Purpose: This report describes a case of recurrent ophthalmoplegia associated with hyperhomocysteinemia due to methylenetetrahydrofolate reductase (MTHFR) gene polymorphism.Case summary: A 40‐year‐old healthy man presented with acute diplopia. He had a history of diplopia due to left sixth nerve palsy 2 years ago. Prism and alternate cover tests revealed left hypertropia in the primary position. Examination of ductions and versions showed mild elevation of the left eye on adduction. Brain and orbit magnetic resonance imaging were normal. Laboratory studies revealed an elevated level of erythrocyte sedimentation rate (ESR) and homocysteine. A diagnosis of left fourth nerve palsy associated with hyperhomocysteinemia was made. Symptoms were completely resolved within 2 weeks. Two years later, the patient again had diplopia associated with esotropia and limited abduction of the right eye. ESR and homocysteine level were normal. Analysis for MTHFR gene polymorphisms, which contribute to variable hyperhomocysteinemia, revealed 677TT homozygote variant. A diagnosis of recurrent paralytic strabismus associated with hyperhomocysteinemia, caused by MTHFR gene polymorphism, was made. Symptoms resolved within 1 month, and the patient did not have any further recurrence in 6 months. Conclusions Patients with hyperhomocysteinemia may present with ophthalmoplegia. An analysis for MTHFR gene polymorphisms is needed to diagnose hyperhomocysteinemia.

Acrodermatitis enteropathica(AE) which starts in early infancy after weaning is a rare hereditary chronic disorder of zinc absorption. AE is characterized by alopecia, diarrhea and skin lesions localized to periorificial areas and acrally on the extremities. However, recent reports presented Transient Symptomatic Zinc Deficiency(TSZD) in preterm infants. TSZD is clinically similar to AE and skin lesions rapidly heals after zinc supplementation. When the treatment was withheld, no recurrence was seen. We experienced a TSZD case in a cow's milk fed, preterm infant, so We report it with a brief review of literature.
Absorption ; Acrodermatitis ; Alopecia ; Diarrhea ; Extremities ; Humans ; Infant* ; Infant, Newborn ; Infant, Premature* ; Milk* ; Recurrence ; Skin ; Weaning ; Zinc*

OBJECTIVE: In order to confirm the local production of total and specific IgE antibodies in the nasal polyp tissues. MATERIAL AND METHOD: We measured total IgE and house dust mite(Dermatophagoides pteronpssinus .' DP)-specific IgE antibody using enzyme-linked immunosorbent assay(ELISA) in the supernatant of nasal polyp homogenates from 72 subjects undergoing nasal polypectomy. The subjects were divided into three groups according to skin reactivity to DP: 20 strongly atopic subjects to group I(mean wheal diameter) 3mm), 19 weakly atopic subjects to group II (mean wheal diameter 1-3mm) and 33 negative skin responders to group III. RESULT: Group I showed significantly higher levels of total and DP-specific IgE levels in the nasa
Antibodies ; Dust* ; Immunoglobulin E* ; Nasal Polyps* ; Pyroglyphidae* ; Skin ; United States National Aeronautics and Space Administration

Purpose: To determine the postoperative changes in vessel density according to macular hole and macular pseudohole (MPH) subtypes and to investigate the differences in the mechanisms underlying their development. We also investigated whether changes in vessel density are correlated with changes in the multifocal electroretinogram (mfERG) and best corrected visual acuity (BCVA). Methods: We reviewed the medical records of patients with MPH or a macular hole who underwent pars plana vitrectomy. We included 15 eyes of 15 patients with a full thickness macular hole (FTMH), nine eyes of nine patients with a tractional lamellar macular hole (LMH), eight eyes of eight patients with a degenerative LMH, and nine eyes of eight patients with a MPH. The BCVA, foveal avascular zone (FAZ), foveal and parafoveal vessel density, and mfERG ring 1 and ring 2 P1 amplitudes were analyzed before and 1 and 6 months after surgery. Results: One month postoperatively, the foveal vessel density of patients with a MPH or tractional LMH increased (p = 0.011, p = 0.008). The parafoveal vessel density of patients with a MPH, tractional LMH, and FTMH increased (p = 0.007, p = 0.038, p = 0.031). There was no significant increase in foveal or parafoveal vessel density in patients with a degenerative LMH (p = 0.201, p = 0.171). There was a significant correlation between the change in parafoveal vessel density and that in BCVA 6 months postoperatively in patients with a FTMH (r = -0.543, p = 0.037). Conclusions By assessing changes in vessel density after vitrectomy, it is possible to estimate the effect of traction according to the type of macular hole. There was a significant correlation between parafoveal vessel density and BCVA in patients with a FTMH. Restoration of the retinal structure and vessel density might improve visual acuity.

Gastritis cystica superficialis (GCS) is a rare lesion which is characterized by glandular hyperplasia with regeneration and degeneration in the mucosa and muscularis mucosa. Recently, GCS is revealed as precancerous lesion, but most report has been associated with those found at the site of a gastroenterostomy. So, we report two cases with GCS who had not previous gastric surgery. A 45-year-old woman visited for epigastric discomfort and another 4Q-year-old woman for epigastric pain. They had not undergone any gastric surgery. The gastroscopy discovered one polyp on anterior wall of greater curvature, upper body and another polyp in the center of the fold of greater curvature, lower body. We removed it by snare polypectomy and the histologic finding showed the character of GCS.
Female ; Gastritis* ; Gastroenterostomy ; Gastroscopy ; Humans ; Hyperplasia ; Middle Aged ; Mucous Membrane ; Polyps ; Regeneration ; SNARE Proteins

Purpose: To analyze the incidence rate and risk factors of intraocular lens dislocation in South Korea from 2002 to 2020 using Health Insurance Review and Assessment Service data. Methods: This study included 15% of patients aged > 40 years had pseudophakia or intraocular lens primary implantation codes during 2002-2020 (737,606 patients). The annual incidence rate and risk factors of intraocular lens dislocation during 2002-2020 were analyzed. Results: The mean annual incidence rate of intraocular lens dislocation during 2002-2020 was 0.20 ± 0.7%. The annual incidence rate increased significantly from 0.17% in 2002 to 0.34% in 2020 (p < 0.001). The annual mean incidence rate for women was 0.1 ± 0.05%, and there was no increasing trend (p > 0.05). The annual mean incidence rate for men was 0.35 ± 0.13% and an increasing trend was found (p < 0.001). High myopia, uveitis, retinitis pigmentosa, glaucoma, pseudoexfoliative glaucoma and previous vitreoretinal surgery significantly increased the risk of intraocular lens dislocation (p < 0.001). Hemodialysis and hypertension were not significant risk factors (p > 0.05). Conclusions The mean annual incidence rate of intraocular lens dislocation in South Korea was 0.2 ± 0.7%, and it showed an increasing trend, among men. High myopia, uveitis, retinitis pigmentosa, glaucoma, pseudoexfoliative glaucoma and previous vitreoretinal surgery significantly increased the risk of intraocular lens dislocation.

Supernumerary kidney is one of the very rare anomalies of the urinary tract. Only about 75 cases have been reported since it was first described in 1656. Herein we present a case of supernumerary kidney which was diagnosed by ultrasonography, intravenous urography and CT scanning.
Kidney* ; Tomography, X-Ray Computed ; Ultrasonography ; Urinary Tract ; Urography

BACKGROUND: The p38 mitogen-activated protein kinases (p38Map kinases) are a family of prolinedirected serine/threonine kinases. At least four isoforms of p38Map kinases have been identified; however, their physiological significances remain to be understood. Recently, the role of p38Map kinase in insulin-stimulated glucose uptake has been suggested. The present study aimed to investigate which isoform(s) were responsive to insulin stimulation. In addition, the activities of p38 Map kinase isoforms that may participate in the insulin's antiapoptotic function in CHO-IR cells were also determined. METHODS: Chinese hamster ovary cells, expressing wild- or mutated human insulin receptors (CHO-IR cells), were used to investigate whether insulin can stimulate any of the isoform(s) of the p38Map kinases. The p38Map kinase activity was determined by measuring the degree of 32P-labelling of ATF-2 protein, a specific substrate of p38Map kinase. A DNA laddering assay was performed to examine the degree of apoptosis and a RT-PCR analysis to determine which isoform(s) of the p38Map kinases were expressed in response to insulin. RESULTS: p38Map kinase activation by insulin was sharply suppressed in only the CHO-IR/A1018K cells, which lack the intrinsic tyrosine kinase activity of insulin receptors. Insulin stimulation of p38Map kinase was insensitive to SB203580, an inhibitor of the alpha(alpha)-and beta(beta)-isoforms of p38Map kinases. Moreover, orthovanadate, known as a specific stimulator of the gamma(gamma)-and delta(delta-) isoforms, stimulated the p38Map kinase activity in CHO-IR cells. Insulin increased the degree of mRNA expression of the delta-isoform, but not that of the alpha-isoform p38Map kinase. Interestingly, PD98059, an inhibitor of ERK, suppressed p38Map kinase stimulation, as well as the antiapoptotic protection of cells by insulin. As insulin was found to still protect ERK-lacking cells (CHO-IR/ SOS) from apoptosis, any substantial role(s) of ERK might be excluded. CONCLUSION: Our data suggest that insulin may stimulate the activity and expression of the-isoform of p38Map kinase in a MEK1/2-dependent manner. The involvement of the delta-isoform of p38Map kinase in insulin's antiapoptotic protection was also suggested, but remains to be investigated further to clarify the nature of its mechanism of action
Animals ; Apoptosis ; Cricetinae ; Cricetulus ; DNA ; Female ; Glucose ; Humans ; Insulin ; Ovary ; p38 Mitogen-Activated Protein Kinases ; Phosphotransferases* ; Protein Isoforms ; Protein-Tyrosine Kinases ; Receptor, Insulin ; RNA, Messenger ; Vanadates

BACKGROUND: The p38 mitogen-activated protein kinases (p38Map kinases) are a family of prolinedirected serine/threonine kinases. At least four isoforms of p38Map kinases have been identified; however, their physiological significances remain to be understood. Recently, the role of p38Map kinase in insulin-stimulated glucose uptake has been suggested. The present study aimed to investigate which isoform(s) were responsive to insulin stimulation. In addition, the activities of p38 Map kinase isoforms that may participate in the insulin's antiapoptotic function in CHO-IR cells were also determined. METHODS: Chinese hamster ovary cells, expressing wild- or mutated human insulin receptors (CHO-IR cells), were used to investigate whether insulin can stimulate any of the isoform(s) of the p38Map kinases. The p38Map kinase activity was determined by measuring the degree of 32P-labelling of ATF-2 protein, a specific substrate of p38Map kinase. A DNA laddering assay was performed to examine the degree of apoptosis and a RT-PCR analysis to determine which isoform(s) of the p38Map kinases were expressed in response to insulin. RESULTS: p38Map kinase activation by insulin was sharply suppressed in only the CHO-IR/A1018K cells, which lack the intrinsic tyrosine kinase activity of insulin receptors. Insulin stimulation of p38Map kinase was insensitive to SB203580, an inhibitor of the alpha(alpha)-and beta(beta)-isoforms of p38Map kinases. Moreover, orthovanadate, known as a specific stimulator of the gamma(gamma)-and delta(delta-) isoforms, stimulated the p38Map kinase activity in CHO-IR cells. Insulin increased the degree of mRNA expression of the delta-isoform, but not that of the alpha-isoform p38Map kinase. Interestingly, PD98059, an inhibitor of ERK, suppressed p38Map kinase stimulation, as well as the antiapoptotic protection of cells by insulin. As insulin was found to still protect ERK-lacking cells (CHO-IR/ SOS) from apoptosis, any substantial role(s) of ERK might be excluded. CONCLUSION: Our data suggest that insulin may stimulate the activity and expression of the-isoform of p38Map kinase in a MEK1/2-dependent manner. The involvement of the delta-isoform of p38Map kinase in insulin's antiapoptotic protection was also suggested, but remains to be investigated further to clarify the nature of its mechanism of action
Animals ; Apoptosis ; Cricetinae ; Cricetulus ; DNA ; Female ; Glucose ; Humans ; Insulin ; Ovary ; p38 Mitogen-Activated Protein Kinases ; Phosphotransferases* ; Protein Isoforms ; Protein-Tyrosine Kinases ; Receptor, Insulin ; RNA, Messenger ; Vanadates

PURPOSE: Neonatal adrenal hemorrhage is not rare disease which can be caused by such risk factors as sepsis, large baby, birth trauma and asphyxia. The clinical manifestations include jaundice, anemia, abdominal mass and differentiation from neuroblastoma, renal vein thrombosis and adrenal abscess is needed. Through the clinical assessment of presenting features, we hope that this study be of any help to early detection and proper management of neonatal adrenal hemorrhage. METHODS: The 16 subjects out of neonates admitted to our hospital from July 1991 to June 1997 were diagnosed as neonatal adrenal hemorrhage. The risk factors, clinical manifestations, diagnostic methods and prognosis of neonatal adrenal hemorrhage were evaluated in these 16 cases. RESULTS: 1) Among 16 cases, males were 10 (62.5%) and females were 6 (37.5%). Mean birth weight was 3.601.08kg and mean gestational age was 39.82+1.08 week, and all were fullterm babies. In modes of delivery, vaginal deliveries were 12 cases (75.0%) and cesarean sections were 4 cases (25.0%). 2) 13 cases (81.2%) were involved in right side, 2 cases (12.5%) in left side and 1 case (6.3%) bilaterally. 3) The risk factors include sepsis in 6 cases (37.5%), large baby in 5 cases (31.3%), birth trauma in 5 cases<31.3%) and asphyxia in 3 cases (18.8%). 4) The clinical manifestations include jaundice in 7 cases (43.8%), anemia in 7 cases (43.8%), fever in 6 cases (37.5%) and abdominal mass in 3 cases (18.8%). 5) In the time of diagnosis, until 7 days of birth were 9 cases (56.2%), 8-14 days were 3 cases (18.8%), 15-21 days were 2 cases (12.5%) and 22-28 days were 2 cases (12.5%). Follow-up studies were done in 13 cases (81.2%), and tha lesions all decreased without any specific complications or sequelae. CONCLUSION: Neonatal adrenal hemorrhage can be diagnosed by abdominal ultrasono- gram in the presence of suggestive manifestations of jaundice, anemia, fever and abdominal mass, with relatively good prognosis. Differentiation from other conditions as well as avoidance of unnecessary explorations can be achieved by serial follow-up examinations of abdominal ultrasonogram.
Abscess ; Anemia ; Asphyxia ; Birth Weight ; Cesarean Section ; Diagnosis ; Female ; Fever ; Follow-Up Studies ; Gestational Age ; Hemorrhage ; Hope ; Humans ; Infant, Newborn ; Jaundice ; Male ; Neuroblastoma ; Parturition ; Pregnancy ; Prognosis ; Rare Diseases ; Renal Veins ; Risk Factors ; Sepsis ; Thrombosis ; Ultrasonography