Humans ; Liver/pathology* ; Atrophy/pathology*

One-hundred patients with low vison caused by various ophthalmic pathologies were evaluated retrospectively. Ophtic atrophy was the most common etiology for low vision. For the low vision patients, hand-help magnifiers, stand magnifiers, telecopes and spectacle-mounted magnifiers were used as optical low vision aid(LVA)s. Typoscopes, visors, absorptive lenses, reading stands were used as non-optical LVAs. Closed circuit television was used as an electrical LVA. Majority of patients(82%) benefited from being prescribed low vision aids Therefore, it was suggested that all patients having low vision should receive a low vision assessment.
Atrophy ; Humans ; Pathology ; Retrospective Studies ; Television ; Vision, Low*

Female ; Humans ; Middle Aged ; Multiple System Atrophy ; diagnosis ; pathology

The distal thigh atrophy is a frequently associated sigh in the presence of knee pathology, and it is usually proved by the difference of the distal thigh circumference using tapeline measurement. But the proper position of measurement is known at this moment. From January of 1988 to December of 1991, we have 320 patients who had knee problems. Among them, 50 patients were selected as a sample of this study. We measured distal thigh circumference of normal and abnormal side by patella and also real circumference and area by taking cross sectional C-T image at each point of measurement. The obtained data are analysed by SPSS for statistical treatment. And the results are as follows: 1) We notice the largest difference on the point of 10cm above superior pole of patella. 2) The vastus medialis is the most conspicuously atrophied muscle among quadriceps and the atrophy of hamstring is minimal. 3) We have experienced the largest difference in cruciate ligament injury but a little difference in meniscus pathology. 4) There is no significantly difference between tapeline measurement and real circumference. As a conclusion of study, The position of 10cm above from the patella upper pole is the best site of clinical measurement of distal thigh circumference, and the muscle mainly associated with artophy is vastus medialis.
Atrophy ; Humans ; Knee ; Ligaments ; Patella ; Pathology ; Quadriceps Muscle ; Thigh

Atrophy ; Brain ; pathology ; Child ; Female ; Humans ; Muscle Fibers, Slow-Twitch ; pathology ; Neuromuscular Diseases ; congenital ; pathology

Humans ; Cerebral Cortex ; Hallucinations/pathology* ; Neurodegenerative Diseases/pathology* ; Atrophy/pathology* ; Magnetic Resonance Imaging

Idiopathic atrophoderma of Pasini and Pierini is a form of dermal atrophy of unknown etiology, usually affecting women during their adolescence and young adulthood. A 2-yr-old girl was presented with erythematous atrophic lesion on the right shoulder, which appeared from birth. The histologic findings were consistent with atrophoderma. This patient, to the best of our knowledge, is the first case of atrophoderma with an onset since birth.
Atrophy/congenital/metabolism ; Biopsy ; Child, Preschool ; Collagen/metabolism ; Erythema/pathology ; Female ; Humans ; Skin/*pathology

As an important exercise and energy metabolism organ of the human body, the normal maintenance of skeletal muscle mass is essential for the body to perform normal physiological functions. The autophagy-lysosome (AL) pathway is a physiological or pathological mechanism that is ubiquitous in normal and diseased cells. It plays a key role in the maintaining of protein balance, removing damaged organelles, and the stability of internal environment. The smooth progress of the autophagy process needs to go through multiple steps, which are completed under the coordinated action of multiple factors. Autophagy maintains the muscle homeostasis of a healthy body by removing cell components such as damaged myofibrils and isolated cytoplasmic proteins. Autophagy could also provide the initial energy required for cell proliferation, promote muscle regeneration and remodeling after injury. At the same time, autophagy disorder is also an important cause of age-related skeletal muscle atrophy. Autophagy could affect the response of skeletal muscle to exercise, and increasing the level of basic autophagy is beneficial to improve the adaptive response of skeletal muscle to exercise. This article summarizes the role and pathways of autophagy in the maintenance of skeletal muscle quality, in order to provide effective rehabilitation strategies for clinical prevention and treatment of muscle atrophy.
Autophagy/physiology* ; Exercise/physiology* ; Humans ; Muscle, Skeletal/pathology* ; Muscular Atrophy/pathology* ; Signal Transduction

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a patient with adolescent-onset hypomyelinated leukodystrophy with atrophy of basal ganglia and cerebellum (H-ABC). METHODS: A patient who was diagnosed with H-ABC in March 2018 at the First Affiliated Hospital of Nanjing Medical University was selected as the study subject. Clinical data was collected. Peripheral venous blood samples of the patient and his parents were collected. The patient was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RESULTS: The patient, a 31-year-old male, had manifested with developmental retardation, cognitive decline and abnormal gait. WES revealed that he has harbored a heterozygous c.286G>A variant of the TUBB4A gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Analysis with SIFT online software indicated the amino acid encoded by this variant is highly conserved among various species. This variant has been recorded by the Human Gene Mutation Database (HGMD) with a low population frequency. The 3D structure constructed by PyMOL software showed that the variant has a harmful effect on the structure and function of the protein. According to the guidelines formulated by the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic. CONCLUSION The c.286G>A (p.Gly96Arg) variant of the TUBB4A gene probably underlay the hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum in this patient. Above finding has enriched the spectrum of TUBB4A gene variants and enabled early definitive diagnosis of this disorder.
Male ; Humans ; Adolescent ; Adult ; Magnetic Resonance Imaging ; Basal Ganglia/pathology* ; Cerebellum ; Atrophy/pathology* ; Mutation ; Tubulin/genetics*

OBJECTIVES: Clinically, it has been found that some patients with epilepsy are accompanied by cerebellar atrophy that is inconsistent with symptoms, but the pattern of cerebellar atrophy after epilepsy and the role of cerebellar atrophy in the mechanism of epilepsy have not been elucidated. This study aims to explore the specific pattern of cerebellar atrophy after epilepsy via analyzing magnetic resonance images in patients with postepileptic cerebellar atrophy. METHODS: A total of 41 patients with epilepsy, who received the treatment in Xiangya Hospital of Central South University from January 2017 to January 2022 and underwent cranial MRI examination, were selected as the case group. The results of cranial MRI examination of all patients showed cerebellar atrophy. In the same period, 41 cases of physical examination were selected as the control group. General clinical data and cranial MRI results of the 2 groups were collected. The maximum area and signal of dentate nucleus, the maximum width of the brachium pontis, the maximum anterior-posterior diameter of the pontine, and the maximum transverse area of the fourth ventricle were compared between the 2 groups. The indexes with difference were further subjected to logistic regression analysis to clarify the characteristic imaging changes in patients with cerebellar atrophy after epilepsy. RESULTS: Compared with the control group, the maximum width of the brachium pontis and the maximum anterior-posterior diameter of the pontine were decreased significantly, the maximum transverse area of the fourth ventricle was increased significantly in the case group (all P<0.05). The difference in distribution of the low, equal, and high signal in dentate nucleus between the 2 groups was statistically significant (χ²=43.114, P<0.001), and the difference in the maximum area of dentate nucleus between the 2 groups was not significant (P>0.05). The maximum width of the brachium pontis [odds ratio (OR)=3.327, 95% CI 1.454 to 7.615, P=0.004] and the maximum transverse area of the fourth ventricle (OR=0.987, 95% CI 0.979 to 0.995, P=0.002) were independent factors that distinguished cerebellar atrophy after epilepsy from the normal control, while the anterior-posterior diameter of pontine (OR=1.456, 95% CI 0.906 to 2.339, P>0.05) was not an independent factor that distinguished them. CONCLUSIONS In MRI imaging, cerebellar atrophy after epilepsy is manifested as significant atrophy of the brachium pontis, significant enlargement of the fourth ventricle, and increased dentate nucleus signaling while insignificant dentate nucleus atrophy. This particular pattern may be associated with seizures and exacerbated pathological processes.
Humans ; Magnetic Resonance Imaging ; Pons ; Epilepsy/diagnostic imaging* ; Atrophy/pathology* ; Cerebellum/pathology*