Pigmented Spitz nevus is a benign melanocytic skin lesion with distinct clinical features and it is frequently found on the extremities. However, it rarely occurs on acral area of the body, and such a case has not yet been fully documented. We present a case of acral pigmented Spitz nevus occurring on the foot, and this mimicked acral lentiginous malignant melanoma. Clinicians should be well aware of this entity and its possible clinical presentations. Since acral pigmented Spitz nevus is benign in nature, making the correct diagnosis is important to avoid unnecessary mutilating or excessive surgery.
Extremities ; Foot ; Melanoma ; Nevus, Epithelioid and Spindle Cell ; Skin

From February 1987 through July 1990, the seventeen cases of inoperabelintracranial arteriovenous malformation (AVM) were treated using 6 MV linear accelerator at the Division of Therapeutic Radiology, Kang Nam St. Mary's Hospital. Of seventeen cases, fourteen were male and three were female. Ages ranged from 10 to 51 years (median age of 26 years). The main symptoms were headache, epilepsy and hemiparesis in decreasing order of frequency. The middle cerebral artery is the most common origin of the feeding vessel (41.2%). Four were treated by conventionally fractionated radiation therapy (CRT), thirteen were treated by stereotactic radiosurgery (RS). Duration of follow-up study, two of four CRT group showed minimal response. Of thirteen cases of RS group, two (15.4%) showed complete response, five (38%) partial response, two (15.4%) minimal response and four (30.7%) no response by the same assessment. There was no statistical significance in terms of follow-up period (p=0.22), size of lesion (p=0.82) and treated dose (p=0.65). Further accumulation of experience s recommended with proper case selection and sufficient follow-up period.
Arteriovenous Malformations ; Epilepsy ; Female ; Follow-Up Studies ; Headache ; Humans ; Intracranial Arteriovenous Malformations* ; Male ; Middle Cerebral Artery ; Paresis ; Particle Accelerators ; Radiation Oncology ; Radiosurgery*

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency of the enzyme collagen lysyl hydroxylase 1 due to mutations in the gene PLOD1. We describe the rare cases of kEDS in Korean siblings with two novel compound heterozygous variants, c.926_934del (p.Leu309_Leu311del) and c.2170_2172del (p.Phe724del) in the PLOD1 gene. They had congenital hypotonia, joint laxity, skin hyperextensibility, Marfanoid habitus, high myopia and atrophic scarring. The younger sibling had an early-onset progressive kyphoscoliosis, while the older sibling showed mild scoliosis during childhood. Intrafamilial variability of the clinical severity and age of kyphoscoliosis onset observed in our cases.

No abstract available.
Radiation, Ionizing

We developed an electromechanical gait trainer for rehabilitation of the persons with disabilities, which was designed to simulate normal gait with partial body weight support. The purpose of this study was to apply it to stroke patients and to evaluate its usability. Four nonambulatory stroke patients had 20 sessions of gait training with newly developed gait trainer for 5 to 6 weeks. Knee and ankle joint angles were measured by electrogoniometer during training. Main outcome was assessed by functional ambu lation category (level 0~5). Knee and ankle joint angles during exercise in the gait trainer showed repetitive pattern of gait-like movement similar to normal gait, though it was variable among the subjects. Functional ambulation category levels after training were 2 in 3 patients and 1 in 1 patient. The electromechanical gait trainer was a useful device for gait retraining in stroke patients with severe neurologic impairments.
Ankle Joint ; Body Weight ; Disabled Persons ; Gait* ; Humans ; Knee ; Rehabilitation* ; Stroke* ; Walking

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency of the enzyme collagen lysyl hydroxylase 1 due to mutations in the gene PLOD1. We describe the rare cases of kEDS in Korean siblings with two novel compound heterozygous variants, c.926_934del (p.Leu309_Leu311del) and c.2170_2172del (p.Phe724del) in the PLOD1 gene. They had congenital hypotonia, joint laxity, skin hyperextensibility, Marfanoid habitus, high myopia and atrophic scarring. The younger sibling had an early-onset progressive kyphoscoliosis, while the older sibling showed mild scoliosis during childhood. Intrafamilial variability of the clinical severity and age of kyphoscoliosis onset observed in our cases.

BACKGROUND: Poor reporting quality in diagnostic accuracy studies hampers an adequate judgment of the validity of the study. The Standards for Reporting of Diagnostic Accuracy Studies (STARD) statement was published to improve the reporting quality of diagnostic accuracy studies. This study aimed to evaluate the adherence of diagnostic accuracy studies published in Annals of Laboratory Medicine (ALM) to STARD 2015 and to identify directions for improvement in the reporting quality of these studies. METHODS: Two independent authors assessed articles published in ALM between 2012–2018 for compliance with 30 STARD 2015 checklist items to identify all eligible diagnostic accuracy studies published during this period. We included 66 diagnostic accuracy studies. A total of the fulfilled STARD items were calculated, and adherence was analyzed on an individual-item basis. RESULTS: The overall mean±SD number of STARD items reported for the included studies was 11.2±2.7. Only five (7.6%) studies adhered to more than 50% of the 30 items. No study satisfied more than 80% of the items. Large variability in adherence to reporting standards was detected across items, ranging from 0% to 100%. CONCLUSIONS Adherence to STARD 2015 is suboptimal among diagnostic accuracy studies published in ALM. Our study emphasizes the necessity of adherence to STARD to improve the reporting quality of future diagnostic accuracy studies to be published in ALM.

A pancreatic arteriovenous malformation (AVM) is a very rare disease entity that is usually asymptomatic; however, it may present with a massive gastrointestinal hemorrhage. Recent advances in cross-sectional imaging and the widespread availability of angiography have contributed to the diagnosis of this condition. A patient was transferred to our clinic due to unknown origin gastrointestinal bleeding and upper abdominal pain. Double balloon enteroscopy and duodenoscopy revealed a bleeding pancreatico-cholangio-duodenal fistula. We were able to diagnose an arteriovnous malformation with a pancreatico-cholangio-duodenal fistula by the use of angiography and from the post-operative pathological findings.
Abdominal Pain ; Angiography ; Arteriovenous Malformations* ; Diagnosis ; Double-Balloon Enteroscopy ; Duodenoscopy ; Fistula ; Gastrointestinal Hemorrhage ; Hemorrhage* ; Humans ; Pancreas ; Rare Diseases

Systemic sclerosis (SSc) is a chronic systemic disease that affects the skin, lungs, heart, gastrointestinal tract, kidneys, and musculoskeletal system. Although up to 90% of patients with scleroderma have been estimated to have gastrointestinal involvement, liver disease has been reported only rarely. A 51-year-old woman was hospitalized due to esophageal variceal bleeding. Her serum was positive for anti-nuclear antibody and anti-centromere antibody. Sclerodactyly was noted on both hands, and she had recently developed Raynaud's syndrome. Punch biopsy of the hand showed hyperkeratosis, regular acanthosis, and increased basal pigmentation in the epidermis, and thick pale collagenous bundles in the dermis. Liver biopsy showed chronic active hepatitis with bridging fibrosis. Consequently, she was diagnosed with liver cirrhosis due to autoimmune hepatitis (AIH) combined with SSc. AIH had subsided after administration of prednisolone at 40 mg per day. She received 5-10 mg/day of prednisolone as an outpatient, and her condition has remained stable. Patients with either AIH or SSc should be monitored for further development of concurrent autoimmune diseases. The early diagnosis of AIH combined with SSc will be helpful in achieving optimal management.
Anti-Inflammatory Agents/therapeutic use ; Antibodies, Antinuclear/blood ; Esophageal and Gastric Varices ; Female ; Gastrointestinal Hemorrhage ; Hepatitis, Autoimmune/complications/*diagnosis/drug therapy ; Humans ; Liver Cirrhosis/*diagnosis/etiology/pathology ; Middle Aged ; Prednisolone/therapeutic use ; Raynaud Disease/diagnosis ; Scleroderma, Systemic/complications/*diagnosis ; Skin/pathology