. RESULTS: 54.3 percent of patients had 45,X while 45.7 percent showed other karyotype combinations (45,X/46,XX, 45,X/46,XX/47,XXX, 46,X,del(Xp), 46,X,del(Xq), 45,X/46,X,del(Xq), 46,X,i(Xq), 45,X/46,X,i (Xq)). The Turner symptoms found included short neck, high arched palate, broad chest, Madelung deformity, short metacarpals, scoliosis, cubitus valgus, low hair line, webbed neck, edematous extremities, pigmented nevus, and sexual infantilism. The specific diseases associated Turner syndrome included renal abnormalities, congenital heart disease, hearing defects, diabetes mellitus, hyperlipidemia, and decreased bone density. The phenotype of the mosaicism group was milder than that of the monosomy group. In the case of 46,X,del(Xp) and 45,X/46,X,del(Xq) groups, all had skeletal abnormalities, but the 46,X,del(Xq) group had none. In the case of 46,X,del(Xp) group, all showed short statures and skeletal abnormalities, but no sexual infantilism was observed. In the case of 46,X,i(Xq) and 45,X/46,X,i(Xq) groups, they all showed delayed puberty and had primary amenorrhea. CONCLUSION: It is important to study karyotype-phenotype correlations in patients with Turner syndrome to obtain interesting information about the genotype-phenotype correlations related to the X chromosome.
Bone Density ; Chromosome Aberrations ; Comorbidity ; Congenital Abnormalities ; Diabetes Mellitus ; Extremities ; Genetic Association Studies ; Growth Disorders ; Hair ; Hearing ; Heart Diseases ; Humans ; Hyperlipidemias ; Karyotype ; Korea ; Metacarpal Bones ; Monosomy ; Mosaicism ; Neck ; Nevus, Pigmented ; Osteochondrodysplasias ; Palate ; Phenotype ; Puberty, Delayed ; Scoliosis ; Sex Chromosomes ; Sexual Infantilism ; Thorax ; Turner Syndrome ; X Chromosome

BACKGROUND: The immune thrombocytopenia (ITP) criteria were newly standardized by the International Working Group. Thus, we analyzed the natural course of childhood chronic ITP to predict the prognosis based on the revised criteria. METHODS: The medical records of children with chronic ITP from May 2000 to February 2013 in our institute were reviewed. RESULTS: Forty-seven children with chronic ITP who were not undergoing corticosteroid therapy were included. Their initial platelet count was 23+/-25x10(9)/L, and age at diagnosis was 6.3+/-4.1 years. The follow-up period was 5.4+/-3.7 years. Among them, 44.7% (21/47) showed spontaneous remission and maintained a platelet count > or =100x10(9)/L. And 66.0% (31/47) maintained a platelet count > or =50x10(9)/L until the last follow-up date. The time periods required for the platelet count to be maintained > or =50x10(9)/L and > or =100 x10(9)/L were 3.1+/-2.7 and 3.6+/-2.7 years. Age at diagnosis in the > or =50x10(9)/L group (5.7+/-4.4 years) was significantly lower than the age at diagnosis in the <50x10(9)/L group (7.4+/-3.3 years) (P=0.040). And follow-up period was the factor influencing prognosis between the > or =100x10(9)/L group and <50x10(9)/L group (P=0.022). CONCLUSION: Approximately 45% of children with chronic ITP recovered spontaneously about 3-4 years after the diagnosis and 2/3 of patients maintained a platelet count > or =50x10(9)/L, relatively safe state. Age at diagnosis of ITP and follow-up period were the factors influencing prognosis in this study.
Child ; Diagnosis ; Follow-Up Studies ; Humans ; Medical Records ; Platelet Count ; Prognosis ; Remission, Spontaneous ; Thrombocytopenia*

Solid pseudopapillary tumors of the pancreas (SPTPs) are rare tumors with limited malignant potential; they are mainly diagnosed in young women. Complete surgical resection of the tumor is usually possible and patients have an excellent prognosis. However, local invasion and distant metastases have been reported in about 10-20% of patients with SPTPs; these patients require supplementary management for long-term survival. Here, we report a pediatric patient with inoperable SPTP unresponsive to neoadjuvant chemotherapy using cisplatin, ifosfamide, and etoposide which had spread to other organs. Subtotal resection of the primary tumor, radiofrequency ablation, radiotherapy, and adjuvant chemotherapy using gemcitabine were done to control this progressive SPTP.
Chemotherapy, Adjuvant ; Cisplatin ; Deoxycytidine ; Etoposide ; Female ; Humans ; Ifosfamide ; Neoplasm Metastasis ; Pancreas ; Prognosis

A 3-month-old male infant was transferred to our hospital due to bicytopenia. His bone marrow biopsy showed irregular bony trabeculae with cartilaginous core, which was consistent with osteopetrosis. In the genetic test, c.242del (p.Pro81Argfs*85) in TCIRG1 was found to be homozygotic, thus he was diagnosed with malignant infantile osteopetrosis. At 6 months of age, he received double-unit umbilical cord blood transplantation (UCBT) with the conditioning regimen including busulfan, cyclophosphamide, and rabbit anti-thymocyte globulin. Initially, single UCB was infused to the patient, but the post infusion viability of the UCB was unexpectedly low. Thus, another UCB was additionally infused. Cyclosporine and mycophenolate mofetil were used for graft-versus-host disease (GVHD) prophylaxis. Neutrophils and platelets were engrafted on day +13 and +33, respectively. With engraftment, he showed overall grade 4 acute GVHD involving the skin and gut, which was refractory to corticosteroids. Despite treating with low-dose weekly methotrexate (10 mg/m2) and oral beclomethasone, his symptoms persisted. After treating with ruxolitinib 2.5 mg/day for 2 weeks, and 5 mg/day thereafter, his diarrhea stopped in 2 weeks and his skin symptoms gradually improved over 3 months. The short tandem repeats showed 100% donor chimerism at 1 and 3 months after UCBT. Currently, 4 months after UCBT, he is 10 months old. The oral prednisolone has been tapered to 0.6 mg/kg/day, and the dose of ruxolitinib was decreased to 2.5 mg/day without recurrence of GVHD. We plan to taper off the immunosuppressive agents if his GVHD symptoms do not recur.

OBJECTIVES: This study explored the association between dietary and suicidal behaviors of Korean adolescents and investigated differences in this association in children of immigrant parents. METHODS: The sample (n=368,138) was collected from the Korea Youth Risk Behavior Survey from 2015 to 2020. Participants who agreed to provide family information (n=313,689) were classified according to their parents’ nationality. The study variables were 11 self-reported dietary behaviors, and their composite dietary behaviors (i.e., nutrient deprivation and unhealthy food consumption) that resulted from principal component analysis. The association between study variables and suicide-related outcomes (i.e., suicidal ideation, suicide planning, and suicide attempts) was analyzed by multiple logistic regression with adjustment for covariates. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were calculated. RESULTS: Participants who skipped key meals and foods were more likely to have attemped suicide (aOR [95% CI]: skipping breakfast ≥5 days/wk, 1.28 [1.21 to 1.35]; consuming fruits <1 times/wk: 1.42 [1.32 to 1.52]; consuming vegetables <1 times/wk: 1.72 [1.53 to 1.93]; consuming milk <3 times/wk: 1.07 [0.99 to 1.16]). The associations were prominent in third culture kids (TCKs) (aOR [95% CI]: 2.23 [1.61 to 3.09]; 2.32 [1.61 to 3.35]; 2.63 [1.50 to 4.60]; 1.69 [1.09 to 2.63], respectively). Participants who consumed unhealthy foods (fast food, caffeinated and sugary drinks) more frequently were more likely to have attempted suicide (aOR, 1.55; 95% CI, 1.38 to 1.73). This association was also more prominent in TCKs (aOR, 2.08; 95% CI, 1.08 to 4.01). CONCLUSIONS Our findings indicate a positive association between unfavorable dietary behaviors and outcomes related to suicide, and this association appears to be notable in adolescents with immigrant parents.

Inherited platelet function disorders (IPFDs) are rare and underdiagnosed in individuals with clinically significant bleeding diathesis. IPFDs are classified according to the causative molecular defects involved in the process of primary hemostasis of platelets, which include the following: 1) adhesion (e.g., Bernard–Soulier syndrome and pseudo-von Willebrand disease), 2) activation (e.g., adenosine diphosphatase receptor defect and thromboxane A2 receptor defect), 3) signal transduction and granule secretion (e.g., gray platelet syndrome, Paris–Trousseau/Jacobsen syndrome, Chediak– Higashi syndrome, and Hermansky–Pudlak syndrome), 4) aggregation (e.g., Glanzmann thrombasthenia), and 5) procoagulant activity (e.g., Scott syndrome). Patients with IPFDs typically present with unexpected mucocutaneous bleeding during early childhood. The diagnosis of these conditions requires several laboratory tests including complete blood cell count, peripheral blood smear, platelet function analysis, light-transmission aggregometry, flow cytometry, electron microscopy, and genetic analysis. Platelet transfusion has been the mainstay of treatment. However, antifibrinolytics, desmopressin, and recombinant activated factor VII are also effective when used as a monotherapy or adjunctive therapy. Importantly, the prevention of bleeding event is the most basic strategy in the management of IPFDs. This review aimed to assess the normal platelet physiology and summarize the current knowledge about the molecular defects, diagnostic evaluation, and treatment strategies of the respective IPFDs. If the cause of the bleeding tendency is difficult to identify, IPFDs should be considered.

A 23 months-old girl visited the hospital because of fever and left neck mass. She was diagnosed as acute suppurative thyroiditis with piriform sinus fistula. Thyroid sonography showed perithyroidal abscess formation and thyroid scan showed decreased uptake of Tc-99m pertechnate of both thyroid glands. Magnetic resonance imaging of neck showed abscess cavity extending to the swollen left thyroid gland. And there was tiny fistula between thyroid and piriform sinus in the barium esophagogram. Streptococcus gordonii was isolated on needle aspiration culture. We report a case of piriform sinus fistula of the neck complicated with suppurative thyroiditis. The fistula was treated with chemocauterization using trichloroacetic acid.
Abscess ; Barium ; Female ; Fever ; Fistula* ; Humans ; Magnetic Resonance Imaging ; Neck ; Needles ; Pyriform Sinus* ; Streptococcus gordonii ; Thyroid Gland ; Thyroiditis, Suppurative* ; Trichloroacetic Acid*

Phosphate is an essential ion and plays a vital role in many physiological processes. Carpopedal spasm is known as a symptom of hypocalcemia, or rarely, hypomagnesemia. We present an unusual case of carpal spasm seen in a patient with hypophosphatemia. A fourteen year old boy was admitted with acute onset of both carpal spasm after vomiting and diarrhea. Biochemical investigation revealed only moderate hypophosphatemia without hypocalcemia. Other laboratory findings including hormone tests were normal. Carpal spasm improved with correction of hypophosphatemia. The phathophysiology of neurologic dysfunction related to hypophosphatemia is not clear yet. Careful observation of serum electrolytes including phosphate is necessary when the patient has neurologic symptoms.
Diarrhea ; Electrolytes ; Humans ; Hypocalcemia ; Hypophosphatemia* ; Male ; Neurologic Manifestations ; Physiological Processes ; Spasm* ; Vomiting

PURPOSE: An adequate vitamin D level is important for normal growth, cancer prevention, controlling hormones, and immune regulation. However, no study has investigated vitamin D status in patients with serious illnesses, such as malignancies, malabsorption diseases, or prematurity in Korean children. Thus, we analyzed the results of 25-hydroxyvitamin D3 (25-D) levels in children in a single tertiary medical center. METHODS: Children who had their vitamin D level evaluated at Keimyung University Dongsan Medical Center from January 2004 to December 2014 were included. We reviewed the medical records and laboratory test results. RESULTS: Ninety-three children (male:female = 48:45) who had their vitamin D levels measured were included. The most common reason for measuring vitamin D level was hypocalcemia with or without neurological signs. Among the subjects, 61 children had hypovitaminosis D (25-D < 30 ng/mL). A positive correlation was detected between 25-D and total calcium levels (p = 0.001). Negative correlations were found between 25-D and immunoreactive parathyroid hormone (iPTH) levels (p = 0.002) and between 25-D and alkaline phosphatase (ALP) levels (p = 0.021). Twenty-three subjects (37.7%) had a critical underlying condition, including a hemato-oncologic issue (18.0%), gastrointestinal or nutritional problem (11.5%), and prematurity or low birth weight (8.2%). CONCLUSION: The levels of total calcium, ALP, and iPTH were correlated with 25-D level. An underlying malignancy, malabsorption issues, or prematurity may be risk factors for hypovitaminosis D in children.
Alkaline Phosphatase ; Calcifediol ; Calcium ; Child* ; Humans ; Hypocalcemia ; Infant, Low Birth Weight ; Infant, Newborn ; Medical Records ; Parathyroid Hormone ; Risk Factors* ; Vitamin D