FIQIH QURBAN; ANALISIS KEBIJAKAN PEMERINTAH TENTANG RUMAH PEMOTONGAN HEWAN (RPH) KURBAN PADA MASA WABAH PENYAKIT MULUT DAN KUKU (PMK)

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In this research, the researcher took the initiative to explore regulations that have been implemented by the government related to suppressing the development of the FMD outbreak on the island of Madura, regent regulations related to the formulation of implementation and evaluation of policies related to PMK which includes discussing how to issue animal health certificates. meet the criteria in accordance with the rules and regulations of the animal slaughterhouse (RPH). decision whether sacrificial animals infected with FMD are valid or not. Firstly, it is not valid if the animal already has severe clinical symptoms. Severe clinical symptoms in this case can be seen from the animal's nails blistering or falling off and/or causing limping/inability to walk. Second, the sacrifice is valid if the animal only has mild clinical symptoms. What is included in the mild category, for example, is that the animal's nails are only mildly blistered, resulting in lethargy, the animal has no appetite or drools more than usual. Third, if the virus in an animal that has been determined to be a sacrificial animal recovers after the slaughter period, namely after the 13th of Dzulhijjah, for example on the 14th and/or after, then the slaughter of the animal is counted as alms, no longer a sacrifice.

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  • Research Article
  • 10.7454/jpdi.v10i1.1032
Gambaran Risiko Post-Traumatic Stress Disorder (PTSD) pada Penyintas COVID-19 di Rumah Sakit Universitas Andalas
  • Mar 31, 2023
  • Jurnal Penyakit Dalam Indonesia
  • Sri Wahyuni + 5 more

Introduction. The COVID-19 pandemic has a negative impact on life where sufferers can experience emotional problems such as despair, deep sadness, helplessness, anxiety, and depressive symptoms. Especially in hospitalized COVID-19 survivors, there are sequelae in the form of anxiety, depression, and Post-traumatic Stress Disorder (PTSD). PTSD experienced by COVID-19 survivors will affect the patient’s quality of life in the future. This study aimed to assess the risk of PTSD in COVID-19 survivors who had been hospitalized at Andalas University Hospital. Methods. A cross-sectional descriptive study was conducted among COVID-19 survivors aged ≥15 years who had been hospitalized at Andalas University Hospital. Samples were selected by using total sampling method with inclusion criteria included experiencing mild, severe, or critical clinical symptoms during COVID-19 infection, being discharged from Andalas University Hospital for six months or more, and willing to participate in the study by signing an informed consent. Samples who have met the inclusion criteria completed the Bahasa Indonesia version of PCL-5 (PTSD Checklist for DSM-5) questionnaire which has been tested for its validity and reliability. Respondents were categorized as having PTSD risk if the questionnaire results showed a score of ≥23. The collected data were subsequently analyzed using univariate analysis. Results. A total of 75 respondents were included in the study, of which 9.3% (7) were found to be potentially or at risk of PTSD. The group of respondents who were at risk of PTSD was mostly comprised of females, and all of them experienced the four PTSD symptoms (intrusion/re-experiencing, avoidance, negative alterations in cognition and mood, and hyperarousal). The most common trigger that causes PTSD among respondents was the experience of a previous life-threatening traumatic event (71.43%). In addition, the most frequent clinical symptoms of COVID-19 in the PTSD risk group were severe clinical symptoms (71.43%). Conclusions. COVID-19 survivors who have the potential to experience PTSD are predominantly female survivors with severe clinical symptoms, experiencing all four PTSD symptoms, and having a traumatic life-threatening experience during COVID-19 hospitalization.

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  • 10.34172/ijtmgh.2022.22
Investigation of Polymorphisms of ACEII Gene in People With Coronavirus With Severe and Mild Symptoms or Asymptomatic
  • Aug 11, 2022
  • International Journal of Travel Medicine and Global Health
  • Fatemeh Arab + 5 more

Introduction: Angiotensin-converting enzyme 2 (ACE2) is the central receptor of coronavirus disease 2019 (COVID-19) in host cells. Genetic polymorphisms in the ACE2 gene may promote cardiovascular disease and systemic inflammatory injury in a patient affected by COVID-19. Thus, the genetic background may account for the substantial inter-individual diversity in illness susceptibility or severity. Our study was conducted to find a significant relationship between ACE2 rs4646142 and rs2285666 polymorphisms and susceptibility to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Methods: In this study, we randomly selected 230 samples, including 76 patients with severe clinical symptoms and 154 patients with mild clinical symptoms (the positive case of COVID-19 was confirmed by real-time reverse transcriptase polymerase chain reaction [RT-PCR] assay). Then, we performed DNA extraction and investigated the polymorphisms of rs2285666 and rs4646142 by RFLP-PCR method with TaqI and Alu1 restriction enzymes. Results: The study population included 107 men and 123 women, and the mean (±SD) age of the participants was 42.66±10.2. First, the levels of IgM and IgG were examined, and a significant association was observed in the level of IgM between the two groups of COVID-19 patients with mild and severe symptoms, as opposed to IgG. Meanwhile, no significant difference was observed between ACE2 rs4646142 and rs2285666 polymorphisms and the severity of COVID-19. Conclusion: To better understand the genetic variations in people’s susceptibility to COVID-19, this study was designed to evaluate the association between various ACE2 polymorphisms and the infection risk of SARS-CoV-2. However, no statistical difference was discovered.

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  • 10.1371/journal.pone.0037133
Clinical Severity of β-thalassaemia/Hb E Disease Is Associated with Differential Activities of the Calpain-Calpastatin Proteolytic System
  • May 16, 2012
  • PLoS ONE
  • Suriyan Sukati + 8 more

Earlier observations in the literature suggest that proteolytic degradation of excess unmatched α-globin chains reduces their accumulation and precipitation in β-thalassaemia erythroid precursor cells and have linked this proteolytic degradation to the activity of calpain protease. The aim of this study was to correlate the activity of calpain and its inhibitor, calpastatin, with different degrees of disease severity in β-thalassaemia. CD34+ cells were enriched from peripheral blood of healthy individuals (control group) and patients with mild and severe clinical presentations of β0-thalassaemia/Hb E disease. By ex vivo cultivation promoting erythroid cell differentiation for 7 days, proerythroblasts, were employed for the functional characterization of the calpain-calpastatin proteolytic system. In comparison to the control group, enzymatic activity and protein amounts of μ-calpain were found to be more than 3-fold increased in proerythroblasts from patients with mild clinical symptoms, whereas no significant difference was observed in patients with severe clinical symptoms. Furthermore, a 1.6-fold decrease of calpastatin activity and 3.2-fold accumulation of a 34 kDa calpain-mediated degradation product of calpastatin were observed in patients with mild clinical symptoms. The increased activity of calpain may be involved in the removal of excess α-globin chains contributing to a lower degree of disease severity in patients with mild clinical symptoms.

  • Research Article
  • Cite Count Icon 345
  • 10.1016/s0028-3932(96)00101-7
Spatial and non-spatial working memory at different stages of Parkinson's disease
  • Feb 1, 1997
  • Neuropsychologia
  • Adrian M Owen + 4 more

Spatial and non-spatial working memory at different stages of Parkinson's disease

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  • 10.3760/cma.j.cn112137-20220406-00719
A multicenter cross-sectional study of quality of life and nonsurgical treatment in patients with knee osteoarthritis
  • Sep 20, 2022
  • Zhonghua yi xue za zhi
  • G Zhou + 6 more

Objective: To explore the influencing factors of health-related quality of life (HRQoL) in patients with knee osteoarthritis, and to analyze the non-surgical treatment of knee osteoarthritis. Methods: Demographic variables, treatment modalities, imaging data, and 12-item short form health survey (SF-12) scores of patients with knee osteoarthritis in orthopedic outpatient departments of five hospitals in Beijing from December 2017 to November 2018 were collected to analyze influencing factors of HRQoL and non-surgical treatment. Results: A total of 2 034 patients were included. There were 530 males (26.1%) and 1 504 females (73.9%), with a mean age of (59.17±10.22) years. In terms of physical quality of life, female patients with knee osteoarthritis had lower physical components summary (PCS) compared with male patients (β=-0.521, P=0.036); patients aged ≥64 years had lower PCS than those aged<55 years (β=-0.636, P=0.026). Patients with an education of more than 12 years had higher PCS than those with less than 10 years (β=1.063, P<0.001). Compared to patients with mild clinical symptoms, the PCS of patients with moderate clinical symptoms was lower (β=-0.860, P=0.002), while the PCS of those with severe clinical symptoms was much lower (β=-1.126, P<0.001). Patients treated with combination therapy had higher PCS than untreated patients (β=0.731, P=0.005). In terms of mental quality of life, compared to patients engaged in sedentary work, the mental components summary (MCS) of patients engaged in mild manual labor jobs was lower (β=-0.712, P=0.015); Compared to patients with a Charson comorbidity index of 0, patients with a Charlson comorbidity index ≥ 2 had lower MCS (β=-1.183, P=0.007). In the past 12 months, 648 (31.9%), 143 (7.0%), 406 (20.0%), 680 (33.4%), 343 (16.9%), 681 (33.5%), 170 (8.4%) patients had used non-steroid anti-inflammatory drugs (NSAIDs), acetaminophen, glucosamine/chondroitin formulations, physical therapy, articular cavity puncture injection, traditional Chinese medicine treatment and exercise therapy, respectively. Total of 451 patients (22.2%) received monotherapy and 889 patients (43.7%) received combination therapy. Conclusions: The major non-surgical treatment methods for patients with knee osteoarthritis in Beijing are NSAIDs, physiotherapy and traditional Chinese medicine. Combination therapy is used more frequently than monotherapy. Physical quality of life is related to gender, age, education, severity of symptoms and treatment, while mental quality of life is related to occupational labor and comorbidities.

  • Research Article
  • 10.3233/jpd-230344
Identifying New Subtypes of Multiple System Atrophy Using Cluster Analysis.
  • Apr 12, 2024
  • Journal of Parkinson's disease
  • Xiaobing Li + 13 more

Multiple system atrophy (MSA) is a disease with diverse symptoms and the commonly used classifications, MSA-P and MSA-C, do not cover all the different symptoms seen in MSA patients. Additionally, these classifications do not provide information about how the disease progresses over time or the expected outcome for patients. To explore clinical subtypes of MSA with a natural disease course through a data-driven approach to assist in the diagnosis and treatment of MSA. We followed 122 cases of MSA collected from 3 hospitals for 3 years. Demographic characteristics, age of onset, clinical signs, scale assessment scores, and auxiliary examination were collected. Age at onset; time from onset to assisted ambulation; and UMSARS I, II, and IV, COMPASS-31, ICARS, and UPDRS III scores were selected as clustering elements. K-means, partitioning around medoids, and self-organizing maps were used to analyze the clusters. The results of all three clustering methods supported the classification of three MSA subtypes: The aggressive progression subtype (MSA-AP), characterized by mid-to-late onset, rapid progression and severe clinical symptoms; the typical subtype (MSA-T), characterized by mid-to-late onset, moderate progression and moderate severity of clinical symptoms; and the early-onset slow progression subtype (MSA-ESP), characterized by early-to-mid onset, slow progression and mild clinical symptoms. We divided MSA into three subtypes and summarized the characteristics of each subtype. According to the clustering results, MSA patients were divided into three completely different types according to the severity of symptoms, the speed of disease progression, and the age of onset.

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  • Cite Count Icon 70
  • 10.1016/s0378-1135(02)00364-4
Experimental infection with the Paderborn isolate of classical swine fever virus in 10-week-old pigs: determination of viral replication kinetics by quantitative RT-PCR, virus isolation and antigen ELISA
  • Nov 26, 2002
  • Veterinary Microbiology
  • A Uttenthal

Experimental infection with the Paderborn isolate of classical swine fever virus in 10-week-old pigs: determination of viral replication kinetics by quantitative RT-PCR, virus isolation and antigen ELISA

  • Research Article
  • 10.3760/cma.j.cn121094-20190529-00162
Study on clinical phenotype of coal workers pneumoconiosis
  • May 20, 2020
  • Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseases
  • X Q Li + 4 more

Objective: To explore the clinical phenotypic characteristics of coal worker's pneumoconiosis for guiding the individualized treatment of various types of patients with coal worker's pneumoconiosis. Methods: Collect clinical data of 121 cases of coal worker's pneumoconiosis in different stages, and select 16 clinical variables (age, smoking index, years of underground dust exposure, stages of pneumoconiosis, types of work, family history, main symptoms, secondary symptoms, CAT score, imaging manifestations, FVC%, FEV(1)/FVC, FEV(1)%, DLCO%, respiratory failure complications, pulmonary heart disease complications) . Principal Component Factor Analysis (PCA) was used to analyze 16 clinical variables of 121 patients with coal worker's pneumoconiosis. Extracted 2 principal components and 8 related variables from 16 clinical variables, then coal worker's pneumoconiosis patients were divided into three types according to CCC values. Variance analysis or χ(2) test were used to analyze the characteristics of these three types of clinical data, then summarized the clinical phenotype composition ratio and clinical data characteristics. Results: The patients with coal worker's pneumoconiosis were initially divided into three types, including 73 cases (60.3%) in type 1, 18 cases (14.9%) in type 2 and 30 cases (24.8%) in type 3. Patients in type 1 are mainly middle-aged, with little damage to lung function and mild clinical symptoms, the imaging manifestations of type 1 patients are mainly diffuse nodules, and the stages of pneumoconiosis are mostly one-stage and second-stage. Patients in type 2 are mainly in middle-aged and elderly patients.the main pulmonary impairment is diffuse function decline. The clinical symptoms are severe and the imaging manifestations are complex. The stages of pneumoconiosis are one, second and third stages. Patients in type 3 are mainly middle-aged and elderly patients, with more pulmonary function impairment (decreased ventilation and diffusion) , severe clinical symptoms, complex imaging manifestations (micro nodules, emphysema, mass shadow, fibrosis) , and those pneumoconiosis stages are mainly in the second and third stages. Conclusion: According to the clinical characteristics, the patients with coal worker's pneumoconiosis were divided into 3 types by cluster analysis method, the treatment plan has certain guiding value in clinical work according to different classifications.

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  • Cite Count Icon 49
  • 10.2214/ajr.178.1.1780159
Radiographic findings in 20 patients with Hantavirus pulmonary syndrome correlated with clinical outcome.
  • Jan 1, 2002
  • American Journal of Roentgenology
  • M Boroja + 2 more

Hantavirus is a rare rodent-borne pathogen responsible for the Hantavirus pulmonary syndrome. The objective of this study was to review the clinical and radiographic findings of patients presenting with Hantavirus pulmonary syndrome in northern Alberta, Canada. We retrospectively reviewed the cases of 20 patients who presented with Hantavirus pulmonary syndrome from 1989 to 1999. Two patterns of presentation were identified. One group (13/20 patients) presented with fulminant clinical and radiographic findings and required intensive care support. Six (46%) of the 13 died within a few days of presentation. Some presented in respiratory failure with bilateral parenchymal infiltrates or a rapid progression from mild bilateral interstitial changes to bilateral interstitial and alveolar infiltrates with pleural effusions. The radiographic findings paralleled these clinical symptoms. The second group (7/20) consisted of patients whose clinical course was more limited, as were their corresponding radiographic findings. These patients had a limited hospital stay, and only minimal changes were identified on radiographs. None of the second group of patients died. Clearly, in our study, the patients with Hantavirus pulmonary syndrome presented as two groups: those with the fulminant form of the illness and those with the limited type. Of the patients we studied, the group with the fulminant form presented with severe clinical symptoms and radiographic signs of pulmonary disease and had a 46% mortality rate. The group with the limited form presented with mild clinical symptoms and minimal radiographic changes and had no mortalities.

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  • Cite Count Icon 2
  • 10.3760/cma.j.issn.2095-4352.2018.07.016
Efficacy analysis of prussian blue or its combination with hemoperfusion in the treatment of acute thallium poisoning
  • Jul 1, 2018
  • Chinese critical care medicine
  • Jin Zhao + 9 more

To investigate the efficacy of prussian blue (PB) or its combination with hemoperfusion (HP) in the treatment of acute thallium poisoning. Forty-seven patients with acute thallium poisoning with complete data hospitalized in the 307th Hospital of PLA from September 2002 to December 2017 were enrolled, and they were divided into mild poisoning group (blood thallium < 150 μg/L, urinary thallium < 1 000 μg/L) and moderate-severe poisoning group (blood thallium ≥ 150 μg/L, urinary thallium ≥ 1 000 μg/L) according to the toxic degrees. All patients were given symptomatic supportive treatments such as potassium supplementation, catharsis, vital organ protections, neurotrophic drugs, and circulation support. The mild poisoning patients were given PB with an oral dose of 250 mg×kg-1×d-1, while moderate-severe poisoning patients were given PB combined HP continued 2-4 hours each time. The PB dose or frequency of HP application was adjusted according to the monitoring results of blood and urine thallium. Data of gender, age, pain grading (numeric rating scale NRS), clinical manifestations, blood and urine thallium before and after treatment, length of hospitalization and prognosis were collected. Of the 47 patients, patients with incomplete blood and urine test results, and used non-single HP treatment such as plasmapheresis and hemodialysis for treatment were excluded, and a total of 29 patients were enrolled in the analysis. (1) Among 29 patients, there were 20 males and 9 females, median age of 40.0 (34.0, 49.0) years old; the main clinical manifestations were nervous system and alopecia, some patients had digestive system symptoms. There were 13 patients (44.8%) in the mild poisoning group with painless (grade 0) or mild pain (grade 1-3) with mild clinical symptoms, the length of hospitalization was 17.0 (14.2, 21.5) days. There were 16 patients (55.2%) in the moderate-severe poisoning group with moderate pain (grade 4-6) or severe pain (grade 7-10) with severe clinical symptoms, the length of hospitalization was 24.0 (18.0, 29.0) days. (2) After treatment, the thallium concentrations in blood and urine in the mild poisoning group were significantly lower than those before treatment [μg/L: blood thallium was 0.80 (0, 8.83) vs. 60.00 (40.00, 120.00), urine thallium was 11.30 (0, 70.10) vs. 370.00 (168.30, 610.00), both P < 0.01], the thallium concentrations in blood and urine in the moderate-severe poisoning group were also significantly lower than those before treatment [μg/L: blood thallium was 6.95 (0, 50.50) vs. 614.50 (245.00, 922.00), urinary thallium was 20.70 (1.95, 283.00) vs. 5 434.00 (4 077.20, 10 273.00), both P < 0.01]. None of the 29 patients died, and their clinical symptoms were improved significantly. All the 27 patients had good prognosis without sequela in half a year follow-up, and 2 patients with severe acute thallium poisoning suffered from nervous system injury. In the acute thallium poisoning patients, on the basis of general treatment, additional PB in mild poisoning group and PB combined with HP in moderate-severe poisoning group can obtain satisfactory curative effects.

  • Research Article
  • Cite Count Icon 899
  • 10.1093/brain/115.6.1727
Fronto-striatal cognitive deficits at different stages of Parkinson's disease.
  • Jan 1, 1992
  • Brain
  • A M Owen + 7 more

Groups of patients with idiopathic Parkinson's disease, either medicated or unmedicated, were compared with matched groups of normal controls on a computerized battery previously shown to be sensitive to frontal lobe dysfunction, including tests of planning, spatial working memory and attentional set-shifting. In a series of problems based on the 'Tower of London' test, medicated patients with Parkinson's disease were shown to be impaired in the amount of time spent thinking about (planning) the solution to each problem. Additionally, an impairment in terms of the accuracy of the solution produced on this test was only evident in those patients with more severe clinical symptoms and was accompanied by deficits in an associated test of spatial short-term memory. Medicated patients with both mild and severe clinical symptoms were also impaired on a related test of spatial working memory. In contrast, a group of patients who were unmedicated and 'early in the course' of the disease were unimpaired in all three of these tests. However, all three Parkinson's disease groups were impaired in the test of attentional set-shifting ability, although unimpaired in a test of pattern recognition which is insensitive to frontal lobe damage. These data are compared with those previously published from a group of young neurosurgical patients with localized excisions of the frontal lobes and are discussed in terms of the specific nature of the cognitive deficit at different stages of Parkinson's disease.

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  • Cite Count Icon 23
  • 10.1080/10790268.2018.1433267
A simplified treatment algorithm for treating thoracic and lumbar spine trauma
  • Feb 7, 2018
  • The Journal of Spinal Cord Medicine
  • Andrei F Joaquim + 3 more

ContextCurrent treatment of TLST should consider injury morphology, neurological status, clinical status (pain and disability) and also multimodal radiological evaluation (MMRE) with CT, MRI and dynamic/ standing plain radiographs.MethodsA narrative literature review was performed to propose a treatment algorithm to guide the management of thoracolumbar spinal trauma (TLST). In order to classify injuries and surgical indications, we utilized the two most recent classification systems (TLICS and new AO spine classification) and related recent literature.ResultsInjuries were categorized into three groups according to stability: 1) Stable injuries, 2) Potentially unstable injuries/ delayed instability or 3) Clearly unstable injuries. Stable injuries included most of AO type A fractures without neurological deficit, mild clinical symptoms and without risk factors for late deformity. Potentially unstable injuries generally included patients without neurological deficits but with some risk factors for late deformity or with severe clinical symptoms. Surgery may be recommended in this group. Finally, clearly unstable injuries are those with spinal dislocations and/ or with neurological deficits, especially in the setting of persistent neural tissue compression, requiring early surgical treatment.ConclusionsThe proposed treatment algorithm is intended to help surgeons select the best treatment modality for their patients, categorizing injuries according to their main characteristics into one of these three groups. Further studies addressing the reliability and safety of this algorithm are necessary.

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  • Cite Count Icon 1
  • 10.3760/cma.j.issn.0529-5807.2019.04.007
Ultrastructural and clinical findings of mitochondrial encephalomyopathy:report of 27 cases
  • Apr 8, 2019
  • Zhonghua bing li xue za zhi = Chinese journal of pathology
  • Q Zhang + 4 more

Objective: To investigate the ultrastructural features of muscle in patients with mitochondrial encephalomyopathy for its diagnosis and differential diagnosis. Methods: The clinical data of 27 mitochondrial encephalomyopathy patients who underwent left or right biceps brachii muscle biopsy at Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University from July 2006 to August 2017 were analyzed retrospectively. The muscle biopsy specimens were examined underlight microscope and transmission electron microscope. Results: There were 27 patients (17 males, 10 females) with an age range of 12 to 62 years (mean 29 years). The age of onset ranged from 3 to 38 years. The course of disease ranged from 1 month to 24 years. Twenty-two cases presented with lactic acidosis and stroke-like episodes (MELAS) syndrome, four with myoclonic epilepsy with ragged red fibers (MERRF) syndrome, and one with chronic progressive paralysis of extraocular muscle (CPEO) syndrome. Skeletal muscle biopsy showed abundant ragged red fibers and strongly SDH-reactive vessel. Genetic studies showed 17 of 22 cases of MELAS syndrome had A3243G mutation, and the other 5 cases had no abnormality. A8344G mutation was found in 3 of 4 cases of MERRF syndrome. No single or multiple mtDNA mutations were found in the single case of CPEO. Transmission electron microscopy of all 27 cases showed diffuse proliferation of mitochondria between the myofibrils and beneath the sarcolemma, with increased spacing between muscle cells. Seven cases showed numerous glycogen and four showed subsarcolemmal lipid droplets, 13 cases showed unusual mitochondrial morphology, including mitochondrial electron-dense substances and paracrystal line inclusions ("parking lot" change)in eight cases. Conclusions: Transmission electron microscopy shows significant differences in ultrastructural pathological changes among different patients with mitochondrial encephalomyopathy. Some patients with mild clinical symptoms have increased mitochondrial number, increased metabolism of glycogen and lipid droplets, while others with severe clinical symptoms have abnormal mitochondrial morphology. Typical crystalloid inclusions are found in mitochondria, which are of great value in the diagnosis of this disease.

  • Research Article
  • Cite Count Icon 35
  • 10.1111/j.1365-2265.2004.02150.x
Changed bone status in human immunodeficiency virus type 1 (HIV‐1) perinatally infected children is related to low serum free IGF‐I
  • Dec 1, 2004
  • Clinical Endocrinology
  • Stefano Stagi + 5 more

Adults and children affected by human immunodeficiency virus type-1 (HIV-1) infection show bone demineralization. Little is known about skeletal status using a quantitative high-frequency ultrasound (QUS) technique in these patients. To evaluate the bone quality and assess the role of the IGF system in the bone metabolism and skeletal status of HIV-1 perinatally infected children. Serum free and total IGF-I, IGFBP-3, serum osteocalcin level, urinary deoxypyridinoline concentration, spontaneous interleukin-6 (IL-6) release and broadband ultrasound attenuation (BUA) were evaluated in 44 prepubertal children who had perinatal HIV-1 infection. The patients were divided into two groups depending on the severity of their clinical condition: group 1 (23 children with no or mild clinical symptoms, mean age 8.0 +/- 2.9 years) and group 2 (21 children with severe clinical symptoms, mean age 8.58 +/- 2.47 years). Fifty-five healthy age- and sex-matched controls were analysed for comparison. Compared with group 1 and the controls, group 2 patients showed a significantly reduced BUA Z-score (P < 0.001), and significantly reduced concentrations of serum osteocalcin (P < 0.001) and urinary deoxypyridinoline (P < 0.001 and P < 0.05, respectively). Group 2 patients also showed significantly reduced serum free IGF-I (P < 0.001) and total IGF-I (P < 0.05) levels compared with the controls, but not with group 1. No statistically significant differences were found between the three groups with regard to IGFBP-3. Group 2 patients showed significantly higher spontaneous IL-6 release than group 1 patients and controls (P < 0.001). BUA Z-scores displayed a significant correlation with free IGF-I in group 2 (r = 0.96; P < 0.001), group 1 (r = 0.56; P = 0.005) and controls (r = 0.50; P < 0.001). Our study shows that only patients affected by perinatal HIV-1 infection with severe clinical manifestations present significant changes in bone quality and bone metabolism. Our data also show that impairment of skeletal status is related to reduction in serum total and free IGF-I. Children with perinatal HIV-1 infection, because of a considerable improvement in life expectancy, seem at great risk of not obtaining an optimal bone mass. A possible therapeutic approach should be considered in these children.

  • Research Article
  • Cite Count Icon 1
  • 10.1080/13816810.2024.2357305
Clinical and molecular findings in children with retinitis pigmentosa
  • Aug 29, 2024
  • Ophthalmic Genetics
  • Cheng Li + 3 more

Purpose To study the clinical and genetic features of a cohort of RP children. Methods We identified 46 RP patients with pathogenic or likely pathogenic mutations among 96 patients with a clinical diagnosis of retinitis pigmentosa. All of the patients underwent comprehensive clinical examinations and genetic testing. A retrospective study was conducted on 46 children with retinitis pigmentosa. The genetic and clinical characteristics of children with different genotypes were analyzed. Results Among the 46 children, 13 inherited X-linked gene mutations, including 9 RPGR and 4 RP2 mutations. There were 10 cases of autosomal dominant genes and 23 cases of autosomal recessive genes. XLRP accounted for a larger proportion of children, as observed in previous studies on RP. We found that RPGR genes were the most commonly mutated genes in RP children. The most frequently mutated gene was RPGR (9.3%), followed by RP2 (4.2%) and RPE65 (4.2%). Forty-six patients had mutations in 21 different genes, 19 of which were novel mutations. Most children with XLRP have a high degree of myopia, poor vision, and severe clinical symptoms. Frameshift mutations were more common in XLRP, followed by nonsense mutations. The onset of XLRP is relatively serious since childhood. Most children with ADRP have relatively good visual acuity and mild clinical symptoms, and missense mutations are common. The clinical manifestations of ARRP in children are more severe than those of ADRP in children but milder than those of XLRP in children, and missense mutations are common. The manifestations of RPE65 mutations are also severe and appear early. Conclusions Our results revealed that XLRP gene mutations were more common in children than in adults, as observed in previous studies on RP. The proportion of RP children with ADRP is relatively small. The new findings in our study polished the spectrum of novel mutations and the proportions of different genotypes in pediatric patients. The onset of XLRP occurred earlier. The genes with a high incidence in children were all relatively severe gene types of RP. This comprehensive database may provide essential information regarding the initial stage of RP.

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