Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50502 (Hip)
 7,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not asphyctic, failed to establish spontaneous breathing and required immediate intubation and ventilation. Marked muscular hypotonia and weakness persisted and reflexes remained absent. Hip dislocation, joint contractures, absent palmar creases, prominent lateral palatal ridges and cryptorchidism were interpreted as consequent to prenatal paralysis. The boy died after 5 h due to hyaline membrane disease and meconium aspiration. At autopsy the skeletal muscles were found to be hypoplastic. The muscle fibres contained numerous rods, a typical finding of nemaline myopathy. Nemaline myopathy should be considered in fetuses and newborns with multiple joint contractures, severe muscular weakness and respiratory insufficiency.
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PMID:Neonatal nemaline myopathy presenting with multiple joint contractures. 241 8

We describe a novel autosomal dominant myopathy presenting in mid-adult life with tibialis anterior weakness. We carried out a detailed clinical assessment of 24 individuals spanning three generations, documenting pathologic features of the muscles in 7 of the 11 affected individuals, including an autopsy study on one case. The second generation of affected individuals presented at an earlier age, and the disease progressed more rapidly than in the first generation. Lung function tests revealed progressive global respiratory muscle weakness detectable from the time of presentation, with preferential diaphragmatic involvement in some cases. Hip girdle and shoulder girdle weakness appeared later in the disease course. We observed a striking correlation between the clinical and pathological features. Clinically unaffected muscles had minimal pathologic change. Fiber splitting, eosinophilic inclusions, and vacuoles with basophilic rims were seen in moderately affected muscles, and fat and fibrous connective tissue replaced muscle fibers in the severely involved muscles. The inclusions were Congophilic and reacted with antibodies to desmin, beta-amyloid, and phosphorylated tau protein. The disease was not linked to any of the known loci associated with distal myopathies, confirming that the disorder in this family is both genetically and phenotypically distinct.
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PMID:A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. 1131 Jun 21

Pompe's disease is an ultra-orphan disease caused by the deficiency of lysosomal alpha-glucosidase. At present, it is the only inherited muscle disorder, which can be treated by replacement of the enzyme. According to the natural course, early infantile and late childhood-juvenile-adult cases are known. Respiratory insufficiency, cardiomyopathy, and muscle hypotonia are cardinal symptoms/signs in infantile Pompe's disease, while cardiomyopathy is absent in adult-onset cases. CK levels are always elevated in the sera of infantile patients. Hip-girdle dystrophy and orthopnoe should alert suspicion in adult patients. Diagnosis is established by decreased activity of the enzyme or mutational analysis. Muscle biopsy can be misleading in adult cases due to absence of glycogen in the examined specimen. In this review, we also discuss our experiences obtained by the treatment of three patients.
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PMID:[Pompe's disease. Part I: pathogenesis and clinical features]. 1968 1

We describe a novel autosomal dominant hereditary inclusion body myopathy (HIBM) that clinically mimics limb girdle muscular dystrophy in a Chinese family. We performed a detailed clinical assessment of 36 individuals spanning four generations. The age of onset ranged from the 30s to the 50s. Hip girdle, neck flexion and axial muscle weakness were involved at an early stage. This disease progressed slowly, and a shoulder girdle weakness appeared later in the disease course. Muscle biopsies showed necrotic, regenerating, and rimmed vacuolated fibers as well as congophilic inclusions in some of the fibers. Electron micrograph revealed cytoplasmic inclusions of 15-21 nm filaments. A genomewide scan and haplotype analyses were performed using an Illumina Linkage-12 DNA Analysis Kit (average spacing 0.58 cM), which traced the disease to a new locus on chromosome 7q22.1-31.1 with a maximum multi-point LOD score of 3.65. The critical locus for this unique disorder, which is currently referred to as hereditary inclusion body myopathy 4 (HIBM4), spans 8.78 Mb and contains 65 genes. This localization raises the possibility that one of the genes clustered within this region may be involved in this disorder.
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PMID:A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1. 2272 86

PURPOSE OF THE STUDY The purpose of the study is a retrospective comparison of results of the two-stage revision total hip arthroplasty using a non-articulating and an articulating spacer to treat periprosthetic joint infection (PJI). Two basic hypotheses are evaluated: (1) the clinical outcomes of the patients treated with "hand made" articulating cement spacer are better than in non-articulating patient's group in two-stage revision for PJI of the total hip arthroplasty and (2) PJI recurrence is higher in the group of patients treated with an articulating spacer group. MATERIAL AND METHODS The evaluated group consists of a total of 57 patients (23 women, 34 men) with the mean age of 61.2 years. Group A of 39 patients were treated by two-stage revision using the "hand-made" articulating cement spacer and Group B of 18 patients were treated using the non-articulating spacer. Both the groups were evaluated retrospectively in the reference period: preoperatively and two years after the surgery using the Harris Hip Score (HHS) clinical assessment. The revision surgery for acute and chronic complications of treatment, length of hospitalization, and the PJI recurrence were evaluated for both the groups. RESULTS The resulting HHS clinical reviews were pre-operatively 43.59 points in both the groups with postoperative improvement up to 81.74 points. The mean preoperative HHS scores were 41.67 points (Group A) and 47.77 points (Group B) and two years after the surgery they were 83.43 points (Group A) and 78.08 points (Group B) (two-tailed t-test, p-value = 0.042). In Group A a total of seven revisions were performed in the interval between the two-stage revision (4x recurrent dislocation, 2x persistent infection, 1x spacer fracture). In Group B one patient was revised for persistent infection. In the two-year period after the operation, a relapse of PJI was recorded in 5 patients in Group A (12.8%) and in 1 patient in Group B (5.6%) (Chi-square test, p-value = 0.41). The average time of hospitalization was 51.58 days, whereby 49.72 days and 55.61 days on average for Group A and B respectively (p-value = 0.53). DISCUSSION According to recent studies, the advantage of motion preservation in articulating cement spacers can be complicated by recurrent dislocations, implant migration, periprosthetic fractures or recurrent joint replacement infections, which can further prolong the treatment and worsen the final clinical results. An alternative treatment option is the application of a nonarticulating spacer maintaining the advantage of local administration of antibiotics and reducing the dead space formed by the infected implant removal. Discussed is mainly the choice of the method in case of muscle disorder or presence of segmental bone defects. CONCLUSIONS The results demonstrate the better clinical outcomes and the higher revision rate of patients with an articulating cement spacer in two stage revision. We didn't find any differences between the risk of PJI recurrence in both groups. Key words:periprosthetic infection, total hip replacement, cement spacer, two stage revision, articulating spacer, nonarticulating spacer.
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PMID:[Two-Stage Revision for Periprosthetic Infection of the Total Hip Arthroplasty: a Comparison of Two Methods]. 3025 76