Child ; Chromosomes, Human, Y ; genetics ; Female ; Humans ; Lower Extremity ; pathology ; Lymphedema ; diagnosis ; genetics ; Noonan Syndrome ; diagnosis ; genetics

Lymphedema, a chronic disease that lowers patients' quality of life, is categorized as primary or secondary. Secondary lymphedema can be improved by treating the underlying cause. However, in many cases, efforts are not made to identify the primary cause of lymphedema and treatment is targeted at the edema itself, resulting in misdiagnosis. Here, we describe the case of a 61-year-old man with right leg edema of unknown cause that had persisted for 3 years. Intestinal tuberculosis was confirmed during a re-evaluation of the cause, and his symptoms improved after anti-tuberculous treatment. This improvement was assessed qualitatively by indocyanine green lymphography before and after treatment, as well as by observation of the clinical symptoms. Lower extremity lymphedema caused by intestinal tuberculosis is extremely rare, and this case reveals the importance of continuing to identify the causes of resistant pathologies.
Chronic Disease ; Diagnostic Errors ; Edema ; Humans ; Indocyanine Green ; Leg ; Lower Extremity ; Lymphedema ; Lymphography ; Middle Aged ; Pathology ; Quality of Life ; Tuberculosis

Objective To summarize the characteristics of cases of electrocution due to direct current （DC） electronic hunter, and to provide references for forensic identification. Methods Four cases of electrocution due to DC electronic hunter were collected. Statistical analysis was carried out from the perspective of the scene and electric marks distribution, damage characteristics and histopathological changes. Results All the 4 cases of electrocution were accidental events. There were multiple electric marks, most of which were located in the lower limbs with serious damage. Some strip type electric marks were visible. Conclusion The distribution, morphological characteristics and severity of the electric marks caused by DC electronic hunter are different from those of the ordinary low-voltage alternating current damage. It is alerting that there would be actions of destroying the scene and abandoning the corpse in such cases.
Cadaver ; Electric Injuries/pathology* ; Electricity/adverse effects* ; Fatal Outcome ; Forensic Pathology/methods* ; Humans ; Lower Extremity

OBJECTIVES: To test whether myocardial apoptosis can be induced by traumatic fracture of lower limbs with hemorrhage, in order to lay a foundation of myocardial injury after traumatic fracture for the follow-up study. METHODS: Twenty SD rats were randomly divided into two groups, i. e. control group and trauma group(=10). A rat model of traumatic hemorrhage was establish, and a traumatic model of the original generation of myocardial cell culture was constructed . The level of interleukin-2(IL-2),IL-6,IL-10 and tumor necrosis factor-α(TNF-α) in rat serum was detected by ELISA at 0, 1, 2, 4, 8, 12, 16, 24 and 48 hour to find the most significant point. The pathological cardiac injury in rats was observed by HE staining under a microscope, and the apoptosis of cultured cardiomyocyte was detected by TUNEL methods. The expressions of apoptosis gene,(Bcl-2) and Bax, in myocardium of rat and cultured cardiomyocyte were detected by Western blot and RT-PCR. RESULTS: At the 4 hour after trauma, IL-6 and IL-10 in the serum of rats reached its highest, IL-2 reached its lowest at the 8th hour after trauma, and TNF-αreached its highest at 1 hour after trauma, then all recovered to their normol level gradually. Myocardial HE staining indicated that cardiomyocyte was swelling, disordered derangement, inflammatory cell infiltrated; a large number of myocardial cell nuclei was dyedbrown in TUNEL test which proved that the apoptosis index increased (<0.05). Western blot and RT-PCR results showed that the expression of pro-apoptotic gene Bax was up-regulated (<0. 05), while expression of anti apoptosis gene Bcl-2 down-regulated (<0.05). CONCLUSIONS The myocardial apoptosis can be induced by traumatic fracture of lower limbs with hemorrhage in rats, and then lead to myocardial injury.
Animals ; Apoptosis ; Cells, Cultured ; Cytokines ; blood ; Follow-Up Studies ; Fractures, Bone ; complications ; Hemorrhage ; complications ; Lower Extremity ; pathology ; Myocardium ; pathology ; Myocytes, Cardiac ; pathology ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; bcl-2-Associated X Protein ; metabolism

PURPOSE: The aim of this study was to analyze anatomical popliteal artery entrapment syndrome (PAES) and to individualize the treatment of this condition according to the anatomical status of the artery and the adjacent structure. METHODS: A total of 35 anatomical PAES legs in 23 consecutive patients treated within the Asan Medical Center, Seoul, Korea between 1995 and 2011 were analyzed retrospectively. Anatomical PAES was diagnosed by MRI and/or CT scans of the knee joint, and CT or conventional transfemoral arteriography of the lower extremities. RESULTS: We noted a type II gastrocnemius medial head (GNM) anomaly, a type III GNM anomaly, or an aberrant plantaris muscle in 51.4%, 20%, and 28.6% of PAES legs, respectively. In assessments of the arterial lesions, popliteal or tibial artery occlusion was noted in 19 of 26 symptomatic PAES legs. For cases without popliteal artery lesions, myotomy of the anatomically deranged muscle was performed in 5 of 7 symptomatic and 4 of 9 asymptomatic PAES legs. For occluded popliteal arteries, we performed ten direct repairs of the pathological popliteal artery and 4 femoro-below the knee popliteal bypass surgeries. As a result of the arterial Surgery, 9 direct procedures with myotomy yielded a patent artery, while 3 graft failures were noted in the bypass group. The median follow-up period was 84 months (range, 12–206 months). CONCLUSION: We recommend that treatment of PAES should be individualized based on pathology, symptoms, and various imaging studies.
Angiography ; Arteries ; Chungcheongnam-do ; Follow-Up Studies ; Head ; Humans ; Knee ; Knee Joint ; Korea ; Leg ; Lower Extremity ; Magnetic Resonance Imaging ; Muscle, Skeletal ; Pathology ; Popliteal Artery* ; Retrospective Studies ; Seoul ; Tibial Arteries ; Tomography, X-Ray Computed ; Transplants

Athletic injuries of the lower extremities are commonly encountered in clinical practice. While some pathology can be diagnosed on physical exam, others are a clinical dilemma with nonspecific symptomatology. In these situations, ultrasound imaging can be utilized as an exceptional diagnostic tool, offering unique advantages over other imaging modalities. This article will review the imaging characteristics of commonly encountered athletic injuries of the lower extremity.
Athletic Injuries* ; Lower Extremity* ; Musculoskeletal Diseases ; Pathology ; Sports* ; Ultrasonography*

PURPOSE: Soft tissue hemangioendothelioma (STHE) is a rare vascular tumor, which has a similar prognosis to borderline malignancy. The disease is poorly understood in pediatric cases because of its low incidence; therefore, we investigated treatment strategies for STHE in children. METHODS: We retrospectively analyzed 8 patients with STHE, who were pathologically confirmed between January 1995 and June 2015. The median duration of follow-up was 72 months. RESULTS: Five were male and the median age at the time of surgery was 1.2 years. Six patients presented with a palpable mass, and 2 patients experienced facial paralysis. The median tumor size was 4.0 cm. The following tumor locations were observed head (2 patients), neck (2 patients), chest wall (1 patient), sacrococcyx (1 patient), upper limb (1 patient), and lower limb (1 patient). The patients underwent either microscopic complete resection (R0) (3 patients), macroscopic complete resection (R1) (2 patients), or macroscopic incomplete resection (R2) (3 patients). After histopathological examination, 6 patients were diagnosed with kaposiform hemangioendothelioma (HE), one with retiform HE, and one with epithelioid HE. Postoperative sequelae occurred as gait disturbance, hearing impairment, and vocal cord palsy. Tumor recurrence or regrowth occurred in 4 patients. These patients underwent reoperation and IFN therapy; however, in the patient with epithelioid HE, metastasis to the scalp occurred after these therapies. The patient with the head tumor who underwent R2 resection, underwent resection three more times, but died 11 months after the first surgery. CONCLUSION: When treating STHE in children, R0 resection should be first considered, but recurrence and metastasis should be monitored depending on the size, pathology, and location of the lesion. When major sequelae are expected, function-preserving surgery could be considered, depending on tumor location, size, and nearby organs.
Child* ; Facial Paralysis ; Follow-Up Studies ; Gait ; Head ; Hearing Loss ; Hemangioendothelioma* ; Humans ; Incidence ; Lower Extremity ; Male ; Neck ; Neoplasm Metastasis ; Pathology ; Prognosis ; Recurrence ; Reoperation ; Retrospective Studies ; Scalp ; Soft Tissue Neoplasms ; Thoracic Wall ; Upper Extremity ; Vocal Cord Paralysis

Syringomyelia is a disorder in which a cavity has formed within the spinal cord. Idiopathic syringomyelia is not associated with identifiable causes such as Chari type 1 malformation, spinal cord tumor, vascular malformation, tethered cord, arachnoiditis, hydrocephalus, or previous spinal surgery. The main neurologic symptoms of idiopathic syringomyelia are toe-walking, constipation, incontinence, abnormal reflexes, and lower extremity weakness. Patients may present with various symptoms such as scoliosis, cutaneous markers, pain in the lower extremities or back, or may be asymptomatic. Herein, we report a young child with idiopathic syringomyelia presenting with subtle neck pain. A 23-month-old boy visited the neurologic clinic after 3 months of right occipital area neck pain. He had no history of trauma or central nervous system infection, and neurologic examination results were normal except for right posterior neck hyperesthesia. Brain and spinal magnetic resonance imaging showed an ovoid intramedullary cystic lesion (9.7×5.0×4.7 mm) at C6/7 of the spinal cord. There was no evidence of Chiari malformation or other lesions that can be primary pathologies of syringomyelia. Electromyogram/nerve conduction velocity results were normal. The subject was diagnosed as idiopathic syringomyelia. His symptoms and neurologic/radiologic indications showed no change at a 1-year follow-up. Idiopathic syringomyelia symptoms are varied and may be overlooked by physicians. Pediatricians may consider syringomyelia if patients complain about persistent sensory abnormality. All patients who present with syringomyelia should undergo detailed neuroimaging of the entire neuraxis to elucidate the proximate cause of the lesion.
Arachnoid ; Arachnoiditis ; Brain ; Central Nervous System Infections ; Child ; Constipation ; Follow-Up Studies ; Humans ; Hydrocephalus ; Hyperesthesia ; Infant ; Lower Extremity ; Magnetic Resonance Imaging ; Male* ; Neck ; Neck Pain ; Neuroimaging ; Neurologic Examination ; Neurologic Manifestations ; Pathology ; Reflex, Abnormal ; Scoliosis ; Spinal Cord ; Spinal Cord Neoplasms ; Syringomyelia ; Vascular Malformations

BACKGROUNDLipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency (MADD) is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging (MRI) is a helpful assistant, diagnostic tool for neuromuscular disorders. However, the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed.

METHODSWe assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients, combined with detailed clinical features and gene spectrum. Fat infiltration degree of the thigh muscle was scored while that of gluteus was described as obvious or not. Associated muscular atrophy was defined as obvious muscle bulk reduction.

RESULTSThe mean scores were significantly different among the anterior, medial, and posterior thigh muscle groups. The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group (P < 0.001). Moreover, the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group (P < 0.01). About half of the patients displayed fat infiltration and atrophy in gluteus muscles. Of 28 patients, 12 exhibited atrophy in medial and/or posterior thigh muscle groups, especially in posterior thigh muscle group. Muscle edema pattern was not found in all the patients.

CONCLUSIONSLate-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior, posterior, and medial thigh muscle groups, with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment. Our findings also suggest that muscle MRI of lower limbs is a helpful tool in guiding clinical evaluation on late-onset MADD.

Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Electron-Transferring Flavoproteins ; genetics ; Female ; Humans ; Lipid Metabolism, Inborn Errors ; genetics ; metabolism ; pathology ; Lower Extremity ; pathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscle, Skeletal ; metabolism ; pathology ; Muscular Atrophy ; genetics ; metabolism ; pathology ; Muscular Dystrophies ; genetics ; metabolism ; pathology ; Mutation ; genetics ; Young Adult

OBJECTIVETo analyze the etiology and clinical characteristics of Marjolin's ulcer, and to explore its prevention and treatment.

METHODSMedical records of 187 patients with Marjolin's ulcers admitted to the Department of Burns and Reconstructive Surgery of Xiangya Hospital of Central South University from January 1998 to May 2015 were retrospectively analyzed, including gender, age of onset of initial injury or primary disease, age of onset of Marjolin's ulcer, initial injury or primary disease, length of latency, lengths of pre- and post-ulceration periods, lesion site, lesion type, lesion area, local scar tension, histopathological type, degree of carcinoma cell differentiation, bone invasion and lymphadenopathy, treatment, and prognosis. The relationships between the age of onset of initial injury or primary disease and the length of latency, and the length of pre-ulceration period and the length of post-ulceration period were assessed by Spearman correlation analysis. The recurrence rates were processed with Fisher's exact test.

RESULTS(1) Among the patients, the ratio of male to female was nearly 1.6:1.0. The age of onset of initial injury or primary disease was 0.17-78.00 (17±18) years, and the age of onset of Marjolin's ulcers was 18-84 (49±14) years. (2) The most common initial injury among the patients was flame burn. The length of latency was 0.25-74.00 (32±16) years, and the lengths of pre- and post-ulceration periods were 0-73.00 (26±19) years and 0.08-59.00 (6±11) years respectively. The common lesion sites were the lower limbs and head and face. The rodent ulcer was the most common lesion type, and the lesion area was 1-625 (69±110) cm(2). There were obviously negative correlations between the age of onset of initial injury or primary disease and the length of latency, as well as the length of pre-ulceration period and the length of post-ulceration period (with r values respectively -0.71 and -0.50, P values below 0.01). The pathological scars of strong tension around lesions were seen in 176 cases. (3) The major histopathological type was squamous cell carcinoma, with high cell differentiation in most cases. (4) Bone invasion of carcinoma cells was observed in 59 cases. Lymph node enlargement was observed in 100 cases, and lymph node metastasis was observed in 18 cases. (5) Twenty patients did not receive any surgery, while 167 patients were treated by surgery with lesion extended resection as the main method. According to the condition of wound after the lesion extended resection, the wounds were mainly repaired by skin grafting and transplantation of local skin flap. The majority of wounds in 139 patients who underwent lesion extended resection were repaired in one surgery. Twenty-eight patients out of 104 followed-up cases had recurrence after surgery, mainly seen on head and face, upper limb, lower limb, and buttock, and there was no significant difference among them (P>0.05). The recurrence time of most patients was longer than 6 months after cure.

CONCLUSIONSPatients with Marjolin's ulcers in younger age of onset of initial injury or primary disease tend to have longer latency, during which the shorter the pre-ulceration period is, the longer the post-ulceration period will be. Marjolin's ulcers are prone to occur in scar sites with large tension. Early treatment of high tension scar and scar ulcer is important in prevention, and surgery is the optimal treatment for Marjolin's ulcers. Regular follow-up should be carried out owning to recurrence rate in certain degree after surgery.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Burns ; pathology ; Carcinoma, Squamous Cell ; pathology ; surgery ; Child ; Child, Preschool ; Cicatrix ; pathology ; Face ; pathology ; Female ; Humans ; Infant ; Lower Extremity ; pathology ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Skin Neoplasms ; pathology ; surgery ; Skin Transplantation ; Skin Ulcer ; pathology ; surgery ; Surgical Flaps ; Young Adult