OBJECTIVES: To summarize the skeletal muscle magnetic resonance imaging (MRI) features of the lower limbs in common subtypes of muscular dystrophy (MD) and the experience in the application of MRI in the diagnosis of MD. METHODS: A total of 48 children with MD who were diagnosed by genetic testing were enrolled as subjects. The muscle MRI features of the lower limbs were analyzed. Cumulative fatty infiltration score was calculated for each subtype, and the correlation of cumulative fatty infiltration score with clinical indices was analyzed for Duchenne muscular dystrophy (DMD). RESULTS: DMD was characterized by the involvement of the gluteus maximus and the adductor magnus. Becker muscular dystrophy was characterized by the involvement of the vastus lateralis muscle. Limb-girdle muscular dystrophy was characterized by the involvement of the adductor magnus, the vastus intermedius, the vastus medialis, and the vastus lateralis muscle. For DMD, the cumulative fatty infiltration score of the lower limb muscles was significantly correlated with age, course of the disease, muscle strength, and motor function (P<0.05), while it was not significantly correlated with the serum creatine kinase level (P>0.05). CONCLUSIONS Different subtypes of MD have different MRI manifestations, and MRI may help with the diagnosis and assessment of MD.
Child ; Humans ; Muscular Dystrophy, Duchenne/diagnostic imaging* ; Muscular Dystrophies, Limb-Girdle/pathology* ; Muscle, Skeletal/diagnostic imaging* ; Magnetic Resonance Imaging/methods* ; Thigh/pathology*

Sinonasal intestinal-type adenocarcinoma is a rare neoplasm which can be diagnosed by pathologic report. Nasal obstruction, epistaxis, and rhinorrhea are common symptoms, but presenting with a benign-looking palpable mass is also possible. This is a report of our experience in diagnosing and treating a sinonasal intestinal-type low grade adenocarcinoma. A 63-year-old man initially presented with a rapidly growing palpable mass in the glabella region for 4 months. A malignancy of sinus origin was suspected on imaging studies. We performed further preoperative evaluations for cancer staging, and curative surgery was planned. Radical resection and immediate reconstruction with free anterolateral thigh flap were performed. The pathology findings confirmed a diagnosis of sinonasal intestinal-type adenocarcinoma.
Adenocarcinoma* ; Diagnosis ; Epistaxis ; Frontal Sinus* ; Humans ; Middle Aged ; Nasal Obstruction ; Neoplasm Staging ; Pathology ; Thigh

BACKGROUND: Argyria is a rare irreversible cutaneous pigmentation disorder caused by prolonged exposure to silver. Herein, we report a case of generalized argyria that developed after chronic ingestion of soluble silver-nano particles and presented with muscle weakness. CASE PRESENTATION: A 74-year-old woman visited our emergency room, complaining of fever and mental deterioration. She was diagnosed with acute pyelonephritis and recovered after antibiotic therapy. At presentation, diffuse slate gray-bluish pigmented patches were noticed on her face and nails. Two months prior to visiting our hospital, she was diagnosed with inflammatory myopathy and given steroid therapy at another hospital. We performed a nerve conduction study that revealed polyneuropathy. In skin biopsies from pigmented areas of the forehead and nose, the histopathologic results showed brown-black granules in basement membranes of sweat gland epithelia, which are diagnostic findings of argyria. We reviewed pathology slides obtained from the left thigh muscles and found markedly degenerated myofibers with disorganization of myofibrils without inflammatory reactions, consistent with unspecified myopathy, rather than inflammatory myopathy. The patient was diagnosed with generalized argyria with polyneuropathy and myopathy and transferred to a rehabilitation institution after being tapered off of steroids. CONCLUSIONS: Clinicians should be aware of clinical manifestations of argyria and consider it in differential diagnosis when they examine patients who present with skin pigmentation and muscle weakness.
Aged ; Argyria* ; Basement Membrane ; Biopsy ; Diagnosis, Differential ; Eating ; Emergency Service, Hospital ; Female ; Fever ; Forehead ; Humans ; Muscle Weakness* ; Muscles ; Muscular Diseases ; Myofibrils ; Myositis ; Neural Conduction ; Nose ; Pathology ; Pigmentation Disorders ; Polyneuropathies ; Pyelonephritis ; Rehabilitation ; Silver ; Skin ; Skin Pigmentation ; Steroids ; Sweat Glands ; Thigh

A 55-year-old male presented with dysesthesia of the right anteromedial thigh. A magnetic resonance image revealed a globular mass at the right extraforaminal area of the L3/4 level. Based on the diagnosis of neurogenic tumor, surgical excision was performed. The surgical impression and pathology confirmed extrusion of intervertebral disc. In a retrospective review of the magnetic resonance image, we noticed a fibrillary pattern directed from the intervertebral disc space to the lesion, and disrupted annulus fibrosus and indentation caused by the ring apophysis. We suggest aforementioned features, indicative of intervertebral disc lesions, to be checked when interpreting mass lesions around the intervertebral foramen.
Diagnosis ; Humans ; Intervertebral Disc* ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Paresthesia ; Pathology ; Retrospective Studies ; Thigh

A 55-year-old male presented with dysesthesia of the right anteromedial thigh. A magnetic resonance image revealed a globular mass at the right extraforaminal area of the L3/4 level. Based on the diagnosis of neurogenic tumor, surgical excision was performed. The surgical impression and pathology confirmed extrusion of intervertebral disc. In a retrospective review of the magnetic resonance image, we noticed a fibrillary pattern directed from the intervertebral disc space to the lesion, and disrupted annulus fibrosus and indentation caused by the ring apophysis. We suggest aforementioned features, indicative of intervertebral disc lesions, to be checked when interpreting mass lesions around the intervertebral foramen.
Diagnosis ; Humans ; Intervertebral Disc* ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Paresthesia ; Pathology ; Retrospective Studies ; Thigh

Actinomycosis ; complications ; drug therapy ; pathology ; Aged, 80 and over ; Amoxicillin-Potassium Clavulanate Combination ; therapeutic use ; Anti-Bacterial Agents ; therapeutic use ; Cephalexin ; therapeutic use ; Ciprofloxacin ; therapeutic use ; Clindamycin ; therapeutic use ; Coinfection ; drug therapy ; Drug Resistance, Bacterial ; Escherichia coli Infections ; complications ; drug therapy ; Humans ; Male ; Pseudomonas Infections ; complications ; drug therapy ; Skin Diseases, Bacterial ; complications ; drug therapy ; pathology ; Staphylococcal Skin Infections ; complications ; drug therapy ; Thigh ; Trimethoprim, Sulfamethoxazole Drug Combination ; therapeutic use

BACKGROUNDCollagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies.

METHODSEleven patients with collagen VI gene mutation-related myopathies were enrolled in this study. MRI of the thigh muscles was performed in all patients with collagen VI gene mutation-related myopathies and in 361 patients with other neuromuscular disorders (disease controls). T1-weighted images were used to assess fatty infiltration of the muscles using a modified Mercuri's scale. We assessed the sensitivity and specificity of the MRI features of collagen VI-related myopathies. The relationship between fatty infiltration of muscles and specific collagen VI gene mutations was also investigated.

RESULTSEleven patients with collagen VI gene mutation-related myopathies included six UCMD patients and five BM patients. There was no significant difference between UCMD and BM patients in the fatty infiltration of each thigh muscle except sartorius (P = 0.033); therefore, we combined the UCMD and BM data. Mean fatty infiltration scores were 3.1 and 3.0 in adductor magnus and gluteus maximus, while the scores were 1.3, 1.3, and 1.5 in gracilis, adductor longus, and sartorius, respectively. A "target" sign in rectus femoris (RF) was present in seven cases, and a "sandwich" sign in vastus lateralis (VL) was present in ten cases. The "target" and "sandwich" signs had sensitivities of 63.6% and 90.9% and specificities of 97.3% and 96.9% for the diagnosis of collagen VI-related myopathies, respectively. Fatty infiltration scores were 2.0-3.0 in seven patients with mutations in the triple-helical domain, and 1.0-1.5 in three of four patients with mutations in the N- or C-domain of the collagen VI genes.

CONCLUSIONSThe "target" sign in RF and "sandwich" sign in VL are common MRI features and are useful for the diagnosis of collagen VI-related myopathies. The severity of fatty infiltration of muscles may have a relationship with the mutation location of collagen VI gene.

Adolescent ; Adult ; Child ; Child, Preschool ; Collagen Type VI ; genetics ; metabolism ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Muscle, Skeletal ; pathology ; Muscular Diseases ; genetics ; metabolism ; pathology ; Mutation ; genetics ; Sensitivity and Specificity ; Thigh ; pathology ; Young Adult

OBJECTIVETo introduce the application of pedicled anterolateral thigh (ALT) flap for total penile reconstruction and to investigate its feasibility and effect.

METHODSFrom May 2011 to May 2015, 12 male patients presented with absence of the penis or congenital malformation received phalloplasty with the pedicled ALT flap. Of them, the median age was 35 years old (range, 20-57 years). The size of the flaps ranged from 11 cm x 11 cm to 12 cm x 15 cm. 8 patients underwent urethra reconstruction with tube-in-tube flaps and other 4 patients with scrotal septal flaps. In this series, we performed one-stage urethral anastomosis in 4 cases and second-stage urethral anastomosis 6 months after the phalloplasty in 8 cases.

RESULTSAn acceptable reconstructed phallus was achieved in 10 patients. These flaps were primarily healed with satisfactory functional and cosmetic results. The reconstructed penis was completely necrosis because of the flap failure in one case. The distal half of the phallus was lost due to infection in one case. Both of them were treated with pedicled ALT flap from the other side. Reliable results were achieved. At a median follow-up of 1.5 year (range 1 to 4 years), 9 patients (90%) were fully satisfied with phallic cosmesis and size, and 4 patients who was married had successful sexual intercourse. 8 patients had normal urinate function. Fistula was developed in 2 patients (20%) which was treated with delayed repair at 6-12 months with local scrotal flaps.

CONCLUSIONSThe pedicled ALT flap can be simply used to reconstruct an entire penis as well as a urethra. It has several advantages including a less conspicuous donor site, greater bulk, better color match and no necessary for microsurgery.

Adult ; Anastomosis, Surgical ; methods ; Coitus ; Feasibility Studies ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Necrosis ; etiology ; Penis ; abnormalities ; surgery ; Reconstructive Surgical Procedures ; methods ; Scrotum ; Surgical Flaps ; pathology ; transplantation ; Thigh ; Time Factors ; Urethra ; surgery ; Young Adult

OBJECTIVETo investigate the clinical effect of lateral superior genicular composite tissue flap for tissue defect.

METHODSThe axis line of flap is the lateral thigh vertical midline. The cutaneous branch is inserted 4 cm near the femoral lateral epicondylus. The anterior border is the elongation line along patellar lateral border. The posterior margin is the hinder margin of femoral biceps. The lower border is the horizontal line along the upper line of patella. The composite flaps were used in 18 cases with soft tissue defects in extremities, 11 cases with clacaneus tenden defects and 16 cases with bony nonunion. Results From Mar. 2002 to Sept. 2013, 45 cases were treated with the composite tissue flaps. The flaps size ranged from 6 cm x 3 cm to 17cm x 9 cm. All the flaps survived completely. Blood supply crisis happened in 2 cases, which was released by reanastomosis. The patients were followed up for 1 - 2. 5 years with satisfactory aesthetic and functional results. All the bone defect and nonunion were healed. Good healing was also achieved in donor sites. 8 months after operation, knee joint function is evaluated as good by hospital special surgery knee score (HSS).

CONCLUSIONLateral superior genicular compostie tissue flap can be used to reconstruct soft tissue defect, bone defect and tenden calcaneus defect in one stage.

Anatomic Landmarks ; anatomy & histology ; Follow-Up Studies ; Graft Survival ; Humans ; Knee ; anatomy & histology ; Muscle, Skeletal ; anatomy & histology ; Soft Tissue Injuries ; pathology ; surgery ; Surgical Flaps ; transplantation ; Thigh ; Time Factors ; Wound Healing

BACKGROUND AND PURPOSE: Hyperkalemic periodic paralysis (hyperKPP) is a muscle sodium-ion channelopathy characterized by recurrent paralytic attacks. A proportion of affected individuals develop fixed or chronic progressive weakness that results in significant disability. However, little is known about the pathology of hyperKPP-induced fixed weakness, including the pattern of muscle involvement. The aim of this study was to characterize the patterns of muscle involvement in hyperKPP by whole-body magnetic resonance imaging (MRI). METHODS: We performed whole-body muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A skeletal sodium-channel gene. Muscle fat infiltration, suggestive of chronic progressive myopathy, was analyzed qualitatively using a grading system and was quantified by the two-point Dixon technique. RESULTS: Whole-body muscle MRI analysis revealed muscle atrophy and fatty infiltration in hyperKPP patients, especially in older individuals. Muscle involvement followed a selective pattern, primarily affecting the posterior compartment of the lower leg and anterior thigh muscles. The muscle fat fraction increased with patient age in the anterior thigh (r=0.669, p=0.009), in the deep posterior compartment of the lower leg (r=0.617, p=0.019), and in the superficial posterior compartment of the lower leg (r=0.777, p=0.001). CONCLUSIONS: Our whole-body muscle MRI findings provide evidence for chronic progressive myopathy in hyperKPP patients. The reported data suggest that a selective pattern of muscle involvement-affecting the posterior compartment of the lower leg and the anterior thigh-is characteristic of chronic progressive myopathy in hyperKPP.
Channelopathies ; Humans ; Leg ; Magnetic Resonance Imaging* ; Muscles ; Muscular Atrophy ; Muscular Diseases* ; Paralysis, Hyperkalemic Periodic* ; Pathology ; Thigh