Craniometaphyseal dysplasia is a rare genetic bone disorder characterized by cranial hyperostosis, sclerosis, and failure of normal modeling of the tubular bones. Both autosomal dominant and recessive forms have been described. Diagnosis of the craniometaphyseal dysplasia is mode on the basis of characteristic radiographic findings. Radiologic findings are thickening and hyperostosis of the skull, and Erlenmeyer flask deformity of the metaphysis on the long bones. We report a case of the craniometaphyseal dysplasia.
Congenital Abnormalities ; Diagnosis ; Hyperostosis ; Sclerosis ; Skull

PURPOSE: The purpose of this study was to evaluate the sonographic features of normal choroid plexus, thushelping avoid misinterpretations such as intraventricular hemorrhage or abnormality. MATERIALS AND METHODS: Posterior coronal, parasagittal, and oblique sagittal scans of 400 choroid plexus in normal full-term neonates(100girls, 100 boys) were reviewed with special attention to coronal configuration, glomus patterns,and the shape ofanterior ends. Sonographic features were classified as follows ; tubular(type 1), posterior clubbing(type 2),mid-bulging(type 3), or double choroidal pattern(type 4), as seen on posterior coronal scans; crescent(type1),superior notching(type 2), dorsal bulging(type 3), or inferior notching(type 4), as seen on parasagittal scans;and anterior tapering(type 1) and clubbing shape (type 2) on oblique parasagittal scans. Maximal diameters of thechoroid plexus on posterior coronal scan and the glomus on parasagittal scan were measured. All sonographicmeasurements of normal choroid plexus were statistically analysed according to gender and side. RESULTS: Fourhundred normal choroid plexus were classified as 293 cases(73%) of tubular pattern(type 1), 50 cases(13%) ofposterior bulging(type 2), 44 cases (11%) of mid-bulging(type 3) and 13 cases(3%) of double choroidal pattern(type 4) as seen on posterior coronal scans ; 263 cases(66%) of crescent shape(type 1), 70 cases(17%) of superiornotching (type 2), 38 cases(9%) of dorsal bulging(type 3), and 29 cases(7%) of inferior notching(type 4), as seenon parasagittal scans; and 233 cases(58%) of anterior tapering(type 1) and 167 cases(42%) of anterior clubbing(type 2), as seen on oblique parasagittal scans. Maximal diameters of the choroid plexus on posterior coronal scanwere 7.17 +/-0.12 mm (95% confidence interval [CI]) on the right side and 7.13 +/-0.19mm (95% CI) on the left side,and 8.13 +/-0.24(95% CI) mm on the right and 8.57 +/-0.29mm on the left side glomus on parasagittal scan. There wereno significant statistical differences with regard to gender and side. CONCLUSION: We have observed themorphological variety of the choroid plexus in normal full-term neonates on ultrasonograms and believe that aknowledge of the various sonographic patterns involved can help differentiating normal choroid plexus fromintraventricular hemorrhage or choroidal abnormality.
Brain ; Choroid Plexus* ; Choroid* ; Hemorrhage ; Humans ; Infant, Newborn* ; Ultrasonography

This study was aimed at evaluating the nutritional status of Korean lactating women, who were attending peripheral community clinics in low-income areas, by anthropometric measurement, estimating dietary intakes and analyzing the contents of breast milk components, serum lipid content and fatty acid composition. Regarding anghropometric measurements, maternal circumferences decreased significantly at the trunk but not at the limbs. The skinfold thickness on all regions had the tendency to decrease during lactation. It was found that intakes of energy, protein, lipid and carbohydrates were desirable while calcium, zinc, copper and vitamin A were low and sodium was excessive. The energy % of fat was 22.41% of the total energy which is higher than the RDA for adults but it is proper for lactating women, but energy % from each fatty acid was usually low and an intake ratio of omega6/omega3 fatty acids was desirable. Accordingly, it is thought that dietary fat intake was balanced in quality. Concentrations of the nutrients in matured human milk showed the same range as that reported form different regions with the exception of calcium and magnesium which were relatively low. Serum lipid contents were decreased with the time postpartum and the average serum lipid content of lactating women were similar to the normal range of adults. Serum polyunsaturated fatty acids. especially omega6 fatty acids have gradually increased with the time postpartum, but the composition were not greatly influenced by dietary intakes.
Adult ; Breast* ; Calcium ; Carbohydrates ; Copper ; Dietary Fats ; Extremities ; Fatty Acids ; Fatty Acids, Unsaturated ; Female ; Humans ; Lactation ; Magnesium ; Milk, Human* ; Nutritional Status ; Postpartum Period ; Reference Values ; Skinfold Thickness ; Sodium ; Vitamin A ; Zinc

PURPOSE: To document alteration of the outer retinal layers and fundus autofluorescence (FAF) change in eyes with chronic central serous chorioretinopathy (CSCR). METHODS: Seventeen eyes of fifteen patients diagnosed with chronic CSCR from January 2014 to March 2015 with at least 6 months of follow-up and no history of surgery were enrolled in this study. Morphologic alterations in the retinal pigment epithelium (RPE), the photoreceptor inner segment/outer segment (IS/OS) junction layer, and the outer retina were evaluated by Spectral domain optical coherence tomography (SD-OCT). The FAF images were obtained via Heidelberg Retina Angiogram using a view mode of 30° and were described using distribution patterns of retinal autofluorescence compared to background autofluorescence. After tomographic alignment of the FAF intensities with the OCT findings, we analyzed and assessed the alteration of the outer retinal layers and the characteristics of retinal autofluorescence. RESULTS: RPE detachment lesions in SD-OCT showed little or no change in autofluorescence pattern. Five of seven eyes with RPE humps in SD-OCT showed hyper-fluorescence in FAF. All of the eyes with defects or changes of the reflective line representing the IS/OS junction in SD-OCT correlated with hyper-fluorescence in FAF. Seven of nine eyes with persistent subretinal detachment (SRD) showed specific ring-shaped hyper-fluorescence in FAF matching up with the border of the SRD, and five eyes with photoreceptor OS elongation within SRD showed a granular type of hyper-fluorescence within the ring-shaped hyper-fluorescence in FAF. CONCLUSIONS: In chronic CSCR, we found that RPE humps, the lesion IS/OS junction defect, the border of SRD, photoreceptor OS elongation in SD-OCT correlate with hyper-fluorescence lesions in FAF. The areas of the autofluorescence changes in the FAF images are associated with the extent of change in the RPE and outer retina.
Central Serous Chorioretinopathy* ; Follow-Up Studies ; Humans ; Retina ; Retinal Pigment Epithelium ; Retinaldehyde* ; Tomography, Optical Coherence

PURPOSE: Herein we report a successful Nishida muscle transposition procedure (modified Jensen procedure) with right medial rectus recession for treating a right abducens palsy patient. CASE SUMMARY: A 63-year-old male presented with a 30-year history of esotropia due to traumatic abducens palsy in his right eye. At initial examination, right eye visual acuity was 0.9 and intraocular pressure was 11 mm Hg. Ocular movement of the right eye was restricted in the lateral direction and prism cover-uncover test revealed 75 prism diopter right esotropia. For 2 years, the patient was treated as normal tension glaucoma and used his right eye as the dominant eye by turning his head due to glaucomatous field defect in the left eye. We performed 8.0 mm medial rectus recession and Nishida muscle transposition procedure in the right eye and inserted a suture through the temporal margin of each vertical rectus muscle. One week after surgery, the right eye maintained relatively straight alignment and prism cover-uncover test showed 20 prism diopter residual esotropia in the left eye. CONCLUSIONS: The Nishida muscle transposition is a simple procedure and prevents postoperative risk of anterior segment ischemia without the occurrence of tenotomy and muscle splitting. We report a successful Nishida muscle transposition procedure in a patient with chronic abducens palsy.
Esotropia ; Head ; Humans ; Intraocular Pressure ; Ischemia ; Low Tension Glaucoma ; Male ; Middle Aged ; Paralysis* ; Sutures ; Tenotomy ; Visual Acuity

Antithrombin deficiency is a rare condition among the numerous conditions that can lead to a hypercoagulable state, and can manifest as deep vein thrombosis, portal or mesenteric venous thrombosis, pulmonary thromboembolism and cerebrovascular accidents. In this report, we present a case of acute renal infarction and multiple venous thrombosis in a 36-year-old man with a family history of thromboembolism. He presented with a sudden onset of pain in the right flank and was admitted to the emergency room for evaluation. On computed tomography and renal angiography, the diagnosis of acute renal infarction concurrent with portal, splenic and superior mesenteric venous thrombosis was made. Laboratory data revealed parallel decreases in activity and antigen concentration of antithrombin despite normal liver and renal functions. He was treated with intravenous heparin and fresh frozen plasma followed by concomitant warfarin therapy. Taken together, the etiology of acute renal infarction and multiple venous thrombosis was considered to be associated with type I inherited antithrombin deficiency.
Adult ; Angiography ; Antithrombin III Deficiency ; Emergencies ; Heparin ; Humans ; Infarction ; Kidney ; Liver ; Plasma ; Pulmonary Embolism ; Stroke ; Thromboembolism ; Thrombosis ; Venous Thrombosis ; Warfarin

No abstract available.
Animals ; Rats* ; Skin*

This study explored the trends of Genomics & Informatics during the period of 2003-2018 in comparison with 11 other scholarly journals: BMC Bioinformatics, Algorithms for Molecular Biology: AMB, BMC Systems Biology, Journal of Computational Biology, Briefings in Bioinformatics, BMC Genomics, Nucleic Acids Research, American Journal of Human Genetics, Oncogenesis, Disease Markers, and Microarrays. In total, 22,423 research articles were reviewed. Content analysis was the main method employed in the current research. The results were interpreted using descriptive analysis, a clustering analysis, word embedding, and deep learning techniques. Trends are discussed for the 12 journals, both individually and collectively. This is an extension of our previous study (PMCID: PMC6808643).

Acne is a chronic inflammatory condition affecting the sebaceous glands, with approximately 80% of individuals experiencing it at some point in their lives. Among adolescents, the incidence is reported to exceed 85%. The disease can significantly impact both physical and emotional aspects of a person’s quality of life, leading to permanent scarring, poor self-image, depression, and anxiety. The standard first-line treatment for acne vulgaris includes conventional pharmacological approaches such as keratolytics, topical or oral antibiotics, retinoids, and hormonal agents. However, these treatments are not universally effective due to patient noncompliance, adverse drug effects, and the emergence of antibiotic resistance in Cutibacterium acnes, often resulting in high rates of recurrence. Consequently, non-pharmacological therapies have been developed as safe and effective alternatives or supplements to pharmacological treatment. These non-pharmacological approaches can serve as standalone treatment modalities, adjuncts to pharmacological therapy, or maintenance treatments. Current literature lacks comprehensive data on the classification of these non-pharmacological treatment options. This paper aims to provide a brief overview of recent research on the practical applications and potential mechanisms of nonpharmacological therapies for both acne and acne scars. Through elucidating the distinct mechanisms and therapeutic roles of these treatments, we aim to assist dermatologists and other healthcare providers in formulating more effective disease management strategies, thereby encouraging further research in this area.

Acne is a chronic inflammatory condition affecting the sebaceous glands, with approximately 80% of individuals experiencing it at some point in their lives. Among adolescents, the incidence is reported to exceed 85%. The disease can significantly impact both physical and emotional aspects of a person’s quality of life, leading to permanent scarring, poor self-image, depression, and anxiety. The standard first-line treatment for acne vulgaris includes conventional pharmacological approaches such as keratolytics, topical or oral antibiotics, retinoids, and hormonal agents. However, these treatments are not universally effective due to patient noncompliance, adverse drug effects, and the emergence of antibiotic resistance in Cutibacterium acnes, often resulting in high rates of recurrence. Consequently, non-pharmacological therapies have been developed as safe and effective alternatives or supplements to pharmacological treatment. These non-pharmacological approaches can serve as standalone treatment modalities, adjuncts to pharmacological therapy, or maintenance treatments. Current literature lacks comprehensive data on the classification of these non-pharmacological treatment options. This paper aims to provide a brief overview of recent research on the practical applications and potential mechanisms of nonpharmacological therapies for both acne and acne scars. Through elucidating the distinct mechanisms and therapeutic roles of these treatments, we aim to assist dermatologists and other healthcare providers in formulating more effective disease management strategies, thereby encouraging further research in this area.